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 01CO001 ENSG00000077312.9 ENSG00000130612.16 +/+ +/- chr19:40757504 chr19:40905191 CDS/splice-site intron inversion/3'-3' 30 18 0 279 104 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000077312.9 ENSG00000130612.16 ENST00000243563.8 . downstream downstream duplicates(12),mismatches(1) ^(CTCTCCGCACGCGGGCTGGAGAAGCGGGTCCTACGCACGCTTTGTTGTCGCGCTTTGCCTCCGTCCTTGCCCCTACTCCCGCCTTACCTGACTTCCTTTTCGGAGGAAGATCCTTGAGCAGCCGACGTTGGGACAAAGGATTTGGAGAAACCCAGGGCTAAAGTCACGTTTTTCCTCCTTTAAGACTTACCTC)AACACTTCACTCCATGGCAGTTCCCGAGACCCGCCCTAACCACACTATTTATATCAACAACCTCAATGAGAAGATCAAGAAGGATG___AGCTAAAAAAGTCCCTGTACGCCATCTTCTCCCAGTTTGGCCAGATCCTGGATATCCTGGTATCACGGAGCCTGAAGATGAGGGGCCAGGCCTTTGTCATCTTCAAGGAGGTCAGCAGCGCCACCAACGCCCTGCGCTCCATGCAGGGTTTCCCTTTCTATGACAAACCTATG|GGGATAGCAGGAGTACGGATTCCCTCTAACCTGCCTCATACTTCCTGGTGTTACCTAATCCACCTGGGCTTCCTCCATCACAGTCCTCCACATTCTACTCCGTGCTTCCTTCATCAGAGCTATGCTGGGCTATGCTGGGCCGTCACTGTAAAGGATGGAGCACTCTTCCCTGCTGGGCTGTGAGCCCTATGTG___AgTCTCgCTCTGTCGCCAGGCTGGAATGCAGTGGTTTGATCTCAGCTCACTGCCACCTCCACCTCCCGAGTTCAAGCGACTCTCCTGCC MAVPETRPNHTIYINNLNEKIKKDELKKSLYAIFSQFGQILDILVSRSLKMRGQAFVIFKEVSSATNALRSMQGFPFYDKPM|giagvripsnlphtswcylihlgflhhspphstpcflhqsyaglcwavtvkdgalfpagl* 01CO001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 10 1 35 43 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(9),low_entropy(2),mismappers(1),mismatches(4) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATC(AACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO001 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 4 0 26 21 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(6) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01CO001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 4 0 200 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(12),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAA)CTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCCGCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO001 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 16 85 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4) AGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAAC(GACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01CO001 ENSG00000236810.6 ENSG00000231290.6 -/- +/- chr1:23772111 chr20:58585848 exon/splice-site intron translocation/5'-5' 2 0 0 23 2 medium . . . . . ENSG00000236810.6 ENSG00000231290.6 ENST00000655402.1 . upstream downstream duplicates(1) ^(GTATATGA)CTCCAGTCCTGGCGCTGGATGCTGCTGCTGTTCCAGCTTCCTAGGTGTGGAAACTGAAGGACCAAGAGATTAAACAG___GAATCTCTGAGGACAAATGGGAATTCTCACTGATTTCTAGGACTACCCTGGGGCAG|GCCTGACTCCCCCGCAGAGGAGAAGCAAAACAAT . 01CO001 ENSG00000196352.16 ENSG00000123838.11 +/+ +/+ chr1:207340508 chr1:207123922 CDS/splice-site CDS/splice-site duplication 1 1 0 66 57 medium in-frame . Sushi_repeat_(SCR_repeat)(100%)|Sushi_repeat_(SCR_repeat)(100%) . . ENSG00000196352.16 ENSG00000123838.11 ENST00000314754.12 ENST00000367070.8 downstream upstream duplicates(2) ^(CCGCTGGGCGTAGCTGCGACTCGGCGGAGTCCCGGCGGCGCGTCCTTGTTCTAACCCGGCGCGCCATGACCGTCGCGCGGCCGAGCGTGCCCGCGGCGCTGCCCCTCCTCGGGGAGCTGCCCCGGCTGCTGCTGCTGGTGCTGTTGTGCCTGCCGGCCGTGTGGG___GTGACTGTGGCCTTCCCCCAGATGTACCTAATGCCCAGCCAGCTTTGGAAGGCCGTACAAGTTTTCCCGAGGATACTGTAATAACGTACAAATGTGAAGAAAGCTTTGTGAAAATTCCTGGCGAGAAGGACTCAGTGATCTGCCTTAAGGGCAGTCAATGGTCAGATATTGAAGAGTTCTGCAATC___GTAGCTGCGAGGTGCCAACAAGGCTAAATTCTGCATCCCTCAAACAGCCTTATATCACTCAGAATTATTTTCCAGTCGGTACTGTTGTGGAATATGAGTGCCGTCCAGGTTACAGAAGAGAACCTTCTCTATCACCAAAACTAACTTGCCTTCAGAATTTAAAATGGTCCACAGCAGTCGAATTTTGTAAAA___AGAAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATATTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGG___GTACAAATTATTTGGCTCGACTTCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGCAGAG___AAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGTGACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATTGGAGAGCACTCTATTTATTGTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCACCTGAATGCAGAG___GAAAATCTCTAACTTCCAAGGTCCCACCAACAGTTCAGAAACCTACCACAGTAAATGTTCCAACTACAGAAGTCTCACCAACTTCTCAGAAAACCACCACAAAAACCACCACACCAAATGCTCAAG___CAACACGGAGTACACCTGTTTCCAGGACAACCAAGCATTTTCATGAAACAACCCCAAATAAAGGAAGTGGAACCACTTCAG___GTACTACCCGTCTTCTATCTG___GTTCTCGTCCTGTCACCCAGGCTGGTATGCGGTGGT)GTGATCGTAGCTCACTGCAGTCTCGAACTCCTGGGTTCAAGCGATCCTTCCACTTCAGCCTCCCAAGTAGCTGGTACTACAG|ATTTTTCTTAATTGGCTCAACCACTAGTCGTTGTGAAGTCCAAGATAGAGGAGTTGGCTGGAGTCATCCTCTCCCACAATGTGAAA___TTGTCAAGTGTAAGCCTCCTCCAGACATCAGGAATGGAAGGCACAGCGGTGAAGAAAATTTCTACGCATACGGCTTTTCTGTCACCTACAGCTGTGACCCCCGCTTCTCACTCTTG(GGCCATGCCTCCATTTCTTGCACTGTGGAGAATGAAACAATAGGTGTTTGGAGACCAAGCCCTCCTACCTGTGAAA___AAATCACCTGTCGCAAGCCAGATGTTTCACATGGGGAAATGGTCTCTGGATTTGGACCCATCTATAATTACAAAGACACTATTGTGTTTAAGTGCCAAAAAGGTTTTGTTCTCAGAGGCAGCAGTGTAATTCATTGTGATGCTGATAGCAAATGGAATCCTTCTCCTCCTGCTTGTGAGCCCA___ATAGTTGTATTAATTTACCAGACATTCCACATGCTTCCTGGGAAACATATCCTAGGCCGACAAAAGAGGATGTGTATGTTGTTGGGACTGTGTTAAGGTACCGCTGTCATCCTGGCTACAAACCCACTACAGATGAGCCTACGACTGTGATTTGTCAGAAAAATTTGAGATGGACCCCATACCAAGGATGTGAGG___CGTTATGTTGCCCTGAACCAAAGCTAAATAATGGTGAAATCACTCAACACAGGAAAAGTCGTCCTGCCAATCACTGTGTTTATTTCTATGGAGATGAGATTTCATTTTCATGTCATGAGACCAGTAGGTTTTCAGCTATATGCCAAGGAGATGGCACGTGGAGTCCCCGAACACCATCATGTGGAGACA___TTTGCAATTTTCCTCCTAAAATTGCCCATGGGCATTATAAACAATCTAGTTCATACAGCTTTTTCAAAGAAGAGATTATATATGAATGTGATAAAGGCTACATTCTGGTCGGACAGGCGAAACTCTCCTGCAGTTATTCACACTGGTCAGCTCCAGCCCCTCAATGTAAAG___CTCTGTGTCGGAAACCAGAATTAGTGAATGGAAGGTTGTCTGTGGATAAGGATCAGTATGTTGAGCCTGAAAATGTCACCATCCAATGTGATTCTGGCTATGGTGTGGTTGGTCCCCAAAGTATCACTTGCTCTGGGAACAGAACCTGGTACCCAGAGGTGCCCAAGTGTGAGTGG___GAGACCCCCGAAGGCTGTGAACAAGTGCTCACAGGCAAAAGACTCATGCAGTGTCTCCCAAACCCAGAGGATGTGAAAATGGCCCTGGAGGTATATAAGCTGTCTCTGGAAATTGAACAACTGGAACTACAGAGAGACAGCGCAAGACAATCCACTTTGGATAAAGAACTATAATTTTTCTCAAAAGAAGGAGGAAAAGGTGTCTTGCTGGCTTGCCTCTTGCAATTCAATACAGATCAGTTTAGCAAATCTACTGTCAATTTGGCAGTGATATTCATCATAATAAATATCTAGAAATGATAATTTGCTAAAGTTTAGTGCTTTGAGATTGTGAAATTATTAATCATCCTCTGTGTGGCTCATGTTTTTGCTTTTCAACACACAAAGCACAAATTTTTTTTCGATTAAAAATGTATGTATAAAAAACTA)$ MTVARPSVPAALPLLGELPRLLLLVLLCLPAVWGDCGLPPDVPNAQPALEGRTSFPEDTVITYKCEESFVKIPGEKDSVICLKGSQWSDIEEFCNRSCEVPTRLNSASLKQPYITQNYFPVGTVVEYECRPGYRREPSLSPKLTCLQNLKWSTAVEFCKKKSCPNPGEIRNGQIDVPGGILFGATISFSCNTGYKLFGSTSSFCLISGSSVQWSDPLPECREIYCPAPPQIDNGIIQGERDHYGYRQSVTYACNKGFTMIGEHSIYCTVNNDEGEWSGPPPECRGKSLTSKVPPTVQKPTTVNVPTTEVSPTSQKTTTKTTTPNAQATRSTPVSRTTKHFHETTPNKGSGTTSGTTRLLSGSRPVTQAGMRWCDRSSLQSRTPGFKRSFHFSLPSSWYYr|FFLIGSTTSRCEVQDRGVGWSHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENETIGVWRPSPPTCEKITCRKPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHCDADSKWNPSPPACEPNSCINLPDIPHASWETYPRPTKEDVYVVGTVLRYRCHPGYKPTTDEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEITQHRKSRPANHCVYFYGDEISFSCHETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEIIYECDKGYILVGQAKLSCSYSHWSAPAPQCKALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGVVGPQSITCSGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLPNPEDVKMALEVYKLSLEIEQLELQRDSARQSTLDKEL* 01CO005 ENSG00000142192.21 ENSG00000226433.2 -/- +/+ chr21:26021840 chr21:33156562 CDS/splice-site exon/splice-site inversion 25 51 2 1131 105 high out-of-frame . Amyloid_A4_N-terminal_heparin-binding(100%),Copper-binding_of_amyloid_precursor__CuBD(100%)| . . ENSG00000142192.21 ENSG00000226433.2 ENST00000359726.7 ENST00000669414.1 upstream upstream duplicates(3),mismatches(2) ^(GTCGGATGATTCAAGCTCACGGGGACGAGCAGGAGCGCTCTCGACTTTTCTAGAGCCTCAGCGTCCTAGGACTCACCTTTCCCTGATCCTGCACCGTCCCTCTCCTGGCCCCAGACTCTCCCTCCCACTGTTCACGAAGCCCAG___GTACCCACTGATGGTAATGCTGGCCTGCTGGCTGAACCCCAGATTGCCATGTTCTGTGGCAGACTGAACATGCACATGAATGTCCAGAATGGGAAGTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA___GTCTACCCTGAACTGCAGATCACCAATGTGGTAGAAGCCAACCAACCAGTGACCATCCAGAACTGGTGCAAGCGGGGCCGCAAGCAGTGCAAGACCCATCCCCACTTTGTGATTCCCTACCGCTGCTTAG___TTGGTGAGTTTGTAAGTGATGCCCTTCTCGTTCCTGACAAGTGCAAATTCTTACACCAGGAGAGGATGGATGTTTGCGAAACTCATCTTCACTGGCACACCGTCGCCAAAGAG___ACATGCAGTGAGAAGAGTACCAACTTGCATGACTACGGCATGTTGCTGCCCTGCGGAATTGACAAGTTCCGAGGGGTAGAGTTTGTGTGTTGCCCACTGGCTGAAGAAAGTGACAATGTGGATTCTGCTGATGCGGAGGAGGATGA)CTCGGATGTCTGGTGGGGCGGAGCAGACACAGACTATGCAGATGGGAG___TGAAGACAAAGTAGTAGAAGTAGCAGAGGAGGAAGAAGTGGCTGAGGTGGAAGAAGAAGAAGCCGATGATGACGAGGACGATGAGGATGGTGATGAGGTAGAGGAAGAGGCTGAGGAACCCTACGAAGAAGCCACAGAGAGAACCACCAGCATTGCCACCACCACCACCACCACCACAGAGTCTGTGGAAGAGGTGGTTCGAG|ATCTGAGAAGTTTCTTGAAGACCATCAGCATCTTCAGTGGGCGACTGGAAGATACACTGTGGTTACCTGGGAGGCAGCCCAGCCTGGACCAGCAACCCAACCTGCTTCTTCAGAGCAAAACAAGAACTAGGAATCATCTTTTCACCTGGGAAGGAATCAAGTAAAAAGCAAAATTGAACTAAAG(___GTTGTTTACCTTTCAAACTTGGTGGCCATGTTGTGAGGAAGCCCAAGTGACATGAGGAGTTCCCGTGGAGGTGTGCTGCTGACAGCCCCAGGTGAGAGCTCAGCCAAGAATCAGCACAACACTGTGAGTGCAAACATGTGAGTGAGTGAGCTTGCAGAGGATGTGATCCCACCTAGGATGTCAGCATTCAAGACACCCTAGCTGACACTGAGTGAGTATAGGTGAAGAACATTTACAACAGTGATAATAGAAAACTTGTCATAAGTTTTTAATTTGTGCTGTAATTACACTCTGATATTCCCAAATCTTCAATAAAAATCCATTGTACAGTAAAA)$ MFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVR|dlrsflktisifsgrledtlwlpgrqpsldqqpnlllqsktrtrnhlftwegik* 01CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 25 22 2 65 74 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(8),low_entropy(3),mismatches(1) TCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO005 ENSG00000142192.21 ENSG00000226527.2(21602),ENSG00000226433.2(8727) -/- ./+ chr21:26021840 chr21:33143887 CDS/splice-site intergenic inversion 14 15 0 1131 26 high out-of-frame . Amyloid_A4_N-terminal_heparin-binding(100%),Copper-binding_of_amyloid_precursor__CuBD(100%)| . . ENSG00000142192.21 . ENST00000359726.7 . upstream upstream duplicates(3) ^(GTCGGATGATTCAAGCTCACGGGGACGAGCAGGAGCGCTCTCGACTTTTCTAGAGCCTCAGCGTCCTAGGACTCACCTTTCCCTGATCCTGCACCGTCCCTCTCCTGGCCCCAGACTCTCCCTCCCACTGTTCACGAAGCCCAG___GTACCCACTGATGGTAATGCTGGCCTGCTGGCTGAACCCCAGATTGCCATGTTCTGTGGCAGACTGAACATGCACATGAATGTCCAGAATGGGAAGTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA___GTCTACCCTGAACTGCAGATCACCAATGTGGTAGAAGCCAACCAACCAGTGACCATCCAGAACTGGTGCAAGCGGGGCCGCAAGCAGTGCAAGACCCATCCCCACTTTGTGATTCCCTACCGCTGCTTAG___TTGGTGAGTTTGTAAGTGATGCCCTTCTCGTTCCTGACAAGTGCAAATTCTTACACCAGGAGAGGATGGATGTTTGCGAAACTCATCTTCACTGGCACACCGTCGCCAAAGAG___ACATGCAGTGAGAAGAGTACCAACTTGCATGACTACGGCATGTTGCTGCCCTGCGGAATTGACAAGTTCCGAGGGGTAGAGTTTGTGTGTTGCCCACTGGCTGAAGAAAGTGACAATGTGG)ATTCTGCTGATGCGGAGGAGGATGACTCGGATGTCTGGTGGGGCGGAGCAGACACAGACTATGCAGATGGGAG___TGAAGACAAAGTAGTAGAAGTAGCAGAGGAGGAAGAAGTGGCTGAGGTGGAAGAAGAAGAAGCCGATGATGACGAGGACGATGAGGATGGTGATGAGGTAGAGGAAGAGGCTGAGGAACCCTACGAAGAAGCCACAGAGAGAACCACCAGCATTGCCACCACCACCACCACCACCACAGAGTCTGTGGAAGAGGTGGTTCGAG|GGCTGGCTTGGTCTTGGCTGATCTGGACTTGGCGCCTCTGATCCTGGTGTCTCTCATCCTCCTGGACCCACTGGCTGACTGGATATGTTCCTATCATGGCATTGGCAGAAGCACAAGGGAGAGAGCCCGACCCCACAAGTACTTTCCAAGGTCCTTGACTGAGTTGGGTCCACTAATAGCCCGTTAGCCAAAGCCACAAAGTCACCCAAATTCCATAGGCGCACCCAAAGCCGAATGGCAGGGCAGCTATGGGGGAGGGGAAAGGGGCAAATATTTCTGAACGGTCATCTAAT MFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVR|glawswliwtwrl* 01CO005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 12 10 0 65 38 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(6),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGA)GAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01CO005 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 14 7 0 30 37 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(2) GGGACAGCCACCTGGAGCGCAGCTGCCAG___...AAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCA(AACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 01CO005 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 9 8 2 22 33 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),low_entropy(1),mismatches(2) CGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGG(AAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 01CO005 ENSG00000169118.18 ENSG00000166803.13 -/- -/- chr15:64355988 chr15:64381038 5'UTR/splice-site CDS/splice-site duplication 9 8 0 26 156 high . . . . . ENSG00000169118.18 ENSG00000166803.13 ENST00000303052.13 ENST00000300035.9 upstream downstream duplicates(1),mismatches(2) ^(AGTGGTTCCGGTTCGGCTCCAGCCGCCC)CTCGGCTCCTCGCCTTCCCCCTCCCGTCCGCCTTCTCCCCTCCCTCCCGCTCCTGGGAAAGAGAGAAACCACCGCTGCGGGTGGGTAGAGAAGCACTTGGCGCCTCGGGGAGGGGACCGCGCCCGCCTCATTTGCGCCTTGCAGCACTGCTGGACCAG|TGGTGGCTGCTCGAGCCCCCAGAAAGGTGCTTGGTTCTTCCACCTCTGCCACTAATTCGACATCAGTTTCATCGAGGAAAG___CTGAAAATAAATATGCAGGAGGGAACCCCGTTTGCGTGCGCCCAACTCCCAAG(TGGCAAAAAGGAATTGGAGAATTCTTTAGGTTGTCCCCTAAAGATTCTGAAAAAGAGAATCAGATTCCTGAAGAGGCAGGAAGCAGTGGCTTAGGAAAAGCAAAGAGAAA___AGCATGTCCTTTGCAACCTGATCACACAAATGATGAAAAAGAATAGAACTTTCTCATTCATCTTTGAATAACGTCTCCTTGTTTACCCTGGTATTCTAGAATGTAAATTTACATAAATGTGTTTGTTCCAATTAGCTTTGTTGAACAGGCATTTAATTAAAAAATTTAGGTTTAAATTTAGATGTTCAAAAGTAGTTGTGAAATTTGAGAATTTGTAAGACTAATTATGGTAACTTAGCTTAGTATTCAATATAATGCATTGTTTGGTTTCTTTTACCAAATTAAGTGTCTAGTTCTTGCTAAAATCAAGTCATTGCATTGTGTTCTAATTACAAGTATGTTGTATTTGAGATTTGCTTAGATTGTTGTACTGCTGCCATTTTTATTGGTGTTTGATTATTGGAATGGTGCCATATTGTCACTCCTTCTACTTGCTTTAAAAAGCAGAGTTAGATTTTTGCACATTAAAAAATTCAGTATTAATTAAACATTACTTATTCTACCCTCTTTTTTGGCAAGGAGGACAAATACGCAATGTTGGAAAACCTTGGATGGATATCTTCTCTTTAAAAAAATGTAAAGATAATTTGGTCTTGAGGGTTTAAACGGTTGATAATGCCTCTACAACAACAAGAAAAAAGATAAAATACTAGGATAGAATCATGGTGGGCACAGTGGCTTCTCAGGAGGCTGAGGAGGGAGGTTTGCTTGAGTCCAGGAGTTGGAGACCAGCCCAGGCAACATAGCGTAAACCCTATCTCTAAAACAATTTTTAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCGGCAGTCCGGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATTTTAAAAAAGGCTGAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGATAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACTGTCACTACTAAAAATGAAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCCAGATTGTGCCACTGCACTCCAGCCTGAACAACAGAGTGAGACAATGTCTTAAAAAAAAAAAAAGAAAGAAAAGAAAAAAATATATATTTATATATGAACAATAAAAAATTAGCCTGGCATGGTGGCACACACAGTGGAACCAGATCCCATCTCTTAAAAGAAATTTTCCTAGGATTTGCATTTGATTCGCTATCATAAAATATAATTTTAAAGTTGGAAGTCAATATAACATGAAAGGCAAATCATGCCATAAACCCATAGGCATGGCAAAACTCCTAAGAGCTACTATGACATTTTTCAACATAACCAGAGGTATAATTGAAGAAGTGGGTATAATATTCCTCATCACCCTTTTTGCAGCAGCCTGTTGTCAAAAGTAATCATATTTTAGTAGGCATATTTTTCTGAAATACGTTTGTAATAAATGCATACTTATTTTTACAATACACTA)$ . 01CO005 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 6 0 19 24 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),mismatches(2) CGGGGGGCGGCGGCCGCAGCGGGGGACCCGCGACCTGGAGCAGCGGGAGGCCGAGGCCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAG(GAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 01CO005 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 7 4 0 19 15 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAG(CTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01CO005 ENSG00000285677.2 ENSG00000116584.20 +/- -/- chr1:156002441 chr1:155989351 exon CDS/splice-site deletion/read-through/3'-3' 5 6 0 14 20 high . . |RhoGEF_domain(100%) . . ENSG00000285677.2 ENSG00000116584.20 . ENST00000673475.1 upstream downstream duplicates(1) CAGCTCCCTTAAAAGGACCAAGAGAGAGGGGACCCCCACCAAAGTGCTGGACTGGGTTCTTAAAGGGGCCACCTGAAGCAGGACTTTTTCCCACACTGAAGTCACCAACTGACAGCAGAAACAGGTCCCCCATCTTTGGGATATCTCCCAGTTCTG|GAGGAGACTGCAAGCATCGGGATGCCCAGGCCCCAAGGAGGCCCTCTTCCTGCAGATCCGAGAAGGACTGGACACCTTTCTGGGACTGCAGCACCAGGGTGGCTACGCCTCCCGGCTG___GATCAGGATTCCTGTCATCCATCTGCTGGCCCTTTGGACCACTCGGCCACTGGCATGCTTTCCAAGTCTGTACCCGTGAGTGGCATCAACTGTCTCTTG(GACCGTTCGGATACAGATG___GGAATGTATCCCAGTCCTCTGCCATTGACCTCAGGAAACG___CTGCAGCCAGCTGGAAGGACATTCAGGTACCCGGGTAGGCTCCTCCCTGCGACAGACCTTCAGCTTCCTCTCGGGCATGACCGGAAAGGCCAAG___ACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGCTATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAA___CCTGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAG___CAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTGCAGTCCGTTTCTCTTCGAAGTAAGA___CAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGCCGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGG___ACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACAGACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAG___CAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAGGACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATG___AGCTAATCCAGACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTCCCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATCCATCGCTTGGGTGATCTGCTCATCAGCCAG___TTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAGCTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGG___AAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTGCTGGTGACTCAGCGCATCACCAAGTACCCGTTACTCATCAGCCGCATCCTGCAGCATTCCCACG___GGATCGAGGAGGAGCGCCAGGACCTGACCACAGCACTGGGGCTAGTGAAGGAGCTGCTGTCCAATGTGGACGAGGGTATTTATCAGCTGGAGAAAGGGGCCCGTCTGCAGGAGATCTACAACCGCATGGACCCTCGGGCCCAAACCCCAGTGCCTGGCAAGGGCCCCTTTGGCCGAGAGGAACTTCTGAGGCGCAAACTCATCCACGATGGCTGCCTGCTCTGGAAGACAGCGACGGGGCGCTTCAAAG___ATGTGCTAGTGCTGCTGATGACAGATGTACTGGTGTTTCTCCAGGAAAAGGACCAGAAGTACATCTTTCCTACCCTG___GACAAGCCTTCAGTGGTATCGCTGCAGAATCTAATCGTACGAGACATTGCCAACCAGGAGAAAGGGATGTTTCTGATCAGCGCAGCCCCACCTGAGATGTACGAGGTGCACACAGCATCCCGGGATGACCGGAGCACCTGGATCCGGGTCATTCAGCAGAGCGTGCGCAC___ATGCCCATCCAGGGAGGACTTCCCCCTGATTGAGACAGAGGATGAGGCTTACCTGCGGCGAATTAAGA___TGGAGTTGCAGCAGAAGGACCGGGCACTGGTGGAGCTGCTGCGAGAGAAGGTCGGGCTGTTTGCTGAGATGACCCATTTCCAGGCCGAAGAGGATGGTGGCAGTGGGATGGCCCTGCCCACCCTGCCCAGGGGCCTTTTCCGCTCTGAGTCCCTTGAGTCCCCTCGTGGCGAGCGGCTGCTGCAGGATGCCATCCGTGAGG___TGGAGGGTCTGAAAGACCTGCTGGTGGGGCCAGGAGTGGAACTGCTCTTGACACCCCGAGAGCCAGCCCTGCCCTTGGAACCAGACAGCGGTGGTAACACGAGTCCTGGGGTCACTGCCA___ATGGTGAGGCCAGAACCTTCAATGGCTCCATTGAACTCTGCAGAGCTGACTCAGACTCTAGCCAGAGG___GATCGAAATGGAAATCAGCTGAGATCACCGCAAGAG___GAGGCGTTACAGCGATTGGTCAATCTCTATGGACTTCTACATGGCCTACAG___GCAGCTGTGGCCCAGCAGGACACTCTGATGGAAGCCCGGTTCCCTGAGGGCCCTGAGCGGCGGGAGAAGCTGTGCCGAGCCAACTCTCGGGATGGGGAGGCTGGCAGGGCTGGGGCTGCCCCTGTGGCCCCTGAAAAGCAGGCCACGGAACTGGCATTACTGCAGCGGCAACATGCGCTGCTGCAGGAGGAGCTACGGCGCTGCCGGCGGCTAGGTGAAGAACGGGCAACCGAAGCTGGCAGCCTGGAGGCCCGGCTCCGGGAGAGTGAGCAGGCCCGGGCACTGCTGGAGCGTGAGGCCGAAGAGGCTCGAAGGCAGCTGGCCGCCCTGGGCCAGACCGAGCCACTCCCAGCTGAGGCCCCCTGGGCCCGCAGACCTGTGGATCCTCGGCGGCGCAGCCTCCCCGCAGGCGATGCCCTGTACTTGAGTTTCAACCCCCCACAG___CCCAGCCGAGGCACTGACCGCCTGGATCTACCTGTCACTACTCGCTCTGTCCATCGAAACTTTGAGGACCGAGAGAGGCAGGAACTGGGGAGCCCCGAAGAGCGGCTGCAAGACAGCAGTGACCCTGACACTGGCAGCGAGGAGGAAGGTAGCAGCCGTCTGTCTCCGCCCCACAGTCCACGAG___ACTTTACCAGAATGCAGGACATCCCGGAGGAGACGGAGAGCCGCGACGGGGAGGCTGTAGCCTCCGAGAGCTAAGGGGGCCCCTCCCCCCTGCCCCGTGCCCCACTGAAGAACATTACTGAGGGGGCTAACCTTGGGGACTCCAATTTGCCAATGATGAGGGAACATTTGAAAGAACTGCAAATTGTCCTTGCCAGCTCTTGGGATCCTTGGATACCTGGGGCCATTTAAGAAGCTAGGGGAATTAGGCCACAACACCCCCTGGGACATCCGAAAGCTACACCACAGATGCCAGTGGTTCATGCCTTCTTCCCGCAACTTTAGGAAAATTTATTTATTTATTGTTTATTAGTTATGGGGGGAGAGGGGAGATTTAAAGGACCAGGGACATGGGAACCAAGCCATAGGGATCAGAGGGCCTTGTCCTTGAACACTACTGGGGTATATTCAGGCTCATCCACGCAGCTGCTGGGTTCTTGCCCTAACGGCCCTCCCCTGCAACATCCGTCTTGGAGGAGAGGCTGCAGCCACAGCACCCTACTGCCCTTTAAATAAAGGAGGGCTGTGGGCAGGGCCATGTCCCTTTCTCCTCTCCCCTCAACCTCTTACTGCTGTTCTCCCTTTCTCCGTCCTTCATGGAAGCCCTGGGAGATAACCTGGCTTCCTGGAGTTGATGGAATAAAGGTTGGGGTGGCCATAATGGTTTGTTGGGGGTGAGGGAAAAAACCCACAGGGACCAGAATGTTTTGTTGTTCTTTTGTTTTCTTTTTTGTACCAAAGTCAACTGCACGTGTTTTATATTTTTAAGAGATCGTAGGCAATTAGAGATCGAAGCCTCCTATCTCCACATCTCTGAAGAAGTTGAGGGGTGGGGGAGAGAATGACTTCTGCCTTCATCTGCAGTAACGGGGGGACCTATACTGACCTCTTCCCCAGCCATTTAGAAACAAGTTCTAGGGTGGGTTGGAAAATCTCCAAGAGCCCTGACCTCATCTTCCACCTCAGCAACCATGACCTGAAACCTCAGCGTGAATTTGGGGGATTTTTCAGTGGAACCCTTGCCCCCAAATGTCGACCAGCCCCCAAATGTCGAAGAATTTTCTTCTTGCCAATTTTGTTGTTTAAAAAAAAAATTCAGGGAAAATTAAAAACCTGGAACTCC)$ . 01CO005 ENSG00000112367.11 ENSG00000223786.1 +/+ +/- chr6:109796851 chr6:74473435 CDS/splice-site intron inversion/3'-3' 2 1 0 46 2 high out-of-frame . SacI_homology_domain(100%)| . . ENSG00000112367.11 ENSG00000223786.1 ENST00000230124.8 . downstream downstream . ^(GATCATCTATAGGTTTAGTGCCTAATGGGTGTTGTTCCTGGCTGGACTTGATGTCCAGGGCCTGAGGGGTTTTCTCGCCGAGTCTCCTGGGGCGGTCCGGAGGCTCGTGCCCTGTTGTGGGGCCCCCATTTGCCGCCGCCATGCCCACGGCCGCCGCCCCCATCATCAGCTCGGTCCAGAAGCTGGTTCTGTATGAGACTAGAGCT___AGATACTTTCTAGTTGGGAGCAATAATGCAGAAACGAAATATCGTGTCTTGAAGATTGATAGAACAGAACCAAAAGATTTGGTCATAATTGATGACAGG___CATGTCTATACTCAACAAGAAGTAAGGGAACTTCTTGGCCGCTTGGATCTTGGAAATAGAACAAAGATGGGACAGAAAGGATCCTCGGGCTTATTTCGAGCGGTTTCAGCTTTTGGTGTTGTGG___GTTTTGTCAGGTTCTTAGAAGGCTATTATATTGTGTTAATAACTAAAAGGAGGAAGATGGCGGATATTGGAGGTCATGCAATCTATAAGGTCGAAGATACAAATATGATCTATATACCCAATGATTCTGTACGGGTTACTCATCCTGATGAAGCTAG___GTATCTACGAATATTTCAAAATGTGGACCTATCTAGCAATTTTTACTTTAG___TTACAGCTATGATTTGTCCCACTCACTTCAATATAATCTCACTGTCTTGCGAATGCCCCTGGAGATGTTAAAGTCAGAAATGACCCAGAATCGCCAAGAGAGCTTTGACATCTTTGAAGATGAAGGATTAATTACACAAGGTGGAAGCG___GGGTATTTGGGATCTGTAGTGAGCCTTATATGAAATATGTATGGAATGGTGAACTTCTGGATATAATTAAAAGTACTGTGCATCGTGACTGGCTTTTGTATATTATTCATGGGTTCTGTGGGCAGTCAA___AGCTGTTGATCTATGGACGACCAGTGTATGTCACTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCCGTTTTCTTAAAAGAGGTGCAAACTGTGAG___GGTGATGTTGCAAATGAAGTGGAGACTGAACAAATACTCTGCGATGCTTCTGTGATGTCTTTCACTGCAGGAAGTTATTCTTCATATGTACAAGTTAGAGGATCTGTGCCCTTATACTGGTCTCAGGACATTTCAACTATGATGCCTAAACCACCTATTACAT___TGGATCAGGCAGATCCATTTGCACATGTGGCTGCCCTTCACTTTGACCAGATGTTCCAGAGGTTTGGCTCTCCCATCATCATCTTGAATTTAGTGAAG___GAACGAGAGAAAAGAAAGCATGAAAGAATTCTGAGTGAAGAACTTGTTGCTGCTGTGACCTATCTCAACCAATTTTTGCCTCCTGAGCACACTATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAAG___CAAGCTGTGTAATGTTCTTGATCGACTAAATGTGATTGCAGAAAGTGTGGTGAAGAAAACAGGTTTCTTTGTAAACCGCCCTGATTCTTACTGTAGCATTTTGCGGCCAGATGAAAA___GTGGAATGAACTAGGAGGATGTGTGATTCCCACTGGTCGCCTGCAG___ACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTGGGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTACAGTTTGATACAGATGCAGTTAG___GTTATTTGAGGAACTCTATGAAGATCATGGTGATACCCTATCCCTTCAGTATGGTGGTTCTCAACTTGTTCATCGTGTGAAAACCTACAGAAAGATAGCACCATGGACCCAGCACTCCAAAGACATCATGCAAACCCTGTCTAGATATTACAGCAATGCTTTTTCAG___ATGCCGATAGACAAGATTCCATTAATCTCTTCCTGGGAGTTTTCCATCCCACTGAAGGGAAACCTCATCTCTGGGAGCTCCCAACAGATTTTTATTTGCATCACAAAAATACCATGAGACTTTTGCCAACAAGAAGAAG___TTATACTTACTGGTGGACACCAGAGGTGATAAAGCATTTACCATTGCCCTATGATGAAG___TTATCTGTGCTGTGAACTTAAAGAAGTTGATAGTGAAGAAATTCCACAAATATGAAGAAGAGATTGATATCCACAATGAGTTCTTTCGGCCATATGAGTTGAGCAGCTTTGATGATACCTTTTGCTTGGCTATGACAAGCTCAGCACG___TGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGG___AAACAAAAGCAATAGAGAAGAAGCTGTATTACAGCGGAAAACGGCAGCCAGCGCCCCGCCGCCCCCCAGCGAGGAGGCTGTGTCCAGCAGCTCTGAGGATGACTCTGGGACTGATCGGGAAGAAGAGGGCTCTGTGTCTCAGCGCTCCACTCCCGTGAAGATGACTGATGCAGGAGACAGTGCCAAAGTGACCGAG___AATGTGGTCCAACCCATGA)AGGAGCTATATGGAATTAACCTCTCAGATGGCCTCTCAGAAGAAGATTTCTCCATTTATTCAAG___ATTTGTTCAGCTGGGGCAGAGTCAACATAAACAAGACAAGAATAGC?AGCAGCCCTGTTCTAGGTGCTCAGATGGAGTTATAAAACT|GAAGCATAGACTGAGAAGCCTAGAAGTTCACCTGTTTTTATGGGCAGTAAGAAGAAAGATGGCTTGATGGTGCCAATTACCCAGCTACCTGTCCACTGATCAGGGAGCTTAACATAAGCTCTGTGTCCAC MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQQEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIGGHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKSTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALHFDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAKYTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTGILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLIVKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDETGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVKMTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNS?QPCSRCSDGVIKl|khrlrslevhlflwavrrkma* 01CO005 ENSG00000171862.11 ENSG00000223761.1 +/+ -/- chr10:87961118 chr10:87591743 CDS/splice-site exon/splice-site inversion 60 0 0 193 94 medium out-of-frame . C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%)| . . ENSG00000171862.11 ENSG00000223761.1 ENST00000371953.8 ENST00000446794.1 downstream downstream duplicates(12) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA___ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACA)AGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAG___GACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATCTAGTACTTACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAG|ACTAATTTCTTGCACATAGCTGCTGCCAGCTCCTACCACCAGAGAGGGACTGACTCCCTTTCCCAAGGAGTTCTGATCTGTGTGCTTTGGGTCAGGCACCAAGGTCCAGACCAGCCAATAGTGAACAGGA(AATCAAG)$ MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFK|tnflhiaaassyhqrgtdslsqgvlicvlwvrhqgpdqpivnrks 01CO005 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 9 7 0 364 26 medium out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(3) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAAT)GGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 01CO005 ENSG00000136143.16 ENSG00000244521.3(288190),ENSG00000234145.1(16036) -/- ./- chr13:47968595 chr13:47747424 CDS/splice-site intergenic deletion/read-through 6 6 0 314 21 medium out-of-frame . ATP-grasp_domain(100%)| . . ENSG00000136143.16 . ENST00000646804.1 . upstream downstream duplicates(1) ^(GCGCACGCCCCGGTTTCCTCGCGTCCGCGGCTGCTCACCCGAACTCCAGATGACCTCCAGGGAGTTGGAAACTGCCAGCTCCAACCGAGCCTTTCCTCTTCCCCAGGAGGACGCAACGCGGATGCTTGCAGCTGGTCACCACGACTCCGACTCCGACTCCTGGCCGCCGCCCGCGCGGCTGTGCGCTGGCCGTCATAGCGCGCGGGAGGACGCGCCTGGCAGCGGCAGGAAGTGACGCGCTCACTACCCCGTCCCGCGGCCGCAGCCAATCTCTCCCCGCGAGGGCGGAGGCGCCGAAATCAAAGCGAGAGCGCCTCGGCCTCTCCAGCTGTCCGCG___GTTCTGGGAAGTTCTGGATTGTTTAATAACCATGGACTCCAAGTACAGCAGCAACAGCAAAGGAATCTCTCACTACATGAATACATGAGTATGGAATTATTGCAAGAAGCTGGTGTCTCCGTTCCCAAAGGATATGTGGCAAAGTCACCAGATGAAGCTTATGCAATTGCCAAAAAATTAG___GTTCAAAAGATGTCGTGATAAAGGCACAGGTTTTAGCTGGTGGTAGAGGAAAAGGAACATTTGAAAGTGGCCTCAAAGGAGGAGTGAAGATAGTTTTCTC___TCCAGAAGAAGCAAAAGCTGTTTCTTCACAAATGATTGGGAAAAAATTGTTTACCAAGCAAACGGGAGAAAAGGGCAGAATATGCAATCAAGTATTGGTCTGTGAGCGAAAATATCCCAGGAGAGAATACTACTTTGCAATAACAATGGAAAGGTCATTTCAA___GGTCCTGTATTAATAGGAAGTTCACATGGTGGTGTCAACATTGAAGATGTTGCT)GCTGAGTCTCCTGAAGCAATAATTAAAGAACCTATTGATATTGAAGAAGGCATCAAAAAGGAACAAGCTCTCCAG___CTTGCACAGAAGATGGGATTTCCACCTAATATTGTGGAATCAGCAGCAGAAAACATGGTCAAGCTTTACAGCCTTTTTCTGAAATACGATGCAACCATGATAGAAATAAATCCAATGGTGGAAGATTCAGATGGAGCTG|GACATCCAAGCTGCATGAGGAGAGGCTCACGTAGGGGGAAACCGAGGTTTGCAGCAGCGACTCGCCAGGCGTGTGAGTGAGCCAACCTGGAAGCAGATCCTCCAGTTCCAGTGAAGTGTGTGGATGACATCAGCTCCAGCCTTCATTTTGACCACAACTCATGAGATGCCCTAAGCCAGAACCACCCTTGAAGCTGC MSMELLQEAGVSVPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVLAGGRGKGTFESGLKGGVKIVFSPEEAKAVSSQMIGKKLFTKQTGEKGRICNQVLVCERKYPRREYYFAITMERSFQGPVLIGSSHGGVNIEDVAAESPEAIIKEPIDIEEGIKKEQALQLAQKMGFPPNIVESAAENMVKLYSLFLKYDATMIEINPMVEDSDGA|ghpscmrrgsrrgkprfaaatrqace* 01CO005 ENSG00000087087.20 ENSG00000213148.3(33720),ENSG00000236832.1(12464) +/+ ./+ chr7:100882866 chr2:173465532 intron intergenic translocation 2 4 0 15 18 medium stop-codon . Domain_of_unknown_function_(DUF3546)(100%)| . . ENSG00000087087.20 . ENST00000611405.5 . downstream upstream . ^(GGAGCTTTGTGCCTCGGAGGCGTGGGTGACGCAGGCGCAGCGCGGGCTGCGCGCGCTACTGCCCATCCCCGGTTGTCCCACTTTTGTTCGCCTCTCTTCGGCCCTCTACTCAAGAGCTCCGTCTCCGTCTCGCCCTCCTCGAAGTCCTCGTCGCGCGCCCGCGACCCAGGTCGCCCTGAAATCTAGCCCGTCCGAGCGCGAGTCCAACGGCCGCGGCCGCACCAAG___GCCCCCTCAGACCGTGCCATGGGTGACAGTGATGACGAGTACGATCGAAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACCGTTCCCGCGAGAGAGATGAAAGACGTCGAGGGGACGATTGGAATGACAG___AGAGTGGGACCGTGGCCGTGAGCGCCGTAGTCGGGGTGAATATCGGGACTATGACCGGAATCGGCGAGAGCGCTTCTCGCCACCTCGCCACGAACTCAGCCCGCCACAGAAGCGCATGAGGAGAGACTG___GGATGAGCACAGCTCTGACCCATACCACAGTGGCTATGAGATGCCCTATGCTGGGGGGGGTGGGGGCCCAACTTATGGCCCCCCTCAGCCCTGGGGCCACCCTGACGTCCACATCATGCAGCACCATGTCCTGCCTATCCAGGCCAG___GCTGGGCAGCATTGCAGAGATTGACCTGGGTGTGCCGCCGCCCGTGATGAAGACCTTCAAGGAGT)TTCTCCTCTCCCTGGATGACTCGGTGGATGAGACGGAGGCCGTCAAGCGCTATAATGACTACAAGCTGGATTTCCGGAGGCAACAGATGCAGGATTTCTTCCTGGCGCACAAAGATGAGGAGTG___AGCCAGAACTGGGAACTACACCCGCTCATCGACGGAGCTCGGAGCAAACCCACCTCCACCCCCACCATACCCAGCCCATACATGAGCCCCTGGGCTGAGCTG|ACCATGAATCCATTAGGCAAGCTCTGATCTGACTATGTTTCTATGAATTGAAAAACATTTTCCTTTAGAGGACAGAAGGAAGATTTGAGTTTCTATTGAGACAGATACTtAGTTCAGTTGCAGAAAAGTAAAGAGAGTTACAGTTTCTGAAAACCTGAGTGTGGAGTAAGAAATATTAAGAAATATaATACCCATTTCAACACCAATTCAATACTGAATTTTAAACAGATATTTGGAGTAGAAGAGACACAGCCAAATGCTTGAATTTCATTTGAAAACCTTT . 01CO005 ENSG00000141642.9 ENSG00000260433.3 +/+ -/- chr18:50974561 chr18:53743428 CDS/splice-site exon inversion 0 2 0 28 10 medium out-of-frame . Metallo-beta-lactamase_superfamily(100%)| . . ENSG00000141642.9 ENSG00000260433.3 ENST00000269466.8 ENST00000650275.1 downstream downstream . ^(GTAGCCCCGCGGACAGCTGGGCCAGGGTGCGGGCCTGCGCCTCCCTCGGCTCCTGGCGCGGGCCTCGGGGAGAGG___GGTGGAAGATGTCTATGGATGTGACATTCCTGGGGACGGGTGCAGCATACCCATCTCCAACCCGGGGTGCCTCTGCTGTGGTCCTTCGGTGTGAA)GGCGAGTGCTGGCTCTTTGACTGTGGGGAGGGAACACAGACACAGCTTATGAAAAGCCAACTTAAAGCAG|GCACACCTATTCGCCGAGGCATCACCTGGATCCTACAGAGTCAG___CCTTGGCCATCAGTGATGGTGAAAGCAACAGATGTCAGATGTCAGCCCCTGGCTTCCTGCCTTACCGTAGAGGGATACTCGACAGACtGA(CTGGACAG___ATCACTCATGCTGGGGAAAGCCAGGTGTCATGTCTTGGGGAATCCAGGTGTTATGTCTTAAGGACAGGCTGGCAGACCTGTGCATACGCCCATGTAGCGAGAAACTAGACCCTCAGCTCAAGACACTGAAAGAAACCTCATGAAACAACTTGAAGCTCTGACCCTGAACCACCTAGCTAAACTGCTCTTAGATACCTGATTCTCAGATACTATTGAGAAAATAAACAATAATTATTTTA)$ MSMDVTFLGTGAAYPSPTRGASAVVLRCEGECWLFDCGEGTQTQLMKSQLKA|gtpirrgitwilqsqpwpsvmvkatdvrcqplascltvegystd* 01CO005 ENSG00000196967.11 ENSG00000158552.13 -/- +/+ chr19:37165612 chr2:219208257 5'UTR CDS/splice-site translocation 2 0 0 46 180 medium . . |Ubiquitin_interaction_motif(100%) . . ENSG00000196967.11 ENSG00000158552.13 ENST00000356958.8 ENST00000444522.6 upstream upstream . ^(AGCCTACAAAGGGGAGGTGCTAGAAGTCGGACCGGAAGTGGAAGTGGTCTTCCAAGGCTTTTTTGCCGCTGGTGTCAGGAGTATTTTCATATTCCAATACCGATAAATCTTTGAG___GTTTCTGGGTGTCTCTGGGGAGCCCCTGGGCCAGATTTTCCTCTAGACTCCAGCCCATCTCTTCAGAGCAGCTCTGCTTGAGTTCACAGATGACTGCCAAGCTTCAGACACCCTACAGAAAAAGGGTTGAGA)CCCAGTGTGGCCATGCCAGCTAATTGGACCTCACCTCAGAAATCCTCAGCCCTGGCTCCAGAGGATCATGGCAGCTCCTATGAG___TGTTAACCTTGATGCCTGAAAGAACTGGAAATTATGAAGATAGATTCAGAAGTCAAATATGTTAACTAACTGCATTGAAGAGTAG|CTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAG___AGCCACAACCCGATCTCCGTCCTGGAC(AGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTG___AGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAG___TTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAG___GCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAA)$ . 01CO005 ENSG00000267360.6 ENSG00000158552.13 -/- +/+ chr19:37165612 chr2:219208257 3'UTR CDS/splice-site translocation 2 0 0 46 180 medium stop-codon . |Ubiquitin_interaction_motif(100%) . . ENSG00000267360.6 ENSG00000158552.13 ENST00000585860.2 ENST00000444522.6 upstream upstream . ^(GTTCTTGGGTGTCTCTGGGGAGTCCCTGGGCCAGACCTTCCTCCAGACTCCAGCCCACCTCTTCGGAGCAGCTCTGCTGAGTTCACAGATGACCACTAAACTTCAGGCACCCTAGACAAAAAGGGTTGAGATCCAGTGTGGCCATGCCAGCTAGTTGGACCTCACCCCAGAAATCCTCAGCCCTGGCTCCAGAGGATCATGGCAGCTCCTATGAG___GGATCAGTGTCCTTCAGGGATGTGGCTATCGATTTCAGCAGAGAGGAATGGCGGCACCTGGACCTTTCTCAGAGAAACCTGTACCGGGATGTGATGCTGGAGACCTACAGCCACCTGCTCTCAGTAG___GGTATCAAGTTCCTAAACCAGAGGTGGTCATGTTGGAGCAAGGAAAGGAACCATGGGCACTGCAGGGTGAGAGGCCACGTCACAGCTGCCCAG___GTTTCTGGGTGTCTCTGGGGAGCCCCTGGGCCAGATTTTCCTCTAGACTCCAGCCCATCTCTTCAGAGCAGCTCTGCTTGAGTTCACAGATGACTGCCAAGCTTCAGACACCCTACAGAAAAAGGGTTGAGA)CCCAGTGTGGCCATGCCAGCTAATTGGACCTCACCTCAGAAATCCTCAGCCCTGGCTCCAGAGGATCATGGCAGCTCCTATGAG___TGTTAACCTTGATGCCTGAAAGAACTGGAAATTATGAAGATAGATTCAGAAGTCAAATATGTTAACTAACTGCATTGAAGAGTAG|CTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAG___AGCCACAACCCGATCTCCGTCCTGGAC(AGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTG___AGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAG___TTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAG___GCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAA)$ . 01CO005 ENSG00000267699.2 ENSG00000260433.3 +/+ -/- chr18:50974561 chr18:53743428 CDS/splice-site exon inversion 0 2 0 28 10 medium out-of-frame . . . . ENSG00000267699.2 ENSG00000260433.3 ENST00000590722.2 ENST00000650275.1 downstream downstream . ^(GCACTTCCGCCCGGGCGCATTGTAGCCCCGCGGACAGCTGGGCCAGGGTGCGGGCCTGCGCCTCCCTCGGCTCCTGGCGCGGGCCTCGGGGAGAGG___GGTGGAAGATGTCTATGGATGTGACATTCCTGGGGACGGGTGCAGCATACCCATCTCCAACCCGGGGTGCCTCTGCTGTGGTCCTTCGGTGTGAA)GGCGAGTGCTGGCTCTTTGACTGTGGGGAGGGAACACAGACACAGCTTATGAAAAGCCAACTTAAAGCAG|GCACACCTATTCGCCGAGGCATCACCTGGATCCTACAGAGTCAG___CCTTGGCCATCAGTGATGGTGAAAGCAACAGATGTCAGATGTCAGCCCCTGGCTTCCTGCCTTACCGTAGAGGGATACTCGACAGACtGA(CTGGACAG___ATCACTCATGCTGGGGAAAGCCAGGTGTCATGTCTTGGGGAATCCAGGTGTTATGTCTTAAGGACAGGCTGGCAGACCTGTGCATACGCCCATGTAGCGAGAAACTAGACCCTCAGCTCAAGACACTGAAAGAAACCTCATGAAACAACTTGAAGCTCTGACCCTGAACCACCTAGCTAAACTGCTCTTAGATACCTGATTCTCAGATACTATTGAGAAAATAAACAATAATTATTTTA)$ MSMDVTFLGTGAAYPSPTRGASAVVLRCEGECWLFDCGEGTQTQLMKSQLKA|gtpirrgitwilqsqpwpsvmvkatdvrcqplascltvegystd* 01CO005 ENSG00000174842.17 ENSG00000198783.6 -/- +/+ chr1:92264554 chr17:34961740 CDS/splice-site CDS translocation 2 0 0 55 90 medium out-of-frame . Uncharacterised_protein_family__YAP/Alf4/glomulin(100%)| . . ENSG00000174842.17 ENSG00000198783.6 ENST00000370360.8 ENST00000361952.5 upstream upstream . ^(AGAAGAGCGGGCTAAGACGCCGGAGGAGGTGGCGGCGGCTGGGAGAGGCGAGGGTTCTGGCCG___ATTTTAGCATCGAAACTAGGAGAAATAAGAATGGCTGTAGAGGAACTTCAGTCTATAATAAAGAGATGT___CAAATCCTAGAAGAGCAAGACTTTAAAGAAGAGGATTTTGGCCTATTTCAGTTAGCTGGGCAAAGATGCATAGAAGAAGGGCACACAGACCAGCTATTAGAAATTATTCAAAATGAAAAGAATAAG___GTCATCATCAAGAATATGGGCTGGAATCTCGTTGGTCCTGTTGTTCGATGCCTTTTGTGTAAAGATAAAGAGGATAGTAAAAGAAAAGTTTATTTTTTGATCTTTGATTTATTGGTAAAG___TTATGCAATCCAAAGGAATTATTGTTGGGTTTGCTTGAACTGATTGAAGAGCCCTCTGGAAAACAGATATCCCAAAGTATTCTTCTTTTGCTTCAGCCATTACAAACAG___TGATTCAGAAACTTCATAACAAGGCATATTCAATTGGATTAGCATTGTCTACCCTTTGGAATCAGCTATCTCTTCTTCCTGTTCCATACTCAAAAGAACAAATACAAATGGATGACTATGGCCTTTGTCAGTGTTGCAAGGCCTTAATAGAGTTCACTAAGCCTTTTGTGGAAGAAGTCATTGATAACAAAGAAAACTCACTGGAAAATGAAAAGTTAAAGGATGAATTACTGAAATT___TTGTTTCAAAAGCTTGAAATGCCCTTTGCTGACAGCACAATTCTTTGAACAGTCTGAAGAAGGTGGAAATGATCCTTTCAGGTATTTTGCATCAGAAATAATA___GGTTTTTTATCAGCAATTGGACACCCTTTCCCCAAAATGATTTTTAATCATGGAAGGAAAAAGAGAACTTGGAATTACCTTGAATTTGAAGAAGAAGAAAATAAACAGTTAGCAGACTCAATGGCTTCTCTGGCATATCTAGTATTTGTACAGGGCATCCATATTGATCAGCTTCCAATGGTCTTAAG___CCCATTGTACCTTTTGCAGTTTAATATGGGGCACATTGAAGTCTTTTTGCAAAG___AACAGAAGAGTCTGTTATCTCCAAAGGATTG___GAGCTGCTGGAGAATAGTTTATTGAGAATAGAAGACAATAGTCTACTTTACCAGTACTTAGAAATCAAGAGTTTTCTTACTGTACCTCAG___GGCTTAGTGAAAGTAATGACACTTTGCCCCATTGAGACACTG___AGGAAAAAGAGTTTAGCTATGCTTCAGCTGTATATTAACAAGTTGGATTCACAAGGCAAATATAC)ATTATTTAG___GTGCTTATTGAATACAAGTAATCACTCAGGTGTGGAGGCTTTTATTATTCAAAATATCAAAAATCAAATTGACATGTCATTAAAG|TCCGGTTAAGAGCGAGCTCCTGTGGCAGACTCACGTCCTGGGAAAGCAGCACCGAG(AGAAAGTGGCCGAGCTGAAAGGCGCGAAGGAAGCCAGCCAGGGTTCGTCCGCCAGTTCAGCGCCTCATTCCGTCAAGAGGAAAGCGCCGGACGCAGACGACCAAGATGTCAAGAGAGCGAAGGCCACCTTGGTGCCTCAGGTACAGCCCTCCACATCTGCGTGGACCACCAACTTTGACAAAATAGGAAAGGAGTTCATTAGAGCGACTCCCAGTAAGCCTTCAGGACTCAGTTTACTCCCCGATTATGAAGATGAGGAGGAGGAGGAAGAGGAGGAGGAAGGAGATGGAGAAAGAAAAAGGGGGGACGCCAGCAAGCCGCTCTCCGACGCACAGGGCAAGGAGCACTCAGTTTCCTCTTCACGGGAGGTAACAAGTAGTGTGCTGCCAAACGATTTCTTTAGTACTAATCCTCCCAAGGCCCCCATAATTCCTCATTCAGGGTCAATTGAGAAAGCAGAAATACATGAAAAAGTGGTGGAAAGGAGAGAAAACACCGCGGAAGCGTTACCGGAAGGTTTTTTTGACGACCCTGAGGTAGATGCAAGAGTACGAAAGGTTGATGCTCCAAAAGATCAGATGGACAAAGAGTGGGACGAATTCCAAAAAGCCATGAGGCAGGTCAACACTATTTCCGAAGCCATAGTTGCCGAAGAGGATGAGGAGGGACGGTTGGACCGCCAGATTGGGGAGATCGATGAGCAGATAGAGTGTTACCGACGGGTGGAAAAGCTACGGAATCGCCAGGATGAAATAAAAAATAAACTTAAAGAAATCCTGACCATAAAAGAACTGCAGAAAAAGGAAGAAGAGAATGCTGACAGCGATGATGAGGGGGAACTACAGGATTTGTTGTCTCAGGATTGGAGGGTGAAAGGGGCATTGTTATAGGGTTTTAAAGACCCAAGGTTTCTAACAGCCTCTGCTGTTGTATAAAAAGTGCTGTCTCTCAGTAGTATAGCGGTTACTTCATGCCTCAAGATTTGGGTACCTGGATTGCTAAACTGGATTGTTGAGATAAAATGAGCCAGTGAGCTACAGCACTTTGGAAAATTTGTGTAACATGTTTTTGAGGTAAAGTTGTTTTTGAAATTTCTGAAGTGTTATATACCAAAATGCCAACATTTCCACGACAGACTTAACTGTATAATTTCGTTGTAAAATCTGTAAGTTGTAAATATTGTACATAGTTAAATCTGTATTCTGTTTTGAATTTTTTTAATTAATAGAAAGACCAACCGGCAAACTTTCAGATGAATGCTTACTGTGGTATTTGGAATGTATGTATCTTCTGAACCCTACATCAAGTTGAAAAGGTTTGTTTTCTTGTTTCTTTGGTTTTTGTATGGTTTTTTAGAACACTTCATAAACACATAAGTCATTGTAGGTTAATCAGTTCTCTTAGTGTGCTTTATTTTAAAAACATAAGAAAACTATATGCCAAACATGACCAAACCAATGATGGTCAGATGTGGTTGCACATGAGAGTCACCTATGAAGCATTAAAATAATTAAAGTGTCTGAGGCCTTCCCCTTCAATAAATCTGGGATTGGGCCCAGGCAACTGTGTTTTTTAAGCACCCAGGTTATTCTAATATATGCCAGGGTTAGAGAGTAACTGCCCTAAATCCAGAACCCATTTATGTTTTTCAGGTTTTTTCTTTTTCTTTAAATAACACATTCCATAAATTTGCTGTTTCTTGAATGAAGGAAAAAATATTATCTTTTATTTATTTCATCCAGCCTTAAATTTTGTTATTTGGTGGTAAATTAGGGTTCCTTGTTTGCAGGTCCTATCTATTGTAGAAAGAATATTTAAGTTGTCTTTCCAGCAGTAACAATTGGCTCTTGCTGGTCATTGATAGTTTAAATCACTCCTTCCTTTAGAGATTGAGGTACTCAAATAGGAAAAGGGAATTAGCAGTGTTCTGGAGTTGAAATGCATACAGCATATTCAAATAAAAGTGAGCAATAATAATAATA)$ MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQLLEIIQNEKNKVIIKNMGWNLVGPVVRCLLCKDKEDSKRKVYFLIFDLLVKLCNPKELLLGLLELIEEPSGKQISQSILLLLQPLQTVIQKLHNKAYSIGLALSTLWNQLSLLPVPYSKEQIQMDDYGLCQCCKALIEFTKPFVEEVIDNKENSLENEKLKDELLKFCFKSLKCPLLTAQFFEQSEEGGNDPFRYFASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEEEENKQLADSMASLAYLVFVQGIHIDQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISKGLELLENSLLRIEDNSLLYQYLEIKSFLTVPQGLVKVMTLCPIETLRKKSLAMLQLYINKLDSQGKYTLFRCLLNTSNHSGVEAFIIQNIKNQIDMSLK|sg* 01CO005 ENSG00000231721.7 ENSG00000128585.18 -/- +/+ chr7:130941413 chr7:131375424 exon CDS/splice-site inversion 1 1 0 8 38 medium . . |Galactose_oxidase__central_domain(100%),Kelch_motif(100%),Muskelin_N-terminus(100%) . . ENSG00000231721.7 ENSG00000128585.18 ENST00000647388.1 ENST00000352689.11 upstream upstream . ^(ACCGCGCGGAGGACAACTTTTAGCCGGCAGCCCAGACCAGCGCGGCACCTGTCTCCGGAGTCTCCACCGCTCCTCCCGATTCATCCCAGGGAAATTCTCAAGAATACGCTCTACAAATCTACGTGCGCATCATTTTCACCTCGCGTCGCGCCCGGGAGGAAGGAACGAGGCAAGGAGCTAAAGCAGCGTGCGTTCAGCCCTGGG___GCATTTTATTAATGCTTTTACGAGTTAGAAGAGTTGGGATAATTTGCCATCTGGAGTTTCTCTGCCTTGCTGATCTGAGCTCAGACCTGCCAATTTACCAGAGATAATTGATAACACCCTGTAACAGCTGA___GAGGAAAATGGAAGAAACGGAGATACTTTTAGTGAAGCAGAATAAACCACTGAACAG___GAAAAATGAGGAAGCTGTGAGTACCAGTGGAAGGAACGAGCCAGGAAGAGGGACTGGAACCATCTCAGAAGCCATGCCCCTCAGGCTGGAACTTGCCCTGTCTCCTCGCAGATGAG___ACAGACGTTTAAGTACGAGAAAGCTAATGGCGCAGATTCTGCTGACTGTGTGGCTCTCGTCTTAATGCGTTTTCCAACCTTGAACCTGAGAATGCCAGAGGATTGAGTCTCTGGACGTTCATCTGAGCAGATATCTGCTGGCCGCCTGGTTCCTGAGCTAACAAGTGGGTGTCCCGGGCTTGTGTGTGTAGTCACAACAGTGGAGGTGCCACGTGGCACCCAGAGGTCGACTGGGGCTACCGCGGGGCTTCCCGATCCTCACAAGTGTGTCTTCAGTGTCTGACATGAACTGGGAACTTGGGGCATCTTTAGAAGCACAGACATTTGGAGTTCCACGGCAAACCTGGATGTAAGCACTCA)CACAGCTTTTAAAGTGAAAGCAGGGACCTTGAGGAAGGAATCGCCGTCATCTCATTGCCGACCTGCTTACTGTGCTGGGAAACAAA|GAACATTTTAGTGGACAAACCAAATGACCAATCTTCAAGATGGTCTTCAGAGAGCAACTATCCTCCCCAG___TACTTGATTCTAAA(GCTCGAAAGGCCTGCTATAGTTCAGAATATCACATTTGGAAAATATGAGAAAACTCATGTTTGCAATTTGAAGAAATTTAAAGTCTTTGGTGGAATGAATGAAGAAAATATGACAGAGCTGTTGTCCAG___TGGCTTAAAGAATGATTATAACAAAGAAACATTCACCTTGAAGCATAAAATTGATGAACAGATGTTCCCTTGTCGATTCATTAAAATAG___TTCCACTCTTGTCCTGGGGACCCAGCTTTAACTTTAGCATCTGGTATGTTGAACTTAGTGGCATTGATGATCCTGATATAGTACAACCTTGTCTCAACTGGTATAGCAAG___TACCGTGAACAGGAAGCTATTCGCCTTTGCCTAAAACACTTCAGACAACACAACTATACAGAAGCTTTTGAGTCACTGCAAAAGAAAACCAAGATTGCACTGGAACATCCCATGTTAACAGATATTCATGACAAGCTGGTGTTGAAGGGTGATTTTGATGCTTGCGAAGAGTTGATTGAAAAGGCTGTAAATG___ATGGCTTGTTCAATCAGTATATCAGTCAACAGGAATATAAGCCACGATGGAGTCAAATCATTCCCAAAAGTACCAAAG___GTGATGGGGAAGATAACCGTCCAGGAATGAGAGGAGGCCATCAGATGGTTATTGATGTTCAAACAG___AGACTGTTTATTTGTTTGGTGGCTGGGATGGAACACAAGATCTTGCTGACTTCTGGGCGTACAGTGTGAAGGAGAACCAGTGGACATGTATCTCTAGAGACACTGAAAAAGAG___AATGGTCCTAGTGCCAGATCGTGTCATAAAATGTGCATTGATATTCAACGGAGGCAAATCTACACATTGGGGCGTTACTTGGATTCCTCTGTGAGGAACAGCAAATCTCTGAAAAGTGACTTCTATCGTTATGACATTGATACAAACACATGGATGTTACTAAGTGAGGATACTGCTGCTGATGGAGGGCCGAAATTGGTGTTTGATCATCAG___ATGTGTATGGACTCAGAAAAACATATGATCTACACTTTTGGTGGTAGAATTTTGACTTGTAATGGCAGCGTAGATGACAGCAGAGCCAGTGAACCACAATTCAGTGGCTTGTTTGCTTTCAACTGTCAATGTCAAACCTGGAAACTTCTTCGAGAGGACTCCTGTAATGCTGGGCCTGAGGACATCCAGTCTCGAATAGGACACTGCATGTTATTCCACTCA___AAAAATCGTTGCTTATATGTATTTGGTGGCCAGCGATCAAAGACCTATTTGAATGATTTCTTTAGTTATGATGTGGACTCTGATCATGTAGACATAATATCAGATGGCACCAAGAAAGACTCTGGGATGG___TTCCAATGACAGGATTTACACAGAGAGCAACTATTGATCCAGAACTGAATGAAATACACGTCTTATCTGGACTCAGCAAAGATAAGGAAAAGAGGGAAGAAAATGTTAGAAATTCATTCTGGATTTATGACATTGTGAGGAATAGTTG___GTCTTGTGTCTATAAGAATGATCAAGCTGCAAAGGATAATCCAACTAAAAGTCTTCAGGAAGAAGAACCATGTCCAAGGTTTGCCCATCAGCTTGTATACGATGAGCTACACAAG___GTTCATTACTTATTTGGTGGGAATCCAGGAAAATCTTGCTCTCCAAAGATGAGATTAGATGACTTCTGGTCACTGAAGTTGTGTAGACCTTCAAAAGATTATTTACTGAGGCATTGCAAGTACCTCATAAGAAAACACAG___GTTTGAAGAAAAGGCCCAAGTGGATCCCCTTAGTGCTCTGAAATATTTACAAAATGATCTTTATATAACTGTGGATCATTCAGACCCAGAAGAGACAAAAGAG___TTTCAGCTCCTGGCATCAGCTCTATTCAAATCTGGTTCAGATTTTACAGCTCTGG___GCTTTTCTGATGTGGATCACACCTATGCTCAAAGAACTCAGCTCTTTGACACCTTAGTAAATTTCTTTCCTGACAGCATGACTCCTCCTAAAGGCAACCTGGTAGACCTCATCACACTGTAACTGAAGAGTCACTGGACACAGAAATGGAAAACAGGAGTCGATTTTCCGTCTTTTGGATTGCAGCTCCACTGACTGACAGTAAAGCTGCAGTGATTGAGGACTGCACCAGAGTTCTGAAGGGATCTTAACCATCACAAGTTTTTACCCTCTTCCTTCATGCCTGACCTCAACCCCGCTCTCCTCATCCTATTCCTAAATTAGGCTAATAAAGTGAAATTGGTATACTTTCCAGTTAAATATATATATATATATATTTTTTCTTACTTTATCTTTTAAGAATTAATGAGTATAAAAGAAAAATTAGGCAGTTTACCCTTTTCAGATTTTTATTTCTTTTTTTTTTAATTGGGGGAAATAAGCACTATTAACAGATTCAGCACTACAAGTATTTTGAATGTTGTTGCTGTTGGTCATTTGGCCTGCCTTTTCCCTTCCTATTTCACTTTGCCTCCCATCACACAACTGCGTGTAAATGGTGTCACTTGTTCACCTCTTTACTTCATTCTTAACAAGTGTATAGTTCTCTAGGACAGTTGATGTATGTTAAGGTGATATCTGTGTCTGTATTGACTTGTCTTGTGTTACATTAAACAGTAGGCAGAACTGAGGTCTCAAGTTTGCACTCTTGGCCATAGAACTAAAAATGAAACCTGAGATTGACCCAAGCACCTATCTGAGATTGGTATATAATATTTCTATAATGATATATTTTATAGTAGATATTACAATAGCATCTGACTTTGAGTCACAGAAACCTTAAACTGAGGAGACAATAGTTCAGAACCTTTTTAAGAGCCATTCTAAAAGTGACCAGCAGGAGGGATCTAGTAGTGAATAATATCTTAATAGCAATTTTAGGAGAAAATGACTCTTTCGTCCAGAAGAGCTCTGCAGAACCAGGGCTCCCGTTTATCTTGTGCTATCTCTGTAGTATTTTCATTTGAGAGAGGAGGCTGAGTTTCCAGAGCTTTGCTTTCATTTATTTTTATACACATTGTCTCTCTATATCTGCTTGTGGATATTGTTATTTTGAAGAGAAATGGTTTGTGGTTGTCCAGTGGTATACAACTGACAGGCATTTCATTAAGCACATAGACCAGACTTTGTGAATGGTTCAGATATTTTTTCATTAAAAAACAAGGTATGGCAGATGGACTTTTCCATGGGTCAAATTTTTTGTGTGAGAGATAGAGGTACATGTCTTCTGATGATGTGCTGTGGAATGCAATGTGGGAAACCTACATCTGGCTAGTGCTTACATTTGCTCAAAAAGCATGTTGTATGAAGCTGACTGCCACCATGCTAAAGCAGATTCATATTAAGAAGTGTCGGTCGATCCAGTGGCTCTTAAGAGTGAATAGCTTTATGGAATCAAGTATGTCCCTGAGTAGCAAGATTAGGCCTCACCAAAGAAGAAATTAACCTGCACTTTCAAAAAGTACCATGTATAGGAATGAAACATTGAGGTCCCACTTTATTCTGTCTTTAGTACATGGTTTTACTTATTTTGGGGATGGATAGAAATATATTTTTGCTAGTTCTAGGCTTGAATCATGGGCTCCTTGGCTTTCCTAGCATCCCAAAGCAGTCAACAGTGATTTCTTAAGCAATTTGATCTGTACCTTTACTTGTGAAAGGTATGCTATATAATTCAGCAAGTACCAACTTGTGTAGCTGCAGAATAACCAAGTGGCTATCCAGTCAAGTAAATACAGTTTGCTTACATACTTCAACAGTTTCATAAAACGATTCCCCTGAGTGACACAAGAACATAAAATGTTAATATCACTAATATAGCCTGTTAAATCTTTTGTGGAGACAGGTGCAAATCAGAAGATTGACAAGGAAGAACTTGAGCTTGCTAAATAAGACTTCCTAAATTTAAAAGCTCTAGTTTTGCTTAGTGTGAATTCTGGCACTTTAAAAAGATTAAGCAAGTGAAATTCTGCTGCCCTCCACCATTTATTTTTACAGTGCTTTGTAATTTTTTTCATCAGTTCCTTAAATGTTATTTGGAGGAAACTAAGTTCTTGACCTCAGTAATTTTATTTTTGTTTTTCCCTAAATGTTTCCCTACTAGTCTTTTTGGAAAACATGTTTGTTTTAATTTCATCTTCCCTCACTTTATTTAGGTAGAATTTTTCCCCCTTCATTTCTGAAATTTTTTGCTCACCGCCATGTTTAAATGGGGTTGAATCATAGCGAGCCATTTGCTCTTGCCAAAGTGAGATAGATGTACTGAGGAGATAATTGAAAAGTCAGACTCTGTACTGTGGGGCTTTAATCGGAGCACTGCTGGAAATGATTGCAGAGAATGTAGTGCTTCATATATCCATGACCAAGATTGACATGTTGCTCACAACATGTCACAATTTAGTGAGGAGCTACATGTATTTCCAAGAATTCCAGCATAGATTATAATTTAAATAATCGAATTTGGTATTTAGGTACATTGTTTATATAGCCAAGTGTATATGCTTTACTACCTAACAATTATTCTAGCCTAGGTGAATCCCTAATTGAAACACCTGGCTAACACTTTAGACACATAAATTAAGTGGGATACAGTTTTCTCATTTGTATTATCTCCAGCTTCAACCTCATTTATCCTTTTTCCTAGTATAATACATTGTTTTCAACCAGAAATTAAAGTAGATATCCAACATTATTTTCAGTGCTTGTACTTCATGAGAAATAATCTGATTTTCAAGACACCTCTTAAGTGCATTTGCATTTTATTTTGGTAATGGCAGAGACCTCATGTGGCCAGTTTGATTGATTGAAGAATGTATCACTCTTATTCAAGCAAAGGAATTCAGACTTAAATGCCTACCTCTGTGCTGAAGCTGACAGACAGTATTAACTCTTATCAAGGCCATCTTTTAGACCTGATTTTCATTTATATGAAAACAGACCTGTCCATGTCTAATAAGTAAAAACTGATAGAATACATTAAAAAGTCACTGGTTTATCATAGAAAAGTTTGATGGGTTTAGAGCTCAGTGATTTAAGCTTGTAAAACTGCATTCTTGGGCAAAATATTTATATTGTATATAAATGGTTGGCAGCTTATTCCAGTTGATCTCTTCACATCTGCCTTAAAAGTGCTATGTAGAGATACATTAACAGAGTTATAATAAAACAGTGTTTTAAAATCTAGCCTATAAACAAAAACTAGTTTGAGGCACCCAAGCATTTAGTGAGAGATTGAGAATGATGCTTAATGGATCAAAAAAGCAATTAGGAGTATGTTCCTGATTTTATTCTCTAAATTATACTCAATTTCATGGTAATTACATGAAGAAGTTACCTGCAATTATTCTTAACACTACATGGAATTCACTGGGTAATTGTGGGTCATTTATTTCCTGAAAGTCACGTGAAATCCTTAGCTGGTTGAATGTTGCACAGTATTTGAGAATTACGGTTTGAAGTGATTTCTGTGGGAGGGAATCATTGCAATGTATATTCTAAATAAAGTCATCTAACTATTAAAAAAAAAACACCCTTCCTAACCCTTCTTTTCTTAAAATTCCACATTCATCCACAATCTCATCCCTTTGTAGAAATTCTTGCCTGAATTCTCACCAAGTTTTGAATTCCTAAGGTAGCCCCGATCTAGGATGTGAAGGCTGCCCAGAAAAAGTTTATGGCTGGAGGAGTATCATACAGTGTCTACATATGATAGTACTTACAGATTAGGTCTTTGGATGCTTTAACACAAAAGATTTTTGTTATCCTTATTAGTCAAATAACGCTATTCTTTTGTGGTTCTAGACCCTGGCTTCTATCTCCCTGTGATTTGTTTTAATGCTGAAATGACTTGGCTATCCAAAGCTTCTAGTCTAGAGGTCTGTTGGTTGAAGGCAGACATTTCCAAGTTTGTTGAAATAATACGAAGCTGACTAGCTTACGTGAATGATGTTGCCCTCATTTGTTTTGGGTGAGGACTCATTACTGCAGTATATTGATCTCTTCACCAAATGCTTTTTCTTTTTCTGAATAAATGCTGTATTAGAGGTTCTATTTATATATGATTTTTAAAACTTTGGTTTCCTTCTATCCACCAAATACTGTGAATTGTTTTTCCATTTATTTTTCTTAGCTAATGTAACTTTATTCTTCACTTTTTTTTAGCCCTAGACTTCCTAGATTTTCTGTGGCATTCTGTAGGACATTGTATTGCTTGGAAAAAAAAAGATCAAAATCATTCTGGGGCAAATGCTCTATTATCCTTATTTATGACAAGAGAATAATGAAATTCATAAGAAATTAATAACATTCAGATATTGCTATAAATGTACTTGAGTCATTTTCATTTGGGGATAGTAATAATGGCTGTGGCAGCTTTAATGGAGAAACCTGTGTTGGCCTCTTTTTCTGGCATTAGGATCTCTTGTCATAGAACTATTGGTAAAGTACAGGTTTGATAGCAGAGTTCCTGAATTCAGCATATCATCAGAATTTCCATTTACCTTTTGTCTTTTCTTTTTATTGTATTTTTTAACCTTTTTGTTTCTATTCCTACCTCCCATGAGTAACATTGATTTCTGCTGAAGTTAGAATTTGTGTTAAGAATTGACTTTAAACTTCTGAAATAGTTGAATATTAGAAGTGGCTTCAGTTGCCATGAAATGATTGCTTTTCTTTTTCTTTTTTTTTCCTTAAATAAAAATAATGCAGCCTTATATATGTCTCTTCCCCTCAAGAATGTGAATTTAGGCTGGGCATAGTGACTCACGCCTGTAATCCCAGACCTTTGGGAGGCTGACACGGGAAGATTGCTTGAGCCCAGGAATTTCAGACCAGCCTGGGCAACACAGGAAGACTCCATCTCTACTTAAAATATTTTTGTTTTTTAGCCAGGTGTGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAGTTTGGGGTGCAGTGAGCTATGATTGCGACACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGAATGTGAATTTAGCTCCAATTCCAAATGACTAACTCTTAGGCCAGTCATAGCCAATGAAATCATCTGACGGTAGCTTCTGTAGCCCTTAACCTAAGGAGTCATTAGAGGTTATAGTAAATTAGTTTCTCTAGTGGTGCAGAGAGAAATGCCATCGGGGAAATTATCACTGTCTTTTTGGCTAAAGTTTTATATTGTGAACTGGATCCCACTTAACAGCTTAAAAACACAAAAATGAAAGGGTAGTCCTAGTTTATCTTCTTAATTAGAATCATTATTTGGAAATAAGATTTGCAATGTGCTGTCTATCCCCAAACACTGCTGAGCTTGCTGGAAAACAGAATTTAACATGAATGTTGTCTGAAAGCTGTAGGATCAATGGCAAAAAAGGGGAAATGTTTGGTAGGGAATTGGACCAGTTCTAAGGTATCACTTTTAATTATAAAATAATGTCTTCCTTTTTATCTGCTTTTCAGACAGCCTCAGTGAACTATTAAACATTTGTGTGCAAAGTCCTATTTTGCTTATCTAAGGCATTTTGACTTGGAAGTATTAAACTTCAGGAACGAGCTAGAGAAGACAATGAGGGTATGTTAGAGAAGGAAAAATAGGAGCTTTTTGCTTATGGATTTTAGAGGTCCACAAATCGAAAGGAAAAATAAATTTCTTCATTTCTAACCCTAAAATAATTTTGTTAATGAGATGCTGGGAAGAAGACTACCAAAAGGCCTCAAAGCTCATGCTTCTAGAATATTCAGTAATTCTGAATAGTCTTTGGGAAGTAGCATTTCTTGGGAAGTAGCATTTCCCTTCTTCCAAATAACTGTTTGAGATCTTAAAACAGAAAATCCAGTGTTAATGGGCTCTAGATCTTAAACTAGGTGAGCAGCTTCTTACATACAACCAGTTCCTTGTTAAGGATCCAGCAGGAAAACCAGCCATAAAACATTTCAACATGCAGTTTGGGGGCTCCCTTGCTTATTCACTGAGTTTAAGCTCTTGCTGCAACATAGCTCTGTACCATCTGGGATGCTAGCAGTCACAGCAGTTAGCTCAGATATCTGAGCTGTCTGCCACACAAAGCCTGAGGAGATCATCATTCTTCAGTTTCATTCATTACTTAATGAATGCCAAATTAATTGGCAGGAAGAAGAAACACTGTGTGATATACTGAACAAGCCTGTGTGCATGAATAAGGAGCCACTCAAAAAGCCAATTTTGAGCTTTATTTCTCCGTTGTTAACAAATCTCAAGAAAGCCTTTGTTACAGTTTAGCTCATGTCATTTGGTTGGTTTTATTTTCTAGCCCTTTAACATAGGAGGAAAATTGTCATTTCATGTATAACTTGTAACACAGAATTGAACTGATACTAGTTTCCTTGCCTTAAATTAATTATATGTCATCCCAAGGGTCTCTGTTAATTCTGCTTTGCCAAGCAATAATGAGATCTGGGTTTGGCATTAGAAGTATTTCATAATTTTGGTTTTTTATTTAGGTTTCCTCCACATCTGTAAAGTGATTGATTAAATTAGAGGAGGCGTGTAGAATAAATCCCAATCCCATTGCAACTGGCAGAGCTTTATAAATCTTTATAAATTCAGTTACAACAAAGGAGAGGATCCTACACCATTAGAGCCATGCCATCAGGTGTTTGCAAGTGACAGCTGTAGTGTGTTGCCTCAAATAATACCAAGTTATAAATAATACCAAGTAATTATCAACTCACTCCCAAATTTAATAAGATATCAAAGTCCAAAAGGTTACTTAGGAGTAGTCTTCCGTGGGGGAAGATAAATTTATTAAAGAGTCATGTACTGATCTTTTTCTTGGGATTTTTTTTCCTTTCCCAGAAAAAAAAATTATTTTGGTGACTGATCAATTGTAAACAATTTTCTTCCTTACTTACAAATCATCCGTTCAGAAAAATAAAAGTGGACTTCCTTTCCTAAGCATTACAATTAGCCTGGGCAAGAGGTGTTATGATTGTCTTATTCTTTAAGCCGGCTTACTTTTTGGATTTGTGTGAAATGTCTTTTGAAAAGAAAGTAGATAGTATAGTATTAATTAACTACTTTGTATAGTCTTCTGCATAATTTAGAGTTGAAAATAATGTAACATTTTCCTGTGAACAGATTCCTTTATGCGTACATACTTTATAAATATACATACATACACATACACATACATTTTTAAAATGCTCTTTTTAAAGAGATTCTTATCTTGCTCCCACTCCAAAAGCTATGTACAGTTGAGTTATTAGCCTCAGAGGAAGAGTACAGGAAAGCGAAGATGAGGACCTCCTTTTCTTGTGTTGGTCTTGGGAACAAACAGTATTCCGTCTTTCAAATATGGCATATTTCTAAACAGTTTGGGAAAGATGTTAGAATTTTTTAAAAGTCAGCTCTTTTATAAATTGGAAGTACTCAGTAGTCAGAAATTAAGATCCCCTCTGATAGAGATAGATTCTCAAAACCAAAATTGGACTGAAAATTAGATTGAGAAGAAAGATACAACTTCCTCCATAGCCAATAAAATCTGTCTTTCCAAGTCTGCTTATTAATGCTGTGAATCGCTCCTTCTGTTTGTGAAAACATCTCCTGGACTGGAAATGTGGTGCTGTAACCAGCTGAGCCGAAAGTTGGAGAATGTTAAATATCTTATATGGGACTTACGATAAAATGTATTGATGTTAGTGATTGTCAAAATAGGTTTATCATTTAAAAAACTAGGAAATTACTAAGTATAAAGAAGAAAAACCAGTATTAATTAAGTGATGAGACCTGTTCATTTTGTTTTCCCTGACTTATTTCCATTACCAAACATAGTAAAGGCCAGAAAAGATTAAAAAAAAAATTAACACAGCCATTCCATTGTTTTTTACCACATGGAGAAAGGACCAGGCTGGAAGCATATGTCCCCCCACCCTTATTTATATTCCTTTGAGCATTGCCGTTTTCTAGACAGACAATCCGAAAATAATTGTGTTGATAGGTCTGTTTAAGCCTGAACTCTGGGTGTAAAATGTTATCCAGAAGCTATAGGGAGCTGCCTTGCTCAGGTCATTGGAAATTTCAACCCTAAGACTCATTGGAATTTCTAAGTCCGTTATGCACCATTATGGGCATATGGAGCATATTCATACCATGAGGAGGAGTCTTTGTTTATGATGGACTTTTTAATATGGCCATAATTAAACTCACACTCAAAAAGGATGAGCTATTGTCAAAAGCCAAAAGAAAAACAGACAAAATGAACATGAAGCAAGGAGTCCATAAAACAAGAGTTCTTTACCACGTTTAAGCAAATGTCTCTCAAAAAAAATTGTATTTCTGTGCACATTAGCTGAGATTCACACATTTTGCACCTCAGTAGTATTTCAGATGAGACTCAATGTGTGGAGAAAACCGCTAACTTGTTTGGTTCTACTCTTACCCCCTCTTCTGTGGCAATGTGGGGTCAGGGCCGTATCCTAAAGTATCCACATGGTCTTAAATGGAAATCATGGGACTCTGGAAAGCTGGCATGAGCTGGTTGGAGCTTTTAAACAGAAGTGCTTTATGGGTATCAGATCTCTTCTGACATCAATTGTTTCAAATCATTGTTGGGCTCTGTCGTGTTCTGCAATCTTCCCCATTCCCCTCATGATCTCTGGCTTATCTTTTATCCAATCTGTATGGACTTTTTAGGATTTTTTTTTTCTTATAGTACAAATAATTTTCAGATCCCAGCTTTGGTAAATGTGTTAATTCTACTTTGTGAATAAATAAATGAGTGATCTGCTAAAAATGGCAATTGTAGAATTATGTTGTATGTAATGTACATATGGAGAAAGAATGTATTTTGTTCATTTTCTTAATAAAATGTTATATATGGATGCTA)$ . 01CO005 ENSG00000231806.3 ENSG00000224245.1(41759),ENSG00000231806.3(416) +/+ ./+ chr9:94555244 chr9:94554638 exon intergenic duplication 1 1 0 13 16 medium . . . . . ENSG00000231806.3 . ENST00000647389.1 . downstream upstream duplicates(1) GTTTCCGTGTGTTTCTATTGAGCTGCTCAGTGCCCGGCTTgGAAGACCAGGAAggGGAGTCACAGGTCGTATGCTGGAGGCTTGAGCCGCGG|AGGCGCAAGCTCCGGCTCCAGCCTCCAGCACGCGGCGGTGCCTCTTCTTTCTGTCTTCCAGCCCGGCAGGAGAAGCTCTCGCTGCTAGCCTCCCTCCTACCGCTCCGTCACCACCACCACCAACAGGGAGGGAGTGCCCCAGGCTCCAGGCTCCAAG . 01CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 10 0 32 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(1),mismatches(1) CCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGC(TACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO006 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 7 0 17 14 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCC)CGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCaCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAA MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednye 01CO006 ENSG00000049618.24 ENSG00000130363.12 +/+ -/- chr6:157133207 chr6:158980936 CDS/splice-site CDS/splice-site inversion 2 3 0 14 13 high out-of-frame . . . . ENSG00000049618.24 ENSG00000130363.12 ENST00000346085.10 ENST00000367069.7 downstream downstream . ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG___GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG___GACTCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG___ATGCCACCTCAGTATGGACAGCAAGGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAG___GACATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA___GATCTGTCTGGCTCCATTGATGACCTCCCCACGGGAACGGAAGCAACTTTGAGCTCAGCAGTCAGTGCATCCGGGTCCACGAGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTCTCCCCACATGCGTCCCCTCATCTCTCCAGCATCCCGGGGGGCCCATCTCCCTCTCCTGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCCCAG___GTAGTCAGATGCCTCCGCAGCCACCCGGGAGCCAGTCAGAATCCAGTTCCCATCCCGCCTTGAGCCAGTCACCAATGCCACAGGAAAGAG___GTTTT)ATGGCAGGCACACAAAGAAACCCTCAGATGGCTCAGTATGGACCTCAACAGACAGGACCATCCATGTCGCCTCATCCTTCTCCTGGGGGCCAGATGCATGCTGGAATCAGTAGCTTTCAGCAGAGTAACTCAAGTGGGACTTACGGTCCACAGATGAGCCAGTATGGACCACAAG|GAACGGCGTAAGAAACAGCAGTGGGAAATAATGCACAAGCACAACGAGACATCACAAAAAATCGCCGCCCGAGCATTTGCACAGCGTTACCTGGCTGACCTTCTCCCGTCTGTTTTTGGCAGCCTCAGGGATAGTGGC(TACTTTTATGATCCCATTGAAAGAG___ATATTGAGATAGGATTTCTTCCATGGCTAATGAATGAAGTTGAAAAAACCATGGAATATAGCATGGTGGGAAGAACAGTGCTTGACA___TGTTGATCCGTGAGGTGGTTGAAAAGAGGCTGTGTATGTATGAGCATGGGGAAGACACACATCAGTCTCCAGAACCCGAGGATGAGCCTGGTGGTCCTGGAGCAATGACAGAGTCACTGGAGGCCTCTGAATTCCTGGAGCAGAGCATGTCACAGACACGGGAGCTGCTTTTAGATGGAGGCTACCTACAAAGAACAACATATGACAGAAGGTCATCCCAGGAAAGGAAGTTTATGGAAGAGAGAGAACTCTTAGGGCAAGATGAAGAAACAGCAATGAGGAAGTCCTTAGGGGAGGAAGAATTGTCATAGGAGGGAAGCTTCAAAGTCATGAAACCAATCAACAGCCAAGTCAGCAAGCAATCAGGTAATGATGTGCGAGTCCCCTCAGGTTATAGAAATTATGTTGTATTTAGTCAGTATGTCTTTTTGTGTAATGGACTGGGCCAATCAAATGTGATAAAATTAATTTGAGAATGAAACTTAAATTGAATTCATTTATTTAATAGAATATTCAAAGGCTATATTGTAATTCTAATGAGAATTATATTTAATTACTAGCTTTCTATTACCATTATATGTAACCAGCAAATATATTTTTCCTTAGCCCTTCTAATTTTGCGGGTTAGTTTTTTTTAGTAAGTATGATATTTAATGTTCAATATCAGTGCTGTCAGCCATATAGCTTTTCTTCTCTATAGGAAAACTATTTCACCTACTGTAAGAGTGAATGCCTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGATCCCCTGAGGTCGGGAGTTTGAGACCAGCCAGACCAACAAGGAGAAACCCCATCTCTGCTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGGCGGAGGTTGCGGTGAGCCAAGTTTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAGAGAGAGAATGCCTAAACGTTGTGCTACTGAAAGCCACAGTGCTCCCTTCCTGCAAGGACCATCTTCAATATTCAAGTAAGGCTTAAGGAATTCAGTGGATTAGTATATGCTCTCATCTATTTTTTCACATTCCTACTATGAAAAAATTTCAGGCAATGCCAATAAAGCAAAAGTCCCTGTTTGCCCTCATACAGTCTCACTCCCCTCCTCAAAGGTAGATCACTGTTATCAGGTATGAGCTATCTAGGCCTTTTTTGAGGTATTCCTATACAAATGTATTTGAAAATCTAGAAATATATAGCTTGATTTTCTTTATATAAATATAAACATTATTTACATATTTTATTTTTCACTTAAGAGAATGTCTTAGATCTTTCAAGGTTAGTGGCATCAATCTCTTATCTTGTCAAAATATGGTTAAGGTATTACATATTATGACTGTGCTGTAGCATAGGGAATTAACATTTGACTTTTTAATCTGAATGTGTTAGAGAATTTACCTGCAGTATTAAAATCACAAGTTATTTTCTCTCCAAAGCCTTCCTAATCGTAAGCAATAACTGAAGTCTTCAGAGCCTTTAGATAAATAGAGCCTATTTTTCTTTTTACTTATTTTTATTTTTATTTTTTGGAGACAAGGTCTCACTCTGACACCCAGGCTGGAGTGCAGCAGCACCATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAGGTGATCTTCTCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGTGTGCACCACCACGTCTGGCTAGTTACTGTATTTTTTGTAGAGATGGGCTCTTGCTGTGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGACTACAGGCATGAGCCACCGCACCTGGCTGAGTCTGTTTTTCGCAAAATACTTACACATATATAAACGTAGTGATTTAAAATAACTTATAATTATTAACCCATTTACCTTAATTTCTTTTAAGTTAGGTACCAAGAATGTATCCACATTTAAAAAATTTTAAAAGAATGCACCCATTTTCCCATATAGTATTTCACTATAACACTTAGGCCTCATGGCAACCTTCTGAAGAATGCATGACAATATTTGTATTTTTTAGTTTCTAATCCTTAATTCGGTCAGCCAGCAAACATTAGCTGAGTGCCTGCTCTGCCTTGGGAATGAGACTGCAGATACAGCGGTGAACAGTCACGAATACTACATGTTTTTTACAGCCTAGCAGTGGAGCTAAATGAAGTAAATGATGTAAATAAAGAAACCAAAGCTCAGGAATTTAAAGTGATTTGCAATAGATGACGAGCCTAGTAGGGAATAGGACTAAAGCTGGAATCCAAATCTCCTTACTTCTAATCTGGTATACTTTCTTCTAATAACTTGCTGTTTTTGTGAGGTACAAAGAATAATTTAAAATAAATTATTGCACTAATAGCATTTTAAAAATTGGAATCACGCCTCTTATCCATCATGGGGCTGGTTCCATCTTGTTAAACAGTCTTTATGATCATCCTAACATTTATAAGATATTAATTTTGGCAAGAAGACCAAAAATTTTTAATTAGGGCTATTGCTGATTATTATTGTTATTACCAATTTTAAAATATCTACAACTAGCTTTTAGAAACCTTAAAATTGGGCCAGGCACGGTGGCTTGCACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACACGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGAAGACAGAGTGAGACTCCTTCTCAAAAAAAAAAAACCTTAAAATTGATTTGAAGTTGATTATCTTTCATAATCTTCTAATTCTCCTTTAGAATGATCCAGTCCATTAAACACTTTGCAGATGCCAGACCTATGCTCTATAAATCCATAAATTAATTCAATTTATTGAAAGAAGTAGATATCTATAAACCCCACACTGAACTGGTTAAGCTTAATTGCAATCCTAGTCCATCCTAGAGAGAAATCAAAATAATTGAGAGGTTAGGGCATTGTCGCTGTGAGAAAGCTTAGAGGTAACACATTATATGTTATCTGGAGAGAAGAATGTTAAATGGAAACAAAGTTTATGAAGAATTTCTTCAAGTACCTGAAGGACTTTCTGGGAAATTACAAGATAGCATTCTTAGGTTCCATATGTCTAGAAGACTTTTCATAACTGTAAGCAACTTTTGCAAATGGTTTGGGAACATAAAACTCTTCCAGCATAGAAGAAAATGGGTACTATTAACATTCAGATGGTTATGGGACCATCATAACAGTTTGATGTGATATGCAAAATGCTACATCCCCAACTATGACCCTCAGTATGACTTTTAAAGGAATTATAAGCTCCAAATACTTTTTGGAGTATAAACAGTACTTGACTTTTTCACACATTTGCTAATACCCTTCTCATAAGTTTTATTTCTTTCTGATGTTTCAGCTAACACTGAGTTAACAGAAGCTAAATAATAATAAAATGAAGAACAGATAGTAAATATATTGAAATTGTCATTCCTGGCCGGGTGTGGTGGCTTACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCTGGGTATGGTGACGCATGCCTATAATCCCAGCTACTCGGGAGACTGAGGCATAAGAATCACTTGAACCCAGGAGGTCGCGCCGCTGCACTCCAGCCCGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGAAAGAAAAAGAAATTGTCATTCTTAACATAAATTCCCATATCACTAAAATAGATCAGAGAGGTAGAATGAAATTTTCTCTAGCATAGGCATCATTACATTTAAGCCATCTGAGGGCTATGAGCGTGGCCTGCAAAGTCACTCTGAGCAACACAAGGTGGAGTTTGAAAGCAGATTCAAAGCCAGACCACTGGGCTTGAGTCCTCACATGCAAGCATGTAGTCTTCACCATGGAGAAGGGGGTTTGCCTTTCTCAAAGCTTTTTTCTTTTAAATTAAGAAAAAGAACTGATTTATCAGTCTAGTGTTTCATTTTAAAAACATATGAAAGGGTGGGTAACTTGCAGAAGAAAGTATTTGGAGCCTATAATTCCATTAAAAGTTATAATGGCGGTCATAGTTGGGGAAGCAGCATTTTGCATATTATATCAAAATGTTATGGTACCATAACCATCCAAATGTTAATGGTACCAATTTCTTCTATCCTAGAAACATTTCATTTTATGTTGTTGAAACATAACAACTATATCAGCTAGATTTTTTTTCTATGCTTTACCTGCTATGGAAAATTTGACACATTCTGCTTTACTCTTTTGTTTATAGGTGAATCACAGAATGTATTTTTATGTATTCTGTAGTTCAATAGCCATGGCTGTTTACTTCATTTAATTTATTTAGCATAAAGACATTATGAAAAGGCCTAAACATGAGCTTCACTTCCCCACTAACTAATTAGCATCTGTTATTTCTTAACCGTAATGCCTAGGCCTAACCTCAACCAACCTTCCACAATCTTGTTCACAGTCAGAGACCCAAAAAAGAGTGTTATAAGTGGGGTGTCACTATTGTGAAAGTAGTGCTAATGGTGTTGAATTGGTACCTATGATTCTTCTTTTGAATTAGATTGTATGTTTCATGATCTCAACTTACATTACTAAAATTCAATAAACTGATCATTTAGATGA)$ MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQ|gta* 01CO006 ENSG00000229807.12 ENSG00000251526.1 -/- +/- chrX:73843587 chr4:123512867 exon intron translocation/5'-5' 4 8 0 121 22 medium . . . . . ENSG00000229807.12 ENSG00000251526.1 ENST00000429829.6 . upstream downstream mismatches(1) ^(GCTGCAGCCATATTTCTTACTCTCTCGGGGCTGGAAGCTTCCTGACTGAAGATCTCTCTGCACTTGGGGTTCTTTCTAGAACATTTTCTAGTCCCCCAACACCCTTTATGGCGTATTTCTTTAAAAAAATCACCTAAATTCCATAAAATATTTTTTTAAATTCTATACTTTCTCCTAGTGTCTTCTTGACACGTCCTCCATATTTTTTTAAAGAAAGTATTTGGAATATTTTGAGGCAATTTTTAATATTTAAGGAATTTTTCTTTGGAATCATTTTTGGTTGACATCTCTGTTTTTTGTGGATCAGTTTTTTACTCTTCCACTCTCTTTTCTATATTTTGCCCATCGGGGCTGCGGATACCTGGTTTTATTATTTTTTCTTTGCCCAACGGGGCCGTGGATACCTGCCTTTTAATTCTTTTTTATTCGCCCATCGGGGCCGCGGATACCTGCTTTTTATTTTTTTTTCCTTAGCCCATCGGGGTATCGGATACCTGCTGATTCCCTTCCCCTCTGAACCCCCAACACTCTGGCCCATCGGGGTGACGGATATCTGCTTTTTAAAAATTTTCTTTTTTTGGCCCATCGGGGCTTCGGATACCTGCTTTTTTTTTTTTTATTTTTCCTTGCCCATCGGGGCCTCGGATACCTGCTTTAATTTTTGTTTTTCTGGCCCATCGGGGCCGCGGATACCTGCTTTGATTTTTTTTTTTCATCGCCCATCGGTGCTTTTTATGGATGAAAAAATGTTGGTTTTGTGGGTTGTTGCACTCTCTGGAATATCTACACTTTTTTTTGCTGCTGATCATTTGGTGGTGTGTGAGTGTACCTACCGCTTTGGCAGAGAATGACTCTGCAGTTAAGCTAAGGGCGTGTTCAGATTGTGGAGGAAAAGTGGCCGCCATTTTAGACTTGCCGCATAACTCGGCTTAGGGCTAGTCGTTTGTGCTAAGTTAAACTAGGGAGGCAAGATGGATGATAGCAGGTCAGGCAGAGGAAGTCATGTGCATTGCATGAGCTAAACCTATCTGAATGAATTGATTTGGGGCTTGTTAGGAGCTTTGCGTGATTGTTGTATCGGGAGGCAGTAAGAATCATCTTTTATCAGTACAAGGGACTAGTTAAAAATGGAAGGTTAGGAAAGACTAAGGTGCAGGGCTTAAAATGGCGATTTTGACATTGCGGCATTGCTCAGCATGGCGGGCTGTGCTTTGTTAGGTTGTCCAAAATGGCGGATCCAGTTCTGTCGCAGTGTTCAAGTGGCGGGAAGGCCACATCATGATGGGCGAGGCTTTGTTAAGTGGTTAGCATGGTGGTGGACATGTGCGGTCACACAGGAAAAGATGGCGGCTGAAGGTCTTGCCGCAGTGTAAAACATGGCGGGCCTCTTTGTCTTTGCTGTGTGCTTTTCGTGTTGGGTTTTGCCGCAGGGACAATATGGCAGGCGTTGTCATATGTATATCATGGCTTTTGTCACGTGGACATCATGGCGGGCTTGCCGCATTGTTAAAGATGGCGGGTTTTGCCGCCTAGTGCCACGCAGAGCGGGAGAAAAGGTGGGATGGACAGTGCTGGATTGCTGCATAACCCAACCAATTAGAAATGGGGGTGGAATTGATCACAGCCAATTAGAGCAGAAGATGGAATTAGACTGATGACACACTGTCCAGCTACTCAGCGAAGACCTGGGTGAATTAGCATGGCACTTCGCAGCTGTCTTTAGCCAGTCAGGAGAAAGAAGTGGAGGGGCCACGTGTATGTCTCCCAGTGGGCGGTACACCAGGTGTTTTCAAGGTCTTTTCAAGGACATTTAGCCTTTCCACCTCTGTCCCCTCTTATTTGTCCCCTCCTGTCCAGTGCTGCCTCTTGCAGTGCTGGATATCTGGCTGTGTGGTCTGAACCTCCCTCCATTCCTCTGTATTGGTGCCTCACCTAAGGCTAAGTATACCTCCCCCCCCACCCCCCAACCCCCCCAACTCCCCACCCCCACCCCCCACCCCCCACCTCCCCACCCCCCTACCCCCCTACCCCCCTACCCCCCTCTGGTCTGCCCTGCACTGCACTGTTGCCATGGGCAGTGCTCCAGGCCTGCTTGGTGTGGACATGGTGGTGAGCCGTGGCAAGGACCAGAATGGATCACAGATGATCGTTGGCCAACAGGTGGCAGAAGAGGAATTCCTGCCTTCCTCAAGAGGAACACCTACCCCTTGGCTAATGCTGGGGTCGGATTTTGATTTATATTTATCTTTTGGATGTCAGTCATACAGTCTGATTTTGTGGTTTGCTAGTGTTTGAATTTAAGTCTTAAGTGACTATTATAGAAATGTATTAAGAGGCTTTATTTGTAGAATTCACTTTAATTACATTTAATGAGTTTTTGTTTTGAGTTCCTTAAAATTCCTTAAAGTTTTTAGCTTCTCATTACAAATTCCTTAACCTTTTTTTGGCAGTAGATAGTCAAAGTCAAATCATTTCTAATGTTTTAAAAATGTGCTGGTCATTTTCTTTGAAATTGACTTAACTATTTTCCTTTGAAGAGTCTGTAGCACAGAAACAGTAAAAAATTTAACTTCATGACCTAATGTAAAAAAGAGTGTTTGAAGGTTTACACAGGTCCAGGCCTTGCTTTGTTCCCATCCTTGATGCTGCACTAATTGACTAATCACCTACTTATCAGACAGGAAACTTGAATTGCTGTGGTCTGGTGTCCTCTATTCAGACTTATTATATTGGAGTATTTCAATTTTTCGTTGTATCCTGCCTGCCTAGCATCCAGTTCCTCCCCAGCCCTGCTCCCAGCAAACCCCTAGTCTAGCCCCAGCCCTACTCCCACCCCGCCCCAGCCCTGCCCCAGCCCCAGTCCCCTAACCCCCCAGCCCTAGCCCCAGTCCCAGTCCTAGTTCCTCAGTCCCGCCCAGCTTCTCTCGAAAGTCACTCTAATTTTCATTGATTCAGTGCTCAAAATAAGTTGTCCATTGCTTATCCTATTATACTGGGATATTCCGTTTACCCTTGGCATTGCTGATCTTCAGTACTGACTCCTTGACCATTTTCAGTTAATGCATACAATCCCATTTGTCTGTGATCTCAGGACAAAGAATTTCCTTACTCGGTACGTTGAAGTTAGGGAATGTCAATTGAGAGCTTTCTATCAGAGCATTATTGCCCACAATTTGAGTTACTTATCATTTTCTCGATCCCCTGCCCTTAAAGGAGAAACCATTTCTCTGTCATTGCTTCTGTAGTCACAGTCCCAATTTTGAGTAGTGATCTTTTCTTGTGTACTGTGTTGGCCACCTAAAACTCTTTGCATTGAGTAAAATTCTAATTGCCAATAATCCTACCCATTGGATTAGACAGCACTCTGAACCCCATTTGCATTCAGCAGGGGGTCGCAGACAACCCGTCTTTTGTTGGACAGTTAAAATGCTCAGTCCCAATTGTCATAGCTTTGCCTATTAAACAAAGGCACCCTACTGCGCTTTTTGCTGTGCTTCTGGAGAATCCTGCTGTTCTTGGACAATTAAAGAACAAAGTAGTAATTGCTAATTGTCTCACCCATTAATCATGAAGACTACCAGTCGCCCTTGCATTTGCCTTGAGGCAGCGCTGACTACCTGAGATTTAAGAGTTTCTTAAATTATTGAGTAAAATCCCAATTATCCATAGTTCTGTTAGTTACACTATGGCCTTTGCAAACATCTTTGCATAACAGCAGTGGGACTGACTCATTCTTAGAGCCCCTTCCCTTGGAATATTAATGGATACAATAGTAATTATTCATGGTTCTGCGTAACAGAGAAGACCCACTTATGTGTATGCCTTTATCATTGCTCCTAGATAGTGTGAACTACCTACCACCTTGCATTAATATGTAAAACACTAATTGCCCATAGTCCCACTCATTAGTCTAGGATGTCCTCTTTGCCATTGCTGCTGAGTTCTGACTACCCAAGTTTCCTTCTCTTAAACAGTTGATATGCATAATTGCATATATTCATGGTTCTGTGCAATAAAAATGGATTCTCACCCCATCCCACCTTCTGTGGGATGTTGCTAACGAGTGCAGATTATTCAATAACAGCTCTTGAACAGTTAATTTGCACAGTTGCAATTGTCCAGAGTCCTGTCCATTAGAAAGGGACTCTGTATCCTATTTGCACGCTACAATGTGGGCTGATCACCCAAGGACTCTTCTTGTGCATTGATGTTCATAATTGTATTTGTCCACGATCTTGTGCACTAACCCTTCCACTCCCTTTGTATTCCAGCAGGGGACCCTTACTACTCAAGACCTCTGTACTAGGACAGTTTATGTGCACAATCCTAATTGATTAGAACTGAGTCTTTTATATCAAGGTCCCTGCATCATCTTTGCTTTACATCAAGAGGGTGCTGGTTACCTAATGCCCCTCCTCCAGAAATTATTGATGTGCAAAATGCAATTTCCCTATCTGCTGTTAGTCTGGGGTCTCATCCCCTCATATTCCTTTTGTCTTACAGCAGGGGGTACTTGGGACTGTTAATGCGCATAATTGCAATTATGGTCTTTTCCATTAAATTAAGATCCCAACTGCTCACACCCTCTTAGCATTACAGTAGAGGGTGCTAATCACAAGGACATTTCTTTTGTACTGTTAATGTGCTACTTGCATTTGTCCCTCTTCCTGTGCACTAAAGACCCCACTCACTTCCCTAGTGTTCAGCAGTGGATGACCTCTAGTCAAGACCTTTGCACTAGGATAGTTAATGTGAACCATGGCAACTGATCACAACAATGTCTTTCAGATCAGATCCATTTTATCCTCCTTGTTTTACAGCAAGGGATATTAATTACCTATGTTACCTTTCCCTGGGACTATGAATGTGCAAAATTCCAATGTTCATGGTCTCTCCCTTTAAACCTATATTCTACCCCTTTTACATTATAGAAAGGGATGCTGGAAACCCAGAGTCCTTCTCTTGGGACTCTTAATGTGTATTTCTAATTATCCATGACTCTTAATGTGCATATTTTCAATTGCCTAATTGATTTCAATTGTCTAAGACATTTCAAATGTCTAATTGATTAGAACTGAGTCTTTTATATCAAGCTAATATCTAGCTTTTATATCAAGCTAATATCTTGACTTCTCAGCATCATAGAAGGGGGTACTGATTTCCTAAAGTCTTTCTTGAATTTCTATTATGCAAAATTGCCCTGAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCCCTTACTGCCAGGAGTTTGAGACCAGCCTGGCCAACATTAAAAAAAAAAAAAAGTAAGACAATTGCCCTGGAATCCCATCCCCCTCACACCTCCTTGGCAAAGCAGCAGGAGTGCTAACTAGCTAGTGCTTCTTCTCTTATACTGCTTAAATGCGCATAATTAGCAGTAGTTGATGTGCCCCTATGTTAGAGTAGAATCCCGCTTCCTTGCTCCATTTGCATTACTGCAGGAGCTTCTAACTAGCCTGAATTCACTCTCTTGGACTGTTAATGTGCATACTTATATTTGCTGCTGTACTTTTTTACCATGTAAGGACCCCACCCACTGTATTTACATCCCAGCTGGAAGTACCTACTACTTAAGACCCTTAGACTAGTAAAGTTAGCGTGCATAATCTTAGGTGTTATATACACATTTTCAGTTGCATACAGTTGTGCCTTTTATCAGGACTCCTGTACTTATCAAAGCAGAGAGTGCTAATCAATATTAAGCCCTTCTCTTCGAACTGTAGATGGCATGTAATTGCAGTTGTCAATGGTCCTTCAATTAGACTTGGGTTTCTGACCTATCACACCCTCTTTGCTTTATTGCATGGGGTACTATTCACTTAAGGCCCCTTTCTCAAACTGTTAATGTGCCTAATGACAATTACATCAGTATCCTTCCTTTTGAAGGACAGCATGGTTGGTGACACCTAAGGCCCCATTTCTTGGCCTCCCAATATGTGTGATTGTATTTGTCGAGGTTGCTATGCACTAGAGAAGGAAAGTGCTCCCCTCATCCCCACTTTTCCCTTCCAGCAGGAAGTGCCCACCCCATAAGACCCTTTTATTTGGAGAGTCTAGGTGCACAATTGTAAGTGACCACAAGCATGCATCTTGGACATTTATGTGCGTAATCGCACACTGCTCATTCCATGTGAATAAGGTCCTACTCTCCGACCCCTTTTGCAATACAGAAGGGTTGCTGATAACGCAGTCCCCTTTTCTTGGCATGTTGTGTGTGATTATAATCGTCTGGGATCCTATGCACTAGAAAAGGAGGGTCCTCTCCACATACCTCAGTCTCACCTTTCCCTTCCAGCAGGGAGTGCCCACTCCATAAGACTCTCACATTTGGACAGTCAAGGTGCGTAATTGTTAAGTGAACACAACCATGCACCTTAGACATGGATTTGCATAACTACACACAGCTCAACCTATCTGAATAAAATCCTACTCTCAGACCCCTTTTGCAGTACAGCAGGGGTGCTGATCACCAAGGCCCTTTTTCCTGGCCTGGTATGCGTGTGATTATGTTTGTCCCGGTTCCTGTGTATTAGACATGGAAGCCTCCCCTGCCACACTCCACCCCCAATCTTCCTTTCCCTTCCGGCAGGGAGTGCCCTCTCCATAAGACGCTTACGTTTGGACAATCAAGGTGCACAGTTGTAAGTGACCACAGGCATACACCTTGGACATTAATGTGCATAACCACTTTGCCCATTCCATCTGAATAAGGTCCTACTCTCAGACCCCTTTTGCAGTACAGCAGGGGTGCTGATCACCAAGGCCCCTTTTCTTGGCCTGTTATGTGCGTGATTATATTTGTCTGGGTTCCTGTGTATTAGACAAGGAAGCCTTCCCCCCGCCCCCACCCCCACTCCCAGTCTTCCTTTCCCTTCCAGCAGGGAGTGCCCCCTCCATAAGATCATTACATTTGGACAATCAAGGTGCACAATTATAAGTGACCACAGCCATGCACCTTGGACATTATTGGACATTAATGTGCGTAACTGCACATGGCCCATCCCATCTGAATAAGGTCCTACTCTCAGATGCCCTTTGCAGTACAGCAGGGGTACTGAATCACCAAGGCCCTTTTTCTTGGCCTGTTATGTGTGTGATTATATTTATCCCAGTTTCTGTGTAATAGACATGAAAGCCTCCCCTGCCACACCCCACCTCCAATCTTCCTTTCCCTTCCACCAGGGAGTGTCCACTCCATATACCCTTACATTTGGACAATCAAGGTGCACAATTGTAAGTGAGCATAGGCACTCACCTTGGACATGAATGTGCATAACTGCACATGGCCCATCCCATCTGAATAAGGTCCTACTCTCAGACCCTTTTTGCAGTACAGCAGGGGTGCTGATCACCAAGGCCCCTTTTCCTGGCCTGTTATGTGTGTGATTATATTTGTTCCAGTTCCTGTGTAATAGACATGGAAGCCTCCCCTGCCACACTCCACCCCCAATCTTCCTTTCCCTTCTGGCAGGAAGTACCCGCTCCATAAGACCCTTACATTTGGACAGTCAAGGTGCACAATTGTATGTGACCACAACCATGCACCTTGGACATAAATGTGTGTAACTGCACATGGCCCATCCCATCTGAATAAGGTCCTACTCTCAGACCCCTTTTGCAGTACAGTAGGTGTGCTGATAACCAAGGCCCCTCTTCCTGGCCTGTTAACGTATGTGATTATATTTGTCTGGGTTCCAGTGTATAAGACATGGAAGCCTCCCCTGCCCCACCCCACCCTCAATCTTCCTTTCCCTTCTGGCAGGGAGTGCCAGCTCCATAAGAACCTTACATTTGGACAGTCAAGGTGCACAATTCTAAGTGACCGCAGCCATGCACCTTGGTCAATAATGTGTGTAACTGCACACGGCCTATCTCATCTGAATAAGGCCTTACTCTCAGACCCCTTTTGCAGTACAGCAGGGGTGCTGATAACCAAGGCCCATTTTCCTGGCCTGTTATGTGTGTGATTATATTTGTCCAGGTTTCTGTGTACTAGACAAGGAAGCCTCCTCTGCCCCATCCCATCTACGCATAATCTTTCTTTTCCTCCCAGCAGGGAGTGCTCACTCCATAAGACCCTTACATTTGGACAATCAAGGTGCACAATTGTAAGTGACCACAACCATGCATCTTGGAAATTTATGTGCATAACTGCACATGGCTTATCCTATTTGAATAAAGTCCTACTCTCAGACCCCCTTTGCAGTATAGCTGGGGTGCTGATCACTGAGGCCTCTTTGCTTGGCTTGTCTATATTCTTGTGTACTAGATAAGGGCACCTTCTCATGGACTCCCTTTGCTTTTCAACAAGGAGTACCCACTACTTTTTAAGATTCTTATATTTGTCCAAAGTACATGGTTTTAATTGACCACAACAATGTCCCTTGGACATTAATGTATGTAATCACCACATGGTTCATCCTAATTAAACAAAGTTCTACCTTCTCACCCTCCATTTGCAGTATACCAGGGTTGCTGACCCCCTAAGTCCCCTTTTCTTGGCTTGTTGACATGCATAATTGCATTTATGTTGGTTCTTGTGCCCTAGACAAGGATGCCCCACCTCTTTTCAATAGTGGGTGCCCACTCCTTATGATCTTTACATTTGAACAGTTAATGTGAATAATTGCAGTTGTCCACAACCCTATCACTTCTAGGACCATTATACCTCTTTTGCATTACTGTGGGGTATACTGTTTCCCTCCAAGGCCCCTTCTGGTGGACTATCAACATATAATTGAAATTTTCTTTTGTCTTTGTCAGTAGATTAAGGTCATACCCCATCACCTTTCCTTTGTAGTACAACAGGGTGTCCTGATCAACCAAAGTCCTGTTGTTTTGGACT)GTTAATATGTGCAATTACATTTGaaCCTGATCTGTGCACTAGATAAGGATCCTACCTACTTTCTTAGTGTTTTTAGCAGGTAGTGCCCACTACTCAAGACTGTCACTTGGAATGTTCATGTGCACAAACTCAATTCTCTAAGCATGTTCCTGTACCACCTTTGCTTTAGAGCAGGGGGATGATATTCACTAAGTGCCCCTTCTTTTGGACTTAATATGCATTAATGCAATTGTCCAC|AAAATCATGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATGAAGCTACCAATGTCTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCTGCATTGCCAAGACAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTAtCAAAACATAGATACAAACCAATGGAACAG . 01CO008 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 10 0 12 72 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAG(ACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01CO008 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 13 10 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 . GTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCG(CTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO013 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 33 27 3 74 89 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(2),mismappers(2),mismatches(1) CATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO013 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 21 0 26 89 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) AGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTG(GAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01CO013 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 11 0 25 24 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismappers(2) AAGCAGGAAATCCCAGAGCTTCAAACTG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGC(CTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01CO013 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 5 0 164 26 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___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAG)TTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO013 ENSG00000168306.13 ENSG00000163689.20 -/- -/- chr3:58522496 chr3:58753863 CDS/splice-site CDS/splice-site duplication 3 0 0 29 32 medium out-of-frame . Acyl-CoA_dehydrogenase__middle_domain(100%),Acyl-CoA_oxidase(100%),Acyl-coenzyme_A_oxidase_N-terminal(100%)| . . ENSG00000168306.13 ENSG00000163689.20 ENST00000459701.6 ENST00000295966.11 upstream downstream . ^(ACAAGGGCTTGAGAGCTGGCCAAGCAGTTTCTCTCAGCTTCTGTGTTCCAGCCCCTATGTGGGAGGAGAGAAGGGCAGGACCACAAGCCTGCCAGAGGCTGCGGCCTACAGCCGGGGAGAGGCCAGCCCGGCCTACAGTGCGGACACAGGACAGAGGGGAGCCAG___GTTCTTTGCACTGACCAATGCTGAGAGCAGACCCTCGGAGCAGCCGGGTTGGAAGTGTCTCTCCATAGTCACCAGACAGATCCAGGATAGGATGGGCAGCCCAGTGCACCGAGTGTCATTGGGGGATACCTGGAGCAGGCAAATGCACCCCGACATAGAGAGCGAGAGGTATATGCAGTCCTTTGACGTGGAACGGCTCACCAACATCCTTGATGGAGGTGCCCAGAACACTGCACTCCGCAGGAAAGTTG___AGAGCATCATCCACAGTTACCCGGAGTTTAGCTGTAAGGACAATTATTTCATGACCCAGAATGAGCGTTATAAGGCTGCCATGCGGAGGGCATTCCACATCCGGTTGATAGCTCGGCGCCTGGGTTGGTTAGAAGATGGTCGTGAATTAGGCTACGCTTACAG___AGCCCTTTCTGGAGACGTGGCCTTAAATATACACAGAGTCTTCGTGAGAGCCCTCAGGAGCCTGGGCTCAGAGGAGCAGATTGCCAAATGGGACCCACTCTGCAAAAACATCCAGATCATCGCAACGTATGCACAGACAGAGTTGGGACATG___GGACATATCTTCAGGGCCTGGAGACTGAAGCCACCTATGACGCAGCCACCCAGGAGTTTGTGATACACAGCCCCACGCTGACTGCCACCAAATGGTGGCCTGGAGACT___TGGGACGGTCAGCCACCCATGCCCTGGTCCAGGCCCAGCTGATCTGCTCAGGAGCCAGGCGGGGCATGCACGCTTTTATTGTGCCAATCCGGAGTCTTCAGGACCACACCCCACTGCCAG___GAATCATCATTGGGGACATCGGACCCAAGATGGACTTTGATCAAACAGACAATGGCTTCCTGCAGCTGAACCAT___GTCTTGCCAGATGGCACCTACGTCAAACTCGGTACAGCACAGAGCAACTACCTTCCCATGGTGGTGGTGCGGGTGGAGCTGCTGTCAGGGGAGATCCTCCCTATACTGCAGAAGGCCTGTGTCATCGCCATGCGCTACTCGGTCATCCGCCGCCAATCCCGGCTCCGGCCCAG___TGACCCAGAGGCAAAGGTCCTGGACTACCAGACACAACAGCAGAAACTCTTTCCTCAGCTGGCCATCAGTTATGCCTTCCATTTCCTGGCAGTCAGCCTCTTGGAGTTCTTCCAGCACTCCTACACTGCCATTCTGAACCAAGACTTCAGCTTCCTGCCTGAG___CTCCACGCACTGAGCACGGGCATGAAGGCCATGATGTCAGAATTCTGCACCCAGGGAGCTGAGATGTGCCGCAGGGCCTGTGGCGGACATGGCTACTCAAAGCTGAGTGGCCTGCCATCACTGGTCACCAAATTGTCGGCCTCCTGTACCTACGAGGGTGAGAACACAGTGCTCTACCTGCAGGTGGCCAG___GTTCCTGGTGAAGAGCTACCTGCAGACTCAGATGTCCCCTGGCTCCACGCCACAGAGATCTCTCTCTCCATCTGTCGCATATCTCACCGCACCTGACCTGGCCAGGTGTCCAGCCCAGAGGGCAGCCGACTTCCTCTGCC)CGGAGCTCTACACCACGGCCTGGGCACATGTGGCAGTAAG___GCTCATAAAGGACTCAGTGCAGCATTTACAGACCCTGACGCAATCCGGAGCTGACCAGCACGAGGCTTGGAACCAGACCACTGTCATACACCTCCAGGCTGCTAAG|GGACTGGTTAAATATGTTGAGCCCACCAATCGTTCCTCCCAGTCAACAGCCGGCTGAGCAGCGTCCAGATTCCTGTGAAAGTTTGAGTGTTCAAG(___GTGAAGAAGACCTCAGTGTGGAAGAGGACGAGGAAGTACTGACTTTGTTGTATGACCCTTGTCTGAACTGTTACTTTGACCCCCAAACAGGGAAATACTATGAGTTGGTATAATGCCTCCTTCCGGGGCAGAGAGCAGGCACTCCCAGCTGGAGCAGAATAGCAGTTCAGGGTCGCTTAAGGAGTCACCACAACTTATGTGTTGGGTGACCACAAAATCAACAGTAACTGAGAGAAACGAATTCATTTTGTAAATAATGTTCAACGTTAAGAATACCTATATTCCTTTTGTAGATGAGTATGATTTTGAAACTGAAGAAATTAATACAGAGGCAAGATTTTAGGAGTTTGAATTGGTTCTTGTTTGTTCTCATTCTACATATAATTTTGTTTATTTCAGATAATTTTATGTAAACAAATTAAGAGTTATTCATTCAAATTTTTTGCAGTGTTAATCTGTAAATGATGGCTTGATGTACAGAAAATGTATTTTTGCTTAAAAGATGCCTGGGTACCTTTTATTTTATGGCATTTGTATTAAAAATAAAGTATGATGGTAAGAAGAATA)$ MGSPVHRVSLGDTWSRQMHPDIESERYMQSFDVERLTNILDGGAQNTALRRKVESIIHSYPEFSCKDNYFMTQNERYKAAMRRAFHIRLIARRLGWLEDGRELGYAYRALSGDVALNIHRVFVRALRSLGSEEQIAKWDPLCKNIQIIATYAQTELGHGTYLQGLETEATYDAATQEFVIHSPTLTATKWWPGDLGRSATHALVQAQLICSGARRGMHAFIVPIRSLQDHTPLPGIIIGDIGPKMDFDQTDNGFLQLNHVLPDGTYVKLGTAQSNYLPMVVVRVELLSGEILPILQKACVIAMRYSVIRRQSRLRPSDPEAKVLDYQTQQQKLFPQLAISYAFHFLAVSLLEFFQHSYTAILNQDFSFLPELHALSTGMKAMMSEFCTQGAEMCRRACGGHGYSKLSGLPSLVTKLSASCTYEGENTVLYLQVARFLVKSYLQTQMSPGSTPQRSLSPSVAYLTAPDLARCPAQRAADFLCPELYTTAWAHVAVRLIKDSVQHLQTLTQSGADQHEAWNQTTVIHLQAAK|glvkyveptnrssqstag* 01CO014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 20 0 46 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(4),low_entropy(3) GGGGGAGCGCGCCATGCCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCgCAAGGCGCATTACGGGGGG...CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAG(AACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO014 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 3 0 210 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),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAG)CCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO014 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 3 7 1 14 14 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream . AGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGC(CAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 01CO014 ENSG00000128512.23 ENSG00000184903.10 -/- -/- chr7:111935540 chr7:111487341 CDS/splice-site CDS/splice-site deletion 0 2 0 7 36 medium out-of-frame . DOCK_N-terminus(100%),Variant_SH3_domain(100%)|Peptidase_S24-like(100%) . . ENSG00000128512.23 ENSG00000184903.10 ENST00000437633.6 ENST00000405709.7 upstream downstream . ^(GAATCAGAACAATGACTGCGCCGCCGGGTACCCGGGAGCGCGTCGGAGGACTGTGAGCAGCCGCCGCCGGGAGAGCTGCGGGCGGCGCAGTGTCAACGCTGGGCTCGGGAGCCTCCAGCGCAGATCCTGCCCAGCGCCCGCAGCCCGCGCGAAGCCGCTGGGCTCCGGCACTGCAGCGCTGCTCGGGGACTGTGCATTGTTGTGAGCCGGAGAAGGGGCGCGGGGATTACAAAGCCTGAAGACCCCGGAGCCCCTTTAGCCATGTGGATACCTACGGAGCACGAGAAATACGGCGTGG___TTATTGCCAGTTTCCGAGGAACCGTTCCATATGGCCTGTCATTGGAAATTGGAGATACAGTTCAGATCCTGGAGAAGTGTGATG___GCTGGTACAGAGGATTTGCCTTAAAAAACCCAAATATCAAG___GGTATATTTCCTTCCAGCTACGTTCACTTGAAAAATGCCTGTGTAAAGAACAAAGG___ACAATTTGAAATGGTTATTCCCACTGAAGACTCTGTTATCACAGAAATGACATCAACATTAAGAGACTGGGGAACCATGTGGAAACAACTCTATGTG___CGTAATGAAGGCGATCTCTTCCACCGGCTGTGGCACATCATGAATGAAATCCTGGACCTGAGGCGGCAGGTGCTGGTGGGCCACCTCACCCACGACCGGATGAAGGACGTGAAGCGCCACATTACTGCCCGGCTTGACTGGGGCAATGA___ACAACTGGGACTGGACCTGGTGCCTAGGAAAGAGTACGCAATGGTGGATCCGGAAGACATCAGCATTACTGAGCTCTACCGATTG___ATGGAACATCGACATCGGAAGAAAGACACCCCGGTGCAGGCCAGCAGTCACCACCTCTTTGTCCAGATGAAGAGCCTCATGTGTTCCAACCTGGGAGAGGAGCTGGAGGTCATCTTCTCACTCTTTGACAGTAAAGAGAACCGGCCAATCAG___TGAGAGATTTTTCTTGAGGCTGAATAGAAACGGGCTTCCCAAAGCCCCTGATAAACCGGAACGACATTGCTCCCTCTTTGTG___GATTTGGGCAGCAGTGAGCTAAGAAAGGACATTTATATCACCGTGCACATTATCCGAATCG___GTCGAATGGGAGCAGGAGAAAAAAAGAATGCCTGTAGTGTCCAGTACCGACGACCCTTTGGCTGTGCAGTTCTTAGCATCGCTGACCTGCTAACAGGAGAGACAAAGGATGACCTCATTCTGAAAGTATACAT___GTGTAACACAGAGAGTGAGTGGTACCAAATCCATGAGAACATCATCAAAAAGCTGAATGCAC)GTTATAACTTGACTGGCTCCAATGCAG|CCTTCTTTGAATCCTGGGGGGAGCCAGTCATCTGATGTGGTGCTTTTGAACCACTGGAAAGTGAGGAATTTTGAAGTACACCGTGGTGACATTGTATCATTGGT(___GTCTCCTAAAAACCCAGAACAGAAGATCATTAAGAGAGTGATTGCTCTTGAAGGAGATATTGTCAG___AACCATAGGACACAAAAACCGGTATGTCAAAGTCCCCCGTGGTCACATCTGGGTTGAAGGTGATCATCATGGACACAGTTTTGACAGTAATTCTTTTGGGCCG___GTTTCCCTAGGACTTCTGCATGCCCATGCCACACATATCCTGTGGCCCCCAGAGCGCTGGCAGAAATTGGAATCTGTTCTTCCTCCAGAGCGCTTACCAGTACAGAGAGAAGAGGAATGACTGCATGAATCTACCTGAGTTGCTGGCATTGGGAGGCCAGTTACTGGAAAGGAATGGAAAAAAGAAGCCTCCAAAAGGGAAAAACTTCTGACAATATGATGCTGTGCGAGAAATATTTACAGCACATTAAAACGATCTGTATTATTAAATAAATAATTTTCAAATGTTAAACAGTATTAAATGGCACCTGATTTTGTGTTAAATTTTAGTTCCCTGTTGTTTAATGCCCCCAAAATATGCAGACCTTTGGGAATATAAAAATATTGCACCCACATGTCTTAATGGGGCTGAATTTCAGATTATTTGTTACATATACTTATTATATTGATTGTTGGGTTTTGATTTTGGTGCTTGCTGCTGAAATAAATTGAAAATTAATATTCAATAAAAATGATGTATTTGTCACTTGCTGTTAAGGTAGAACAAGAAGGAACACATATTATACACATAATGATGGGAATTACATTGTGATTTGTACTATCTACAAAGGAGTAACTGCCAGTTAGGAAGAACAGTAAACAGTGATGTTAAAATAAAACAATGATTTGCTAAGGTCCTGTTTTGAGTATTTAATTCTCATTGAGTACATCCATTAATGAGGAATTTCTTATCTCTTCTGAAAATAAGGAATCAAAGTAATGGAGAACCCATTCTGTCGACACTTGCATACAGTCAAGCCTTTCTTATTGGCCCTTTGTAATCCAACATTTCTGAGTGATCTCATGCCTATTCACAATGATGGGTAAACCCCTTTATCCGCATTTAGTCATACTATGTGTTTAAAAGTTCTGAGTGAAATAGAAGAAAAAACAGTCCAGATCAGCCACGTTTGATTTTCTTCCCCTAATTATTTCTCAGTATTCACGTCTGTAATACTGAAATCACCAATTGCAAAGTTACAGTAGAATCATAGAGTCTGTAATTTGTATGGATAATGGAATAAATTCCCTGCATCTAA)$ MWIPTEHEKYGVVIASFRGTVPYGLSLEIGDTVQILEKCDGWYRGFALKNPNIKGIFPSSYVHLKNACVKNKGQFEMVIPTEDSVITEMTSTLRDWGTMWKQLYVRNEGDLFHRLWHIMNEILDLRRQVLVGHLTHDRMKDVKRHITARLDWGNEQLGLDLVPRKEYAMVDPEDISITELYRLMEHRHRKKDTPVQASSHHLFVQMKSLMCSNLGEELEVIFSLFDSKENRPISERFFLRLNRNGLPKAPDKPERHCSLFVDLGSSELRKDIYITVHIIRIGRMGAGEKKNACSVQYRRPFGCAVLSIADLLTGETKDDLILKVYMCNTESEWYQIHENIIKKLNARYNLTGSNA|affeswgepvi* 01CO014 ENSG00000158623.14 ENSG00000175701.10 -/- -/- chr7:130507274 chr2:110212338 CDS/splice-site 3'UTR translocation 0 2 0 60 336 medium out-of-frame . Adaptin_N_terminal_region(100%),Coatomer_gamma_subunit_appendage_platform_subdomain(100%),Coatomer_subunit_gamma-1_C-terminal_appendage_platform(100%)| . . ENSG00000158623.14 ENSG00000175701.10 ENST00000425248.5 ENST00000414416.2 upstream downstream . ^(CTTCCTGCAGCCTCTTCCGCTCGCCGGCTGCGGCGCCTGGGACGGTTGCGGTGGGTCTGGGCGCTGGGAAGTCGTCCAAGATGATTAAAAAATTCGACAAGAAGGACGAGGAGTCTG___GTAGTGGCTCCAATCCTTTCCAGCATCTGGAGAAGAGTGCTGTTTTACAGGAG___GCTCGTATATTCAATGAAACTCCAATCAATCCAAGAAGATGTTTGCATATTCTTACAAAGATTCTTTACTTACTGAACCAG___GGTGAACACTTTGGAACAACGGAAGCTACAGAAGCCTTCTTTGCAATGACGCGATTGTTTCAATCTAATGAT___CAAACATTGAGGAGAATGTGCTACCTTACCATCAAAGAAATGGCTACCATCTCTGAGGATGTGATAATTGTCACAAGCAG___TCTGACTAAAGACATGACTGGAAAAGAAGATGTATACCGAGGCCCGGCCATCAGAGCTCTCTGCAGGATCACCGAT___GGAACAATGTTGCAAGCCATTGAAAGATACATGAAGCAGGCCATTGTGGATAAAGTTTCCAGTGTATCCAGTTCAGCACTGGTATCTTCCCTG___CACATGATGAAGATAAGCTATGATGTGGTTAAGCGCTGGATCAATGAAGCCCAAGAAGCTGCATCAAGTGATAATATTATGGTCCAG___TACCATGCATTGGGAGTCCTGTATCACCTTAGAAAGAATGATCGACTTGCTGTTTCCAAGATGTTGAATAAGTTTACTAAATCTGGTCTCAAGTCACAGTTTGCTTACTGCATGCTGATCCGAATTGCCAGTCGCTTACTAAAAGAAACTGAGGATGG___CCATGAAAGTCCACTGTTTGATTTCATTGAGAGCTGCTTGCGAAATAAACATGAAATGGTTATTTATGAAGCTGCTTCAGCTATCATCCATCTTCCTAACTGCACTGCAAGAGAGTTGGCACCTGCTGTTTCAG___TTCTTCAACTTTTCTGTAGTTCTCCTAAGCCAGCCTTGAGATATGCAGCTGTGAGGACCTTGAACAAG___GTGGCAATGAAGCACCCCTCTGCTGTTACTGCCTGCAATCTGGACTTAGAAAACTTAATCACAGACTCAAACAGAAGCATTGCTACCTTAGCCATTACTACACTCCTCAAAACAGGAAGTGAGAGCAGTGTGGACCGGCTCATGAAGCAGATATCTTCTTTTGTGTCTGAAATCTCAGATGAGTTCAAG___GTGGTGGTTGTACAGGCAATTAGTGCTCTCTGTCAGAAATACCCTCGAAAGCACAGTGTCATGATGACTTTCCTCTCCAACATGCTCCGAGATGAT___GGAGGCTTTGAGTACAAGCGGGCCATTGTGGACTGTATAATCAGCATTGTGGAAGAGAACCCTGAGAGTAAAGAAGCAGGCCTAGCCCACCTTTGTGAATTCATTGAGGACTGTGAACACACTGTTCTGGCTACTAAGATTCTACACTTGTTGGGCAAAGAGGGCCCTAGAACGCCTGTCCCCTCCAAATATATCCGTTTTATTTTTAATAGGGTTGTCCTGGAGAATGAGGCTGTCAGAGCTG___CTGCTGTGAGTGCTTTGGCTAAATTTGGGGCTCAGAATGAGAGTCTTCTCCCAAGCATCCTTGTACTCTTACAGAG___GTGTATGATGGATACTGATGACGAGGTACGAGACAGAGCTACCTTCTATCTGAATGTGCTGCAGCAGAGGCAGATGGCACTAAATGCCACATATATCTTTAATG___GTTTGACGGTCTCTGTACCAGGGATGGAAAAAGCCTTACACCAGTACACGTTGGAGCCTTCAGAAAAACCGTTTGACATGAAATCAATTCCTCTTGCTATGGCTCCTGTCTTTGAACAGAAAGCAG___AAATCACACTTGTGGCTACTAAGCCAGAGAAGTTGGCTCCTTCCAGGCAAGACATTTTCCAAG___AACAATTGGCTGCCATTCCTGAGTTTCTGAATATAGGACCCTTGTTCAAGTCTTCTGAGCCTGTTCAACTTACAGAAGCAGAGACAGAATATTTTGTTCGATGTATCAAGCACATGTTTACCAATCACATCGTGTTCCAG___TTTGACTGCACCAACACTCTCAATGACCAGCTGCTGGAAAAAGTGACAGTGCAGATGGAGCCATCAGATTCCTATGAAGTGCTGTCTTGTATCCCAGCCCCCAGCCTTCCTTATAACCAACCAGGAATATGTTACACTCTTGTTCGTTTGCCTGATGATGACCCTACAGCAG___TTGCAGGCTCCTTTAGCTGCACCATGAAGTTTACAGTCCGGGACTGTGACCCTAACACTGGAGTTCCAGATGAGGATGGGTATGATGATGAGTATGTG___CTGGAAGATCTCGAAGTGACTGTGTCTGACCATATTCAGAAAGTACTGAAGCCTAACTTTGCTGCTGCTTGGGAAGAGGTGGGAGATACCTTTGAGAAAGAGGAAACCTTTGCCCTCA)GTTCTACCAAAACCCTTGAAG___AGGCTGTCAACAATATCATCACATTTCTGGGCATGCAGCCATGTGAGAGGTCCGATAAAGTACCTGAGAACAAGAATTCCCATTCGCTCTATCTGGCAG|CCCCATTCTGTCCCCCTCATGGCCACCTTGCCATGTCCGCGCCGGAGCCCCGGTCCGCCGGCGCCCAGAACCAGGCTTGCCACACAGTCCCCGCCTGCCATGGCCGGCTCTTCCTGGAGTGTTG___CTTGTTGAAGATGCATATAGACT(ACCGGAAAGAAATGACTTCTTCTTGCACTTTATGAATCAATTTTATTTTTAAAATAAAAAAATTAAACATC)$ MIKKFDKKDEESGSGSNPFQHLEKSAVLQEARIFNETPINPRRCLHILTKILYLLNQGEHFGTTEATEAFFAMTRLFQSNDQTLRRMCYLTIKEMATISEDVIIVTSSLTKDMTGKEDVYRGPAIRALCRITDGTMLQAIERYMKQAIVDKVSSVSSSALVSSLHMMKISYDVVKRWINEAQEAASSDNIMVQYHALGVLYHLRKNDRLAVSKMLNKFTKSGLKSQFAYCMLIRIASRLLKETEDGHESPLFDFIESCLRNKHEMVIYEAASAIIHLPNCTARELAPAVSVLQLFCSSPKPALRYAAVRTLNKVAMKHPSAVTACNLDLENLITDSNRSIATLAITTLLKTGSESSVDRLMKQISSFVSEISDEFKVVVVQAISALCQKYPRKHSVMMTFLSNMLRDDGGFEYKRAIVDCIISIVEENPESKEAGLAHLCEFIEDCEHTVLATKILHLLGKEGPRTPVPSKYIRFIFNRVVLENEAVRAAAVSALAKFGAQNESLLPSILVLLQRCMMDTDDEVRDRATFYLNVLQQRQMALNATYIFNGLTVSVPGMEKALHQYTLEPSEKPFDMKSIPLAMAPVFEQKAEITLVATKPEKLAPSRQDIFQEQLAAIPEFLNIGPLFKSSEPVQLTEAETEYFVRCIKHMFTNHIVFQFDCTNTLNDQLLEKVTVQMEPSDSYEVLSCIPAPSLPYNQPGICYTLVRLPDDDPTAVAGSFSCTMKFTVRDCDPNTGVPDEDGYDDEYVLEDLEVTVSDHIQKVLKPNFAAAWEEVGDTFEKEETFALSSTKTLEEAVNNIITFLGMQPCERSDKVPENKNSHSLYLA|apfcpphghlamsapeprsagaqnqachtvpachgrlfleccllkmhidyrkemtssctl* 01CO015 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 18 0 37 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(1),mismatches(1) AAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACG(CCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO015 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 17 10 0 187 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 duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCAT)CTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO015 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 11 8 0 31 48 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream . TTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCC(ACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 01CO015 ENSG00000006607.14 ENSG00000259530.1 +/+ +/+ chr2:241373290 chr15:61598512 CDS/splice-site exon translocation 5 8 0 44 19 high out-of-frame . FERM_N-terminal_domain_(100%)| . . ENSG00000006607.14 ENSG00000259530.1 ENST00000264042.8 ENST00000561182.1 downstream upstream duplicates(1) ^(AGTTGGGAGCAGGCGACGCCGACGCGAGTCTGGCGGCTGCTGCTTGCGACTGCGGAGGCCGGGCGAGGCCGGTGAGGACGCGGCGGGCGAGCGAGAGGCCGAGG___TGTTTTCTTCACTCATGGTGAAGAATGG)GGGAGATAGAAGGAACATACAGAGTCCTGCAGACTGCAGGGATGCGCTTGGGTGCCCAGACCCCTGTGGGAGTTAGCACCCTTGAGCCTGGGCAGACTCTCTTGCCCAGAATGCAAGAGAAGCACCTGCACCTCAGAGTAAAGCTGCTGGACAACACCATGGAAATATTTGACATTGAG|ACCTTGACCTTCCATTTTCCTCCCTTTCCTGGTTGTTCTGCCTGTGCCCTCCTGGCACATCAGCAGTCACTGCAGGCACATCGACAAAAG MGEIEGTYRVLQTAGMRLGAQTPVGVSTLEPGQTLLPRMQEKHLHLRVKLLDNTMEIFDIE|tltfhfppfpgcsacallahqqslqahrq 01CO015 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 11 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) CCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCT(GTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 01CO015 ENSG00000006607.14 ENSG00000259675.2 +/+ -/+ chr2:241373290 chr15:61660481 CDS/splice-site intron translocation/5'-5' 2 3 0 44 30 high out-of-frame . FERM_N-terminal_domain_(100%)| . . ENSG00000006607.14 ENSG00000259675.2 ENST00000264042.8 . downstream upstream . ^(AGTTGGGAGCAGGCGACGCCGACGCGAGTCTGGCGGCTGCTGCTTGCGACTGCGGAGGCCGGGCGAGGCCGGTGAGGACGCGGCGGGCGAGCGAGAGGCCGAGG___TGTTTTCTTCACTCATGGTGAAGAATGGGGGAGATAGAAGGAACATACAGAGTCCTGCAGACTGCAGGGATGCGCTTG)GGTGCCCAGACCCCTGTGGGAGTTAGCACCCTTGAGCCTGGGCAGACTCTCTTGCCCAGAATGCAAGAGAAGCACCTGCACCTCAGAGTAAAGCTGCTGGACAACACCATGGAAATATTTGACATTGAG|GCCTGCCTCTGTCACTGAATTCTACCAGATTTGAAGCTTCCACAGGTCAGGGCTGTGTATATGCCTGGCTCAGAACCAGCTACAGAACCTAGCCCAGAAGGAACTATACTAATGCTTATTGGAATGAACTCAGCTGATGGTTTAACAACAACAAC MGEIEGTYRVLQTAGMRLGAQTPVGVSTLEPGQTLLPRMQEKHLHLRVKLLDNTMEIFDIE|aclch* 01CO015 ENSG00000006607.14 ENSG00000259675.2(4469),ENSG00000259284.2(34176) +/+ ./+ chr2:241373290 chr15:61695617 CDS/splice-site intergenic translocation 1 2 0 44 10 high out-of-frame . FERM_N-terminal_domain_(100%)| . . ENSG00000006607.14 . ENST00000264042.8 . downstream upstream . ^(AGTTGGGAGCAGGCGACGCCGACGCGAGTCTGGCGGCTGCTGCTTGCGACTGCGGAGGCCGGGCGAGGCCGGTGAGGACGCGGCGGGCGAGCGAGAGGCCGAGG___T)GTTTTCTTCACTCATGGTGAAGAATGGGGGAGATAGAAGGAACATACAGAGTCCTGCAGACTGCAGGGATGCGCTTGGGTGCCCAGACCCCTGTGGGAGTTAGCACCCTTGAGCCTGGGCAGACTCTCTTGCCCAGAATGCAAGAGAAGCACCTGCACCTCAGAGTAAAGCTGCTGGACAACACCATGGAAATATTTGACATTGAG|GTGTGCCTTTATCAGCTGCGTGAAAACAGACTCATACAGACCCCTAATCCAATTTTACTGGCGTCCTTATAAAAAGAGAAAATTTGGATGTAGACATGCACACAGAGAGATTACCAG___CCTAACTGACAACATGCCCTCCCCTGAATCTGCTCTGAATGCTCCTGCCCGCGGC MGEIEGTYRVLQTAGMRLGAQTPVGVSTLEPGQTLLPRMQEKHLHLRVKLLDNTMEIFDIE|vclyqlrenrliqtpnpillasl* 01CO015 ENSG00000229404.6 ENSG00000263438.6(269276),ENSG00000264296.1(242867) +/+ ./- chr10:84280065 chr18:53899266 exon/splice-site intergenic translocation 1 1 0 8 5 high . . . . . ENSG00000229404.6 . ENST00000415469.5 . downstream downstream duplicates(1) ^(AAGATGGCCGAATA)GGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAG|TTCTAGGCTCAATCCCCATTGAACTTTATCCTCTTCATTGGACATGTTGTGATTTCAGTCTCCTTGGGAACTTTCATGTCTGGCTTCTCTTCCTGGACCCCTTTCCTACTCTTCTTCCTTTTTC . 01CO015 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 11 3 0 682 20 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCG)GTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTAC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 01CO015 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 3 0 24 7 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCC)CGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGAC...ATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGAAAATG___GTGTTGCTGCCATCACTACCTTTCCCTTCCTCCCCTTTCCTCATGGCAAGACGCATGGAAGAAGAGTGCTGTTAAGGCCTCTCCATTAATCAAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpe 01CO015 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 2 1 0 24 3 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCA)AGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAAT___CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnpfrrvtfsvvsqpqdphqgslqscyds 01CO015 ENSG00000272328.1 ENSG00000157625.15 +/+ -/+ chr7:8303796 chrX:30785084 exon/splice-site 3'UTR translocation/5'-5' 0 2 0 2 10 medium . . . . . ENSG00000272328.1 ENSG00000157625.15 ENST00000435967.1 . downstream upstream . ^(AGACTGCTGTGCTAGCAATCAGCGAGACTC)CGTGGGCGTAGGACCCTCCGAGCCAG|GACCTACAGACTCTGAACCTAAGACCTCTTCAGGACCTTGCAGTAACATTGGCTGCCTCCTCAGCT___GTGCTTTTTCCTGTTGTCCTCTTTAGTAGGAAGCAATGGGAAGAAGCACGGGGAGCCTTGGTTTTCCAGAGAGCGG . 01CO019 ENSG00000170027.7 ENSG00000198898.14 -/- +/+ chr7:76358722 chr7:116904177 CDS/splice-site CDS/splice-site inversion 52 126 1 638 1306 high in-frame . 14-3-3_protein(100%)|F-actin_capping_protein_alpha_subunit(100%) . . ENSG00000170027.7 ENSG00000198898.14 ENST00000307630.5 ENST00000361183.8 upstream upstream duplicates(8),mismatches(2) ^(GCAGCCGCCTCGCGCCCGGTCCCGCGGTCGCAGCTCCAGCCGCCTCCTCCGCGCAGC)CGCCGCCTCAGCTGCTCGCTCTGTGGGTCGGTCCTCTCCGGCACTTGGGCTCCAGTCGCGCCCTCCAAGCCCTTCAGGCCGCCCCAGTGTCCTCCTCCTTCTCCGGCCAGACCCAGCCCCGCGAAGATGGTGGACCGCGAGCAACTGGTGCAGAAAGCCCGGCTGGCCGAGCAGGCGGAGCGCTACGACGACATGGCCGCGGCCATGAAGAAC|GTATTGATAACAGAACATGGCGACTTGGGAAATGGAAAGTTTTTGGATCCAAAGAACAGAATCTGTTTTAAATTTGATCACTTAAGGAAGGAGGCAACTGATCCAAGACCCTGTGAAGTAGAAAATGCAGTTGAATCATGGAGAACTTCAGTAGAAACTGCTCTGAGAGCTTACGTAAAAGAACATTACCCGAATGGAGTCTGCACT___GTGTATGGCAAAAAAATAGATGGACAGCAAACCATTATTGCATGCATAGAAAGCCATCAGTTCCAAGCAAAAAATTTTTG___GAATGGTCGTTGGAGGTCAGAATGGAAG(TTTACAATCACTCCTTCAACCACTCAAGTGGTTGGCATCTTGAAAATTCAG___GTTCATTATTATGAAGATGGTAATGTTCAGCTAGTGAGTCATAAAGATATACAAGATTCCCTAACAGTGTCT___AATGAAGTGCAAACAGCAAAAGAATTTATAAAGATTGTAGAAGCTGCAGAAAATGAATACCAG___ACTGCCATCAGTGAGAATTATCAGACAATGTCGGACACTACTTTCAAAGCCTTACGTCGACAGTTGCCAGTTACACGCACTAAGATTGATTGGAACAAGATCCTTAGCTACAAGATTGGCAAAGAGATGCAGAATGCATAAGATGAACATTGCATGACCGGATCATTTTAGTGTCTTTGCGTTAAAAAATCATTGCAAAAGTATTCTGAACTGTCAAGCTGCCCAGTCAGATGGGCTGTTGCCATTTAAAATCACTGTAATTAATTAGTTTGATTAGAGCACAAAGCTTAGCTAATCAACCATTATTTTTCATTTTGTTTGTTCTAAGAGGATTGAAAATCAGTTTAGTTTAAATGTCTTTCTGTTAGGCCTTTCTTTCTTACAATGAAGAGATGATTCTTCTAGTTTATGGTTAAAAGTTTTTGAAGTGTCTCAAAAATATTTTACTAACTGTAACCCTAAAATTGATGTCTTTTGGTTTATGAAATCAGTAATTTTTGATATTTCCCCAGTTCTTTTTAATGGGGTCAATAATGGACATTCTAGTTTAAGGTGGTTGATGGATTTAGCCATATATGCTGCTAAAGAAATTGTCTACCTTTTCTTCCTCACCTGTTCCATTTATGTAAAGTTGAGATTAGAGGGAAAGCATTTTCTATATCAATTGTGTTTAAACCTTTCAAGAAGGTTATTTAGCTAGCTTAGTGTTGAACTAAATTTTTTTTAAACAAGGCAAGGTCTAATGCTGTTTTGAGATTCTGAAATTAATGAAAATACTTATTTCAGAAATGCATTTAATGCTTTTTTTCTTGTGACAGTTACGCAAATCAGCTTGAATTCCATATGTCCCTGAGTTATTTTTATCATAAAGCCACAAATGTATTATAACAAGGCAAATTGTAATATATATAATCCTGAACTCATGACCATGTCTCGGTTTATTTTTTTTTTCTTGGATTGAAAAGTACTGAAATTCAATGTGACATTAAAATGCAAATTTTCCTATTTATTTGAGTAGAAAATCACTTACCAGTGAGCATATATATTTTAAAATACTTTCTTTGGATATTGTAATTCTTAACTGGTTGTAAATTAGAAAAGCTGGGATTACATATGGTGTGCGGTTACAGTCTAAATTTTTTCATCCTCCTATGCATCATAAGCATGTTTGTAATATTTTCAAAAATAGTTCTACTGATGCTACAGGAATTTCAAGCCTGTGGTGAATGTTAGTATTTACCATAGGGAGTGAAGTGGAGTTATGGTTTCATTCAATAGAGTATTGCTGATTATACTTGAGTGGAATCCTTTCCTCACGTACTCCCACAGACGTCTGGGCCTGGAAATTTTTTTTTTATTTTATTTTATTGTTTTTTTTTTTAGAAAAACACCACTTTTATTATGTACAATAAAATATTTCATTAGCTTGAATTGTATAGATTTTTAAAAATTCAATGAAAGCATGTTGTTTAATTTCTTTTTAAAATCACTGTTGGGCTTTGAAAGCATTGAGAATATAATATGAAATTATGACATTTTGTCTAAATCATCTTTTCTTTAGTTTTAAAATACAAGTTTTGGCACATTGGGATTCCTAAAGAAAATGAATTGGTAACATTAATTATCTGTTCCTTTTTAAAATATATATATTTGAAAGTTTGATGATGGTGAACTAAATACTAGATCTAATTGACAAGCTTAGTTGTATCAGTTAGGCCATCATGAGTTTCTATCCCATGAAAGTCATCAATTTCCTATCTCTGTTCTAGTCTGGAATGCATTACTGAAAATGTATGCAACTGTTTTTAAGGTGATTTGCTTGTGAGACGGAAGATTTATCAAAAATAATTTAGAACAGGCTGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGGGGTCAGGAGATTGAGACCACCCTGACTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGACAGGCGCTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTCGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATAATAATAATAATAATAATATAATTTAGAACAGTCTGAAATAATGATGGCACAGAATAGTCTTTTATAGTATAAGAATGGCATTTATTAGGCAGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCTGAAACCCCGTCTCTACTAAAAACAAAAAAAAATTAGCCGGGGATGGTGATGCGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGACAGGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGAGCCACTGTACTCCAGCCTGGGTGACACAGGGAGCCTCTGTCTCAAAATAATAATAATAATAAAAGAATGGCATTTATTAAAGTGAAAGAAGAATGGAAACCCAGAGTATCCTATAGCTCAGGGATGTAATTTTAGTAGGAGACATTATGGCTGCTTTGCTGAGTAGGCTGAAGTGTGGTGGCAAAGGCATAATCAGGGAGAACAGCTAGGAGACTACTGCAGTAATCTAGTTGAGAGAGCATGCTGGCTTGGACTGAGGTGGTTGCTGTAGAGGTGGTATAAAGCAGTGAGGTCTAGGTATATCCTAAAGGTAAAATCAGCAAGACCTGGGGAGAGTTTGGTCATGGAGTGTGAGATAAAGAGAACCATGTCTGGGGCTGGAGAAATTGAGGAAGATTCTTGTAGGAGCAAGTTGGTTTGGAGAAGAAGGCTGGTCAGGAGCTCAGTTTTCTATTCAAAGGAGAAATATCTCATGTAGCAGTTAGATACAGGAGACAGGAACTAGAGGAAAGCTCTGGGCTAGAAGAATGGGAAAGTGCATGAACCTGGAAACAATTTTATAGGCAGACAGGATGAAGGACCTCAAGGTTAGTGATAATGAATTTAAAGTAAATGAGACCAATGATGAGCATGGCTGTATGTTTTTCTTCAACCGTGTAAAGCTGTTTGGGTGCAGGCATAGAGTAGATGAAATAAATTTCACCAGGGCTGTGGTTTTGCCCAGAGTGAATGACCACATGAAGAGGGGCAGGGTATGATGATGGTCTGTGGAATTTCAGCTGGGTAAGCAGGGAAGTGAGGGCTTGAGACGGGGGGAGGGATAGTGAAAATGTACAACCAGTGGATTATAGGTGTGTTAAAGTAGGGGAACTAGAAAGAATGACCTGGAAATGTAAGAAGTGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGTGGATCATGAGGTCCAGAGATCAAGACCATCCTGGCCAATATGGTGCAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGATGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGCGACAGAGCGAGACTCTGTCCCAAAAAAAAAAAAAAGTGGTGGGCTGGCCACGATGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCACGGCAAGTGGATCATTTAAGGTCAGGAGTTCAAGACCAGTCTGGCTAATATGATGAAACCCCTTCTGTATTAAAAATACAAATATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTTTGAACCCAGGAAGTGACAGTTACAACGAGCGGAGACTGTGCCACTTCACTGCAGCCTGGGTGACAGGGTGAGAGTCTGTCTCAAAAAAAGAAAAAGGAAATGTAAGAAGTGGTGATTGGAGAATGGTGTGCTTAATTAAAATTGAGGTTTTGAGGAGTTACTAGTAATGACAAATATGACCAACGGAGTGACTGGCTGAGGGGAGAGAGGAGAGGACTTAAGCAACTGTGCCACTCAGCATTGGAAAGGTCACCTCTGTGACATTAAAATCAAGAATTCTGATAGAAGTAAGAGTTCTGGCATGAGTGGTGCTTTTCCAGAGTACACTTGGATATATGATTACATTTTAATAAGTTATATAAATATGCAGATATTCATGCGGCTTTTCCTCATTTGGGATTTTGGAAACTAAAATAGTAGTAAGAGCATTAAAAAAAAGATGTCCTGGAA)$ MVDREQLVQKARLAEQAERYDDMAAAMKN|VLITEHGDLGNGKFLDPKNRICFKFDHLRKEATDPRPCEVENAVESWRTSVETALRAYVKEHYPNGVCTVYGKKIDGQQTIIACIESHQFQAKNFWNGRWRSEWKFTITPSTTQVVGILKIQVHYYEDGNVQLVSHKDIQDSLTVSNEVQTAKEFIKIVEAAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILSYKIGKEMQNA* 01CO019 ENSG00000198898.14 ENSG00000170027.7 +/+ -/- chr7:116898835 chr7:76328012 CDS/splice-site 3'UTR inversion 26 20 0 1051 605 high out-of-frame . F-actin_capping_protein_alpha_subunit(100%)| . . ENSG00000198898.14 ENSG00000170027.7 ENST00000361183.8 ENST00000307630.5 downstream downstream duplicates(3) ^(GCCG)CGGTTTGTCGCCAGAAGGAAGATGGCGGATCTGGAGGAGCAGTTGTCTGATGAAGAGAAG___GTGCGTATAGCAGCAAAATTCATCATTCATGCCCCTCCTGGAGAATTTAATGAGGTTTTtAATG___ATGTTCGGTTACTGCTTAATAATGACAATCTTCTCAGGGAAGGAGCAGCCCA___TGCATTTGCACAGTATAACTTGGACCAGTTTACTCCAGTAAAAATTGAAGGTTATGAAGATCAG|GCAAGAAGAGGTGTGAGTAATTGAGGAAAAACTGACAGATGCTTTTGCTAATACCAAAATTGAGCTTACAATTAGGAACTGAGTATGTGTAACAGGATACAGGTGACAGTGAAGATAGAAGAACCACGATGACCACAGACTCAATGTGCTCTGTAACATCGCACAGTTTACCCAGCATGACTTTCCTTAGGAGGCCCCCTCCTCACGCTAGAGTAAAAGTCCCAGTTAAGTGAAGCCTACCAGAAGAACTAGTAGAAGAAGCTTTGCCGCTTTTGTGCCTCTCACAGGCGCCTAAAGTCATTGCCATG(GGAGGAAGACGATTTGGGGGGGGAGGGGGGGGGGGGCAGGGTAGGTGGGGCTTTCCCTAATTTATCTTCATGTCCAGTGAGCAGTGTTGCGTTTTTCCTTGTAGCATTTGGAAATGATTTACTGGAATTACAAAACCTATTTTTCCTTTAAATTTCAGCTTTGGCTCTGGCTGCTTTTTAGAATAATGCAAGATAAAAATCACACCTGAGGGCTGAAAACGGAGAGGGAATGGGAGACTTGATATTTAAGCAGCTTGAATGGTTTTTCTTTTCTTTATTTTTAAAGAAATGCACTTGCCTATGATACTGTCTCTCCAGTGAAATGATTACTCCTCCATTACTCTATTGATACAATATTGTGCATGCTAGTGTTGTATTTCTATACAGTAGCTTGAAATTGATTAACTTATACTGTAGGTGTTATGTATTCCTATGACAAAAAAAATTAAGTCTTCAAATTTTTTAAAGGTTTTTTTTTTTTAATTTAATTTTTCCTTTTGGGGGTAAAGTTTGCTCTACCAAATAGTGATTGTAACAAATTGATCTGTTTTGGATGTTGCTATAGTGACATGCAGTTATATATTTTGTTTTTAAAAGGGGGGGAGCAAAAGAAACACCAGTGTTAGCTTAATCTTAATGTCTGGTGTTTGTCATGGTGAAATTATAACTATTACAGTGTTGGAGAACAACAAATATGTTCTCTGAATGAGCCTTTGTGCTTTTTGTCATGTTATGCAGTGAACTATTTTTAAGGTCTAATCAGTGATTATTTTTCCAGCTCCGTGTTTCTCTAAGGAATTATTTCACACACGGACCATCTTTAGCAGTTTCCTCAGTGATGGAATATCATGAATGTGAGTCATTATGTAGCTGTCGTACATTGAGCAAATAAACTTACAGATCTGA)$ MADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNDVRLLLNNDNLLREGAAHAFAQYNLDQFTPVKIEGYEDQ|arrgvsn* 01CO019 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 60 46 2 121 132 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(5),mismappers(2),mismatches(3) GGAAGACGTCAGCTGAGAGGCTCATTAGGAGGAT?CCTGGGGCTGG___...ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO019 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 16 0 214 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATC...___AACAGACAAAAGGACGTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO019 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 17 0 45 44 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) AAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCC(CCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01CO019 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 9 10 0 1295 69 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___)ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGC(TTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 01CO019 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 20 152 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) GCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCC(TGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01CO019 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 5 9 0 18 29 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream . CCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGC(AGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 01CO019 ENSG00000087269.16 ENSG00000125388.20 -/- +/- chr4:2963125 chr4:2996805 CDS/splice-site intron duplication/5'-5' 6 8 0 105 12 high out-of-frame . . . . ENSG00000087269.16 ENSG00000125388.20 ENST00000416614.7 . upstream downstream . ^(GGTTCCGCGGCCCGGCACGTGTCTTAGGGTAGCGCGCGCCTGTCTCTCTTCGGGTCTCGGGCCCTTGGGCGCAGCGGGGCGCGCGCCATGGCGAAGGCGAAGAAGGTCGGGGCGCGA)AGGAAGGCCTCCGGGGCGCCGGCGGGAGCGCGAGGGGGCCCGGCGAAGGCCAACTCCAATCCGTTCGAGGTGAAAGTTAACAGGCAGAAGTTCCAGATCCTGGGCCGGAAGACGCGCCACGACGTGGGACTGCCCGGGGTGTCTCGCGCACGGGCCCTCAGGAAG|TAAAGCACAAGAGCAGGGCCATCAGGTGGGAAGAGGAAGAATGTGGCAGTTTCCCCAGTTGATG___AAGAAAACACACCTTATCATTGAAGAAT...___ACAGGTCTCACTATGTTGCCCAGGCTAGACTCAACCTCTTGGGCTCAAGGGATCCTCCTGCCTCAG MAKAKKVGARRKASGAPAGARGGPAKANSNPFEVKVNRQKFQILGRKTRHDVGLPGVSRARALRK|* 01CO019 ENSG00000115970.18 ENSG00000227007.1(22867),ENSG00000226488.2(97362) -/- ./- chr2:43541159 chr2:6398289 CDS/splice-site intergenic deletion 11 1 0 58 3 high out-of-frame . Putative_death-receptor_fusion_protein_(DUF2428)(100%)| . . ENSG00000115970.18 . ENST00000405975.6 . upstream downstream mismappers(1) ^(GACCCGGTAGTCGACCGTGGACCGCGCTGCGAGCCTCGGAGACGCCGTAGAAGGAGACCTGCTTCCGGGACTGGACCAGGCGCCTGCGACTCTTCTCAGACGCCGACGTGCACGAG___TGACTACTATTAATTCTATTTAAAATGGGTGTAAAGAAGAAGAAAGAAATGCAAGTTGCTGCGCTGACCATTTGCCATCAGGACCTTGAAACTTTGAAAT___CTTTTGCTGATGTGGAAGGGAAAAATCTAGCTTCTTTGCTGTTACATTGTGTGCAACTCACGGATGGAGTGTCACAAATCCATTATATTAAACAG___ATTGTGCCTCTGCTGGAGAAAGCAGATAAAAATGGCATGTGTGATCCCACTATTCAAAGTTGTTTGGATATCTTAGCAGGCATTTATCTTTCTTTGAGTCTAAAGAATCCCTTGAAGAAAGTATTGGCAAG___CTCACTAAATAGCCTGCCTGATTTTTTTCTACCTGAGGCTATGCACCGTTTTACTTCTCGTCTTCAGGAAGAATTGAATACTACTGACTTATACTCTTACAGGAAAGTTACTGACAATATTTCTTCCTGTATGGAGAACTTTAACTTGG___GTAGAGCAAGTGTTAATAATCTGCTTAAAAATG___TGCTTCATTTTCTGCAGAAGAGTTTAATTGAAATCCTGGAAGAAAATAG___AAAATGTGCTGGAAATCATATTATTCAAACACAGTTGATGAATGACTTACTGGTAGGCATTAGAGTTTCAATGATGTTAGTACAGAAAGTACAAGATTTCCAGGGAAATCTTTGGAAGACTTCCGATTCTCCCATATGGCAAAATATGTGTGGATTGCTGAGTATTTTTACCAAGGTTTTAAGCGATG___ATGATCTGTTACAGACTGTACAGAGCACATCTGGATTAGCTATTATTCTTTTTATTAAGACTATGTTTCACCCGTCTGAAAAGATTCCTCATTTG___ATTAGCAGTGTGCTGCTTCGTTCAGTGGACTGCACCAGTGTCCCCGAGTGGTTTATGAGCAGCTGCAGGAGCCTCTGTTGTGGTGACATCTCTCAGTCAGCTGTCTTATTCCTCTGTCAGGGGACACTTGCCATGTTGGACTGGCAGAACGGAAGCATGGGTCGGAGTGGGGAGGCCCTGCTCTTGGATACTGCACATGTTTTGTTCACCTTGAGTTCACA___GATTAAAGAGCCAACGCTGGAAATGTTTCTGTCTAGAATCTTAGCATCCTGGACTAATTCAGCCATACAAGTCCTTGAATCAAGTTCCCCGAGCCTAACGGACAGCCTGAATGGGAATTCAAGTATAGTTGGGAGACTTTTGGAATATGTCTATACCCATTGGGAACATCCATTGGATGCTCTGAGACACCAAACCAAAATCATGTTCAAAAACCTTCTCCAAATGCACCGGCTCACTGTGGAAGGTGCAGATTTCGTCCCTGATCCTTTCTTTGTGGAATTGACTGAGAGTCTTTTACGATTGGAATGGCATATTAAAGGAAAGTACACGTGCCTTGGTTGTTTGGTAGAGTGCATAGGAGTTGAACATATTTTGGCTATAGATAAAACTATTCCATCTCAAATCTTAGAGGTGATGGGAGACCAGTCATTGGTACCTTATGCAAGTGACCTCTTGGAAACCATGTTTAGAAATCATAAGAGTCATTTGAAATCCCAGACTGCTGAGAGTTCTTGGATTGACCAGTGGCATGAGACTTGGGTTTCTCCTCTCCTTTTTATATTGTGTGAAGGAAACTTGGATCAAAAATCTTACGTGATTGATTATTACTTGCCAAAATTATTAAGTTACAGCCCTGAAAGCTTACAGTACATGGTAAAGATTCTTCAGACTTCTATTGATGCTAAAACTG___GACAAGAGCAATCTTTCCCATCCTTAGGGTCTTGTAATAGCAGGGGGGCTCTGGGAGCTTTGATGGCATGTCTGCGAATAGCTAGAGCTCATGGACATCTTCAGTCTGCAACTGATACCTGGGAGAACCTCGTGTCTGATGCAAGAATAAAGCAAGGCTTAATTCATCAGCATTGCCAA___GTAAGGATAGATACATTAGGCTTGCTTTGTGAAAGTAATCGGAGCACAGAAATTGTTTCCATGGAAGAAATGCAGTGGATTCAGTTCTTTATTACATACAATCTTAACAGCCAGTCTCCAGGAGTGCGGCAACAGATCTGTTCTCTTCTTAAAAAG___TTGTTTTGTAGGATACAGGAAAGTTCTCAGGTACTTTATAAATTGGAGCAGAGTAAATCCAAACGTGAACCAGAGAATGAGTTAACCAAACAGCACCCTTCTGTTTCTTTACAGCAGTATAAG___AATTTCATGTCATCCATTTGTAACAGTCTTTTTGAAGCATTGTTTCCTGGATCTTCCTACTCGACTAGATTTTCAGCTTTAACCATTTTAGGTTCAATAGCTGAAGTTTTTCATGTCCCAGAAG___GCAGAATTTATACAGTATATCAGCTGAGTCATGATATTGATGTTGGTCGTTTCCAAACACTAATGGAATGTTTTACCAGCACTTTTGAAGACGTGAAAATTTTAGCATTTGATCTTCTGATGAAGTTATCAAAAACAGCTGTACATTTTCAG___GATTCGGGGAAACTGCAAGGCTTATTTCAGGCAGCATTGGAGCTCAGCACAAGCACCAAACCATACGACTGTGTGACAGCTTCCTACCTGCTGAACTTCTTAATCTGGCAGGATGCTCTACCGTCATCCTTGTCTGCCTACTTAACTCAGCAAGTTGCATGTGATAATGGAGATAGGCCTGCTGCTGTGGTGGAAAGGAACACATTAATGG___TTATCAAATGCTTGATGGAAAATCTTGAGGAAGAAGTATCTCAGGCTGAAAATTCTCTGCTTCAGGCAGCAGCAGCATTTCCAATGTATGGGCGAGTCCACTGTATAACAGGAGCTTTGCAGAAGTTATCTCTAAA___CAGCCTGCAGTTGGTGAGCGAGTGGAGACCTGTGGTAGAGAAGCTCCTTTTGATGTCCTACAGGCTTTCCACTGTGGTGTCTCCAGTCATTCAGAGCTCATCCCCTGAAGGCCTCATCCCAATGGACACTGATTCAG___AGTCAGCAAGCCGCTTACAGATGATTCTGAATGAGATTCAGCCTCGAGATACTAATGATTATTTTAACCAAGCCAAAATATTGAAAGAACATGAT)AGCTTTGATATGAAGGACTTGAATGCTAGTGTGGTGAATATTGATACTTCTACAGAAATCAAAG___GTAAAGAAGTAAAAACATGTGATGTAACTGCGCAGATGGTGCTGGTATGTTGTTGGAGAAGTATGAAGGAAGTTGCTTTACTTTTAGGCATGTTGTGCCAGCTTCTGCCCATGCAGCCTGTGCCAGAATCTTCTGATGGATTATTGACGGTGGAGCAG|AGTATGTTTAGTGCTGGAAGGCCTGAGCAGACTGGCCCAGGACTCTGCATTTCCACAAGGAGAAGGGGCGAGGTACAGATGTGGATATAGAATCAGATCAGAATTTTCTTGGCAGTTTCAGGTAACTTATCTCAAAG MGVKKKKEMQVAALTICHQDLETLKSFADVEGKNLASLLLHCVQLTDGVSQIHYIKQIVPLLEKADKNGMCDPTIQSCLDILAGIYLSLSLKNPLKKVLASSLNSLPDFFLPEAMHRFTSRLQEELNTTDLYSYRKVTDNISSCMENFNLGRASVNNLLKNVLHFLQKSLIEILEENRKCAGNHIIQTQLMNDLLVGIRVSMMLVQKVQDFQGNLWKTSDSPIWQNMCGLLSIFTKVLSDDDLLQTVQSTSGLAIILFIKTMFHPSEKIPHLISSVLLRSVDCTSVPEWFMSSCRSLCCGDISQSAVLFLCQGTLAMLDWQNGSMGRSGEALLLDTAHVLFTLSSQIKEPTLEMFLSRILASWTNSAIQVLESSSPSLTDSLNGNSSIVGRLLEYVYTHWEHPLDALRHQTKIMFKNLLQMHRLTVEGADFVPDPFFVELTESLLRLEWHIKGKYTCLGCLVECIGVEHILAIDKTIPSQILEVMGDQSLVPYASDLLETMFRNHKSHLKSQTAESSWIDQWHETWVSPLLFILCEGNLDQKSYVIDYYLPKLLSYSPESLQYMVKILQTSIDAKTGQEQSFPSLGSCNSRGALGALMACLRIARAHGHLQSATDTWENLVSDARIKQGLIHQHCQVRIDTLGLLCESNRSTEIVSMEEMQWIQFFITYNLNSQSPGVRQQICSLLKKLFCRIQESSQVLYKLEQSKSKREPENELTKQHPSVSLQQYKNFMSSICNSLFEALFPGSSYSTRFSALTILGSIAEVFHVPEGRIYTVYQLSHDIDVGRFQTLMECFTSTFEDVKILAFDLLMKLSKTAVHFQDSGKLQGLFQAALELSTSTKPYDCVTASYLLNFLIWQDALPSSLSAYLTQQVACDNGDRPAAVVERNTLMVIKCLMENLEEEVSQAENSLLQAAAAFPMYGRVHCITGALQKLSLNSLQLVSEWRPVVEKLLLMSYRLSTVVSPVIQSSSPEGLIPMDTDSESASRLQMILNEIQPRDTNDYFNQAKILKEHDSFDMKDLNASVVNIDTSTEIKGKEVKTCDVTAQMVLVCCWRSMKEVALLLGMLCQLLPMQPVPESSDGLLTVEQ|smfsagrpeqtgpglcistrrrgevqmwi* 01CO019 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 7 0 35 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGA)TGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01CO019 ENSG00000285677.2 ENSG00000116584.20 +/- -/- chr1:156002441 chr1:155989351 exon CDS/splice-site deletion/read-through/3'-3' 6 4 0 25 32 high . . |RhoGEF_domain(100%) . . ENSG00000285677.2 ENSG00000116584.20 . ENST00000673475.1 upstream downstream mismatches(1) GGCAGCTGATCTGGACTGGAATGAGTCCCCCCTTTCTCTTATGCAAACTTCTGGACCATGAACAGCTCCCTTAAAAGGACCAAGAGAGAGGGGACCCCCACCAAAGTGCTGGACTGGGTTCTTAAAGGGGCCACCTGAAGCAGGACTTTTTCCCACACTGAAGTCACCAACTGACAGCAGAAACAGGTCCCCCATCTTTGGGATATCTCCCAGTTCTG|GAGGAGACTGCAAGCATCGGGATGCCCAGGCCCCAAGGAGGCCCTCTTCCTGCAGATCCGAGAAGGACTGGACACCTTTCTGGGACTGCAGCACCAGGGTGGCTACGCCTCCCGGCTG___GATCAGGATTCCTGTCATCCATCTGCTGGCCCTTTGGACCACTCGGCCACTGGCATGCTTTCCAAGTCTGTACCCGTGAGTGGCATCAACTGTCTCTTG(GACCGTTCGGATACAGATG___GGAATGTATCCCAGTCCTCTGCCATTGACCTCAGGAAACG___CTGCAGCCAGCTGGAAGGACATTCAGGTACCCGGGTAGGCTCCTCCCTGCGACAGACCTTCAGCTTCCTCTCGGGCATGACCGGAAAGGCCAAG___ACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGCTATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAA___CCTGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAG___CAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTGCAGTCCGTTTCTCTTCGAAGTAAGA___CAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGCCGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGG___ACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACAGACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAG___CAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAGGACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATG___AGCTAATCCAGACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTCCCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATCCATCGCTTGGGTGATCTGCTCATCAGCCAG___TTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAGCTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGG___AAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTGCTGGTGACTCAGCGCATCACCAAGTACCCGTTACTCATCAGCCGCATCCTGCAGCATTCCCACG___GGATCGAGGAGGAGCGCCAGGACCTGACCACAGCACTGGGGCTAGTGAAGGAGCTGCTGTCCAATGTGGACGAGGGTATTTATCAGCTGGAGAAAGGGGCCCGTCTGCAGGAGATCTACAACCGCATGGACCCTCGGGCCCAAACCCCAGTGCCTGGCAAGGGCCCCTTTGGCCGAGAGGAACTTCTGAGGCGCAAACTCATCCACGATGGCTGCCTGCTCTGGAAGACAGCGACGGGGCGCTTCAAAG___ATGTGCTAGTGCTGCTGATGACAGATGTACTGGTGTTTCTCCAGGAAAAGGACCAGAAGTACATCTTTCCTACCCTG___GACAAGCCTTCAGTGGTATCGCTGCAGAATCTAATCGTACGAGACATTGCCAACCAGGAGAAAGGGATGTTTCTGATCAGCGCAGCCCCACCTGAGATGTACGAGGTGCACACAGCATCCCGGGATGACCGGAGCACCTGGATCCGGGTCATTCAGCAGAGCGTGCGCAC___ATGCCCATCCAGGGAGGACTTCCCCCTGATTGAGACAGAGGATGAGGCTTACCTGCGGCGAATTAAGA___TGGAGTTGCAGCAGAAGGACCGGGCACTGGTGGAGCTGCTGCGAGAGAAGGTCGGGCTGTTTGCTGAGATGACCCATTTCCAGGCCGAAGAGGATGGTGGCAGTGGGATGGCCCTGCCCACCCTGCCCAGGGGCCTTTTCCGCTCTGAGTCCCTTGAGTCCCCTCGTGGCGAGCGGCTGCTGCAGGATGCCATCCGTGAGG___TGGAGGGTCTGAAAGACCTGCTGGTGGGGCCAGGAGTGGAACTGCTCTTGACACCCCGAGAGCCAGCCCTGCCCTTGGAACCAGACAGCGGTGGTAACACGAGTCCTGGGGTCACTGCCA___ATGGTGAGGCCAGAACCTTCAATGGCTCCATTGAACTCTGCAGAGCTGACTCAGACTCTAGCCAGAGG___GATCGAAATGGAAATCAGCTGAGATCACCGCAAGAG___GAGGCGTTACAGCGATTGGTCAATCTCTATGGACTTCTACATGGCCTACAG___GCAGCTGTGGCCCAGCAGGACACTCTGATGGAAGCCCGGTTCCCTGAGGGCCCTGAGCGGCGGGAGAAGCTGTGCCGAGCCAACTCTCGGGATGGGGAGGCTGGCAGGGCTGGGGCTGCCCCTGTGGCCCCTGAAAAGCAGGCCACGGAACTGGCATTACTGCAGCGGCAACATGCGCTGCTGCAGGAGGAGCTACGGCGCTGCCGGCGGCTAGGTGAAGAACGGGCAACCGAAGCTGGCAGCCTGGAGGCCCGGCTCCGGGAGAGTGAGCAGGCCCGGGCACTGCTGGAGCGTGAGGCCGAAGAGGCTCGAAGGCAGCTGGCCGCCCTGGGCCAGACCGAGCCACTCCCAGCTGAGGCCCCCTGGGCCCGCAGACCTGTGGATCCTCGGCGGCGCAGCCTCCCCGCAGGCGATGCCCTGTACTTGAGTTTCAACCCCCCACAG___CCCAGCCGAGGCACTGACCGCCTGGATCTACCTGTCACTACTCGCTCTGTCCATCGAAACTTTGAGGACCGAGAGAGGCAGGAACTGGGGAGCCCCGAAGAGCGGCTGCAAGACAGCAGTGACCCTGACACTGGCAGCGAGGAGGAAGGTAGCAGCCGTCTGTCTCCGCCCCACAGTCCACGAG___ACTTTACCAGAATGCAGGACATCCCGGAGGAGACGGAGAGCCGCGACGGGGAGGCTGTAGCCTCCGAGAGCTAAGGGGGCCCCTCCCCCCTGCCCCGTGCCCCACTGAAGAACATTACTGAGGGGGCTAACCTTGGGGACTCCAATTTGCCAATGATGAGGGAACATTTGAAAGAACTGCAAATTGTCCTTGCCAGCTCTTGGGATCCTTGGATACCTGGGGCCATTTAAGAAGCTAGGGGAATTAGGCCACAACACCCCCTGGGACATCCGAAAGCTACACCACAGATGCCAGTGGTTCATGCCTTCTTCCCGCAACTTTAGGAAAATTTATTTATTTATTGTTTATTAGTTATGGGGGGAGAGGGGAGATTTAAAGGACCAGGGACATGGGAACCAAGCCATAGGGATCAGAGGGCCTTGTCCTTGAACACTACTGGGGTATATTCAGGCTCATCCACGCAGCTGCTGGGTTCTTGCCCTAACGGCCCTCCCCTGCAACATCCGTCTTGGAGGAGAGGCTGCAGCCACAGCACCCTACTGCCCTTTAAATAAAGGAGGGCTGTGGGCAGGGCCATGTCCCTTTCTCCTCTCCCCTCAACCTCTTACTGCTGTTCTCCCTTTCTCCGTCCTTCATGGAAGCCCTGGGAGATAACCTGGCTTCCTGGAGTTGATGGAATAAAGGTTGGGGTGGCCATAATGGTTTGTTGGGGGTGAGGGAAAAAACCCACAGGGACCAGAATGTTTTGTTGTTCTTTTGTTTTCTTTTTTGTACCAAAGTCAACTGCACGTGTTTTATATTTTTAAGAGATCGTAGGCAATTAGAGATCGAAGCCTCCTATCTCCACATCTCTGAAGAAGTTGAGGGGTGGGGGAGAGAATGACTTCTGCCTTCATCTGCAGTAACGGGGGGACCTATACTGACCTCTTCCCCAGCCATTTAGAAACAAGTTCTAGGGTGGGTTGGAAAATCTCCAAGAGCCCTGACCTCATCTTCCACCTCAGCAACCATGACCTGAAACCTCAGCGTGAATTTGGGGGATTTTTCAGTGGAACCCTTGCCCCCAAATGTCGACCAGCCCCCAAATGTCGAAGAATTTTCTTCTTGCCAATTTTGTTGTTTAAAAAAAAAATTCAGGGAAAATTAAAAACCTGGAACTCC)$ . 01CO019 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 1 3 1 238 69 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000560197.5 upstream downstream duplicates(1) ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCA)TGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCC(TGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 01CO019 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 3 0 396 69 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream mismappers(2) CTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 01CO019 ENSG00000157570.12 ENSG00000250704.1(60195),ENSG00000286711.1(28237) +/+ ./- chr11:44764512 chr4:150018767 5'UTR/splice-site intergenic translocation 2 1 0 38 7 high . . . . . ENSG00000157570.12 . ENST00000520358.7 . downstream downstream . ^(AGCTGCCGCCGGCGTCGCGGGGCTCCAGGCTGCGGGGCGGACGTAGCGCCGAGCGATCCACCGCGGAGCCGCGCGAGGCCGCCCGAGCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGTCCCGGCCCCGAGCCCCGAGCGAGCGCCGCCGCCTCGCGCTGCGGGTCCCCGGACGCGCCGCCACCGCCGGGAAGGCAGCCGGCGCCGGGCAAGTTGCGAGCGC)GCCaCTCCGACCAGGAAAGTTTCCCCCCGGCCGCCGGCGGGATTTGGCGCGGGGTCCGGCAGCCGCCGCTGGAAG___AGTGTATCCAGAAGCTACTGTCAGGAGGACACTGTAAGAGAACCTTGGCACCTCTGGGCCCAAAGGGAAAGACACCAGTGGAAAGAG|GAAGCACAAAGGGATTGTTCTGCGATCTTCACAGTGAGAGCCTGCTGGGACTTCTAAAG___TTAATCATTGCAGAAATGACAGTGGTTCTGTTGCTGGAAAAGGAGTCCTGATTCAGACCTGA...ACTCCTGGGATTCTGTAGAGCCCCAGTGAAGAAACTCTGATAAGTGATGAAGAATACACCAAGATAAG___ATTTAAAAGCTGCTTTCAAAAATAATGAATACACTAGAAGATTTTCAGAAGAAAAGAATCGTTAAAGAAGGAGCAACTGC . 01CO019 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 23 6 0 1128 48 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGA)AGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 01CO019 ENSG00000159110.20 ENSG00000225731.1 +/+ -/- chr21:33252830 chr21:42734682 CDS/splice-site exon/splice-site inversion 0 5 0 162 18 medium out-of-frame . Interferon-alpha/beta_receptor__fibronectin_type_III(100%),Tissue_factor(100%)| . . ENSG00000159110.20 ENSG00000225731.1 ENST00000342136.9 ENST00000437426.1 downstream downstream duplicates(1),mismappers(5) ^(GTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTCCGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG___TTTAATTAGACACTTCAGAATTTTGATCACCTAATGTTGATTTCAGATGTAAAAGTCAAGAGAAGACTCTAAAAATAGCAAAGATGCTTTTGAGCCAGAATGCCTTCATCTTCAGATCACTTAATTTGGTTCTCATGG___TGTATATCAGCCTCGTGTTTGGTATTTCATATGATTCGCCTG___ATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAG___TAAACCAGAAGATTTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACA___TGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTTCCATCTATTGTTGAGGAAGAATTACAGTTTGATTTATCTCTCGTCATTGAAGAACAGTCAGAGGGAATTGTTAAGAAG___CATAAACCCGAAATAAAAGGAAACATGAGTGGAAATTTCACCTATATCATTGACAA)GTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAG|GAGAATCACTTGAACCCAGGAGGCGAAGGTTGCATTGAGCCAAGATTGTGCTATTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTCAAAAAAAGAAAAAGAAAAGCGACGACATTCAGTCAATCA(GCCAGATATTTTTGGTGATGCTGCAACTCTTAATGGTATCCTGTCTGGATTCTGTTTATTTAGTTCCTAAGTTGGTAAATACAGTGCCTGTTAATCATTAACCTTTGCCTTGTCATTGACAAAGAGTTCACTTGTCAAGCTGTGAGTGGAACACAGAATTGTGAGGCCTATGGAATTCAAGCATTGATCTTGATATTATGGATGAGGACAAAAAGGGTGGGTGACTTGAAGCTGTTTTCTTCCCAGAATTTGAGCTTTGTGATCATTGAATCAGGACTTGAATCGACACTCCTTGGCTCCCTAGTCCTTTTTCTGCTTTTCCTTTGGTGGTGATTGGAGGCTGTAGTAGGCTGTTCTTCTGTTGCTATAAAGAGATACCTGAGGCTGGGCAATTTATAAGCAAAAGAGGTTTGATTGGCTCCCAGTTCTGTGGGCTTTACAGGAAGCCTGGTGCCGGCATCTGCTTGGCTCTTGGGGAGGCCTCGAGAAGCCTCCAATCATGGTGGAAGGCAACGGAGAAGCAGGAGGGTAGAGAGATGCCACGTGCTTTTAAACAACCAGATCTTGCGAGAACTCACTATCTCAAGGAGAGCACCAAGCCATTTAGGAGGCATCTGCCTGGTGACCCAAACACCTCCCACCAGCCCCACCTCCAACATTGCGAATGACATTTCAACGTGAGATGTGGAGGGGACATCCAGACTGTATCAGAAACCAAGAGATAACAACTTAGTAGACATATTCCAAAAAATTATGACCCACAGGGTGCCGATCAGTGTGCAGAGAATGTCTTCATTTACACACAAAAAGACACAGACAAGACACTCAGCAGAGGTTCTCAGAGGGGCTAAGTGCGGAAGGCTTCGTGTGTTCATTTTTATTCTTTGGGGCTGAAAGAATGCTTTATACCATGAGCTGTGCTTCTTTTAAAATAGAAATAAAATGCTTAGTTAGTC)$ MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHSIVPTHYTLLYTIMSKPEDLKVVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLFSCSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEEELQFDLSLVIEEQSEGIVKKHKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLPPGQES|gesleprrrrlh* 01CO019 ENSG00000159110.20 ENSG00000225731.1 +/+ -/- chr21:33260727 chr21:42734682 CDS/splice-site exon/splice-site inversion 1 1 0 89 18 medium out-of-frame . Interferon-alpha/beta_receptor__fibronectin_type_III(100%),Tissue_factor(100%)| . . ENSG00000159110.20 ENSG00000225731.1 ENST00000342136.9 ENST00000437426.1 downstream downstream . ^(GTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTCCGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG___TTTAATTAGACACTTCAGAATTTTGATCACCTAATGTTGATTTCAGATGTAAAAGTCAAGAGAAGACTCTAAAAATAGCAAAGATGCTTTTGAGCCAGAATGCCTTCATCTTCAGATCACTTAATTTGGTTCTCATGG___TGTATATCAGCCTCGTGTTTGGTATTTCATATGATTCGCCTG___ATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAG___TAAACCAGAAGATTTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACA___TGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTTCCATCTATTGTTGAGGAAGAATTACAGTTTGATTTATCTCTCGTCATTGAAGAACAGTCAGAGGGAATTGTTAAGAAG___CATAAACCCGAAATAAAAGGAAACATGAGTGGAAATTTCACCTATATCATTGACAAGTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAG___)AATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTG|GAGAATCACTTGAACCCAGGAGGCGAAGGTTGCATTGAGCCAAGATTGTGCTATTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTC[a]AAAAAAAGAAAAAGAAAAGCGACGACATTCAGTCAATCAGCCAGATATTTTTGGTGATGCTGCAACTCTTAATGGTATCCTGTCT(GGATTCTGTTTATTTAGTTCCTAAGTTGGTAAATACAGTGCCTGTTAATCATTAACCTTTGCCTTGTCATTGACAAAGAGTTCACTTGTCAAGCTGTGAGTGGAACACAGAATTGTGAGGCCTATGGAATTCAAGCATTGATCTTGATATTATGGATGAGGACAAAAAGGGTGGGTGACTTGAAGCTGTTTTCTTCCCAGAATTTGAGCTTTGTGATCATTGAATCAGGACTTGAATCGACACTCCTTGGCTCCCTAGTCCTTTTTCTGCTTTTCCTTTGGTGGTGATTGGAGGCTGTAGTAGGCTGTTCTTCTGTTGCTATAAAGAGATACCTGAGGCTGGGCAATTTATAAGCAAAAGAGGTTTGATTGGCTCCCAGTTCTGTGGGCTTTACAGGAAGCCTGGTGCCGGCATCTGCTTGGCTCTTGGGGAGGCCTCGAGAAGCCTCCAATCATGGTGGAAGGCAACGGAGAAGCAGGAGGGTAGAGAGATGCCACGTGCTTTTAAACAACCAGATCTTGCGAGAACTCACTATCTCAAGGAGAGCACCAAGCCATTTAGGAGGCATCTGCCTGGTGACCCAAACACCTCCCACCAGCCCCACCTCCAACATTGCGAATGACATTTCAACGTGAGATGTGGAGGGGACATCCAGACTGTATCAGAAACCAAGAGATAACAACTTAGTAGACATATTCCAAAAAATTATGACCCACAGGGTGCCGATCAGTGTGCAGAGAATGTCTTCATTTACACACAAAAAGACACAGACAAGACACTCAGCAGAGGTTCTCAGAGGGGCTAAGTGCGGAAGGCTTCGTGTGTTCATTTTTATTCTTTGGGGCTGAAAGAATGCTTTATACCATGAGCTGTGCTTCTTTTAAAATAGAAATAAAATGCTTAGTTAGTC)$ MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHSIVPTHYTLLYTIMSKPEDLKVVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLFSCSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEEELQFDLSLVIEEQSEGIVKKHKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLPPGQESESAESAKIGGIITVFLIALVLTSTIVTLKWIGYICLRNSLPKVL|enhlnpggegcieprlcyctpawtteqdsvsqkkekekrrhsvnqpdifgdaatlngilsgfclfss* 01CO019 ENSG00000249624.9 ENSG00000225731.1 +/+ -/- chr21:33252830 chr21:42734682 CDS/splice-site exon/splice-site inversion 0 5 0 162 18 medium out-of-frame . . . . ENSG00000249624.9 ENSG00000225731.1 ENST00000646150.1 ENST00000437426.1 downstream downstream duplicates(1),mismappers(5) ^(GCCCCCGCGCCGGCGGCGGCGCGGCGCCCGCGCTTCCGTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTCCGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG___ATGTAAAAGTCAAGAGAAGACTCTAAAAATAGCAAAGATGCTTTTGAGCCAGAATGCCTTCATCTTCAGATCACTTAATTTGGTTCTCATGG___TGTATATCAGCCTCGTGTTTGGTATTTCATATGATTCGCCTG___ATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAG___TAAACCAGAAGATTTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACA___TGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTTCCATCTATTGTTGAGGAAGAATTACAGTTTGATTTATCTCTCGTCATTGAAGAACAGTCAGAGGGAATTGTTAAGAAG___CATAAACCCGAAATAAAAGGAAACATGAGTGGAAATTTCACCTATATCATTGACAA)GTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAG|GAGAATCACTTGAACCCAGGAGGCGAAGGTTGCATTGAGCCAAGATTGTGCTATTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTCAAAAAAAGAAAAAGAAAAGCGACGACATTCAGTCAATCA(GCCAGATATTTTTGGTGATGCTGCAACTCTTAATGGTATCCTGTCTGGATTCTGTTTATTTAGTTCCTAAGTTGGTAAATACAGTGCCTGTTAATCATTAACCTTTGCCTTGTCATTGACAAAGAGTTCACTTGTCAAGCTGTGAGTGGAACACAGAATTGTGAGGCCTATGGAATTCAAGCATTGATCTTGATATTATGGATGAGGACAAAAAGGGTGGGTGACTTGAAGCTGTTTTCTTCCCAGAATTTGAGCTTTGTGATCATTGAATCAGGACTTGAATCGACACTCCTTGGCTCCCTAGTCCTTTTTCTGCTTTTCCTTTGGTGGTGATTGGAGGCTGTAGTAGGCTGTTCTTCTGTTGCTATAAAGAGATACCTGAGGCTGGGCAATTTATAAGCAAAAGAGGTTTGATTGGCTCCCAGTTCTGTGGGCTTTACAGGAAGCCTGGTGCCGGCATCTGCTTGGCTCTTGGGGAGGCCTCGAGAAGCCTCCAATCATGGTGGAAGGCAACGGAGAAGCAGGAGGGTAGAGAGATGCCACGTGCTTTTAAACAACCAGATCTTGCGAGAACTCACTATCTCAAGGAGAGCACCAAGCCATTTAGGAGGCATCTGCCTGGTGACCCAAACACCTCCCACCAGCCCCACCTCCAACATTGCGAATGACATTTCAACGTGAGATGTGGAGGGGACATCCAGACTGTATCAGAAACCAAGAGATAACAACTTAGTAGACATATTCCAAAAAATTATGACCCACAGGGTGCCGATCAGTGTGCAGAGAATGTCTTCATTTACACACAAAAAGACACAGACAAGACACTCAGCAGAGGTTCTCAGAGGGGCTAAGTGCGGAAGGCTTCGTGTGTTCATTTTTATTCTTTGGGGCTGAAAGAATGCTTTATACCATGAGCTGTGCTTCTTTTAAAATAGAAATAAAATGCTTAGTTAGTC)$ MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHSIVPTHYTLLYTIMSKPEDLKVVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLFSCSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEEELQFDLSLVIEEQSEGIVKKHKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLPPGQES|gesleprrrrlh* 01CO019 ENSG00000249624.9 ENSG00000225731.1 +/+ -/- chr21:33260727 chr21:42734682 CDS/splice-site exon/splice-site inversion 1 1 0 89 18 medium out-of-frame . . . . ENSG00000249624.9 ENSG00000225731.1 ENST00000646150.1 ENST00000437426.1 downstream downstream . ^(GCCCCCGCGCCGGCGGCGGCGCGGCGCCCGCGCTTCCGTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTCCGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG___ATGTAAAAGTCAAGAGAAGACTCTAAAAATAGCAAAGATGCTTTTGAGCCAGAATGCCTTCATCTTCAGATCACTTAATTTGGTTCTCATGG___TGTATATCAGCCTCGTGTTTGGTATTTCATATGATTCGCCTG___ATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAG___TAAACCAGAAGATTTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACA___TGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTTCCATCTATTGTTGAGGAAGAATTACAGTTTGATTTATCTCTCGTCATTGAAGAACAGTCAGAGGGAATTGTTAAGAAG___CATAAACCCGAAATAAAAGGAAACATGAGTGGAAATTTCACCTATATCATTGACAAGTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAG___)AATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTG|GAGAATCACTTGAACCCAGGAGGCGAAGGTTGCATTGAGCCAAGATTGTGCTATTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTC[a]AAAAAAAGAAAAAGAAAAGCGACGACATTCAGTCAATCAGCCAGATATTTTTGGTGATGCTGCAACTCTTAATGGTATCCTGTCT(GGATTCTGTTTATTTAGTTCCTAAGTTGGTAAATACAGTGCCTGTTAATCATTAACCTTTGCCTTGTCATTGACAAAGAGTTCACTTGTCAAGCTGTGAGTGGAACACAGAATTGTGAGGCCTATGGAATTCAAGCATTGATCTTGATATTATGGATGAGGACAAAAAGGGTGGGTGACTTGAAGCTGTTTTCTTCCCAGAATTTGAGCTTTGTGATCATTGAATCAGGACTTGAATCGACACTCCTTGGCTCCCTAGTCCTTTTTCTGCTTTTCCTTTGGTGGTGATTGGAGGCTGTAGTAGGCTGTTCTTCTGTTGCTATAAAGAGATACCTGAGGCTGGGCAATTTATAAGCAAAAGAGGTTTGATTGGCTCCCAGTTCTGTGGGCTTTACAGGAAGCCTGGTGCCGGCATCTGCTTGGCTCTTGGGGAGGCCTCGAGAAGCCTCCAATCATGGTGGAAGGCAACGGAGAAGCAGGAGGGTAGAGAGATGCCACGTGCTTTTAAACAACCAGATCTTGCGAGAACTCACTATCTCAAGGAGAGCACCAAGCCATTTAGGAGGCATCTGCCTGGTGACCCAAACACCTCCCACCAGCCCCACCTCCAACATTGCGAATGACATTTCAACGTGAGATGTGGAGGGGACATCCAGACTGTATCAGAAACCAAGAGATAACAACTTAGTAGACATATTCCAAAAAATTATGACCCACAGGGTGCCGATCAGTGTGCAGAGAATGTCTTCATTTACACACAAAAAGACACAGACAAGACACTCAGCAGAGGTTCTCAGAGGGGCTAAGTGCGGAAGGCTTCGTGTGTTCATTTTTATTCTTTGGGGCTGAAAGAATGCTTTATACCATGAGCTGTGCTTCTTTTAAAATAGAAATAAAATGCTTAGTTAGTC)$ MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHSIVPTHYTLLYTIMSKPEDLKVVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLFSCSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEEELQFDLSLVIEEQSEGIVKKHKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLPPGQESESAESAKIGGIITVFLIALVLTSTIVTLKWIGYICLRNSLPKVL|enhlnpggegcieprlcyctpawtteqdsvsqkkekekrrhsvnqpdifgdaatlngilsgfclfss* 01CO019 ENSG00000170390.16 ENSG00000157570.12 +/+ +/- chr4:150079448 chr11:44744358 CDS/splice-site intron translocation/5'-5' 3 0 0 6 1 medium out-of-frame . Doublecortin(100%)| . . ENSG00000170390.16 ENSG00000157570.12 ENST00000296550.12 . downstream downstream . ^(AGACACGGCCCTCTCAGCCCCGAACGGCGCGCGCTGCCCGGCGGGCGGGATCCGGGCGCGGCCGAGGCGGCGGCGCTGCACCCCGGGCCTGGGCCCGCGCGACTCCCCCGGGGGCCTCTCCCACGCTCCGCGCCCCGCCCCACCCTTCCTTCCTTCCTCCCCTCGGCGCTCCCGGGAGCGCTCGGCAGACGCCCGAGCTTTGTGGGCGCCCGCGGGCCCAGCGCGAGCCTCGGGCGGCCCAACTTTGCCTCTCCCGGTCGGCTCCCGAGCGGGACTTGTGAGGCGTGGCCGGGTGGAGGAGGCGCTTGCGGGGGCGTGGGGCTCCCCGGCAGGCGGGAGGCACGGAGCAAGTCGCACTGGACAATGACCTGGGCAGCTCGGCGCTGCGGACACTTTTAGCTGAGGGCGCGGGCGGGTCGGCTCCTCCGCGGCTCCTCGGCCCCACCTGCGCGGAGAGGGCGGGATGCCAGAGCCAGGTGTCCCGGCGCGTTAAGGGCCCTCGCAGTCAGACGTCCCTGCACCGGCGCTCGCACCCTTAGTCGGCCCGGAACGTCTTTTTGCGGACGCCCTCGGAGCAGCCGCGATGGCCAGCACCAGGAGTATCGAGCTGGAGCACTTTGAGGAACGGGACAAAAGGCCGCGGCCGGGGTCGCGGAGAGGGGCCCCCAGCTCCTCCGGGGGCAGCAGCAGCTCGGGCCCCAAGGGGAACGGGCTCATCCCCAGTCCGGCGCACAGTGCCCACTGCAGCTTCTACCGCACGCGGACCCTGCAGGCCCTCAGCTCGGAGAAGAAGGCCAAGAAGGCGCGCTTCTACCGGAACGGGGACCGCTACTTCAAGGGCCTGGTGTTTGCCATCTCCAGCGACCGCTTCCGGTCCTTCGATGCGC)TCCTCATAGAGCTCACCCGCTCCCTGTCGGACAACGTGAACCTGCCCCAGGGTGTCCGCACTATCTACACCATCGACGGCAGCCGGAAGGTCACCAGCCTGGACGAGCTGCTGGAAG|CTAAGCAGTAAACAGTGGAGACAGA MASTRSIELEHFEERDKRPRPGSRRGAPSSSGGSSSSGPKGNGLIPSPAHSAHCSFYRTRTLQALSSEKKAKKARFYRNGDRYFKGLVFAISSDRFRSFDALLIELTRSLSDNVNLPQGVRTIYTIDGSRKVTSLDELLE|akq* 01CO022 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 18 0 36 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),mismatches(1) GGGcCATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG(___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01CO022 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 5 0 196 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 mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAAT)GGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01CO022 ENSG00000146205.14 ENSG00000079739.17 +/+ +/- chr2:241191251 chr1:63660239 CDS/splice-site 3'UTR translocation/5'-5' 4 1 1 19 13 high out-of-frame . Dimerisation_domain_of_Ca+-activated_chloride-channel__anoctamin(100%)| . . ENSG00000146205.14 ENSG00000079739.17 ENST00000674324.1 . downstream downstream . ^(AAAGATAGATCCTGCTCCAGGAGCCGGGAAGCCTTGCCCTGGCCAGCTGTGCTGGGCACCTCCCCTGCCTGCTTCCTGGCCCACTTGCAGGCAAGGTGAGGGCATGCGAATGGCTGCCACTGCCTGGGCGGGGCTCCAAGGGCCACCCCTCCCCACCCTCTGTCCCGCAGTGAGGACGGGACTCTACTGCCGAGACCAGGCTCACGCTGAGAGGTGGGCCATGACCTCCGAGACCTCTTCCGGAAGCCACTGTGCCAG___GAGCA)GGATGCTGCGGCGACGGGCCCAGGAAGAGGACAGCACCGTCCTGATCGATGTGAGCCCCCCTGAGGCAGAGAAGAGGGGCTCTTACGGGAGCACAGCCCACGCCTCGGAG___CCAGGTGGACAGCAAGCGGCCGCCTGCAGAGCTGGGAGTCCTGCCAAGCCCCGGATCG|CTTATTTTCCTTTATTATCCCAAAATATCTGTGTGAATGGGACAATGTCGCAAAACAAGGCAGAAATCTGTAGCCAAGTACGTCTCACTCAGAGGAAAGAACTGATTGGACAGAAGGCACTAGAAATTGCATTTTGTTGGGTTACATGTAAACAGGAAAT MLRRRAQEEDSTVLIDVSPPEAEKRGSYGSTAHASEPGGQQAAACRAGSPAKPRI|ayfpllsqnicvngtmsqnkaeicsqvrltqrkeligqkaleiafcwvtckqe 01CO022 ENSG00000079739.17 ENSG00000146205.14 +/- +/+ chr1:63660051 chr2:241191560 3'UTR intron translocation/3'-3' 1 2 0 111 3 medium . . |Calcium-activated_chloride_channel(100%),Dimerisation_domain_of_Ca+-activated_chloride-channel__anoctamin(100%) . . ENSG00000079739.17 ENSG00000146205.14 . . upstream upstream duplicates(1),mismatches(1) AAAATATCTGTGTGAATGGGACAATGTCGCAAAACAAGGCAGAAATCTGTAGCCAAGTACGTCTCACTCAGAGGAAAGAACTGATTGGACAGAAGGCACTAGAAATTGCATTTTGTTGGGTTACATGTAAACAGGAAATGGGGGGAAAGATTCACAAAAGAGAAAGGA|CATTTCTGACTCTTATCTCTTGCACTCCACCCCTTTTGTACCTTCAAAATCTCTTTGATCCACCCCCAACCCACTGCCTCTGTC . 01CO022 ENSG00000189283.10 ENSG00000189283.10(190944),ENSG00000144724.20(119168) -/- ./- chr3:61200617 chr3:61442403 5'UTR/splice-site intergenic duplication 2 1 0 37 15 high out-of-frame . . . . ENSG00000189283.10 . ENST00000492590.6 . upstream downstream duplicates(1),mismatches(1) ^(AGTCCCCGCTCTGCTCTGTCCGGTCACAGGACTTTTTGCCCTCTGTTCCCGGGTCCCTCAGGCGGCCACCCAGT)GGGCACACTCCCAGGCGGCGCTCCGGCCCCGCGCTCCCTCCCTCTGCCTTTCATTCCCAGCTGTCAACATCCTGGAAG___CTTTGAAGCTCAGGAAAGAAGAGAAATCCACTGAGAACAGTCTGTAAAG|ATAAACTTCCTCCACGTGACCAGATGAGTGGAGGTGAGATGGAGAGTGAGATTGCCAGGAAGAACTCCTGCCTTGCCATTCCAGC 05CO002 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 21 0 35 125 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),inconsistently_clipped(1),mismappers(1) GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCC(AACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO002 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 13 0 56 36 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1),mismatches(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTA)GTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsv 05CO002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 13 0 54 28 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGG)GCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO002 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 4 13 0 36 27 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismatches(1) CCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTG(ACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO002 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 9 0 15 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 . CGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTC(TGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 17 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 mismatches(1) ATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTAC(AGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO002 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 8 4 0 25 23 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(5),mismappers(1),mismatches(1) AGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGAC(ACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO002 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 2 8 0 14 28 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream duplicates(2) GCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACC(TTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05CO002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 4 0 117 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAG)AAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO002 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 1 2 0 56 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAA)GGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTG?CCACATTGAGGAATCGTGTAAAATGAAT___CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnps?hieesckmnpfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgpr 05CO003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 21 0 56 53 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(2),mismappers(1) GGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAG(AACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO003 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 11 0 37 36 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGgGG(AATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 25 94 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismatches(1) AGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCT(GCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO003 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 5 9 0 22 29 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(2),mismatches(3) TCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCT(GTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 05CO003 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 38 27 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(3),mismappers(1),mismatches(2) AGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTT(GGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO003 ENSG00000237296.9 ENSG00000243716.10 +/+ +/+ chr16:22491825 chr16:22513520 exon 5'UTR deletion/read-through 4 6 0 26 74 medium . . |Nuclear_pore_complex_interacting_protein_(NPIP)(100%) . . ENSG00000237296.9 ENSG00000243716.10 ENST00000309865.11 ENST00000517539.5 downstream upstream duplicates(2),inconsistently_clipped(1),mismatches(2),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___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAGGGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACCCGATAGAACAAGATCAGAAGTGGCAGTCTATAAC)TGA___AAATGTGGTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTaTCTACTTTAACAGTTTCACAGTCTTTGCCAGTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAGGTATACTGTGTACCAGAATCAGTTGTTGGAGAAAATTAA|AGGTATGATCTCGTGAAATCTTGAGAGAAACTGAATGACGAATGAAACTATTGTTCCTGTTTCACACAGAAGAAAACTGAGGTTAAAAG(GG___GTTGGCACTCATCATGAGCCCCTGTTCTCATTCTGCAAATGGTGAAGCTCTCTATTGTCCTGACCCCACAGTTCCTGTCCCATGACCAGGGCCAGCTCACCAAGGAGCTGCAGCAGCATGTAAAGTCAGTGACATGCCCATGCGAGTACCTGAGGAAG___GTTATCAATACTCTGGCTGACCATCATCATCGTGGGACTGACTTTGGTGGAAGTCCTTGGTTACATGTCATTATTGCGTTTCCGACAAGTTATAAAGTTGTCATTACCCTCTGGATAGTTTACCTTTGG___GTGTCTCTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATGGATCCACGGATGTACAGCAGAGAGCCTGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCGAGGAAATAAAATTGGCCTGAAAGACGTCATTACTCTACGGAGACATGTGGAAACAAAAGTTAGAGCTAAAATCCGTAAGAGGAAGGTGACAACGAAAATCAACCATCATGACAAAATCAATGGAAAGAGGAAGACCGCCAGAAAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGCGGCGAGCAGAGGACTACCACAAATGCAAA___ATCCCCCCTTCTGCAAGAAAGGCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCACCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGGATTCCGCTTCCACCATCAGCCGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTGAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCTTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCCGATGATAATCTCAAGACACCTCCCTTAGCTACTCAGGAGGCTGAGGCAGAAAAACCACGCAAACCCAAGAGGCAGAGGGCGGCTGAGATGGAACCACCTCCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGATGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATTACCCGAACCCAAGAGGCGGAGGTTGAGCTGAGAAGAGGCCAGTGCACTCAAGCCTGAGCAATAAGAATAAAACCGAGTAGAACAAAATAAAAAATTCAAAAAACAAAACAAAACCCACACTCC)$ . 05CO003 ENSG00000233316.4(21379),ENSG00000226012.1(7194) ENSG00000157551.19 ./+ +/+ chr21:38230023 chr21:38257046 intergenic 5'UTR/splice-site deletion/read-through 1 2 0 11 10 medium . . |Inward_rectifier_potassium_channel(100%) . . . ENSG00000157551.19 . ENST00000613499.4 downstream upstream . GTTTATACATTCAGCAGCTGATGGGCATTTGGGTTGCATCCACTTTTTGGCTGTTCTGAAGAGTGTTACTGTGAACATTCATGCACAAATTTTTATGTGGAG|TGAACAGTGAGAGAGTTTTCTTCATTTTGAGGAACCCTAAACACCTATCTTTCCCAAGGCAACCTGTCTGGACTGAGCATTTCTCTGACTTGACATAACTTCCCATCCAGCCAGGAGgCTGCACTCTTCAGTCTTTGCAG___ATAACTTTTAAGTGGTGAAGAGTATAAATCGTGGTTTTCCAAGTGTAGgCTAAG(GTCTAACAGCATCGGGGATATCTGGGAAATTATCAGAACTACAGACCCTCTGGCTGCACCCCAAACCTGCTGAATCGGAAATTCTGAG___GCAGTAGCAGAATCCCATGGTAGCCAGGTGGGTGAAGGGGAGCGAGGACGTTCTACCTGCCTTGAAGAAGACACCTGACCTGCGGAGTGAGTGACCAG___TGTTTCCAGAGCCTGGCAATGGATGCCATTCACATCGGCATGTCCAGCACCCCCCTGGTGAAGCACACTGCTGGGGCTGGGCTCAAGGCCAACAGACCCCGCGTCATGTCCAAGAGTGGGCACAGCAACGTGAGAATTGACAAAGTGGATGGCATATACCTACTCTACCTGCAAGACCTGTGGACCACAGTTATCGACATGAAGTGGAGATACAAACTCACCCTGTTCGCTGCCACTTTTGTGATGACCTGGTTCCTTTTTGGAGTCATCTACTATGCCATCGCGTTTATTCATGGGGACTTAGAACCCGGTGAGCCCATTTCAAATCATACCCCCTGCATCATGAAAGTGGACTCTCTCACTGGGGCGTTTCTCTTTTCCCTGGAATCCCAGACAACCATTGGCTATGGAGTCCGTTCCATCACAGAGGAATGTCCTCATGCCATCTTCCTGTTGGTTGCTCAGTTGGTCATCACGACCTTGATTGAGATCTTCATCACCGGAACCTTCCTGGCCAAAATCGCCAGACCCAAAAAGCGGGCTGAGACCATCAAGTTCAGCCACTGTGCAGTCATCACCAAGCAGAATGGGAAGCTGTGCTTGGTGATTCAGGTAGCCAATATGAGGAAGAGCCTCTTGATTCAGTGCCAGCTCTCTGGCAAGCTCCTGCAGACCCACGTCACCAAGGAGGGGGAGCGGATTCTCCTCAACCAAGCCACTGTCAAATTCCACGTGGACTCCTCCTCTGAGAGCCCCTTCCTCATTCTGCCCATGACATTCTACCATGTGCTGGATGAGACGAGCCCCCTGAGAGACCTCACACCCCAAAACCTAAAGGAGAAGGAGTTTGAGCTTGTGGTCCTCCTCAATGCCACTGTGGAATCCACCAGCGCTGTCTGCCAGAGCCGAACATCTTATATCCCAGAGGAAATCTACTGGGGTTTTGAGTTTGTGCCTGTGGTATCTCTCTCCAAAAATGGAAAATATGTGGCTGATTTCAGTCAGTTTGAACAGATTCGGAAAAGCCCAGATTGCACATTTTACTGTGCAGATTCTGAGAAACAGCAACTCGAGGAGAAGTACAGGCAGGAGGATCAGAGGGAAAGAGAACTGAGGACACTTTTATTACAACAGAGCAATGTCTGATCACAGGGGCGCCATCCAGGTTTAACCCTGCAAGCTGTTTCCACATCAGAACTCCCTTCAAACACAAAGATTGCTGTGAAAACGAAAATGTGTAGACGCACTCTCAAAAACTGCACGGACATACAAAATCAATCTTTTCCTTTGATCTTGTGGCTAAACCAGCATTTCTGTGTTTGAGAGATTTCCTGTTAGGTGCTTCGTCTGAAAGTGAACTCTCATAATTCAAATTGTATAAAATAAAGCTACATTTCTAAGAGCTTGGTGTAGGGCAATTGGAATAATGTCCTGTTAGATAAACAGACATTTAGCAATCCTGACATTAAAAGGAAATGTATTTCTATACAAGATTATTAGCTGTAATACAAGATATTTATTTAACCAATGACCTTATGGCTGAGAGTTGAATTGTGGTTCAGTATTCATTGATCTCACTGCTTTAAAACATGCTCTTTTTGTTCAAGCAGGAAAAATATTATATCTAATTATGTCTATGTGGTAATACCTAAAAAGAGGTAGAGAGACTCTATGTTCACAAAATATAGTAATTTCATTTTTACCTTTCTTCAGTGGACTGAATTGTATGGAAGGAAATTGATCAGATCTGTAATTCACAACTGTGGAAACCTACACAAATGGGGCTGATGCCATTGTTTCCTCTATTTTATTTTATTTATTTTTGAATCCACTATCTCTTTCCATTCAAAATATTTCCATTCAAAATGTGGTTCACAGACCCGCCACATCAGCACCATCCGAGAGCTTATTAGTAATGTGTAGATTCTCATGTCCCAGCCAGACTTACAGAATTGGGGTCTGTATCTTAACAAGAACCCCAGATGATTTGTGTACAAATGAAAGTTCGAAAGCTGTGCTCTGGACAGTGTTCTCAAAGCAACTTTCTGAAGCCGTGTGGAAAACTGACTCTGTGTGGGTCCCGTATCCCTGTGGCATCCAGACCTGGCCTCTCTTCATTTCATTATTATTGGCCAATATTTCTTTCAGCCATTTCATTTCTTATCTATTAAAATGGCTTGCCCATAAAGGAACTGCATAGGATTATCCCCTGACATTCCAAGAGCAAAATAAAGCTCTTGAGAGTAATTGTTGTCTCAGTCATGCTTGCTGATTACAGTTAGCACAAAAGAAAAATTCAGCTGCCTGACAATACAGGAAATGTTCTCAGATGCTGATGTTTGTAAGGTCCGGTGGGGCCATGAGGAAGAAGAGGAGCTGAAGGTAAGAAACTCATAAACAAGATGACTCTTTGATGCATGAACAAGATTTGAAAATCTCAAGCCTGTAAAGAATACCCCTGCTATTTAAATAAAGCTCATACCAAGAGGTAACATTTTGCCCCGGGCCAAATTCAGGGGTCTAGTGCCCTGCATTCCTTTGAGGCAAAAAATAAATGGGCTATGACTGGTTAAATGTCC)$ . 05CO005 ENSG00000089154.11 ENSG00000089157.16 -/- -/- chr12:120190298 chr12:120197462 CDS/splice-site CDS/splice-site duplication 187 300 0 860 18573 high out-of-frame . |60s_Acidic_ribosomal_protein(100%) . . ENSG00000089154.11 ENSG00000089157.16 ENST00000300648.7 ENST00000228306.8 upstream downstream duplicates(78),mismatches(2) ^GGAGTCAGCCCCGGCAGGATGGCGGCGGACACGCAG___GTTTCCGAGACACTAAAGCGTTTTGCAGGGAAGGTGACAACAGCCAGTGTAAAGGAACGGAGAGAAATCCTCAGTGAACTTGGGAAGTGTGTTGCTGGAAAAG|GGTGTCCGCAATGTTGCCAGTGTCTGTCTGCAGATTGGCTACCCAACTGTTGCATCAGTACCCCATTCTATCATCAACGGGTACAAACGAGTCCTGGCCTTGTCTGTGGAGACGGATTACACCTTCCCACTTGCTGAAAAG___GTCAAGGCCTTCTTGGCTGATCCATCTGCCTTTGTGGCTGCTGCCCCTGTGGCTGCTGCCACCACAGCTGCTCCTGCTGCTGCTGCAGCCCCAGCTAAGGTTGAAGCCAAGGAAGAGTCGGAGGAGTCGGACGAGGATATGGGATTTGGTCTCTTTGACTAATCACCAAAAAGCAACCAACTTAGCCAGTTTTATTTGCAAAACAAGG(AAATAAAGGCTTACTTCTTT)$ MAADTQVSETLKRFAGKVTTASVKERREILSELGKCVAGK|gcpqccqclsadwlpnccistpfyhqrvqtspglvcgdglhlptc* 05CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 24 16 0 55 63 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(6) AGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAG(GAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO005 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 6 10 0 92 135 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream . GGCGTAACTGAGAATACAGCCTTGGGACCTTCG___GAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCC(TGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 05CO005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 5 0 182 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(3),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAG)AAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO005 ENSG00000141447.18 ENSG00000260372.7 -/- +/+ chr18:24318601 chr18:26876592 CDS/splice-site intron inversion 3 9 0 52 19 high out-of-frame . Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%)| . . ENSG00000141447.18 ENSG00000260372.7 ENST00000319481.8 . upstream upstream duplicates(1),mismappers(3) ^(GTGGTCCCGGCGCCGGGTCCCGGAGACAGACGTTACGCGGGCTCGAGCGTCCTCGGGGAGTGCCAGCCAGAGTTGGTGACGACCACTTCCTCGACGTGGGGCGGGCGGACGGGAAGCCTGGGGTCGTGGCCACCGCCTCGGGAGCTCTGGGAGCCCGGGTGACCGCGTAG___AAATGAACACAGAAGCGGAGCAACAGCTTCTCCATCACGCCAGAAATGGCAATGCTGAAGAAGTAAGACAACTATTAGAGACCATGGCGAGGAATGAAGTGATTGCTGACATTAATTGCAAAG___GAAGAAGTAAGTCTAACTTGGGCTGGACACCTCTACATCTGGCATGCTATTTTGGACACAGACAAGTGGTCCAGGATCTGTTGAAG___GCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAG___GAGTTGGTAATGCTTCTCTTAGAATATAATGCTGATACTACTATTGTTAATGGGAGTGGACAGACAGCAAAAGAAGTTACTCATGCTGAAGAAATCAGAAGCATGCTTGAAG___CTGTAGAAAGGACTCAACAAAGAAAGCTTGAAGAATTACTTTTAGCAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTG___CTCAACAGGCCCAATCCTCCTGATGTTAACTGTTCGGATCAGTTAGGAAATACACCCTTGCATTGTGCAGCTTACCGGGCC)CATAAACAATGTGCCTTAAAGCTTCTAAGAAGTGGAGCAGACCCTAATCTGAAGAACAAAAATG___ATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAAATGAAACACATTCTTGTTGGTAATAAG___GTCATCTACAAAGCATTGAAACGATATGAGGGCCCTCTCTGGAAG|GGTCTTGCTCCATCCAGGCTGGAGTACCGGGGTGCTGTCACAGCTCACTGTAGTCTCGAACGCCTGGACTCGAGTGATCCTCCTACCTCAGCCTTCTAAGTAGCTGGGACTACAGGCATGCACCACCATGCTAAGCTAATTTGCAAACACTTTTTGTTGAGACGGGGGGTCTTGCTgTGTTGCCAGGCTGGTGTTGAATTTCTGGTGTTGTTCAGGCTGGTTTCAAGTGATGTTCTTGCCCCAGCCTCCCAAAGTGCTGGGACTATAGGTGTGAGTCACCTTATTTTATAAG MNTEAEQQLLHHARNGNAEEVRQLLETMARNEVIADINCKGRSKSNLGWTPLHLACYFGHRQVVQDLLKAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLLAAAREGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALKRYEGPLWK|glapsrleyrgavtahcslerldssdpptsaf* 05CO005 ENSG00000101558.14 ENSG00000141447.18 +/+ -/- chr18:9937066 chr18:24317400 CDS/splice-site CDS/splice-site inversion 2 4 0 387 39 high in-frame . MSP_(Major_sperm_protein)_domain(100%)|Oxysterol-binding_protein_(100%) . . ENSG00000101558.14 ENSG00000141447.18 ENST00000400000.7 ENST00000319481.8 downstream downstream duplicates(1) ^(GAGGCTCGCAAGTGCGCGTGGCCGTGGCGGCTGGTGTGGGGTTGAGTCAGTTGTGGGACCCGGAGCTGCTGACCCAGCGGGTGGCCCACCGAACCGGTGACACAGCGGCAGGCGTTAGGGCTCGGGAGCCGCGAGCCTGGCCTCGTCCTAGAGCTCGGCCGAGCCGTCGCCGCCGTCGTCCCCCGCCCCCAGTCAGCAAACCGCCGCCGCGGGCGCGCCCCCGCTCTGCGCTGTCTCTCCGATGGCGTCCGCCTCAGGGGCCATGGCGAAGCACGAGCAGATCCTGGTCCTCGATCCGCCCACAGACCTCAAATTCAAAG___GCCCCTTCACAGATGTAGTCACTACAAATCTTAAATTGCGAAATCCATCGGATAGAAAAGTGTGTTTCAAAGTGAAGACTACAGCACCTCGCCGGTACTGTGTGAGGCCCAACAGTGGAATTATTGACCCAGGGTCAACTGTGACTGTTTCAG___TAATGCTACAGCCCTTTGACTATGATCCGAATGAAAAGAGTAAACACAAGTTTATGGTACAGACAATTTTTGCTCCACCAAACACTTCAGATAT)GGAAGCTGTG___TGGAAAGAGGCAAAACCTGATGAATTAATGGATTCCAAATTGAGATGCGTATTTGAAATGCCCAATGAAAATGATAAATTG|AGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCATGGAGTCCTTTCATGGTATAGGAAACA___GCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGTATGCACG(___GTAAAATCCACTGATAGCTGCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAGTCAAGAGAG___GACTGGCTGGAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGAGGAGGAGGAAGATACGGTTTCTGCTGCAGACCTGAAGAAATCATTAGAG___AAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTTCTCAAAATGATTAAGGAGTGTGACATGGCTAAAG___AAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTCTAGAGAAACTTGTGTAGCTTTGACTGATTGCCTTAATCTCTTCACCAAACAAGAAGGG___GTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAACAAAATCTTGTCAGAAGCACTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGCCAGCATCCTTAGCGAGGACGAGTTCTATGATGCGCTGTCAG___ATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTTGAAGAGGAAGGAGAGCATTTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAATGGCATCAAGAAACACAG___AACAAGTTTGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATG___GAACTATCCAAGATCACGATGCCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTACCTCATCCACAAGGCCAGTTCACTCTCTGATCCTGTGGAAAGGATGCAG___TGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGGACTGGAAAACCTTTCAACCCACTGCTGGGAGAGACTTATGAATTAGTGCG___AGATGACCTTGGATTTAGACTCATCTCCGAACAGGTCAGCCATCACCCACCAATCAGTGCATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGGGGGAAGAGTGTAGAAGCAGAACCCAAAGGAACCATCACCTTGGAGCTCCTTGA___ACACAATGAGGCATATACATGGACAAATCCCACCTGCTGTGTGCATAATATCATTGTGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAA___GACTGGGGACAAATGTGTGTTGAATTTTAAGCCATGTGGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAG___CAAAAAGAAGCTCTGTGCCCTCTATGGGAAGTGGACTGAATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAGAAGAAGAACAGCAAACAG___ATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCCTGGAAGCGTTCTTCTATGGCGAATAGCCCCACGGCCTCCAAATTCTGCCCAG___ATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGACAAAGACATGGAGAGTGTGATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAG___ATCAAGCTAGTGAAGAAAAAAAACGACTTGAGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAG___GTGGTTCCATCAAGGTCCTAATCCCTACAATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGACATTTATTAAAATGCATACAAGTCAGGGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTCTACTTATCTTTTAAAAAAAAAAATGAAAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGATGAAAGTCTTAGGAAAAATGCATAATTTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGGAATATGCTTTTTATGGTTGCTGTTGCCATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCAAATCAAGTTATTTTGAATATTTTTATGCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAATGTTTATTCTCAGATATAGAGGTTATGTCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCCCTTCCATCTTCCAAGAAGAAAAAAAATGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTATTTCATTTACTTAGTGCTCTGAATTTACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATATGTATAAAATCTAGCAATTCACAAAAATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCACTTCCAGTGGCAAATGCCACTAGGGAAAGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGCAAAGTACCTGTGTACTTAAAATATGTGTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATAGTATTTATCCACCCAAACCCCAGACTGAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTTAACAAGTGTTATAATGAAATAATCTACCTGATGCTAAATAAAGGCTTTAGAATGTTC)$ MASASGAMAKHEQILVLDPPTDLKFKGPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKHKFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKL|SSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWLEAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALTDCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEHLGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSLSDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEAEPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWTECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESVIPKTDCRLRPDIRAMENGEIDQASEEKKRLEEKQRAARKNRSKSEEDWKTRWFHQGPNPYNGAQDWIYSGSYWDRNYFNLPDIY* 05CO005 ENSG00000101558.14 ENSG00000141447.18 +/+ -/- chr18:9945058 chr18:24317400 CDS/splice-site CDS/splice-site inversion 1 1 0 27 39 high in-frame . MSP_(Major_sperm_protein)_domain(100%)|Oxysterol-binding_protein_(100%) . . ENSG00000101558.14 ENSG00000141447.18 ENST00000340541.4 ENST00000319481.8 downstream downstream mismatches(1) ^(TCAGTTGTGGGACCCGGAGCTGCTGACCCAGCGGGTGGCCCACCGAACCGGTGACACAGCGGCAGGCGTTAGGGCTCGGGAGCCGCGAGCCTGGCCTCGTCCTAGAGCTCGGCCGAGCCGTCGCCGCCGTCGTCCCCCGCCCCCAGTCAGCAAACCGCCGCCGCGGGCGCGCCCCCGCTCTGCGCTGTCTCTCCGATGGCGTCCGCCTCAGGGGCCATGGCGAAGCACGAGCAGATCCTGGTCCTCGATCCGCCCACAGACCTCAAATTCAAAG___GCCCCTTCACAGATGTAGTCACTACAAATCTTAAATTGCGAAATCCATCGGATAGAAAAGTGTGTTTCAAAGTGAAGACTACAGCACCTCGCCGGTACTGTGTGAGGCCCAACAGTGGAATTATTGACCCAGGGTCAACTGTGACTGTTTCAG___TAATGCTACAGCCCTTTGACTATGATCCGAATGAAAAGAGTAAACACAAGTTTATGGTACAGACAATTTTTGCTCCACCAAACACTTCAGATATGGAAGCTGTG___TGGAAAGAGGCAAAACCTGATGAATTAATGGATTCCAAATTGAGATGCGTATTTGAAATGCCCAATGAAAATGATAAATTG___GGTATAACTCCACCAGGGAATGCT)CCGACTGTCACTTCAATGAGCAGCATCAACAACACAGTTGCAACACCTGCCAGTTATCACACGAAGGATGACCCCAGGGGACTCAGTGTGTTGAAACAGGAGAAACAGAAG|AGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCATGGAGTCCTTTCATGGTATAGGAAACA___GCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGTATGCACG(___GTAAAATCCACTGATAGCTGCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAGTCAAGAGAG___GACTGGCTGGAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGAGGAGGAGGAAGATACGGTTTCTGCTGCAGACCTGAAGAAATCATTAGAG___AAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTTCTCAAAATGATTAAGGAGTGTGACATGGCTAAAG___AAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTCTAGAGAAACTTGTGTAGCTTTGACTGATTGCCTTAATCTCTTCACCAAACAAGAAGGG___GTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAACAAAATCTTGTCAGAAGCACTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGCCAGCATCCTTAGCGAGGACGAGTTCTATGATGCGCTGTCAG___ATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTTGAAGAGGAAGGAGAGCATTTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAATGGCATCAAGAAACACAG___AACAAGTTTGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATG___GAACTATCCAAGATCACGATGCCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTACCTCATCCACAAGGCCAGTTCACTCTCTGATCCTGTGGAAAGGATGCAG___TGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGGACTGGAAAACCTTTCAACCCACTGCTGGGAGAGACTTATGAATTAGTGCG___AGATGACCTTGGATTTAGACTCATCTCCGAACAGGTCAGCCATCACCCACCAATCAGTGCATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGGGGGAAGAGTGTAGAAGCAGAACCCAAAGGAACCATCACCTTGGAGCTCCTTGA___ACACAATGAGGCATATACATGGACAAATCCCACCTGCTGTGTGCATAATATCATTGTGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAA___GACTGGGGACAAATGTGTGTTGAATTTTAAGCCATGTGGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAG___CAAAAAGAAGCTCTGTGCCCTCTATGGGAAGTGGACTGAATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAGAAGAAGAACAGCAAACAG___ATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCCTGGAAGCGTTCTTCTATGGCGAATAGCCCCACGGCCTCCAAATTCTGCCCAG___ATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGACAAAGACATGGAGAGTGTGATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAG___ATCAAGCTAGTGAAGAAAAAAAACGACTTGAGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAG___GTGGTTCCATCAAGGTCCTAATCCCTACAATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGACATTTATTAAAATGCATACAAGTCAGGGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTCTACTTATCTTTTAAAAAAAAAAATGAAAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGATGAAAGTCTTAGGAAAAATGCATAATTTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGGAATATGCTTTTTATGGTTGCTGTTGCCATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCAAATCAAGTTATTTTGAATATTTTTATGCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAATGTTTATTCTCAGATATAGAGGTTATGTCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCCCTTCCATCTTCCAAGAAGAAAAAAAATGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTATTTCATTTACTTAGTGCTCTGAATTTACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATATGTATAAAATCTAGCAATTCACAAAAATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCACTTCCAGTGGCAAATGCCACTAGGGAAAGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGCAAAGTACCTGTGTACTTAAAATATGTGTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATAGTATTTATCCACCCAAACCCCAGACTGAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTTAACAAGTGTTATAATGAAATAATCTACCTGATGCTAAATAAAGGCTTTAGAATGTTC)$ MASASGAMAKHEQILVLDPPTDLKFKGPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKHKFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTVATPASYHTKDDPRGLSVLKQEKQK|SSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWLEAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALTDCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEHLGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSLSDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEAEPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWTECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESVIPKTDCRLRPDIRAMENGEIDQASEEKKRLEEKQRAARKNRSKSEEDWKTRWFHQGPNPYNGAQDWIYSGSYWDRNYFNLPDIY* 05CO005 ENSG00000170965.10(74964),ENSG00000199920.1(26773) ENSG00000170965.10 ./- -/- chrX:134733435 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 3 2 0 11 16 medium . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream duplicates(1),mismappers(1) GGAGGAGGGTGAAGCTTCTTGTCTTCCAGACATTCCCGAGGAAAACTTACACGAGGAGTCTGTCAAGGAGTGCCACCCTTTG___GACAAAGAAAACGAGACTGACAACGAAGTCTGAAGGAGAAAGGCAAGTATCTTTCTGCTGGACTGGCCCTCAAGACTTAGCACAA|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTCATAGGACTGATGATCCTCC(TCACCTCTGCGTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCATAGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 05CO005 ENSG00000170965.10(55294),ENSG00000199920.1(46443) ENSG00000170965.10 ./- -/- chrX:134713765 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 4 1 0 6 16 medium . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream . GTCCCTACATCCCTAGCAGACCCACCTCTTCACGGGACCATCCGGACCCTGTACACGTGGACCCTGGCCGTGTAGACACACCTGAGTCCAGGAACGACACAAGCCGCAGGGATCCCAGCCTAGGCACGGAG|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTCATAGGACTGATG(ATCCTCCTCACCTCTGCGTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCATAGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 05CO005 ENSG00000166415.15 ENSG00000211649.3 -/+ +/+ chr15:53684295 chr22:22369785 intron CDS/splice-site translocation/3'-3' 0 3 0 9 23 medium . . |Immunoglobulin_V-set_domain(100%) . . ENSG00000166415.15 ENSG00000211649.3 . ENST00000390295.3 downstream upstream duplicates(1) CCAAGATGGCcGAATAGGAACAGCTCCGGTCTACAGCTCCCAGcGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGG|TCCAATTCCCAGGCTGTGGTGACTCAGGAGCCCTCACTGACTGTGTCCCCAGGAGGGACAGTCACTCTCACCTGTGGCTCCAGCACTGGAGCTGTCACCAGTGGTCATTATCCCTACTGGTTCCAGCAGAAGCCTGGCCAAG(CCCCCAGGACACTGATTTATGATACAAGCAACAAACACTCCTGGACACCTGCCCGGTTCTCAGGCTCCCTCCTTGGGGGCAAAGCTGCCCTGACCCTTTTGGGTGCGCAGCCTGAGGATGAGGCTGAGTATTACTGCTTGCTCTCCTATAGTGGTGCTCGG)$ . 05CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 22 19 0 56 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(1),mismappers(1),mismatches(3) CCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO006 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 14 0 57 37 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCA)TTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO006 ENSG00000158321.18 ENSG00000236978.1(84999),ENSG00000185274.12(209132) +/+ ./+ chr7:70698620 chr7:70923012 CDS/splice-site intergenic deletion/read-through 5 10 0 41 21 high . . . . . ENSG00000158321.18 . ENST00000644359.1 . downstream upstream duplicates(1),mismappers(1),mismatches(2) ^(CGAGCGTCTGGAGGAGGCGCGCTCGGCGCAGTCGGGGAGCGAAGTCCGGAGCAAGGGGCCCCCGCGTAGCCGCCGCCCCCTCCTGCTACCGTCCAGCCAGGGAGCCCGCGGCGGCCGCCGATGGAGTTCACTTGAGCTGTGAACCGGCGGGAGAGGCAGGCGCCCGCAAGCCGAGCGCGGGCCGGAGCCCAGCCAGCCCCGGGCGCTCACCCGCCAGCCCGCAAGCTCCGGCCAGAGGCGCCGCCGCCCCGCGCCCCGCCGTTGCAGCGCCTCCTGGGCCGCGCGCCGGCGAGATCCGCACAAAATCCAGACTCCCGGAGCGGCTCCCTCCAGCACCGCGGCGGGCCCAGGACCAGGCAGCCCGCGGCGCGGCTGGAGAGGCGGGACCGGCTGTCGGGGAGCCCCGGGCGGCCGCCGGGGAGAAGCCGCCGCGCGCCCTCCTCCTCCTCCTCCCTCTCCCTCCTCCCTCCCTCCGCACATGGTCTCCTTTGTCCTGTCGCCGCCGCCGCCGCCTCGCTCTTAGCTCCGCGCGCCGCGGCGGCGGCTCAGGCCGCTCTTCTCCGCCTCGCCCTCCCGCCGGCCGGCCCGGGACGCGCCTTGTTAGCCCCCGCCGCGCCAGCGCGGCCCCGCGCGCCGCAGGAGCGGCGGGGAGACAGTGGCGAGCGCGGGCCGGGCGATCTCGGCGGGCGCGCTCCTCCCGCCGCCCGGGGCCTCGGCCGCGCTGGATGTGTGCGCGCGGCGCCGGCTCTCGGTCGCCCCGAAGCTGTTGCCCGGTTCGGATCTGGTTCGGCGCCTCCGCTCTCGGACTTTGGCGAGGAAGGAGCCCAGAGACTCTTGTGGACAGAGCCGGGTCGAGAGTTGGGCGTTTTCTCTTCGTGTGTTTTG)GTGGTTTCCCCCCTGGTCTTTGACGATCGCCCTTCGGGAGCCCTGCTAAAGAACCAAACCATGAACTTGGGGCTGACCGGACCGTTTAACCCTTTGCAACCAG___GCATCAGATGCCAGCTCTGAAAAACTCTTCAACACTGTTATTGTAAACAAAG|CTTCTGCTCTTTGCTCCTCTGGACACAGACCCCACTCCCTGGGGTCTCCTGGTCCATCCTGGCTATGATGACAGGCAATGACTGAG___GGTCTTACTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCAATTCCT...___...GGCTCAAGCGATCCTCCTGCTTCAGCCTTCTGAGT...___CCCCTCCCTACCCTTTCCAGCCTCTGGTAACCATCCTTCTACTCTCTATCCC . 05CO006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 8 0 148 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 . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTG)CAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO006 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 11 2 0 752 21 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCG)GTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCT MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 05CO007 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 7 0 29 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 duplicates(4),low_entropy(1),mismatches(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCcGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO007 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 8 0 28 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAG)GAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO007 ENSG00000093167.18 ENSG00000198643.7(22752),ENSG00000163689.20(52480) -/- ./- chr3:37174539 chr3:58689526 5'UTR/splice-site intergenic duplication 3 3 0 52 11 high . . . . . ENSG00000093167.18 . ENST00000354379.8 . upstream downstream . ^(GTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAG___)ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGAAAGGAGAGCTACCATCACTAAG|AAACTGCCTGTAGAAATGGCCAGGGAAGATCAAGAAGCAAGTGAGGAAAGAAGGACTAGCAGAAGAGAAG___GACACAGCCCTCCTGCACAAATAAG . 05CO007 ENSG00000144029.12 ENSG00000196604.13 -/- -/+ chr2:95102568 chr2:130110390 intron intron inversion/5'-5' 19 15 0 97 49 medium stop-codon . Ribosomal_protein_S5__N-terminal_domain(100%)| . . ENSG00000144029.12 ENSG00000196604.13 ENST00000272418.7 . upstream upstream duplicates(3) ^(GCGGCTCGGACTCCAGCATGGCGACCGCGGTGCGCGCTGTGGGCTGCCTCCCCGTGCTGTGTAGCGGGACGGCAG___GTCATTTATTGGGGAGGCAGTGTTCCCTAAACACCTTACCAGCAGCTTCCATTTTGGCATGGAAGAGTGTTCTCGGCAATG___GCCATTTGTCATCACTGGGAACCAGAGACACCCATCCCTACGCCAGCTTGAGCCGTGCACTGCAGACACAATGCTGTATTTCTTCTCCCAGTCACCTGATGAGCCAGCAGTATAGACCATATAGTTTCTTCACTAAAT___TGACTGCAGATGAGCTGTGGAAAGGCGCTTTAGCAGAGACTGGTGCTGGAGCAAAAAAAGGAAGAGGCAAAAGAACTAAAAAGAAGAAAAGAAAGGATCTGAACAGGGGTCAGATCATTGGTGAAG___GGCGTTATGGTTTTCTATGGCCCGGACTGAATGTCCCTCTTATGAAAAATGGAGCAGTGCAGACCATTGCCCAAAGAAGCAAGGAAGAGCAGGAGAAGGTGGAGGCAGACATGATCCAGCAGAGAGAAGAGTGGGACCGAAAGAAGAAGATGAAGGTTAAACGGGAGCGAGGATGGAGTGGAAACTCATGGGGAGGCATCAGTCTTGGCCCCCCTGACCCTGGTCCCTGTGGAG___AAACATATGAGGATTTTGATACCAGGATACTTGAG___GTAAGAAACGTTTTCACTATGACTGCGAAAGAGGGAAGAAA)GAAATCGATCCGTGTCTTGGTGGCTGTGGGGAACGGAAAAGGAGCTGCAG___GGTCTTGCTCTGTCACCTGGGATGGAGTGTAGTTGCACCATCAAGGCTTACTGCAGTCTCAACTCTCTGAGCTCAAGTGATCCTGCC|GATTTCTGGCTGATGCAGGGGACTAAAACTCACTGCCACGCGAAAACTACCTGAACCAAACTATGACATCTCACCTGATATGTGAGATGCAACTGTTATAATTATTTTAAACCTCAATTCAGCATTAACTAGCCTTTTAATGTAAACACTTACACATGATGATGACTAGAAACAGCATACTCTCTGGCCGTCTGTCCAGATAGATCTTGAGAAGATACATCAATATTTTGCTCAAGTAGAAGGCTGACTATACTTGCTGATCCACAACATACAGCAAGTATGAG . 05CO007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 3 0 175 62 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 mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACT)CAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO007 ENSG00000093167.18 ENSG00000198643.7 -/- -/- chr3:37174539 chr3:58655601 5'UTR/splice-site 5'UTR/splice-site duplication 0 3 0 52 83 medium . . . . . ENSG00000093167.18 ENSG00000198643.7 ENST00000354379.8 ENST00000358781.7 upstream downstream . ^(GTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAG___ATGTGGGAAGATAAATGAAGGGGTCTA)GATGTAAATGTCAGTGGAAAGGAGAGCTACCATCACTAAG|GTGGAAGCTGACCCCAAGCCACCCTTCACCTGGACAGGATGAGAGTGTCAG___...TTGCCATAGTCACGACATGG?TGTTTATTCG...___CAGCCTCGCCCACCAAGGAGATCC___AGGTTAAAAAGTACAAGTGTGGCCTCATCAAGCCCTGCCCAGCCAACTACTTTGCGTTTAAAATCTGCAGTGGGGCCtCCAACGTCGTtGGCCCTACTATGTGCTcTGAAGACCGC . 05CO007 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 2 0 84 9 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream duplicates(1) ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGT)GTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGG . 05CO007 ENSG00000102359.7 ENSG00000203965.13 +/+ +/+ chrX:100644516 chr1:63551775 intron CDS translocation 2 0 0 42 28 medium . . . . . ENSG00000102359.7 ENSG00000203965.13 ENST00000373004.5 ENST00000371088.5 downstream upstream . ^(ACACTTCCCCCTCTTCTGCAGCAGACGGACTGAGTTCCTCTAATCCCTGTGTTCCTTCTCCCCCATCTTTCTAAAACCCTTCTCTGAGAGAGGAATAACTATAGCTTCAGGGATAATATAGCTTTAAGGAAACTTTTGGCAGATGTGGACGTCGTAACATCTG)GGCAGTGTTAACAGAATCCCGGAGGCCGGGACAGACCAGGAGCCACTCGTTCTAGGAATGTTAAAGTAGAAGGTTTTTTCCAATTGATGAGAGGAGCAGAGAGGAAGGAGAAAGAGGAGGAGAGAGAAAAAGGGCACAAAATACCATAAAACAGG|GAAAATGAGAGTCAAGCAAATCTACAGCTTGTGTGTTTTACCGAACTACGAAATAGAGAA___GTGTTTGGATGGACT(GGTGAACTAGGACCTGGAATTTACTGGTTAATTCCTTCCACAACTGGCTGTAGGCTGAGGAAAAAAATAAAACCAGTAACAGATGAAGCCCAACTTGTATATAGAGATGAAACAGGGGAATTATTCCTTACAAAGGAATTTAA___GTCTACTTTATCAGATATATTTGAAGTAATTGATTTAGATGGAAATGGTCTTCTTAGCCTTGAAGAATATAATTTTTTTGAATTGAGAACAAGTGGTGAGAAATGTGATGAAGATGCTTGGGCTGTCTGCAGAG___AGAATTTTGATACAAAGAGGAATGAACTAACAAGACAAGGATTTATGGATTTGAATCTAATGGAAGCTAATGATCGAGAAGGAGATCCTTGTGACCTTTGGGTAACTCTACACTCTATGGGCTACAATAAAGCTCTGGAGTTGACAGAG___GCATGTCCATTTGTCATTGATATCTATGCAGAAAAATGCAAGCCAAAAATTAAAGCTGTCCATATGGAGGCATGTAGTGGACAACTTGAGAAGGCCATTTGTAAATCTGTTCTTAGCAACGGTGATGCCAAAGTAATGGATGGCTATGAAAATATAATCGTGCATACTTACAGTTGTGACACCTGGATAACGTCAGTTATTGAAAACAAG___TCAGATGAGAAAGTGATTATTCACATCAGCAATGAGCTAAGTAAAAACTGCATAAACAACAGAGGACTCAACATATTTGCAGTAGAAGTGGGACCCAAATCTACAATG___GTTTGTCAACATGTAATGCCTTTGAATGAACGACAAGAATGGATATATTATTGTATATATTCTCTTATTTCTTAAATAATTATACTTAGAACTTACCAAACTAAGAATTATTTCAGATTTAGTCTGTTATTTATTAAACAACTAAATGCTACTTAACTGATGTACCTAAATAATAATCTATTCAATTTATATGCATTTTCATTTTATGTCCATGGTATGTACTTTATTATTAAAATATAAATAATGCTTTCA)$ . 05CO011 ENSG00000197321.15 ENSG00000235810.1(327896),ENSG00000223841.1(113974) -/- ./+ chr10:29686553 chr10:57841321 5'UTR/splice-site intergenic inversion 17 36 0 116 95 high . . . . . ENSG00000197321.15 . ENST00000674475.1 . upstream upstream duplicates(3) ^(CCGGGCGCCTGCCCGCTGGCCGGGACTCGCGCGCCGGCTCTCGGGGACGGAGGCGCCCGGTCCGCCCTGACGAGCTCGCCACTGGCTCTGCTCCGGCGGCGACGGCGACAGTGGCCCTGGCCGACTTTCCCGGGGCCCACACCTCCTCGAGAGCCAGCTTGGGCAGGGGACGGTGCCGCACCACCAAGGCCCCGCGCTAGTGTGCACCC)CCGGCCCGGGCCCGGCAGGTGGGCGAGGAGGGCGGGCGCAGTCGGGCTCTGCAGGAGCGCGCGGAG___ATTCTGGCTACATTGGAGATTGGTTGCTTTCTAAAACTGAAGGAGAAGCCCATGAAGAGATGGTGGATTCTCACTGAGTTTTGACTAGCGGAAGAAAAG|GATAGAGGCCATCAAGCTACAGATGGTCTTACAAATGGAACCCCAAATGAGCTCAACTAACAACTTCTACCGAGGACCCCTGGACTGACCTGCTGGCCCTTTCACTGGCCTAAAGAGTTCCCCTCTGGAGAACACTACAACTGCAAGGCCCCTTCTTTGCCCTATCCAGCAGGAAGTAGCTAGAATGGTCATCACCCAAATTCCCAACAGCCATTGGGGTGTCCTGTTTA . 05CO011 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 32 0 49 212 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(6),mismappers(1),mismatches(1) CGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGgTGTCCAACAGAACG(ACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO011 ENSG00000197321.15 ENSG00000235810.1(281017),ENSG00000223841.1(160853) -/- ./+ chr10:29686553 chr10:57794442 5'UTR/splice-site intergenic inversion 11 20 0 116 39 high . . . . . ENSG00000197321.15 . ENST00000674475.1 . upstream upstream duplicates(2) ^(CCGGGCGCCTGCCCGCTGGCCGGGACTCGCGCGCCGGCTCTCGGGGACGGAGGCGCCCGGTCCGCCCTGACGAGCTCGCCACTGGCTCTGCTCCGGCGGCGACGGCGACAGTGGCCCTGGCCGACTTTCCCGGGGCCCACACCTCCTCGAGAGCCAGCTTGGGCAGGGGACGGTGCCGCACCACCAAGGCCCCGCGCTAGTGTGCACCCCCGGCCCGGGCCCGGCAGGTGGGCGAGGAGGGCGGGCGCAGTCGGGCTCTGCAGGAGCGCGCGGAG___)ATTCTGGCTACATTGGAGATTGGTTGCTTTCTAAAACTGAAGGAGAAGCCCATGAAGAGATGGTGGATTCTCACTGAGTTTTGACTAGCGGAAGAAAAG|GACACAACTGGAAAAACTGATTATTTTACAAAGGCTTTGACTGGAAGGATGCATTTCCCTTTAAGGAATCAAGCTGGATGTGCAGAGCAGATAAAAGCTCCATGGGGATAACTGGCCTCATACCTTGCCTACACAGTCTCTGCACAGGGTTTCTAACCTGTGGTCAGCAAAGAATTTCACTTCCTAACAGGTCCAGGAGCTCCAAGTTTATCTTGGAACACTAAGAGAAAAG . 05CO011 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 10 0 120 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 . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCA)AGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO011 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 4 0 20 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),mismatches(1) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTG?CCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCC(AAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO011 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 11 0 28 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAA(AGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO011 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 8 4 1 85 19 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream homopolymer(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAAT)GGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTAC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 05CO011 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 3 10 0 15 31 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream . GGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCA(TCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 05CO011 ENSG00000287542.1 ENSG00000184178.16 +/+ -/- chr4:88606049 chr4:52920870 CDS/splice-site CDS/splice-site inversion 4 7 0 23 35 high in-frame . . . . ENSG00000287542.1 ENSG00000184178.16 ENST00000512194.2 ENST00000401642.8 downstream downstream . ^(AGGAAACGCTGCCGAGGAGTAGGCGGGGCGGGCGCTTTGGTTCCGAGGGTGCTTCTGCTCCGACTGCTTTTCCCACGGGCGTCATCTATAGTCCGGAGGACAGCCCCAGGGCAGAGGCCTCTG___AACTGCAAGGTGTGGAATATTTCTGGCTTCTAGTCCAATGCCAAGTGTGTGACCTGTG___AGTTAATTCTGCATTTTAGTTTTGGCCCTACATTTATTTAAAGCCTGAATTTGGGGAGTATCTGCAAAGCACTGAAGGTTTTGGACATTGTCTTTTCCTGCTGTTGAAAGAGACCCTCTTCATATATACAACATTCAG___GCTACATGATTCCCTGAAAGATAAGAACAATGTTATGTTGGGGATATTGGTCTCTGGGCCAAC)CTGGTATCAGCACCAACCTGCAGGGAATTGTGGCTGAGCCCCAGGTGTGTGGGTTCATATCTGACAGAAGTGTCAAGGAAGTGGCCTGTGGGGGAAACCACTCTGTGTTCCTGCTGGAAGATGGGGAAGTTTACACATGTGGTTTGAACACCAAGGGGCAACTGGGCCATGAGAGGGAAGGAAACAAGCCAG|ACTGGGACTCTTCAATTAATCTGACATTTCACAAATCCAAAATTGCCGTGGATGAACTCTTTACTTCACTTCGGGATATTGCTGGAGCTCGGAGTCTCCTGAAACAGTTTAAGTCTGTATATGTTCCTGGAAATCATACCCACCAG___GCATCTTATAAGCCATTGTTGAAGCAAGTTGTGGAGGAAATATTTCATCCCGAG(AGGCCAGATTCCGTTGATATTGAACACATGTCTTCAGGCCTCACTGATCTCCTTAAAACTGGATTTAGCATGTTCATGAAG___GTGAGCCGGCCTCATCCTAGTGACTACCCCCTCCTGATCCTCTTTGTGGTAGGTGGGGTCACAGTCTCTGAAGTGAAAATGGTCAAAGATCTTGTGGCATCGTTGAAGCCAGGAACCCAG___GTAATCGTGCTGTCCACACGACTCCTGAAGCCACTTAACATTCCTGAGCTGTTATTTGCAACTGACCGACTGCATCCAGACCTTGGCTTCTGAGCATCCGCTAAGAAGATAAGACCTACTCAAGCTGGAAATGCCGATGCAATTTTCTGCCACCACTCCAAATACTCCTCCACAACCAGCGTCCCTGTCACTAATTGCGAGAATGATGGAATTCTGCCTGAAGGGTCTTGATACCTACTCAGTGAGGTACTTTGCTTGGATTGCTGTGATTCTTAAAAAAAAAAAAAAAAAGTTTTTTTATTTTCCTGAAGGCGACAGTCTGTCTTTTGGCGAGTCCAATTAGTGATCGTTTCCATTTATCCTTAACCCTCTGTTTGTGATCTTCCTGATTCCACCTACAAGTTCATTAGTTCTAAATAAAAGCCTGTTGGCAAGTGTTGGTAGATTACAACTCTTTTTATTTGAAGTTGCTCGAGAAGTTAGACATGCTTTAGAATTATGAGTGTGGGGAAAATTTGATGTTCCTTAGGATTATATAACTGAGGAGGGAACATTGCAAATAGGGTCTGAGGCTTTGTTTCTCTCTTGCTCTGAAACATTTCTGAAAAGGCAAGGAAGGGAGGGGTAGTGTCTGGGGCAGTGCTGGTAGCCTGCATGTGTTGTAAATCATCCTGCCATAACAAAGGACTGCATTGTTCTAGCTGGCCCACTGGGCAGGTCTGCCAGGCTACTTGGAACTGTAGTGGGAAGGTGGTTGATTGGAGGGTTATCTGTATATAAAAGGTTTTCTCCCCTCCAAAGAAAGACTCCAGTACAAGATACCTGGTCCCAGGGAGTCTAAATTGTAACAGCAACCCCTGTGGACTTTGTGGGTATGAGTTTTGATTGAAATATAAAGCTTTCTTTTCTGTAAGTTTAAGTTTTCCATCTGACCATAGCAGAAAAACCTAGACCCACCTAGTGAAACTTTGTAAGAACTCCAGGGCAAAAACGAACCACTTGCAACCCACATGTTTGTAGGTGTATGGTCGATGGAAGTTTCTGGCATCCATGTTGGTAATAAAGAGATAAAACTGAAAA)$ MLCWGYWSLGQPGISTNLQGIVAEPQVCGFISDRSVKEVACGGNHSVFLLEDGEVYTCGLNTKGQLGHEREGNKP|dWDSSINLTFHKSKIAVDELFTSLRDIAGARSLLKQFKSVYVPGNHTHQASYKPLLKQVVEEIFHPERPDSVDIEHMSSGLTDLLKTGFSMFMKVSRPHPSDYPLLILFVVGGVTVSEVKMVKDLVASLKPGTQVIVLSTRLLKPLNIPELLFATDRLHPDLGF* 05CO011 ENSG00000138641.18 ENSG00000184178.16 +/+ -/- chr4:88606049 chr4:52920870 CDS/splice-site CDS/splice-site inversion 4 7 0 23 35 high in-frame . Regulator_of_chromosome_condensation_(RCC1)_repeat(100%)| . . ENSG00000138641.18 ENSG00000184178.16 ENST00000402738.6 ENST00000401642.8 downstream downstream . ^(CTTATTATTGTGACGCCGAAAACGGAGAAACCCCGGGTCCGGCGAGAGGGGCTGTGACAGTCGGAGTCCCAAGCTGCGGTTCGGCTGCTGCCGAG___AACTGCAAGGTGTGGAATATTTCTGGCTTCTAGTCCAATGCCAAGTGTGTGACCTGTG___GCTACATGATTCCCTGAAAGATAAGAACAATGTTATGTTGGGGATATTGGTCTCTGGGCCAAC)CTGGTATCAGCACCAACCTGCAGGGAATTGTGGCTGAGCCCCAGGTGTGTGGGTTCATATCTGACAGAAGTGTCAAGGAAGTGGCCTGTGGGGGAAACCACTCTGTGTTCCTGCTGGAAGATGGGGAAGTTTACACATGTGGTTTGAACACCAAGGGGCAACTGGGCCATGAGAGGGAAGGAAACAAGCCAG|ACTGGGACTCTTCAATTAATCTGACATTTCACAAATCCAAAATTGCCGTGGATGAACTCTTTACTTCACTTCGGGATATTGCTGGAGCTCGGAGTCTCCTGAAACAGTTTAAGTCTGTATATGTTCCTGGAAATCATACCCACCAG___GCATCTTATAAGCCATTGTTGAAGCAAGTTGTGGAGGAAATATTTCATCCCGAG(AGGCCAGATTCCGTTGATATTGAACACATGTCTTCAGGCCTCACTGATCTCCTTAAAACTGGATTTAGCATGTTCATGAAG___GTGAGCCGGCCTCATCCTAGTGACTACCCCCTCCTGATCCTCTTTGTGGTAGGTGGGGTCACAGTCTCTGAAGTGAAAATGGTCAAAGATCTTGTGGCATCGTTGAAGCCAGGAACCCAG___GTAATCGTGCTGTCCACACGACTCCTGAAGCCACTTAACATTCCTGAGCTGTTATTTGCAACTGACCGACTGCATCCAGACCTTGGCTTCTGAGCATCCGCTAAGAAGATAAGACCTACTCAAGCTGGAAATGCCGATGCAATTTTCTGCCACCACTCCAAATACTCCTCCACAACCAGCGTCCCTGTCACTAATTGCGAGAATGATGGAATTCTGCCTGAAGGGTCTTGATACCTACTCAGTGAGGTACTTTGCTTGGATTGCTGTGATTCTTAAAAAAAAAAAAAAAAAGTTTTTTTATTTTCCTGAAGGCGACAGTCTGTCTTTTGGCGAGTCCAATTAGTGATCGTTTCCATTTATCCTTAACCCTCTGTTTGTGATCTTCCTGATTCCACCTACAAGTTCATTAGTTCTAAATAAAAGCCTGTTGGCAAGTGTTGGTAGATTACAACTCTTTTTATTTGAAGTTGCTCGAGAAGTTAGACATGCTTTAGAATTATGAGTGTGGGGAAAATTTGATGTTCCTTAGGATTATATAACTGAGGAGGGAACATTGCAAATAGGGTCTGAGGCTTTGTTTCTCTCTTGCTCTGAAACATTTCTGAAAAGGCAAGGAAGGGAGGGGTAGTGTCTGGGGCAGTGCTGGTAGCCTGCATGTGTTGTAAATCATCCTGCCATAACAAAGGACTGCATTGTTCTAGCTGGCCCACTGGGCAGGTCTGCCAGGCTACTTGGAACTGTAGTGGGAAGGTGGTTGATTGGAGGGTTATCTGTATATAAAAGGTTTTCTCCCCTCCAAAGAAAGACTCCAGTACAAGATACCTGGTCCCAGGGAGTCTAAATTGTAACAGCAACCCCTGTGGACTTTGTGGGTATGAGTTTTGATTGAAATATAAAGCTTTCTTTTCTGTAAGTTTAAGTTTTCCATCTGACCATAGCAGAAAAACCTAGACCCACCTAGTGAAACTTTGTAAGAACTCCAGGGCAAAAACGAACCACTTGCAACCCACATGTTTGTAGGTGTATGGTCGATGGAAGTTTCTGGCATCCATGTTGGTAATAAAGAGATAAAACTGAAAA)$ MLCWGYWSLGQPGISTNLQGIVAEPQVCGFISDRSVKEVACGGNHSVFLLEDGEVYTCGLNTKGQLGHEREGNKP|dWDSSINLTFHKSKIAVDELFTSLRDIAGARSLLKQFKSVYVPGNHTHQASYKPLLKQVVEEIFHPERPDSVDIEHMSSGLTDLLKTGFSMFMKVSRPHPSDYPLLILFVVGGVTVSEVKMVKDLVASLKPGTQVIVLSTRLLKPLNIPELLFATDRLHPDLGF* 05CO011 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 5 4 1 20 13 medium . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismappers(1),mismatches(1) CTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCA(TGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO011 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 2 1 0 188 33 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCT)GGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGAC . 05CO014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 25 0 58 54 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(1),mismatches(2) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGA(CCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO014 ENSG00000233247.3(10776),ENSG00000101958.14(273594) ENSG00000101958.14 ./+ +/+ chrX:14255704 chrX:14529948 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 40 52 high . . |Neurotransmitter-gated_ion-channel_ligand_binding_domain(100%),Neurotransmitter-gated_ion-channel_transmembrane_region(100%) . . . ENSG00000101958.14 . ENST00000218075.9 downstream upstream duplicates(1),mismappers(1) AGAGGATTCACTCTCATCCACCCTTTGTGCCACTTGGATGTCCTTGCATTTTACAACAAGTTTTGGGAACAGCTCCTCTACAAGGCTGGTTGGTCTCCTTTCCTGCAAAAACTTTTAAGATGAAG___...TGGTCATGTGAGCATAGACCTGAATTGTAG___CAGAGAGAAGAGTTTTCATTTGGTATTGTAAGGAAGAGAAAGAAAATTCACTAAAATTAATAG|GAAACTAGGTTCCTGCCAAATTTTGAATCTGGACAATAAACAGACACTTTGTCCTAGCATCTTTCTGGAATCATTTCGGGATATTTTCCACAAGCAACACAGAAACAGGAATGAACCGGCAGCTAGTGAACATTTTGACAGCCTTGTTTGCATTTTTCTTAGAGACAAACCACTTCAG___GACGGCTTTCTGCAAAGACCATGACTCCAGGTCTGGAAAACAACCTTCAC(AGACCCTATCTCCTTCAGATTTCTTGGACAAGTTAATGGGAAGGACATCAGGATATGATGCAAGAATCAGGCCAAATTTTAAAG___GTCCTCCAGTAAACGTTACTTGCAATATTTTTATCAACAGTTTTGGATCAGTCACAGAAACGACCATG___GACTACCGAGTGAATATTTTTCTGAGACAACAGTGGAATGATTCACGGCTGGCGTACAGTGAGTACCCAGATGACTCCCTGGACTTGGACCCATCCATGCTAGACTCCATTTGGAAACCAGATTTGTTCTTTGCCAATGAGAAGGGTGCCAACTTCCACGATGTCACCACTGACAACAAATTGCTACGGATTTCGAAAAATGGCAAAGTGCTCTACAGTATCAG___ACTCACCTTGACCTTATCCTGTCCCATGGACTTGAAGAACTTTCCGATGGATGTCCAGACCTGTACAATGCAGCTGGAGAGTT___TTGGGTACACGATGAATGACCTGATATTTGAGTGGTTAAGTGATGGTCCAGTGCAAGTTGCTGAAGGATTGACCCTGCCCCAGTTTATTTTGAAAGAAGAGAAGGAACTTGGCTACTGTACAAAGCACTACAACACTG___GAAAGTTTACCTGCATTGAGGTCAAGTTTCATCTGGAACGCCAAATGGGATATTATTTGATCCAGATGTACATCCCAAGCCTGCTTATAGTAATTTTGTCCTGGGTTTCCTTTTGGATAAATATGGATGCAGCCCCTGCCAGGGTCGCACTGGGCATCACCACAGTCTTAACGATGACCACCCAGAGTTCAGGCTCCAGGGCATCTCTGCCAAAG___GTCTCCTATGTAAAAGCGATTGACATCTGGATGGCGGTGTGCCTTCTGTTTGTGTTTGCTGCCTTACTGGAATACGCAGCGGTGAACTTCGTCTCCAGGCAACACAAGGAGTTCCTGCGCCTCCGAAGAAGACAGAAGAGGCAGAATAAG___GAAGAAGACGTTACTCGTGAAAGTCGTTTTAATTTTAGCGGTTATGGGATGGGTCACTGCCTCCAAGTGAAAGATGGAACAGCTGTCAAGGCCACACCTGCCAACCCACTCCCACAACCGCCAAAAGATGGAGATGCTATCAAGAAGAAGTTTGTGGACCGGGCAAAAAGGATTGACACGATATCTCGAGCTGCCTTCCCATTGGCCTTCCTCATTTTCAACATCTTTTACTGGATCACATACAAGATCATTCGGCATGAAGATGTCCACAAGAAATAGATGTGCCCTACAGACCCTGGGACCTTCTTGCCTCAGTGTTGTGCTTGTAAATACACAGTGAAATTGTCTTTATATCACTTTGACAGAGGAGAAGATTGAGGGAGGGGGGAGGGAGGGTCATGGGGGTGGGTTTCCTGGCACCTACATGAAAAAAAAGACAAGTTATATGGGTGATGAAGAAAACTGCACAAAATTAAGGGGTTGCAGAATCACGGGAGCATAATAATTCCCTTCCATAATCTTTAGCATTGTTCTTTCAGTCAGACATGATATGCGCAACATTCAGACATGATATGCGCATCATTCAGACATGATATGCGGGGTCAAGTTCTTAAGGGCTGTTTGCCTTTTGGTCCTTTTGGTTTGGTTTGGCTTTGACTAATTCTGGTACTGAAAAGTTAGCTATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACTTCAAAAATGCTTAACCATCTGACCATAGTGACTAGCCTATAGTGAGTCGAGGACCAAACTTTTTCAGGAAAATGCTGCCTCGTTTTTAAAACAAGCCTCCTAAGCTATGTTCTTTACAATGTCTGTAATTAGTGTTTCACTTGAGAAAGCCTTTTGTGGGTCGTAAATTATTTCTACTTATCCAGTAAATAACAATGACAAAATAAACACCAATGACAGAAAAATTTCTACTTTACTGTCCATATAGGTGTGCATTTTAATATTTTTCTTTCCAAGATAAAATTTTGAAACTTAAATTGTGTATTGTGTAATTAATTTGATAGTGTACCCTCTTAATAAATGCCCACTTTATTTTATATCCAAGTTAGTGCATTATATATATATTTTTGCTTTGGCTATATTTACACGTGACTTTAATCGCCCAACTGTGACTAGTCATTGCAGCTACTCAGCTACAGTATTTATGGAGATGGTGTGTCCTGAACAGTGTAGCTCAGGTCAGCTTGAACTTTCCATTTCTGCTCTCATTGTAGGTGTAACTACTAGTCCTAATGTCAACTGACCCATGATTTCTACTGTCAGTCAATATAAGTGAACATTGTTTTAAATATCCTTAACTAACTTAAAGAATTTTAAAATTGTACTGTGATTTTCATAACCCGTTGCCTTTTTGGTACCAGAGCTACGTGGTTTGAATTCTGGCTACATGTTTTAAGTAAGAAAAAAAAAGACGTATTTTTGCTTACTCAGATAAAAGACAACCTGTAAAAATATAATAATTAAATTTTACATGTGCTGTACAAGGGGTTATTTTAAAAAGCATTTGTTCAATTTCAATAAAGCTAAGTGTGCCGCAAA)$ . 05CO014 ENSG00000119820.11 ENSG00000170242.19 +/+ +/+ chr2:32292348 chr11:11880177 CDS/splice-site CDS/splice-site translocation 12 2 0 156 49 high in-frame . |Ubiquitin_carboxyl-terminal_hydrolase(100%) . . ENSG00000119820.11 ENSG00000170242.19 ENST00000238831.9 ENST00000527733.7 downstream upstream duplicates(1),mismappers(1),mismatches(1) ^(GTCACTGTTATGGTCCTGTCAGGGTGCCGGCGTCGTGGTGCTTGGGTGGTCGCCACCAAGAAGACTTTGGTGGGGTAGTCTCGGGGCAGCTCAGCGGCCCGCTGTGCCCGTTTCTGGCCTCGCTCGCAGCTTGCACGTCGAGACTCGTAGGCCGCACCGTAGGGCGAGCGTGCGGGTCGCCGCCGCGGCCGCCTCGGGGTCTGGGCCCAGCCGCAGCCTCTTCTACCGCGGCCGGTTGGGAGTCGCCGCGAGATGCAGCCTCCGGGCCCGCCCCCGGCCTATGCCCCCACTAACGGGGACTTCACCTTTGTCTCCTCAGCAGACGCGGAAG___ATCTCAGTGGTTCAATAGCATCCCCAGATGTCAAATTAAA)TCTTGGTGGAGATTTTATCAAAGAATCTACAGCTACTACATTTCTGAGACAAAGAGGTTATGGCTGGCTTCTGGAAGTTGAAGATGATGATCCTGAAGATAACAAGCCACTCTT___GGAAGAATTGGACATTGATCTAAAGGATATTTACTACAAAATCCGATGTGTTTTGATGCCAATGCCATCACTTGGTTTTAATAGACAAGTGGTGAGAGACAATCCTGACTTTTGGGGTCCTCTGGCTGTTGTTCTTTTCTTTTCCATGATATCATTATATGGACAGTTTAGG|ATAGAAAATGCTGCTGAAGAACCTAGAGTCTTATGTATTATACAAGATACTACTAATTCAAAGACAGTGAATGAACGGATCACTTTAAATTTACCAGCATCTACTCCAGTCAGAAAGCTCTTTGAAGATGTGGCCAACAAAGTAGGCTACATAAATGGAACCTTTGACTTGGTGTGGGGAAATGGAATCAATACTGCTGATATG___GCAC(CACTGGATCATACCAGTGACAAGTCACTTCTCGACGCTAATTTTGAGCCAGGAAAGAAGAACTTTCTGCATTTGACAGATAAAGATGGTGAACAACCTCAAATACTGCTG___GAGGATTCCAGTGCTGGGGAAGACAGTGTTCATGACAGGTTTATAGGTCCGCTTCCAAGAGAAGGTTCTGGGGGTTCTACCAGTGATTATGTCAGCCAAAGCTACTCCTACTCATCTATTTTGAATAAATCAGAAACTG___GATATGTGGGACTAGTAAACCAAGCAATGACTTGCTATTTGAATAGCCTTTTGCAAACACTTTTTATGACTCCTGAATTTAGGAATGCATTATATAA___GTGGGAATTTGAAGAATCTGAAGAAGATCCAGTGACAAGTATTCCATACCAACTTCAAAGGCTTTTTGTTTTGTTACAAACCAGCAAAAAGAGAGCAATTGAAACCACAGATGTTACAAGGAGCTTTGGATGGGATAGTAGTGAGG___CTTGGCAGCAGCATGATGTACAAGAACTATGCAGAGTCATGTTTGATGCTTTGGAACAGAAATGGAAGCAAACAGAACAG___GCTGATCTTATAAATGAGCTATATCAAGGCAAGCTGAAGGACTACGTGAGATGTCTGGAATGTGGTTATGAGGGCTGGCGAATCGACACATATCTTGATATTCCATTGGTCATCCGACCTTATGGGTCCAGCCAAGCATTTGCTAGTGTG___GAAGAAGCATTGCATGCATTTATTCAGCCAGAGATTCTGGATGGCCCAAATCAGTATTTTTGTGAACGTTGTAAGAAGAAGTGTGATGCACGGAAG___GGCCTTCGGTTTTTGCATTTTCCTTATCTGCTGACCTTACAGCTGAAAAGATTCGATTTTGATTATACAACCATGCATAGGATTAAACTGAATGATCGAATGACATTTCCCGAGGAACTAGATATGAGTACTTTTATTGATGTTGAAGATGAG___AAATCTCCTCAGACTGAAAGTTGCACTGACAGTGGAGCAGAAAATGAAGGTAGTTGTCACAGTGATCAGATGAGCAACGATTTCTCCAATGATGATGGTGTTGATGAAGGAATCTGTCTTGAAACCAATAGTGGAACTGAAAAGATCTCAAAATCTGGACTTGAAAAG___AATTCCTTGATCTATGAACTTTTCTCTGTTATGGTTCATTCTGGGAGCGCTGCTGGTGGTCATTATTATGCATGTATAAAGTCATTCAGTGATGAGCAGTGGTACAGCTTCAATGATCAACATGTCAGCAGG___ATAACACAAGAGGACATTAAGAAAACACATGGTGGATCTTCAGGAAGCAGAGGATATTATTCTAGTGCTTTCGCAAG___TTCCACAAATGCATATATGCTGATCTATAGACTGAAGGATCCAGCCAGAAATGCAA___AATTTCTAGAAGTGGATGAATACCCAGAACATATTAAAAACTTGGTGCAGAAAGAGAGAGAGTTGGAAGAACAAGAAAAGAGACAACGAGAAATTGAGCGCAATACATGCAAG___ATAAAATTATTCTGTTTGCATCCTACAAAACAAGTAATGATGGAAAATAAATTGGAGGTTCATAAGGATAAGACATTAAAGGAAGCAGTAGAAATGGCTTATAAG___ATGATGGATTTAGAAGAGGTAATACCCCTGGATTGCTGTCGCCTTGTTAAATATGATGAGTTTCATGATTATCTAGAACGGTCATATGAAGGAGAAGAAGATACACCAATGGGGCTTCTACTAGGTGGCGTCAAGTCAACATATATGTTTGATCTGCTGTTGGAGACGAGAAAGCCTGATCAGGTTTTCCAATCTTATAAACCTGGAG___AAGTGATGGTGAAAGTTCATGTTGTTGATCTAAAGGCAGAATCTGTAGCTGCTCCTATAACTGTTCGTGCTTACTTAAATCAGACAGTTACAGAATTCAAACAACTGATTTCAAAG___GCCATCCATTTACCTGCTGAAACAATGAGAATAGTGCTGGAACGCTGCTACAATGATTTGCGTCTTCTCAGTGTCTCCAGTAAAACCCTGAAAGCTGAAGGATTTTTTAGAAGTAACAAG___GTGTTTGTTGAAAGCTCCGAGACTTTGGATTACCAGATGGCCTTTGCAGACTCTCATTTATGGAAACTCCTGGATCGGCATGCAAATACAATCAGATTATTTGTTTTGCTACCTGAACAATCCCCAGTATCTTATTCCAAAAGGACAGCATACCAGAAAGCTGGAGGCGATTCTGGTAATGTGGATGATGACTGTGAAAGAGTCAAAGGACCTGTAGGAAGCCTAAAGTCTGTGGAAGCTATTCTAGAAGAAAGCACTGAAAAACTCAAAAGCTTGTCACTGCAGCAACAGCAGGATGGAGATAATGGGGACAGCAGCAAAAGTACTGAGACAAGTGACTTTGAAAACATCGAATCACCTCTCAATGAGAGGGACTCTTCAGCATCAGTGGATAATAGAGAACTTGAACAGCATATTCAGACTTCTGATCCAGAAAATTTTCAGTCTGAAGAACGATCAGACTCAGATGTGAATAATGACAGGAGTACAAGTTCAGTGGACAGTGATATTCTTAGCTCCAGTCATAGCAGTGATACTTTGTGCAATGCAGACAATGCTCAGATCCCTTTGGCTAATGGACTTGACTCTCACAGTATCACAAGTAGTAGAAGAACGAAAGCAAATGAAGGGAAAAAAGAAACATGGGATACAGCAGAAGAAGACTCTGGAACTGATAGTGAATATGATGAGAGTGGCAAGAGTAGGGGAGAAATGCAGTACATGTATTTCAAAGCTGAACCTTATGCTGCAGATGAAGGTTCTGGGGAAGGACATAAAT___GGTTGATGGTGCATGTTGATAAAAGAATTACTCTGGCAGCTTTCAAACAACATTTAGAGCCCTTTGTTGGAGTTTTGTCCTCTCACTTCAAGGTCTTTCGAGTGTATGCCAGCAATCAAGAGTTTGAGAGCGTCCGGCTGAATGAGACACTTTCATCATTTTCTGATGACAATAAG___ATTACAATTAGACTGGGGAGAGCACTTAAAAAAGGAGAATACAGAGTTAAAGTATACCAGCTTTTGGTCAATGAACAAGAG___CCATGCAAGTTTCTGCTAGATGCTGTGTTTGCTAAAGGAATGACTGTACGGCAATCAAAAGAGGAATTAATTCCTCAGCTCAGGGAGCAATGTGGTTTAGAGCTCAGTATTGACAG___GTTTCGTCTAAGGAAAAAAACATGGAAGAATCCTGGCACTGTCTTTTTGGATTATCATATTTATGAAGAAGATATTAATATTTCCAGCAACTGGGAGGTTTTCCTTGAAGTTCTTGATG___GGGTAGAGAAGATGAAGTCCATGTCACAGCTTGCAGTTTTGTCAAGACGGTGGAAGCCTTCAGAGATGAAGTTGGATCCCTTCCAGGAGGTTGTATTGGAAAGCAGTAGTGTGGACGAATTGCGAGAGAAG___CTTAGTGAAATCAGTGGGATTCCTTTGGATGATATTGAATTTGCTAAG___GGTAGAGGAACATTTCCCTGTGATATTTCTGTCCTTGATATTCATCAGGATTTAGACTGGAATCCTAAAGTTTCTACCCTGAATGTCTGGCCTCTTTATATCTGTGATGATGGTGCGGTCATATTTTATAG___GGATAAAACAGAAGAATTAATGGAATTGACAGATGAGCAAAGAAATGAACTGATGAAAAAAGAAAGCAGTCGACTCCAGAAGACTGGACATCGTGTAACATACTCACCTCGTAAAGAGAAAGCACTAAAAATATATCTGGATGGAGCACCAAATAAAGATCTGACTCAAGACTGACTCTGATAGTGTAGCATTTTCCCTGGGGGAGTTTTGGTTTTAATTAGATGGTTCACTACCACTGGGTAGTGCCATTTTGGCCGGACATGGTTGGGGTAACCCAGTGACACCAGCACTGATTGGACTGCCCTACACCAATCAGAAGCTCAGTGCCCAATGGGCCACTGTTTTGACTCGGAATCATGTTGTGCACTATAGTCAAATGTACTGTAAAGTGAAAAGGGATGTGCAAAAAAATAAAAAAAAACAACAAAAAAAGCTAACCTTCTATTAGAAAAGGGGACAGGGGAATGAGTAAACTTCTTTTATTGCGGACAAATGTGCACATAGCCGCTAGTAAAACTAGCCTCAAACAGGATGCTCATAGCTTAATAATAAAAGCTGTGCAAAGGCCATGAATGAATGAATTTTCTGTTTATTTCACTGATGCACACATTACCTCATTGACAATTCAGAAGTAAATCCAACGTGTGTTGACTCTTGGAAAGCAGCAAAAACAGGAGCTGAAGAAAAGAAATTCTTGGAACCAGCCGTAACCCAGTAAGGAATTGTGAAGTTGTGTTTTTATTTTGTTTCATTTTTTGCAGAGTATTAAGAACATTATTCTGGAACATCAGAACGTTTCCCTTAGACCGATCCCAGCAGGTGGCAGCTCAGATTGCTGCAGTGTTGTAATTATAACTGATTGTACTTAAGTTATGGATGTAGAGAATATGTTTCATTCATTTATTCAGCATGTAAATAAAATTGATCCTGTTGAGTTATCATAATTGCAGTTCAACTATCTGCCATGATTATTCTTTTCACGTATCATTCATTCTGTACATTTGTGTACATTGAGAAGTATAGCAATCTATGTAAATGTAATCCTCAGTGAGGTTCCTCAGTGCTAGGTCCCATAGGATTGTCGTTGCCCTTGTTAATGAGGTTTCTCTGTTCAGCGGCTTCAATTTTTTTCTCTTTGTACATCTAGTTTTGAAGATTTACTTCAAGTTTGAATCTTCTAGAATGCTTGTAAGTCCAGTTTTAATTTTTAGAGTCAATTTGTAGTTACATGTAGTTTAACTTTTGGGAAACGTCTTAACATTGTTCTGAATAAACTTGCTAATGAGGTCAGGTCATGGTACAGACTGATGCAGTCAACATGATTTCATTGCAGAGTTTATTAGTATCAGCAAGTTTTTGCTTTGCTAAATAAAAGTACTCAATGAACACAATTCTACATAAATTTTGACATACCATCTAATTTATAAAAATCAATAAAAAAGGTTTTGGTAAAACTTTTTCATGCCAGATGCTGTTTACAACAATGAACATGCCAATAAAACATTTGTTCATTCTGTTGTGTTATTTTAGTCATTAAACTTCTGTGGATGAAGAATCTGGGTTAAGAATAGATTTGTCATCTTTAAATATGACATTTTGTAATGTGTATTGGATATCTCATTTCTATGATAAAGGTATATTTACAGTAAAGTTCTCATAAGAGAAATGAAAAGCTGTGTTAATATCTAACTTTGGGGAACCCTGTCAGTATTTCAGATCCGATTTTTACCCTTTTTTTCTTATAAGAAAGATAAAATTAGAAAATACTGTTAGCAAATGTGGCTCTGCCATTTGAATATAATCACCGAGAATTCCATGTCTTAAAAGTCTCCTGGAATCCACAATGAAAAAAAAAATCTTTTCTAAGGTATTTTTCTGGCTAATTTTTATTTGAAGAAAGCTATAGCATTTAGCGAAATTTGACTGAAGTAATGTTCTGAGTTTGCATTAGTGGGATTGGTGATGTTCTCAGAAGAAAATTGGAAACACTTGTGATGAATTGTCTTTCAGATCACTTAGATTTTCTGATGTAAGAGGACAGCTGTTTGGTTCTGATACAGGCCTGCTTACTTGGGATGTAGGGTTAGTAAATGGGGTTTCTGCTTTAAAGGACTGACTTGCTATCACACAAAAGAGGCAGACTTGTAAACACAATGGGCTTTGGAGTTTGGTCTGATTGGGTTTGGTTTAGTATTCCTATGAGCGTAAATGGTAAAATTCTTCTGATACCCACTCTTTAGACTGTGCCTTCTGCTCTGTTCTTTGTTTTATGTTTAACTGCTGTTTCTAATTGCAGGTGTATTACAGATACAAATAAGAGTAAAGAAAATATATTTCATTATAGAAAAGAAAAAATTAAAAGCTTCTTGCTTTTCAGTGCCTGATAGAGTGAAAACACAAAGTTGCACTTTAATAATTTCAATAAAAGCTAATCTGTGTCAGCCTCCCTCTGCTTCAGAGAGTCAGGTGAGCATCCATAACCTAACAGGCAGAGCCCTAGCGATGTGGATCAAGTTTCCTGAGCCCGGGGGCGGTGGAGCCTCATGATCTCTTATCTTTTGAGGCTGAGGCAGGTCACATGCAACAAATTGTGACCCTGCTCCCCACAAGTCATGCAAAGGTTTTGAAGAGCTTTTACCGTGGGGCAGATGAACTTGTGTCAACCATGCACACCCTGTGAGAACCAAGTACCTGTGTTTCTAAGGCGGGCACTCAAGGTGAGGGGTGCATTCTGGCCAAAGAAACAAAAGCTGTGGTTTCAGGACCATGCCGTGTGTAGCTGATCTGTACGGGACGTGTATGTAAGGAAGAGCAATCATGATAGATAAGAACAGTGTGTGAAGCAGCCTTCACACTAGAGTGTTTGGTCATCTCTTATAATGTAAGGGAAGGTACTTTAAAATTCTGGGAAGATGCGATGAACTCATGTCCCAGTCAGAAAATAATCCAATGAAATAAGCATTGGTTGCCAGGCCACAGTTAGGAATTGTATTGTGATACATCTAGAGGCCAAGAGAGCAGGAGAGAGCTACCAACTTACACTGTGGTTTAAGCTAAATGACCGCACAGCATCATAGCATTGCAGTGTTGTTACTAAATCTGGAAGTGACCTGTGAATGTATGGAATACAATAAAGTCTTTTATTCTGGTTCATTTGCTAGTACTTCCTTTTTGATTGGATACTGTAGTTCTTCCTCTGGATTTTATTTTGTTCAGCGTCAAGGCCCTAATTTTGCAAATGTAGTCTAAACCACATTACGTGGACTAGAGGATACTCTGAATTAGCAAGTTTTTTGTTTGCTGAATAAAACTATTCCATCTTAACAATTCTGTGTAATTTTTGAAAAACATCAACATTTTGGTCACTAGTAGTCAAAATCTTATAAGGCCATATGTCCTGAAAGGCAAAACTCTGTGTATGTGCGATTTACCAGGGAGATAGTAGGACAGTTTTTATGAGGGTTTCAAAGGAGTTCATGGCCCAAATGAAGCTTGTGGCCACCTAGGTTTAGTGTACATGAAATTGGAAGATGCTTCTTGATTGTAGTTCCCATGGGGAAGAGGGAGGCTGTGATCATTTGGTTAGATACAGCATTAATTGTCACAACTTGACTTTCAGAAACAAGAATACTGCACAAACTCAAGCATGCATTGGAGCATGTGTTACTATTTAGAAAAGAGTGCAGCCATCAGTAGGTCAAGCTAGGAGGGCAAAAGAGAGTTGAGAGGAATGCTCTGCCCCTTCCCCATCACAGCACTGCCCCTTTCCACCTCCTCACCAGCTCACCTGTACAAGAGAATTGATCTCAACTGAGTGTCAGCTCACCAGGTCAGAAATTGTTATTGGACCCTAAAACCTTGCCTCACAGGTGGGCACCAAGCTCCCCTTCCCTCTGCTTTCCATGTTTCCCACCTGCCCTCTCCCCACCTGTTTTCAGCCTCTTTTATAATGCTTAAGTAACCTGCTTGAAGAGTATAATTTATGGAGATAAAAATACTCAATGCTTACATTTTTTTCATAACTGTGCCAATTGTTTTGTCAAATGCAGTTACCCACTGGGCAGTGGGCTTATCAAGTGCTCAGTGCAATCCTGTGACTTTTAAGTCATTTTGCATTATTAAGACAATCTTATCTTAAAGTTCAGTGGTTTCATTCAAAGCTCCCCTGAACCTCCATAGTGCCTCCAAGATGTGCTGTCCCTGCCAACTCCTGCACCAGCTTGACTGGTGGTGGAAGAGGCCAGGAAGAGCGGGGGGAAGACATGTGCTAACCACTTCTTAGCAATGAGGCTGGTAAGGTTACTGTCCCCTTGTGCCTGGTCACTAGTAACTTTTTTGTAGACATGAAGGTAGATGCCCTGCAGGTCCTATCAGCAAAGGACCCAACTCCTAACAGCATTGGTGCTCCCTCATGAAATTTGACAGTGTCTTGCCAGCCTCCTGCTGGCAGACACTTCTCTGCAGTGAATACCACTATCCCATGCTGCACTAGTCCCTACCAAGTCTTCAACCCTCAATTTGATCTTCCATGAGTGTCTCAAAAAGTTCCCCTCAGAAGTTTCAGCCAAGGGAATAAAATCTAACCTCTCCTCCCTCAACGGAGTGTCAGGGAGGGGAAGAATCTGTTTTCCAAACACCACAATCTCCCAAAAGGGGATTTCACCCTCCCTTGGTCATCTTTATACAGGGCAATTGTGCTGCTGCTGCTGAGGTGGCCACTTTCAGCAAGCCCTGTGTGCAGGGGCCTAGCTGCATTTAGAAACCAAGCATAGCTATCAAAAAGTAATCTCCAAATAGTTGAATTGCATTTCTTGAGTATCTGGAGAGGATGTGCAGACCACAGGAATACCTAATGCCTTTTTTCTCTTCCTGTCTTTGTCCCTCACACTACAGCAGGCCCCTCCCTTCCCTCTTCAACCTCATCCTCCCTCCCCACAGGCCCAGAGAACCAGTTGGGCTTTGTTCTCCTGCAGGCTATGGTTCATCATGCAAATAGCTCCTGTGTCAGAAATGCTTTTTGGCTTCAAATAACAGAAAAGCTAACACCAGCTTTATCAATAATAATATCGGTGGTTTACTTAAGGTGTCCAGAGATGGTGGAGAACAGGATTGGTTTCCTCCTCAATGTCAAGGACTCAAAGACTCTTTCTGTGGTAGGGCCACATCCTAAACCCTGTATCCTGTGATTATTTACCTGACAGGGCAAAAGAGATTTTGCAGATGCAATTAAGGTTAAGGACCTTGACGTGGGAAGATTGTGATTATTTACCTGACAGGGCAAAAGAGATTTTGCAGATGCAATTAAGGTTAAGGACCTTGACGTGGGAAGATTATTCTGGATTATCTAGGTGGGCGCAATTTGATCACATGGGTCCCCAGAAGTGGAGAACCTTTCCCACCTGTAGAAAGCCAGAGAGCTGGCACCTGAGAAGGACAGAACTGTCATTGCAGGATTTGAAGATGAAGGGGCCCATGAGCCAAGGAATGCCAGTGACCTATAGAGGCTAAAAAACAGCAAGGAAATGGACTCTCCCCAGAGCCTCCAGAGGAATGCAGCCCTGTTGATCACATGATCACCAGATGGCTGCCCCAGAGCCAAATGTCGCTTCCTGAGCACCATACTCAAAGGCAGGGGAAGTGGATGGAGGGCAGGAGCTCCATTCTTGTTTGCCACTCTCCTTTTGTCAATTGGGAAAAAATTCCAGAAACTCTGGGAGCCCTCCCCTTACATTTCCTGGGTCATGGGGCCAGCCCTAGCTGCTGGAGGGACTGAGAACAGCTGTTGAGCAGTTTACCTGACGGCATCTGCCATGGCTTGGCAGGAACTCTGGCTTTGGGAGAGAGCAGCAGCAAGGTATTCAAGCACCACCTCCACCCAGCCCCTCC)$ MQPPGPPPAYAPTNGDFTFVSSADAEDLSGSIASPDVKLNLGGDFIKESTATTFLRQRGYGWLLEVEDDDPEDNKPLLEELDIDLKDIYYKIRCVLMPMPSLGFNRQVVRDNPDFWGPLAVVLFFSMISLYGQFR|IENAAEEPRVLCIIQDTTNSKTVNERITLNLPASTPVRKLFEDVANKVGYINGTFDLVWGNGINTADMAPLDHTSDKSLLDANFEPGKKNFLHLTDKDGEQPQILLEDSSAGEDSVHDRFIGPLPREGSGGSTSDYVSQSYSYSSILNKSETGYVGLVNQAMTCYLNSLLQTLFMTPEFRNALYKWEFEESEEDPVTSIPYQLQRLFVLLQTSKKRAIETTDVTRSFGWDSSEAWQQHDVQELCRVMFDALEQKWKQTEQADLINELYQGKLKDYVRCLECGYEGWRIDTYLDIPLVIRPYGSSQAFASVEEALHAFIQPEILDGPNQYFCERCKKKCDARKGLRFLHFPYLLTLQLKRFDFDYTTMHRIKLNDRMTFPEELDMSTFIDVEDEKSPQTESCTDSGAENEGSCHSDQMSNDFSNDDGVDEGICLETNSGTEKISKSGLEKNSLIYELFSVMVHSGSAAGGHYYACIKSFSDEQWYSFNDQHVSRITQEDIKKTHGGSSGSRGYYSSAFASSTNAYMLIYRLKDPARNAKFLEVDEYPEHIKNLVQKERELEEQEKRQREIERNTCKIKLFCLHPTKQVMMENKLEVHKDKTLKEAVEMAYKMMDLEEVIPLDCCRLVKYDEFHDYLERSYEGEEDTPMGLLLGGVKSTYMFDLLLETRKPDQVFQSYKPGEVMVKVHVVDLKAESVAAPITVRAYLNQTVTEFKQLISKAIHLPAETMRIVLERCYNDLRLLSVSSKTLKAEGFFRSNKVFVESSETLDYQMAFADSHLWKLLDRHANTIRLFVLLPEQSPVSYSKRTAYQKAGGDSGNVDDDCERVKGPVGSLKSVEAILEESTEKLKSLSLQQQQDGDNGDSSKSTETSDFENIESPLNERDSSASVDNRELEQHIQTSDPENFQSEERSDSDVNNDRSTSSVDSDILSSSHSSDTLCNADNAQIPLANGLDSHSITSSRRTKANEGKKETWDTAEEDSGTDSEYDESGKSRGEMQYMYFKAEPYAADEGSGEGHKWLMVHVDKRITLAAFKQHLEPFVGVLSSHFKVFRVYASNQEFESVRLNETLSSFSDDNKITIRLGRALKKGEYRVKVYQLLVNEQEPCKFLLDAVFAKGMTVRQSKEELIPQLREQCGLELSIDRFRLRKKTWKNPGTVFLDYHIYEEDINISSNWEVFLEVLDGVEKMKSMSQLAVLSRRWKPSEMKLDPFQEVVLESSSVDELREKLSEISGIPLDDIEFAKGRGTFPCDISVLDIHQDLDWNPKVSTLNVWPLYICDDGAVIFYRDKTEELMELTDEQRNELMKKESSRLQKTGHRVTYSPRKEKALKIYLDGAPNKDLTQD* 05CO014 ENSG00000119820.11 ENSG00000170242.19 +/+ +/+ chr2:32292348 chr11:11873800 CDS/splice-site CDS/splice-site translocation 1 2 0 156 12 high in-frame . |Ubiquitin_carboxyl-terminal_hydrolase(100%) . . ENSG00000119820.11 ENSG00000170242.19 ENST00000238831.9 ENST00000399455.2 downstream upstream . ^(GTCACTGTTATGGTCCTGTCAGGGTGCCGGCGTCGTGGTGCTTGGGTGGTCGCCACCAAGAAGACTTTGGTGGGGTAGTCTCGGGGCAGCTCAGCGGCCCGCTGTGCCCGTTTCTGGCCTCGCTCGCAGCTTGCACGTCGAGACTCGTAGGCCGCACCGTAGGGCGAGCGTGCGGGTCGCCGCCGCGGCCGCCTCGGGGTCTGGGCCCAGCCGCAGCCTCTTCTACCGCGGCCGGTTGGGAGTCGCCGCGAGATGCAGCCTCCGGGCCCGCCCCCGGCCTATGCCCCCACTAACGGGGACTTCACCTTTGTCTCCTCAGCAGACGCGGAAG___ATCTCAGTGGTTCAATAGCATCCCCAGATGTCAAATTAAATCTTGGTGGAGATTTTATCAAAGAATCTACAGCTACTACATTTCTGAGACAAAGAGGTTATGGCTGGCTTCTGGAAGTTGAAGATGATGATCCTGAAGATAACAAGCCACTCTT___G)GAAGAATTGGACATTGATCTAAAGGATATTTACTACAAAATCCGATGTGTTTTGATGCCAATGCCATCACTTGGTTTTAATAGACAAGTGGTGAGAGACAATCCTGACTTTTGGGGTCCTCTGGCTGTTGTTCTTTTCTTTTCCATGATATCATTATATGGACAGTTTAGG|GATGTGTTTTGGAGATGCAGACAAAATATCTTTGATGAAATGAAGAAGAAATTTTTACAG___ATAGAAAATGCTGCTGAAGAACCTAGAGTCTTATGTATTATACAAGATACTACTAATTCAAAGACAGTGAATGAACGGATCACTTTAAATTTACCAGCATC(TACTCCAGTCAGAAAGCTCTTTGAAGATGTGGCCAACAAAGTAGGCTACATAAATGGAACCTTTGACTTGGTGTGGGGAAATGGAATCAATACTGCTGATATG___GCACCACTGGATCATACCAGTGACAAGTCACTTCTCGACGCTAATTTTGAGCCAGGAAAGAAGAACTTTCTGCATTTGACAGATAAAGATGGTGAACAACCTCAAATACTGCTG___GAGGATTCCAGTGCTGGGGAAGACAGTGTTCATGACAGGTTTATAGGTCCGCTTCCAAGAGAAGGTTCTGGGGGTTCTACCAGTGATTATGTCAGCCAAAGCTACTCCTACTCATCTATTTTGAATAAATCAGAAACTG___GATATGTGGGACTAGTAAACCAAGCAATGACTTGCTATTTGAATAGCCTTTTGCAAACACTTTTTATGACTCCTGAATTTAGGAATGCATTATATAA___GTGGGAATTTGAAGAATCTGAAGAAGATCCAGTGACAAGTATTCCATACCAACTTCAAAGGCTTTTTGTTTTGTTACAAACCAGCAAAAAGAGAGCAATTGAAACCACAGATGTTACAAGGAGCTTTGGATGGGATAGTAGTGAGG___CTTGGCAGCAGCATGATGTACAAGAACTATGCAGAGTCATGTTTGATGCTTTGGAACAGAAATGGAAGCAAACAGAACAG___GCTGATCTTATAAATGAGCTATATCAAGGCAAGCTGAAGGACTACGTGAGATGTCTGGAATGTGGTTATGAGGGCTGGCGAATCGACACATATCTTGATATTCCATTGGTCATCCGACCTTATGGGTCCAGCCAAGCATTTGCTAGTGTG___GAAGAAGCATTGCATGCATTTATTCAGCCAGAGATTCTGGATGGCCCAAATCAGTATTTTTGTGAACGTTGTAAGAAGAAGTGTGATGCACGGAAG___GGCCTTCGGTTTTTGCATTTTCCTTATCTGCTGACCTTACAGCTGAAAAGATTCGATTTTGATTATACAACCATGCATAGGATTAAACTGAATGATCGAATGACATTTCCCGAGGAACTAGATATGAGTACTTTTATTGATGTTGAAGATGAG___AAATCTCCTCAGACTGAAAGTTGCACTGACAGTGGAGCAGAAAATGAAGGTAGTTGTCACAGTGATCAGATGAGCAACGATTTCTCCAATGATGATGGTGTTGATGAAGGAATCTGTCTTGAAACCAATAGTGGAACTGAAAAGATCTCAAAATCTGGACTTGAAAAG___AATTCCTTGATCTATGAACTTTTCTCTGTTATGGTTCATTCTGGGAGCGCTGCTGGTGGTCATTATTATGCATGTATAAAGTCATTCAGTGATGAGCAGTGGTACAGCTTCAATGATCAACATGTCAGCAGG___ATAACACAAGAGGACATTAAGAAAACACATGGTGGATCTTCAGGAAGCAGAGGATATTATTCTAGTGCTTTCGCAAG___TTCCACAAATGCATATATGCTGATCTATAGACTGAAGGATCCAGCCAGAAATGCAA___AATTTCTAGAAGTGGATGAATACCCAGAACATATTAAAAACTTGGTGCAGAAAGAGAGAGAGTTGGAAGAACAAGAAAAGAGACAACGAGAAATTGAGCGCAATACATGCAAG___ATAAAATTATTCTGTTTGCATCCTACAAAACAAGTAATGATGGAAAATAAATTGGAGGTTCATAAGGATAAGACATTAAAGGAAGCAGTAGAAATGGCTTATAAG___ATGATGGATTTAGAAGAGGTAATACCCCTGGATTGCTGTCGCCTTGTTAAATATGATGAGTTTCATGATTATCTAGAACGGTCATATGAAGGAGAAGAAGATACACCAATGGGGCTTCTACTAGGTGGCGTCAAGTCAACATATATGTTTGATCTGCTGTTGGAGACGAGAAAGCCTGATCAGGTTTTCCAATCTTATAAACCTGGAG___AAGTGATGGTGAAAGTTCATGTTGTTGATCTAAAGGCAGAATCTGTAGCTGCTCCTATAACTGTTCGTGCTTACTTAAATCAGACAGTTACAGAATTCAAACAACTGATTTCAAAG___GCCATCCATTTACCTGCTGAAACAATGAGAATAGTGCTGGAACGCTGCTACAATGATTTGCGTCTTCTCAGTGTCTCCAGTAAAACCCTGAAAGCTGAAGGATTTTTTAGAAGTAACAAG___GTGTTTGTTGAAAGCTCCGAGACTTTGGATTACCAGATGGCCTTTGCAGACTCTCATTTATGGAAACTCCTGGATCGGCATGCAAATACAATCAGATTATTTGTTTTGCTACCTGAACAATCCCCAGTATCTTATTCCAAAAGGACAGCATACCAGAAAGCTGGAGGCGATTCTGGTAATGTGGATGATGACTGTGAAAGAGTCAAAGGACCTGTAGGAAGCCTAAAGTCTGTGGAAGCTATTCTAGAAGAAAGCACTGAAAAACTCAAAAGCTTGTCACTGCAGCAACAGCAGGATGGAGATAATGGGGACAGCAGCAAAAGTACTGAGACAAGTGACTTTGAAAACATCGAATCACCTCTCAATGAGAGGGACTCTTCAGCATCAGTGGATAATAGAGAACTTGAACAGCATATTCAGACTTCTGATCCAGAAAATTTTCAGTCTGAAGAACGATCAGACTCAGATGTGAATAATGACAGGAGTACAAGTTCAGTGGACAGTGATATTCTTAGCTCCAGTCATAGCAGTGATACTTTGTGCAATGCAGACAATGCTCAGATCCCTTTGGCTAATGGACTTGACTCTCACAGTATCACAAGTAGTAGAAGAACGAAAGCAAATGAAGGGAAAAAAGAAACATGGGATACAGCAGAAGAAGACTCTGGAACTGATAGTGAATATGATGAGAGTGGCAAGAGTAGGGGAGAAATGCAGTACATGTATTTCAAAGCTGAACCTTATGCTGCAGATGAAGGTTCTGGGGAAGGACATAAAT___GGTTGATGGTGCATGTTGATAAAAGAATTACTCTGGCAGCTTTCAAACAACATTTAGAGCCCTTTGTTGGAGTTTTGTCCTCTCACTTCAAGGTCTTTCGAGTGTATGCCAGCAATCAAGAGTTTGAGAGCGTCCGGCTGAATGAGACACTTTCATCATTTTCTGATGACAATAAG___ATTACAATTAGACTGGGGAGAGCACTTAAAAAAGGAGAATACAGAGTTAAAGTATACCAGCTTTTGGTCAATGAACAAGAG___CCATGCAAGTTTCTGCTAGATGCTGTGTTTGCTAAAGGAATGACTGTACGGCAATCAAAAGAGGAATTAATTCCTCAGCTCAGGGAGCAATGTGGTTTAGAGCTCAGTATTGACAG___GTTTCGTCTAAGGAAAAAAACATGGAAGAATCCTGGCACTGTCTTTTTGGATTATCATATTTATGAAGAAGATATTAATATTTCCAGCAACTGGGAGGTTTTCCTTGAAGTTCTTGATG___GGGTAGAGAAGATGAAGTCCATGTCACAGCTTGCAGTTTTGTCAAGACGGTGGAAGCCTTCAGAGATGAAGTTGGATCCCTTCCAGGAGGTTGTATTGGAAAGCAGTAGTGTGGACGAATTGCGAGAGAAG___CTTAGTGAAATCAGTGGGATTCCTTTGGATGATATTGAATTTGCTAAG___GGTAGAGGAACATTTCCCTGTGATATTTCTGTCCTTGATATTCATCAGGATTTAGACTGGAATCCTAAAGTTTCTACCCTGAATGTCTGGCCTCTTTATATCTGTGATGATGGTGCGGTCATATTTTATAG___GGATAAAACAGAAGAATTAATGGAATTGACAGATGAGCAAAGAAATGAACTGATGAAAAAAGAAAGCAGTCGACTCCAGAAGACTGGACATCGTGTAACATACTCACCTCGTAAAGAGAAAGCACTAAAAATATATCTGGATGGAGCACCAAATAAAGATCTGACTCAAGACTGACTCTGATAGTGTAGCATTTTCCCTGGGGGAGTTTTGGTTTTAATTAGATGGTTCACTACCACTGGGTAGTGCCATTTTGGCCGGACATGGTTGGGGTAACCCAGTGACACCAGCACTGATTGGACTGCCCTACACCAATCAGAAGCTCAGTGCCCAATGGGCCACTGTTTTGACTCGGAATCATGTTGTGCACTATAGTCAAATGTACTGTAAAGTGAAAAGGGATGTGCAAAAAAATAAAAAAAAACAACAAAAAAAGCTAACCTTCTATTAGAAAAGGGGACAGGGGAATGAGTAAACTTCTTTTATTGCGGACAAATGTGCACATAGCCGCTAGTAAAACTAGCCTCAAACAGGATGCTCATAGCTTAATAATAAAAGCTGTGCAAAGGCCATGAATGAATGAATTTTCTGTTTATTTCACTGATGCACACATTACCTCATTGACAATTCAGAAGTAAATCCAACGTGTGTTGACTCTTGGAAAGCAGCAAAAACAGGAGCTGAAGAAAAGAAATTCTTGGAACCAGCCGTAACCCAGTAAGGAATTGTGAAGTTGTGTTTTTATTTTGTTTCATTTTTTGCAGAGTATTAAGAACATTATTCTGGAACATCAGAACGTTTCCCTTAGACCGATCCCAGCAGGTGGCAGCTCAGATTGCTGCAGTGTTGTAATTATAACTGATTGTACTTAAGTTATGGATGTAGAGAATATGTTTCATTCATTTATTCAGCATGTAAATAAAATTGATCCTGTTGAGTTATCATAATTGCAGTTCAACTATCTGCCATGATTATTCTTTTCACGTATCATTCATTCTGTACATTTGTGTACATTGAGAAGTATAGCAATCTATGTAAATGTAATCCTCAGTGAGGTTCCTCAGTGCTAGGTCCCATAGGATTGTCGTTGCCCTTGTTAATGAGGTTTCTCTGTTCAGCGGCTTCAATTTTTTTCTCTTTGTACATCTAGTTTTGAAGATTTACTTCAAGTTTGAATCTTCTAGAATGCTTGTAAGTCCAGTTTTAATTTTTAGAGTCAATTTGTAGTTACATGTAGTTTAACTTTTGGGAAACGTCTTAACATTGTTCTGAATAAACTTGCTAATGAGGTCAGGTCATGGTACAGACTGATGCAGTCAACATGATTTCATTGCAGAGTTTATTAGTATCAGCAAGTTTTTGCTTTGCTAAATAAAAGTACTCAATGAACACAATTCTACATAAATTTTGACATACCATCTAATTTATAAAAATCAATAAAAAAGGTTTTGGTAAAACTTTTTCATGCCAGATGCTGTTTACAACAATGAACATGCCAATAAAACATTTGTTCATTCTGTTGTGTTATTTTAGTCATTAAACTTCTGTGGATGAAGAATCTGGGTTAAGAATAGATTTGTCATCTTTAAATATGACATTTTGTAATGTGTATTGGATATCTCATTTCTATGATAAAGGTATATTTACAGTAAAGTTCTCATAAGAGAAATGAAAAGCTGTGTTAATATCTAACTTTGGGGAACCCTGTCAGTATTTCAGATCCGATTTTTACCCTTTTTTTCTTATAAGAAAGATAAAATTAGAAAATACTGTTAGCAAATGTGGCTCTGCCATTTGAATATAATCACCGAGAATTCCATGTCTTAAAAGTCTCCTGGAATCCACAATGAAAAAAAAAATCTTTTCTAAGGTATTTTTCTGGCTAATTTTTATTTGAAGAAAGCTATAGCATTTAGCGAAATTTGACTGAAGTAATGTTCTGAGTTTGCATTAGTGGGATTGGTGATGTTCTCAGAAGAAAATTGGAAACACTTGTGATGAATTGTCTTTCAGATCACTTAGATTTTCTGATGTAAGAGGACAGCTGTTTGGTTCTGATACAGGCCTGCTTACTTGGGATGTAGGGTTAGTAAATGGGGTTTCTGCTTTAAAGGACTGACTTGCTATCACACAAAAGAGGCAGACTTGTAAACACAATGGGCTTTGGAGTTTGGTCTGATTGGGTTTGGTTTAGTATTCCTATGAGCGTAAATGGTAAAATTCTTCTGATACCCACTCTTTAGACTGTGCCTTCTGCTCTGTTCTTTGTTTTATGTTTAACTGCTGTTTCTAATTGCAGGTGTATTACAGATACAAATAAGAGTAAAGAAAATATATTTCATTATAGAAAAGAAAAAATTAAAAGCTTCTTGCTTTTCAGTGCCTGATAGAGTGAAAACACAAAGTTGCACTTTAATAATTTCAATAAAAGCTAATCTGTGTCAGCCTCCCTCTGCTTCAGAGAGTCAGGTGAGCATCCATAACCTAACAGGCAGAGCCCTAGCGATGTGGATCAAGTTTCCTGAGCCCGGGGGCGGTGGAGCCTCATGATCTCTTATCTTTTGAGGCTGAGGCAGGTCACATGCAACAAATTGTGACCCTGCTCCCCACAAGTCATGCAAAGGTTTTGAAGAGCTTTTACCGTGGGGCAGATGAACTTGTGTCAACCATGCACACCCTGTGAGAACCAAGTACCTGTGTTTCTAAGGCGGGCACTCAAGGTGAGGGGTGCATTCTGGCCAAAGAAACAAAAGCTGTGGTTTCAGGACCATGCCGTGTGTAGCTGATCTGTACGGGACGTGTATGTAAGGAAGAGCAATCATGATAGATAAGAACAGTGTGTGAAGCAGCCTTCACACTAGAGTGTTTGGTCATCTCTTATAATGTAAGGGAAGGTACTTTAAAATTCTGGGAAGATGCGATGAACTCATGTCCCAGTCAGAAAATAATCCAATGAAATAAGCATTGGTTGCCAGGCCACAGTTAGGAATTGTATTGTGATACATCTAGAGGCCAAGAGAGCAGGAGAGAGCTACCAACTTACACTGTGGTTTAAGCTAAATGACCGCACAGCATCATAGCATTGCAGTGTTGTTACTAAATCTGGAAGTGACCTGTGAATGTATGGAATACAATAAAGTCTTTTATTCTGGTTCATTTGCTAGTACTTCCTTTTTGATTGGATACTGTAGTTCTTCCTCTGGATTTTATTTTGTTCAGCGTCAAGGCCCTAATTTTGCAAATGTAGTCTAAACCACATTACGTGGACTAGAGGATACTCTGAATTAGCAAGTTTTTTGTTTGCTGAATAAAACTATTCCATCTT)$ MQPPGPPPAYAPTNGDFTFVSSADAEDLSGSIASPDVKLNLGGDFIKESTATTFLRQRGYGWLLEVEDDDPEDNKPLLEELDIDLKDIYYKIRCVLMPMPSLGFNRQVVRDNPDFWGPLAVVLFFSMISLYGQFR|DVFWRCRQNIFDEMKKKFLQIENAAEEPRVLCIIQDTTNSKTVNERITLNLPASTPVRKLFEDVANKVGYINGTFDLVWGNGINTADMAPLDHTSDKSLLDANFEPGKKNFLHLTDKDGEQPQILLEDSSAGEDSVHDRFIGPLPREGSGGSTSDYVSQSYSYSSILNKSETGYVGLVNQAMTCYLNSLLQTLFMTPEFRNALYKWEFEESEEDPVTSIPYQLQRLFVLLQTSKKRAIETTDVTRSFGWDSSEAWQQHDVQELCRVMFDALEQKWKQTEQADLINELYQGKLKDYVRCLECGYEGWRIDTYLDIPLVIRPYGSSQAFASVEEALHAFIQPEILDGPNQYFCERCKKKCDARKGLRFLHFPYLLTLQLKRFDFDYTTMHRIKLNDRMTFPEELDMSTFIDVEDEKSPQTESCTDSGAENEGSCHSDQMSNDFSNDDGVDEGICLETNSGTEKISKSGLEKNSLIYELFSVMVHSGSAAGGHYYACIKSFSDEQWYSFNDQHVSRITQEDIKKTHGGSSGSRGYYSSAFASSTNAYMLIYRLKDPARNAKFLEVDEYPEHIKNLVQKERELEEQEKRQREIERNTCKIKLFCLHPTKQVMMENKLEVHKDKTLKEAVEMAYKMMDLEEVIPLDCCRLVKYDEFHDYLERSYEGEEDTPMGLLLGGVKSTYMFDLLLETRKPDQVFQSYKPGEVMVKVHVVDLKAESVAAPITVRAYLNQTVTEFKQLISKAIHLPAETMRIVLERCYNDLRLLSVSSKTLKAEGFFRSNKVFVESSETLDYQMAFADSHLWKLLDRHANTIRLFVLLPEQSPVSYSKRTAYQKAGGDSGNVDDDCERVKGPVGSLKSVEAILEESTEKLKSLSLQQQQDGDNGDSSKSTETSDFENIESPLNERDSSASVDNRELEQHIQTSDPENFQSEERSDSDVNNDRSTSSVDSDILSSSHSSDTLCNADNAQIPLANGLDSHSITSSRRTKANEGKKETWDTAEEDSGTDSEYDESGKSRGEMQYMYFKAEPYAADEGSGEGHKWLMVHVDKRITLAAFKQHLEPFVGVLSSHFKVFRVYASNQEFESVRLNETLSSFSDDNKITIRLGRALKKGEYRVKVYQLLVNEQEPCKFLLDAVFAKGMTVRQSKEELIPQLREQCGLELSIDRFRLRKKTWKNPGTVFLDYHIYEEDINISSNWEVFLEVLDGVEKMKSMSQLAVLSRRWKPSEMKLDPFQEVVLESSSVDELREKLSEISGIPLDDIEFAKGRGTFPCDISVLDIHQDLDWNPKVSTLNVWPLYICDDGAVIFYRDKTEELMELTDEQRNELMKKESSRLQKTGHRVTYSPRKEKALKIYLDGAPNKDLTQD* 05CO014 ENSG00000064651.14 ENSG00000230561.4 +/+ +/+ chr5:128131206 chr5:127875538 CDS/splice-site CDS/splice-site duplication 6 8 0 1080 20 high in-frame . Amino_acid_permease(100%),Amino_acid_permease_N-terminal(100%)| . . ENSG00000064651.14 ENSG00000230561.4 ENST00000262461.7 ENST00000514853.3 downstream upstream duplicates(1) ^(ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAG___GAACCTTTTGAGGATGGCTTTGCAAATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATACTGCAGAAAGTAAAGGAGTCGTGAAGTTTGGCTGGATCAAGGGTGTATTA___GTACGTTGTATGTTAAACATTTGGGGTGTGATGCTTTTCATTAGATTGTCATGGATTGTGGGTCAAGCTGGAATAG___GTCTATCAGTCCTTGTAATAATGATG)GCCACTGTTGTGACAACTATCACAGGATTGTCTACTTCAGCAATAGCAACTAATGGATTTGTAAGAGGAG___GAGGAGCATATTATTTAATATCTAGAAGTCTAGGGCCAGAATTTGGTGGTGCAATTGGTCTAATCTTCGCCTTTGCCAACGCTGTTGCAGTTGCTATGTATGTGGTTGGATTTGCAGAAACCGTGGTGGAGTTGCTTAAG|AAACTAAAGCATGAAAAGAAAGTGAAAAAACTACAGACTGATTTGGCAACAGCTAATGCCATCACAGTTCTGGAACTCAATGAGAAGATAAAGACTCTATATGAAGGAAAGCCAGCCCCTAGAG___AAGACAGCTTGCTGGAAGGGTTCTGTGGAGGgCTCCCACCTGTGGAAGAAGGTGATAGAAAA(ATTAGCCTGATAATGGAACTGTCAACCCAGGTTTCCCTTCAGACTGAGAGAATTACTCAGCTGAAAGAAGTTTTGGAGGAAAAGGAAAGGAAGATTCAGCAGCTGGAAGCTGAGCGGAGTCCCCATCCTCCCCAAGAGGTCAAGGACCCTCCAGGATGTTTACCAGAAGCCCCAGTTTTCTCTACTCATGACATCCCACCTGTGGTCTCTGATGAGAATTTGTAGATTCCCAATAAGAAAACAATAAAAGTTTATTAAGTGTCATCCAGGTAAAGTCTGATACCAAATAGTCTCCTAGGTGACAAACTCAAGTTCAAGTTCATGTGTTTGAATGTATACTATCATGTTCGTATTGGAAGGAAACAAAAAAAAGGAAATGTTCAAGAGCAAA)$ MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLK|KLKHEKKVKKLQTDLATANAITVLELNEKIKTLYEGKPAPREDSLLEGFCGGLPPVEEGDRKISLIMELSTQVSLQTERITQLKEVLEEKERKIQQLEAERSPHPPQEVKDPPGCLPEAPVFSTHDIPPVVSDENL* 05CO014 ENSG00000064651.14 ENSG00000230561.4 +/+ +/+ chr5:128131206 chr5:127941182 CDS/splice-site CDS/splice-site duplication 6 4 0 1080 98 medium out-of-frame . Amino_acid_permease(100%),Amino_acid_permease_N-terminal(100%)| . . ENSG00000064651.14 ENSG00000230561.4 ENST00000262461.7 ENST00000514853.3 downstream upstream duplicates(1),inconsistently_clipped(1) ^(ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAG___GAACCTTTTGAGGATGGCTTTGCAAATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATACTGCAGAAAGTAAAGGAGTCGTGAAGTTTGGCTGGATCAAGGGTGTATTA___GTACGTTGTATGTTAAACATTTGGGGTGTGATGCTTTTCATTAGATTGTCATGGATTGTGGGTCAAGCTGGAATAG___GTCTATCA)GTCCTTGTAATAATGATGGCCACTGTTGTGACAACTAaCACAGGATTGTCTACTTCAGCAATAGCAACTAATGGATTTGTAAGAGGAG___GAGGAGCATATTATTTAATATCTAGAAGTCTAGGGCCAGAATTTGGTGGTGCAATTGGTCTAATCTTCGCCTTTGCCAACGCTGTTGCAGTTGCTATGTATGTGGTTGGATTTGCAGAAACCGTGGTGGAGTTGCTTAAG|AAGACAGCTTGCTGGAAGGGTTCTGTGGAGGTCTCCCACCTGTGGAAGAAGGTGATAGAAAAATTAGCCTGATAATGGAACTGTCAACCCAGGTTTCCCTTCAGACTGAGAGAATTACTCAGCTaAAAGAAGTTTTGGAGGAAAAGGAAAGGAAGATTCAGCAGCTGGAAGCTGAGCGGAGTCCCCATCCTCCCCAAGAGGTCAAGGACCCTCCAGGATGTTTACC(AGAAGCCCCAGTTTTCTCTACTCATGACATCCCACCTGTGGTCTCTGATGAGAATTTGTAGATTCCCAATAAGAAAACAATAAAAGTTTATTAAGTGTCATCCAGGTAAAGTCTGATACCAAATAGTCTCCTAGGTGACAAACTCAAGTTCAAGTTCATGTGTTTGAATGTATACTATCATGTTCGTATTGGAAGGAAACAAAAAAAAGGAAATGTTCAAGAGCAAA)$ MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTnTGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLK|ktacwkgsvevshlwkkviekla* 05CO014 ENSG00000180008.9 ENSG00000020577.14(21807),ENSG00000131979.19(26886) +/+ ./+ chr14:55031991 chr14:54815122 5'UTR/splice-site intergenic duplication 7 6 0 38 22 high . . . . . ENSG00000180008.9 . ENST00000555846.2 . downstream upstream duplicates(1),inconsistently_clipped(1) ^(ACGGAAGTGGTGGCGGCGCCCAGGGAACCGGCGGAGGCGATGACCGTGACGGCTGGGTTGGGACCGGAACGCCGAAGCGGGGTTGGGGGTGGCAGAAAAGCATCTGCTTTGTAAGACCTACACGAGGTGCAGGAGTGGTTGGGCCTCCCCTCTCCACTTAAGCAAGCGCCCAGACTGATGGCGATGGTGATGGCAGCAGTTACTCGCACAACCCCAGTTAAG)CTGCGCTCCGGGAG___GAGTTCATCTGTTGTCTGCTCTCCAGTGACTTCCGTTTGTGGAGCCTAAGTGTTTCTACAGAATCCAACTCAAATATCAAGGACTATGATCAGAATGCTTTCAAGGAGTTTTTGGGCACATGATGGCAG|GGAATGAAGCGGTTTCTCTCACAGCCTGACCGCTCTTCCGGGAGCACCTGCCAATTTGGATGACGAAGGGGCCGTCCAGGGAGGAGCACACACTGCCAGCTGCCTTCCTGACTTCCGACGTCACCACTTCCCAGACCGTCCTCACGCCGTTTTCTCCTCATAAATCCAGTTATTGAAACTGGCAGAACACTTTGTGATATTGTCCTCCTGGTATCAGATCCATCCCTGGACCTCTCACTGGAAGGTCCCAGCTCTGACTTCTC . 05CO014 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 8 0 32 21 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTT)GTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO014 ENSG00000144724.20 ENSG00000189283.10 +/+ -/+ chr3:61748982 chr3:61244954 CDS/splice-site intron duplication/5'-5' 1 10 0 15 22 high out-of-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000144724.20 ENSG00000189283.10 ENST00000474889.6 . downstream upstream inconsistently_clipped(1) ^(ATGTTACTTCCTGTATGGAGGCATGGCCAGTTTCCAGCCCCGCGCTCTTCGTTCCTTCCCAGCCTGCGCCGGAGCCACAACTTTCAGGAGCATGGACTGAAGGCGCCCTCGCCCCAGCGCCCCTCTGAGATCCTTTGTGTTTTCCTCCGTTTCCTCCGGCCGTTTCTATTTTGGGGGGCTCTCCGCTCCCCCTGCCTCTCCCCTCCCCTTCCCCTCTCGCAAACATGCCTCCTTCCTTCCCGGGGCCCTGGAAGGAGCTGCCTGCCTGAAGCCCGGAGACGCCGCGCCGCGCTCAGCCCCGCCGCCGCCCGCCGGCTCTCGGGCTGTGCTGCGCTGCCGACTCAAGTTGGGGATCCTCGGCTGCTCGCCGCCGCCGCCCGCGGTCCCTGCCTGCCCCAGGCCCGGGGCATCGCCGCCGGCCGCCGACTCCGCGCCCTGCCCGATCGGCTCTCTCCTTTTTAAACGGAAAGCAGCCTTTCTCCGCCGAGAGGATCGTCCCCAGCGTGGCTCTGCGTTCCCGGTCACTTTTTGAGATTTTCCGGGGGGCGCTCGGCGGCTTCCCGGATTCCAAGGGGACTCGGGCCGCCGAGCGCGGGGGGCCCGTGGAGCGGGCGAGCCGGGGAAGCGCCCCGGCTTAGCGGAGGCTCGCACGGAGGCAAGAACTTATTCAACAAGTTTACCTCCCTGCTTTCCTCTTTTCGATGTGCGTTTTCGGACATGCGGAGGTTACTGGAACCGT)GTTGGTGGATTTTGTTCCTGAAAATCACCAGTTCCGTGCTCCATTATGTCGTGTGCTTCCCCG___CGTTGACAGAAGGCTACGTTGGGGCCCTGCACGAGAATAGACACGGCAGCGCAGTGCAGATCCGCAGGCGCAAGGCTTCAGGCGACCCGTACTGGGCCTACTCTG|GGGAGTCAACCAAGAACCTGAGGGTGAGGAAAAGATACTTCTCCTCCCCGACCCCATAATACGCCAACTTTTACAGAGGATTGAAGAAATTCCAAACATCATATCATAGAG___CTGTATATTCTTTGAGATACTTGAGATCTTTCTGGTTCATGCCCTCATCTGGAAAATGG MRRLLEPCWWILFLKITSSVLHYVVCFPALTEGYVGALHENRHGSAVQIRRRKASGDPYWAYS|gestknlrvrkryfssptp* 05CO014 ENSG00000075420.13 ENSG00000170209.5 +/+ +/+ chr3:172039771 chr11:113393481 5'UTR/splice-site CDS/splice-site translocation 2 7 0 44 44 high . . |Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Protein_kinase_domain(100%) . . ENSG00000075420.13 ENSG00000170209.5 ENST00000415807.7 ENST00000303941.4 downstream upstream . ^(ATTGACATGGCGGAATCCCCCATCAAACCCTCCTGGTAGTTATTTGAGCGGCGGCGGCGGCGGCTGGAGGAGGAGAGCGGCGGCGGCGGGAGCAGCGAAGGGG)GCGGCAGGGATCCTCCAGGCTGCCGGCTGGGAAGGCGTGGGCGACCCGGTGTGTGGCGCGCCCAGAGCCCCGCGTTTCAGCCCTAGGGAAG|CTCTGATGTGAATTACCTCATTGAAGAAGCTGCCAAAATGAAGAAGATCAAGTTTCAGCACATCGTGTCcATCTACGGGGTGTGCAAGCAGCCCCTGGGTATTGTGATGGAGTTTATGGCCAACGGCTCCCTGGAGAAGGTGCTGTCCACCCACAGCCTCTGCTGGAAGCTCAGGTTCCGCATCATCCATGAGACCAGCTTGGCCATGAACTTCCTGCACAGCATTAAGCCGCCTCTGC(TCCACCTGGACCTCAAGCCGGGCAACATACTCCTGGACAGCAACATGCATGTCAAA___ATTTCAGACTTCGGCCTGTCCAAGTGGATGGAACAGTCCACCCGGATGCAGTACATCGAGAGGTCGGCTCTGCGGGGCATGCTCAGCTACATCCCCCCTGAGATGTTCCTGGAGAGTAACAAGGCCCCAGGACCTAAATATGATGTGTACAG___CTTTGCAATTGTCATCTGGGAGCTACTCACTCAGAAGAAACCATACTCAG___GGTTCAACATGATGATGATTATTATCCGAGTGGCGGCAGGCATGCGGCCCTCCCTACAGCCTGTCTCTGACCAATGGCCAAGCGAGGCCCAGCAGATGGTGGACCTGATGAAACGCTGCTGGGACCAGGACCCCAAGAAGAGGCCATGCTTTCTAG___ACATTACCATCGAGACAGACATACTGCTGTCACTGCTGCAGAGTCGTGTGGCAGTCCCAGAGAGCAAGGCCCTGGCCAGGAAGGTGTCCTGCAAGCTGTCGCTGCGCCAGCCCGGGGAG___GTTAATGAGGACATCAGCCAGGAACTGATGGACAGTG___ACTCAGGAAACTACCTGAAGCGGGCCCTTCAGCTCTCCGACCGTAAGAATTTGGTCCCGAGAGATGAGGAACTGTGTATCTATGAGAACAAGGTCACCCCCCTCCACTTCCTGGTGGCCCAGGGCAGTGTGGAGCAGGTGAGGTTGCTGCTGGCCCACGAGGTAGACGTGGACTGCCAGACGGCCTCTGGATACACGCCCCTCCTGATCGCCGCCCAGGACCAGCAACCCGACCTCTGTGCCCTGCTTTTGGCACATGGTGCTGATGCCAACCGAGTGGATGAGGATGGCTGGGCCCCACTGCACTTTGCAGCCCAGAATGGGGATGACGGCACTGCGCGCCTGCTCCTGGACCACGGGGCCTGTGTGGATGCCCAGGAACGTGAAGGGTGGACCCCTCTTCACCTGGCTGCACAGAATAACTTTGAGAATGTGGCACGGCTTCTGGTCTCCCGTCAGGCTGACCCCAACCTGCATGAGGCTGAGGGCAAGACCCCCCTCCATGTGGCCGCCTACTTTGGCCATGTTAGCCTGGTCAAGCTGCTGACCAGCCAGGGGGCTGAGTTGGATGCTCAGCAGAGAAACCTGAGAACACCACTGCACCTGGCAGTAGAGCGGGGCAAAGTGAGGGCCATCCAACACCTGCTGAAGAGTGGAGCGGTCCCTGATGCCCTTGACCAGAGCGGCTACGGCCCACTGCACACTGCAGCTGCCAGGGGCAAATACCTGATCTGCAAGATGCTGCTCAGGTACGGAGCCAGCCTTGAGCTGCCCACCCACCAGGGCTGGACACCCCTGCATCTAGCAGCCTACAAGGGCCACCTGGAGATCATCCATCTGCTGGCAGAGAGCCACGCAAACATGGGTGCTCTTGGAGCTGTGAACTGGACTCCCCTGCACCTAGCTGCACGCCACGGGGAGGAGGCGGTGGTGTCAGCACTGCTGCAGTGTGGGGCTGACCCCAATGCTGCAGAGCAGTCAGGCTGGACACCCCTCCACCTGGCGGTCCAGAGGAGCACCTTCCTGAGTGTCATCAACCTCCTAGAACATCACGCAAATGTCCACGCCCGCAACAAGGTGGGCTGGACACCCGCCCACCTGGCCGCCCTCAAGGGCAACACAGCCATCCTCAAAGTGCTGGTCGAGGCAGGCGCCCAGCTGGACGTCCAGGATGGAGTGAGCTGCACACCCCTGCAACTGGCCCTCCGCAGCCGAAAGCAGGGCATCATGTCCTTCCTAGAGGGCAAGGAGCCGTCAGTGGCCACTCTGGGTGGTTCTAAGCCAGGAGCCGAGATGGAAATTTAGACAACTTGGCCAGCCGTGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGATATCAAGAGTTTGAGGCCAGCCTGGCCAACATGGCAAAACCCTGTCTCTGCTAAAAATACAAAATTTAGCTGGG)$ . 05CO014 ENSG00000283765.1 ENSG00000090534.20 -/- -/- chr3:183862753 chr3:184373582 CDS/splice-site CDS/splice-site duplication 4 4 0 247 30 high out-of-frame . |Erythropoietin/thrombopoietin(100%) . . ENSG00000283765.1 ENSG00000090534.20 ENST00000639401.1 ENST00000445696.6 upstream downstream . ^(GGGGTTGGTAAGGTCGGGCCATGGTGGGGCAGAGGTTGGGAAGATGGCGTGGCGAGGCTGGGCGCAGAGAGGCTGGGGCTGCGGCCAGGCGTGGGGTGCGTCGGTGGGCGGCCGCAGCTGCGAGGAGCTCACTGCGGTCCTAACCCCGCCGCAGCTCCTCGGACGCAG___GTTTAACTTCTTTATTCAACAAAAATGCGGATTCAGAAAAGCACCCAGGAAGGTTGAACCTCGAAGATCAGACCCAGGGACAAGTGGTGAAGCATACAAGAGAAGTGCTTTGATTCCTCCTGTGGAAGAAACAGTCTTTTATCCTTCTCCCTATCCTATAAGGAGTCTCATAAAACCTTTATTTTTTACTGTTGGG___TTTACAGGCTGTGCATTTGGATCAGCTGCTATT)TGGCAATATGAATCACTGAAATCCAGGGTCCAGAGTTATTTTGATGGTATAAAAGCTGATTGGTTGGATAGCATAAGACCACAAAAAGAAGGAGACTTCAGAAAGGAG___ATTAACAAGTGGTGGAATAACCTAAGTGATGGCCAGCGGACTGTGACAG|GAGGAGACCAAGGCACAGGACATTCTGGGAGCAGTGACCCTTCTGCTGGAGGGAGTGATGGCAGCACGGGGACAACTGGGACCCACTTGCCTCTCATCCCTCCTGGGGCAGCTTTCTGGACAGGTCCGTCTCCTCCTTGGGGCCCTGCAGAGCCTCCTTGGAACCCAG___GGCAGGACCACAGCTCACAAGGATCCCAATGCCATCTTCCTGAGCTTCCAACACCTGCTCCGAGGAAAGGTGCGTTTCCT(GATGCTTGTAGGAGGGTCCACCCTCTGCGTCAGGCGGGCCCCACCCACCACAGCTGTCCCCAGCAGAACCTCTCTAGTCCTCACACTGAACGAGCTCCCAAACAGGACTTCTGGATTGTTGGAGACAAACTTCACTGCCTCAGCCAGAACTACTGGCTCTGGGCTTCTGAAGTGGCAGCAGGGATTCAGAGCCAAGATTCCTGGTCTGCTGAACCAAACCTCCAGGTCCCTGGACCAAATCCCCGGATACCTGAACAGGATACACGAACTCTTGAATGGAACTCGTGGACTCTTTCCTGGACCCTCACGCAGGACCCTAGGAGCCCCGGACATTTCCTCAGGAACATCAGACACAGGCTCCCTGCCACCCAACCTCCAGCCTGGATATTCTCCTTCCCCAACCCATCCTCCTACTGGACAGTATACGCTCTTCCCTCTTCCACCCACCTTGCCCACCCCTGTGGTCCAGCTCCACCCCCTGCTTCCTGACCCTTCTGCTCCAACGCCCACCCCTACCAGCCCTCTTCTAAACACATCCTACACCCACTCCCAGAATCTGTCTCAGGAAGGGTAAGGTTCTCAGACACTGCCGACATCAGCATTGTCTCGTGTACAGCTCCCTTCCCTGCAGGGCGCCCCTGGGAGACAACTGGACAAGATTTCCTACTTTCTCCTGAAACCCAAAGCCCTGGTAAAAGGGATACACAGGACTGAAAAGGGAATCATTTTTCACTGTACATTATAAACCTTCAGAAGCTATTTTTTTAAGCTATCAGCAATACTCATCAGAGCAGCTAGCTCTTTGGTCTATTTTCTGC)$ MAWRGWAQRGWGCGQAWGASVGGRSCEELTAVLTPPQLLGRRFNFFIQQKCGFRKAPRKVEPRRSDPGTSGEAYKRSALIPPVEETVFYPSPYPIRSLIKPLFFTVGFTGCAFGSAAIWQYESLKSRVQSYFDGIKADWLDSIRPQKEGDFRKEINKWWNNLSDGQRTVT|ggdqgtghsgssdpsaggsdgstgttgthlplippgaafwtgpsppwgpaeppwnpgqdhssqgsqchlpelptpaprkgafpdacrrvhplrqagpthhscpqqnlssphterapkqdfwivgdklhclsqnywlwasevaagiqsqdswsaepnlqvpgpnpripeqdtrtlewnswtlswtltqdprspghflrnirhrlpatqppawifsfpnpssywtvyalpssthlahpcgpapppas* 05CO014 ENSG00000175193.14 ENSG00000090534.20 -/- -/- chr3:183862753 chr3:184373582 CDS/splice-site CDS/splice-site duplication 4 4 0 247 30 high out-of-frame . |Erythropoietin/thrombopoietin(100%) . . ENSG00000175193.14 ENSG00000090534.20 ENST00000317096.9 ENST00000445696.6 upstream downstream . ^(AAGGTCGGGCCATGGTGGGGCAGAGGTTGGGAAGATGGCGTGGCGAGGCTGGGCGCAGAGAGGCTGGGGCTGCGGCCAGGCGTGGGGTGCGTCGGTGGGCGGCCGCAGCTGCGAGGAGCTCACTGCGGTCCTAACCCCGCCGCAGCTCCTCGGACGCAG___GTTTAACTTCTTTATTCAACAAAAATGCGGATTCAGAAAAGCACCCAGGAAGGTTGAACCTCGAAGATCAGACCCAGGGACAAGTGGTGAAGCATACAAGAGAAGTGCTTTGATTCCTCCTGTGGAAGAAACAGTCTTTTATCCTTCTCCCTATCCTATAAGGAGTCTCATAAAACCTTTATTTTTTACTGTTGGG___TTTACAGGCTGTGCATTTGGATCAGCTGCTATT)TGGCAATATGAATCACTGAAATCCAGGGTCCAGAGTTATTTTGATGGTATAAAAGCTGATTGGTTGGATAGCATAAGACCACAAAAAGAAGGAGACTTCAGAAAGGAG___ATTAACAAGTGGTGGAATAACCTAAGTGATGGCCAGCGGACTGTGACAG|GAGGAGACCAAGGCACAGGACATTCTGGGAGCAGTGACCCTTCTGCTGGAGGGAGTGATGGCAGCACGGGGACAACTGGGACCCACTTGCCTCTCATCCCTCCTGGGGCAGCTTTCTGGACAGGTCCGTCTCCTCCTTGGGGCCCTGCAGAGCCTCCTTGGAACCCAG___GGCAGGACCACAGCTCACAAGGATCCCAATGCCATCTTCCTGAGCTTCCAACACCTGCTCCGAGGAAAGGTGCGTTTCCT(GATGCTTGTAGGAGGGTCCACCCTCTGCGTCAGGCGGGCCCCACCCACCACAGCTGTCCCCAGCAGAACCTCTCTAGTCCTCACACTGAACGAGCTCCCAAACAGGACTTCTGGATTGTTGGAGACAAACTTCACTGCCTCAGCCAGAACTACTGGCTCTGGGCTTCTGAAGTGGCAGCAGGGATTCAGAGCCAAGATTCCTGGTCTGCTGAACCAAACCTCCAGGTCCCTGGACCAAATCCCCGGATACCTGAACAGGATACACGAACTCTTGAATGGAACTCGTGGACTCTTTCCTGGACCCTCACGCAGGACCCTAGGAGCCCCGGACATTTCCTCAGGAACATCAGACACAGGCTCCCTGCCACCCAACCTCCAGCCTGGATATTCTCCTTCCCCAACCCATCCTCCTACTGGACAGTATACGCTCTTCCCTCTTCCACCCACCTTGCCCACCCCTGTGGTCCAGCTCCACCCCCTGCTTCCTGACCCTTCTGCTCCAACGCCCACCCCTACCAGCCCTCTTCTAAACACATCCTACACCCACTCCCAGAATCTGTCTCAGGAAGGGTAAGGTTCTCAGACACTGCCGACATCAGCATTGTCTCGTGTACAGCTCCCTTCCCTGCAGGGCGCCCCTGGGAGACAACTGGACAAGATTTCCTACTTTCTCCTGAAACCCAAAGCCCTGGTAAAAGGGATACACAGGACTGAAAAGGGAATCATTTTTCACTGTACATTATAAACCTTCAGAAGCTATTTTTTTAAGCTATCAGCAATACTCATCAGAGCAGCTAGCTCTTTGGTCTATTTTCTGC)$ MAWRGWAQRGWGCGQAWGASVGGRSCEELTAVLTPPQLLGRRFNFFIQQKCGFRKAPRKVEPRRSDPGTSGEAYKRSALIPPVEETVFYPSPYPIRSLIKPLFFTVGFTGCAFGSAAIWQYESLKSRVQSYFDGIKADWLDSIRPQKEGDFRKEINKWWNNLSDGQRTVT|ggdqgtghsgssdpsaggsdgstgttgthlplippgaafwtgpsppwgpaeppwnpgqdhssqgsqchlpelptpaprkgafpdacrrvhplrqagpthhscpqqnlssphterapkqdfwivgdklhclsqnywlwasevaagiqsqdswsaepnlqvpgpnpripeqdtrtlewnswtlswtltqdprspghflrnirhrlpatqppawifsfpnpssywtvyalpssthlahpcgpapppas* 05CO014 ENSG00000234678.2 ENSG00000133067.17 -/- +/- chr1:202009800 chr1:202292546 exon/splice-site intron duplication/5'-5' 2 2 0 29 4 high . . . . . ENSG00000234678.2 ENSG00000133067.17 ENST00000419190.2 . upstream downstream . ^(TGCATATTCAGTGCCACTTGGCCCGGATCTTAGCAGGCAGTGCTGGGAAATCAGGCCCGGCTGGTTTAATGATTGTCAGAGTCTGTCATCCCGCACCCTCTGGGGTTGGGCACGGGGCACTGGCCTGGGCAGGTGGCGGGAACGTTGCTGGGGTGGGCATCTGTGCTTTCGGCTGCCCTCTGGCCCAGGAAATTCCTCCCAGGGGCCAGGCCAGAGATGGGCCAGGCAGGGGGAGGGCAAGTGAGGGAACATGAACCCCTGGCTGACCTGAGTCAGAAAGCTGCTGGCCCCTAAATTCCAGAGATTCAGCAACAAAGAGGCCTAGTAGGGAGAGGAGTTACTAGGTTTAGGGGTTTTTCCCAGAACACCCAGGACTCTGGCCAGGGGCTGGAAGGTGCTCCAGGCTCAATGCTGGGCAATACTCATGGATTAATTGGTGCTGGCTGGGCCTGCCAGCCTAGTCGTGGCCCCAGGGTCCCCACTAAAGGGCTCCTTCTCCAGCGCCCACTC)TGTTGGCAAGGTCTTCACTACCATCACCTGCCTGGACTCCATCCAAGCATCAGGGTTGCTGCAGTCGCTCCTGAAGAGACCCGGCTCTGCTTGAAAGTTCTTCCCTCAGCGCCTGCTGGAGCCCTCCCTGCCGGAGTTGCCAGAATCCACACGG|CTACAGGCCAAAAACAATGAGGCCCTGGAGGTGGCAAGCTCCCAAGAAGCCAGATCCCTGAGTCATCACATGGATGAGGCCACCTGCCAAGAAGACACACTCTCCTTAGACTGTTACATGATCCAGAAATAAACTTCTATTGTGTTTG . 05CO014 ENSG00000107829.15 ENSG00000272970.3 -/- +/- chr10:101667886 chr3:184724689 CDS/splice-site intron translocation/5'-5' 1 3 0 102 5 high out-of-frame . F-box-like(100%),WD_domain__G-beta_repeat(100%)| . . ENSG00000107829.15 ENSG00000272970.3 ENST00000664783.1 . upstream downstream . ^(AAGTGGCTCCAAGGCTGCAGGTGTGAGGGGCGTGCCCAGGGCTCGGCCCGCGCCGCCCCATGTGACCCGGTCCGACATGGTGTCGCCTCCTCCCGGGGCGGCGGCGGTGGCGGCTCGGGCTGGGCTCCGCGTCGGGCCGGCCCCGCGGCCGCTCATGGGCAGCCAGGGCCGCTCGGGGCCCCCCGGGAACGGCGGGCCCGGCGAGGGCGAGGGCGGAGAGGCGAGGAAGCTGCAGGAAGGGAGGGTGGCGAGGGGGAAGCGAAGGAAGGGGAAGGGGAAGGGAAAAGCGAGAGCGGGGCAAGGCGGAAGAGGAAGCGGGGCGGAAGGGAAGCCCGGGCCGCAGACGGCGAAGGAGGCAGCCGGGCCGGGGGCTGACGCGGGAGCGAGGGCATGCCCAAGGGAGGAAGCAGAGGGAGGCAGAAGCGTGGAGGAAGGGGCGAGAGGCATCGTCAAGGGAGTCGAGGGGAGCGCAGGGGCCGGGAAGGAGGCACAAGGAAGAGAGTATGGGAAGAAGGAGGAATGGAGGGTCAGGGCTAGGCGGCGGGAGGGCGCCAGGCCGGGAAGAGCACAGGGACGAGGGGGTCAGGCTTGGGCCGACATCGCGGGGACAGGGGTGGCCATGGCGGCGGCGGCCGGGGAGGAGGAGGAGGAGGAGGAGGCGGCTCGGGAGTCGGCTGCCCGCCCGGCCGCGGGGCCTGCGCTCTGGCGCCTGCCGGAGGAGCTGCTGCTGCTCATCTGCTCCTACCTGGACATGCGGGCCCTCGGCCGCCTGGCCCAGGTGTGCCGCTGGCTGCGGCGCTTCACCAGCTGCGATCTGCTCTGGCGCCGGATAGCCCGGGCCTCGCTCAACTCCGGCTTCACGCGGCTCGGCACCGACCT___GATGACCAGTGTCCCAGTGAAGGAACGAGTGAAGGTGTCTCAGAACTGGAGACTGGGGCGCTGCCGAGAGGGGATTCTGCTGAAGTGGAGATGCAG___TCAGATGCCCTGGATGCAGCTAGAGGATGATTCTCTGTACATATCCCAGGCTAATTTCATCCTGGCCTACCAGTTCCGTCCAGATGGTGCCAGCTTGAATCGTCGGCCTCTGGGAGTCTTTGCTGGGCATGATGAGGACGTTTGCCACTTTGTGCTGGCCAACTCGCATATTGTTAGTGCAGGAGG___GGATGGGAAGATTGGCATTCATAAGATTCACAGCACCTTCACTGTCAAGTACTCGGCTCATGAACAGGAGGT)GAACTGTGTGGATTGCAAAGGGGGCATCATTGTGAGTGGCTCCAGGGACAGGACGGCCAAG___GTGTGGCCTTTGGCCTCAGGCCGGCTGGGGCAGTGCTTACACACCATCCAGACTGAAGACCGAGTCTGGTCCATTGCTATCAGCCCATTACTCAG|GTGAAGATACCAAGACACAGGGAGGATCCTTGGTTTGCTCAAAGTTGCACCAGCAGTGAGCTGCAAAGCTGGATTTGAATGTCAAATGTCAATCCGTTTGATTCAAAAGCTCACATCTGTTAGAAAGTGCCACATCTGCC MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRRIARASLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQMPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTEDRVWSIAISPLLr|* 05CO014 ENSG00000133816.15 ENSG00000262655.4 +/+ +/- chr11:12227131 chr11:14134749 CDS/splice-site intron inversion/3'-3' 2 2 0 145 2 high out-of-frame . Calponin_homology_(CH)_domain(100%),FAD_binding_domain(100%)| . . ENSG00000133816.15 ENSG00000262655.4 ENST00000646065.1 . downstream downstream . ^(ATGGGGGAAAACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAGAACTTTGTCCAGGCATCCACGTGCAAAGGTACCCTCCAGGCCTTCAACATTCTCACACGACACCTGGACCTAGACCCTCTGGACCACAGAAACTTTTATTCCAAGCTCAAGTCCAAGGTGACCACCTGGAAAGCCAAAGCCCTGTGGTACAAATTGGATAAGCGTGGTTCCCACAAAGAGTATAAGCGAGGGAAGTCGTGCACGAACACCAAG___TGTCTCATAGTTGGGGGAGGACCCTGTGGCTTGCGCACTGCCATTGAACTTGCCTACCTGGGAGCCAAAGTGGTCGTGGTGGAGAAGAGGGACTCCTTCTCCCGGAACAACGTGCTACACCTCTGGCCTTTCACCATCCATGACCTTCGTGGCCTGGGAGCCAAGAAGTTCTATGGGAAGTTCTGTGCTGGCTCCATCGACCATATCA___GTATTCGCCAACTACAGCTCATCCTATTCAAGGTGGCCCTGATGCTGGGAGTTGAAATCCATGTGAATGTGGAGTTCGTGAAGGTTCTAGAGCCTCCTGAAGATCAAGAAAATCAAA___AAATTGGCTGGCGGGCAGAATTTCTCCCTACAGACCATTCTCTGTCGGAGTTTGAGTTTGACGTCATCATTGGTGCCGATGGCCGCAGGAACACCCTGGAAG___GGTTCAGAAGAAAAGAATTCCGTGGGAAGCTGGCGATTGCCATCACCGCCAACTTCATAAACAGAAACAGCACAGCGGAAGCCAAGGTGGAAGAGATTAGTGGTGTGGCTTTCATCTTCAATCAGAAATTTTTTCAGGACCTTAAAGAAGAAACAG___GCATAGATCTTGAGAACATTGTTTACTACAAGGACTGCACCCACTATTTTGTAATGACAGCCAAGAAGCAGAGCCTGCTCGACAAAGGTGTCATCATTAAC___GACTACATCGACACAGAGATGCTGCTGTGTGCGGAGAACGTGAACCAAGACAACCTGCTATCCTATGCCCGGGAAGCTGCAGACTTTGCCACCAACTACCAGCTGCCATCCTTAGACTTTGCCATGAACCACTATGGGCAGCCTGATGTGGCCATGTTTGACTTTACCTGCATGTATGCCTCAGAGAACGCGGCCCTGGTGCGGGAGCGGCAGGCGCACCAGCTGCTCGTGGCCCTTGTGGGTGACAGCTTGCTTGAG___CCATTTTGGCCCATGGGTACAGGCTGTGCCCGTGGCTTCCTGGCAGCCTTTGACACGGCATGGATGGTGAAGAGCTGGAACCAGGGCACCCCTCCCCTGGAGCTGCTGGCTGAAAG___GGAAAGTCTCTACCGGCTGTTACCTCAGACAACCCCGGAGAACATCAACAAGAACTTTGAGCAGTACACGTTGGACCCAGGGACACGGTACCCAAACCTCAACTCACACTGTGTCAGGCCCCATCAG___GTGAAGCATTTGTATATCACTAAGGAGCTGGAGCACTACCCTCTCGAGAGACTGGGCTCGGTGAGGAGATCTGTCAACCTCTCCAGGAAGG___AGTCAGATATCCGGCCCAGCAAGCTCCTGACCTGGTGCCAGCAGCAGACAGAGGGCTACCAGCATGTCAACGTCACCGACCTGACCACATCCTGGCGCAGTGGGTTGGCCCTGTGTGCCATCATCCACCGCTTCCGGCCTGAGCTCAT___CAACTTTGACTCTTTGAATGAAGATGATGCTGTGGAGAACAACCAGCTCGCATTTGATGTGGCCGAGCGAGAGTTTGGGATCCCTCCAGTGACCACGGGCAAAGAGATGGCATCTGCCCAGGAGCCTGACAAGCTCAGCATGGTCA)TGTACCTCTCCAAGTTCTACGAGCTCTTCCGGGGCACCCCACTaAGGCCCGTGG___ATTCTTGGCGCAAAAACTATGGAGAAAATGCTGACCTCAGCTTGGCCAAATCATCCATTTCTAATAACTATCTCAACCTCACATTTCCAAGGAAGAGGACTCCACGG|ATAAATCATCCAGACAGCAGTGTGAAGAATGCATTGGAGAGAGCACAGTTGGAGTGGAGAGCTGGAGAG___CTCTAGGTCTTCTCCCCAGGCACTGTGGTGTGGTTTTGTCAGTTTGACTGTCGGAGGACAGCCTTATTTTCAGGAGCTG MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPR|inhpdssvknaleraqlewragel* 05CO014 ENSG00000232202.1(152666),ENSG00000224739.2(21072) ENSG00000115970.18 ./- -/- chr2:42980283 chr2:43279896 intergenic CDS/splice-site duplication 2 1 0 23 33 high . . . . . . ENSG00000115970.18 . ENST00000405975.6 upstream downstream . GGCTAACAAGCCCTGAGATGAAcGATGCTCTTCCCAAGGAAGGCAGAGGAGGCGACAGTCCATTTGCGTTCTCTCCTCTGCAAGTACAGGATCTCGTTTGATTCTCAAAACCACCCTAGAGGAGACAGGAGGCACCTGAGGCCCAGAGACGTGAAGCCACCTGTCCAAGGCCATACAGCAG|AGTTGCAGGATACACTTGCTCTCTGGAAGTGTGTCCTTACCCTTCTGCAGAGTGAGGAGCAAGCTGTTAGAGATGCAGCCACGGAAACCGTGACAACTGCCATGTCACAAGAAAATACCTGCC(AGTCAACAG___AGTTTGCCTTCTGCCAGGTGGATGCCTCCATCGCTCTGGCCCTGGCCCTGGCCGTCCTGTGTGATCTGCTCCAGCAGTGGGACCAGTTGGCCCCTGGACTGCCCATCCTGCTGGGATGGCTGTTGGGAGAGAGTGATGACCTCGTGGCCTGTGTGGAGAGCATGCATCAG___GTGGAAGAAGACTACCTGTTTGAAAAAGCAGAAGTCAACTTTTGGGCCGAGACCCTGATCTTTGTGAAATACCTCTGCAAGCACCTCTTCTGTCTCCTCTCAAAGTCCGGCTGGCGTCCCCCAAGCCCTGAGATGCTCTGTCACCTTCAAAGGATGGTGTCAGAGCAGTGCCACCTCCTGTCTCAGTTCTTCAGAGAGCTTCCACCAGCTGCTGAGTTTGTGAAGACAGTGGAGTTCACAAGACTACGCATTCAAGAGGAAAGGACTTTGGCTTGCTTGAGGCTGCTGGCCTTTTTGGAAGGAAAGGAAGGGGAAGACACCCTAGTTCTCAGTGTTTGGGACTCTTATGCAGAATCGAGGCAGTTAACTCTTCCAAGAACAGAAGCGGCATGTTGAAGAAAATCTGGGGGATTGGGATGGGGGTATGTGTGGATTTTTCCTCCACTAAATCTGCAGGAAACATGTTGAACATAAATTCAAAAATTTTATCCCATTCATGCCTCCCCTA)$ . 05CO014 ENSG00000049130.16 ENSG00000246363.3 -/- -/- chr12:88580264 chr12:89175274 CDS/splice-site intron duplication 1 1 0 39 2 high out-of-frame . Stem_cell_factor(100%)| . . ENSG00000049130.16 ENSG00000246363.3 ENST00000347404.10 ENST00000549278.2 upstream downstream . ^(AACAGAGGGAGCTCCGAGCCCTCTCTGGCGCGCGAGGTATTTCGTCTGTCCCCGGGGGTGCCAGGTGAGCCCCAGCGGATCCGGGAGGGTAAGCTGGGACTCCTCGCGAGCAGTAGCTGCAGGGTACCAAGCTTCGCCCTCTGCGTCCCCGCGCCTTCGCGGTCTCCCGCCAGTGCAGGTCCGGGGCCCCCAGGCGAGCGGACAAGGTTGGCCTAATCTGCCAAACTTCTGGGGCATTTACCGTGCTCTGGCCGCCCTCCCGATTCTTCCCTCCGCGCCCTTGCCTGCTTCTCGCCTACCCCGGGCTCCGGAAGGGAAGGAGGCGTGTCCGGAGCAGGCGGGCGGGAACTGTATAAAAGCGCCGGCGGCTCAGCAGCCGGGCTTCGCTCGCCGCCTCGCGCCGAGACTAGAAGCGCTGCGGGAAGCAGG)GACAGTGGAGAGGGCGCTGCGCTCGGGCTACCCAATGCGTGGACTATCTGCCGCCGCTGTTCGTGCAATATGCTGGAGCTCCAGAACAGCTAAACGGAGTCGCCACACCACTGTTTGTGCTGGATCGCAGCGCTGCCTTTCCTTATGAAGAAGACACAA|GATGGAGCTTCCAGGATAGAGCTTCTTTTTTCCTCATGGCCTTGACCACCTAGAATGCCACTAGAATGGAG___GCCATATCCAGTAACAGAGTCTACTGCATCATATTAACTGATAAACCCAGGATGACAA(GAGAAACATGGGACTCACTCTTCATTTGCATTGACTCCAGCTAAGAGCTTCAGTTTTCATGCTTTGCTTCAGAATTATTG___TGGTCTGATGCAGAACTGAAAAGGCCAACACGAGAATCTTCAAGTACAATTGCCTGGGAATCCTGAGGTCTGGACAGCAACACCTGAATCTGAATCTCTTTTGGGTTGAATCATAAAAGAAAATAGTATGGAGAGATTTAAGGCCAGGCCTCTGGAGAAGG___AATTGATAAAATATGTGGTAGTACCTGCGCTACAGAACAGAATTCACTTGGAAGTTCTTGGCATATAGTAAGCACTCAGTAACTGTCAGTTATCGCTCTCATCTCTATGAAGACTGTATTTGACATGACATCATCTCCATAAGATTCCTGAACTCAACTTTATTTCCTCTTTTTTCCTTTAACCCCAATTTTCTAATACCAATTAGTAAGGTGGCTTCCTCTCCTTCTGGACTTGCTACTCCCAGAAGGAAATTAAATTACAAGTCTCTAATTCCCTAGGCATTCCCTTGTAGCCAAAGTCATTAATCAGTGGCTCATATTTAAAAAAATTGCTCTAGGCCTCTGGAGACTCTTTCTATGGCATAATAGATTTTCATTTGTTTCTCATCCCCTGAGTAGCTTTTAATTCAGGATGGATATTTGCCCTGCAATTTCTTTTATTCCCTGGATAATTTGAAAAGCCAGGGGAACAGTGTCACTTTGTCTTATCCCTTCCCTCTTTATTAGTCAGTCTGTTCTAACAAAATGTTGGTTGGTCCACGCTTTTCATGGAATGTCATGGTTAACTGATAAGCTGCCCCCAAACTCGGTATCCTGGTTTAATGTTATAATCATAATGCCCTCTGAGATCACTTAGAGAAAAGCTGAGGGTAGCAACTCTGTGGATTCTTATTTACCTTATGCGTTTGACATCTGCAATGATGTGCTTCTTTACCACCTCCCTCATCAAATTAAACTAAGAATGAAAACAGATGGGCTGGGAAGCCAGTGGATCAAAAGAAGGACCTGGGGGAAGCTCAGCTTGGGGACCGGCTTGCTCTTTGCCCTCACTATTTGTCAACTGGGAATCTCCTGGGTGCTCAGCTGTGCTGGAATCTCAG___ATGAGTAAATTGAAGCCCAGAAAGGCCAAGAAACTTGAACCATTTA___GGTGAAGAAGAGTGCTCACCAGATTCCCTTCTGGTCTGGAAAAAGAAATCCCTTCTTTTGTGGATGTCATCTCTACCATCTCTCGGTGAAAAATATTTCAAGAGAATCCTAAGATGGAGAGAGCATTGGAAGTCATCCGGCCCAATTCCCTTGTGCAATTCAAAGCTTCTTTGTAAG___AAAAATGCCCCCAGAAGTTTGTTTGCATCATGAAGATCAGATTTTGAGGATCCAGTCTGGCTCTTCCCTGTACAAAACATTCCTCACAAACAGAATATGGACAATTGTTAAATGTCAAAGGTAAAGTTATTGTGGGAACTCCTTCAAAAAGTTCAAGTGAGAGCCCATTCTATGAATGACCATTTACATCTAATTTTTTTCTGTGCTATGTTACTTATTCTGAAGTGGTTGATCCAATTCCTAAAAGGGAATATTTCATTACCTTTTATTTCCTATAGCATCCATTCTGACCCCTTTTCGGTTTAATTATTCCCTGATTCCAGTCTTCATTCACTCATTTATTTGAGGAATATTTATTGACCAACAACTATGCCAGGTCCCATTCTATGTGTAGGGACTATAAAGTTGAACAAGACAGAGGAGGTACTGGCCTCAGAATTTACATTCTAGTAGATGAGAAAGTAAAAATAAACACATGAAAACATGAATGAACCGGATATTGTAGACTGTGATAGGTGTAGTTTGGGTAAAGCACAGAGTGCAGTAGTAAAGATAAACTGCACTCAGAGTGGGGCTATTTTAGATGGAATGGAGATCTCTGAGGAAATGAAATTTGAGCTGAGACCTAAAAGGTCACCCAAGGACTCATGGGAAAACTCAGTTGTTTCTATCAAAATTTAGCTTCATGAACTCCAGGCCCTTGCAAATGATGGTTACCAGGTGAGAAATGTCTCACTGGCAACAGAGGTTGGCAGACCCAGCTCCAGTTCCATCCCAGCCAACATACCAATGTCATTAAAATAAGGCCATTCATCAAGGTGGAGACTATTACTAGAAACAAGCATTCTAAAGTGCCATTTGAGTGCCAGGCTCTCAACACTGGGCGTAGCACTGCTCCATGAGGCTTTTGAGAGCATATACTGAGGCATGACCAAAAAAATTAAGTCCCATGTAAGTGATGCAACTGCTCCCCAATTACTGTGGAAGTATCTGCAGACTAACTATTGTGCGTGTGTGTTTGTTTGCTTTAATGAATAAATTCAGTCAACCAACCATCTAGCTATTGACTAAATCCATTCTTTTTCTTCCAAAATGTCTATTGGCTGAAGTTTACTGGTTTTTATTTCTATTCGCATACGTAATTTTCTAAACCCCATTCTTATGGAACCTTCTCTAAGTTCCTCTCTATGGCCCTGTCCATGTTCATACGGATACACATAAAGACACAAATACACCAAACTAAGTTTAGAGCAGTCTGGTGCCTGCCTAAGACTTCAGCCTCATCTCCTGCTTCTACCCTCTTTAGTTTAGGAAAAACAGGTAACGTTGCTGAGTGCCAAGTATTGTGTTAGTAGCTTTGCATGCATTTTTTCATTTTATCTTCACAAGTTTCTTCTATCACCATGATCTGTATGTTTGACCATGGTGTTTCCTCCACCTGAAATTCCCTTGGTGCTCTGCCTGGGGAACTGTTACTCATTCTTCAAATCTCAACGGAATGATCTCCTCCTCTGGAAAGCTCTCCCTACTTCCCTAGGAAGAAGTAATCCCTTCCTCAGTTCTGCTTTGATTATAACTTTATAAGCACCTATCACTCTGCATGGTATTAGTTCACTGTCATGTCCATTTCCTCTATTGGGATGTAAATTGCTTATGGGTAATAATTAGGCTTTGAATCATTTTATGATCTGGCCTAAGACAGTGCTTGGCACATACTATAGGCTCATCAGATGATGGCTGAGTAGAATTAAATTGAATCAAGTTGAAGTTATACTTTGATGTTTATCAATTAACATGTGTAGTGTGTTAAATGGTGGTCACTGAAAACATACGTCTGCACCCTAATTCCTGGAACCTGTGAATATAACCTTACATGTTAAGAAGAAATATGACCTTAAATGGATATGGAGACAAGGAGCTTATCCTGGATTGTCTGAGAGGGCCCTAGATGCAATCGCATGTATTCTGATAAGTGGAGAGAAACAGAAGAGGAGGATGCAATGTGACCATGTAGGCAGAAGTTTGAATGGTGCAGCCACAAGCCAAGGAGCCCCTGGGGCCATCAGAAGCTGGAAGAAGCAAGGAATGGATTCCTTCCTAGTGTTTGGAAGGAGTGTGCACTTGCCAACACCTTGGTTTGAGACTTCTGGCCTCTGGAACTGTGACAGAATAAATATCTGTTGTTTTGAGCCACCCAATTGTTGCTAATTTGTTAAAGCAACCTTAGAAAATTAATATAGCATCCACAATAAAATTTCTCAAAATATATGTTCCTGTGAAATGGAAGAGTTCTAGGGATCTAGTAGCATATACGGAACCCAGATAAGTTATACAAGTTTTTCCCTGAAAGTCTTTTCAGATTCTTTAGCGGGCTAAGGTGCATTGTGAATCCCAAAAACTTTAGCGTTTTTCAGCATCTATTATCACATAATCCTTTCCCCACCCATGGAATTATATACTAAACTGTTTTTGTAGATGTTGATGTTCTGTAGAACAGAGTTTTGGGGTCTGTATGACTTAAGATCCTTCTACAATGGAACACAGTGAGGAGGGTATTCAGAGGAGTCATAGAGGGCATTGATCTTGCAATATATACTCAGGAAATTACCATGGGCAG)$ MKKTQ|dgasriellfsswp* 05CO014 ENSG00000049130.16 ENSG00000246363.3 -/- -/- chr12:88580264 chr12:89022916 CDS/splice-site exon/splice-site duplication 2 0 0 39 10 medium out-of-frame . Stem_cell_factor(100%)| . . ENSG00000049130.16 ENSG00000246363.3 ENST00000347404.10 ENST00000549278.2 upstream downstream . ^(AACAGAGGGAGCTCCGAGCCCTCTCTGGCGCGCGAGGTATTTCGTCTGTCCCCGGGGGTGCCAGGTGAGCCCCAGCGGATCCGGGAGGGTAAGCTGGGACTCCTCGCGAGCAGTAGCTGCAGGGTACCAAGCTTCGCCCTCTGCGTCCCCGCGCCTTCGCGGTCTCCCGCCAGTGCAGGTCCGGGGCCCCCAGGCGAGCGGACAAGGTTGGCCTAATCTGCCAAACTTCTGGGGCATTTACCGTGCTCTGGCCGCCCTCCCGATTCTTCCCTCCGCGCCCTTGCCTGCTTCTCGCCTACCCCGGGCTCCGGAAGGGAAGGAGGCGTGTCCGGAGCAGGCGGGCGGGAACTGTATAAAAGCGCCGGCGGCTCAGCAGCCGGGCTTCGCTCGCCGCCTCGCGCCGAGACTAGAAGCGCTGCGGGAAGCAGGGACAGTGGAGAGGGCGCTGCGCTCGGGCT)ACCCAATGCGTGGACTATCTGCCGCCGCTGTTCGTGCAATATGCTGGAGCTCCAGAACAGCTAAACGGAGTCGCCACACCACTGTTTGTGCTGGATCGCAGCGCTGCCTTTCCTTATGAAGAAGACACAA|ATGAGTAAATTGAAGCCCAGAAAGGCCAAGAAACTTGAACCATTTA(___GGTGAAGAAGAGTGCTCACCAGATTCCCTTCTGGTCTGGAAAAAGAAATCCCTTCTTTTGTGGATGTCATCTCTACCATCTCTCGGTGAAAAATATTTCAAGAGAATCCTAAGATGGAGAGAGCATTGGAAGTCATCCGGCCCAATTCCCTTGTGCAATTCAAAGCTTCTTTGTAAG___AAAAATGCCCCCAGAAGTTTGTTTGCATCATGAAGATCAGATTTTGAGGATCCAGTCTGGCTCTTCCCTGTACAAAACATTCCTCACAAACAGAATATGGACAATTGTTAAATGTCAAAGGTAAAGTTATTGTGGGAACTCCTTCAAAAAGTTCAAGTGAGAGCCCATTCTATGAATGACCATTTACATCTAATTTTTTTCTGTGCTATGTTACTTATTCTGAAGTGGTTGATCCAATTCCTAAAAGGGAATATTTCATTACCTTTTATTTCCTATAGCATCCATTCTGACCCCTTTTCGGTTTAATTATTCCCTGATTCCAGTCTTCATTCACTCATTTATTTGAGGAATATTTATTGACCAACAACTATGCCAGGTCCCATTCTATGTGTAGGGACTATAAAGTTGAACAAGACAGAGGAGGTACTGGCCTCAGAATTTACATTCTAGTAGATGAGAAAGTAAAAATAAACACATGAAAACATGAATGAACCGGATATTGTAGACTGTGATAGGTGTAGTTTGGGTAAAGCACAGAGTGCAGTAGTAAAGATAAACTGCACTCAGAGTGGGGCTATTTTAGATGGAATGGAGATCTCTGAGGAAATGAAATTTGAGCTGAGACCTAAAAGGTCACCCAAGGACTCATGGGAAAACTCAGTTGTTTCTATCAAAATTTAGCTTCATGAACTCCAGGCCCTTGCAAATGATGGTTACCAGGTGAGAAATGTCTCACTGGCAACAGAGGTTGGCAGACCCAGCTCCAGTTCCATCCCAGCCAACATACCAATGTCATTAAAATAAGGCCATTCATCAAGGTGGAGACTATTACTAGAAACAAGCATTCTAAAGTGCCATTTGAGTGCCAGGCTCTCAACACTGGGCGTAGCACTGCTCCATGAGGCTTTTGAGAGCATATACTGAGGCATGACCAAAAAAATTAAGTCCCATGTAAGTGATGCAACTGCTCCCCAATTACTGTGGAAGTATCTGCAGACTAACTATTGTGCGTGTGTGTTTGTTTGCTTTAATGAATAAATTCAGTCAACCAACCATCTAGCTATTGACTAAATCCATTCTTTTTCTTCCAAAATGTCTATTGGCTGAAGTTTACTGGTTTTTATTTCTATTCGCATACGTAATTTTCTAAACCCCATTCTTATGGAACCTTCTCTAAGTTCCTCTCTATGGCCCTGTCCATGTTCATACGGATACACATAAAGACACAAATACACCAAACTAAGTTTAGAGCAGTCTGGTGCCTGCCTAAGACTTCAGCCTCATCTCCTGCTTCTACCCTCTTTAGTTTAGGAAAAACAGGTAACGTTGCTGAGTGCCAAGTATTGTGTTAGTAGCTTTGCATGCATTTTTTCATTTTATCTTCACAAGTTTCTTCTATCACCATGATCTGTATGTTTGACCATGGTGTTTCCTCCACCTGAAATTCCCTTGGTGCTCTGCCTGGGGAACTGTTACTCATTCTTCAAATCTCAACGGAATGATCTCCTCCTCTGGAAAGCTCTCCCTACTTCCCTAGGAAGAAGTAATCCCTTCCTCAGTTCTGCTTTGATTATAACTTTATAAGCACCTATCACTCTGCATGGTATTAGTTCACTGTCATGTCCATTTCCTCTATTGGGATGTAAATTGCTTATGGGTAATAATTAGGCTTTGAATCATTTTATGATCTGGCCTAAGACAGTGCTTGGCACATACTATAGGCTCATCAGATGATGGCTGAGTAGAATTAAATTGAATCAAGTTGAAGTTATACTTTGATGTTTATCAATTAACATGTGTAGTGTGTTAAATGGTGGTCACTGAAAACATACGTCTGCACCCTAATTCCTGGAACCTGTGAATATAACCTTACATGTTAAGAAGAAATATGACCTTAAATGGATATGGAGACAAGGAGCTTATCCTGGATTGTCTGAGAGGGCCCTAGATGCAATCGCATGTATTCTGATAAGTGGAGAGAAACAGAAGAGGAGGATGCAATGTGACCATGTAGGCAGAAGTTTGAATGGTGCAGCCACAAGCCAAGGAGCCCCTGGGGCCATCAGAAGCTGGAAGAAGCAAGGAATGGATTCCTTCCTAGTGTTTGGAAGGAGTGTGCACTTGCCAACACCTTGGTTTGAGACTTCTGGCCTCTGGAACTGTGACAGAATAAATATCTGTTGTTTTGAGCCACCCAATTGTTGCTAATTTGTTAAAGCAACCTTAGAAAATTAATATAGCATCCACAATAAAATTTCTCAAAATATATGTTCCTGTGAAATGGAAGAGTTCTAGGGATCTAGTAGCATATACGGAACCCAGATAAGTTATACAAGTTTTTCCCTGAAAGTCTTTTCAGATTCTTTAGCGGGCTAAGGTGCATTGTGAATCCCAAAAACTTTAGCGTTTTTCAGCATCTATTATCACATAATCCTTTCCCCACCCATGGAATTATATACTAAACTGTTTTTGTAGATGTTGATGTTCTGTAGAACAGAGTTTTGGGGTCTGTATGACTTAAGATCCTTCTACAATGGAACACAGTGAGGAGGGTATTCAGAGGAGTCATAGAGGGCATTGATCTTGCAATATATACTCAGGAAATTACCATGGGCAG)$ MKKTQ|msklkprkakklepfr* 05CO014 ENSG00000259153.2 ENSG00000262655.4 +/+ +/- chr14:70812321 chr11:14260783 intron intron translocation/5'-5' 4 4 0 6 21 medium . . . . . ENSG00000259153.2 ENSG00000262655.4 . . downstream downstream mismatches(6) AGCAAAACAGAAACAGGAAAAAAAGTACTAAAAAGAGAAAAATGTCAGTAGTGGGTCTCTAAGTAGTCGGATTATGAGTAATTGG___...TAAAGAATCATTCATCAAACATTTCAACAAGTCATTCAGTTAATATTTGTTGAATGGGTAAGTGCTAGGAATTCAAATGAGGGTAGATCTTTCAGACTAAACTTGTCTGGCAGGGTTGCATGGAAGAAGCAGAA|GTGATGGGCCTTGAGGAGCTCCAGGACTTACGGCATTCAGGGAGCATGCACTTCTCCACCTGCTCCAGATCCTCATTGCAGTCTCCAAGTTCTGCCAGAGACTTGAGCATCCGCTGTCGGGTTCGCATGCCCTTCCCGCAGGTCACGCTGCAGTCACTCCACTCGGACCATGGGGACAGCAAGCATGGGATGGTGTCTAGATCAAGAACCAGGTTTGCCA...___CAGTGCCCAGCAAGGACCATGGGCCATGtTTTCCTCTGCTCAGCCT . 05CO014 ENSG00000250603.1 ENSG00000245937.8 -/- -/- chr5:127857614 chr5:127966928 exon/splice-site exon/splice-site duplication 1 2 0 9 84 medium . . . . . ENSG00000250603.1 ENSG00000245937.8 ENST00000507509.1 ENST00000501652.5 upstream downstream . ^(CAAAG)ACTGAAGATTTCTGAAGAAGAAGCAATCATGCCTCAATAAAGCAACCTAAGAAACCCTGCCTGAGTTTCCAGCCTGCTGGCCCATCCTGCAGATTTAGAACTGAAAACTACATCAACTAATTTGCCTGCATTCCCACTTTACCAGCCAGCCCTACAGCTTTCAAACTTGCCAGCCCCTACAGTCAT|GAATGGATTTTCTTCTGTGTATTGCTGACACGAACAGGAGACGGAAATACTGAGTAGAAGAGGGCGGTTCCCTGGCTAAGGCCCCACCCTCAAGCCTGGATACCCGCGGCCCTAAATGAGAAGAGGCGTTTCTGTTTaGGGCCCAAAAAGTTGCTTTTTGA(CCCACCACGCCCCCTATCCTGCCCCCATATAAACCCCAAACCCCAACCTCCAGAGCATACCAGCAGGTGAGGAGATACGAGGCAAGCCGACTGACGGCAAAACGACGTAGCAGAGAAAGAGAGAAGAGGAGGGACGTCTGGACACCGAGAGATGTTTGGCTCGGGGCAGTCAGAGCGGAGTCCAGCCCCTGGGCGGCCCAACTCCAGGGGAAGATCACCTTCCCACTTCATCCATCCCCACCCTTCCAGCTCCCCATCCATCCTGCTGAAAGCCATTTCCACCACTCAATAAAACCTCGCATTCATCCTTCAAGTCCGTGTGTGACCCGATTTTTCCTGGATTCTGGAAAAGAGCTCGGAATACAGAAAGCTGTCCCCTGGTCCTTTGCCCTTGTGAAAAAGCAGAAGGTCCATTGAGCTGGTTAACACTCCAGCTGTCTGTGGTGGCCAAGCTGAAAGAGCTTTGTAACACTGGGGTTGCAGGCACCCACCTCTAGACGCTACCGCAGAGCCAGAGCCCAAAGCCCTCACCCCGGCCTCTGCACTTGCCCATCTGCGTGCTCCCCCTCTCGCAAGGGGTTTCTGCAGAGGGGGCTACTGAACAGGTGAGCCACACCCCTGTCGCACGCCCTGCAAGGGGAATCAGGGAACTCTTCCGTTTCATTGCTTTGACCACATCCTATAAATCTTGTTCTCCTTGTCTTTCAGCTCCAATTTGTTTATACATTCAGTTTTTACTTTTGACTTTACTCATGATTTATTATAGAAAGATGTTTAACAATTTTCAAGCAAATGGAATAATTTTTGCTCCTCTTTCGTTGTTAATTTATTATTCATTGGAGTTAGAAAATTGTTGCTAAAATAAATTCTGCATTTTGAA)$ . 05CO014 ENSG00000168297.16 ENSG00000136068.15 +/+ +/+ chr3:58390659 chr3:58149850 CDS/splice-site CDS/splice-site duplication 1 1 0 28 204 medium in-frame . PX_domain(100%)|Filamin/ABP280_repeat(100%) . . ENSG00000168297.16 ENSG00000136068.15 ENST00000383716.7 ENST00000358537.7 downstream upstream . ^(GTGTTGACAGCGGCGGCGGTGGAACCGGGCGGGCGGCGGGAGTCGGCGCCTCGGGTTCCTACCTCGCGTCCCTAGGCGGCGGCGGCCGGGCGTCCCGGGATGGCCTTCATGGAGAAGCCGCCAGCCGGCAAGGTGCTGCTGGACGACACGGTGCCGCTGACAGCAGCCATCGAGGCGAGCCAGAGCCTGCAGTCCCACACG___GAATATATTATTCGAGTGCAAAGAGGAATTTCTGTGGAAAACAGCTGGCAG___ATTGTTAGAAGATACAGTGACTTTGATTTGCTTAACAACAGCTTACAG___ATTGCAGGCCTAAGTCTACCTCTTCCTCCCAAAAAATTGATTGGTAACATGGATCGTGAATTCATAGCTGAAAGGCAGAAAGGTCTTCAGAACTATCTCAACGTGATCACAACAAATCATAT)CTTGTCTAATTGTGAGCTGGTTAAGAAGTTTTTAGATCCAAACAACTATTCCGCAAACTATACTG___AGATTGCCTTGCAACAGGTTTCCATGTTCTTCCGATCAGAACCAAAGTGGGAGGTGGTGGAACCTTTGAAAGACATAG|GTTATGGTGGCATATCCTTGGCGGTGGAAGGCCCCAGCAAAGTGGACATCCAGACGGAGGACCTGGAAGATGGCACCTGCAAAGTCTCCTACTTCCCTACCGTGCCTGGGGTTTATATCGTCTCCACCAAATTCGCTGACGAGCACGTGCCTG___GGAGCCCATTTACCGTGAAGATCAGTGG(GGAGGGAAGAGTCAAAGAGAGCATCACCCGCACCAGTCGGGCCCCGTCCGTGGCCACTGTCGGGAGCATTTGTGACCTGAACCTGAAAATCCCAG___AAATCAACAGCAGTGATATGTCGGCCCACGTCACCAGCCCCTCTGGCCGTGTGACTGAGGCAGAGATTGTGCCCATGGGGAAGAACTCACACTGCGTCCGGTTTGTGCCCCAGGAGATGGGCGTGCACACGGTCAGCGTCAAGTACCGTGGGCAGCACGTCACCGGCAGCCCCTTCCAGTTCACCGTGGGGCCACTTGGTGAAGGAGGCGCCCACAAGGTGCGGGCAGGAGGCCCTGGCCTGGAGAGAGGAGAAGCGGGAGTCCCAG___CTGAGTTCAGCATTTGGACCCGGGAAGCAGGCGCTGGAGGCCTCTCCATCGCTGTTGAGGGCCCCAGTAAGGCCGAGATTACATTCGATGACCATAAAAATGGGTCGTGCGGTGTATCTTATATTGCCCAAGAGCCTG___GTAACTACGAGGTGTCCATCAAGTTCAATGATGAGCACATCCCGGAAAGCCCCTACCTGGTGCCGGTCATCGCACCCTCCGACGACGCCCGCCGCCTCACTGTTATGAGCCTTCAG___GAATCGGGATTAAAAGTTAACCAGCCAGCATCCTTTGCTATAAGGTTGAATGGCGCAAAAGGCAAGATTGATGCAAAGGTGCACAGCCCCTCTGGAGCCGTGGAGGAGTGCCACGTGTCTGAGCTGGAGCCAG___ATAAGTATGCTGTTCGCTTCATCCCTCATGAGAATGGTGTCCACACCATCGATGTCAAGTTCAATGGGAGCCACGTGGTTGGAAGCCCCTTCAAAGTGCGCGTTGGGGAGCCTGGACAAGCGGGGAACCCTGCCCTGGTGTCCGCCTATGGCACGGGACTCGAAGGGGGCACCACAG___GTATCCAGTCGGAATTCTTTATTAACACCACCCGAGCAGGTCCAGGGACATTATCCGTCACCATCGAAGGCCCATCCAAGGTTAAAATGGATTGCCAGGAAACACCTGAAGGGTACAAAGTCATGTACACCCCCATGGCTCCTGGTAACTACCTGATCAGCGTCAAATACGGTGGGCCCAACCACATCGTGGGCAGTCCCTTCAAGGCCAAGGTGACAG___GCCAGCGTCTAGTTAGCCCTGGCTCAGCCAACGAGACCTCATCCATCCTGGTGGAGTCAGTGACCAGGTCGTCTACAGAGACCTGCTATAGCGCCATTCCCAAGGCATCCTCGGACGCCAGCAAGGTGACCTCTAAGGGGGCAGGGCTCTCAAAGGCCTTTGTGGGCCAGAAGAGTTCCTTCCTGGTGGACTGCAGCAAAGCTG___GCTCCAACATGCTGCTGATCGGGGTCCATGGGCCCACCACCCCCTGCGAGGAGGTCTCCATGAAGCATGTAGGCAACCAGCAATACAACGTCACATACGTCGTCAAGGAGAGGGGCGATTATGTGCTGGCTGTGAAGTGGGGGGAGGAACACATCCCTGGCAGCCCTTTTCATGTCACAGTGCCTTAAAACAGTTTTCTCAAATCCTGGAGAGAGTTCTTGTGGTTGCTTTTGTTGCTTGTTTGTAATTCATTTTATACAAAGCCCTCCAGCCTGTTTGTGGGGCTGAAACCCCATCCCTAAAATATTGCTGTTGTAAAATGCCTTCAGAAATAAGTCCTAGACTGGACTCTTGAGGGACATATTGGAGAATCTTAAGAAATGCAAGCTTGTTCAGGGGGCTGAGAAGATCCTGAGTACACTAGGTGCAAACCAGAACTCTTGGTGGAACAGACCAGCCACTGCAGCAGACAGACCAGGAACACAATGAGACTGACATTTCAAAAAAACAAAACTGGCTAGCCTGAGCTGCTGGTTCACTCTTCAGCATTTATGAAACAAGGCTAGGGGAAGATGGGCAGAGAAAAAGGGGACACCTAGTTTGGTTGTCATTTGGCAAAGGAGATGACTTAAAATCCGCTTAATCTCTTCCAGTGTCCGTGTTAATGTATTTGGCTATTAGATCACTAGCACTGCTTTACCGCTCCTCATCGCCAACACCCCCATGCTCTGTGGCCTTCTTACACTTCTCAGAGGGCAGAGTGGCAGCCGGGCACCCTACAGAAACTCAGAGGGCAGAGTGGCAGCCAGGCCCACATGTCTCTCAAGTACCTGTCCCCTCGCTCTGGTGATTATTTCTTGCAGAATCACCACACGAGACCATCCCGGCAGTCATGGTTTTGCTTTAGTTTTCCAAGTCCGTTTCAGTCCCTTCCTTGGTCTGAAGAAATTCTGCAGTGGCGAGCAGTTTCCCACTTGCCAAAGATCCCTTTTAACCAACACTAGCCCTTGTTTTTAACACACGCTCCAGCCCTTCATCAGCCTGGGCAGTCTTACCAAAATGTTTAAAGTGATCTCAGAGGGGCCCATGGATTAACGCCCTCATCCCAAGGTCCGTCCCATGACATAACACTCCACACCCGCCCCAGCCAACTTCATGGGTCACTTTTTCTGGAAAATAATGATCTGTACAGACAGGACAGAATGAAACTCCTGCGGGTCTTTGGCCTGAAAGTTGGGAATGGTTGGGGGAGAGAAGGGCAGCAGCTTATTGGTGGTCTTTTCACCATTGGCAGAAACAGTGAGAGCTGTGTGGTGCAGAAATCCAGAAATGAGGTGTAGGGAATTTTGCCTGCCTTCCTGCAGACCTGAGCTGGCTTTGGAATGAGGTTAAAGTGTCAGGGACGTTGCCTGAGCCCAAATGTGTAGTGTGGTCTGGGCAGGCAGACCTTTAGGTTTTGCTGCTTAGTCCTGAGGAAGTGGCCACTCTTGTGGCAGGTGTAGTATCTGGGGCGAGTGTTGGGGGTAAAAGCCCACCCTACAGAAAGTGGAACAGCCCGGAGCCTGATGTGAAAGGACCACGGGTGTTGTAAGCTGGGACACGGAAGCCAAACTGGAATCAAACGCCGACTGTAAATTGTATCTTATAACTTATTAAATAAAACATTTGCTCCGTAAA)$ MAFMEKPPAGKVLLDDTVPLTAAIEASQSLQSHTEYIIRVQRGISVENSWQIVRRYSDFDLLNNSLQIAGLSLPLPPKKLIGNMDREFIAERQKGLQNYLNVITTNHILSNCELVKKFLDPNNYSANYTEIALQQVSMFFRSEPKWEVVEPLKDI|gYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPVIAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTGIQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPNHIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP* 05CO015 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 11 16 4 33 45 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) GGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTAC(ACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO015 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 15 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),low_entropy(1),mismappers(1) CCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTG(GTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO015 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 4 0 166 28 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAG)CAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO015 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 23 65 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) AGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC----??AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO015 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 2 8 0 14 17 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream duplicates(1) GGCAGCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGC(CATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05CO015 ENSG00000159131.17 ENSG00000205758.12 -/- -/- chr21:33542065 chr21:33603537 5'UTR/splice-site CDS/splice-site duplication 1 8 0 92 88 high . . |Alcohol_dehydrogenase_GroES-like_domain(100%),Zinc-binding_dehydrogenase(100%) . . ENSG00000159131.17 ENSG00000205758.12 ENST00000381815.9 ENST00000290244.9 upstream downstream . ^(GG)GCCGACTTCCGGCGAGCGGGCAAGCGGGAACCAGGTGGCCACCCGGTGTCG|TTCATAAACCAGAAAAGGTCACATGGACGGAAGCAGCAGGAAGCATTCGGGATGGAGTGCGTGCCTATACAGCTCTGCATTATCTTTCTCATCTCTCTCCTGGAAAATCAGTGCTGATAATGGATGGAGCAAGT___GCATTTGGTACAATAGCTATTCAGTTAGCACATCATA(GAGGAGCCAAAGTGATTTCAACAGCATGCAGCCTTGAAGATAAGCAGTGCCTTGAAAGATTCAGACCTCCCATAG___CCCGAGTGATTGATGTATCTAATGGGAAAGTTCATGTTGCTGAAAGCTGTTTGGAAGAAACAGGTGGCCTGGGAGTAGATATTGTCCTAGATGCTGGAG___TGAGATTATATAGTAAAGATGATGAACCAGCTGTAAAACTACAACTACTACCACATAAACATGATATCATCACACTTCTTGGTGTTGGAGGCCACTGGGTAACAACAGAAGAAAACCTTCAG___TTGGATCCTCCAGATAGCCACTGCCTTTTCCTCAAGGGAGCAACGTTAGCTTTCCTGAATGATGAAGTTTGGAATTTGTCAAATGTACAACAGGGAAAATATCTTT___GTATCTTAAAGGATGTGATGGAGAAGTTATCAACTGGTGTTTTCAG___ACCTCAGTTGGATGAACCCATTCCACTGTATGAGGCAAAAGTTTCCATGGAAGCTGTTCAGAAAAATCAAGGAAGAAAAAAGCAAGTTGTTCAATTTTAATTTTCTTCTTTCTCAGACCTCAGTCGGATGAACATATTCCAGTATTTGAAGCCAGAATTTTCTTTGGAAATTGTTGAGAAAAACCAAGGAAGATAAAACAAGTTGCATTTTTAAGCACGTTTCTCTGCTAAGACAAGATGCTCAGTTGACACATTTGAAAAGTGTTTGAAAAATTCTTGTGCAAATGATCAAGATAATTCTATAATTAACATCTTAAGGGAATTTTTCTAAAAACCTTTTCATTGTTTCTATATATTTTGCCCCTGCTATAAAATTCCTTCCATGAAGAAAACTGCTGCTTTCAGCAAAAGTCACACTACTCTTGATAAAAGCTGTTGCAGGCCTTTGCTAAGCTATCAAAGTAACGTATTAATTTTGTATCAACTCCGTTCTCAACACCTTCCTTAAGTCTTTGCTGTCATAATTTAAGCATTTG)$ . 05CO015 ENSG00000188428.20 ENSG00000124802.12 -/- -/- chr6:8062534 chr6:8080030 CDS/splice-site CDS/splice-site duplication 5 2 0 43 314 medium in-frame . . . . ENSG00000188428.20 ENSG00000124802.12 ENST00000397457.7 ENST00000379715.10 upstream downstream . ^(GGAACTG)GTCGGGATGAGTGGCGGAGGGACAGAGACCCCTGTGGGTTGTGAGGCCGCCCCGGGCGGTGGCAGCAAGAAGAGGGACTCCCTGGGGACTGCGGGCTCAGCGCACCTCATTATCAAGG___ATCTTGGAGAAATTCATTCAAGGCTTTTGGATCACAGACCAGTTATTCAAGGTGAAACTCGTTATTTTGTAAAAGAATTTGAA|GTTGACCTGACAGTTCAAGAAAAGGAGAAATATCTTAATGTGTCTCGCTGGTTTTGTCACATTCAGCATTATCCAGGCATCAGGC(AACATCTGTCTAGTGTTGTCTTCATCAAGAACAGACTATATACTAATTCCCACTAGAAGCTGTCCATGCCATACAGAAGATCTATTAAAAATGTTTTAAATGGAAAATGTACTCTAGACCACAGGACTAATGTAAATTAATATACAGTCATTCATTATTTGTTGAAGTTGATAGAATTTTTGAAGTGTAAACTTGTGTCTGAATGTTTTATTTGTTCTTTAGCTGAAGTTTTGCAATTTTTATGTCAAAATTCAATTGCTATTAAACAAGTTGAGATCCAGTTATAAATTAACCTTGTTTTTAGTAGATGACATTTATTTCAATAAAAGTTGCAAATCGGGCTTAATCTTAAAATTGGTGGTCATTTCAATGGTTGACATATTTGGCTATTTATTAACCTCTCTTTCATATTCTAAAATTCATTTTCCCCTTATGGATATTTATGGTAGTTTGTTAAGAACTGATAAATTGTGCCAAGGAAGCCAAAAGGGAAGACAGATGGATTTGTTTTAAAATATTTATGTGAGCTAGTAAATGTGGTTGAAAAAATA)$ MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFE|VDLTVQEKEKYLNVSRWFCHIQHYPGIRQHLSSVVFIKNRLYTNSH* 05CO015 ENSG00000108384.15 ENSG00000057663.16 +/+ -/- chr17:58696857 chr6:106184872 CDS/splice-site 3'UTR translocation 0 2 0 57 57 medium out-of-frame . Rad51(100%)| . . ENSG00000108384.15 ENSG00000057663.16 ENST00000337432.9 ENST00000369076.8 downstream downstream . ^(GTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAG___AAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATG___TATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAG)GGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGA|TGGGGATTTTCCCCCTTGATGTTTTGACAGATTGAAGTGAGCTTTAGTGAGCAAAAGGATCAGAATGCAGGGAACACTAAGCTGTGATGAAGAAAGTGTGGTAAAAAGCCAGAGTAGTTTTATACAGAC(AAAACCAGTGTCAGGCCTTTGCAGTAGGCTTGAGTGAACTTCTGATCTAGATTTGAAAGTAAATTTTATGAAGACATTGCCCATTTTTACTTCCTCATTCATTATTGTACCAGCATCATAGCTTTATTACTCTAATCCCAGGTAAGTCAAGCCTACAATGCCCTAGAGGAAGAGTAAAACCAGAAATTCATGCTGGCTTAAATAATCTATTTTTGTTTCTTTTCATTTGAATATTTAAATTTTATGGTTTATTAAAAAATTAAATAAA)$ MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGd|gdfpp* 05CO015 ENSG00000172785.18 ENSG00000107104.19 -/- +/+ chr9:154709 chr9:523893 CDS/splice-site intron inversion 1 1 0 297 3 medium out-of-frame . CobW/HypB/UreG__nucleotide-binding_domain(100%)|Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),KN_motif(100%) . . ENSG00000172785.18 ENSG00000107104.19 ENST00000377400.8 . upstream upstream . ^(AAGGGGCGAGGCGCTTCTCGTCCAGAGCCCAGGTAATCCGGGCGGGATCAGCGAGCGTCGCGATGTGATGACGTCAGGCCCCGGGCAGGCCGGGAGTGGCGTGCTGGGCGTGCGCGGCTGCGGTACGGCGTGTTGGTCCCAGCGGTTCAGCTGAGGTAGGGACGTGCTGTAGGCCGGAATGTTACCGGCTGTTGGATCTGCGGATGAGGAGGAGGATCCTGCGGAGGAGGATTGTCCTGAATTGGTTCCCATTGAGACGACGCAAAGCGAGGAGGAGGAAAAGTCTGGCCTCGGCGCCAAGATCCCAGTCACAATTATCACCGGGTATTTAG___GTGCTGGGAAGACAACACTTCTGAACTATATTTTGACAGAGCAACATAGTAAAAGAGTAGCGGTCATTTTAAATGAATTTGGGGAAG___GAAGTGCGCTGGAGAAATCCTTAGCTGTCAGCCAAGGTGGAGAGCTCTATGAAGAGTGGCTGGAACTTAGAAACGGTTGCCTCTGCTGTTCAGTGAA___GGACAGTGGCCTTAGAGCTATTGAGAATTTGATGCAAAAGAAGGGGAAATTTGATTACATACTGTTAGAGACCACTGGATTAGCAGACCCTG___GTGCAGTGGCTTCTATGTTTTGGGTTGATGCTGAATTAGGGA)GTGATATTTATCTTGATG___GTATCATAACTATTGTGGATTCAAAATATGGATTAAAA___CATTTAACAGAAGAGAAACCTGATGGCCTTATCAATGAAGCTACTAG___ACAAGTTGCTTTGGCAGATGCCATTCTCATTAATAAAACAGACCTGGTTCCAGAAGAAGATGTAAAGAAATTAAGAACGACAATTAG|CATATCCCAGTAGAATACGGGCTTTTCCAGGGCAGGAACCTTTAGCTGGTTTGCTGGTTGGTGGTACATCAAGCTCCTAGAACGGAACTGGAAACGCAGAAGACACTTAAATAG___GGCTTTAAACACGAAGACCTGATTTGTTTGTGTAAATCGTTGGATGTAATCTTACAGAGGAC MLPAVGSADEEEDPAEEDCPELVPIETTQSEEEEKSGLGAKIPVTIITGYLGAGKTTLLNYILTEQHSKRVAVILNEFGEGSALEKSLAVSQGGELYEEWLELRNGCLCCSVKDSGLRAIENLMQKKGKFDYILLETTGLADPGAVASMFWVDAELGSDIYLDGIITIVDSKYGLKHLTEEKPDGLINEATRQVALADAILINKTDLVPEEDVKKLRTTIs|isq* 05CO020 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 15 0 39 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 low_entropy(2),mismatches(2) CGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCAcAAG(CGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO020 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 16 0 22 108 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismappers(2),mismatches(1) GTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCC(TGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO020 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 7 0 111 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 inconsistently_clipped(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACAT)CAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCtTTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTG...CCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGCATCATATCTCAGCAAGGCTAGAGGGGACTCTCAGCTTCGCCTTGCCCTCCTCTTTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO020 ENSG00000148120.16 ENSG00000158169.13 +/+ -/+ chr9:95005616 chr9:95192090 CDS/splice-site intron deletion/read-through/5'-5' 2 13 0 45 27 high out-of-frame . . . . ENSG00000148120.16 ENSG00000158169.13 ENST00000297979.9 . downstream upstream low_entropy(1),mismappers(1) ^(GTCTGCGGAAGTGGTGACCCGTGGGACGCGGCTGAGACAG___GAGACTGAAAGGAACCATAATTTGTGACATCAGTTGTTTTCTTTGATAAGCAGCTATTTATGATTCTGGAAGATTAAGGCAGATAGGAAACCCCATCTGAGATTTTAATAAATCCCTCAAACAATAAACCACATCATGGACATACAGCTGGACCCTGCCAGAGATGACCTGCCTCTCATGGCCAACACCAGCCACATACTTGTGAAGCACTATGTACTGGATTTGGATGTGGATTTTGAAAGTCAAGTCATTGAGGGGACCATAGTGCTTTTCCTCGAGGATGGAAACAGATTCAAGAAACAGAATAGCTCTATTGAGGAAGCCTGCCAATCAGAATCAAACAAAGCCTGCAAATTTGGGATGCCTGAACCCTGCCATATTCCCGTGACAAATGCAAGGACCTTCTCATCTGAAATGGAATATAATGATTTTGCAATCTGTAGTAAAGGTGAAAAAGATACTTCTGATAAAGATGGTAACCATGACAACCAGGAACATGCTTCTGGGATTTCTAGCTCAAAGTACTGCTGTGACACAGGGAATCATGGGAGTGAGGATTTTTTGCTAGTGTTGGACTGCTGTGATTTATCTGTGTTAAAAGTCGAGGAGGTGGATGTTGCTGCTGTGCCAGGTCTGGAAAAATTTACAAGGTCTCCTGAGCTCACGGTTGTTTCTGAGGAGTTCAGGAATCAGATTGTACGTGAACTTGTGACTTTGCCTGCAAATCGTTGGAGGGAGCAGTTAGACTATTACGCTCGCTGCAGCCAGGCTCCTGGCTGTGGGGAACTCCTCTTTGACACTGACACTTGGAGCTTGCAGATAAGGAAGACAGGGGCTCAGACAGCTACTGACTTTCCTCATGCTATCAGGATATGGTACAAAACTAAACCTGAAGGGCGATCGGTTACATGGACCTCAGACCAGAGTGGCAG___GCCATGTGTTTATACTGTGGGATCTCCCATAAACAACAGGGCCCTTTTTCCATGCCAGGAGCCACCCGTTGCCATGTCAACATGGCAGGCTACAGTTCGAGCAGCTGCATCTTTTGTTGTTTTAATGAGTGGGGAAAATTCTGCCAAACCAACGCAGCTTTGGGAAG___AGTGCTCAAGCTGGTATTACTATGTAACTATGCCAATGCCAGCCTCCACCTTCACAATTGCAGTGGGATGCTGGACAGAAATGAAGATGGAGACATGGTCATCAAATGATTTGGCAACAGAGAGACCCTTCTCACCTTCTGAGGCCAACTTCAG___GCATGTTGGTGTTTGCAGTCACATGGAATACCCCTGCCGCTTCCAGAATGCTTCTGCCACCACCCAGGAGATCATTCCTCATCGGGTCTTTGCCCCTGTGTGCCTCACGGGTGCCTGCCAAGAGACCCTTCTGCGGCTGATCCCTCCTTGCCTCTCAGCAGCACATTCTGTTCTGGGAGCACACCCGTTCTCTCGGCTGGATGTTCTCATCGTCCCTGCCAACTTTCCAAGTCTGGGGATGGCCAG___ACCCAGTAAAGACAAAACTGGCCACACAAGTGACTCGGGAGCATCTGTTATCAAGCATGGACTTAATCCGGAGAAGATCTTCATGCAGGTGCATTATTTAAAG___GGCTACTTCCTTCTTCGGTTTCTTGCCAAAAGACTTGGAGATGAAACCTATTTTTCATTTTTAAGAAAATTTGTGCACACATTTCATGGACAGCTGATTCTTTCCCAG___GATTTCCTTCAAATGCTACTGGAGAACATTCCAGAAGAAAAAAG___GCTTGAGCTGTCTGTTGAAAACATCTACCAAGACTGGCTTGAGAGTTCCGGAATACCAAAG___CCGCTGCAGAGGGAGCGTCGCGCCGGGGCGG)AGTGCGGGCTTGCGCGGCAAGTGCGCGCCGAG___GTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAG|AATGAAGATGCAGGGAACAATGGGAGGAACACCTTGGATGTGATATCTAAAATCGATTCCCACGGTGCTTCAGCCATGTCAAGCTGGACAACTACATCTGCTGGGACCAACGACAGGAGGAGCAGGGACAACGACCAAGGACATCACCAGGT...___...GTGACCTGGTGGTAGTCACCTTCAC?TGTTCCCAGATTTGAG...___GTCAAGTCAGCTCAGCCAGAAATTGGCAGCCCAGCCTGGCTCAAAGGTGAGCAAGGAAGACCCTAAACCTCCACCTAAACTGGTCTATATCAGGGTGCCTGCCTTGGGAGGGGCA MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKGEKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCSQAPGCGELLFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPINNRALFPCQEPPVAMSTWQATVRAAASFVVLMSGENSAKPTQLWEECSSWYYYVTMPMPASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASATTQEIIPHRVFAPVCLTGACQETLLRLIPPCLSAAHSVLGAHPFSRLDVLIVPANFPSLGMARPSKDKTGHTSDSGASVIKHGLNPEKIFMQVHYLKGYFLLRFLAKRLGDETYFSFLRKFVHTFHGQLILSQDFLQMLLENIPEEKRLELSVENIYQDWLESSGIPKPLQRERRAGAECGLARQVRAEVTKWIGVNRRPRKRKRREKEEVFEK|nedagnngrntldviskidshgasamsswtttsagtndrrsrdndqghhq 05CO020 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 10 4 0 19 11 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . AAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTG(GAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO020 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 6 0 40 22 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* 05CO020 ENSG00000144455.14 ENSG00000235978.6 -/- -/- chr3:4376330 chr3:4814431 CDS/splice-site exon/splice-site duplication 4 1 0 113 6 high out-of-frame . Sulfatase-modifying_factor_enzyme_1(100%)| . . ENSG00000144455.14 ENSG00000235978.6 ENST00000272902.10 ENST00000441894.4 upstream downstream . ^(GGGTCACATGGCCCGCGGGACAACATGGCTGCGCCCGCACTAGGGCTGGTGTGTGGACGTTGCCCTGAGCTGGGTCTCGTCCTCTTGCTGCTGCTGCTCTCGCTGCTGTGTGGAGCGGCAGGGAGCCAGGAGGCCGGGACCGGTGCGGGCGCGGGGTCCCTTGCGGGTTCTTGCGGCTGCGGCACGCCCCAGCGGCCTGGCGCCCATGGCAGTTCGGCAGCCGCTCACCGATACTCGCGGGAGGCTAACGCTCCGGGCCCCGTACCCGGAGAGCGGCAACTCGCGCACTCAAAG___ATGGTCCCCATCCCTGCTGGAGTATTTACAATGGGCACAGATGATCCTCAGATAAAGCAGGATGGGGAAGCACCTGCGAGGAGAGTTACTATTGATGCCTTTTACATGGATGCCTATGAAGTCAGTAATACTGAATTTGAGAAGTTTGTGAACTCAACTGGCTATTTGACAGAG___GCTGAGAAGTTTGGCGACTCCTTTGTCTTTGAAGGCATGTTGAGTGAGCAAGTGAAGACCAATATTCAACAGGCA___GTTGCAGCTGCTCCCTGGTGGTTACCTGTGAAAGGCGCTAACTGGAGACACCCAGAAGGGCCTGACTCTACTATTCTGCACAG___GCCGGATCATCCAGTTCTCCATGTGTCCTGGAATGATGCGGTTGCCTACTGCACTTGGGCAGGGAAGCGGCTGCCCACGGAAGCTGAGTGGGAATACAGCTGTCGAGGAGGCCTGCATAATAG___ACTTTTCCCCTGGGGCAACAAACTGCAGCCCAAAGGCCAGCATTATGCCAACATTTGGCAGGGCGAGTTTCCGGTGACCAACACTGGTGAGGATGGCTTCCA)AGGAACTGCGCCT___GTTGATGCCTTCCCTCCCAATGGTTATGGCTTATACAACATAGTGGGGAACGCATGGGAATGGACTTCAGACTGGTGGACTGTTCATCATTCTGTTGAAGAAACGCTTAACCCA___AAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGG|GGACCAGCTCTGTGAACACGGCAAGTAACAACAGAGAGAAAACGTGAGGAGAAAAGAGAGACCGGGATTTTGAAATCCTGTTTCCTGAATGCCATCTCACC(AGGCACACGAAAGAATAAAATTAAGGAATCAAGA)$ MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHR|gpal* 05CO020 ENSG00000189362.12 ENSG00000111962.8 -/- +/- chr2:190510361 chr6:148927126 CDS/splice-site intron translocation/5'-5' 1 1 0 13 1 high out-of-frame . . . . ENSG00000189362.12 ENSG00000111962.8 ENST00000409150.8 . upstream downstream . ^(ACTTCCGCTCCTCGCAGCGGAGCCGGTCCCCTAGGGCTCGGGTCGCACGGAGCTGACCCCTAACGAAATGGGGCCGCGCCAAGGGCGGTGGTGGCTGCTGCTCTGGCTGCCGCCCCTGGCCACACTGCCCGTGCGCGGGGAGGCGGCGGCGGCAGCGTTATCAG___TTCGTAGGTGTAAAGCTTTGAAGGAAAAAGATTTAATTAGAACGTCTGAGTCAGACTGTTACTGCTACAATCAAAATTCCCAAGTGGAGTGGAAATACATATGGTCAACTATGCAG___GTGAAAATTACCAGTCCAGGCCTGTTCAGAATTGTATATATCGCAGAAAGACATAATTGCCAATATCCAGAAAACATTCTATCTTTTATCAAATGTGTGATTCATAACTTTTGGATACCAAAGGAATCTAACGAAATAACCATAATCATCAATCCATACAGGGAGACTGTGTGCTTCTCTGTGGAGCCTGTCAAGAAGATATTTAACTATATGATACATGTGAATCGAAACA___TCATGGATTTCAAACTCTTCCTTGTGTTTGTGGCAGGAGTTTTTCTTTTCTTTTATGCAAGGACCCTGAGTCA___AAGCCCTACTTTCTATTACTCCTCGGGAACTGTGCTAGGTGTTCTAATGACATTAGTCTTTGTCTTGCTGTTGGTGAAAAGATTCATTCCGAAG___TATAGCACCTTTTGGGCTCTAATGGTTGGTTGTTGGTTTGCCTCAGTTTATATTGTATGCCAGTTGATGGAAGATCTGAAGTGGCTGTGGTATGAAAACAGGATATATGTATTAG___GCTATGTCTTGATAGTTGGATTTTTCAGCTTTGTTGTTTGTTACAAGCATGGGCCCCTTGCAGACGACAGGAGCAGAAGTCTTCTGATGTGGATGCTGCGACTCCTCTCCCTGGTTCTGGTCTATGCTGGTGTGGCCGTGCCTCAGTTTGCCTATGCAGCCATAATCCTCCTCATGTCCTCCTGGAGTCTGCACTACCCACTGAGAGCATGCAGTTATATGAGGTG___GAAAATGGAGCAGTGGTTTACATCAAAAGAGCTGGTGGTGAAATATCTTACGGAAGACGAGTACAGGGAGCAAGCTGATGCTGA)AACGAACAGTGCTCTGGAGGAGCTACGCCGGGCCTGCCGAAAACCCGACTTTCCCTCATGGCTGGTCGTCTCCAGACTCCACACTCCTAGCAA|CTCAATACATAACGGGGACGTAAGGACAACTGAATGATGGATGAATTCTTACCATGCTCCAGCAGTAATGTCTTCAGAGAATATTTTAAATTCAGAAG___ACACCACGCCTAGAGTTGCAGAAGCAATCCTGTGACCATGAGGCAAGAAGCATGAGGGCCATGCTACAAG MGPRQGRWWLLLWLPPLATLPVRGEAAAAALSVRRCKALKEKDLIRTSESDCYCYNQNSQVEWKYIWSTMQVKITSPGLFRIVYIAERHNCQYPENILSFIKCVIHNFWIPKESNEITIIINPYRETVCFSVEPVKKIFNYMIHVNRNIMDFKLFLVFVAGVFLFFYARTLSQSPTFYYSSGTVLGVLMTLVFVLLLVKRFIPKYSTFWALMVGCWFASVYIVCQLMEDLKWLWYENRIYVLGYVLIVGFFSFVVCYKHGPLADDRSRSLLMWMLRLLSLVLVYAGVAVPQFAYAAIILLMSSWSLHYPLRACSYMRWKMEQWFTSKELVVKYLTEDEYREQADAETNSALEELRRACRKPDFPSWLVVSRLHTPSn|sihngdvrtte* 05CO020 ENSG00000157800.18 ENSG00000006459.11 -/- -/- chr7:140364408 chr7:140139190 CDS/splice-site CDS/splice-site deletion/read-through 2 1 0 49 18 medium out-of-frame . Major_Facilitator_Superfamily(100%)|JmjC_domain__hydroxylase(100%),PHD-finger(100%) . . ENSG00000157800.18 ENSG00000006459.11 ENST00000326232.14 ENST00000397560.7 upstream downstream . ^(AAACCCTGGTCGCACCGCCAGGGGTGAGCTGGCGGCGGGGGAGGCGGGCAGCGGAGCCAAGCTGACCCGGCGAGCGGAGCCGGGGCTGGAGAGCGGCGACCACTGCGGATCTCGG___AAGGAAGAAATGATGTAAATCACTCATCCAAACCTTAAGGTCAAAGGTGAGAAGGAAGGTCAGGAAGAACATGGCCTGGCCAAATGTTTTTCAAAGAGGGTCTCTGCTGTCCCAGTTCAGCCATCATCATGTTGTAGTGTTCCTGCTCACTTTCTTCAG___TTATTCGTTGCTCCATGCTTCACGAAAAACATTTAGCAATGTCAAAGTCAGTATCTCTGAGCAGTGGACCCCAAGTGCTTTTAACACGTCAGTTGAGCTGCCTGTGGAG___ATCTGGAGCAGCAACCATTTGTTCCCCA)GTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTG___GGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTG|CTGTGTTGGAGTAGAAGAACATCATGCTGTTGACATTGACCTGTATCACTGTCCCAACTGTGCAGTTTTACATGGTTCCTCCTTGA___TGAAAAAAAGGAGGAACTGGCACAGACATG(ACTACACAGAAATTGATGATGGTTCCAAACCAGTGCAAGCTGGAACTAGAACTTTCATTAAGGAATTACGCTCTCGAGTCTTCCCAAG___TGCCGATGAAATAATTATAAAGATGCATGGCAGCCAGCTGACACAAAGATATCTGGAGAAACATGGATTTGATGTCCCTATTATGGTCCCAAAATTAGATGATCTAGGACTCAGGCTCCCTTCACCTACATTTTCTGTGATGGATGTGGAACGTTATGTAG___GTGGTGACAAAGTGATAGATGTCATTGATGTGGCGAGGCAGGCAGACAGCAAAATGACACTTCACAATTATGTTAAATACTTCATGAATCCTAACAGACCAAAAGTGTTAAATGTGATCAGCCTTGAATTTTCAGATACAAA___GATGTCTGAATTGGTGGAGGTCCCTGATATAGCCAAAAAACTTTCCTGGGTGGAAAATTATTGGCCAGATGATTCAGTCTTTCCCAAGCCATTTGTTCAGAAATATTGCTTAATGGGAGTTCAAGACAGCTATACAGATTTCCACATTGACTTCGGTGGAACTTCAGTCTGGTACCATGTCCTCTGG___GGTGAGAAGATTTTTTATTTAATAAAGCCAACAGATGAAAATTTGGCACGTTATGAATCTTGGAGTTCATCTGTGACCCAGAGTGAGGTGTTCTTTGGAGATAAGGTGGATAAATGCTACAAATGTGTGGTAAAGCAGGGACATACCTTATTTGTTCCTACAG___GGTGGATCCATGCTGTGCTCACTTCTCAGGACTGTATGGCTTTTGGGGGGAACTTCCTGCACAACCTTAACATTGGCATGCAGCTCAG___GTGTTATGAGATGGAGAAAAGGCTAAAAACACCAGATCTTTTCAAATTCCCTTTCTTTGAAGCCATATGTTGGTTTGTAGCCAAAAACTTGCTGGAAACCCTGAAAG___AACTGAGAGAAGATGGTTTCCAGCCTCAAACTTACCTAGTACAGGGAGTGAAAGCACTGCATACTGCTTTAAAATTATGGATGAAAAAAGAA___CTTGTATCTGAACATGCCTTTGAAATTCCAGACAATGTTAGACCTGGACACCTTATTAAAGAACTTTCTAAAGTAATTCGAGCAATAGAG___GAGGAAAACGGCAAACCAGTTAAATCTCAGGGAATTCCTATTGTGTGTCCAGTTTCACGATCCTCAAATGAAGCAACTTCCCCATACCATTCCCGAAGAAAGATGAGGAAACTTCGAGATCATAATGTCCGAACTCCTTCTAACCTAGACATCCTAGAGCTCCACACAAGGGAGGTCCTCAAAAGATTAGAGATGTGTCCATGGGAAGAG___GACATCTTGAGCTCTAAACTGAATGGAAAATTCAACAAACATCTCCAACCATCCTCCACAGTACCTGAATGGAGAGCGAAAGATAATGATCTACGATTACTGCTGACAAATGGAAGAATAATTAA___AGATGAAAGGCAGCCCTTTGCAGATCAAAGTCTTTATACAGCAGATAGTGAAAATGAAGAGGATAAAAGAAGGACAAAAAAGGCAAAAATGAAGATAGAAGAGAGTTCAGGAGTAGAGGGAGTGGAACATGAAGAATCTCAAAAACCACTGAATG___GGTTTTTTACACGTGTGAAATCAGAACTCAGGAGTAGATCATCAGGATATTCTGATATTTCTGAGTCAGAAGACTCCGGACCCGAGTGCACTGCACTG___AAAAGTATCTTTACCACTGAAGAGTCTGAAAGTTCAGGTGATGAAAAGAAACAAGAAATAACATCCAACTTTAAGGAGGAATCTAATGTGATGAGGAACTTCCTTCAAAAGAGCCAGAAGCCATCTAGAAGTGAAATTCCAATTAAAAG___GGAATGTCCTACCTCGACGAGCACAGAGGAAGAAGCTATTCAGGGCATGCTGTCTATGGCAGGGTTGCACTATTCCACGTGTTTACAAAGGCAAATACAAAGCACAGACTGCAGTGGTGAAAGAAACTCTCTCCAGGATCCCAGCAGCTGCCATGGCAGTAACCATGAGGTTAGGCAGTTGTATCGCTATGATAAACCAGTGGAATGTG___GATACCATGTCAAGACTGAAGATCCAGACTTGAGGACTTCCTCCTGGATTAAACAGTTTGATACTTCCAGATTTCATCCTCAG___GATCTAAGTAGAAGCCAGAAATGCATCAGAAAGGAAGGTTCATCAGAAATTAGTCAGAGGGTACAAAGTAGGAATTATGTGGACAGCAGCGGCTCAAGCCTTCAGAATGGAAAGTATATGCAGAATTCAAACCTGACTTCGGGGGCGTGCCAGATAAGTAATGGCAGTCTAAGCCCAGAAAGGCCAGTTGGTGAAACTTCCTTCTCGGTGCCCCTTCACCCCACCAAGAGACCGGCATCAAATCCACCACCTATCAGCAACCAGGCAACAAAAG___GTAAACGTCCAAAAAAAGGAATGGCAACAGCCAAACAACGTCTTGGGAAGATCCTTAAGTTGAACAGAAATGGCCATGCACGTTTCTTTGTGTGACAGAGCTGCTGTTGCAGCCATTCTTCCCTTTGGAGACCAGTCTAGGGGTGCAGGAGCCTGGAGCTTCCGCTGTCCCCCTGCCTGGAGCAGTTTGTGTGTATAGTAAGAACACTGCCCGAAGAACAGAATGAACCTGATGCTGCATTTTCACTGTGCCACACCCACTCAGCAATAACCATTTTGGACCTGGTGGGGGAGAGGAAGAAGGAGGGTAGAACCTTAAAAAGAGACCTTGAACTGGAAAGGGTCTCTTGTCAGGGCTTGAATTTTATTTTGTTGTTGGTAGTGTCTTGATGTATTTTCAGTGGTAGGGTAAAGAATTATCAATAATTTATTTAACAGATTTTTTTTTAAAGTTAACAGCTTTTAAATTCTTTTTTTAAAGCTATTTATTTGGAAGATTTCTGGAGAAATATCTCACTAATTTAGATGTAAGAATGTGAAGGTTTTTAAATTATTTTTGATAGTGTGTGTGTTACATGTGGGGAAGGGCCACAGTAACAGTAACTAGTCTGGACTCTTAAATTTGATATTCAGGTTAAAGTCTTAAACAGGGATTTGATGCATTAATTATTTTAAATTAAGATGTATATGAAAATCATTTTATTTTATATATTTCATGTGTTTTTTATAAGCTATTAGCTTCGCTTTTGCTAACATCCAAGGTGCATACTGTTATCCAGGTTGATTACCTTATATCCCACCTTCCCTCTGCACTCCCCATCATTTTGTGATGACCCAGTAAGACTCTTCTCTTTGCAGGGAAACACTTTCGTAGCCAATGTGTAAGAACTCCATGAAAGATCCCTCATTTCTCATTTCGTTTGACATTGTGATTTTCTTCTCAACATTAAAAAAAATAGGCTTTTGCATTTTCATTTCTGCTGATGATATCTGGGTCCCAAAGAGAGCAGCTTTAATATATTTTTCCTACTTGTGGGAAAAGTATTATAAGTTTGGTTAAATTGTCATGTTTATAGTTTTTCCAAGTACATTTGTAACTACAGCAGGCCTTCTTCGTACTGCTGCTGTTGGACAACAGGACTGGCACCTGCTGCAGAGGTTATACCTTATGATACTTTTATGCTCCATACCTGATTTGTTGGGAAATGTTATTTAGGATATTCAAATCTGCATCATAAGCCGTAATATAATAGGATTAATACTACATTAAGTTGTATAGAAGCAAGCATGTTGGAATAGATCTTTTGTGTGTATTTACTTTTTTTATTTCTTAATTTTCTAAAGAATTACTTAAGATATGGATTTGGAGTAAAATGGGTGCTTTTGGCAGTTTCTTCCATCTATCCTAACCTGACCAGTACATATTGAGGTTAAGTATCTGGTTAAACTTTAAGGTATTCATTTATCTCCTTTATGTATGATTTTTACTAAATGCCAGTTTTCATTTGCTTATAGTAGCTTCTATTTTCCCTTTTTTCCATCCATGGCATAAAAATAAGTGATTTCTGGGGGTGGGGCAGAAATGTTCCCAAGTCTGACAATAGAGCATTTTACAAATTCCTACAAAGAAAATATAGGCAAATAGATAAAATTTATTTTTATGGAGAAGAAATATGGCCATATTATGGATTTGTCTTTTTTTTACTCAGCAAGATAGCAGGACTTACCCTTCTCTATTAAGTATCACTTGAATTGCTAAGAAGAAAAAAGTCTGTACCATCATCTTTCATGGTTGCATTCAAATGTATATTTTCAAAGAGAAATACTTCTTGTGTCCCCATTCCAAAATGTCATGGGATAAATATGAAATAGTTTATGAAGTAGCCTTTCTGGTTCAGAGTGACTGGACCAAAGTCTGAATCTTATCTGGGTATCAGGAAAAAGAATTTTTATGGAAATCCTTAGTGTCTATAAACAACCCGTGTAAACCCTGTCTACACTATGCCAAAACCAGTGGAAAGATGGGTAGAGTCATCTTATCTCAGGATGTCAAAAATCTGGGTTTGACTGATTCCCCTACCTTCCCACACAGTATATTCTTGTGATTTTTGCTTTTCTGTAGATCCTGAGTCGGTGTTACAATAGTCATGTTTTTATTTTGGGTTAAGAAATACGAGGTGTAAGAGCTATAATTTCCTTTTCGTGTTATATCATGATCTGGGTTTTCTTTTTTCCTTTACGTTTTTCACAGCTCTTGAGTATTTTCTATTTTTTTCTTTAGTCACAAAAATTAAAATTAAACTTTATTTTTATGAATTAAAATGAAATTTAATTTATTTTTATGAATTAAAATTGTGGCCAGTATCCACTGTGTCCTTAGGCTGAGAAGTACTAATTTGGAGTAGCCCGTGTGTGGAATTCTAAAGTGAAGGTACTGTGGATTCATTTTTAGTAGTTTTAGCCCCTTAATAAGTGGCTAAGTTAGAAAACTTTCAGCGAGGTAATAGAACCACTTGAATAGAATCCATGTGTCTTTTTCTGAATTGGTGAAAATTCGGCCACTGATCCAGTGACTCCTGGTCAAACGTCTTATAACATTACTGGCCATAATGCATCCCTTTATCTCATGGAAATGGCTGAACTTTGTGGTAGCTGCTGCGAGTACCTGGGCTTAACAGTAATAGAGAACCTCATTTATACCATACAGACACAGCAACTTAGGAAGACAGCACTGATAGCATTTAGCTAGTTGTAACCAAATACAAATATGTAAAATTGAGAATTATGATTAACATATGCAACTTTAGTAATAGGAATAGATGATAATTTTCCTGTATTGTTTCAAATAAGTGACTGTTCAGCTGGGATCCATTGGATTATAATTTACAATGTCACATAATATTATGCTTTTCAATATTGATGAGTGATGTAAACAATATAAAGTTGGCAGTTTGTAGTAGTTCAGTATCCTAGAAATACATTGAACTTCATAAGTATCAGTTCATTTTTAAGCATACAGAATTGAAGATTCTGACTGAAATCATAAACTCAGAGGAAACAAGCCCATCTTTATCACTAATTACTTAGCTTGAATACTTTTCTATTTTTAAATAATCCTAATTATTGCCTTTTCAATTATAGTCTACTGTATTTATTTATATGGGATCAACAGGTATTTATCAAACATCTACTGTGTGCCCAGCACTACCTAGTACTGTTGGGGAACATCAATTTGCAGTTGTGGTCTCTGCCCTTGAAGGTATCTTCTCCAGGAAATTAGCAGTATTATTTTCACTTCTAAGCAAACATGAGCAAAAGAGGACCTGTTCATTAAAAAACATGCTGACTTTTTTAGTTTCAACTGAGATATGCCACTGTAGAAGTGAAAGTAATTTCACAATTAAAGAAATGCTTCAACTTGGTAATTAATATGGTCATACAGGGACTTGGTGTAGCATGCAAGGAAGCAGAAGACCTGGGCTTTTGTCGAAGTTCTGCCATTTAGGTATCAGCTGTGTAACCTTGAATAAGTCACTTAACTCTTTCTCTTAGTTTTCTCATTTGTAAATTTGGATTAAAGTGTTTATTATGATAATCAATTAAGAAAATCTCTTAACACTTCATACATACAGAGAACTTATCATTAAGTTAAAACTGGCAATTAATGCACCTTTATATATATTTTTAAATGAAAACTAATACTATTCATGATGTTTATTTTATATCAAATATATGCCCAGGGCATGCTACTTTAAAAATCCGAGGAATCTCCAACAAGGTGCTGGATTAAAATCAGATTTCGTGCTTGAAGTGGAAGAAAAATGAAGTTGTTTATGGATAAGAGAGTGAGAATGTGTATCCTCAAGTACGTTAAGATGATTTAACTGAAAGATGGCTTTAGGTTTTTCTTGAAGAATTAGGAAAGTACCATCCCCACAGATTCAGCATACTCTTCAGGTACTAGATAAAGGTGAAGGAAGTCATGGAATTAAAATGACTTAGCAACTCCCCAGGGAACTTGTGGGGAGAATGAGGTGGTTAGAAAGGTGAGAATGCACAAAGACAGCTCTGGGTTGGGTACCAACAGTTTGCTTGGTAGAAAGAAACCAGTGTAGGAAAGGAGACGCCACCAGACATCTTCAACAGACAAGATTCTTTCTGCCTTTTTCAAAAGATGCTCTCTGCAGCAGTAAGACTATAGATAGAGTTGATTGGAATATCATGTGACCCAGTATGCTACTGCTAGGCATAATTATCAAAAATTCATTTTTCTCATTAAATATTGTTAATTGCTCGCCACATAAAGAGAAGCTAGAGCTCACCAGTCTTGGTGGTGTCCTAGACCTTCCTCTAAAGCAGTCTTGGGAAGCTGGATCATCAGATCTTTAGCCTAGACAGAGTGTCGCTGGTAAATAAAGGAGACACAGGTAACCCAGAGTGGACAGTGATTTGCGTGGGGAGACACAGTGGATCTGGGGCCTCTGATACTTTGCTTCCTAAAACAGCCCCCAGTTTTCGGCTTGCCCTATGAGATGATGTTCATGTGCTTCCTTGAAACCAGGTGGAAAGAAAGGGGAAGAATTAATTTTCTCATTCTGTTGCTGTTGAACGTAATGTAATCTTAATACTGTAGCCTTCCTAGAAGCCCTTCCCTCTTTTTCATGCTGTAAAGTCAAATATTTGATATCCTTAACATAAATTTTAAAAATTAAGGTCATTAGGAAGCAAATGTCTATTTCCAAAGCAATGAGCTTGTTGTGACTGTGATTTTATTCTTCTATAGTATTTTTTTCCTCATTTTAACTGAGAGGAGAAAATAATACTCTTTTGCAATATCCTTAGGTTCTCCCCTTCCCCCTGGTGCCCCTTCTAGTGTCTTAAGACTTTGTCTTAACAAGTATAACATTACATTTTGTTGTTAAAACCTTTCGAAACTGTATTCAGTGATTCTTCCAAGTTTATCTGCTCTGCACTATTTCACTAATAAACCCTGGCTACCACGTAGCCCTTGATCTCCAAGTAGTTTACCTATGCAAGACCTGTGACACTCTGAATTCACTTCTCTTTCTTTCAGAAAGTAGTCATAAATGGAGCTTAATTATAAAGGTAAAACTTGTCTCCAACCAGTTTCATTTTGGCCATTTCTTTTTCAAAATGTCAGCTGTTTTCCTCCAAGATTTTTCACCAAAACAATGATCATAAGTGCTGGAATATATAATACTTTGCAGGCATAAAATAACCCAGACATACTCTCATATTTCTTTGGTGTATTTTGGTTGGTAAAACTTACCAGCATTAAATGTAAAATATAATGAGGAGTTAATTCCTTACCTAGAACTATTTCTTCCTTTTAAGATTCATAAGTAACCTTTTATTTTTACAGAGCTACGTATAACTTCCACATTACAGTCAGGGACCTGAGGTGTAACTTACTAAGTGAACCCCAAGGTTATTTTATCTTGCAAAAGAAACCTAAACCAAACTAAGGGCCTTACAGTTTATGGTTAGACTGAATCAAAAGCTATAACCTCAATTTTTCCAAAAACAGCTTCTGACTGCAAAAGCAAGTCATACAGTTGTTAGGTATGAAATAGCACTGATCAGGAAATGCATCTTCGCAGATGGTATTTCCTTCAGAAAAGACTTTTCTACTTTTAATATAAATTAAGCCATAACAGTTTCATGCTGTGGAAAGAGGGTGAAAAGGTTCATTTTAAGAGATTATATAATATGAACTTTCACATTTACTGTGAAATGTCTAACTTTGCCAGTGCTTCAGCAAGTTTTTTTGGGGGGTGATGGGGAGGGGTAGTATTGGTTTTAGAGGTTTCAAATCTGTGAACTTTGGAGAGGGGACAGTTGTTGGCTCTGGTATTTACTAGTTTTGTAGTAACGTTTTGCTAGCCTGACTGACTTTTCTTACTGGTTTTTATGCCCACGGTCCGAGGGGACTGTTCTTCTTGTTGGGGGTGTCTGCGGAATAGCGTCTCGTCTTGTTTGTATAGGCAGTCAATGTGTGTGACATGTGTGTCCTTTCAGTCCGGAAGCCCACTGTGTGACAATGGCGTGGGGTGTGGCTGGGAGGTGGGGTGCTGAAGCTTGAAGAGCATTTCTTTGCTGATTCATAACAGTATTTCCCATCTTTTGCCTGCAGGCAGGGAAAGTGTACAGTATTTATTTTGTTTCTGTTTTACTTTAAATTTGTAAGTCTTTAAGTAGCTTACATTGATTATTATAGGGGAGGACAAGTGACTTGTTTAAAGTTGTATTTAGTATTCTTTCCAATTTCTGTATTTTAAAATATTGAAATTAAAATTGTATTACTTCTGTTTTGATTTTTTTAGCACTTAGTGTATTTTTTGCTCATTTTGTTTGAAAGTATAAATGTTGAAAATTGTATAAAATGCGTCCTTGAAAGAAAAAGAATCTGAATTCTATATCCAA)$ MAWPNVFQRGSLLSQFSHHHVVVFLLTFFSYSLLHASRKTFSNVKVSISEQWTPSAFNTSVELPVEIWSSNHLFPSAEKATLFLGTLDTIFLFSYAVGLFISGIVGDRLNLRWVLSFGMCSSALV|lcwsrrtscc* 05CO020 ENSG00000153982.11 ENSG00000167447.12 +/+ +/+ chr17:59220751 chr17:59212341 CDS/splice-site CDS/splice-site duplication 0 2 0 7 43 medium in-frame . Glycerophosphoryl_diester_phosphodiesterase_family(100%)| . . ENSG00000153982.11 ENSG00000167447.12 ENST00000284116.9 ENST00000543872.6 downstream upstream . ^(GAGCCGACCTCGAGCAGCCGCCGCCGCCGCCGTCGTTGCTACTGCCGCAGCGGAGTTCAGAGGGCCCGGAGGTGGGAGACTTCCCACACGGTGACTGAGATGTCGTCCACTGCGGCTTTTTACCTTCTCTCTACGCTAGGAGGATACTTGGTGACCTCATTCTTGTTGCTT)AAATACCCGACCTTGCTGCACCAGAGAAAGAAGCAGCGATTCCTCAGTAAACACATCTCTCACCGCGGAG|GAGAAAAACCAGAGGCTGATAGAAATCCGCCTGTGCTATATCACAATAGCCGAGCTCGATCTACTGGTGCTTGCAACTGTGGAAGGAAACAAGCACCTCGAGATGATCCCTTTGATATCAAAGCAGCCAATTATGACTTCTATCAG___CTTCTGGAAGAAAAGTGTTGTGGAAAATTGGATCATATCAATTTCCCAGTATTTGAA(CCAAGTACTCCAGATCCTGCTCCTGCTAAAAATGAATCCTCTCCTGCTCCTCCAGATTCGGATGCTGATAAACTTAAAGAAAAAGAACCTCAAACCCAAGGAGAGAGCACGAGCCTGAGTTTAGCTTTGAGTTTGGGCCAATCCACAGATAGCTTAGGTACCTATCCAGCTGATCCACAAGCAGGAGGAGATAATCCAGAAGTTCATGGTCAAGTAGAAGTGAAAACTGAGAAGAGGCCAAACTTCGTTGATCGACAGGCATCCACAGTTGAGTATCTCCCAGGCATGCTACATTCAAATTGCCCTAAAGGTCTCCTACCCAAATTCTCCAGCTGGTCTTTGGTTAAACTAGGCCCTGCTAAGTCTTATAACTTTCATACAGGTTTGGACCAACAGGGCTTTATTCCAGGAACAAATTATCTTATGCCTTGGGACATTGTCATCAGGACTAGAGCTGAAGATGAAGGAGACTTAGACACAAACTCTTGGCCTGCTCCAAATAAAGCTATTCCTGGAAAGAGAAGTGCGGTTGTAATGGGAAGAGGAAGACGGCGAGATGACATAGCTCGAGCTTTTGTGGGCTTTGAATATGAAGACTCTCGAGGTCGGAGATTCATGTGCTCTGGGCCTGACAAAGTAATGAAAGTAATGGGAAGTGGGCCAAAGGAATCAGCTTTAAAAGCCCTAAATAGTGACATGCCCTTATATATTCTGTCATCCTCTCAAGGTAGAGGGCTGAAACCTCATTATGCTCAACTTATGAGGCTTTTTGTTGTGGTTCCTGATGCTCCTTTGCAGATAATACTAATGCCTCAG___GTTCAGCCAGGCCCACCACCATGTCCGGTATTCTACCCAGAAAAACAAGAAATCACCCTTCCACCTGATGGCCTTTGGGTTTTGAGATTTCCTTATGCATATGTGACTGAGAGAGGACCTTGTTTCCCCCCTAAGGAAAATGTGCAGTTAATGAGCTACAAGGTGCTCCGTGGGGTTCTTAAGGCAGTAACACAATAAGTGTTTTCCAGCCAGTTCAATCCTATACTTGAGCTGGTTTTTGTTTTTGGTATTTGTGGCTGTGTTTTTGGTATGTGTTTACTGTGTTTTCCCAAATCCAAAATGTGTTTTGGTTACAGGAGTTCAGTATTTGGAAACTAATTTGTTCTACTTTTTCATTATATTGTTGATATTTATTGTAAACGTGACTACAACTTTCTAATAAAGATTGGTTGTTCTAGAAAAGAATATAAAATA)$ MSSTAAFYLLSTLGGYLVTSFLLLKYPTLLHQRKKQRFLSKHISHRG|gEKPEADRNPPVLYHNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDPAPAKNESSPAPPDSDADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNPEVHGQVEVKTEKRPNFVDRQASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFHTGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRDDIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGLKPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAYVTERGPCFPPKENVQLMSYKVLRGVLKAVTQ* 05CO026 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 11 0 31 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),mismappers(2),mismatches(1) GACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGA(CCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO026 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 7 1 33 22 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCAT)TGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO026 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 2 0 125 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 inconsistently_clipped(1),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO026 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 4 6 1 23 12 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismatches(1) CTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCC(TACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO028 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 8 0 21 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 . AGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTG?CCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAG(GTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO028 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 7 8 0 37 67 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream inconsistently_clipped(1) AGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAG(TGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 05CO028 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 5 0 23 13 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___)CTGAAgTAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO028 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 2 0 253 31 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 mismatches(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACT)CAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO028 ENSG00000266965.1(29885),ENSG00000141429.13(27076) ENSG00000141429.13 ./+ +/+ chr18:35627484 chr18:35654560 intergenic 5'UTR deletion/read-through 2 9 0 15 44 medium . . |Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%) . . . ENSG00000141429.13 . ENST00000269195.5 downstream upstream . GCCGCCGCCGCCGCCGCGCGCCTAGCGAG___GAGATGTGGGACATGTGGATTTGGGATATGAATTCATTTGAAAAACCACTTTGG|GGTATGAA?GTGATTTCTGATGAAACTGGATTGGAATAATTTTCATGATCTTTGTATATTTATATATATATATTTTTAAATTTTGCATTTGACTTAAAGTGCCATGAGAAAATTTGCATACTGCAAGGTGGTCCTAGCCACCTCCTTGATTTGGGTACTCTTGGATATGTTCCTGCTGCTTTACTTCAGTGAATGCAACAAATGTGATGAAAAAAAGGAGAGAGGACTTCCTGCTGGAGATG___TTCTAGAGCCAGTACAAAAGCCTCATGAAGGTCCTGGAGAAATGGGGAAACC(AGTCGTCATTCCTAAAGAGGATCAAGAAAAGATGAAAGAGATGTTTAAAATCAATCAGTTCAATTTAATGGCAAGTGAGATGATTGCACTCAACAGATCTTTACCAGATGTTAGGTTAGAAGG___GTGTAAAACAAAGGTGTATCCAGATAATCTTCCTACAACAAGTGTGGTGATTGTTTTCCACAATGAGGCTTGGAGCACACTTCTGCGAACTGTCCATAGTGTCATTAATCGCTCACCAAGACACATGATAGAAGAAATTGTTCTAGTAGATGATGCCAGTGAAAGAG___ACTTTTTGAAAAGGCCTTTAGAGAGTTATGTGAAAAAACTAAAAGTACCAGTTCATGTAATTCGAATGGAACAACGTTCTGGATTGATCAGAGCTAGATTAAAAGGAGCTGCTGTGTCTAAAGGCCAAGTGATCACCTTCCTGGATGCCCATTGTGAGTGTACAGTGGGATGGCTGGAGCCTCTCTTGGCCAGGATCAAACATGACAG___GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG___GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG___ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG___GTGTTACAAAGGTAGATTATGGAGATATATCGTCAAGAGTTGGTCTAAGACACAAACTACAATGCAAACCTTTTTCCTGGTACCTAGAGAATATATATCCTGATTCTCAAATTCCACGTCACTATTTCTCATTGGGAGAG___ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG___GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG___AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACTGAGACAATGAAAAAAAATCAACAAAATATGCTTTCTGGAGAACTGTACCTTTTATGGTTTGCTTGCACATCAGTAGTTTCTGCTGAACGTGCTGTCATAATGAAGAGATTTCCAAGATTTTTTTTCCTGATTAGAACTGGTAGCCAGTATATTAAATATTGATATAAAAATAAAAGAACTGGAACCAGATTCAGAATCATGAAAACAACATTTTTACAACAACAAAAAAACTATATTAAACAGGGTTTAAAGGAAATTAAAACAGAACTATGAGAAGTACAATTTGTTATAGTATAGTATCAAATTTCTATATAGATTTTATACCTCAGTGGGGAAAAATAACTGATTCCAATGACATTCATTTTGTTTTCATCTGTGATAGTCATGGATGCTTTTATTTTCCTTGGGGTGCTGAAATTGAGCTGAAAAAAAAAGGCTCTTTGAATATAGTTTTAATTTCTCTCTACAGTTTTTTTTGTTTGGTTTGTGGGCTGTTGGAATTGTAATTTTTAATTGCCTTCTAAAAAATGGAAATTTAACAATGTCTGATCTCAGCTGAACAAATTAGATGTTTCAGTTGCTCTTGGGTCAACTGGCTTACAGATTTACATGTGCACACACACACAAATTTCTTATCACATTTTCGACTTCTTCACTTGACCTAACTGATTATGCGAAATACCCAAGATTCATGCTACTGTACCACAGATTTGTTTTCACAGCAATAAATCTTCAGTTCTTTGTTTATGATTCCACTTAACAAAAGGCCTGCAGAAGTGATTTATTATTTGGGTATTTGGAGATAATACATTTGATGGTTTTTTGGAAAACCTTTTTCACTCCATACTCAGATATGCTTCATTGTCAAATGCATATTTAGATTAGATTATTGAATTGTAATGTTTATCTGCTGCTTTTTTTAAATAAAATTTGACTGAAAATGTTTAATTGGCATTTTTTAATGACTTAGCCAAAGAAGTGCAGCTATTATTCCATATTAATAGGCTTGCATTTCTTTTCCTAAATCTTATTTAGGCTAAATCAGTTTTATTTTTCTCTGATTTTTTTTAATACCACAGAATCACCTGAGTGTCAATTGAAAGTTGTCAATTAAAAGGTAACCTTTTAATCTCGTAGGAGGAATCTCATTAAGACATTTTTCCTGATATGTAGAGCAGTCTGTTGGCAAAAATGCATATATTTTCTTTCATATTTGTAAAATTATATTTAATGGAATTCTTTTCTTTGATTATCAAGGACTTTCACTGCAGGCAGTGCTATTTCTTGTGCCTAAGAATGTTTCCAAAAGTCGCATCGCTAATGATATTTGCCAAGTTGAGTGTACACAAAGTTTCTCATATCCTGTTCAAGTTAATCAACATCAAGCACATGGGGATGCTTTAGGGTGAGTCTATAGTACAAAATGCATAAACCATGTCCCCAGGAAATTTGAAAGGAAGCAGGTGCTGAATGGAATTTTTTTCCTTTTCCATGAGCTGTGTTAATTCTATCTCCAGTAGGCCTAATGCTTGAATAAGCAAGATGTCTAATCAATAAATTATTTTCATGCTCAGAATTTCAGGTTTTTGTACTCCAGCATAGCTTGGTCTTATTTCTTACTGTATGAAAGCTTAACAGCAATGTGATTTAAGGTTTTGTTTTAAATGGGAGATGTAAGTGATTTAATTCATGGGTACTTTTAGAACCTGATAGATAATCCCATTGCCTTTATTTTTCTAATTAAAGAATTCCTAAATACTTTGAAAATACAAAATATTCCTGAATA)$ . 05CO029 ENSG00000083857.14 ENSG00000248574.1 -/- +/- chr4:186706563 chr4:175576158 CDS/splice-site exon deletion/5'-5' 166 144 5 423 517 high out-of-frame . Cadherin_domain(100%)| . . ENSG00000083857.14 ENSG00000248574.1 ENST00000441802.7 . upstream downstream duplicates(26),mismatches(5) ^(GAGCGTGAGGCGCCGGCGCCGAGCTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCG___ATTCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCGAGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAGGTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGTCAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGTACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAGTAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAACGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGATTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAAAATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTCTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTTTCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAACAGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCGTGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTGTTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGAAGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAG)GATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAAGACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCgGAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAG|TAGCCTCCGATCACGCAAGGAACCCTGTCCTGCACATACACATCTTCTGGACAATTATGCAAGTTCTGTTTCACTGCTCTGGAAGATCACATCCATTGTCCTGTTCTCTGCACACCTTACCTGATGGGATGAACTGCAACGAAGCCCCAAAGCACAAGCAGCCCCAGGTTTCAGAGTGCAGTTCGCCAAACCACGTGAATCTTTTTTACACAACTGTAAAGAACCACAGTCATAATCCTCATTTTCTTCAACCACACCATTCATACAGCATGGCTTTGTGAAGATGACCTCAGGATTTGGTGAATTGTATAAGTACCTCTTTAATTTTTTTTTAACAGTGGTGGCCACTAACTTAGCATAACTGTAACTGCAACTGCT MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLLQQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQLVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDAgRDGEIRYSIRDGSGVGVFKIGEET|vasdharnpvlhihifwtimqvlfhcsgrshplscslhtlpdgmncneapkhkqpqvsecsspnhvnlfyttvknhshnphflqphhsysmal* 05CO029 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 16 11 0 244 46 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(2),mismappers(1),mismatches(2) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGT)GAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCC...GGCtTtGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGtCAGGAGAATCACTTGAACCCGGGAGGCAGGGGTTGCGGTGAGCCGAGATCACACCATTGCACTCC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 05CO029 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 17 0 52 29 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCA)TTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO029 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 8 1 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 low_entropy(2),mismatches(1) ACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCC(GACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO029 ENSG00000083857.14 ENSG00000251174.1 -/- +/- chr4:186706563 chr4:175495027 CDS/splice-site exon deletion/5'-5' 2 19 1 423 60 high out-of-frame . Cadherin_domain(100%)| . . ENSG00000083857.14 ENSG00000251174.1 ENST00000441802.7 . upstream downstream mismatches(1) ^(GAGCGTGAGGCGCCGGCGCCGAGCTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCG___ATTCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCGAGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAGGTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGTCAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGTACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAGTAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAACGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGATTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAAAATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTCTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTTTCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAACAGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCGTGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTGTTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGAAGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAAGACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAA)GTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCgGAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAG|GGCGATGCTCAAGCGGATTCAAGTAATCCTTGAGGATTCTGCGCACCGCACTCTCATCCTGTCCCTGTCTACGCATCCGCTCTGCCACCCACTCAACACTACGCTGATACTTCTTTGACGTGATGATAGGCATGTTTGTCTTCATATCTTTCCATTTAGCAACCAATTTAGGATCTGAAACTGTGATGGTTG MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLLQQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQLVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDAgRDGEIRYSIRDGSGVGVFKIGEET|grcssgfk* 05CO029 ENSG00000126351.13 ENSG00000279199.1(5736),ENSG00000188895.12(793) +/+ ./+ chr17:40077608 chr17:40121178 CDS/splice-site intergenic deletion/read-through 6 8 1 142 29 high out-of-frame . Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000126351.13 . ENST00000394121.8 . downstream upstream mismappers(1) ^(AGCAGATTGTTGGGGGAAATGGCTGGTGACAGAGAATAGAAAGAGCCTATATGGAGAAGGGTGACGTTGGAAAAGGGAGGCAGTGGATCGGTATTGATGTTAGAAATGAGAGGGGAGGGAGGTAACAGGGAATGAACCCCCACAAGGATGAAAAACGTAAGATGATTGAAGTTAAAAGGACATCAGGGGTCACCTGCCCAGCCCTCGCAGCTGAAGCTTGAGGAAGCTCTGCCCCCGACAGCAGTGGCGATTTGTCAAG___GGATCTCTGGACAGGACAAGACTCCGAAGCTACTCCCCCAGCACACAGCCCGGGACCCACAAACCCAGCTTGCCCCCAGCCCTCCCACCTGCCACTCCCTGGCCCCTCCCACCGCCCGCCCCCCTTGGGGCGCAGGGCATGGTGTGAAAGGCCAAGTGCTGAGGCGGGTATCATGGGTGCTGTGCCCTAGGGCCTGGGTGGCAGGGGGTGGGTGGCCTGTGGGTGTGCCGGGGGGGCCAGTGTGCCCACCCCAGTCTCTTGGCGTGCTGGAGGGCATCCTGGATGGAATTGAAGTGAAT)GGAACAGAAGCCAAGCAAGGTGGAGTGTGGGTCAGACCCAGAGGAGAACAG___TGCCAGGTCACCAGATGGAAAGCGAAAAAGAAAGAACGGCCAATGTTCCCTGAAAACCAGCATGTCAG___GGTATATCCCTAGTTACCTGGACAAAGACGAGCAGTGTGTCGTGTGTGGGGACAAGGCAACTGGTTATCACTACCGCTGTATCACTTGTGAGGGCTGCAAG|TCCTTCAGGAGCCTCCCGAAGATGCTAGGAGTCGTTTAAGAAGGCTGGAAGATGGCCGTTGGGAAGGAACTGTTGGTAGCTGGCAATACTTCATCCCAAGGAGGCGGTGGCAATAGCTCCCTGGGCAGCAGACATCATGGATTTTCCTCCCTCTGGGAACCAGAGGTCCC MEQKPSKVECGSDPEENSARSPDGKRKRKNGQCSLKTSMSGYIPSYLDKDEQCVVCGDKATGYHYRCITCEGCK|sfrslpkmlgvv* 05CO029 ENSG00000148737.17 ENSG00000137251.16(36595),ENSG00000213335.4(58432) +/+ ./- chr10:113040126 chr6:54426737 CDS/splice-site intergenic translocation 6 1 0 18 5 high out-of-frame . N-terminal_CTNNB1_binding(100%)| . . ENSG00000148737.17 . ENST00000536810.5 . downstream downstream mismatches(1) ^(AATAATCTCCGCTCCCAGACTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAATCCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCCCCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTCCCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGGGGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTGAACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAGAGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAG___GCGGAAAGACGGCCTCCGCCTCGCTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAG___CGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCCTTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAA)CGGATCGCTCTCGCCCACCGCCCGAACC___TATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCCCGGTCCCCATCACCGGCACACATTGTC|ATTTAAAATACACCAAAATGCACTCACAGAAAAAAAATGATTCAGGCTGAAAGAGAAACTTTTGTGATTATAGCAAATGCCCTCAAGCAAAAAAAAAAAAGAAAAAAAGTTAAAAAGGTTTATAAATGaAAAAGCAAGAAAAAGAAAAAAAGATGAATAAAGTCATAC MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIV|i* 05CO029 ENSG00000083857.14 ENSG00000251174.1(59439),ENSG00000248574.1(19429) -/- ./- chr4:186706563 chr4:175555439 CDS/splice-site intergenic deletion 3 1 0 423 10 high out-of-frame . Cadherin_domain(100%)| . . ENSG00000083857.14 . ENST00000441802.7 . upstream downstream mismappers(1) ^(GAGCGTGAGGCGCCGGCGCCGAGCTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCG___ATTCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCGAGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAGGTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGTCAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGTACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAGTAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAACGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGATTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAAAATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTCTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTTTCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAACAGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCGTGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTGTTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGAAGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAAGACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCAC)CCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCgGAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAG|GAAGAAGAGCTGAGCAAAGAGGAAAAAGCCCCTTATAAAACCATCAAATCTCATGAGAACTCACTGACTTCACAAGAACAGCAGTATGGGG MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLLQQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQLVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDAgRDGEIRYSIRDGSGVGVFKIGEET|grraeqrgkspl* 05CO029 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 9 7 0 1211 21 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream mismatches(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTA)CAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAGATAATCG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 05CO029 ENSG00000126351.13 ENSG00000126368.6(5610),ENSG00000279199.1(7016) +/+ ./+ chr17:40077608 chr17:40106199 CDS/splice-site intergenic deletion/read-through 2 5 0 142 10 medium out-of-frame . Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000126351.13 . ENST00000394121.8 . downstream upstream . ^(AGCAGATTGTTGGGGGAAATGGCTGGTGACAGAGAATAGAAAGAGCCTATATGGAGAAGGGTGACGTTGGAAAAGGGAGGCAGTGGATCGGTATTGATGTTAGAAATGAGAGGGGAGGGAGGTAACAGGGAATGAACCCCCACAAGGATGAAAAACGTAAGATGATTGAAGTTAAAAGGACATCAGGGGTCACCTGCCCAGCCCTCGCAGCTGAAGCTTGAGGAAGCTCTGCCCCCGACAGCAGTGGCGATTTGTCAAG___GGATCTCTGGACAGGACAAGACTCCGAAGCTACTCCCCCAGCACACAGCCCGGGACCCACAAACCCAGCTTGCCCCCAGCCCTCCCACCTGCCACTCCCTGGCCCCTCCCACCGCCCGCCCCCCTTGGGGCGCAGGGCATGGTGTGAAAGGCCAAGTGCTGAGGCGGGTATCATGGGTGCTGTGCCCTAGGGCCTGGGTGGCAGGGGGTGGGTGGCCTGTGGGTGTGCCGGGGGGGCCAGTGTGCCCACCCCAGTCTCTTGGCGTGCTGGAGGGCATCCTGGATGGAATTGAAGTGAATGGAACAGAAGCCAAGCAAGGTGGAGTGTGGGTCAGACCCAGAGGAGAACAG___TGCCAGGTCAC)CAGATGGAAAGCGAAAAAGAAAGAACGGCCAATGTTCCCTGAAAACCAGCATGTCAG___GGTATATCCCTAGTTACCTGGACAAAGACGAGCAGTGTGTCGTGTGTGGGGACAAGGCAACTGGTTATCACTACCGCTGTATCACTTGTGAGGGCTGCAAG|GAGCTGTATTAAGAAGATTGGTTGAGGGAGCGTGTGGAAGGCCACCAAGGACCAACAAAAGTTGTGTCCAAAGCCTTAAGGAAACAGCATCCCACTTCCCCATTTACCTGCTTGAGCAACGTGCACCTCTAAAACCAGCCCTTCCGAAAGCCACTGTCCcGG MEQKPSKVECGSDPEENSARSPDGKRKRKNGQCSLKTSMSGYIPSYLDKDEQCVVCGDKATGYHYRCITCEGCK|ely* 05CO029 ENSG00000083857.14 ENSG00000249945.2 -/- -/- chr4:186706563 chr4:175466694 CDS/splice-site exon/splice-site deletion 0 3 0 423 4 medium out-of-frame . Cadherin_domain(100%)| . . ENSG00000083857.14 ENSG00000249945.2 ENST00000441802.7 ENST00000664617.1 upstream downstream . ^(GAGCGTGAGGCGCCGGCGCCGAGCTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCG___ATTCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCGAGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAGGTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGTCAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGTACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAGTAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAACGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGATTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAAAATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTCTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTTTCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAACAGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCGTGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTGTTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGAAGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAAGACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCAGAAGAGATG)GGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAG|GGACGCGCATGAAATTTGGTGCCGTGACTCAGATTGGGGGACCTCCCTTGGGAGATCCATCCCCTGTCCTCCTGTTCTTTGCTCCGTGAGAAAGATCCACCTATGACCACAGGTCCTCAGACCAACCAGCTCAAGAAACATCTCACCAATTTCAAATCCG(___ATCTTCTTGGCTTAGCGACTGAAGACTGACGCTGCGGATCGCCTCGGAAGCCCCCTAGACCATCACGGACGCCGAGCTTCGGGTAACTCTCACAGTGGAAG___AATATTTTCAATCCATGGATGTGGAACTCACAGATGTGGAGGACGGACTATAGATACAAACTGGTTAGTGCCTCACATGCTGAACAGAACGAATGCAAGATAACATAACTTCATAGTATGTGAGCTCTTCTCAGATAGTTTATTAAAAAGACATACATAGATGCTTTCCTTAATATATTTAACAACCCCAAGGCTAGTCTGTCAAATAAAAAAAAAATGAAAAGGACTCACAGTCATTTGTTTTATTTCTGAAGTTAAACAAAAAATAAAATTCTAAGGTCCACCAACCATCTGAATGAACTCCTCCTCTCAGCTACGGGCATTCCTGAGTTAACCTGAAAATCCAGTTCAGGTTATGATGACAAAGGGGGTTGGACATGCCTCACTATACCCTCCAGCATTAACATTAACACAGACCTTAAGTCTGATAAGAAACGTTTGCAATCTATTTTCTGTGAAGCCTGCTGGAGGCTTCATCTGCATAATAAAACCTTGGTCTCTACAACCCCTTATTTTAACCCAGATATTCCTTTCTACTGACAATAACTCTTTCAAACAAATGTCAGTCAGGAAACATTTAAATCTGTCTATGACCTGGAAGCTCCCCACTATTGAGTTGTCCTGCCCTTCCAGATGGAACCAATGTAAGTAAATCTTCCAGGTATTGATTGATATCTCATGTCTCCCTAAAATGTATAAAAGCAGGCTGTACCCTGGCCACCTTGGGCACATATTGTTGGGACCTCCTGAGGGTGTCACTGGCGTGTCCTTAACTTTGTCAAAATAAAC)$ MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLLQQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQLVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVGVFKIGEET|gtrmkfgavtqiggpplgdpspvllffap* 05CO029 ENSG00000275778.2 ENSG00000079387.14 -/- -/- chr12:11095698 chr12:48074793 intron CDS/splice-site duplication 2 0 0 8 34 medium out-of-frame . |Ulp1_protease_family__C-terminal_catalytic_domain(100%) . . ENSG00000275778.2 ENSG00000079387.14 ENST00000536668.2 ENST00000549518.6 upstream downstream . ^(TGCTGGCCCCGGAGGCCGTTAGCTTAGTCATGGCTCTAAATATGTACCTGCAATCGGATGTTGAGGATCACCGAGCCCGCGACGTAGAAGTACGGGAAGTTCATGCGCAGCTGCCAGGCCAGCTCG)AAGAAGGCGAGCAGGGTGCGGGAGAGCCCCTTGCAGAAGACGCCGTACGAG___AGTTGGATTCTCACTCTGTTGTCCACGCTGGAGTTCAGTGGTAGGATCATGGCTTACTGCAGTCTGGAACTCCTGGGCTCAAACCATCCTCCCACCTCAGCCTT|ACAGTTCAAGAAGAAGAAAGAGAGATTTACAGACAGCTGCTACAGATGGTCACAGGGAAACAGTTTACTATAGCCAAACCCACCACACATTTTCCTTTACACCT___GTCTCGAT(GTCTTAGTTCCAGTAAAAATACTTTGAAAGACTCACTGTTTAAAAATGGAAACTCTTGTGCATCTCAGATCATTGGCTCTGATACTTCATCATCTGGATCTGCCAGCATTTTAACTAACCAGGAACAGCTGTCCCACAGTGTATATTCCCTATCTTCTTATACCCCAGATGTTGCATTTGGATCCAAAGATTCTGGTACTCTTCATCATCCCCATCATCACCACTCTGTTCCACATCAGCCAGATAACTTAGCAGCTTCAAATACACAATCTGAAG___GATCAGACTCTGTGATTTTACTGAAAGTGAAAGATTCCCAGACTCCAACTCCCAG___TTCTACTTTCTTCCAGGCAGAGCTGTGGATCAAAGAATT___AACTAGTGTTTATGATTCTCGAGCACGAGAAAGATTGCGCCAGATTGAAGAACAGAAGGCATTGGCCTTACAGCTTCAAAACCAG___AGATTGCAGGAGCGGGAACATTCAGTACATGATTCAGTAGAACTACATCTTCGTGTACCTCTTGAAAAGGAGATTCCTGTTACTGTTGTCCAAGAAACACAAAAAAAAGGTCATAAATTAACTGATAGTGAAGATGAATTTCCTGAAATTACAGAG___GAAATGGAGAAAGAAATAAAGAATGTATTTCGTAATGGGAATCAGGATGAAGTTCTCAGTGAAGCATTTCGCCTGACCATTACACGCAAAGATATTCAAACTCTAAACCATCTGAATTGGCTCAATGATGAG___ATCATCAATTTCTACATGAATATGCTGATGGAGCGAAGTAAAGAGAAGGGCTTGCCAAGTGTGCATGCATTTAATACCTTTTTCTTCACTAAATTAAAAACGGCTGGTTATCAGGCAGTGAAACGTTGGACAAAGAAAGTAGATGTATTTTCTGTTGACATTCTTTTGGTGCCCATTCACCTGGGAGTACACTGGTGTCTAGCT___GTTGTGGACTTTAGAAAGAAGAATATTACCTATTACGACTCCATGGGTGGGATAAACAATGAAGCCTGCAGAATACTCTT___GCAATACCTAAAGCAAGAAAGCATTGACAAGAAAAGGAAAGAGTTTGACACCAATGGCTGGCAGCTTTTCAGCAAGAAAAGCCAG___GAGATTCCTCAGCAGATGAATGGAAGTGACTGTGGGATGTTTGCCTGCAAATATGCTGACTGTATTACCAAAGACAGACCAATCAACTTCACACAG___CAACACATGCCATACTTCCGGAAGCGGATGGTCTGGGAGATCCTCCACCGAAAACTCTTGTGAAGACTGTCTCACTTAGCAGACCTTGACCATGTGGGGGACCAGCTCTTTGTTGTCTACAGCCAGAGACCTTGGAAACAGCTGCTCCCAGCCCTCTGCTGTTGTAACACCCTTGATCCTGGACCAGGCCCTGGCGAGATGCATTCACAAGCACATCTGCCTTTCCTTTTGTATCTCAGATACTATTTTTGCAAAGAAACTTTGGTGCTGTGAAAGGGGTGAGGGACATCCCTAAGCTGAAGAGAGAGACTGCTTTTCACTTCTTCAGTTCTGCCATCTTGTTTTCAAAGGGCTCCAGCCTCACTCAGTCCCTAATTATGGGACTGAGAAAAGCTTGGAAAGAATCTTGGTTTCATATAAATTCTTGTTGTTAGGCCTTACTAAGAAGTAGGAAAGGGCATGGGCAAAAGGTAGGGATAAAAACCACCAGCATATACATGGACATACACACACACCCACACACACAAACACACACACACACACAATTTTCACGATGTATGGTCAGGAATGTGACTGTAAACTGGACTTTGGGGCCCAGGCATAAGTCCCTTCCTCCAGGACCTTTCCTATTTATATGTCCCTATACAAAATCCATCTGCTTTTATACGTAGCTGTTTTATCATCTGTAGCTTCATCCTATCCGGAGGCACAGCACATGAGCCCTGGACAGGTCCCAAAGTTCCAAGCAGTCCTTTCCGTGAAAGCAGGGGTTTGCATGTGCTACCAACACATGATACGGGGAAGACCCACCCAGGGAGCGGTTTCAGTGGCGCAACAAAGCACCACTTTTACTGTTGCCTACTTCTGACCAAGAAGAAAAAGGACCTTAGTATTTAGCATAAAATTCCAGCGCTGGATGAATGCAGATCTAGTTTGGTCTGTGGCTAGTTTAAATATGTTTCTAACCACAGAGAATTTCATATATATATACATATATATATACACATACATATATATATATATATATGTATGTATAAAATTTCACAGGGATATGCTTTTTTTTTTAAAGACTGAATGTGTTCACCATTTAGCCTGTAGATTTATTTCCATTTTCCAAATTCCAGCACACAGAGATCCCAGCCCCTATGAGTAGGGTGTTTGTGGACTACCTAATGGAATATTTTTGAGGCCTGGATGAACTTTGCCATATGGGTAGAGGTTACAGAGGGAGGTGATATTTTCAGCTAAAAAAAAAAACGGGTGGAGTTTGGACTGATCAACTTGAGATTTAAAAACTGCTATTCCTTTTGTTCTTTCTAGCATCTCTCCCCACCCTCTGAGAGCTCCTCAGGCTTAGATAGTGAAGTGATCAAATGCCAGTGTCATTTTGTACTTAAGTTCCAAAGTAGGAACATTTTATACTTTTTTCTGTATTGTAATAGGTAGTTTTGTATGAAATCTTTTCTCCTCTCCCGTTGTACCGCATTCTTTCCAGCATTGTGCTTTTTCCCTGGGCTTATTTGAAAATTTTACTGTTTTATACAAGCTCGTTTAGTACATTTTTCTATGTTTTACCACAAGTTACAATTTGAAAAGAAAACTATTTTTTTTAAATATTCCATTGTTAACTGAATGTTACTGTTTCCACTCCAGCAACTACATGTCCTCCCTTCAACTGCCTGCCTTTTGGGGAAAGACCACCTTTTGTGTGTTTGTTTTTTCTCTCTCTTTCTTTCCCTTTCTCTTTCTATCTCTCTTTATTTTTCTTTCTTTTTCTTTGTTTTTGAGTTTTCTATAGGAAATAAATAGCTTTCTATATATGAGTTGCTGGGGACCTTCACATTCTCTTTTAGAAAGCTGTGGCATGCAGTCTCATTGCAGGACTCCTGGAATATTGTCTGGTTCTTGGTATTTACTGTATGTAAGCAACAACTTGAAAGGTGGCAATATGGTGTCGATTTGGACTATGAATCAAAAGACCTTTTTCAGGTTCTTTCACTATTGTCTGGGGGACTCAGAACAAGATTGTTCTCTGTATTTATTGTTTGTCCATTTAGGTAACATCTGTCTTACCTTCCTCACAGACTTTGTACAGACCAAAGCAACAAATATTTATTGCCATGTATAGCAGAAAATGAAACATGCAACAAAAGCACTTTGAAAAATATATAAGGAATTGTTGAGCCTGTCTGAATTTGGGCCCCCTTTCTGACTAATGCAGTTTTGCACAAGGTAGAAGTTAGTGACCCTGAGACCATCTTACCACCCTGGACCTGGTCCAAATACAGACTTACACAGTGGACCATTCTTTCCTGAGCTAGCCAACAAGAGCAGGAGTAGTATCTGGAAACTTTCCCCTTTGTTTAGGGGTAGGCTTTGATGACCAGGAAAAAAAAAAAGGTATTTCTGCATTTTATGGCCCAAAGGCATGTTATTAATATCTTATGTAATTTACTTTAAACTAAATAAGACTTTTTTCTCCTGTGTT)$ 05CO032 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 10 0 29 21 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* 05CO032 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 5 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 . GACATCTTCATCACCAGCGTGGACGCCGCCACGcCCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO032 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 18 15 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(1),inconsistently_clipped(1),mismappers(2) GGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAG(AAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO032 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 11 4 0 1693 21 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream mismatches(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGC)CGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAGATAATCGAATTTAGTATTTTGAAAAGATTGAG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 05CO032 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 5 5 0 224 27 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___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACAT)GAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO032 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 2 1 0 29 25 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTT)CTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 05CO033 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 9 0 26 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 mismappers(1) CAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGGG...CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGC(CGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO033 ENSG00000166949.16 ENSG00000103599.20 +/+ +/+ chr15:67066360 chr15:67465127 CDS/splice-site CDS/splice-site deletion/read-through 12 6 0 58 28 high out-of-frame . MH1_domain(100%)| . . ENSG00000166949.16 ENSG00000103599.20 ENST00000327367.9 ENST00000335894.9 downstream upstream duplicates(2) ^(GAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCG)AGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAG|GTGTGGGCAACCGGCCTTAACCTCGCATATAGTGACCAGCTGGCCCTGACTCAACTCACCTTATACCTGACAAAtGGCCATCTGGATTGCAGTTTGAGCACCCTGGAAGTGCCCCGCTTTGTTCCAAAGGAAAGGAAGAAAACCAAATGCATGAGTGCGCTGTCAATGCCG___ATGCTGGCAACCAGTCGCTATGCAGTGATGAC(CACCCAGCTAAGACACAGCAATCTCTCACTGGTTTTCCACTATGTTTTTCTCCAGATCTGTAGGGCCCATGGCATTGGCTATGATGTTGAG___GAAAGGCAAGGAACTGTTTTTATATTATATGAGCACCTGAAGAGACACAAGTTGGGAATGTT___AACAATCGGCGAGGATCTCCAGGGGGTCCTCATGACCTTTGCTCGCCATCTCTTCATCATCCATCAAGAAATATCAGCACCTAATATGCAAGGCGAGACCAATTTTAAG___ACCACCATTGCTGATATTGAAACTATTCTAAGAGTAACAAAGGAAAACAAAATGAGATTTGAAGAGGAGCAACAGTCCAAAGATGATAAAAACCTCTCTAAACCCAAGAAATGATCCTGGAATACAGTACATAACAATTTGGATCCCAGTCTGGAATAAAAAGGGCAATTTTTTTTTCTGTTAGAAATAAAAGCCAGGGGAAATTGGTTTGCTTTGTGTGCTAGGAGGTGAATCAGAACAGATTATAATGAAATGCTCTTTTTAAAACATTGTTTATTAAGTGATCTTATTTTATTTATTAAACCAAAACTTATTTGTGTTTTCATTTGAGAGTGTTGAACAATCCCTTCTTCTTCTCAAACTCAGAAAAAAGTAATCTGATAAAAGAAGAAAGTTAAAAGTCTTACTGATATCACCTCCGCATTTACTTCCTCATAGGCCTCAGGATTATGTAGCTTTTATTTTTTATGTTTTATAAAGTTTTCTCCTATTTCTAATAGTCCATCGATCTTCTGCATTTATAGGTTTGAATAAAGGCTTAAGAATTGCTATTTGTCAAAACACAAATGCCTTTTTTTCAAAGCTTCAAATTATATTGAAATTATATTTATATGAATTTTTAAGTGACTATCATTCATCGTGTTTTTGTTATACCAAGCCACTATTGTCTGCTATTGTTGCCATTTTTCAAAAAGTAGGATAAGCCAGCATCTAGTTAACCAAAGCATCAGAATGTATCTAGGTGGCAGTATCTGCTCTTAGTTTAAGATGGAGTGTAGCTCGAGCTCTGTAGCTTGAATAAACATTTGTATTCTCTAGTTCTCCATTTAATACAGCAGTAGGATTTTTTCAAGTTTAGTTCAACATTATACTACCTTTAAAAAGGCAGACTGTTAAGATTGTAGTAGTGCTGACTCTAACTTTCAGCATTCACTTCATAATTGTCCAAAAATATTTCCACATCAGTGAGCTTTACTGAAGGGTGAAATAAAAGCAAATTACAACACCAAAACCATTATTGTTTTAAAGAATGACCTTTATGTCTATAAAAATATTTTAGTGTATTGGGGAAAGGAATAGGATTTTTACCTGTGGAATTTCAATAATTTGTTAACTGTGATTCAGCCACAGGCTAAGAGTTTCTGTAATAAAATTAACATTTGTGTGTGTCA)$ MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPr|cgqpaltshivtswp* 05CO033 ENSG00000166949.16 ENSG00000103599.20 +/+ +/+ chr15:67066360 chr15:67475696 CDS/splice-site CDS/splice-site deletion 9 6 0 58 32 high out-of-frame . MH1_domain(100%)| . . ENSG00000166949.16 ENSG00000103599.20 ENST00000327367.9 ENST00000335894.9 downstream upstream duplicates(1),inconsistently_clipped(1) ^(GAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGA)AGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAG|ATGCTGGCAACCAGTCGCTATGCAGTGATGACCACCCAGCTAAGACACAGCAATCTCTCACTGGTTTTCCACTATGTTTTTCTCCAGATCTGTAGGGCCCATGGCATTGGCTATGATcTTGAG(___GAAAGGCAAGGAACTGTTTTTATATTATATGAGCACCTGAAGAGACACAAGTTGGGAATGTT___AACAATCGGCGAGGATCTCCAGGGGGTCCTCATGACCTTTGCTCGCCATCTCTTCATCATCCATCAAGAAATATCAGCACCTAATATGCAAGGCGAGACCAATTTTAAG___ACCACCATTGCTGATATTGAAACTATTCTAAGAGTAACAAAGGAAAACAAAATGAGATTTGAAGAGGAGCAACAGTCCAAAGATGATAAAAACCTCTCTAAACCCAAGAAATGATCCTGGAATACAGTACATAACAATTTGGATCCCAGTCTGGAATAAAAAGGGCAATTTTTTTTTCTGTTAGAAATAAAAGCCAGGGGAAATTGGTTTGCTTTGTGTGCTAGGAGGTGAATCAGAACAGATTATAATGAAATGCTCTTTTTAAAACATTGTTTATTAAGTGATCTTATTTTATTTATTAAACCAAAACTTATTTGTGTTTTCATTTGAGAGTGTTGAACAATCCCTTCTTCTTCTCAAACTCAGAAAAAAGTAATCTGATAAAAGAAGAAAGTTAAAAGTCTTACTGATATCACCTCCGCATTTACTTCCTCATAGGCCTCAGGATTATGTAGCTTTTATTTTTTATGTTTTATAAAGTTTTCTCCTATTTCTAATAGTCCATCGATCTTCTGCATTTATAGGTTTGAATAAAGGCTTAAGAATTGCTATTTGTCAAAACACAAATGCCTTTTTTTCAAAGCTTCAAATTATATTGAAATTATATTTATATGAATTTTTAAGTGACTATCATTCATCGTGTTTTTGTTATACCAAGCCACTATTGTCTGCTATTGTTGCCATTTTTCAAAAAGTAGGATAAGCCAGCATCTAGTTAACCAAAGCATCAGAATGTATCTAGGTGGCAGTATCTGCTCTTAGTTTAAGATGGAGTGTAGCTCGAGCTCTGTAGCTTGAATAAACATTTGTATTCTCTAGTTCTCCATTTAATACAGCAGTAGGATTTTTTCAAGTTTAGTTCAACATTATACTACCTTTAAAAAGGCAGACTGTTAAGATTGTAGTAGTGCTGACTCTAACTTTCAGCATTCACTTCATAATTGTCCAAAAATATTTCCACATCAGTGAGCTTTACTGAAGGGTGAAATAAAAGCAAATTACAACACCAAAACCATTATTGTTTTAAAGAATGACCTTTATGTCTATAAAAATATTTTAGTGTATTGGGGAAAGGAATAGGATTTTTACCTGTGGAATTTCAATAATTTGTTAACTGTGATTCAGCCACAGGCTAAGAGTTTCTGTAATAAAATTAACATTTGTGTGTGTCA)$ MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPr|cwqpvamq* 05CO033 ENSG00000166949.16 ENSG00000103599.20 +/+ +/+ chr15:67066360 chr15:67494258 CDS/splice-site CDS/splice-site deletion 2 1 0 58 52 high in-frame . MH1_domain(100%)| . . ENSG00000166949.16 ENSG00000103599.20 ENST00000327367.9 ENST00000335894.9 downstream upstream . ^(GAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCC)CGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAG|AACAATCGGCGAGGATCTCCAGGGGGTCCTCATGACCTTTGCTCGCCATCTCTTCATCATCCATCAAGAAATATCAGCACCTAATATGCAAGGCtAG(ACCAATTTTAAG___ACCACCATTGCTGATATTGAAACTATTCTAAGAGTAACAAAGGAAAACAAAATGAGATTTGAAGAGGAGCAACAGTCCAAAGATGATAAAAACCTCTCTAAACCCAAGAAATGATCCTGGAATACAGTACATAACAATTTGGATCCCAGTCTGGAATAAAAAGGGCAATTTTTTTTTCTGTTAGAAATAAAAGCCAGGGGAAATTGGTTTGCTTTGTGTGCTAGGAGGTGAATCAGAACAGATTATAATGAAATGCTCTTTTTAAAACATTGTTTATTAAGTGATCTTATTTTATTTATTAAACCAAAACTTATTTGTGTTTTCATTTGAGAGTGTTGAACAATCCCTTCTTCTTCTCAAACTCAGAAAAAAGTAATCTGATAAAAGAAGAAAGTTAAAAGTCTTACTGATATCACCTCCGCATTTACTTCCTCATAGGCCTCAGGATTATGTAGCTTTTATTTTTTATGTTTTATAAAGTTTTCTCCTATTTCTAATAGTCCATCGATCTTCTGCATTTATAGGTTTGAATAAAGGCTTAAGAATTGCTATTTGTCAAAACACAAATGCCTTTTTTTCAAAGCTTCAAATTATATTGAAATTATATTTATATGAATTTTTAAGTGACTATCATTCATCGTGTTTTTGTTATACCAAGCCACTATTGTCTGCTATTGTTGCCATTTTTCAAAAAGTAGGATAAGCCAGCATCTAGTTAACCAAAGCATCAGAATGTATCTAGGTGGCAGTATCTGCTCTTAGTTTAAGATGGAGTGTAGCTCGAGCTCTGTAGCTTGAATAAACATTTGTATTCTCTAGTTCTCCATTTAATACAGCAGTAGGATTTTTTCAAGTTTAGTTCAACATTATACTACCTTTAAAAAGGCAGACTGTTAAGATTGTAGTAGTGCTGACTCTAACTTTCAGCATTCACTTCATAATTGTCCAAAAATATTTCCACATCAGTGAGCTTTACTGAAGGGTGAAATAAAAGCAAATTACAACACCAAAACCATTATTGTTTTAAAGAATGACCTTTATGTCTATAAAAATATTTTAGTGTATTGGGGAAAGGAATAGGATTTTTACCTGTGGAATTTCAATAATTTGTTAACTGTGATTCAGCCACAGGCTAAGAGTTTCTGTAATAAAATTAACATTTGTGTGTGTCA)$ MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPr|TIGEDLQGVLMTFARHLFIIHQEISAPNMQG* 05CO033 ENSG00000151304.6 ENSG00000248261.2(42603),ENSG00000173930.9(44509) +/+ ./+ chr5:121975387 chr5:102189477 CDS/splice-site intergenic duplication 7 8 0 62 11 high out-of-frame . . . . ENSG00000151304.6 . ENST00000339397.5 . downstream upstream . ^(GCGGTCTGAGAGACCGGTTCACGTGCAGGCAGCGGCGGATCATATTCCTTCATCTACCATGGCTCAGCCGGGAACTCTGAACCTCAATAACGAG___GTT)GTGAAGATGAGAAAAGAAGTGAAGAGAATTCGAGTTTTAGTTATCCGAAAACTTGTCAGGAGTGTTGGCCGACTGAAGTCAAAAAA___GGGTACTGAAGATGCACTGTTAAAAAACCAAAGACGGGCGCAAAGATTGCTTGAAGAAATCCATGCCATGAAG|TGGCAGTGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAG___GTGACGTTGTATCTTTGCAAAGTTGGGTCTTCAACAATCGCTATGATAAAAAGAAATTACCTGTGAAAATCAATGTGAGATATAAAAGGA MAQPGTLNLNNEVVKMRKEVKRIRVLVIRKLVRSVGRLKSKKGTEDALLKNQRRAQRLLEEIHAMK|wqweeprwpnrnssglqlpa* 05CO033 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 4 6 0 18 14 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) GTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATG(TCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO033 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 3 0 210 41 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|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO034 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 20 16 0 38 58 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) CATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO034 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 19 16 0 126 67 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAG...___AACAGACAAAAGGAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO034 ENSG00000100106.22 ENSG00000167306.20 +/+ -/- chr22:37746420 chr18:50055378 CDS/splice-site CDS/splice-site translocation 3 19 0 12 41 high in-frame . |DIL_domain(100%),IQ_calmodulin-binding_motif(100%),Myosin_head_(motor_domain)(100%) . . ENSG00000100106.22 ENSG00000167306.20 ENST00000403663.6 ENST00000285039.12 downstream downstream . ^(GTTTTATGGGCGGATGGAAGGGGCCGGGGCAGCGTCGGGGAAAGGAAGGGCCGGAGGCGCGGCGGCGGGCGGCCGAGAGGGGCGGCGGCGGCGGCGGCGGCGGGGTTCCCGCGCCG)CGGAGCCCGGCCCGAGAGCCGCGTCCACGTTCCTGCCTCCTGCTCCCGCCGCCCTGGGGCGCCGCCATGACG|TGCACAAGGGTCTGGATCCCTGACCCTGATGAGGTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGACAAGAGCCTACAGCTCAGACTGGAGGATGAAACG___ATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCCTTCTTACGGAATCCAGATATCTTGGTGGGAGAAAATGACCTGACTGCCCTTAGCTATCTTCATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATATCTACA(CTTACTGTG___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)$ MGGWKGPGQRRGKEGPEARRRAAERGGGGGGGGVPAPRSPAREPRPRSCLLLPPPWGAAMT|CTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAKTTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHINKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWAQKLYDRHSSSQHFQKPRMSNTAFIIVHFADKVEYLSDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVPATTPGKGSSSKISVRSARPPMKVSNKEHKKTVGHQFRTSLHLLMETLNATTPHYVRCIKPNDEKLPFHFDPKRAVQQLRACGVLETIRISAAGYPSRWAYHDFFNRYRVLVKKRELANTDKKAICRSVLENLIKDPDKFQFGRTKIFFRAGQVAYLEKLRADKFRTATIMIQKTVRGWLQKVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRMQRARQAYQRVRRAAVVIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKARRELKALRIEARSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVERLKKELVHYQQSPGEDTSLRLQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADLEQENALLKDEKEQLNNQILCQSKDEFAQNSVKENLMKKELEEERSRYQNLVKEYSQLEQRYDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSEIGDTEDALQQVEEIGLEKAAMDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLDPNADLAYNSLKRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEEVLILRTQIVSADQRRLAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDWGYLNEDGELGLAYQGLKQVARLLEAQLQAQSLEHEEEVEHLKAQLEALKEEMDKQQQTFCQTLLLSPEAQVEFGVQQEISRLTNENLDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDLKPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVMCDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV* 05CO034 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 14 0 26 145 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) CTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGtACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACtACAG___CTTGGTGATCC(AGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO034 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 13 14 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAG(AACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO034 ENSG00000121060.18 ENSG00000196535.16 -/- -/- chr17:56908468 chr17:29122253 CDS/splice-site CDS/splice-site deletion 8 2 0 36 20 high in-frame . RING-type_zinc-finger(100%)|Myosin_head_(motor_domain)(100%),Myosin_tail(100%) . . ENSG00000121060.18 ENSG00000196535.16 ENST00000316881.9 ENST00000527372.6 upstream downstream duplicates(1) ^(CGTTTCCTCGGCGGCCTCGGAGCGCGGGTGCAGCAGTTGTGTCCCGACCCCTGGGAGCGCCATGGCAGAGCTGTGCCCCCTGGCCGAGGAGCTGTCGTGCTCCATCTGCCTGGAGCCCTTCAAGGAGCCGGTCACCACTCCGTGCGGCCACAACTTCTGCGGGTCGTGCCTGAATGAGACGTGGGCAGTCCAGGGCTCGCCATACCTGTGCCCGCAGTGCCGCGCCGTCTACCAGGCGCGACCGCAGCTGCACAAGAACACGGTGCTGTGCAACGTGGTGGAGCAGTTCCTGCAGGCCGACCTGGCCCGGGAGCCACCCGCCGACGTCTGGACGCCGCCCGCCCGCGCCTCTGCACCCAGCCCGAATGCCCAGGTGGCCTGCGACCACTGCCTGAAGGAGGCCGCCGTGAAGACGTGCTTGGTGTGCATGGCCTCCTTCTGTCAGGAGCACCTGCAGCCGCACTTCGACAGCCCCGCCTTCCAGGACCACCCGCTGCAGCCGCCCGTTCGCGACCTGTTGCGCCGCAAATGTTCCCAGCACAATCGGCTGCGGGAATTTTTCTGCCCCGAGCACAGCGAGTGCATCT)GCCACATCTGCCTGGTGGAGCATAAGACCTGCTCTCCCGCGTCCCTGAGCCAGGCCAGCGCCGACCTGGAG___GCCACCCTGAGGCACAAACTAACTGTCATGTACAGTCAGATCAACGGGGCGTCGAGAGCACTGGATGATGTGAGAAACAGGCAGCAGGATGTGCGG|GCGAAAACAGAAGAACAGATTGCAGCAGAAGAGGCCTGGAATGAGACGGAGAAGGTGTGGCTGGTCCATAGGGACGGCTTCTCACTGG___CCAGTCAACTCAAATCTGAGGAGCTCAACTTGCCTGAGGGGAAGGTGCGTGTGAAGCTGGACCACGATGGGGCCATCCTGGATGTGGATGAGGATGACGTTGAGAAG___GCTAATGCTCCCTCCTGCGACCGTCTGGAGGATCTGGC(CTCACTGGTGTACCTCAATGAGTCCAGCGTCCTGCACACCTTGCGCCAGCGCTATGGCGCTAGCCTGCTGCACACGTATGCTGGCCCCAGCCTGCTGGTTCTTGGCCCCCGTGGGGCCCCTGCTGTGTACTCTGAGAAG___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___AGCCTGGCTAGCCGTCTCAAGGAAAACATGGAGAAGCTGACTGAGGAGCGGGATCAGCGCATTGCAGCCGAGAACCGGGAGAAGGAACAGAACAAGCGGCTACAGAGGCAGCTCCGGGACACCAAGGAGGAGATGGGCGAGCTTGCCAGGAAGGAGGCCGAGGCGAGCCGCAAGAAGCACGAACTG___GAGATGGATCTAGAAAGCCTGGAGGCTGCTAACCAGAGCCTGCAGGCTGACCTAAAGTTGGCATTCAAGCGCATCGGGGACCTGCAGGCTGCCATTGAGGATGAGATGGAGAGTGATGAGAATGAGGACCTCATCAACAG___TTTGCAGGACATGGTGACAAAGTATCAGAAAAGAAAGAATAAACT___TGAGGGAGACTCTGATGTGGACTCGGAGCTGGAGGACCGTGTTGACGGGGTCAAGTCCTGGTTGTCAAAAAACAAGGGACCTTCCAAGGCAGCTTCTGATGATGGCAGCTTAAAGAGTTCCAG___CCCCACCAGCTACTGGAAGTCCCTTGCCCCTGATCGGTCAGATGATGAGCACGACCCTCTCGACAACACCTCCAGACCGCGATACTCCCACAGTTATCTGAGTGACAGCGACACAGAGGCCAAGCTGACGGAGACTAACGCATAGCCCAGGGGAGTGGTTGGCAGCCCTCTCACCCCAGGGCCTGTGGCTGCCTGGGCACCTCTCCCAGGAAGTGGTGGGGCACCGGTCTCCCCCACCCGACTGCTGATCTGCATGGGAAACACCCTGACCTTCTTCTGTCAGGGGCACTTTCCAGGCTATGGGTGTCTGATGTCTCCACGTGGAAGAGGTGGGGGAAAGAGGAGTTTCTGAAGAGAACTTTTTGCTCCTCTGTCTCAAAATGCCAGACTCTTGGCTTCTACCCTGTGTCACCGTGGGCAGTGGCAGGTGGCCTGGCACTGCATGGAGCCAGCACGTTGACCTCCCTCTCAGCTCCCTGCTCAGGGACGGTGGACAGGTTGCCTACTGGGACACTCTAGGTTGCTGGGTCCATGGGGAGGATTGGGGGAGGAGAAGCAGTGCCTTCCCTCTCGTGTGGGGTGGGGGCTCTCTCTTCTTGGTGCCTGCTGTCTTTCTACTTTTTAATTTAAATACCCAACCTCTCCATCACAGCTGCATCCCTGAGAGTGGGAGGGGGCTGTAGTGGTAGCTGGGGCTCCCAAGAACGACTCGGGAATGTCATCTCCATCTTCACCCTTCAGAGAGCAGTCCTTTCTCTGTGCAGCTGGAGACGCTGGTGAGGAGAGCCGGGTCCAGGTTCTTAAGAATGAGGTGCGGAGGGGCTCTCCGGTGCTGCTGGGCTGGGTTGAGCAAGCCTACGCAGACAAGTGTGTGTGTGGACCATCCGCACCTCCAGCCCCCACCCCACCCTCTTTGTCTCAGCGTGTTATGTGCAATGACCTATTTAAGGTAAACCCATTCCAACTACAGCAGTTCAGGGCTGATCCAAGCACTGCCTCCCTCCTGCTCTGTCCAGGTGGTCTGGACCATAAACTCAACTTGAGAGGGAAGGCTTGGGGTTGAGGACTTGTGATCAGAAAAACTGAAGATGGAAGTTTTGGCCGGTGCTCATTAGACATGAGTCCTCACTCTGTGTCCTGAGCCCGTGTCATTCTTCCAACCTCCCTGCCCCCACACACTTATCCCAGACACAACACCATGTGGTCTGGAGGTCCCAGCCCCCACCCTAAAAAGGTTATCCCTGAGAACTCCACCAGACTTGGGAGCCCAAGTGCAGTGCCTGGTGCTGCTCCCATCTGCCGCCCCCCTTCTCTCCTGCAATTGGTTTGTACTCACTGGGCTGTGCTCTCCCCTGTTTACCCGATGTATGGAAATAAAGGCCCTTTTCCTCCTGGCTGCGCCAGTTTTCCTGCCTGTTCCTTCAGGCTCAGGCAAAGTCTGGATTGGTCCTGGGGGTGGTGGGCAGAGGCAGGATTCTGATGGGGACCGTGAGGGCATCACCCTGGTCTCTGGCCTGCTCCCCAAAGTGTCAGACCAGTGCCACTTAAAGAGCCTAGGCAGCTCATTTTGGGGCAGGCAGAGGTAGTGGAATGAGGGGATTGGCCAAGGAAGACACAAGCCCCACCTTTTATGTGAAGAGCCTAGGGACTGTGATTCAGGTTAGCAAGGGTGGCAGAGACTCCAAGCCTCATCCTCCCTAGCCTCCACAAGGGAATGTTGAGGTCCCTCTGATTGTTAAATCTCACCAATTACAGAGATTCTCTTCTCTTCTCTTCTCTTCCTCCTTCCGTCCCTCCCTCTCTCCCTCTCTCTCTCTCTTTCTTTCTTTCATTCTCTTTCTTTTTGGATTCAAGCCCTTCTCATTAGAACATTTTTTAAAAGCTTAATTTTAGCCATTTCAAAGGTGACTTTTTGATCAAAACTTGGCAGAACTAGCTCGGGCCCACAGGGCAATGTGAATAGGTTGGGAGTGCTGTCTCTGCCCTGCTCGGTCCCTGTCTTCATGCCCTACTCCATGCTTTGTTCCTTCATTGACAGCTAAGAGGCAGCTCATGCAGAAAGGCAAGAAACAAATGACACCCCTCCTCCTCTTCTACCTTCTACCTTCTCATTCTGTAGTGTGGCCAGTTATAATCCCTGAATGAATAAAGTAGTTTGGACAGATGGGTGGGAAAAAATAGCAAACAGCCCAAGTGCCGAGGCTCTGATAATGTCAGCCATCCAGAAAGAGTCCAAAAGGGAAGAAGGGAGAAAAGTCTCCCCCAAAATGAATGGGACAGAGTGTGAAGTGGATCTGTCTCGAACAGAGACTGCCCCCTCCATTGCCCCACGATAGAACAGAGAAGAGGATAGAAACAATAGTAAAAGGGAAGTTACTTGTCTTTTGGAGACAGAGTCTTGCTATGTCGCCCAAGCTGGAATGCAGTGGCATGATCTCAACTCACTGCAACCTCTACCTCCCGAGGTTCAAGCGATTCTCCTGCCTAAACCCTCCGAGTAGCTGGGACTTAACAGACGTGTACCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATGTTGAGCAGGCTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGTGCCTGGCCTAAGTTACTTTTTTTTACAAAAAAAAAAAAAAAAAAAAAAAGGCTGCTAGCTTATGTTCAGTTCTGTCACTCTCATCTTTTATTCCTGTTTTCACATAGCGTGGTACATTTTCTGTTTCTACTAGGGACTAGTGTGACAAACTCCCTGCCACCTTTAGATGAATTCCCAAATCTGTTCACTCATACTGAGTCAAGCCTCTGGTTAACTGGAAACTCCAACATCAACCTCCAATAACCCGGCCTGGGGTAAAAAGCTTTGTTCAAGTCAGAAAACATATTCATTTGCTTAACAGTTGAGAAATATTTCATGACTGCCTGCTGTGCCTAGGCCCCATTCTGGGTGCTGGTGATGGATAAGGTCCCTTCCTTCATAAAGTGGAGGAAGGTAGACACAAAATACATGCTGCACCTGCTAGTATGCATAAGCTTAGAGTGGGTAGAGAGGAACACATCATAGTATCCATCCTCCAGGGTTTTGCGGACGAGGGCTGGAGCAGACCCATGTGGAAATAATTACATAAGACCTAACAAGGATGAAGAGGTTGCTTTGGACATACTATGGAGGGAGATGCTCTCTTTGGCGGGGAGGATTGGGAAAGCCTCTAAAAGGAGCTGCTATTTTGACCAGGGCTTGAAAATAGCACTTCCACAGGTACAGTTGCTGGGAAAGGCATATTGAGAAGAAGAAGAGTTTAAGTAAAGGTCCTGGGGCAGGGAAAGAGAGGTGCTGGTAGAACATGCCACAGGCTGGCTGTGCATTGTCACATGACCAGTGCTTCTCCAAGTTTCAGTTGAGAAGGAGACAATTCCCTTGGCCCCAGAGGAGTCCAGGAGCCTTTAGGGCCACCAAAGCCCATCTTTATTTTGGGTGTACCTTGAAGGCTCTGCTGTTGACCTTACCTGTACACTCATGGTACCTCTGGTCCCTAAGATGTTGCAGAAGGCAAATCTGGCCCTTTGCCAGGCTCAAAGCCAGCCTGCTAGATCCTCCTCTATAACTGCAGATCCCCGGGATTGCTCTGACTCCTGAATAAGCATGGGCGGGAACCAGTGCCCCTGTGGGACTCCCCATGGTGCCCAGTCTGTGCCCAGAAAATAAAGTGGCAGGCAGTGACCCCTA)$ MAELCPLAEELSCSICLEPFKEPVTTPCGHNFCGSCLNETWAVQGSPYLCPQCRAVYQARPQLHKNTVLCNVVEQFLQADLAREPPADVWTPPARASAPSPNAQVACDHCLKEAAVKTCLVCMASFCQEHLQPHFDSPAFQDHPLQPPVRDLLRRKCSQHNRLREFFCPEHSECICHICLVEHKTCSPASLSQASADLEATLRHKLTVMYSQINGASRALDDVRNRQQDVR|AKTEEQIAAEEAWNETEKVWLVHRDGFSLASQLKSEELNLPEGKVRVKLDHDGAILDVDEDDVEKANAPSCDRLEDLASLVYLNESSVLHTLRQRYGASLLHTYAGPSLLVLGPRGAPAVYSEKVMHMFKGCRREDMAPHIYAVAQTAYRAMLMSRQDQSIILLGSSGSGKTTSCQHLVQYLATIAGISGNKVFSVEKWQALYTLLEAFGNSPTIINGNATRFSQILSLDFDQAGQVASASIQTMLLEKLRVARRPASEATFNVFYYLLACGDGTLRTELHLNHLAENNVFGIVPLAKPEEKQKAAQQFSKLQAAMKVLGISPDEQKACWFILAAIYHLGAAGATKEAAEAGRKQFARHEWAQKAAYLLGCSLEELSSAIFKHQHKGGTLQRSTSFRQGPEESGLGDGTGPKLSALECLEGMAAGLYSELFTLLVSLVNRALKSSQHSLCSMMIVDTPGFQNPEQGGSARGASFEELCHNYTQDRLQRLFHERTFVQELERYKEENIELAFDDLEPPTDDSVAAVDQASHQSLVRSLARTDEARGLLWLLEEEALVPGASEDTLLERLFSYYGPQEGDKKGQSPLLHSSKPHHFLLGHSHGTNWVEYNVTGWLNYTKQNPATQNAPRLLQDSQKKIISNLFLGRAGSATVLSGSIAGLEGGSQLALRRATSMRKTFTTGMAAVKKKSLCIQMKLQVDALIDTIKKSKLHFVHCFLPVAEGWAGEPRSASSRRVSSSSELDLPSGDHCEAGLLQLDVPLLRTQLRGSRLLDAMRMYRQGYPDHMVFSEFRRRFDVLAPHLTKKHGRNYIVVDERRAVEELLECLDLEKSSCCMGLSRVFFRAGTLARLEEQRDEQTSRNLTLFQAACRGYLARQHFKKRKIQDLAIRCVQKNIKKNKGVKDWPWWKLFTTVRPLIEVQLSEEQIRNKDEEIQQLRSKLEKAEKERNELRLNSDRLESRISELTSELTDERNTGESASQLLDAETAERLRAEKEMKELQTQYDALKKQMEVMEMEVMEARLIRAAEINGEVDDDDAGGEWRLKYERAVREVDFTKKRLQQEFEDKLEVEQQNKRQLERRLGDLQADSEESQRALQQLKKKCQRLTAELQDTKLHLEGQQVRNHELEKKQRRFDSELSQAHEEAQREKLQREKLQREKDMLLAEAFSLKQQLEEKDMDIAGFTQKVVSLEAELQDISSQESKDEASLAKVKKQLRDLEAKVKDQEEELDEQAGTIQMLEQAKLRLEMEMERMRQTHSKEMESRDEEVEEARQSCQKKLKQMEVQLEEEYEDKQKVLREKRELEGKLATLSDQVNRRDFESEKRLRKDLKRTKALLADAQLMLDHLKNSAPSKREIAQLKNQLEESEFTCAAAVKARKAMEVEIEDLHLQIDDIAKAKTALEEQLSRLQREKNEIQNRLEEDQEDMNELMKKHKAAVAQASRDLAQINDLQAQLEEANKEKQELQEKLQALQSQVEFLEQSMVDKSLVSRQEAKIRELETRLEFERTQVKRLESLASRLKENMEKLTEERDQRIAAENREKEQNKRLQRQLRDTKEEMGELARKEAEASRKKHELEMDLESLEAANQSLQADLKLAFKRIGDLQAAIEDEMESDENEDLINSLQDMVTKYQKRKNKLEGDSDVDSELEDRVDGVKSWLSKNKGPSKAASDDGSLKSSSPTSYWKSLAPDRSDDEHDPLDNTSRPRYSHSYLSDSDTEAKLTETNA* 05CO034 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 6 3 1 13 12 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTA)GTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 05CO034 ENSG00000172432.19 ENSG00000100106.22(22926),ENSG00000189060.5(5611) -/- ./+ chr6:43626271 chr22:37799482 CDS intergenic translocation 2 1 0 16 2 medium out-of-frame . . . . ENSG00000172432.19 . ENST00000307126.10 . upstream upstream . ^(ACTCTGCTCAGGCCGGCCGGACACGGCAGTGGCAGTAAGGGCGGCGGCGACGGCGGCGGCGGTCGGGGGAGGGGCCGGGCGGGGGGCTGGCGGCAGCGGCGGATGGACTCGCGGGTATCGGAGCTGTTCGGCGGCTGCTGCCGGCCCGGAGGGGGCCCGGCCGTGGGCGGAACCCTCAAGGCTAGGGGGGCCGGCAGCAGCAGCGGCTGCGGGGGGCCAAAGGGAAAGAAGAAGAACGGAAGGAACAGAGGGGGCAAAGCCAACAACCCCCCGTATTTGCCCCCCGAG___GCTGAAGATGGAAACATTGAATATAAA___)TTGAAGCTGGTGAATCCATCCCAGTACCGCTTTGAGCACCTGGTGACACAAATGAAGTGGCGGCTCCAGGAGGGACGTGGTGAGGCCGTCTACCAGATTGGGGTAGAGGACAATGGGCTGCTGGTGGGGCTGGCTGAGGA|TTGATCAGCTTCTCTTCTTCCTCCCCTCCTTGCTATCCTTCCTGGCCTCTGGTAACCACCAATTTACTCTCCATCTTTGTGAGATCCACTTTTTTTTTTTTTTTTGAaTCGGG MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLPPEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEd|* 05CO034 ENSG00000101773.19 ENSG00000253230.9(36964),ENSG00000286622.1(41782) +/+ ./+ chr18:22982393 chr8:9942222 CDS/splice-site intergenic translocation 0 2 0 27 3 medium out-of-frame . Tumour-suppressor_protein_CtIP_N-terminal_domain(100%)| . . ENSG00000101773.19 . ENST00000327155.10 . downstream upstream . ^(GCGTGACGTCGCGCGGGCTCCCGGGCGGGGCGGGTCCGGCCGCCTCCGAGCCCGGCCGGCAGCCCCCGGCCTTAAAGCGCGGGCTGTCCGGAGGGGTCGGCTTTCCCACCGAGGATTTGGCACTCTGGTGAGGGAAAAGGGCGAAAGAGAAAAGCGAGCAGCCGTCCTTTCACAGCCTCAGAAAGTGCTCGCTTCCCTTCGGGGGCTTTCGCGAATCCCGAGGCAATCTCGGAGGCG___GTATTTGACCTGTCCAAAGACGACTTGATACCTCTATAATGTAACAGAAAAGGTCAGAAAATATTAAGCAAGTAGAAGTGTGGAGCATATTAAGCAAGATGAACATCTCGGGAAGCAGCTGTGGAAGCCCTAACTCTGCAGATACATCTAGTGACTTTAAGGACCTTTGGACAAAACTAAAAGAATGTCATGATAGAGAAGTACAAG___GTTTACAAGTAAAAGTAACCAAGCTAAAACAGGAACGAATCTT___AGATGCACAAAGACTAGAAGAATTCTTCACCAAAAATCAACAGCTGAGGGAACAGCAGAAAGTCCTTCATGAAACCATTAAAGTTTTAGAAGATCG___GTTAAGAGCAGGCTTATGTGATCGCTGTGCAGTAACTGAAGAACATATGCGGAAAAAACAGCAAGAGTTTGAAAATATCCGGCAGCAGAATCTTAAACTTATTACAGAACTTA___TGAATGAAAGGAATACTCTACAGGAAGAAAATAAAAAGCTTTCTGAACAACTCCAGCAGAAAATTGA___GAATGATCAACAGCATCAAGCAGCTGAGCTTGAATGTGAGGAAGACGTTATTCCAGATTCACCGATAAC)AGCCTTCTCATTTTCTGGCGTTAACCGGCTACGAAGAAAGGAGAACCCCCATGTCCGATACATAGAACAAACACATACTAAATTGGAGCACTCTGTGTGTGCAAATG|GTGGAGAACTGTCACAGTGCGTCCTTGGATGATGGACCGCAGATGGAACACCCAGCAGGAAGTAACTCCTCCACTGAGGATGGCATTCATCTCTACCACCTGCATGGTTTTTGCTATAACT___ATGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAATGGTG MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFFTKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCAN|ggelsqcvlg* 05CO035 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 28 12 0 52 61 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),mismatches(1) GAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCAC(GGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO035 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 19 0 25 168 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) GCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCT(GCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO035 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 10 0 22 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1) AGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCC(GCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO035 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 3 0 118 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 . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO035 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 7 3 1 16 12 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream mismappers(1) GGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAG(AGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO035 ENSG00000205268.11 ENSG00000241697.5 -/- +/- chr8:65841371 chr9:100496689 CDS/splice-site intron translocation/5'-5' 3 2 0 8 2 high out-of-frame . . . . ENSG00000205268.11 ENSG00000241697.5 ENST00000401827.8 . upstream downstream . ^(GTGAATTACGCCGGGCTCGCGCCGGCGGCGGAGTGAAGTCAGGCTCCGGGGGAGGGGAGGAGCAGGACTCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCGAGCTGGTCGCTGCTCCTGAGTCCCGCGCGCCCTGGGTCTGGCCGCTGGCTCCAGCTGTCTTTTCTTGCACTGCTTTGCTCCGTTCGTGCTGCGCTCGAACTCTGCAGTCCGGGTACCTGCTCCTCTCGGCCGAGGAGCCCCAGGGCGGCGGGGTTCCCTTTCCGACTTTGCCTGTGCTGGCCCCGCTTGCACCCCGTCCCCCCTCGCCTGGAGCGAGGCGCGCGCCGGTCCTGGTAATTGGCGCCGCGGCCGCCGCGGAGCCTTCCCGCCGGCGGCCCGAGCGGAGGGCTGGGGTTGGGGAGGCGTGAGCGCGGCTTCCCAGCCCGGGGTCGGTCCCCGCCCGCCCTGCCCCCGTCTCGGCCCGGAGCCCCCGAGCCGCGGCCCCCTCCCACTGCAGGGGCCGGCGGCCGCGGCAGGGCGGGCGCCGCGCGGAGGCAGGGCGGGCGTATTCAATGGAAGTGTGTTA)CCAGCTGCCGGTACTGCCCCTGGACAGGCCGGTCCCCCAGCACGTCCTCAGCCGCCGAGGAGCCATCAGCTTCAGCTCCAGCTCCGCTCTCTTCGGCTGCCCCAATCCCCGGCAGCTCTCTCAG|GTACAGTGGATTGCAAGCTAGAACCTAAACCATCCCTGCCACCAGGAGTCACATTTGGTAACCCCAAGGAATGTTTGTATGAGGGACTACAGAATACTTTAG MEVCYQLPVLPLDRPVPQHVLSRRGAISFSSSSALFGCPNPRQLSQ|vqwias* 05CO035 ENSG00000205268.11 ENSG00000251349.3 -/- +/- chr8:65841371 chr9:100496689 CDS/splice-site intron translocation/5'-5' 3 2 0 8 2 high out-of-frame . . . . ENSG00000205268.11 ENSG00000251349.3 ENST00000401827.8 . upstream downstream . ^(GTGAATTACGCCGGGCTCGCGCCGGCGGCGGAGTGAAGTCAGGCTCCGGGGGAGGGGAGGAGCAGGACTCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCGAGCTGGTCGCTGCTCCTGAGTCCCGCGCGCCCTGGGTCTGGCCGCTGGCTCCAGCTGTCTTTTCTTGCACTGCTTTGCTCCGTTCGTGCTGCGCTCGAACTCTGCAGTCCGGGTACCTGCTCCTCTCGGCCGAGGAGCCCCAGGGCGGCGGGGTTCCCTTTCCGACTTTGCCTGTGCTGGCCCCGCTTGCACCCCGTCCCCCCTCGCCTGGAGCGAGGCGCGCGCCGGTCCTGGTAATTGGCGCCGCGGCCGCCGCGGAGCCTTCCCGCCGGCGGCCCGAGCGGAGGGCTGGGGTTGGGGAGGCGTGAGCGCGGCTTCCCAGCCCGGGGTCGGTCCCCGCCCGCCCTGCCCCCGTCTCGGCCCGGAGCCCCCGAGCCGCGGCCCCCTCCCACTGCAGGGGCCGGCGGCCGCGGCAGGGCGGGCGCCGCGCGGAGGCAGGGCGGGCGTATTCAATGGAAGTGTGTTA)CCAGCTGCCGGTACTGCCCCTGGACAGGCCGGTCCCCCAGCACGTCCTCAGCCGCCGAGGAGCCATCAGCTTCAGCTCCAGCTCCGCTCTCTTCGGCTGCCCCAATCCCCGGCAGCTCTCTCAG|GTACAGTGGATTGCAAGCTAGAACCTAAACCATCCCTGCCACCAGGAGTCACATTTGGTAACCCCAAGGAATGTTTGTATGAGGGACTACAGAATACTTTAG MEVCYQLPVLPLDRPVPQHVLSRRGAISFSSSSALFGCPNPRQLSQ|vqwias* 05CO035 ENSG00000101974.14 ENSG00000232549.1(37470),ENSG00000101981.12(45593) -/- ./- chrX:139932016 chrX:139485146 CDS/splice-site intergenic deletion 1 1 0 15 2 high out-of-frame . . . . ENSG00000101974.14 . ENST00000370557.5 . upstream downstream . ^(CGCTGCGCAGCAGCAACGACACAAAGCCTGACTTTACAACCTCAGAGAAAGTGGAAGTAAGAAGGCTTAGGTGGGCAGGCAGGACGAGAGAAAGACTGAGAGGAGGGAAAGCCGCGTAGGTGGGAGTACAGCGGCGCGAGGGTCGAGGGGGAACCCTCGTCGGTGCAGATGAGGAGGGTGGGCTTTCAGAACTAGTCCCCCCTCGCACCCCGCCCCGCCCCTCCCGCGCTGGGGTCTTCACGGTGCCCTGCCTCAGAGCCCGGCTCCACCACGCCCGGAAGAGGGAGTCTGGCCGTCGGCTGGCTCAGGGCGGGCCGGTTGGCTGTACCCAGGCTCCCTGGCCCGAGTGCGGGACCAGAGCGCGGGGCGGCGCGGCAGCCGCGGACCGAGGAGGGGCTGCGAGCGAAACGGCGCGGCGCGGCACGGCGGACGAGTTAGGGCCGGGGCGAGGGAGGCTGTGGCTCCCGACAGAGACAGGGGAGTAGTGTCGGGCTGAGGCGAGGTGAGGCGCGGGGTGCCTCGGGAGGGTTCCCCGTGCCCCGAGGGGGGCGGCCGCGGAGTCCAGCGGGGAGGCGGGCGGTGGTGCCGCGTCGGGGAAGAGCGCATCCCGCGGGGTGCCGAGCCCGGCGCTGGCGGAGAGACGGGGGCGCCCCCTCCCCACAGGAGGAGCCTCGCGCTCCTCCGCCATCCTTCCCCCGCGCGGCGGGCTCGCCTTCTCAGTGGGTGCTGCGCGAGCTGCCGGCCCGGGGTGCCGGGGCCAGATAAGGGCGATCCGCGGGGCCGCCGCCCCCGGGTCAGGCAGGCCGGGGGCGGGCCGCGAGTGAGGCGGGGCGGCGGCTAGGCTGCGGGCGGCTGGGGGGCGGGGGAGCGCGGAGAGCCGAGGGGGGCAGGCGGCGAGCGGGTGGCCCGGCCGCCCGCCTCGCTGCTCCGCTTGGCGCCGCCGGCCCA)CGCCGCAGTGTGTTTTGTGGACGGCGCCTTCCCAGACAGCCCGGTAGAGCCCAGCTCAGCGCCCGGCAGCCTTCGACGCGATGTTCCGCCGGAGCTTGAATCGTTTT|GGGTTCCATAAGACAAAAGGAAGATGAAATGAAGCAACCTCTCGTGCTAATGGAATATTTTC MFRRSLNRF|gfhktkgr* 05CO035 ENSG00000136141.15 ENSG00000118922.17 +/+ -/- chr13:46553703 chr13:73995053 CDS/splice-site 5'UTR inversion 1 1 0 33 2 high out-of-frame . Leucine_rich_repeat(100%)|Zinc_finger__C2H2_type(100%) . . ENSG00000136141.15 ENSG00000118922.17 ENST00000311191.10 ENST00000377669.6 downstream downstream . ^(CCGCAGTCCTTAGCTTCCCGGGGACAGGAAACCTTCAAGACCGAGCTGCCACGGCCGCCTCCCCGCCCGCCCCCCATTCTACGCGCCTGCCCACACCCTCCTCCCCTCCTTCCAGCGCCTTTCGGTGGAGCACTGCGGCACTCAGCCCGAGCTGCCGTTTTCCCCTCGCGGGGAACGCTGTGACCCCCCCGCAGGAGCGGCGGGGCGGGGTGGGGGGGCCCGGGAGAAGATGGCGACGCCGGGAAGCGAACCCCAACCTTTCGTCCCGGCCCTTTCGGTAGCTACTCTGCACCCACTTCATCATCCCCACCACCACCACCACCACCATCAGCACCACGGAGGAACCGGCGCCCCCGGCGGGGCGGGTGGTGGCGGCGGTGGCAGCGGGGGCTTCAACCTGCCCTTGAACCGGGGTCT)GGAGCGCGCGCTTGAGGAGGCGGCCAACTCCGGGGGGCTGAACCTGAGCGCCAGGAAATT?AAGGAATTTCCCCGTACCGCAGCCCCCGGGCACGACCTCTCGGACACGGTGCAGGCAG|GATCAATGTGACTCTAAGAACAAATGGATGAATGAATATCCATATGAAGAGAAAAACAATAAAG(___AATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGG___TCTCCAAACGTCCACAACTATCCCGATATGGAAGCCGTTCCCCTGTTGCTAAATAATGTGAAAGGGGAGCCCCCGGAGGACTCGTTATCTGTAGATCACTTCCAAACACAAACTGAGCCAGTGGACTTGTCAATAAACAAAGCCAGGACGTCCCCTACTGCCGTTTCATCCTCCCCAGTTTCCATGACAGCATCTGCCTCCTCACCTTCTTCAACTTCAACCTCTTCATCGTCTTCTAGTCGTCTAGCCTCATCCCCAACTGTTATCACATCAGTATCTTCAGCGTCATCTTCGTCAACAGTATTAACTCCAGGGCCCCTTGTGGCCTCTGCATCTGGTGTTGGAGGCCAGCAGTTTTTGCACATTATCCATCCCGTACCGCCTTCAAGTCCCATGAATTTACAGTCTAACAAACTGAGTCATGTTCACCGCATCCCCGTGGTGGTACAGTCGGTGCCTGTTGTCTACACAGCTGTAAGGTCACCTGGAAATGTGAACAACACTATTGTCGTGCCGCTTTTGGAGGATGGGAGAGGCCATGGCAAAG___CACAAATGGACCCCCGAGGCCTATCTCCCAGACAAAGTAAAAGTGACAGTGATGATGATGACCTGCCAAATGTGACCTTAGATAGCGTTAATGAAACTGGATCTACGGCCCTTTCCATAGCCAGAGCAGTACAAGA___GGTACATCCGTCCCCAGTATCAAGGGTCCGGGGCAATCGAATGAATAATCAAAAGTTTCCTTG___TTCAATTTCACCATTTAGTATTGAGAGCACAAGACGCCAGAGACGGTCTGAATCCCCAGACTCCAGAAAACGGCGTATCCACAGATGTGATTTTGAGGGATGCAACAAAGTGTACACAAAAAGTTCTCACCTGAAGGCTCACCGGAGGACACATACAG___GAGAGAAACCTTACAAGTGTACCTGGGAAGGCTGCACCTGGAAGTTCGCTCGTTCAGATGAACTGACGAGGCATTACCGCAAACATACGGGAGTGAAGCCATTCAAGTGCGCGGACTGTGATCGCAGCTTTTCCCGGTCAGATCATTTGGCCCTGCACCGCCGGAGGCATATGTTGGTGTGAGGAATGCTACCTGTCCAGCTGAGCGTAAGAGCTGGATCTCTTAGCGGCACCCAATTCAGCAGGGCTGAATCCCCTTCACAGTGTTAACACAAAAGGGCATCACCATCCCACGATGTCTGAAACCAGAGCAGGAAAAAGAAGGCACACTTCTTTTGGTCTGAAGGTAACCCCCATCATGACTAGACGAGAACCGTCTTTACCCGGGCCTGGGAGCTCAGTGACATAAATGCTGAAGAGACAGGCATTGTTTTCCGTGCTGTGTCCTCTGCCATTTAAAGATGTTTGTAGCTTGTACATTTTCTGAGCTGTCAGACATTTTGTTATTGATACCTTAAAGGTCACCTACCACAAATTGATGGCTAGAGCAAGACCTTTTAAATTTGGATGAATCTCCCATCATCCCATCCCTTAACCCCTTTTTACAGAAATTTTAGTTACAATCTGAGTAAGCTAGAACACACATCCAATCTGTTACCAGCAAGCAGCATGAAAGTAGAAACGAAGAAGCAGATGGAGAGGTCCCATTACCTGCAAAGAAAGGGCACTCAGGCAGCCCTTTGCAATCGCGATGGCAGCCACTAGATATCACTCTCAACTTGTCATTCTGCCATGCCCTGAAGAAAACCAACATTGAATCTTTCATTTGTTTGTCGTTGATTGTTTTTGTTTTGTTTCGATTCTGTTTTGTTCATCTGTTCGAGCAGAGGGGCAGTTGAAGTCTCGTCCTGGTCTCTGCCCTGGCATGGACTGGCACAGAGGTGTTCTGTAGTTGAATAGGAAGAGCCTGTCTAAAAAACTACTGCCCCACTTCAAATTGCAGTGTTCTGTCACCTAGGCATCATCTCTTCCTGCCCCTAGTATTTGATTACAAGGAACCAGGGGAAAAAAACTTTCTTAGACACACTGGCACCAAGGTAAGAGGTGGGGCTGCCCAGGCAAAGTCAGTGAACATGAAAACTCAGACAAAGCAGAGATGGAAATAATGCGCCTCTTGAGGAGAAAAGCAATAATGAATAAAAGGACTTTCCTACAATAACTTCACTGAGGACTCACGTTACCAATTTTCATACTTACTAAAGGGATTGTAAAAAACACCCCAGCATTTTAGGTGTCTTGGTTCCATTTACAGCACTGAGGTAATCTTTCTGCTGTTTGTTGTCCTGCTTGGTTGAGTACCACAATTAAAGATTATGCTCCCCTTTTCTTGTTTGAAAACAGTTATTTGGTGACTAGAAAGGCAAGGGAGGCATAGCCGGGAATTAACTCTTCGGTTAATGGGTCAGTTCTCCTTGGAACTGAATCAGTGGAAAGAGAATGCTTCCCATAGAAAGCCCGACATGGTGCTAGTTTCCTCTCTTGGAGAGCCAAGGATAAGTGACTCTCCAATAGGTTCTTCTATACCGATTTCATTTTCTAAACTGTATCAGGACCCAGGTGTCCTGCATTGGCATCTGCAGGGATATTGAACCCACTCATCCTGTGCAGAGGATGAGAGGAAGGTGTTAGTTCCATCAGCCCCATAAAATTATGAACCTTTTTGCAACTAGGAACATATACAGTAAACAAGCAATACATCACCAACGAGCATTCTTTCAGAAAAATTACCATATTTTTGTCCCCACCACAAGCTGGGTTTTTTTCCAGCTTTCTGTGGCTGAGGGGCTGGTGAGATTTTTTGTTGTTATTGTTGTTGTTGCTAGAATTTTTTATAGCTTAGATATAAAAGGTCTCCAACAAAGACCTTTGCAATATATTTTAATTACAAACACTTGATTTTGGGAATTGCACATATTAACCTCACAATATTACTAGCTCATTTTTAAATGTCTGGACATTCTGAAATAATTTCCGGTTACAGAATTACCCTTTTTAGGATCATCTTCTAATTCAGATAATCTTATTCTGATGAAGCGAGAACTATGAACGTTGAAACAAGGACAATTTGTGTTGGATGGTATTCAAAAGGAATTTTTTAAAACATTAAGCAACAGTGTAATGATTTTCAGGTCAAATTATGGCTTCACAAATATGTGCTCTATATTGTCTGCCAGGTCTCAAAAATTCATCAAGCAATTTCCCTCCAACAAGGGCTGCAGTTCTAGTGATAAATAGCATCTTTAGCTGCACAGTCTACTACTCATCAACCAGTGGGTTTTTTTTAGCACCTGGAAAGTTTTTTTGTACTATATGCAACTCCTACTTCACATTGCCTGTGACCATTCAGAATAGAAAAAGGTCTGTTGATGCATGCCAGTGCTGGTTACTAGTCAGTGACAGAGAACACAGAGAGGGACAAACACAGCCATGAACCCCCTGGCACTAGTACCAGCACCTAGTTGGCAAGTAGTGGGTGCATCTCTCAAGTGAAGTGTAGATTTGTATTTAGTCCTGCTTGCTCTCATAAAAAGAGCCAGTTCTTTTCTCTGCTGAAAGATGTCTTGAGAGTATTACAGGTAGACTTGGTTTTTAGAATTCATAAAACTGACAGGCAGGGGAATCTTCCTGAGTGACAGCTTGGTTTAAATTTAGCACAGAACTAGATGAGTTGCACTTTTCTAATAACATAGGATGGATTTGGGGAAGGGAACATTTTCCCTCATCCTCTGAAAGTGGAAACCAGACTGAGATGGTAAGTTAACTGATAAAACCTGTCAGCATTCCATCATTTTCCCCTTTTGACGTATCAGTACTTCTAAGAAGGGATCTAAGCACAATTAAGTGAATTGAGTCCCTGGTCTAGCCTCAGGAACTGAAACTTCTTTGGGGCTTGTCTTGAGACGTGGCAAATTCTCCTTGGTGAGTTTTCTAAAAGTATTTCCCCATGGAAAGGAGAAAGTGGTTTGGGACAGAAAGAAATGGAATGTCTTCAGTCATGGAAGAGCCTCCATTTCATCTCATGTCCATTTCTAGCCTCTTTCAAAAAGCACAGTGCATCATGAGCAACAGAAAAGCAGTAGAATCCTAAAGGACATAACAGTTGTTCCGTAACTAGAAGCATTCTTTGATTTTAAATTTGAAGCTGTTCAGTTTGCAGCTGGGGATATGTGCATGGTTGGGAACTTATACACATAGAGCCATTAACTACTTAAGCAGCTGCAGTAGACCTGATTTTCTGTTTGCAGTATAGAGATTGATTTCAAGGGAGTTACATTATTTGAAAAGTTATGACTTTCAGCCTTTGAGGTTTTAAGAATCCCTTTTCATGGTCTGATCTTAAGTTGTTTGAAAAAAGATTCACGCTTCTGCATCCACCTCTGCCCTCATTCTGTCAATTGTGTGTGGACTCTGAGAAGCCTGCTTGATAACTTGTCTTAAGTTCTATTAAGGCAGTTAGACTGAGATTTCTAATGACTTCACCATAAAGATTATACTTCTGCCTGGCGTCGTTTCTATAAAACACTATAGGACATTTGTTTTCAAAAGCAGTTGAGTAACAGCAACATAAACCACATTTTTTAAAAAAATGAGCACTTTTCATTCACTTGAAAGCTTAAGTGGGAAAAAGGAAGATGATTGTCAGGGGAAAAACTTACAAAATGCTACAGTGTTTACAAATGCCAGTTCCAGGTGATTAGAAAGGCCGTTTTCATTATGGTTCAGATTTGGAATAGCTTATGCAAAGATTGTGTTCATTTTTATACAATTCTTTTTAACTTTAAATTGCCATCTGTGTTTTAAACATAATTCTGCACTTTGGAATCAGTTCATTAGAATGATAACATTTATATGGATAAAGATGCAGTATTCCTTATTCTGTACTTGATTTATTATACTTACCAAAGCTGCAACTGAATAAATCTGGTGAGGTGAGGCCTTCAAAATGTATTAATACGCCTTTGTTATGTTGTTATGACTGCTTAGAAATGTAGCCATGATGTTGTTCTAAAGATGTCTTAACATTTATAGTGAGGATTGACAGAAATTAAGCAGTGTTAAGAATACCAGCATCCATGTTACAGTCTGCGTATAAGGGACTGAATGTGAGGTAACTCTTATGAATCATAATAGGCCCAGAAAGCCTTAATATTCATAGTTCATAATCCAGTCTCAGATTTTGCTCTTCAATGTTGCCTGTAAACTTAGCAGGTAAATGTATTCTAGTATAAAACATCATTGACCAAATCTCTTCCTTTAGTTTTTCTGAGGTAGTGCATCCCATTAAAAAAGTCTCTTCAATTAGATTTGGCTTTAGTTTAGAAAGGGGTTTGGTAAGTCATGTCTTCCATATGACATTTCTACTCATCCCCACACTGCCTTCCACTTAACCTGTACAGACAGCCCCAACACATGCACATGTGTGTACACAACTGTATATGCAGCAGCCAGTGGGCTAACAAATATCAGCAAAGAACTTTTTTAAAAAGAATTTGTAATAATCCGTGCTGTCTAGAAATGTGAGTTACTTACCTTATTAGGAAACCGGCTTATAATACTATATATGACTCTGCCTGCATTTTATAGTTAAGAAATGTACATAAAAATTGCTATATTTTCACAGTTTCATTATAATGTCTGTTTAGTAACCCATGTCCACTGATACTTTAAATATGCTAATTACTGAGCAATTGCAATAGAAATCCAGATTTTCATAAGAAAATGAAATAGAAGGATACTGCATCTTTAAAAAATAGAGTGAAGATATTTTACTGTATTCGTAACATATGTGATAGTGGAAAAAGTATTTTCAAACTCACAAATTTTACAGAGGTTGTAAATAGTTTGATGAAGTATGTTGGGAAAGAGAGCTTCTAGTTTTCATCACAATAAAAAGAAAAAACTTGTTCAGATATGCCTTGTATATCTTACACACAATGAGTGAAATTGCCATGGGAACTCTGTCCAACTTTGTCAGAGCATGCTCTTCGTGTTCTGTTCAAAATAGAGTGGCCACTTGTCATGGTTTAGCCAGGATGGTTTAAAATATAATGAAGTCATTTTAAGTTGCAGACAACTGATTCCAAACTAGTAATGTCTTTTCCTGAAAAGGGCAAAACAGCTGCACAGGATTTTGCTTGTACTAAAGAGGAGCATCTTACAATTGTTCTCTTTTCTCAGTTATCTCCCTCCTCAACAGAGTGTGAACAACCATACAGGTGTTTATTCTTGTTTTATTCCAGGGAGACTGCTTTTAGGTATAACTACATGTTGACAAGATTAAGTGCTGTGGATATGGCCACGTGTTAAAGGAATCTATACTCGCAATAGGAATAAGCTAATGCCCATTTTCAGAAATAAATTAAATGCTGAAAGTGCCTGTCAGTAAACCTTATGACCAATGAGATATTCCTATACTTTTACACAGCAATAATTCTTAATAAGACTGGGTTTTTTCCTGCACATGTGAACACACACACACATACACACAGAGAGAGTAAATACATACACATAGTAAATCAAATCTGTTCACATGCCCACAAAAAACGCTTTTATAGCTTTCAAATATACCTAATCTTGTTTACATTAACATTTCTTAATTTGATCTTTCTAACTTGCAGAACGTTAAGAACACAAATCTGAACATTAAGTTTATCTTCAGTGAACACTATTGCATATGGTAATTATAATTTCCAGATAAAAAGTTGACTGTCATTTGCCCCAAACTTATGAAACAGTATGTATGATTCAAAAAGTTTTGCTCAGTTAAAAACACCAATTTATTTGGCGCAAAAGACTGAAGGATATTTGTTTGCTTGTTCATTTTATCCACTCATATCAAACGCACAAATTCATCTTTACATTTCTTCATTCCCCTTTCCCCTAATATTTCCTATTATCATCTTAAGAATCATTTTGGAATGAATATTGACAGAATCATTTCTCCCCAAAAAGTCTGTTGAAGTACCACTGACACTTAGTAAGCCTAGCCTTTAACCATCTTTGCAGTTAGTCCTAAAAATTACCAGATGCACATTCAGAAGCTCACAGGTTTTTTCCTGTAATTACTGTACTGCTAAAAGTGGAGTCATGGATAGAAATATACAATGAGACTATATGAATAGACATGAACCCTGGAAATTCTCCAACCCTGCCATCTCAGAGCACAAATTCACCCAAACAAGCTACTGAGGCTATCAGTAAAATTATACTCATGGAGAGTCACACATCGGGTAAGGGCAATTTTAAAAGTAGGACTGTGATTAAACATTCAGGCTTTAGACTTCCATGATGGACTCAGACCACAGGCCTCAAAAAAACATCCACTGTTTTCTCCTCCCAATGTTAGAAAGAAGAAAAGGGAGACGGAAATGTACCAGGATAAGGGGGTAAAATAACCAATTAAGTGTCAAAGGAAAGCTGCTGGGTTCCTTAATCTCACTGAAGTCAAGTCTTCTGACTGGGCTTCTTACCATGTGTTGTCTGAAAAAACTAAAGTACCTTGAAAGGTTACACATTCAGCAAACCATGAAGATAATAGCTATTCTTTATTAAACACTGTGTGCCAAGCAATAGACTAGGCAATTTTTAGATACGTTACCTGCAACCTGTACAACATTTCTACACTTTATGGATGGGAAACGGAGACATGGGAAGTGTGGCTGAGTTGTTCATGGATGTAGAAATAGTAAACGGCAGAGTAGGAAAGTGAAACCGCCTATCTCTGACCTGGAGGTCTGCCTGTATCTTTCCCACTCCACCACACTGCACGTGGGTGTCCCGAAACCACCTTCCCAGATTCCTGACTCTCAGTAATTTTATTATGGACAACATGCATGAGTAGTCATCATATTTTTCAAGTGAAATATCGGGACATGATATAACACATGACTTAACAATGGTACTGAATATTTGAAATCAGGCCTTTCCCGGAAAATCATGCATGAAGGATCATTATAAACAAACAATAGCAACCAGTTGTCTCCCCGAACTTGTCACTTTTCTCATAAATGTCTGGCCTGGAGCTCCAAAATCATCCAAATACTTAGTAGCATTTTAGCCTGAGTACACTTTCTCAGTTCCTCAACTCTTTGTATACCTTTCCACCAATATAGACATTCTAGAATCTGCTTCAGATGCATTTGAAATTTTCACCCCCATGGAACTAGTGATTAATATCAGAGCCCACTCTTGCAGTTGGTAATGGGGTGGCAATCAAACGTTCAGATGATGATAAAGGAGAGATAATGGATAATTCTTTTTCAGAGTTCTCACTTAACAGCTCTGTTGTGGAATGTTTTAAATAGTCTTATAAATAATTTGTTTATAGTATTGTTGTTAGTTTAATTGAATTTTATGTAAGAAGCTGTCCAACATCAGAGAAATGAAATTCCTCCCACTTTCTGTGTAGAACAAGGTCTCTGACAGTATTGATTCATGGAAGTACTAATGGACTTAGAAAACATTAAGAGAATGTCATTTCTCATAGTGTTTCTGTTTCTGAAAATGAATCTCCTGAATTATTATCTTTCTCCCTGTTACTTGGCTGGGGAAAGAGATAGAAGCTGTATAAACAAATTCTCTTCCATGCTCAAAGCAAGTGTTCCATGTGCACAACCTGCTGCAGACTGGGGCCCTTCTCAGTTAATTGGGTTTCACAAGCAATAATTTCTCCACAACAAAAACCACAACTTGAAGTGAGTTGAAAAGAGATCAATAGTGGAAACAGTCGCCTCAGTACTTTTTCTTTCTGGATTTCATCTCTAGAAATTTGAAGTGTTTGAGACAGAGTCCACCCTTTGTGCAAGGCGAGAACCAATGAATGGACTCCTTGTGTGAATTATTGCATCTTCTTCCAAAGCAGGTTCATCAAGACTTTCACAGAGATTCATTTTTGTTGAGAAGTAAGGGTTAATAGGAGGATAGAATTTGGATCCAAATCTAGTGATAAAAGTGTCCAAGCAATCAAAAAGTAAGATATTTTAGGGACATACCAACATCTTCCCTTTCTGCTAATTTCATGCTCCAAAGATATGGCAAAAAAAAAAATCATAAAAAGTGCTTTTGCCCTACTTGTGTTCTAGTTTTCCCATGGCAGAATTTTGTAATTACATCCAGAATATAGTGTATATTTTGTTCCTCAAACTTTATTACATTGGATGGATATTGTTGAACTGGGGCACTGGTGCCTATATTCAAGGCTCTTTCCTATCAACGTGTCTGTCCACGATTTGTTGTGTTTAAAGCTTCATTTTGAAAAATCACTGTCCCCCTGTGGGGTAGTGACTGTATTGTTTTGTTCATGTCTATGTGGGACACATTGCATCACATGGCAAACCAACTCTCTGTGGATGTGAGATAAGTACTTATAAAACCAGCTTGAAAACATCGTCTTATGTATTATGTCATCCTGCATCATAATGCAATTATGTGTATCATAACATGCTCATTTAAAAAAAGAGAAACCAGCAAATTCATGTTTGTCCATAGAAGAATGTACTCAGAACTTTGTGTTGTGAAACGATGAGAACAGACCACCTTTAAGATACCCACCTGCCACTTAAAATGACTTAGTTATAATTAGTAGTAGTCTAGACGTTGTTCTTGGTGTGTGGGGGTCAATTCTAACGTCATGTTCTTTTGAATAAATCTCTCAGTCATATTTGAAAAAAAAATACATGGGAATAAAGAAAAATATCATCTTTGGCCAAATCAAGCAGGCATCTTTTTTCTTTTCCTTGACGTTTAGCTCATTATACGTGGTGATTGGATCACGAGATCTGTCCGTGTGAAAATACAGAAACATCCTTTAGTTTACAAAACAGTTATTCTAGGCTTGAAGCCTCTGAACAGCAAATTGAATAGATGGGCTGCATCTGATTTGCTTTATGGATGTAATTTTACAAAACACTCTTGGGTCTCTGACCCCAGGGAGTTAAGAGTGCCCAGAGGAGGTCCTACACATTAAAGGATAAAGCCCCCCAGTGATGCTGGCAAGCAAATGTGTTGAGTTCTTAAATCTTCATTTGGTTTTCTGTTCAGGATTTTAATTGCAAATGAATTTATTTCTCCAGTTTATCTAAAGACCTAATTTCCCAATAGTTTCCTCTGCATTTATATACTCTGTAGTGTTTAGGCAACCCTGTTATAAGTTTATTAATATTATGTAAGTGTTGTTCTTGTATTTATGTATAGTGTATGTATTGTAAATATACTCAGAGCTTTTTTCCTTTTACTGTAAAATGGTGATTTTTTTGCCCTATGATAATGTAAAGGGAGACCCTCCTAATGAGATTCTCTCAGAGGATGATTATTCCAGTCTATTCTCAGAGATTTAAATGAACAAGTGTTATTGTTTTTAATGGTGTCTCAGACATATTCTGTTGGTGCATTGCTTTTCTGTATTCAACTTTCCTATGAATTGAGCTGTGAACTGAAATAGAGTTTAAACCTTTAACTGTATGCATTTGTATAATTATCTGAATGAAGGCATGAAGGTTAAATAAAGCATTTTGTATGGAACAAAA)$ MATPGSEPQPFVPALSVATLHPLHHPHHHHHHHQHHGGTGAPGGAGGGGGGSGGFNLPLNRGLERALEEAANSGGLNLSARK?KEFPRTAAPGHDLSDTVQA|gsm* 05CO035 ENSG00000132326.12 ENSG00000160323.18 -/- +/+ chr2:238261729 chr9:133437749 CDS/splice-site CDS/splice-site translocation 0 10 0 75 22 medium in-frame . PAS_fold(100%)|Thrombospondin_type_1_domain(100%) . . ENSG00000132326.12 ENSG00000160323.18 ENST00000254657.8 ENST00000371916.5 upstream upstream . ^(CGTAACCGCCGCCGGCGCGCGGGCCTCGGGCAGGTCGGGGTCCCAGCGCCGGCTCGGGCAGCGGAGGCGCCGCCGGAAGTTCCTTGGGCTGCTGGACTCCTCGGCTTGAAACGGCGCCGGCGTGGGGGCGTGTGCCCTTGGCCCTGTCCCAGGTGGAGAGTGGTCGAGCCGCGCGCAGGGTGCGCTCGTTTGAACTGCGGTGACACCGAGGGTTGGGGACTCGAACCCCCGCTTCGCAGCTCAGGAGCCTGAGGTCCGAAAG___CTTCGTTCCAGAGCCCAGCATGAATGGATACGCGGAATTTCCGCCCAGCCCCAGTAACCCCACCAAGGAGCCCGTGGAGCCCCAGCCCAGCCAGGTCCCACTGCAGGAAGATGTGGACATGAGCAGTGGCTCCAGTGGACATGAGACCAACGAAAACTGCTCCACGGGGCGGGACTCGCAGGGCAGTGACTGTGACGACAGTGGGAAGGAGCTGGGGATGCTGGTGGAGCCACCGGATGCCCGCCAGAG___TCCAGATACCTTTAGCCTGATGATGGCAAAATCTGAACACAACCCATCTACAAGTGGCTGCAG___TAGCGACCAGTCTTCGAAAGTGGACACACACAAAGAACTGATAAAAACACTAAAGGAGCTGAAGGTCCACCTCCCTGCAGACAAGAAGGCCAAGGGCAAGGCCAGTACGCTGGCCACCTTGAAGTACGCCCTCAGGAGCGTGAAGCAGGTGAAAG___CCAATGAAGAGTATTACCAGCTGCTGATGTCCAGCGAGGGTCACCCCTGTGGAGCAGACGTGCCCTCCTACACCGTGGAGGAGATGGAGAGCGTTACCTCTGAGCACATTGTGAAGAATGCC___GATATGTTTGCGGTGGCCGTGTCCCTGGTGTCTGGGAAGATCCTGTACATCTCTGACCAGGTTGCATCCATATTTCACTGTAAAAGAGATGCCTTCAGCGATGCCAAGTTTGTGGAGTTCCTGGCGCCTCACGATGTGGGCGTGTTCCACAGTTTCACCTCCCCGTACAAGCTTCCCTTGTGGAGCATGTGCAGTGGAGCAG___ATTCTTTTACTCAAGAATGCATGGAGGAGAAATCTTTCTTTTGCCGTGTCAG___TGTCCGGAAAAGCCACGAGAATGAAATCCGCTACCACCCCTTCCGCATGACGCCCTACCTGGTCAAGGTGCGGGACCAACAAGGTGCTGAGAGTCAGCTTTGCTGCCTTCTGCTGGCAGAGAGAGTGCACTCTGGTTATGAAG___CCCCTAGAATTCCTCCTGAAAAGAGAATTTTTACAACCACCCATACACCAAATTGTTTGTTCCAGGATGTGGATGAAAG___GGCGGTCCCTCTCCTGGGCTACCTACCTCAGGACCTGATTGAAACCCCAGTGCTCGTGCAGCTCCACCCTAGTGACAGGCCCTTGATGCTGGCCATCCACAAAAAGA___TCCTGCAGTCAGGCGGGCAGCCTTTCGACTATTCTCCCATTCGGTTTCGCGCCCGGAACGGAGAGTACATCACGTTGGACACCAGCTGGTCCAGCTTCATCAACCCATGGAGCAGGAAAATCTCCTTCATCATTGGGAGGCACAAAGTCAGGGT___GGGCC)CTTTGAATGAGGACGTGTTTGCAGCCCACCCCTGCACAGAGGAGAAGGCCCTGCACCCCAGCATTCAGGAGCTCACAGAGCAGATCCACCGGCTCCTGCTGCAG|GGGATGCTCTGTG----CACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGG___ACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAG(___AATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGG___CGGTGAGGATCGGAGGGCGCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTCCTGGAGGATGGTCGTGTCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAG___GTGGGAGGTGTCAGAGCCCAGCTCATGCACATCAGCTGGTGGAGCAGGCCTGGCCTTGGAGAACGAGACCTGTGTGCCAGGGGCAGATGGCCTGGAGGCTCCAGTGACTGAGGGGCCTGGCTCCGTAGATGAGAAGCTGCCTGCCCCTGAGCCCTGTGTCGGGATGTCATGTCCTCCAGGCTGGGGCCAT___CTGGATGCCACCTCTGCAGGGGAGAAGGCTCCCTCCCCATGGGGCAGCATCAGGACGGGGGCTCAAGCTGCACACGTGTGGACCCCTGCGGCAGGGTCGTGCTCCGTCTCCTGCGGGCGAG___GTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCG___GTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAG___GTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAG___TGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGG___GTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGG___GGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAG___AATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTG___ATCCGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCCTGGAAGGGAAAGGAAGGAACCTGAGGGTCATTGAACATTTGTTCCGTGTCTGGCCAGCCCTGGAGGGTTGACCCCTGGTCTCAGTGCTTTCCAATTCGAACTTTTTCCAATCTTAGGTATCTACTTTAGAGTCTTCTCCAATGTCCAAAAGGCTAGGGGGTTGGAGGTGGGGACTCTGGAAAAGCAGCCCCCATTTCCTCGGGTACCAATAAATAAAACATGCAGGCTGACCGGCGTTTTTTTCTT)$ MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQVASIFHCKRDAFSDAKFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRDQQGAESQLCCLLLAERVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINPWSRKISFIIGRHKVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQ|gmlcAHVPGHWRELHHEAWRQLPRWDPVYAKWPPGGRDPEPVCVGQLQDIWL* 05CO035 ENSG00000132326.12 ENSG00000160323.18 -/- +/+ chr2:238261729 chr9:133439366 CDS/splice-site CDS/splice-site translocation 0 3 0 75 36 medium out-of-frame . PAS_fold(100%)|Thrombospondin_type_1_domain(100%) . . ENSG00000132326.12 ENSG00000160323.18 ENST00000254657.8 ENST00000371916.5 upstream upstream . ^(CGTAACCGCCGCCGGCGCGCGGGCCTCGGGCAGGTCGGGGTCCCAGCGCCGGCTCGGGCAGCGGAGGCGCCGCCGGAAGTTCCTTGGGCTGCTGGACTCCTCGGCTTGAAACGGCGCCGGCGTGGGGGCGTGTGCCCTTGGCCCTGTCCCAGGTGGAGAGTGGTCGAGCCGCGCGCAGGGTGCGCTCGTTTGAACTGCGGTGACACCGAGGGTTGGGGACTCGAACCCCCGCTTCGCAGCTCAGGAGCCTGAGGTCCGAAAG___CTTCGTTCCAGAGCCCAGCATGAATGGATACGCGGAATTTCCGCCCAGCCCCAGTAACCCCACCAAGGAGCCCGTGGAGCCCCAGCCCAGCCAGGTCCCACTGCAGGAAGATGTGGACATGAGCAGTGGCTCCAGTGGACATGAGACCAACGAAAACTGCTCCACGGGGCGGGACTCGCAGGGCAGTGACTGTGACGACAGTGGGAAGGAGCTGGGGATGCTGGTGGAGCCACCGGATGCCCGCCAGAG___TCCAGATACCTTTAGCCTGATGATGGCAAAATCTGAACACAACCCATCTACAAGTGGCTGCAG___TAGCGACCAGTCTTCGAAAGTGGACACACACAAAGAACTGATAAAAACACTAAAGGAGCTGAAGGTCCACCTCCCTGCAGACAAGAAGGCCAAGGGCAAGGCCAGTACGCTGGCCACCTTGAAGTACGCCCTCAGGAGCGTGAAGCAGGTGAAAG___CCAATGAAGAGTATTACCAGCTGCTGATGTCCAGCGAGGGTCACCCCTGTGGAGCAGACGTGCCCTCCTACACCGTGGAGGAGATGGAGAGCGTTACCTCTGAGCACATTGTGAAGAATGCC___GATATGTTTGCGGTGGCCGTGTCCCTGGTGTCTGGGAAGATCCTGTACATCTCTGACCAGGTTGCATCCATATTTCACTGTAAAAGAGATGCCTTCAGCGATGCCAAGTTTGTGGAGTTCCTGGCGCCTCACGATGTGGGCGTGTTCCACAGTTTCACCTCCCCGTACAAGCTTCCCTTGTGGAGCATGTGCAGTGGAGCAG___ATTCTTTTACTCAAGAATGCATGGAGGAGAAATCTTTCTTTTGCCGTGTCAG___TGTCCGGAAAAGCCACGAGAATGAAATCCGCTACCACCCCTTCCGCATGACGCCCTACCTGGTCAAGGTGCGGGACCAACAAGGTGCTGAGAGTCAGCTTTGCTGCCTTCTGCTGGCAGAGAGAGTGCACTCTGGTTATGAAG___CCCCTAGAATTCCTCCTGAAAAGAGAATTTTTACAACCACCCATACACCAAATTGTTTGTTCCAGGATGTGGATGAAAG___GGCGGTCCCTCTCCTGGGCTACCTACCTCAGGACCTGATTGAAACCCCAGTGCTCGTGCAGCTCCACCCTAGTGACAGGCCCTTGATGCTGGCCATCCACAAAAAGA___TCCTGCAGTCAGGCGGGCAGCCTTTCGACTATTCTCCCATTCGGTTTCGCGCCCGGAACGGAGAGTACATCACGTTGGACACCAGCTGGTCCAGCTTCATCAACCCATGGAGCAGGAAAATCTCCTTCATCATTGGGAGGCACAAAGTCAGGGT___GGGCCCTTTGAATGAGGACGTGTTTGCAGCCCACCCCTGCACAGAGGAGAA)GGCCCTGCACCCCAGCATTCAGGAGCTCACAGAGCAGATCCACCGGCTCCTGCTGCAG|AATATGTCACaTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGG___CGGTGAGGATCGGAGGGCaCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTCCTGGAGGATGGTCGTG(TCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAG___GTGGGAGGTGTCAGAGCCCAGCTCATGCACATCAGCTGGTGGAGCAGGCCTGGCCTTGGAGAACGAGACCTGTGTGCCAGGGGCAGATGGCCTGGAGGCTCCAGTGACTGAGGGGCCTGGCTCCGTAGATGAGAAGCTGCCTGCCCCTGAGCCCTGTGTCGGGATGTCATGTCCTCCAGGCTGGGGCCAT___CTGGATGCCACCTCTGCAGGGGAGAAGGCTCCCTCCCCATGGGGCAGCATCAGGACGGGGGCTCAAGCTGCACACGTGTGGACCCCTGCGGCAGGGTCGTGCTCCGTCTCCTGCGGGCGAG___GTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCG___GTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAG___GTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAG___TGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGG___GTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGG___GGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAG___AATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTG___ATCCGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCCTGGAAGGGAAAGGAAGGAACCTGAGGGTCATTGAACATTTGTTCCGTGTCTGGCCAGCCCTGGAGGGTTGACCCCTGGTCTCAGTGCTTTCCAATTCGAACTTTTTCCAATCTTAGGTATCTACTTTAGAGTCTTCTCCAATGTCCAAAAGGCTAGGGGGTTGGAGGTGGGGACTCTGGAAAAGCAGCCCCCATTTCCTCGGGTACCAATAAATAAAACATGCAGGCTGACCGGCGTTTTTTTCTT)$ MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQVASIFHCKRDAFSDAKFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRDQQGAESQLCCLLLAERVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINPWSRKISFIIGRHKVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQ|nmshf* 05CO035 ENSG00000188976.11 ENSG00000004534.15 -/- +/- chr1:952090 chr3:49983952 CDS intron translocation/5'-5' 2 1 1 144 5 medium out-of-frame . Noc2p_family(74%)| . . ENSG00000188976.11 ENSG00000004534.15 ENST00000327044.7 . upstream downstream . ^(GCTTCGGGTTGGTGTCATGGCAGCTGCGGGGAGCCGCAAGAG___GCGCCTGGCGGAGCTGACGGTGGACGAGTTCCTAGCTTCGGGCTTTGACTCCGAGTCCGAATCCGAGTCCGAAAATTCTCCACAAGCGGAGACACGGGAAGCACGCGAGGCTGCCCGGAGTCCGGATAAGCCGGGCGGGAGCCCCTCGGCCAG___CCGGCGTAAAGGCCGTGCCTCTGAGCACAAAGACCAGCTCTCTCGGCTGAAGGACAGAGACCCCGAGTTCTACAAGTTCCTGCAGGAGAATGACCAGAGCCTGCTAAACTTCAGCGACTCGGACAGCTCTGAGGAGGAAGAGGGGCCGTTCCACTCCCTGCCAGATGTGCTGGAG___GAAGCCAGTGAGGAGGAGGATGGAGCGGAGGAAGGAGAAGATGGGGACAGAGTCCCCAGAGGGCTGAAGGGGAAGAAGAATTCTGTTCCTGTGACCGTCGCCATGGTTGAGAGATGGAAGCAGGCAGCAAAG___CAACGCCTCACTCCAAAGCTGTTCCATGAAGTGGTACAGGCGTTCCGAGCAGCTGTGGCCACCACCCGAGGGGACCAGGAAAGTGCTGAGGCCAACAAATTCCAGGTCACGGACAGTGCTG___CATTCAATGCTCTGGTTACCTTCTGCATCAGAGACCTCATTGGCTGTCTCCAGAAGCTGCTGTTTGGAAAGGTGGCAAAGGATAGCAGCAG___GATGCTGCAGCCGTCCAGCAGCCCGCTCTGGGGGAAGCTTCGTGTGGACATCAAGGCTTACCTGGGCTCGGCCATACAG___CTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAG___AGAATGGTGATCGTATGGAGCACTGGGGAAGAGTCTCTGCGGGTGCTGGCTTTCCTGGTCCTCAGCAGAGTCTGCCGGCACAAGAAGGACACTTTCCTTGGCCCCGTCCTCAAG___CAAATGTACATCACGTATGTGAGGAACTGCAAGTTCACCTCGCCTGGTGCCCTCCCCTTCATCAGTTTCATGCAGTGGACCTTGACGGAGCTGCTGGCCCTGGAGCCGGGTGTGGCCTACCAGCACGCCTTCCTCTACATCCGCCAGCTCGCCATACACCTGCGCAACGCCATGACCACTCGCAAGAAG___)GAAACATACCAGTCTGTGTACAACTGGCAGTATGTGCACTGCCTCTTCCT|AATTAACCCTTGTTCCAGGACCTCTCTCACCAGGATCACCTGATCCCTGCAGCACTGAATCACAGATTCTTCCCTAGGCCAGCCAAAGCGTCCATCCACTGCCTCCACAAGACTAGCCCAGCCCTATTAGTGTCTCCTGCCTTCCTAAACATTTTGATTTTTTAAGCTCAGCCACCTTAAGGAAACTAAGTTTCCTTAAATTTCAACTGCCACATCC MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFl|inpcsrtsltrit* 05CO037 ENSG00000077549.19 ENSG00000186153.17 -/- +/+ chr1:19378540 chr16:79211608 CDS/splice-site CDS/splice-site translocation 29 6 3 1033 116 high out-of-frame . F-actin_capping_protein__beta_subunit(100%)|short_chain_dehydrogenase(100%) . . ENSG00000077549.19 ENSG00000186153.17 ENST00000264202.8 ENST00000566780.6 upstream upstream duplicates(1) ^(ATGTTCACTCCTGGGCACCCGGGGAAGTGGAAGCGCCGGGCCCTGCTGCGGGGGGGAGAGCCACTGACGCCGGGACCGGGACCGCCGCCGCCGCCGCCACCATG___AGTGATCAGCAGCTGGACTGTGCCTTGGACCTAATGAGGCGCCTGCCTCCCCAGCAAATCGAGAAAAACCTCAGCG)ACCTGATCGACCTG___GTCCCCAGTCTATGTGAGGATCTCCTGTCTTCTGTTGACCAGCCACTGAAAATTGCCAGAGACAAGGTGGTGGGAAAGGATTACCTTTTGTGTGACTACAACAGAGATGGGGACTCCTATAG___GTCACCATGGAGTAACAAGTATGACCCTCCCTTGGAGGATGGGGCCATGCCGTCAGCTCGGCTGAGAAAGCTGGAGGTGGAAGCCAACAATGCCTTTGACCAGTATCGAGACCT|CAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCC(AGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCA)$ MSDQQLDCALDLMRRLPPQQIEKNLSDLIDLVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDl|nrelpppctvllsqnwrvwegctsttaaaacphqklrakrrpgpcgrsarg* 05CO037 ENSG00000077549.19 ENSG00000186153.17 -/- +/+ chr1:19378540 chr16:78756940 CDS/splice-site CDS/splice-site translocation 7 16 4 1033 28 high out-of-frame . F-actin_capping_protein__beta_subunit(100%)|short_chain_dehydrogenase(100%) . . ENSG00000077549.19 ENSG00000186153.17 ENST00000264202.8 ENST00000539474.6 upstream upstream . ^(ATGTTCACTCCTGGGCACCCGGGGAAGTGGAAGCGCCGGGCCCTGCTGCGGGGGGGAGAGCCACTGACGCCGGGACCGGGACCGCCGCCGCCGCCGCCACCATG___AGTGATCAGCAGCTGGACTGTGCCTTGGACCTAATGAGGCGCCTGCCTCCCCAGCAAATCGAGAAAAACCTCAGCGACCTGATCGACCTG___GTCCCCAGTCTATGTGAGGATCT)CCTGTCTTCTGTTGACCAGCCACTGAAAATTGCCAGAGACAAGGTGGTGGGAAAGGATTACCTTTTGTGTGACTACAACAGAGATGGGGACTCCTATAG___GTCACCATGGAGTAACAAGTATGACCCTCCCTTGGAGGATGGGGCCATGCCGTCAGCTCGGCTGAGAAAGCTGGAGGTGGAAGCCAACAATGCCTTTGACCAGTATCGAGACCT|GAAAAGCCAGCTGCCATGTTGGGAGGATACTCAAGCATACCCGTGTAGAAGAACTGAGCCTCCTGCCAACAGCCAT(___CAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCA)$ MSDQQLDCALDLMRRLPPQQIEKNLSDLIDLVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDl|ksqlpcwedtqaypcrrteppanshqqgaattvycaavpeleglggmyfnnccrcmpspeaqseetartlwalserliqerlgsqsg* 05CO037 ENSG00000077549.19 ENSG00000186153.17 -/- +/+ chr1:19378540 chr16:78691242 CDS/splice-site CDS/splice-site translocation 0 1 4 1033 3 medium out-of-frame . F-actin_capping_protein__beta_subunit(100%)|short_chain_dehydrogenase(100%) . . ENSG00000077549.19 ENSG00000186153.17 ENST00000264202.8 ENST00000408984.7 upstream upstream . ^(ATGTTCACTCCTGGGCACCCGGGGAAGTGGAAGCGCCGGGCCCTGCTGCGGGGGGGAGAGCCACTGACGCCGGGACCGGGACCGCCGCCGCCGCCGCCACCATG___AGTGATCAGCAGCTGGACTGTGCCTTGGACCTAATGAGGCGCCTGCCTCCCCAGCAAATCGAGAAAAACCTCAGCGACCTGATCGACCTG___GTCCCCAGTCTATGTGAGGATCT)CCTGTCTTCTGTTGACCAGCCACTGAAAATTGCCAGAGACAAGGTGGTGGGAAAGGATTACCTTTTGTGTGACTACAACAGAGATGGGGACTCCTATAG___GTCACCATGGAGTAACAAGTATGACCCTCCCTTGGAGGATGGGGCCATGCCGTCAGCTCGGCTGAGAAAGCTGGAGGTGGAAGCCAACAATGCCTTTGACCAGTATCGAGACCT|GTTTCAGACTGCCTGGTAGAAGGAGGTCACTTCTGATTGTCAGTGACTTTG(___AGCTGAGTGCTGAAATAAAATGATAAACAAGTCAA)$ MSDQQLDCALDLMRRLPPQQIEKNLSDLIDLVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDl|fqtaw* 05CO037 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 2 16 0 13 23 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) GTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGAC(ACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO037 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 10 0 32 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACA)GGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO037 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 2 0 119 25 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|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO037 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 8 2 1 16 12 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . ATAACCGGATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCC(ATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO037 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 7 3 0 103 13 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream . ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATG)GGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCtGGCGTGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTT MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 05CO039 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 34 36 4 87 115 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(3) GCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACC(TTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO039 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 27 12 0 317 86 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAG)AGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCC...AGCAAGGCTAGAGGGGACTCTCAGCTTCGCCTTGCCCTCCTCTTTCCTCACTGGTGTAATGCGTATATTAATTTGTCTTCAGGTAAAACTGGACTAAGAGGGGAAATGACTAAGAGGGGAAATGACATAGAGGTCTTGGAGTGAGGAGAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO039 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 9 5 0 62 22 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismappers(2) CGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAG(TACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO039 ENSG00000285677.2 ENSG00000116584.20 +/- -/- chr1:156002441 chr1:155989351 exon CDS/splice-site deletion/read-through/3'-3' 10 3 0 58 62 high . . |RhoGEF_domain(100%) . . ENSG00000285677.2 ENSG00000116584.20 . ENST00000673475.1 upstream downstream duplicates(3) GGAAGGGCTACAGTGGATGAAGAGGCAGCTGATCTGGACTGGAATGAGTCCCCCCTTTCTCTTATGCAAACTTCTGGACCATGAACAGCTCCCTTAAAAGGACCAAGAGAGAGGGGACCCCCACCAAAGTGCTGGACTGGGTTCTTAAAGGGGCCACCTGAAGCAGGACTTTTTCCCACACTGAAGTCACCAACTGACAGCAGAAACAGGTCCCCCATCTTTGGGATATCTCCCAGTTCTG|GAGGAGACTGCAAGCATCGGGATGCCCAGGCCCCAAGGAGGCCCTCTTCCTGCAGATCCGAGAAGGACTGGACACCTTTCTGGGACTGCAGCACCAGGGTGGCTACGCCTCCCGGCTG___GATCAGGATTCCTGTCATCCATCTGCTGGCCCTTTGGACCACTCGGCCACTGGCATGCTTTCCAAGTCTGTACCCGTGAGTGGCATCAACTGTCTCTTGGAC(CGTTCGGATACAGATG___GGAATGTATCCCAGTCCTCTGCCATTGACCTCAGGAAACG___CTGCAGCCAGCTGGAAGGACATTCAGGTACCCGGGTAGGCTCCTCCCTGCGACAGACCTTCAGCTTCCTCTCGGGCATGACCGGAAAGGCCAAG___ACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGCTATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAA___CCTGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAG___CAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTGCAGTCCGTTTCTCTTCGAAGTAAGA___CAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGCCGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGG___ACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACAGACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAG___CAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAGGACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATG___AGCTAATCCAGACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTCCCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATCCATCGCTTGGGTGATCTGCTCATCAGCCAG___TTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAGCTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGG___AAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTGCTGGTGACTCAGCGCATCACCAAGTACCCGTTACTCATCAGCCGCATCCTGCAGCATTCCCACG___GGATCGAGGAGGAGCGCCAGGACCTGACCACAGCACTGGGGCTAGTGAAGGAGCTGCTGTCCAATGTGGACGAGGGTATTTATCAGCTGGAGAAAGGGGCCCGTCTGCAGGAGATCTACAACCGCATGGACCCTCGGGCCCAAACCCCAGTGCCTGGCAAGGGCCCCTTTGGCCGAGAGGAACTTCTGAGGCGCAAACTCATCCACGATGGCTGCCTGCTCTGGAAGACAGCGACGGGGCGCTTCAAAG___ATGTGCTAGTGCTGCTGATGACAGATGTACTGGTGTTTCTCCAGGAAAAGGACCAGAAGTACATCTTTCCTACCCTG___GACAAGCCTTCAGTGGTATCGCTGCAGAATCTAATCGTACGAGACATTGCCAACCAGGAGAAAGGGATGTTTCTGATCAGCGCAGCCCCACCTGAGATGTACGAGGTGCACACAGCATCCCGGGATGACCGGAGCACCTGGATCCGGGTCATTCAGCAGAGCGTGCGCAC___ATGCCCATCCAGGGAGGACTTCCCCCTGATTGAGACAGAGGATGAGGCTTACCTGCGGCGAATTAAGA___TGGAGTTGCAGCAGAAGGACCGGGCACTGGTGGAGCTGCTGCGAGAGAAGGTCGGGCTGTTTGCTGAGATGACCCATTTCCAGGCCGAAGAGGATGGTGGCAGTGGGATGGCCCTGCCCACCCTGCCCAGGGGCCTTTTCCGCTCTGAGTCCCTTGAGTCCCCTCGTGGCGAGCGGCTGCTGCAGGATGCCATCCGTGAGG___TGGAGGGTCTGAAAGACCTGCTGGTGGGGCCAGGAGTGGAACTGCTCTTGACACCCCGAGAGCCAGCCCTGCCCTTGGAACCAGACAGCGGTGGTAACACGAGTCCTGGGGTCACTGCCA___ATGGTGAGGCCAGAACCTTCAATGGCTCCATTGAACTCTGCAGAGCTGACTCAGACTCTAGCCAGAGG___GATCGAAATGGAAATCAGCTGAGATCACCGCAAGAG___GAGGCGTTACAGCGATTGGTCAATCTCTATGGACTTCTACATGGCCTACAG___GCAGCTGTGGCCCAGCAGGACACTCTGATGGAAGCCCGGTTCCCTGAGGGCCCTGAGCGGCGGGAGAAGCTGTGCCGAGCCAACTCTCGGGATGGGGAGGCTGGCAGGGCTGGGGCTGCCCCTGTGGCCCCTGAAAAGCAGGCCACGGAACTGGCATTACTGCAGCGGCAACATGCGCTGCTGCAGGAGGAGCTACGGCGCTGCCGGCGGCTAGGTGAAGAACGGGCAACCGAAGCTGGCAGCCTGGAGGCCCGGCTCCGGGAGAGTGAGCAGGCCCGGGCACTGCTGGAGCGTGAGGCCGAAGAGGCTCGAAGGCAGCTGGCCGCCCTGGGCCAGACCGAGCCACTCCCAGCTGAGGCCCCCTGGGCCCGCAGACCTGTGGATCCTCGGCGGCGCAGCCTCCCCGCAGGCGATGCCCTGTACTTGAGTTTCAACCCCCCACAG___CCCAGCCGAGGCACTGACCGCCTGGATCTACCTGTCACTACTCGCTCTGTCCATCGAAACTTTGAGGACCGAGAGAGGCAGGAACTGGGGAGCCCCGAAGAGCGGCTGCAAGACAGCAGTGACCCTGACACTGGCAGCGAGGAGGAAGGTAGCAGCCGTCTGTCTCCGCCCCACAGTCCACGAG___ACTTTACCAGAATGCAGGACATCCCGGAGGAGACGGAGAGCCGCGACGGGGAGGCTGTAGCCTCCGAGAGCTAAGGGGGCCCCTCCCCCCTGCCCCGTGCCCCACTGAAGAACATTACTGAGGGGGCTAACCTTGGGGACTCCAATTTGCCAATGATGAGGGAACATTTGAAAGAACTGCAAATTGTCCTTGCCAGCTCTTGGGATCCTTGGATACCTGGGGCCATTTAAGAAGCTAGGGGAATTAGGCCACAACACCCCCTGGGACATCCGAAAGCTACACCACAGATGCCAGTGGTTCATGCCTTCTTCCCGCAACTTTAGGAAAATTTATTTATTTATTGTTTATTAGTTATGGGGGGAGAGGGGAGATTTAAAGGACCAGGGACATGGGAACCAAGCCATAGGGATCAGAGGGCCTTGTCCTTGAACACTACTGGGGTATATTCAGGCTCATCCACGCAGCTGCTGGGTTCTTGCCCTAACGGCCCTCCCCTGCAACATCCGTCTTGGAGGAGAGGCTGCAGCCACAGCACCCTACTGCCCTTTAAATAAAGGAGGGCTGTGGGCAGGGCCATGTCCCTTTCTCCTCTCCCCTCAACCTCTTACTGCTGTTCTCCCTTTCTCCGTCCTTCATGGAAGCCCTGGGAGATAACCTGGCTTCCTGGAGTTGATGGAATAAAGGTTGGGGTGGCCATAATGGTTTGTTGGGGGTGAGGGAAAAAACCCACAGGGACCAGAATGTTTTGTTGTTCTTTTGTTTTCTTTTTTGTACCAAAGTCAACTGCACGTGTTTTATATTTTTAAGAGATCGTAGGCAATTAGAGATCGAAGCCTCCTATCTCCACATCTCTGAAGAAGTTGAGGGGTGGGGGAGAGAATGACTTCTGCCTTCATCTGCAGTAACGGGGGGACCTATACTGACCTCTTCCCCAGCCATTTAGAAACAAGTTCTAGGGTGGGTTGGAAAATCTCCAAGAGCCCTGACCTCATCTTCCACCTCAGCAACCATGACCTGAAACCTCAGCGTGAATTTGGGGGATTTTTCAGTGGAACCCTTGCCCCCAAATGTCGACCAGCCCCCAAATGTCGAAGAATTTTCTTCTTGCCAATTTTGTTGTTTAAAAAAAAAATTCAGGGAAAATTAAAAACCTGGAACTCC)$ . 05CO039 ENSG00000250358.6(65443),ENSG00000134982.17(30003) ENSG00000134982.17 ./+ +/+ chr5:112707882 chr5:112754873 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 11 22 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 . GAGCTGCGGACCGAGGTTGGCTCGATGCTGTTCCCAGGTACTGTTGTTGGCTGTTGGTGAGGAAGGTGAAGCACTCAGTTGCCTTCTCGGGCCT___...CCGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGGGCGGCGCTCGTACTTCTGGCCACTGGGCGAGCGTCTGGCAG|GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAG(CTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG___GGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAG___GTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGGCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA___TGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAG___GGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG___GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAG___GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAG___GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG___GCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAGGAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAATGAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTGAAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGATTGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCTGCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCAGGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAGATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACTGGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAACATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGCCCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCAGAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCTAGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGTTCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAACAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGACTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCTTCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAGTCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCTTCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAAACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGAAGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCAATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGAGTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCCAGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAAAGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTTTCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCAAAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGAATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCCCCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAATCAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAATCGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACCCCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGAGTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCTCGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACTGACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTGACATCTGTTTAAAAGAGAGGAAGAATGAAACTAAGAAAATTCTATGTTAATTACAACTGCTATATAGACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATTTTGTAAATAGGTTTGATTCTTGTTAGAGGGTTTTTGTTCTGGAAGCCATATTTGATAGTATACTTTGTCTTCACTGGTCTTATTTTGGGAGGCACTCTTGATGGTTAGGAAAAAAATAGTAAAGCCAAGTATGTTTGTACAGTATGTTTTACATGTATTTAAAGTAGCATCCCATCCCAACTTCCTTTAATTATTGCTTGTCTTAAAATAATGAACACTACAGATAGAAAATATGATATATTGCTGTTATCAATCATTTCTAGATTATAAACTGACTAAACTTACATCAGGGAAAAATTGGTATTTATGCAAAAAAAAATGTTTTTGTCCTTGTGAGTCCATCTAACATCATAATTAATCATGTGGCTGTGAAATTCACAGTAATATGGTTCCCGATGAACAAGTTTACCCAGCCTGCTTTGCTTTACTGCATGAATGAAACTGATGGTTCAATTTCAGAAGTAATGATTAACAGTTATGTGGTCACATGATGTGCATAGAGATAGCTACAGTGTAATAATTTACACTATTTTGTGCTCCAAACAAAACAAAAATCTGTGTAACTGTAAAACATTGAATGAAACTATTTTACCTGAACTAGATTTTATCTGAAAGTAGGTAGAATTTTTGCTATGCTGTAATTTGTTGTATATTCTGGTATTTGAGGTGAGATGGCTGCTCTTTTATTAATGAGACATGAATTGTGTCTCAACAGAAACTAAATGAACATTTCAGAATAAATTATTGCTGTATGTAAACTGTTACTGAAATTGGTATTTGTTTGAAGGGTCTTGTTTCACATTTGTATTAATAATTGTTTAAAATGCCTCTTTTAAAAGCTTATATAAATTTTTTTCTTCAGCTTCTATGCATTAAGAGTAAAATTCCTCTTACTGTAATAAAAACAATTGAAGAAGACTGTTGCCACTTAACCATTCCATGCGTTGGCACTTATCTATTCCTGAAATTTCTTTTATGTGATTAGCTCATCTTGATTTTTAATATTTTTCCACTTAAACTTTTTTTTCTTACTCCACTGGAGCTCAGTAAAAGTAAATTCATGTAATAGCAATGCAAGCAGCCTAGCACAGACTAAGCATTGAGCATAATAGGCCCACATAATTTCCTCTTTCTTAATATTATAGAATTCTGTACTTGAAATTGATTCTTAGACATTGCAGTCTCTTCGAGGCTTTACAGTGTAAACTGTCTTGCCCCTTCATCTTCTTGTTGCAACTGGGTCTGACATGAACACTTTTTATCACCCTGTATGTTAGGGCAAGATCTCAGCAGTGAAGTATAATCAGCACTTTGCCATGCTCAGAAAATTCAAATCACATGGAACTTTAGAGGTAGATTTAATACGATTAAGATATTCAGAAGTATATTTTAGAATCCCTGCCTGTTAAGGAAACTTTATTTGTGGTAGGTACAGTTCTGGGGTACATGTTAAGTGTCCCCTTATACAGTGGAGGGAAGTCTTCCTTCCTGAAGGAAAATAAACTGACACTTATTAACTAAGATAATTTACTTAATATATCTTCCCTGATTTGTTTTAAAAGATCAGAGGGTGACTGATGATACATGCATACATATTTGTTGAATAAATGAAAATTTATTTTTAGTGATAAGATTCATACACTCTGTATTTGGGGAGGGAAAACCTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGGTGCCTTGAAAATCACATCAAGTAGTTAATTATCTACCCCTTACCTGTGTTTATAACTTCCAGGTAATGAGAATGATTTTTTTTAAAGCTAAAATGCCAGTAAATAAAAGTGCTATGACTTGAGCTAAGATATTTGACTCCAATGCCTGTACTGTGTCTACTGCACCACTTTGTAAACACTTCAATTTACTATCTTTGAAATGATTGACCTTTAAATTTTTGCCAAATGTTATCTGAAATTGTCTATGAATACCATCTACTTCTGTTGTTTTCCCAGGCTTCCATAAACAATGGAGATACATGCA)$ . 05CO039 ENSG00000266965.1(29885),ENSG00000141429.13(27076) ENSG00000141429.13 ./+ +/+ chr18:35627484 chr18:35654560 intergenic 5'UTR deletion/read-through 6 6 0 13 23 medium . . |Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%) . . . ENSG00000141429.13 . ENST00000269195.5 downstream upstream . GCCGCCGCCGCCGCCGCGCGCCTAGCGAG___GAGATGTGGGACATGTGGATTTGGGATATGAATTCATTTGAAAAACCACTTTGG|GGTATGAACGTGATTTCTGATGAAACTGGATTGGAATAATTTTCATGATCTTTGTATATTTATATATATATATTTTTAAATTTTGCATTTGACTTAAAGTGCCATGAGAAAATTTGCATACTGCAAGGTGGTCCTAGCCACCTCCTTGATTTGGGTACTCTTGGATATGTTCCTGCTGCTTTACTTCAGTGAATGCAACAAATGTGATGAAAAAAAGGAGAGAGGACTTCCTGCTGGAGATG___TTCTAGAGCCAGTACAAAAGCCTCATGAAGGTCCTGGAGAAATGGGGAAACCAGTCGTCATTCCTAAAGAGGATCAAGAAAAGATGAAAGAGATGTTTAAAATCAATCAGTT(CAATTTAATGGCAAGTGAGATGATTGCACTCAACAGATCTTTACCAGATGTTAGGTTAGAAGG___GTGTAAAACAAAGGTGTATCCAGATAATCTTCCTACAACAAGTGTGGTGATTGTTTTCCACAATGAGGCTTGGAGCACACTTCTGCGAACTGTCCATAGTGTCATTAATCGCTCACCAAGACACATGATAGAAGAAATTGTTCTAGTAGATGATGCCAGTGAAAGAG___ACTTTTTGAAAAGGCCTTTAGAGAGTTATGTGAAAAAACTAAAAGTACCAGTTCATGTAATTCGAATGGAACAACGTTCTGGATTGATCAGAGCTAGATTAAAAGGAGCTGCTGTGTCTAAAGGCCAAGTGATCACCTTCCTGGATGCCCATTGTGAGTGTACAGTGGGATGGCTGGAGCCTCTCTTGGCCAGGATCAAACATGACAG___GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG___GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG___ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG___GTGTTACAAAGGTAGATTATGGAGATATATCGTCAAGAGTTGGTCTAAGACACAAACTACAATGCAAACCTTTTTCCTGGTACCTAGAGAATATATATCCTGATTCTCAAATTCCACGTCACTATTTCTCATTGGGAGAG___ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG___GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG___AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACTGAGACAATGAAAAAAAATCAACAAAATATGCTTTCTGGAGAACTGTACCTTTTATGGTTTGCTTGCACATCAGTAGTTTCTGCTGAACGTGCTGTCATAATGAAGAGATTTCCAAGATTTTTTTTCCTGATTAGAACTGGTAGCCAGTATATTAAATATTGATATAAAAATAAAAGAACTGGAACCAGATTCAGAATCATGAAAACAACATTTTTACAACAACAAAAAAACTATATTAAACAGGGTTTAAAGGAAATTAAAACAGAACTATGAGAAGTACAATTTGTTATAGTATAGTATCAAATTTCTATATAGATTTTATACCTCAGTGGGGAAAAATAACTGATTCCAATGACATTCATTTTGTTTTCATCTGTGATAGTCATGGATGCTTTTATTTTCCTTGGGGTGCTGAAATTGAGCTGAAAAAAAAAGGCTCTTTGAATATAGTTTTAATTTCTCTCTACAGTTTTTTTTGTTTGGTTTGTGGGCTGTTGGAATTGTAATTTTTAATTGCCTTCTAAAAAATGGAAATTTAACAATGTCTGATCTCAGCTGAACAAATTAGATGTTTCAGTTGCTCTTGGGTCAACTGGCTTACAGATTTACATGTGCACACACACACAAATTTCTTATCACATTTTCGACTTCTTCACTTGACCTAACTGATTATGCGAAATACCCAAGATTCATGCTACTGTACCACAGATTTGTTTTCACAGCAATAAATCTTCAGTTCTTTGTTTATGATTCCACTTAACAAAAGGCCTGCAGAAGTGATTTATTATTTGGGTATTTGGAGATAATACATTTGATGGTTTTTTGGAAAACCTTTTTCACTCCATACTCAGATATGCTTCATTGTCAAATGCATATTTAGATTAGATTATTGAATTGTAATGTTTATCTGCTGCTTTTTTTAAATAAAATTTGACTGAAAATGTTTAATTGGCATTTTTTAATGACTTAGCCAAAGAAGTGCAGCTATTATTCCATATTAATAGGCTTGCATTTCTTTTCCTAAATCTTATTTAGGCTAAATCAGTTTTATTTTTCTCTGATTTTTTTTAATACCACAGAATCACCTGAGTGTCAATTGAAAGTTGTCAATTAAAAGGTAACCTTTTAATCTCGTAGGAGGAATCTCATTAAGACATTTTTCCTGATATGTAGAGCAGTCTGTTGGCAAAAATGCATATATTTTCTTTCATATTTGTAAAATTATATTTAATGGAATTCTTTTCTTTGATTATCAAGGACTTTCACTGCAGGCAGTGCTATTTCTTGTGCCTAAGAATGTTTCCAAAAGTCGCATCGCTAATGATATTTGCCAAGTTGAGTGTACACAAAGTTTCTCATATCCTGTTCAAGTTAATCAACATCAAGCACATGGGGATGCTTTAGGGTGAGTCTATAGTACAAAATGCATAAACCATGTCCCCAGGAAATTTGAAAGGAAGCAGGTGCTGAATGGAATTTTTTTCCTTTTCCATGAGCTGTGTTAATTCTATCTCCAGTAGGCCTAATGCTTGAATAAGCAAGATGTCTAATCAATAAATTATTTTCATGCTCAGAATTTCAGGTTTTTGTACTCCAGCATAGCTTGGTCTTATTTCTTACTGTATGAAAGCTTAACAGCAATGTGATTTAAGGTTTTGTTTTAAATGGGAGATGTAAGTGATTTAATTCATGGGTACTTTTAGAACCTGATAGATAATCCCATTGCCTTTATTTTTCTAATTAAAGAATTCCTAAATACTTTGAAAATACAAAATATTCCTGAATA)$ . 05CO039 ENSG00000100714.17 ENSG00000108587.15 +/+ +/+ chr14:64439170 chr17:30522350 CDS/splice-site CDS translocation 1 0 1 236 85 medium in-frame . Formate--tetrahydrofolate_ligase(100%),Tetrahydrofolate_dehydrogenase/cyclohydrolase__NAD(P)-binding_domain(100%),Tetrahydrofolate_dehydrogenase/cyclohydrolase__catalytic_domain(100%)| . . ENSG00000100714.17 ENSG00000108587.15 ENST00000545908.6 ENST00000225724.9 downstream upstream . ^(GATTGGCTGGAATTACGGCCGGATTCCGGAGTCCTTTCCAGCTCCCTCTTCGGCCGGGTTTCCCGCCGAATACAAAGGCGCACTGTGAACTGGCTCTTTCTTTCCGCCAATCATTTCCGCCAGCCATTCATCACCGATTTTCTTCATCTTCCCCTCCCTCTTCCGTCCCGCAGTCCCCGACCTGTTAGCTCTCGGTTAGTTAAGGGACTCGGGTCCTTCCGAACTGCGCATGCGCCACCGCGTCTGCAGGGGGAGAAGCGGGCAGGGGCGCAGGCGCAGTAGTGTGATCCCCTGGCCAGTCCCTAAGCACGTGGGTTGGGTTGTCCTGCTTGGCTGCGGAGGGAGTGGAACCTCGATATTGGTGGTGTCCATCGTGGGCAGCGGACTAATAAAGGCCATGGCGCCAGCAGAAATCCTGAACGGGAAGGAGATCTCCGC___GCAAATAAGGGCGAGACTGAAAAATCAAGTCACTCAGTTGAAGGAGCAAGTACCTGGTTTCACACCACGCCTGGCAATATTACAG___GTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAG___ATTGGGATCAAAGCCACTCACATTAAGTTACCAAGAACAACCACAGAATCTGAG___GTGATGAAGTACATTACATCTTTGAATGAAGACTCTACTGTACATGGGTTCTTAGTGCAGCTACCTTTAGATTCAGAGAATTCCATTAACACTGAAGAAGTGATCAATGCTATTGCACCCGAGAAGGATGTGGATGG___ATTGACTAGCATCAATGCTGGGAAACTTGCTAGAGGTGACCTCAATGACTGTTTCATTCCTTGTACGCCTAAGGGATGCTTGGAACTCATCAAAGAGACAG___GGGTGCCGATTGCCGGAAGGCATGCTGTGGTGGTTGGGCGCAGTAAAATAGTTGGGGCCCCGATGCATGACTTGCTTCTGTGGAACAATGCCACAGTGACCACCTGCCACTCCAAGACTGCCCATCTGGATGAGGAG___GTAAATAAAGGTGACATCCTGGTGGTTGCAACTGGTCAGCCTGAAATGGTTAAAGGGGAGTGGATCAAACCTGGGGCAATAGTCATCGACTGTGGAATCAATTATGTCCCAG___ATGATAAAAAACCAAATGGGAGAAAAGTTGTGGGTGATGTGGCATACGACGAGGCCAAAGAGAGGGCGAGCTTCATCACTCCTGTTCCTGGCGGCGTAGGGCCCATGACAGTTGCAATGCTCATGCAG___AGCACAGTAGAGAGTGCCAAGCGTTTCCTGGAGAAATTTAAGCCAGGAAAGTGGATGATTCAGTATAACAACCTTAACCTCAAGACACCTGTTCCAAG___TGACATTGATATATCACGATCTTGTAAACCGAAGCCCATTGGTAAGCTGGCTCGAGAAATTGGTCTGCTGTCTGAAGAGGTAGAATTATATGGTGAAACAAAGGCCAAAGTTCTGCTGTCAGCACTAGAACGCCTGAAGCACCGGCCTGATGGGAAATACGTGGTGGTGACTGG___AATAACTCCAACACCCCTGGGAGAAGGGAAAAGCACAACTACAATCGGGCTAGTGCAAGCCCTTGGTGCCCATCTCTACCAGAATGTCTTTGCGTGTGTGCGACAGCCTTCTCAGGGCCCCACCTTTGGAATAAAAG___GTGGCGCTGCAGGAGGCGGCTACTCCCAGGTCATTCCTATGGAAGAG___TTTAATCTCCACCTCACAGGTGACATCCATGCCATCACTGCAGCTAATAACCTCGTTGCTGCGGCCATTGATGCTCGGATATTTCATGAACTGACCCAGACAGACAAG___GCTCTCTTTAATCGTTTGGTGCCATCAGTAAATGGAGTGAGAAGGTTCTCTGACATCCAAATCCGAAGGTTAAAG___AGACTAGGCATTGA)AAAGACTGACCCTACCACACTGACAGATGAAGAGATAAACAGATTTGCAAGATTGGACATTGATCCAGAAACCATAACTTGGCAAAGAG___TGTTGGATACCAATGATAGATTCCTGAGGAAGATCACGATTGGACAGGCTCCAACGGAGAAGGGTCACACACGGA|TCCTGTTGCTGCTGTATGCGTTCCATTGATGGGACATCTTCAGGGACTCTTGACAGCCACCGCTTTCACACCCTGGTCTGGAATAAGGAAACATCGGAGGGAGAAGTTGACTGTCTTGATAATTAGCCTGACCAGCAGGATGAATGCAAGACTGACAGTGATGGACTCTGTGACATGGTCAGGTTGAG(CTGAAGCCACAGTTTCTCTGTGCTGTGTTTTCTAACACATTTTTCTGTTTTTAATTAAAAAAAAAAAAAAAAGGTTTTCAGTTGCTTTTGTCTCCCTAGGAGGCAGGTAAACCAATCAAAAACAGAGTTTTCTGTGTTTCCATGATAGTGTTGAAGCCTAATGACAAGCCAGGTCTTACAGCTGGGCTCTTCAGAAAACCAGGTTTCTACATCCAAAGACTGCTTTTCTTTTAGCTGCCAGATTGGATTGTGAATAAAAATAATTCTTCCCTCTCCCTCTCCCTCTCCCCACGGTCTCCCTCTTTCCACGGTCTCCCTCTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCAATTGCAGGCGAGCGCCGCCACGCCTGACTGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCACCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGAAAGTGAGGAGCGCCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCTCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGTCTGGCCACCCCGTCTGAGAAGTGAGGAGACCTCCGCCCGGCAGCCGCCCTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTACGCCCGGGCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCGCCTCTGCCCGGCCGCCCCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCACCACCCCATCTGGGAGGTGTGCCCAGCAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAAGGCGGAAAGGTGGGGAAAAGATTGAGAAATTGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTATGACCTTACCCCCAACCTGGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGTGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTGATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAAATAATATAATAATAATTCTTGTCCTCTTATTTTACACTCATAATGAGAAATCACAAGTTCTTTCTTGATGATCTGTGCTATAGATTTCTACTCTGTCTCCTCAACTCTGTTGATATTTGGGGAAAATTCTGTTTTTCATAGATTCTTTGAGATGCTGATGGACCAGCTTCAGCATGTTTGAGGTTGTCTGAAATGGAGATCACTGTAAAACTGTCTTTTTCTTTTAAATTACAAGTACACTGGGGTTAACTGTATTGCTGGAAAAACATCAAGAATGACAGTCTTATATTTAAGGCACCAGTCATTGTTTCCATTTTTTTTTTAATTCTTCCCTTGGATTAATATTTTCTACTGAAAAGAAATGAAATCTCAGTTCCACTATGATAAAAGAAACGAATCACCAGTGTCTGTCAGTGCCCCCACTGCTCCTCCTCATACCAGCATTGACACTGGTAGCTGAGGAAGGGGACTGCTCAATTTCTAATGTGATCTATTCAAGAAGCCACATATAAAAAGGCATTGAGGGCTCACTGTCCAGAGAATTGCTTTTGTAAATGCTCCACAACGTATGGGCAAAAGTTTAAGGACTACTGCCTGATGTACCAGGAATCCTGAGTTCTGTGAAAATCTGTTCATTCCAAATCTGTTAAGCATTTCCAAACATCCAGAGAATGGTTTCACTGTTGAGGGTGCATGTGGCAGAATCTGTCTCTCTCTGCACCTGTCTTCTGTTACCATCCCTGGACAGTGACAGATTTTAAGCCAGCCACCAGAATTCTTTTCGAGTTAACCATTTCTTAGTTTCTGTAAATTCATGACTTGTCTTACTGAACTACAGCCTGGTTTGTAGACTTCCAACATCTACACTGCTGCTCTTCACCATTGGAATTCACTGTGGTATTTATAGTATTGGCTTCAGTCCGAGCCACAGGCAATAAAAGGATATCAGCTGTAGTTCTCAGCTACATCATGGTGTATAGATGCTGTTATTCAGGCGAACTTGCTCATGGGTGGACTAACACCTGGTTTGGTACAGAGACTGAGAAGTTTTTCATTCTGGTGTCAAAGTTTTGTTACATTATGGGTGTGAAGGGCATTTGATATATTTTTCTTAACTATGGGGTTTATTTTTCTAAATGTGGGTTGATTGACTGTTAATTGATTCAGGGTACCCTTAAAAGAAAAGAAGTTTTCCCATTGTGAACCTTAAATGATCAGAGAAGTAAGTTCATTGATTAAATTCTCTGTTGGGAGAACAAAACTTTTCTCCCTTGACACTTTATTATCTTTGATTTTTCAAAGGGCCTTGATTGGTGGTTGTGTCTCGGTTAAAATTTATGGGACTTTGCTATGTAGTTGGCATTTATAAAATCTGAAGTATCATAAATAAAGTTATTTATTTAATTATACTACCAGTCTTTTTTACTGGTCTGATTCTTTTGTGCATTCATTAAAGCTGATTGTGTGAGAGTGAACTGGGACACAAGCTAGTCTAGCTCACTGCAGCCAAGCAAACCCTGTTGATGGCTGATGGGCCTTTCCATTAGGGTTTTGCTTATGTGAAGTAATGGAATTATGTTGGTTATTTTCTTTATGAAAATAAACCAGTTCTTCCAAGGAAGTTAAAAGGCTTGGTATGGATGTTGGTGTCAGATAGGTCTGACTAACCTCTCCGTGCTGCAGCCTATACTAAGGTGACCCAGGGCCACATGTAGACAGCTAGGCCAGTGCTTTTTCCTCTTAGGGTTTCTTTGCAGAAAGAAACCTCCAGCAAGGGAAGAGAGGTGTGTGTCCACAGGAAGGGGCTCCGTGGGGATCCCATGAAGGGATTTGAGCTCTTTCAGCTCCATGTCATTTAACTTTTTTGTTTAACCACCTTGGCTTTCTCTCCTTTTTTGCTGTCCTCCTTACGGACCAGTTACCAGATTCAGAGGCTAACAGTTAGTTACTTGTTAATGCTAGTCACAGCCAGGAGGTCAGAAGGAATTTTCTACTTCTGGATCCAAATGTTACCTCTTAGGGGAAGTTATGCCCCCTCAACTATTGTCTTATTATAATGAATCTTTCCTTTTTGGTCCTTTTAAGTAACCACTCAAAACTTTTCATTTCACTGAAAAAATATGAAAAACCATGACAATAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCTTAGCACTTTGGGAGACCAAGGCAGGCGGATCGTTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATGTAGCAAGACTCTGTCTCTGCAAAAAAAATTAAAAGATACCTGAGAGCTCACTTTAATATCAAGGTATTTGCATCCATTCCCACCCTGTTAGCTCTTAAGGGAGGAGGGAAATCAATTCCAACCATACTTTCCTGTGATGGAAGATGTTTCCTCTTGAAAAAATGCCAATACAGATTTTTAAAACCTATTGTTTTCCAAATGCACTTTGTAAGTTTTTGCTTTTAAAATAGCTTCTTGGAACCAATTTTATTGTATTTGTACTTAATTTTTGTTCTCATCTAAATGTGCATTTTCTGACTGTATAGAAGAAGCTTTGGTATGTAATTTAATAATAAATTAGAAATCTAAATGATTGCATTTGTAATTGTTTATATTGAAACAGTAACCATCAAGGTAGTTTGGGGATAGAGATTATGGTATCTCTGGTGTTGATAAGTGTTTCTCATGATGTCCTGAAACCCAGGATGAAATAATACAGGTGCTGAAAAGCTGTCACATGTCATTCAGAAACCATCATATGAACAGTCCACTAGTATTTTAGCCCTAGAAGTGAAGGGGAATCTCTTAACATGAAACTTCAGGAGGCATAATGGGAATCTACAATTGTAGAATTGGCTGGGTGCAGTGGCTAACACCTGTAATCCCAGCAGTTCGAGAGGCCGAGGCAGGAGGATTGCTTGAGACCAGGGATTTGAGACCAGTCTGGGCAACACAGCAAAGACCTTGTCTCTACAAAAACTAAAATTAGCCATTCATGATGGTGTGCACCTATAGTCCCAGCTACTCGGAAGGCTGAGGTAGGAGGATCATGAGCCCAGGAGGTCAAGGCTGCAGTAAGCAACGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAAAATAAATTAATTTTTTAAAAATCGTGTACTGCTGGGCTTTAGTACATTAGTTGTGCAACCAGCCCCACTGTCTAATTTTAGAGCTTTGCAATTAATCCAGCCAGTGATCAATTCCTCTTCTATAAAATGGTGATAAGGATGGCTACCATAATTGTGCCCTGATTATATTGTCAGGGTTATGTGAGGAAATGCTCATAAGCATCTCAGCAAAGCCAGGGGTACAGGGCTCACCTGACATAA)$ MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTR|iLLLLYAFH* 05CO041 ENSG00000136897.8 ENSG00000136872.20 -/- -/- chr9:101398501 chr9:101430897 CDS/splice-site 5'UTR/splice-site duplication 75 75 0 513 150 high in-frame . |Fructose-bisphosphate_aldolase_class-I(100%) . . ENSG00000136897.8 ENSG00000136872.20 ENST00000374865.5 ENST00000648064.1 upstream downstream duplicates(24),mismatches(1) ^GCTCAGGCCCGTGGATCTCATCGAAGATGGCGGCGCGATCTGTGTCGGGCATTACCAGAAGAGTCTTCATGTGGACAGTCTCAGGGACACCATGTAGAGAATTTTGGTCTCGATTCAG|ACCTGTCACCATGGCCCACCGATTTCCAGCCCTCACCCAGGAGCAGAAGAAGGAGCTCTCAGAAATTGCCCAGAGCATTGTTGCCAATGGAAAGGGGATCCTGGCTGCAGATGAATCTGTAG___GTACCATGGGGAACCGCCTGCAGAGGATCAAGGTGGAAAACACTGAAGAGAACCGCCGGCAGTTCCGAGAAATCCTCTTCTCTGTGGACAGTTCCATCAACCAGAGCATCGGGGGTGTGATCCTTTTCCACGtGACCCTCTACCAGAAGGACAGCCAGGGAAAGCTGTTCAGAAACATCCTCAAGGAAAAGGGGATCGTGGTGGGAATCAAG___TTAGACCAAGGAGGTGCTCCTCTTGCAGGAACAAACAAAG(AAACCACCATTCAAG___GGCTTGATGGCCTCTCAGAGCGCTGTGCTCAGTACAAGAAAGATGGTGTTGACTTTGGGAAGTGGCGTGCTGTGCTGAGGATTGCCGACCAGTGTCCATCCAGCCTCGCTATCCAGGAAAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGCAG___AATGGACTGGTACCTATTGTTGAACCAGAGGTAATTCCTGATGGAGACCATGACCTGGAACACTGCCAGTATGTTACTGAGAAG___GTCCTGGCTGCTGTCTACAAGGCCCTGAATGACCATCATGTTTACCTGGAGGGCACCCTGCTAAAGCCCAACATGGTGACTGCTGGACATGCCTGCACCAAGAAGTATACTCCAGAACAAGTAGCTATGGCCACCGTAACAGCTCTCCACCGTACTGTTCCTGCAGCTGTTCCTG___GCATCTGCTTTTTGTCTGGTGGCATGAGTGAAGAGGATGCCACTCTCAACCTCAATGCTATCAACCTTTGCCCTCTACCAAAGCCCTGGAAACTAAGTTTCTCTTATGGACGGGCCCTGCAGGCCAGTGCACTGGCTGCCTGGGGTGGCAAGGCTGCAAACAAGGAGGCAACCCAGGAGGCTTTTATGAAGCGGGCCATG___GCTAACTGCCAGGCGGCCAAAGGACAGTATGTTCACACGGGTTCTTCTGGGGCTGCTTCCACCCAGTCGCTCTTCACAGCCTGCTATACCTACTAGGGTCCAATGCCCGCCAGCCTAGCTCCAGTGCTTCTAGTAGGAGGGCTGAAAGGGAGCAACTTTTCCTCCAATCCTGGAAATTCGACACAATTAGATTTGAACTGCTGGAAATACAACACATGTTAAATCTTAAGTACAAGGGGGAAAAAATAAATCAGTTATTGAAACATAAAAATGAATACCAAGGACCTGATCAAATTTCACACAGCAGTTTCCTTGCAACACTTTCAGCTCCCCATGCTCCAGAATACCCACCCAAGAAAATAATAGGCTTTAAAACAATATCGGCTCCTCATCCAAAGAACAACTGCTGATTGAAACACCTCATTAGCTGAGTGTAGAGAAGTGCATCTTATGAAACAGTCTTAGC)$ MAARSVSGITRRVFMWTVSGTPCREFWSRFr|pvtMAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIGGVILFHvTLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTACYTY* 05CO041 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 11 0 35 39 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) CACCAGCGTGGACGCCGCCACGACCTTCcAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG(___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO041 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 8 6 1 18 28 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(2) GAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAG(GAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 05CO041 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 11 0 22 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) CCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCC(GCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO041 ENSG00000088205.13 ENSG00000239185.1(5658),ENSG00000227291.1(35459) +/+ ./- chr2:117819792 chr2:117145433 CDS/splice-site intergenic inversion 0 2 1 201 4 high out-of-frame . . . . ENSG00000088205.13 . ENST00000263239.7 . downstream downstream . ^(ACGTGCGGCCGGAAGGGAAGTAACGTCAGCCTGAGAACTGAGTAGCTGTACTGTGTGGCGCCTTATTCTAGGCACTTGTTGGGCAGAATGTCACACCTGCCGATGAAACTCCTGCGTAAGAAGATCGAGAAGCGGAACCTCAAATTGCGGCAGCGGAACCTAAAGTTTCAGG___GGGCCTCAAATCTGACCCTATCGGAAACTCAAAATGGAGATGTATCTGAAGAAACAATGGGAAGTAGAAAGGTTAAAAAATCAAAACAAAAGCCCATGAATGTGGGCTTATCAGAAACTCAAAATGGAGGCATGTCTCAAGAAGCAGTGGGAAATATAAAAGTTACAAAGTCTCCCCAGAAATCCACTGTATTAACCAATGGAGAAGCAGCAATGCAGTCTTCCAATTCAGAATCAAAAAAGAAAAAGAAGAAAAAGAGAAAAATGGTGAATGATGCTGAGC)CTG___ATACGAAAAAAGCAAAAACTGAAAACAAAGGGAAATCTGAAGAAGAAAGTGCCGAGACTACTAAAGAAACAGAAAATAATGTGGAGAAGCCAGATAATGATGAAGATGAGAGTGAGGTGCCCAGTCTGCCCCTGGGACTGACAG|GCTCATGGGCAGAAGAGACTTGCCTTGTCTCAG___...GAGATTTTGGACTTGGACTTTTGGGTTAATGCTGCAATGAATTAAGACTTTGAGGGACTGTTG...___ACCTGCACTTGATGGATCAGCTGGTACCACCCAGATTGATCAACTGGCTCATCTGATCTTGTGGCGCCCACCCAGAAACTGACTCAGCACAAGAGGACAGCTTCAACTTCCCAGATTTCATCTCTGAC MSHLPMKLLRKKIEKRNLKLRQRNLKFQGASNLTLSETQNGDVSEETMGSRKVKKSKQKPMNVGLSETQNGGMSQEAVGNIKVTKSPQKSTVLTNGEAAMQSSNSESKKKKKKKRKMVNDAEPDTKKAKTENKGKSEEESAETTKETENNVEKPDNDEDESEVPSLPLGLT|gswaeetclvs 05CO041 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 7 3 1 16 172 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream low_entropy(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCT)CCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCAT(CATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 05CO041 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 10 1 0 630 16 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAA)GCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACC?GGC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 05CO041 ENSG00000156011.17 ENSG00000115267.8 -/- -/+ chr8:18936034 chr2:162306642 CDS/splice-site intron translocation/5'-5' 0 2 0 12 15 medium out-of-frame . . . . ENSG00000156011.17 ENSG00000115267.8 ENST00000327040.13 . upstream upstream . ^(GGCAGTCCCGGGAGCTCAACAAAGAGCACGCGGCGCTGGCCGCCGGCACTCGCGCCCTGAGGCTGCGGCCCCGGAGCGCCCGGCGGCGGTTTCGGCGCGCGGCCGGGCTGGCGATGGAAGATGGAAGGAAGGAGCGCAGCG___GCAGAGACATTTGTTTGGGTGAACAATGCATCTGCACATTCCCAGAGTGTT)GCCAAGGCCAAATATGAATTTTTATTTGGCAGATCTGAAGGGAAAGCTCCAGATACTA|GTTCTGCCCAGTTGGTTTTTCTGGAAGTAGTAATTACTGTATTAAAGTACGTATGTGTTTCAAGTACCTGAAACTACAGAAGAAcCTGCAAAAGATGATTCTGATGAGTTATTCTCCATGCCCCAGACCTCCTTCTCCAGATTTGGCTGAACTGTGGTTGAAAGAAGTTGCTCTTCCACTTGAG MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDT|ssaqlvflevvitvlkyvcvsst* 05CO041 ENSG00000281398.4 ENSG00000120837.8 +/+ -/- chr5:139278408 chr12:104135532 exon/splice-site 5'UTR/splice-site translocation 1 1 0 74 123 medium . . |Histone-like_transcription_factor_(CBF/NF-Y)_and_archaeal_histone(100%) . . ENSG00000281398.4 ENSG00000120837.8 ENST00000505522.6 ENST00000240055.8 downstream downstream . ^(CTGCGCCCTGCGGAGCTC)CGAACACGTGCGC___AGAGGCTGGCTGTGGCAGATGCAACTGCAG___GATGACTTGAAAGTAGGGCATCCTTCACCCATCTGAAGGGAGGAAATAGTGGCAGGTGACAGTCTGCATGTGCAGTTTTCAG|GTTGAAATCACAAAGATTAGACACCTTTTTAGATAGGTGTTCTTCAGCACCACTGACAACACGGTTCTGACAGTATTTCATGACA___ATGGATGGTGACAGTTCTACAACAGATGCTTCTCAACTAGGAATCTCTGCAGACTATATTGGAGGAAGTCATTATGTTATACAGCCTCATGATG___ATTGCAAAAGATGCC(AAAGAATGTGTTCAAGAATGTGTAAGTGAGTTCATCAGTTTTATAACATCTGAAGCAAGTGAAAGGTGCCATCAAGAGAAACGGAAAACAATCAATGGAGAAGATATTCTCTTTGCTATGTCTACTTTAGGCTTTGACAGTTATGTGGAACCTCTGAAATTATACCTTCAGAAATTCAGAGAG___GCTATGAAAGGAGAAAAGGGAATTGGTGGAGCAGTCACAGCTACAGATGGACTAAGTGAAGAGCTTACAGAGGAGGCATTTA___CTAACCAGTTACCAGCTGGCTTAATAACCACAGACGGTCAACAACAAAATGTTATGGTTTACACAACATCATATCAACAG___ATTTCTGGTGTTCAGCAAATTCAGTTTTCATGATCTGAAGAAATGATGGAATGGGGAGTGTAGAGAAATGAGAGTCTGTATGATTCTGGAACAGAGACATCAGAAGGAAAGACTGGTGAAAAGATGTATCTTTGTATATTAATAGCTGTAATGTAGCTTCCTGATGCTTGACTAATTGAGGTGTTAATTCTGACTTGAGAATCTTTTTCATGAATGATTTTAAAGAAAAATTTGGATTTTAAAGGTATTAAAATATTTTTGTTTTGTACGAGAGTTTGTTGCTCTGTATGACTCCTGTATGCATTGTATATTGCAATTTATTACTGTCAGAGATTTGTAGACAGTTTCTTATTTTCATATTGAATCATGTTACTTTTGTAATTCAAGTAAGCGGCTGGGTTAATTCATGATGTTTGCCCTTTTAATAAAATATAAGGGTAGAGTTCATTTTGAATGCAAGTTGCCTTTATTATAAATTTGAGTTTGTCTTGGTTATACCTTGCATGATAACCTAGCTAGATTTCTAGCATTTGCTGTATTTATTAAAATTATTATTTTTTTGGTAAAACATTAATAGTTTAAGCAGCATCATTTTTTTAAAAAATGTAATTGAATAAGTGTGAATGCAGAAGCAAATATTGTCTGCCCTGTTAAACTTGGTGCCCATTAACAGTGTTTACACTGTTCATCGTGCCTGTTAATGTAGTTTTAGTTACTGGAGCTTTTTTAAGACTAGATTTGGTTTTGAGTTACATTTTTAAGAATGTGGGAATATATTTAAGTTTAATGTAGTCCTAGTGCTCTTGAAATGGTGCCCCTTTCATTTGGTACATGATTTTTTTTCAAATCATATCTTCAAGTACTATAGTATTCTCTTACAGAAGAGGAGTTTTATAGTCTGATGGTAAATGTCTTCATTTTACCTTTTTAATTGAAATGTCAAGTTTCCTGTTACACTATGGAAACCAAGAAACATCAGACATCATTGCGTGTACAGACCTTTTGCATGGGTGAGTGGATGAAATGGAGAACAGAGTGAGTGCTGTGAACGGTGTGAAATAGAAGCCAACTTCTAGTATGCTGTCTTCATCTCTGCAATAAACTAAACGTAAATAATGTAACTTTGTATAATTTAGTAGTATGTACTTGGATTGTTTCTTTTTGAAAAGTGAGGATTTGTATTTTCTCATCTATTCTTTTTGGTGTTAATTAACTTGAGGGATTTCTTTTTTAAGTTTTTAATATCAAAAATTGCTATTGTATAGTTTGCCTAAAAGGAAGTTGGAGTGAATATCATCTTTGAAGGACACTCAAATTTATAAGGTAGAAGCAATTTCCCAGATATAGGCTGAACAGAAACATTTACTTTGCCAGAAGGAGCCTTTAGGAGTATATGTGGGCTAATCAGAGGTTAATAATGTCCTCATCTCCTACTCTCCATTTAAAAAACAAACTTCATTGTAGTAAATTCAAATAGGAAAAAATGGGGGAGTAGTTAAGCAAAATCAACAGTCATCCTACTATGTTGAAAGAACCAATGTTAATATTTTGATAAATATCATTTGTCCTTTTACTTTGCTAAATATGTATATTTTTATAAAAATGGGCTCATATTGTGCATACCATTTTGTAACCTGCTTTTTTCACTTAACAATATATTGGGAACATCTTTTCCAGGTCATGCATAGTCTTCTGCATCATTTTTATTGGTTTATTATTCTGCTGTATGACTCAATCATAATTCATTTAATCTTCTATTGGATATTTTGACTATTTACATCTTTTCACAGTTATAAACAGCACTTCACTGAATCCCATGTACATCCATGACTGTTTTCTTAAATTCTTTGAATTGCTGGGTTACCAAATATGCAAAATTTTAAGGCTTTTGATACTTCGTTATGAGTGTATTTTTGAGATATTTTCCACTTGATCCAAGCAGTGTGTCACTATATAACTGATAAAAGCACTTGGTCTTTGATTATCAGATACTGTCTCTAAAATTATTTTAAAGATTAATATTTGTTCAAGTAGAGAATGAAGATAAAAAAGGAATTTGAGGCCAGGTATGGGGTGTCTCATGCCTATAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAACCCCCCGTCTCTACAAAAAATACAAAATTAGCAGGGTGTGGTGGTGCACACCTGTAGTCCCTTACTCCCTGGTGGCTGAGGCATTATCCCTTGAACCTGGGAGGCAGAGCCTAAAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCAAGACTCTTGTCTCAAACAAACAGGAATTTGAGTAAATTTTAAATTAGTATATACTACAACAAATTTCCAAACTTCATAATTTGCTAGTAGTGCTAACTAAAATTTTACACCAGGTAAAATCAGGTCACCTTTTTTATGTATTGACTTCATTGTTGGACTTCATACTCTGATGGGAAAGAAAATGGACATTCTGAATGTGTCAGGTGCATAATATCCTAATTTATGCTTGTCAGAGCTGGGGTCTCTGTCTTCCTTGGCCCATGTTGCATTTAACTGAATGTCATGTTTTCTCCTCTGGAACTTCTTATGTATGCAAGCTCCCATGTTAACCTATCATAAAAATGTTTTTTATAA)$ . 05CO044 ENSG00000143442.22 ENSG00000212512.2(17021),ENSG00000227109.1(8795) -/- ./- chr1:151440928 chr1:202087964 CDS/splice-site intergenic duplication 25 37 1 215 88 high out-of-frame . . . . ENSG00000143442.22 . ENST00000271715.7 . upstream downstream duplicates(1),low_entropy(1),mismatches(2) ^(GTATCCCTCCGCGGGGCGAGAGGGTCGGTGGGGGGAGTCGGCGTCTCTCTCCCCCGCGCCAGCTCCCGTACACGGAGCCGCATTCCTTGGCCCCCCCACCCCCCTCCCTCGGGGCCCCCCCGCCCCCCTCGGGAAAAAAATCCACCCCGAATCACTCGAACCCGAGGGAGGCTTCCTTTCACCCTTGGGGAGACGAGCTTTCAACGGTTACCTCTTCTTCGTCTCCCCCCAAGCCCCCGTCCCCTCCCCCTGCTCCCACCCCCTTCTGGCGCCGGGTGTAAGGTCCCTTTAAGGCGACGGCGCCTTCCTCGGGTCAGACTACCGGCGGCGACGACCACAGGAG___CATGGCGGACACCGACCTGTTCATGGAATGTGAGGAGGAGGA)GTTGGAGCCATGGCAGAtAATCAGTGATGTCATTGAGGACTCTGTAGTTGAAGATTATAATTCAGTGGATAAAACTACCACAG___TTTCTGTGAGCCAGCAGCCAGTCTCGGCTCCAGTGCCCATCGCTGCCCATGCTTCTGTTGCTGGGCACCTCTCTACATCCACCACCGTTAGTAGCAGCGGGGCACAGAACAGCGACAGTACAAAGAAGACTCTTGTCACACTAATTGCCAACAACAATG|ATCTGTTTCAGGCTATCGCCTCCTCCCTTTGACAAGACAGGAGTGATCTGAGCTCCCCTCTTGCCATCTGCAGGAATGAGATGCCTGAGTAGCCCAGGAGGATGCTGCCAAGGGGCACAGCAGAGTTCGCCTTGAAGCCACAGACTGGACCTTGAATTCCAACCCATCTGCCTGATCAGTCATCGATGCTCCCCATGCCTCAGTTTATCAATAAAATGATGTGTTGTGATGACT MADTDLFMECEEEELEPWQiISDVIEDSVVEDYNSVDKTTTVSVSQQPVSAPVPIAAHASVAGHLSTSTTVSSSGAQNSDSTKKTLVTLIANNN|dlfqaiassl* 05CO044 ENSG00000143442.22 ENSG00000227109.1(22972),ENSG00000170075.9(2967) -/- ./- chr1:151423397 chr1:202119950 CDS/splice-site intergenic duplication 27 6 0 56 22 high out-of-frame . . . . ENSG00000143442.22 . ENST00000271715.7 . upstream downstream duplicates(2),mismatches(3) ^(GTATCCCTCCGCGGGGCGAGAGGGTCGGTGGGGGGAGTCGGCGTCTCTCTCCCCCGCGCCAGCTCCCGTACACGGAGCCGCATTCCTTGGCCCCCCCACCCCCCTCCCTCGGGGCCCCCCCGCCCCCCTCGGGAAAAAAATCCACCCCGAATCACTCGAACCCGAGGGAGGCTTCCTTTCACCCTTGGGGAGACGAGCTTTCAACGGTTACCTCTTCTTCGTCTCCCCCCAAGCCCCCGTCCCCTCCCCCTGCTCCCACCCCCTTCTGGCGCCGGGTGTAAGGTCCCTTTAAGGCGACGGCGCCTTCCTCGGGTCAGACTACCGGCGGCGACGACCACAGGAG___CATGGCGGACACCGACCTGTTCATGGAATGTGAGGAGGAGGAGTTGGAGCCATGGCAGAAAATCAGTGATGTCATTGAGGACTCTGTAGTTGAAGATTATAATTCAGTGGATAAAACTACCACAG___TTTCTGTGAGCCAGCAGCCAGTCTCGGCTCCAGTGCCCATCGCTGCCCATGCTTCTGTTGCTGGGCACCTCTCTACATCCACCACCGTTAGTAGCAGCGGGGCACAGAACAGCGACAGTACAAAGAAGACTCTTGTCACACTAATTGCCAACAACAATG___CTGGCAATCCTTTGGTCCAGCAAGGTGGACAGCCACTCATCCTGACCCAGAATCCAGCCCCAGGTCTGGGCACAATGGTTACTCAACCAGTATTGAGGCCTGTTCAGGTCATGCAGAATGCCAATCATGTGACTAGTTCCCCTGTGGCCTCACAACCAATATTTATCACTACGCAG___GGATTTCCTGTAAGGAATGTCCGGCCTGTACAAAATGCAATGAATCAGGTTGGGATTGTGCTGAACGTACAGCAAGGCCAAACGGTTAGACCAATTACACTAGTTCCAG___CCCCAGGTACCCAGTTTGTTAAGCCGACAGTTGGAGTTCCACAAGTGTTCTCCCAGATGACCCCTGTGAGGCCAGGCTCCACAATGCCTGTGAGGCCCACCACCAACACCTTCACCACCGTCATCCCGGCCACTCTTACCATTCGAAGCACCGTCCCACAGTCCCAGTCCCAGCAGACCAAGTCCACTCCCAGCACTTCTACCACTCCCACTGCCACACAGCCAACCTCACTGGGGCAACTAGCTGTTCAGTCTCCAGGCCAGTCAAACCAGACCACGAATCCCAAGCTAG___CTCCCTCCTTCCCCTCTCCACCTGCAGTGAGCATTGCCAGCTTTGTCACTGTGAAGCGACCTGGTGTTACAGGCGAAAATAGCAATGAAGTGGCCAAATTGGTGAATACCCTTAACACCATCCCTTCCCTGGGCCAGAGTCCTGGGCCAGTGGTGGTGTCCAACAACAGCTCTGCTCATGGCTCTCAAAGAACCAGCGGACCTGAGTCTTCAATGAAAG___TGACCTCTTCCATCCCAGTATTTGACCTCCAGGATGGTGGACGGAAAATATGTCCACGATGTAATGCTCAATTTCGTGTTACTGAAGCTTTGAGAGGTCACATGTGT___TACTGTTGCCCAGAAATGGTTGAATACCAGAAGAAAGGAAAGTCCCTGGATTCAGAACCCAGTGTCCCATCAGCAGCAAAGCCCCCATCCCCTGAGAAAACAGCTCCTGTTGCTTCCACACCCTCTTCTACACCTATTCCTGCTCTGTCACCGCCTACCAAAGTACCAGAACCAAATGAGAACGTGGGCGATGCCGTCCAGACCAAACTCATTATGCTTGTAGATGACTTCTACTATGGACGGGATGGT)GGCAAAGTAGCCCAGCTCACAAATTTCCCTAAGGTCGCCACATCTTTCCGATGCCCACATTGTACCAAAAGGCTAAAAAACAATATTCG___ATTCATGAACCATATGAAACACCACGTAGAACTCGATCAGCAGAACGGTGAGGTAGATGGTCACACTATCTGCCAGCACTGTTACCGCCAGTTTTCCACTCCCTTCCAGCTTCAGTGCCACTTGGAAAATGTTCATAGTCCCTATGAATCTACTA|GAGTGGAAACGGAAGTCCAGAGAAGCCAAcTGACCAGGCCAGGCACTTGGCAGTCCTGTCTCTGCTGTGGGATCCTCAGTGCTCCACAGGCACGTGCCAATACAGTATGGACCCAAGCCCAGGGCTG___GAATGAGATGCCTGAGTAGCCCAGGAGGATGCTGCCAAGGGGCAC MADTDLFMECEEEELEPWQKISDVIEDSVVEDYNSVDKTTTVSVSQQPVSAPVPIAAHASVAGHLSTSTTVSSSGAQNSDSTKKTLVTLIANNNAGNPLVQQGGQPLILTQNPAPGLGTMVTQPVLRPVQVMQNANHVTSSPVASQPIFITTQGFPVRNVRPVQNAMNQVGIVLNVQQGQTVRPITLVPAPGTQFVKPTVGVPQVFSQMTPVRPGSTMPVRPTTNTFTTVIPATLTIRSTVPQSQSQQTKSTPSTSTTPTATQPTSLGQLAVQSPGQSNQTTNPKLAPSFPSPPAVSIASFVTVKRPGVTGENSNEVAKLVNTLNTIPSLGQSPGPVVVSNNSSAHGSQRTSGPESSMKVTSSIPVFDLQDGGRKICPRCNAQFRVTEALRGHMCYCCPEMVEYQKKGKSLDSEPSVPSAAKPPSPEKTAPVASTPSSTPIPALSPPTKVPEPNENVGDAVQTKLIMLVDDFYYGRDGGKVAQLTNFPKVATSFRCPHCTKRLKNNIRFMNHMKHHVELDQQNGEVDGHTICQHCYRQFSTPFQLQCHLENVHSPYEST|rvetevqrsqltrpgtwqsclccgilsapqarantvwtqaqgwnempe* 05CO044 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 10 14 0 34 31 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CCGGCGTGGGACAGCCACCTGGAGCGCtGCTGCCAG___...CAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO044 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 7 0 27 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(2),mismappers(1),mismatches(2) CGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGG(GCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO044 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 10 9 1 33 47 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(3),mismatches(2) CCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCC(AGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 05CO044 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 7 12 0 27 43 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) TGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC???GGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCT(TGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO044 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 14 0 31 31 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),inconsistently_clipped(1) AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGG(CCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO044 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 3 11 0 18 29 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream inconsistently_clipped(1) CGACGGCGGCTGCAGGGCGCTCCGGCAGCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAG(TGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05CO044 ENSG00000279334.1(5025),ENSG00000280097.1(25873) ENSG00000196498.13 ./- -/- chr12:124567308 chr12:124495368 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 27 38 high . . |G-protein_pathway_suppressor_2-interacting_domain(100%),Myb-like_DNA-binding_domain(100%) . . . ENSG00000196498.13 . ENST00000404621.5 upstream downstream duplicates(2) CGCCCTAGGAGGCGGCGGCGGGAGGATCGCGTCCCGACCCGAGGCCGGGCCTGCTGCGCGCCCCCAGCCCGATCGGCACCGCCACTTGCCTGAGCGCCCCGGCGGCCCGAGCGCGCCCCAAGCCCGGGCGCCACCGCTGCCACCTCCGCGAG|GTGCCAGTGACGGGGTGGCCCGTGAGCTGATGACGAGGACTGGCTTTTAATCCTTGGTGGTGATTAAGAGAAAGCTTATTGcGGCCTGGGAGCAGCTCCCCGCCGACCCCCACCACCATGTCGGGATCCACACAGCCTGTGGCACAGACGTGGAGGGCCACTGAGCCCCGCTACCCGCCCCACAGCCTTTCCTACCCAGTGCAGATCGCCCGGACGCACACG___GACGTCGGGCTCCTGGAGTACCAGCACCACTCCCGCGACTATGCCTCCCACCTGTCGCCCGGCTCCATCATCCAGCCCCAGCGGCGGAGGCCCTCCCTGC(TGTCTGAGTTCCAGCCCGGGAATGAACG___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)$ . 05CO044 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 4 0 141 26 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAG)AGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO044 ENSG00000142687.18 ENSG00000173406.15 -/- -/- chr1:35506612 chr1:56998128 CDS/splice-site 3'UTR/splice-site duplication 4 6 0 37 14 high out-of-frame . . . . ENSG00000142687.18 ENSG00000173406.15 ENST00000325722.8 ENST00000371236.6 upstream downstream . ^(GTTTCCGGCCGCCGTCGCTGTCCAGGGAGGCTGAGGCGAGAGGTAGCTGTCCGGGTGGGGAGCCCGCACTACCTTCTTCCTCTTCCTCCTCCTCCTCCGGGTGAGGGGAGCGAAGGTTGGGGGTCCCCGAGCCCATGGACCAGGAGGAGGCGGAGGCCGCCGAGAGCCGGGGCCCCGCTATGTGGCCCTGAGCCCCG___TGTACTGGTTCTGCCTGTCTGGAGGGCCATGGAGAAGAGGCTGGGAGTCAAGCCAAATCCTGCTTCCTGGATTTTATCAGGATATTATTGGCAGACATCTGCGAAGTGGTTGAGAAGCCTGTACCTGTTTTATACTTGCTTTTGCTTCAGCGTTCTGTGGTTGTCAACAG___ATGCCAGTGAGAGCAGGTGCCAGCAGGGGAAGACACAATTTGGAGTTGGCCTGAGATCTGGGGGAGAAAATCACCTCTGGCTTCTTGAAGGAACCCCCTCTCTCCAGTCATGTTGGGCTGCCTGCTGCCAGGACTCTGCCTGCCATGTCTTTTGGTGGCTAGAAGGGATGTGCATTCAGGCAGACTGCAGCAGGCCCCAGAGCTGCCGGGCTTTTAGGACACACTCCTCCAATTCCATGCTGGTGTTTTTAAAAAAATTCCAAACTGCAGATGATTTGGGCTTTCTACCTGAAGATGATGTACCACATCTTCTGGGGCTAGGTTGGAACTGGGC)ATCTTGGAGGCAGAGCCCACCCAGAGCTGCACTCAGACCTGCTGTATCTTCCAGTGACCAGCAGAGCTTAATCAGGAAGCTTCAGAAGAGAGGTAGTCCCAGTGACGTAGTTACACCTATAGTGACACAGCATTCTAAAGTGAATGACTCCAACGAATTAGGTGGTCTGACTACCAGTGGCTCTGCAGAG|GAGCCAGAGCCTCTGTACGCGCAGATCAACAGACCTAAGAAATAGCATCGATGCGAGCTCGTGGTGGGTGCTCAAGACTGGCATGGACATCAGCATCACGACAGGCTCTCTTGTATTCTTTCAaCTCTTCCC(ACAAGAAATTCATGATTGCCCAATGGAACTCGCTCAGAAGAGGGAACTAAGCATTTTTGGCAACCAATGGCAGATATCTATGGCAGCACACAAAAAAAGTATAGAAAGATCCACCCAACATTAAATCAGAAATCAAGCAAATGCTTACCCAACAAATATTTGAGCCCTCATAGCTGGGTTTAAGATGACTCAGTGTGCAAAATTATTAATTCCCTTTTTATTTCTCTACCTGTTGACCACTGTTGAGACACCAAATTTGGAGTGACAGGCATCAGAGGATTACAACAGGGTTGGAACTGACTTCTTTAAGCAAAAGCAAAGGGTCTTCTGTGACCACAATATCGTCATCCATATGCCTTTTCACATAGGATGATGTGTTTTTTGTCACTCCATGGGGCCTGGTCTGCCATTTTCCCCCCTTTCCTTTTTTTGTCATGTTTGAAAATTAATAGGTGTACAAATTTTTGTATTGCTTTTGACTTTTTTTAGATATGGGTGAAGAAATCTAACTGGGGAGAAAAAAAGCCTCAGTGAAATGAATTAACTTGAAATTACAAGACAAATAAGTGGTTGATTATTCATTATGATCACGAATGTTGCCAAAACAGTCCTTTAGCTATTCTGCATCCTGGTGAAGAAAGACAGCTTTCAGTACGAACCTTCATTCTGTGAGTAGGAAAAGACATCAGATCCCATTGATGAGAAAGATGAAAAATGCATCTGATTTCTTAAGAAGCTCTAAACTCTAAGTACAATAAAATGATATTTTTTATTTTTCCGATATCTTGCTGCTGTGTTGCTATGCAGACAAGTGTCTTCTCCACGTGCCATTTTCAAAGAAAAGTCATTTGCCAAATAATTCTGGTACAATTCTGGTAATGTGGTTTTGGATCTTAAAAACCAACTTTCTAATGGAACAATGGTGGCATAAATATTCAGAATAACAAACTGATTCTGTGGTCCAAATGGTTCATCTCTATCTCTTTTTGTACATCAGAAAATTCAAATGGGATTTTTATTTTATAACTTGAAAAAAAAACCTTACCATTAAACTCTTTAAATATTTAAGGGAAATGGCTTTAAGGAGTTCTAATGAAAAAAAATTGTCTTTTTTTTGTAAATATAAATGTTAATGAAAATGATTTTTAATAATGCCATTACACTGTAGAGAAGGTAGCAGATTGAGTGCAAGGTGTGACAAACTTGATGGATGGGGCTCACTTTCCAGACGTTATTCTGGAGCATATGGTAGGAAGCTGGAGTGCAGGGACAGCTGGCAGGAGCAGTTGGCCAATCAGCAGCTAGTGAACGGGAAGGGAGCACGTGACTCCATCATCTAGCCTTTCCACGAGAGTCCCCACCCTACGTGCAACACAAGAAAAAGACAATTCACATTCTGAAGAATTCAGATTCTGAAACTCTCCCACCTCCCCACTCCCACCTACCCCCGATATAAATCACTGGACTGTTTGTACGTGAAACAGAAGAGGCTAAGCTTCCTTTTTTTACACTTATGAGACAAAAAGTGCAGTGTTTGGTTCGTATGTTTAGCACATGATTTTCATAAAGAATCTATATATTTTTGCCCTACAGAGAATTGTTATACAGGTCAAGTGTGTTTTCCTGATGTTCCTATGCAGTTACAGTATGTTGAAAGTGTTTTAACACTAAGAAGAAAACTTTAAAGATTCATGTGATTAATTGGATTTGAGGATAATTATTATTATTTGGTTTTTAGATTTGAAAAGTAGAATTTCCATTGAGACAATTGATTTGAATAGGCCTGCATTTGATTCTTCATATCAATAGAAACTAAAATGATTTGGGAGATTCATTTGAAAAATGATTGTATACTTGTTCACAAAGCGAAAAGTGATACATGAAGGTAATGGTTATCATTTAAAGCCCACATTTTACACTATCAGGTCACAGGAGTCTAATTTTTTTTTCAGTTAGATAAACTGACCAAACGTCTATTCAAGAATATATGTCAATATCATCCTAATGTGGAAGGTCCGAAGAACCAGAAAAGTGAGAAGGGCCGTTTACCTCCCTCTGTAGCTATCACCTGTTGGTCCACAGAGTTTCTTGAGAAATGAGCAAACATTTTATGATTAGGTAACCCTTTCACATGAACGGGAAGATGGGAAAGGTGGAATGACCATAAGAGTTGGCCTGAGACCAGTTTGTTTTCTGGGGATTTGGTAAGATAGGCAGTTCCCATGGGAAATTGCTTAAATTGCTTTGTTGCCTATGATTTGATTCTAAACAAGTGGTGCTATCTTCTCCCTCAATATGGCTGTCTTGAGTTTGTCTTGCAGTATCACACCATTATACCAATTCTTTGGGTTGCTTCTGACACATTCAAAGTGAACTCTGGCTGATGTTGCTGTTTCAGGTATACCATCTGGAGTTAATTTCCTAGCAGAAGGTGAAAGTCCAGGAGAATTGTCCTCTTTCATTGAACATGATTGAAAATGTAACTGGCTCTGAACTTCAAGAAGATAGATGCCCAAGTGATGCATTAAAGTAAGGGAAATAAAGTCAAGTTTTTCAACTGCCATCCATATTCTCATTGGCAGAATTCTGATTTTTTTCCAAGCACTGTTTGGTGAGCCTGGAAGCACCGTATCCTGTCCCAGGAGTACAGTGAAATTTCCAAGCAAGAGCTGAGGTGCCAATACCAAAAGACCATGGGGAGTCTGCACGGTTCTGGTTAGATCAATAGAAAATCCATGTGTACAACTGTTAATTCCTCATCCTCCACTAGCACTAAATTTGTCACTTTAAATTTTGAAACCAGGGAAACACCACCTGTCATTCTGTCCCCATTCTCCATAGCTCTTCAATCTTTACATGCCGCAAGACTTTTTTGATAGCTCGTACTCATCCCAGTGTCTCCTGAAACCCCATCATGTAATGTACTGGGCACCTTCTTTTAAACAAATGTTTACTCTGTGGGTTTGGTTCATTTCAATTTCTGCGTTCTGACACATATTTTTTTAATAAAGATGAGAAAGAGAAAATGACTGTTGCAGTACCTTTCTAGACCTACTTTAACTTTACCTCAGATGACAGTTTGTTAACATATATGGACACATTATTTTTAACTTTATGTACAATGCATTCAACAGAACAGCAAAATTTTTAGAAATTTTCCATTAATTTCTGTAACACACCATGTAAAACTGTTACAAATAAACATGTTTGAGAACAACA)$ MEKRLGVKPNPASWILSGYYWQTSAKWLRSLYLFYTCFCFSVLWLSTDASESRCQQGKTQFGVGLRSGGENHLWLLEGTPSLQSCWAACCQDSACHVFWWLEGMCIQADCSRPQSCRAFRTHSSNSMLVFLKKFQTADDLGFLPEDDVPHLLGLGWNWASWRQSPPRAALRPAVSSSDQQSLIRKLQKRGSPSDVVTPIVTQHSKVNDSNELGGLTTSGSAE|epeplyaqinrpkk* 05CO044 ENSG00000142687.18 ENSG00000173406.15 -/- -/- chr1:35554350 chr1:56998128 CDS/splice-site 3'UTR/splice-site duplication 1 1 0 36 14 high out-of-frame . . . . ENSG00000142687.18 ENSG00000173406.15 ENST00000325722.8 ENST00000371236.6 upstream downstream . ^(GTTTCCGGCCGCCGTCGCTGTCCAGGGAGGCTGAGGCGAGAGGTAGCTGTCCGGGTGGGGAGCCCGCACTACCTTCTTCCTCTTCCTCCTCCTCCTCCGGGTGAGGGGAGCGAAGGTTGGGGGTCCCCGAGCCCATGGACCAGGAGGAGGCGGAGGCCGCCGAGAGCCGGGGCCCCGCTATGTGGCCCTGAGCCCCG___TGTACTGGTTCTGCCTGTCTGGAGGGCCATGGAGAAGAGGCTGGGAGTCAAGCCAAAT)CCTGCTTCCTGGATTTTATCAGGATATTATTGGCAGACATCTGCGAAGTGGTTGAGAAGCCTGTACCTGTTTTATACTTGCTTTTGCTTCAGCGTTCTGTGGTTGTCAACAG|GAGCCAGAGCCTCTGTACGCGCAGATCAACAGACCTAAGAAATAGCATCGATGCGAGCTCGTGGTGGGTGCTCAAGACTGGCATGGACATCAGCATCACGACAGG(CTCTCTTGTATTCTTTCACCTCTTCCCACAAGAAATTCATGATTGCCCAATGGAACTCGCTCAGAAGAGGGAACTAAGCATTTTTGGCAACCAATGGCAGATATCTATGGCAGCACACAAAAAAAGTATAGAAAGATCCACCCAACATTAAATCAGAAATCAAGCAAATGCTTACCCAACAAATATTTGAGCCCTCATAGCTGGGTTTAAGATGACTCAGTGTGCAAAATTATTAATTCCCTTTTTATTTCTCTACCTGTTGACCACTGTTGAGACACCAAATTTGGAGTGACAGGCATCAGAGGATTACAACAGGGTTGGAACTGACTTCTTTAAGCAAAAGCAAAGGGTCTTCTGTGACCACAATATCGTCATCCATATGCCTTTTCACATAGGATGATGTGTTTTTTGTCACTCCATGGGGCCTGGTCTGCCATTTTCCCCCCTTTCCTTTTTTTGTCATGTTTGAAAATTAATAGGTGTACAAATTTTTGTATTGCTTTTGACTTTTTTTAGATATGGGTGAAGAAATCTAACTGGGGAGAAAAAAAGCCTCAGTGAAATGAATTAACTTGAAATTACAAGACAAATAAGTGGTTGATTATTCATTATGATCACGAATGTTGCCAAAACAGTCCTTTAGCTATTCTGCATCCTGGTGAAGAAAGACAGCTTTCAGTACGAACCTTCATTCTGTGAGTAGGAAAAGACATCAGATCCCATTGATGAGAAAGATGAAAAATGCATCTGATTTCTTAAGAAGCTCTAAACTCTAAGTACAATAAAATGATATTTTTTATTTTTCCGATATCTTGCTGCTGTGTTGCTATGCAGACAAGTGTCTTCTCCACGTGCCATTTTCAAAGAAAAGTCATTTGCCAAATAATTCTGGTACAATTCTGGTAATGTGGTTTTGGATCTTAAAAACCAACTTTCTAATGGAACAATGGTGGCATAAATATTCAGAATAACAAACTGATTCTGTGGTCCAAATGGTTCATCTCTATCTCTTTTTGTACATCAGAAAATTCAAATGGGATTTTTATTTTATAACTTGAAAAAAAAACCTTACCATTAAACTCTTTAAATATTTAAGGGAAATGGCTTTAAGGAGTTCTAATGAAAAAAAATTGTCTTTTTTTTGTAAATATAAATGTTAATGAAAATGATTTTTAATAATGCCATTACACTGTAGAGAAGGTAGCAGATTGAGTGCAAGGTGTGACAAACTTGATGGATGGGGCTCACTTTCCAGACGTTATTCTGGAGCATATGGTAGGAAGCTGGAGTGCAGGGACAGCTGGCAGGAGCAGTTGGCCAATCAGCAGCTAGTGAACGGGAAGGGAGCACGTGACTCCATCATCTAGCCTTTCCACGAGAGTCCCCACCCTACGTGCAACACAAGAAAAAGACAATTCACATTCTGAAGAATTCAGATTCTGAAACTCTCCCACCTCCCCACTCCCACCTACCCCCGATATAAATCACTGGACTGTTTGTACGTGAAACAGAAGAGGCTAAGCTTCCTTTTTTTACACTTATGAGACAAAAAGTGCAGTGTTTGGTTCGTATGTTTAGCACATGATTTTCATAAAGAATCTATATATTTTTGCCCTACAGAGAATTGTTATACAGGTCAAGTGTGTTTTCCTGATGTTCCTATGCAGTTACAGTATGTTGAAAGTGTTTTAACACTAAGAAGAAAACTTTAAAGATTCATGTGATTAATTGGATTTGAGGATAATTATTATTATTTGGTTTTTAGATTTGAAAAGTAGAATTTCCATTGAGACAATTGATTTGAATAGGCCTGCATTTGATTCTTCATATCAATAGAAACTAAAATGATTTGGGAGATTCATTTGAAAAATGATTGTATACTTGTTCACAAAGCGAAAAGTGATACATGAAGGTAATGGTTATCATTTAAAGCCCACATTTTACACTATCAGGTCACAGGAGTCTAATTTTTTTTTCAGTTAGATAAACTGACCAAACGTCTATTCAAGAATATATGTCAATATCATCCTAATGTGGAAGGTCCGAAGAACCAGAAAAGTGAGAAGGGCCGTTTACCTCCCTCTGTAGCTATCACCTGTTGGTCCACAGAGTTTCTTGAGAAATGAGCAAACATTTTATGATTAGGTAACCCTTTCACATGAACGGGAAGATGGGAAAGGTGGAATGACCATAAGAGTTGGCCTGAGACCAGTTTGTTTTCTGGGGATTTGGTAAGATAGGCAGTTCCCATGGGAAATTGCTTAAATTGCTTTGTTGCCTATGATTTGATTCTAAACAAGTGGTGCTATCTTCTCCCTCAATATGGCTGTCTTGAGTTTGTCTTGCAGTATCACACCATTATACCAATTCTTTGGGTTGCTTCTGACACATTCAAAGTGAACTCTGGCTGATGTTGCTGTTTCAGGTATACCATCTGGAGTTAATTTCCTAGCAGAAGGTGAAAGTCCAGGAGAATTGTCCTCTTTCATTGAACATGATTGAAAATGTAACTGGCTCTGAACTTCAAGAAGATAGATGCCCAAGTGATGCATTAAAGTAAGGGAAATAAAGTCAAGTTTTTCAACTGCCATCCATATTCTCATTGGCAGAATTCTGATTTTTTTCCAAGCACTGTTTGGTGAGCCTGGAAGCACCGTATCCTGTCCCAGGAGTACAGTGAAATTTCCAAGCAAGAGCTGAGGTGCCAATACCAAAAGACCATGGGGAGTCTGCACGGTTCTGGTTAGATCAATAGAAAATCCATGTGTACAACTGTTAATTCCTCATCCTCCACTAGCACTAAATTTGTCACTTTAAATTTTGAAACCAGGGAAACACCACCTGTCATTCTGTCCCCATTCTCCATAGCTCTTCAATCTTTACATGCCGCAAGACTTTTTTGATAGCTCGTACTCATCCCAGTGTCTCCTGAAACCCCATCATGTAATGTACTGGGCACCTTCTTTTAAACAAATGTTTACTCTGTGGGTTTGGTTCATTTCAATTTCTGCGTTCTGACACATATTTTTTTAATAAAGATGAGAAAGAGAAAATGACTGTTGCAGTACCTTTCTAGACCTACTTTAACTTTACCTCAGATGACAGTTTGTTAACATATATGGACACATTATTTTTAACTTTATGTACAATGCATTCAACAGAACAGCAAAATTTTTAGAAATTTTCCATTAATTTCTGTAACACACCATGTAAAACTGTTACAAATAAACATGTTTGAGAACAACA)$ MEKRLGVKPNPASWILSGYYWQTSAKWLRSLYLFYTCFCFSVLWLST|garasvradqqt* 05CO044 ENSG00000163875.15 ENSG00000225475.1(13005),ENSG00000162409.11(12760) -/- ./+ chr1:37495885 chr1:56632554 CDS/splice-site intergenic inversion 1 3 1 181 7 high out-of-frame . . . . ENSG00000163875.15 . ENST00000296214.9 . upstream upstream . ^(GCGCCGCCGCCGCCCGCCTCAGCCCAACATGGCGATGCACAACAAGGCGGCGCCGCCGCAGATCCCGGACACCCGGCGGGAGCTGGCGGAGCTCGTGAAGCGGAAGCAGGAGCTGGCG___GAAACATTGGCAAATTTGGAGCGACAGATCTATGCTTTTGAGGGAAGCTACCTGGAAGACACTCAGATGTATGGCAATATTATTCGTGGCTGGGATCGGTATCTGACCAACCAAAA___AAACTCCAATAGCAAAAATGATCGAAGGAACCGGAAGTTTAAGGAAGCTGAGCGGCTCTTCAGTAAATCCTCGGTTACCTCAGCAGCT___GCAGTAAGTGCATTGGCAGGAGTTCAGGACCAGCTCATTGAAAAGA___GGGAGCCAGGAAGTGGGACGGAAAGTGACACTTCTCCAGACTTCCACAATCAGGAAAATGAGCCCAGCCAGG)AGGACCCTGAGGATCTGGATGGATCTGTGCAGGGAGTGAAACCTCAGAAGGCTGCTTCTTCTACTTCCTCAGGGAGTCACCACAGCAGCCATAAAAAGCGAAAGAATAAAAACCGGCACAG___GATTGATCTGAAGTTAAACAAAAAACCACGAGCT|GAGAAGCTTTCTGGGGCACTAGGATGATGATACAAAGAGGAAAACCAAACTGGGGGGAAAAAAAAGCTGCCATCAATTTGGGGGAAAGTGGAAGATGTTCCCTGAGAAGGTGAGAATTACCCAAGTGGCAAAAGAAAGAAGAAAGGtACACTAGACTCGGGC MAMHNKAAPPQIPDTRRELAELVKRKQELAETLANLERQIYAFEGSYLEDTQMYGNIIRGWDRYLTNQKNSNSKNDRRNRKFKEAERLFSKSSVTSAAAVSALAGVQDQLIEKREPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKNKNRHRIDLKLNKKPRA|eklsgalg* 05CO044 ENSG00000146872.17 ENSG00000087995.16 +/+ +/+ chr17:62481206 chr17:62447701 CDS/splice-site CDS/splice-site duplication 3 1 1 72 159 high out-of-frame . |Methyltransferase_domain(100%) . . ENSG00000146872.17 ENSG00000087995.16 ENST00000346027.9 ENST00000311506.10 downstream upstream . ^(GCGGCCGCCCGGGCCCGGGCCCGCGTCGGGCGCCTGGCTCTGTACGCGAGCCCGGGGATCTGCGGCCTTCGTGCCCCCCCTCCCCCGCCCGCCCTCTCGTGGAGCCCGGCGCCGGCGGCGGCTGCCCGGGCGGGGGGTTGCGGCGCT)CAGGAGAGGCCCCGGCTCCGCCCCGGGCCTGCCCAGGGGGAGAGCGGAGCGGTCCGCAGCCGGGTCGGGTCGGGGCCCCTCCCGGGAGGAGCGTGGAGCGGCGGCGGCGGCGGCGGCAG___CAGAAATGATGGAAGAATTGCATAGCCTGGACCCACGACGGCAGGAATTATTGGAGGCCAGGTTTACTGGAGTAGGTGTTAGTAAG|GTCAGTGTCTATCTGGAAATTTCTACGTGAGAGGTGATGGAACCAGAGTTTACTTCTTCACACAAG___AGGAACTGGACACGCTTTTCACCACTGCTGGACTGGAAAAAGTTCAGAACCTGGTGGATCGCCGACTGCAGGTGAACCGAGGAAAGCAACTGACAATGTACCGGG(TTTGGATTCAGTGCAAATACTGCAAGCCCCTTCTGTCCAGCACCAGCTGAGAGGCACCTGCTGCCAACACGATGCAAGCCCATTGTGTTTCCGGGCTTTTTTAAAAAAAAAATTGTAGCACTGGGCGTGGTGCATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGGCGGGGAGGATCCATTGAGCCCAGCAGTCCAACCTGGGCAAAATAGTGAGAGACCCTGTATCTGAAAGTAATAATAAAAATAAAAAATATAAATGAGGTCTCGTTGATGTTGGACAATTCAAGAATTCAGACTTGAACCTTAAACCTAGGAAAAGTTACTTTGTATCAGGATTCTAACAATTATGCTTCATATTTGTGAAGTCCTTTAAAACATAATTTTCTCAAGTTCTTTCTTTGAGATCTCAATCTGTCTTAGCATTTTGTAACTAATAACTGAAATTTTATTCAAAGGAATTGTAAACCTTAAACCACCAATTTATTTCCATGTGAAAAAGTGTTACATATGACAAGTGTTTTTTGACTGTAATTGCGTTAAATCTTTTGAGAATGTAAATGCCGGGCTAGGCAATTGCAGTTAATACATACAGAGGTTAGTGAAGGGCTTATTAAGTTGTAGGGGAAGCAAGCTGGGAAGAATCAGATCAGATATTTTCCTGACAAAAAAAAATGACCCTACAGAGAGCATCAAAATGTGGTGTTCTTGTTAAGTAATTGATCGTGGTCTTCGCTTTAATCTTAGTTCCGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCAGCTGAGGTCAGGAGTTGGAGACCAGCGTGGCCAACATGGTGAAACCCCGTCTCTACTAAAGATAAAAAAATTAGCTGAGTGTGTTGGTGGGTGCCTGTAATCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAATAAAAATAAAAAAAAAATCTTAGTTCCATGGAATTTTAAGCATTGTTCCCCCTCTAACCTGTGTCTAAAGAATTAAAAGAATTTGGCCGGGTGCGGCAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCTCGTCTCCACTAAAAATACCAAAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGTCACTGCATTCCAGCCTGGGCAACAGAGGAAGACTCCGTCTCAAAAAAAAAAAAGAAAAGAATTTTCACTTTTTGCAAAATTATCTTTTTTAATGCACCCTTAAGTGTTTGACACAAAAGGAATTGAGGGAACTTCTTAATTTTAACCACATCATCACTTCACTTCTGAATGTGATCATTATCAGTGTTAGATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGGAGACAGGGCTCTCACTTTGTTGCCCAGGCTGGAGTTCAGTGGTGCAATGATAGCTCATTATCACCTCAAACTTCTGGCTCAAGCCATCCCTCCGCCTCAGCCTCCTGAGTAGCTAGGACTGCAGGTGGGCACCATCATGCCTAGCTAATTGTTAGATCCTTTTTTTTTATGTTCTGCATTTTTTCAGTTATTTTTACATATTTCTCTCTTGATCCATGCAGTTATAGGATATATCCTTAATTTTAGAAAGTAAGGACTTTTCGACCAGGCGTGGCGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCCAGTCCAGCCTGGCTAACATAGTGAAACCCCGTCTCCACTAAAAAATAAAAAATCAGCCCGGCATGGCTGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGTAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTGCATCTCAGAAACAAAGATGCCTAGCTTTCACCTTGTTGATGTTTTTCTAAATTTTGGAATAATAAATTTATATAGGAATACTGCAAGAATAGTCCATTTTTTTCTGATGTCCCAACATCACCAAATGTATCCATCACAAGTAGGAATACATGGAAACATTAATGCCAGCCACTAACCATTCATGTTTACCCAGTAGTCCCAATAATAGCTTTGTCACACAAAAACATGATTATGTTGGCTGGGCACAGTGGCTCCTGTAATCCTAGCATTTTGGGAGCCCAAGGCAGGAGTTCAAGACCAGGCTGGGTAATGTAGCAAGACCCTGACTTTTTTTTTTTTTTTTTTTTGAGACAGAGCTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACAATTTCAGCTCACCGCAACCTCTGCCTCCCAAGTTTAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCATTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAAGACCCTGACTTTTTAAAAAATGTTAAAAATAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATTTGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACTTAATGAAACCCCATCACTGCTAACAATACAGACCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCAAGGTAGGTGGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATAGCCAGGTGTGATGGCGCATGCCTGTAACCCCATCCACTTGGAAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTATTTGGGAGGGTGGCTCTAGAGAATCATTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGTGAGACTCCGTCTCAAAATAAAAAACAAAAAAAATGTAAAAAATAAATAATTGTATTGAATTTATTAGTTGTGTCTCAGTCTCCTTCAGTCTACGGGTTAGGCTTGCTTTTGCACCTTTGCATTTTAAGGTAAGAGGCTATTGTGTAAACTCGAATTGGGTTTGTTGGTGTTTCTTCATGATTTGGTTCAGGCTCTGCATTTTGGGCAGGAATATTCAGAGGTAATGCTGTGTTCCTCCCATAGGATCGTATCAGGCGACACATGATTATGAATTTCCCCATTATTGGTGATGTCACTTAGTTGTGTTGTCTGCCGGGTTCTGCCACTGTAAAGTTAATAAGTATTTTGTAGGGAAGTGCTTTGAGACTAAATATCCTGTTCCTCATCAAACTTCTACCCCCTAGTTTCAGTATCTATTGCTGCTTTTTGGCTGAATAACTATGATAGTTGCCAAATAGTGGTTTCTGATGCTTCCATTCCTTCTACACTGATTGGTTGGTATTTTGTACAGAAAAGCTTTCTCATATCTGATTTACTTGTCTCAATATGGACCCATGGGTATTTGAGTTTCTTGTGGGGTTATTTGTTGTTGTTTTTGAGACAGGCTCACCCAGGCTGGAATGCAGCAGCACGATCACTGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCCCAGCCTCCCAAGTAGATGGGACTACAGGCATGTGCCACCAAGCCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCATCATGTGTCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATGAGCCACTGCGACTGGCCCCACTTAATGGGTTTTCAGAGGTGGGAGCAAAGAATGAAGGGAGGAAGAGAGCTCCCATCTTTTCCATTACTGTATTTACTTAAAACTGGAAAAAACTGAATCACTGGGATGGTATTTCATTTATCTTTTGAAATGAAGAATAGATACATTAATTTAAATGATTCTCTAAAGACTGTCCTTCAGCATCCCTAAAGCATTTCAACACTATAGGCACAGTTTTTATTTTATCTTTCTGGCACCTGGTTTGGGCTTTGGGCTTAGATTAAAAAGACGAGCCTTCTCCTGCCCCTGCTCCCTTTTATTCTCTGCCATCTGCTAAGCTCGACTTTTTATCTCTCAGGCCAAATTTGACTCTGCAAGGGACTTTGCATAACGTTTCATCCTCAGAATCGCTAATGATGGGCAGAGGACTGTTACATTTGTTGGGAGGGATTAAAGTATATGACCTCAGTGCCACTTAAAAAATAAATACTGTCTCAACTAT)$ MMEELHSLDPRRQELLEARFTGVGVSK|vsvyleist* 05CO044 ENSG00000143442.22 ENSG00000227109.1 -/- +/- chr1:151440928 chr1:202096832 CDS/splice-site exon duplication/5'-5' 1 3 0 215 5 high out-of-frame . . . . ENSG00000143442.22 ENSG00000227109.1 ENST00000271715.7 . upstream downstream . ^(GTATCCCTCCGCGGGGCGAGAGGGTCGGTGGGGGGAGTCGGCGTCTCTCTCCCCCGCGCCAGCTCCCGTACACGGAGCCGCATTCCTTGGCCCCCCCACCCCCCTCCCTCGGGGCCCCCCCGCCCCCCTCGGGAAAAAAATCCACCCCGAATCACTCGAACCCGAGGGAGGCTTCCTTTCACCCTTGGGGAGACGAGCTTTCAACGGTTACCTCTTCTTCGTCTCCCCCCAAGCCCCCGTCCCCTCCCCCTGCTCCCACCCCCTTCTGGCGCCGGGTGTAAGGTCCCTTTAAGGCGACGGCGCCTTCCTCGGGTCAGACTACCGGCGGCGACGACCACAGGAG___CATGGCGGACACCGACCTGTTCATGGAATGTGAGGAGGAGGAGTTGGAGCCATGGCAGAAAATCAGTGATGTCATTGAGGACTCTGTAGTTGAAGATTATAATTCAGTGGATAAAACTACCACAG___TTTCTGTGAGCCAGCAGCCAGTCTCGGCTCCAGTGCCCATCGCTGCCCATGCTTCTGTTGCTGGGCA)CCTCTCTACATCCACCACCGTTAGTAGCAGCGGGGCACAGAACAGCGACAGTACAAAGAAGACTCTTGTCACACTAATTGCCAACAACAATG|GAAGGGCTGCTGTTGCTGCTGCTGCTGCTGaTGATGACGATGACGATGGTGACAATAACATTTATTGGGCACTTACTATATACCAG MADTDLFMECEEEELEPWQKISDVIEDSVVEDYNSVDKTTTVSVSQQPVSAPVPIAAHASVAGHLSTSTTVSSSGAQNSDSTKKTLVTLIANNN|graavaaaaaddddddgdnniywaltiy 05CO044 ENSG00000117054.14 ENSG00000233020.1 +/+ +/- chr1:75734871 chr1:70530650 CDS/splice-site exon inversion/3'-3' 2 1 0 159 3 high out-of-frame . Acyl-CoA_dehydrogenase__N-terminal_domain(100%)| . . ENSG00000117054.14 ENSG00000233020.1 ENST00000541113.5 . downstream downstream . ^(CTGCACCGCGCCGCAAGTCCCCCCACCGTTCAGCGCAACCGGGCCCTCCCAGCCCCGCCGCCGTCCCCCTCCCCCGCCCTGGCTCTCTTTCCGCGCTGCGGTCAGCCTCGGCGTCCCACAGAGAGGGCCAGAGGTGGAAACGCAGAAAACCAAACCAGGACTATCAGAGATTGCCCGGAGAGGGGATGCGACCCCTCCCCAGGTCGCAGCGACGGCGCACGCAAGGGTCACGGAGCATGCGTTGGCTACCCGGCGCCGGGGACCGCTGCCACCCCGCCTAGCGCAGCGCCCCGTCCTTCCGCAGCCCAACCGCCTCTTCCCGCCCCGCCCCATCCCGCCCACGGGCTCCAGTGGGCGGGACCAGAGGAGTCCCGCGTTCGGGGAGTATGTCAAGGCCGTGACCCGTGTATTATTGTCCGAGTGGCCGGAACGGGAGCCAACATGGCAGCGGGGTTCGGGCGATGCTGCAGG___AGTTCACCGAACAGCAGAAAGAATTTCAAGCTACTGCTCGTAAATTTGCCAGAGAGGAAA)TCATCCCAGTGGCTGCAGAATATGATAAAACTGGTGtA___TATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTG___CAAATGCCTATTATTATTGCTGGAAATGATCAACAAAAGAAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTGT|CAAGACCAACCCTTTAATGCATCATAAAAGACTGGAACACCTGGGTGGTATGTGCAAGCATCATCGGAATCGGTCTCAGGATCGAAGCGCTGACCGCAGCCCCAGTTGTAGCACAGCAAGGCCATTTTCTTTTCCCACCGTCACAGGCAGG MLQEFTEQQKEFQATARKFAREEIIPVAAEYDKTGvYPVPLIRRAWELGLMNTHIPENCANAYYYCWK*STKEEVFGEND*GAIDV|srptl* 05CO044 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 13 8 0 28 93 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream mismatches(2) GTGTAGCGTTGCCATGGCGAGGGCCGGGTGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCaAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAG?GGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCT(CACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 05CO044 ENSG00000134333.14 ENSG00000114857.18 +/- +/+ chr11:18394561 chr3:42648069 5'UTR 3'UTR translocation/3'-3' 5 1 0 1888 133 medium . . . . . ENSG00000134333.14 ENSG00000114857.18 . ENST00000232978.13 upstream upstream . CAACAACTGTAATCTTATTCTGGGGGGTCTGTTCTTCCTTTAGAAGATTATAAATCAGCTGATCCTTTAGAGTTGCCATATTGGACTTGGAACCAAAAGGAAT___CGGGAATGCACGTCGGGCGGTCGTCGGGGGCGCGTGGCAATGAGATCCGGAATCGGCGGCAGCGGCTGCAGCACcC|CTGCATTCCTTCTTATGTGGTCCCCTCCAGCTTCAAACCAGCCTTCCTGCTCTTTCTCATGCTTCATATCTCTCTCCCGTCCTCCTGTTTTAGGGGCATATGATTAGCTCAAGCCCACAGATATATTTTAAGGTTGATTGTGCGATAGAACATAATTGCAGGAGTACTGTCTCATCTCATCATATTCACG(GGTTCTGGAGATTAGCTCATTGAAAGTGGGAGGGGCATTTTCAAATTCTGCCTACCACAGGCAATAACTGCCCATCTCAGCTGTAGGTGGAATTTTTACCCAGAAAAGATAGGCCCTAGAAGCCTCATTTCTTTTCTCCATGGAAAAGGACAGCCCTCTGCTGCAGCGTTCAACTTGTGTGTTTACTGACAGAGTGAACTACAGAAATAGCTTTTCTTCCTAAAGGGGATTGTTCTACATTTTGAAGTTATTTTTTAATAAAATTGAATTATGTTGTGTATTGTGCTTCTTAATAGGAAATGCATTATTGGACTGTTTTTGTAACATCCTGTTTATTGCAAATAGCTAGTATCGTTCAAAAACTGTATAAAATACTTTTGTACATATTAGCAATGTCTAATTTGTATACACTTCAGTTAAATTTCCCTAAAACTTGAAAGGGGACCTTGTAGAAATTAAAATATATACTTAGTCTAA)$ . 05CO045 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 11 0 26 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),mismatches(2) GCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO045 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 7 9 0 24 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),mismappers(1) GCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCAC(CCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO045 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 6 0 228 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAA)CCaATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___ATCgAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKSNEASRRTQTLGRTQKPRVAKTEANTTKT*RGASAA*GRNDPTQRTGGTEATARGL*AKLHGK|w* 05CO045 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 10 0 14 89 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1) GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCT(GCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO045 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 21 20 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2),inconsistently_clipped(2),mismappers(1) CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCG(TCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05CO045 ENSG00000149346.15 ENSG00000224961.3 +/+ +/+ chr20:10458231 chr20:10753031 CDS/splice-site exon/splice-site deletion/read-through 1 4 1 27 23 medium out-of-frame . . . . ENSG00000149346.15 ENSG00000224961.3 ENST00000334534.10 ENST00000417299.2 downstream upstream . ^(GAAAGTGCTTCCCTTAAGCTTCTGAAGGTTGGCTGCAGTTCCGGCTACCTG)TGTAGTCCGAGTTTCCACAGCCAGGTACTACTCCGCCAGTGACCCTGGACAGTAACAAAACATATAAAGCCCGAGCCCAAACCCCGCCACCATCATAG___GTCTGTAGTTACTGTGGAATCAATAAGCCATGGCATCTAAGAAATTTGCTGTTAAA|GTTGTTTAATCTAATGTTCTTTGGAATAAAAACCTCCCTGCCAAGTAGTACTTGGTTTTATGCTCAACATGCTTTGACTGTTGAAAAGAGACCTTTGGCACACATTGAAGGGATG___GTGATGGAGATGCCAATCCATGGAATCAGGTGGCACAGCTATGTTGGTAGCTATAGCAGAAGTCTTCTTGGCAAAGATTCCT(CCAGGGAAGGAAGGTACCATTGGAGAACCATGCATGAAGACAGGGAAGAAATGATTGGAATCATGAAACATTAAACTGGAAGGAAGCCCTAGGCAAACCTAACTCATGGGAAAACAGACACCCACATGTTACCCAGTTTAGTACCAAAACCAAGGCTGGTATTTGCATAAATATACTTTTCTTCTCTATCTAATATCAAGGCCTTCTTAGTATTGTTAATAGGCCTTAAGCTTGGTTTGTCTACATAGAAATCAAAATAACAATGTCAACCCATGAAAGAATTAAAAGAAGTCCCAAACAGTTCTGATTTCCTCCAATGTGACTATTTCTGATATATTATAAAATAACAGAAATCAAACTC)$ MASKKFAVK|vv* 05CO045 ENSG00000149346.15 ENSG00000270792.6 +/+ +/+ chr20:10458231 chr20:10845008 CDS/splice-site intron deletion/read-through 4 1 0 27 10 medium out-of-frame . . . . ENSG00000149346.15 ENSG00000270792.6 ENST00000334534.10 . downstream upstream . ^(GAAAGTGCTTCCCTTAAGCTTCTGAAGGTTGGCTGCAGTTCCGGCTACCTGTGTAGTCCGAGTTTCCACAGCCAGGTACTA)CTCCGCCAGTGACCCTGGACAGTAACAAAACATATAAAGCCCGAGCCCAAACCCCGCCACCATCATAG___GTCTGTAGTTACTGTGGAATCAATAAGCCATGGCATCTAAGAAATTTGCTGTTAAA|AAATCTGAAAAATCTCAAAAGTACAATGAATAATGATGCATGTTCATACACTCACCAATCAGAATTGAAGATTGTTAAAATTTTCACCAATTGAAATAAAAGAAGTAAAGGATTACGGCGAATGATAAAGTCCTC MASKKFAVK|kseksqkyne* 05CO045 ENSG00000120159.13 ENSG00000153707.17 -/- -/+ chr9:26884810 chr9:10381974 CDS/splice-site intron inversion/5'-5' 0 3 0 72 3 medium out-of-frame . . . . ENSG00000120159.13 ENSG00000153707.17 ENST00000333916.8 . upstream upstream . ^(AGTGCCTGCCGCCCACGGCCGCAGGAGTCGGGCTTCGGTCGCACCAGAGACAGCGGACTTTCCTCCGATGGTTGCAGCAGAGGGATCATGACGGGGAAAAAGTCCTCCCGGGAGAAACGGCGCAAACGTAGCAGTCAGGAGGCGGCCGCAGCGCTCGCGGCCCCGGACATCGTACCCGCGTTGGCCAGCGGCAGCAGTGGAAGCACTAGCGGCTGCGGGAGCGCCGGGGGCTGCGGGAGCGTCAGCTGCTGTGGGAACGCCAATTTTAGTGGAAGTGTCACCGGCGGTGGGAGCGGCGGCAGCTGTTGGGGCGGGAGCAGCGTGGAGCGCAGCGAGCGCCGGAAGCGGAGGAGTACCGACTCTTCCAGCGTCTCGGGCTCCTTGCAGCAG___GAAACTAAATATATTTTGCCAACTTTGGAAAAAGAATTATTCTTGGCAGAGCACAGTGACCTTGAAGAAGGTGGACTGGACCTGACTGTGTCATTGAAACCAGTTAGTTTCTATATATCAGACAAAAAAGAAATGCTTCAGCAGTGCTTCTGTATTATAGGAGAGAAAAAGTTACAGAAGATGCTTCCTGATGTGTTAAAG___AACTGTTCAATAGAAGAAATTAAAAAACTATGCCAGGAACAGTTAGAGCTCCTGTCTGAAAAAAAAATTTTGAAGATTCTTGAGG___G)TGACAATGGAATGGACTCTGATATGGAAGAGGAAGCAGATGATGGTTCTAAGATGGGATCTGATTTAGTCAGTCA|AGAATAGTTCTACCATCTTCCCAGTTCACAAGTAAGAAAACTGAACCTTTCTTACATCTTACTTCTTATTCTTCAAATCCA___GTTGAAAATGGATGACACCTTATCAGATCATCAAAGCACAGTATTACCAGAGTTATAGTGTTGAATGTGTTTCATCTG MTGKKSSREKRRKRSSQEAAAALAAPDIVPALASGSSGSTSGCGSAGGCGSVSCCGNANFSGSVTGGGSGGSCWGGSSVERSERRKRRSTDSSSVSGSLQQETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSq|e* 05CO045 ENSG00000092098.17 ENSG00000100908.14 +/+ -/+ chr14:24148505 chr14:24140826 intron intron duplication/5'-5' 2 0 1 3 4 medium out-of-frame . PUB_domain(100%)| . . ENSG00000092098.17 ENSG00000100908.14 ENST00000559275.5 . downstream upstream . ^(AACTGGAAGTCCAGGGTTGGG___CCCCGAAACTACCTCAACACCCTGTCCACGGCTCTGAACATCCTGGAGAAATACGGCCGCAACCTTCTCAGCCCTCAGCGGCCTCGGTACTGGCGTGGTGTCAAGTTTAATAACCCTGTCTTTCGCAGCACGGTGGATGCTGTGCAG___GGGGGCCGAGATGTGCTGCGATTATATGGCTACACAGAGGAGCAACCAGATGGGTTGAGCTTCCCCGAAGGGCAGGAGG)AGCCAGATGAGCACCAGGTTGCTACAGTCACACTGGAAGTACTGCTGCTTCGGACAGAGCTCAGCCTGCTATTGCAGGTGAGATGCTCCTCTAGTCTTGATGGACTTATGCACCAGGGCTGGGGAGCCCAGCCTAACTCAAGTAAGTTTGAGGACCCCCGTGCTGCaG|t|TCTATTCCTCCAATCCCCAACCCGCCATAATCCTTTCCTTCTTCCTCTGGCTACGCCACTCACCTCTGATCGTTCACAGCTGCATTGGCATGGTAGTAACCAGCCACCACCAGACCGGCCTGTGCTCCCCACACATCCACC MDLCTRAGEPSLTQvslrtpvlq|fyssnpqpaiilsfflwlrhsplivhscigmvvtshhqtglcsphih 05CO045 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 2 0 68 8 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream . ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTT)ATTTAATGGGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGGCCGAATGGCCTTCACCCTCCATTAACCCTCGCCTCCTTCAGAAGCCAGTGCCTCTGGAAATGCCTGGATCTGCGACCCCAGCCTGAGCCTAGTAGGGCCCAAGGGAAGCTGAACG . 05CO047 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 12 18 0 51 47 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),inconsistently_clipped(1),mismatches(2) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGC(TCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO047 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 14 2 26 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),mismatches(2) TGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO047 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 9 11 0 46 26 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismappers(2),mismatches(2) CCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGAGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCC(TTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO047 ENSG00000102054.18 ENSG00000252491.1(97654),ENSG00000242021.2(154967) -/- ./+ chrX:16853682 chrX:26887940 CDS/splice-site intergenic inversion 6 13 1 323 32 high out-of-frame . Histone-binding_protein_RBBP4_or_subunit_C_of_CAF1_complex(100%),WD_domain__G-beta_repeat(100%)| . . ENSG00000102054.18 . ENST00000380087.7 . upstream upstream mismatches(1) ^(ACTTTTCCCAGGGCGGATGCGCCTGCGCTCAGCTGCCTGGGCGGGCTGGGAGGCGCGGGTTGAAAAGTCTCGTTCCAAGTTTGGAGAGAGAGAGAAGAGCGCCTCAGACCTCGGTACCCGCGAGCGGGGAGGAGGCAGGAAAGAAGGACGCGGCGTCTGGGGAGCACCCAGGCAGCAAGACGGGGCCCGGGCTTTCGACAGTGGGGAGTGTGACGCGCTTGGGAAAGGCAGGAGCGCCAGCGGTCGGGCTGCTCTTGGCTAACGAGAGGAGTCCGAGGCGGCGGCGAGGGGCGAACGACCCGACGCAAGATGGCGAGTAAAGAGA___TGTTTGAAGATACTGTGGAGGAGCGTGTCATCAATGAAGAATATAAAATCTGGAAGAAGAATACACCGTTTCTATATGACCTGGTTATGACCCATGCTCTTCAGTGGCCCAGTCTTACCGTTCAGTGGCTTCCTGAAGTGACTAA___ACCTGAAGGAAAAGATTATGCCCTTCATTGGCTAGTGCTGGGGACTCATACGTCTGATGAGCAGAATCATCTGGTGGTTGCTCGAGTACATATTCCCAATGATGATGCACAGTTTGATGCTTCCCATTGTGACAGTGACAAGGGTG___AATTTGGTGGCTTTGGTTCTGTAACAGGAAAAATTGAATGTGAAATTAAAATCAATCACGAAGGAGAAGTAAACCGTGCTCGTTACATGCCGCAGAATCCTCACATCATTGCTACAAAAACACCATCTTCTGATGTGTTGGTTTTTGACTATACAAAACACCCTGCTAAACCAG___ACCCAAGTGGAGAATGTAATCCTGATCTCAGATTAAGAGGTCACCAG)AAGGAAGGCTATGGTCTCTCCTGGAATTCAAATTTGAGTGGACATCTCCTAAGTGCATCTGATGACCAT___ACTGTTTGTCTGTGGGATATAAACGCAGGACCAAAAGAAGGCAAAATTGTGGATGCTAAAGCCATCTTTACTGGCCACTCAGCTGTTGTAGAGGATGTGGCCTGGCACCTGCTGCACGAGTCATTGTTTGGATCTGTTGCTGATGATCAGAAACTTATGAT|GTAGCAGAAGACAGCACCTGCTGTGAATCCAGGTTCTACTGGGAAGTCCTAGCTCCTCACCTCTGGTACCTCTTTATTCTTTCAGCCCTACAGACTGTACTGACACCATATAATTGCTAATTTCTGAGTTGGCTCATCATCCTCAATTTTAATCCATCTGATGTTTTTATAACTAGCTCCCTGCAGTAAGTACTTTGTAATGAACTATTTGATGTGAGTCTGTCTTCCCCACTGGATCCTCATACACaTGGAAAATAC MASKEMFEDTVEERVINEEYKIWKKNTPFLYDLVMTHALQWPSLTVQWLPEVTKPEGKDYALHWLVLGTHTSDEQNHLVVARVHIPNDDAQFDASHCDSDKGEFGGFGSVTGKIECEIKINHEGEVNRARYMPQNPHIIATKTPSSDVLVFDYTKHPAKPDPSGECNPDLRLRGHQKEGYGLSWNSNLSGHLLSASDDHTVCLWDINAGPKEGKIVDAKAIFTGHSAVVEDVAWHLLHESLFGSVADDQKLMm|* 05CO047 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 3 0 118 28 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|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO047 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 3 9 0 13 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 mismatches(1) GCCGAGCCCGaTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAG(CTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO047 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 6 0 31 13 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAG)GTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO047 ENSG00000258555.6 ENSG00000185666.15 +/- -/- chr22:24402525 chr22:32541713 intron CDS/splice-site duplication/3'-3' 2 1 0 3 3 high . . |Synapsin__ATP_binding_domain(100%) . . ENSG00000258555.6 ENSG00000185666.15 . ENST00000358763.7 upstream downstream . CCCAGGTCCACCTTCAGGCAGAGGTGGTCCTCACTGGTCCTCCAGCTTCACAAGGACACCACACTGTTAAGCTGCAACCCAGTGCACTCAGAATGAAACCTGCTGGGGATCACAGCCCAGCCTCATGAG|ATCAAAGTGGAAAACCAGCTTGACTTCCAGGACATCACCAGCGTGGTCGCCATGGCCAAAACCTACGCCACCACCGAGGCCTTCATCGACTCCAAGTACGACATCCGCATCCAGAAAATTGGATCCAACTACAAGGCTTACAT___GAGAACCTCCATCTCTGGGAACTGGAAGGCCAACACAGGCTCTGCCATGCTGGAGCAGGTGGCCATGACAGAGAG(___GTACAGGCTGTGGGTGGACAGCTGCTCGGAAATGTTTGGCGGCCTGGACATCTGTGCCGTCAAGGCTGTCCACAGCAAGGATGGCAGAGATTACATCATCGAG___GTAATGGACAGCTCAATGCCGCTGATTGGAGAGCATGTGGAAGAGGACAGACAGCTGATGGCCGACCTTGTTGTCTCCAAAATGAGCCAGCTCCCGATGCCAGGAGGCACAGCGCCCTCCCCCCTCAGACCTTGG___GCTCCACAGATTAAATCAGCGAAATCCCCAGGGCAAGCCCAGCTGGGGCCTCAGCTAGGCCAGCCCCAGCCACGCCCACCTCCGCAAG___GAGGCCCTCGCCAAGCTCAGTCTCCTCAGCCCCAGAGATCTGGAAGCCCCTCCCAACAGAGGCTCTCCCCACAAGGCCAGCAGCCCCTGAGCCCCCAGTCCGGATCTCCACAGCAGCAAAGGTCACCAGGCTCTCCGCAGCTATCCCGGGCATCCAGTGGCAGCTCCCCAAACCAGGCCTCCAAGCCAGGTGCCACCCTCGCCTCACAGCCCCGGCCCCCTGTGCAGGGCCGTAGTACCTCCCAGCAGGGTGAAGAGTCCAAGAAGCCAGCACCACCCCATCCGCATCTCAA___CAAATCTCAGTCCCTGACTAACAGCCTCAGCACATCCGACACCTCCCAGCGTGGGACCCCAAGTGAAGACGAGGCCAAGGCTGAAACCATCCGCAACCTGAGGAAGTCTTTTGCCAGCCTGTTCTCTGACTAACGCCATCCAGGCTGGGAGGGGAAGAGTGCTCTGCTACACTCGTCCCCCTCCTGCCTCATCTTCCTTCTCAGCCTTGGTTCCTGATGGGAACAGAATGGAGGGCCTGAGAACATACTTTCTAAATGCCTTTGACCCAGGAACCGATTATCTATATTTGTTCCCATTTTCCTTCACCGTGACATTCCAGCATTGTCTGACTGTGAGGTGGGCCTTTGAGAGCCTCCAGGTTCCTCAAAACAGGCCTGAGCGATGGGCATCACACCCTCTGCCTACCCACGTGCCTGCTTACCTGCCAGATAACCAAGTGAGATGTCTGCGAGTGGCTAGTTTTCACATTCTTACTAGTGTTTGGCTCACCTTTGGGCAAAGGCCCCCTCTAGGCCTTGCCCCACCTCCATCAAACGCAGACACTGTAGTCAGACCTCAGCAATATAGGAGGCAATAATCTTTTAACAGTGTTTTGCAAACAAACAAAAAGAGAAAAATCCCAGCCAGGGGAACTCGCCACCTGCCCACGCTAGTTCCATCCACGCTCAAGACCCGCCCTTAGACCAGGCAGGCAAAGGCCCCCATCACACTCGGCCACTAGTGGGGTCCTGAGGCCAAGAAAGAAACCAGACCCTGTATGACAAGTGGGGTCTTTCAGAACACGACAGAAACAGGGGGGCCCTTGTAATGCCACTCATACTCAGAGCATTATTCTTATTTGGACAGCCAAGGGCAGATCACAGGTTATTGTAGGAATAAAGACTAGTTTACAAAGGAGAAAGAGGCCCTGGACTTCCCAAGGAAAGGGTCAGGTTAGGGCTCCTGTACCCATTCTGTTCCACCACTGTTTGATCTCTCTGGCCTCCCACCAGGAATGCCGTTTCCTTTTTATGGATCTGTTGGGAACCAGAGAGAATCAACAGATCAATGACATAGGATCCGAAGTGCAATGATAGTCACTTCTAGTTTGGCATTTCACAAACTCTGTACAGCAAGGTATTGGTAGGTTACTCAATTTCAAAAGGGCCCCATGGCCAAATATGTTTAGGAACCGCTGTTTGTATTTCTTTTTTTGGAGACGCATTGTATATAATATATGTCAAAGGCTTTCGGAATTCCTGCAGGAAAGAAATCAGCTTTGTTAAATCCAAACTGATGATTTGACTCAATAAGTTAGTTGCAGAGCTGGAAAAAGTAGTCTAACTCCCTTCCCAGTGCTCTTTCCCCTATACCAGTCTGCCTCTCATGCTTAGACAGCGTTCAGCGGTGATCCAAATCACCAAGCACCTGGTGCTGGAAACATTGTAGGTGCCAGAAGCAGCCTCCTGGTCCCAAAGAGAGCCCAAGATATTAGAACATAGCCATGTTAGCCCCTTGCCTCCCACTTCGCAACATGAGACATGTCTTCCTTTTGCTGTCCACAGGGAAGGGAGAGAGGGAGGTAAAAATGGAAGTGGCTTTGGCCTGGAGCAGCTTCTAGTTATGCCCAAGCAATGTAGATTGTTTGGTAATCAGCCAAGATCCATCCAGGTTCCCAGGAGCATAAAAGCAATCATCTCCTTTTTGGTCCTTCAAAACCAAACTGGAGTGGTGACGTCAGGGCCAGAGACCCTCTCCTTCTGTGGGCATTGGATCACTTAGAACTCTCAACCTCAGAAAAGCCTGCCTTCAAGCTGGCTTTTGACGGGCTATTGGCTGGAGACTGGGTCAGTATTGAAAGTGCTAGCTGTGCACCTGGCTGCCAGAAAGCCACTTGGCCTTTAGGACAGTCCTCTTCACATTGCCCTCTTCCCTCACTCATGATCAGGTCTGGATTTAAGAGCAAGAGACCCCAGGATAATTCAGAAGTCCTCTCTCTCCTCCTGTTCAAGACTCTTGGTCTGGGATTCAATAATAAGTAGCAGACCTGACATAAGAAAGATCAGATAGGTCCAATTGCCAGTGACTATTGGGAGCCATAATTTGGCAGCTGGAGACTGGTAGGCTCAGGCCTGATTAACACTGGCTAGGATCAGCAGCAAATAAAATAGCCATTGTGTGAGGTGAGAGGTGAAGAGGTGAAGGCCTGGTACTCTTTCTAGCGCCCAAAAAGCCCACCACCCTTACTCTGTCTCCATGCTCGGCTGAGTTCCATGTTATAGGACAGTCCCTGCATGTCTGGCATGTCTGGAGCTCACTCTGCCCAGTAACACATCTCCCTTCTTTTTGCTCAGCCTGTGCAATGCAACAGAACTAGTCTGGCCAGGAGCTGGCAGAATCCTATCCAGAGGCAGCTGAGATGATGCAGTGGGCAGTCAGACACATGAAGCTGCTGCTTTGCAGGCATCATTGTCGACACATTCTTCTAGACCCCCAAGGTGGGTGGAGGTGGGGGTCCTGGGGTCAATATCCCACAGTCATGCTTGGGGGAGGTCAGGTGATGGCAAGGAATAGATCAGACCATTTATAATCCGGTAGAACTTTGCTTCATCCTCCTGCTGCTGCTCACTTAATTCTTTCACCACTCCCTTGGAATTTCTGAAGAAAGCCAAGTGGGGCATAGGGAAAAGAGACGGGAGGTGAAATTCAAAATATCAGATGTGGGTACCTTTTAAAGTTATTCTGTTAAAAGAAATCTAACAGAAGAGAGTATAAATATTGATTAACATAAGGTTTGATGATTAGCCAGTGATTCTAGGAGTCCCCTTACACACACACACACACACACACACACACACACGCCTGGACAATAACTTGGAATTGACAAATGCACATCCTAAAATCCTGTCACCTCGCTATGAGTTCATAGTTCTCTGATAACCGGCTTCAAGAGGAGAATGGCTTCCCCACTTGCCCCCAAGAAGATAGGGATCACTAGTATAAGTCACACGATGAAAGAACCAGAATACCAGCCTCTCAGACTGGAAGGTTCCTGGGCCCTTCCCCCTTCTTTCCTGACAAGGGCAGGTGAGGTTCCCCCATTAGAAGGATCTGGGGCACTGCTTATAAGAGCAGCCTGTTACAAGATTCAAGCACAGAGAGCTATAGGAGTTGAAGTTTGGTTTCTTCCACTTAAAAAAATATATATCCACCCTCCTTACTCAGGGGTAGACCTTTCAAATATTAATAAATAATGCTGTGTGACATCCTGAATAAACGGGTAAGAGAAAACTTGTAGGGCAGGGTGTAACCATGAGGTCCTCAAGTTTCAGGAGATTAAGAACACAGGAAACCCCTGTGGCAATCGTCCCTCTTCAACAATCTCACCCAGTTTTCACTTAGTAATAAAAGACAGCTCAAAACATACAACTGAATGGTAATAGGCTGGACAAAGTTTCTCAACCTGTGGGCCACGGCCATGGGCAGAGCTAGTTACAAAGGCAGATGAAGCTTCATGTCGGACTAAAGGAGTCCGAATTTCTGGTCACAGGACCCAGAACCTGCATCTTTGTCAATCTCCCCACTTTGAATGCACTTTGATGTGAGACCAGCAAACCTGAGCTGGGCTCTGTGGGAAAGCCACTGCATGAGAAACAGTACTGCTACGGGTGTGCTGCAGTCTCCAACGCAGCTACGAACCCACTCCTTTAGTGAGTGAAACTAGTGGCCCCGTGAACAATGACCACATGGCCTAAATTCTCCCATATTCCTATATTCTGTCCTTTGGCCTCAGACACACCTCAGCATCCAAAGGATATCTCCCAGATACTCCAGTATCTGTGTACAACAGCCGCAGAACCTCCTTCCAAGCTCCAAATCAGGCCAGGCATCCTGATTTTTATAACCATACTCATATATCCAGATCCATGACATAACACTAGTTTATAGCCAACACATTTAAATAATTTCCCCACTGGGGCCAGGCGCAGTGGCTCACATCAGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATGACTAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAATAATAATAATAATAATAATAATACTTTCCCCATTGGTCTGTGTATGAACATAGGAACCAAGGACACATAGGTCTCATGGCGACCCTAAAATAGTCTGTTCTGTCACATAGACTAGTACCTGTTCCTTCCAAACATGTAACCTTTAATAATTGTGACATTTTGAAATGGGAAAGGGCAAAAAGGAGGGAGAGGGGAGTCATGCTGTATAGACTCTAAAATGTTATGTTTGTTGTTTTTCTTGCTTTGTTTCACAACTTTGAGCCAGAGAGAGGCTAGCATTTTCCCTCCAAGCTGACTCGGGGAAGCTGAAACACAACAAAGACCTATTTGATTTGTTCACAATGAACAGGGATTTAAAAACGCAGCCTTAGCGGACAGCTCTACCAGCCACAGAAAAGTTCTTCCAGATCTTCCTCCCGTCAGCGCGATAAAATGGTACCGTACTTTGGTTAAATGTAAAATCAGCTTTCCAGGAACAGTGGCATATCCTTTCTCTTCCATCAGTTCCCTAGATTCTCTTCATTACTACATTCTCTAGCCTAACATTCCGTCCCTGCTGAATTAACTAATATTCAGATACATTCAAGATAGAACTAACACTCAATTCTATCTTTCCAAAATTTAAGGGGATGATAGGTCTTCACTCACATGGTAACAAACACAGCAGCAAACCCCATAAAACTGAACATCAACTGCCTTCTGGAAGTTCTCATCTGGCAAGCTAGTGCAGGTATCTTGTGCATGGGTCAAGAGAGTGAAGCTCAGAGCACATTGCTTGGCACCCAGCAGGTGTTCAGGACATGTTTTAGCTCAGCCCTCCTAGAAAACTATGAAATAAAATCCAAACAAAAGTATTAAGATTGAAGTAAAAAGATGTTTTTCTAAGAGTATCAATATATGGAAGTCACTTGCCCAGGAACAGAATCAAACAAACCAAAACCCAGTAAAATGAGATAGAGAAAAGAAGCGGAAGAAGATCAATGGCAGGTTTTCAACCTCAAAAAGACCTCTTCCAAACTGAATCTGAAGAGGAATGGGAGGAGGCAGAATGAGAACATGAGACCTCTCCTTGGGGCCCCTTTCATGCGCGTCTGTGTGAAGAGACCACTAAACAGGCTTTGTGTGAGCAACATGGCTGTTTATTTCACCTGGGTGCAGGCCGGATGAGTCCGAAAAGAGAGTCAGCAAAGGGAGTAGGGATGGGGCCGTTTTATAGGATTTGGGAAGGTAATGGAAAATTACATGCAAAGGGGGTTGTTCTCTGGTGGGCAGGGGCGGGGGTCACAAGGTGCTCAGTGCGGGAGCTTCTGAGCCAGAAGAAGGAAATTTACAGGGTTAATCACTCAGTTAAGGTGGGGCAGGAACAAATCACAATGGTGGAATGTCATCAGTTAAGGCGGGGCAGGGCCTTTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCATCTGGGCGTATACGCGCAAGTCACAGGGGATGCGATGGCTTGGCTTGGGCTCAGAGGCCTGACATTCCTGCCTTCTTATATTAATAAGAAAAATAAAACAAAATAGTGTTGAAGTGTTGGGGCGACGAAAATTTTTGGGGGGTGGTATGGAGAGAGAATGGGCGATGTTTCTCAGGGCTGCTTCGAGTGGGATTAGGGGCGGCGTGGGAACCTAGAGTGGGAGAGATTAAGCTGAAGGGAGGTCTCGTGGTAAGGGGTGATATTGTGGGGATGTTAGAAGAAACATTTGTTGTGTAGAATGATTGGTGACGGCCT)$ . 05CO047 ENSG00000100014.20 ENSG00000185666.15 +/- -/- chr22:24402525 chr22:32541713 intron CDS/splice-site duplication/3'-3' 2 1 0 3 3 high . . |Synapsin__ATP_binding_domain(100%) . . ENSG00000100014.20 ENSG00000185666.15 . ENST00000358763.7 upstream downstream . CCCAGGTCCACCTTCAGGCAGAGGTGGTCCTCACTGGTCCTCCAGCTTCACAAGGACACCACACTGTTAAGCTGCAACCCAGTGCACTCAGAATGAAACCTGCTGGGGATCACAGCCCAGCCTCATGAG|ATCAAAGTGGAAAACCAGCTTGACTTCCAGGACATCACCAGCGTGGTCGCCATGGCCAAAACCTACGCCACCACCGAGGCCTTCATCGACTCCAAGTACGACATCCGCATCCAGAAAATTGGATCCAACTACAAGGCTTACAT___GAGAACCTCCATCTCTGGGAACTGGAAGGCCAACACAGGCTCTGCCATGCTGGAGCAGGTGGCCATGACAGAGAG(___GTACAGGCTGTGGGTGGACAGCTGCTCGGAAATGTTTGGCGGCCTGGACATCTGTGCCGTCAAGGCTGTCCACAGCAAGGATGGCAGAGATTACATCATCGAG___GTAATGGACAGCTCAATGCCGCTGATTGGAGAGCATGTGGAAGAGGACAGACAGCTGATGGCCGACCTTGTTGTCTCCAAAATGAGCCAGCTCCCGATGCCAGGAGGCACAGCGCCCTCCCCCCTCAGACCTTGG___GCTCCACAGATTAAATCAGCGAAATCCCCAGGGCAAGCCCAGCTGGGGCCTCAGCTAGGCCAGCCCCAGCCACGCCCACCTCCGCAAG___GAGGCCCTCGCCAAGCTCAGTCTCCTCAGCCCCAGAGATCTGGAAGCCCCTCCCAACAGAGGCTCTCCCCACAAGGCCAGCAGCCCCTGAGCCCCCAGTCCGGATCTCCACAGCAGCAAAGGTCACCAGGCTCTCCGCAGCTATCCCGGGCATCCAGTGGCAGCTCCCCAAACCAGGCCTCCAAGCCAGGTGCCACCCTCGCCTCACAGCCCCGGCCCCCTGTGCAGGGCCGTAGTACCTCCCAGCAGGGTGAAGAGTCCAAGAAGCCAGCACCACCCCATCCGCATCTCAA___CAAATCTCAGTCCCTGACTAACAGCCTCAGCACATCCGACACCTCCCAGCGTGGGACCCCAAGTGAAGACGAGGCCAAGGCTGAAACCATCCGCAACCTGAGGAAGTCTTTTGCCAGCCTGTTCTCTGACTAACGCCATCCAGGCTGGGAGGGGAAGAGTGCTCTGCTACACTCGTCCCCCTCCTGCCTCATCTTCCTTCTCAGCCTTGGTTCCTGATGGGAACAGAATGGAGGGCCTGAGAACATACTTTCTAAATGCCTTTGACCCAGGAACCGATTATCTATATTTGTTCCCATTTTCCTTCACCGTGACATTCCAGCATTGTCTGACTGTGAGGTGGGCCTTTGAGAGCCTCCAGGTTCCTCAAAACAGGCCTGAGCGATGGGCATCACACCCTCTGCCTACCCACGTGCCTGCTTACCTGCCAGATAACCAAGTGAGATGTCTGCGAGTGGCTAGTTTTCACATTCTTACTAGTGTTTGGCTCACCTTTGGGCAAAGGCCCCCTCTAGGCCTTGCCCCACCTCCATCAAACGCAGACACTGTAGTCAGACCTCAGCAATATAGGAGGCAATAATCTTTTAACAGTGTTTTGCAAACAAACAAAAAGAGAAAAATCCCAGCCAGGGGAACTCGCCACCTGCCCACGCTAGTTCCATCCACGCTCAAGACCCGCCCTTAGACCAGGCAGGCAAAGGCCCCCATCACACTCGGCCACTAGTGGGGTCCTGAGGCCAAGAAAGAAACCAGACCCTGTATGACAAGTGGGGTCTTTCAGAACACGACAGAAACAGGGGGGCCCTTGTAATGCCACTCATACTCAGAGCATTATTCTTATTTGGACAGCCAAGGGCAGATCACAGGTTATTGTAGGAATAAAGACTAGTTTACAAAGGAGAAAGAGGCCCTGGACTTCCCAAGGAAAGGGTCAGGTTAGGGCTCCTGTACCCATTCTGTTCCACCACTGTTTGATCTCTCTGGCCTCCCACCAGGAATGCCGTTTCCTTTTTATGGATCTGTTGGGAACCAGAGAGAATCAACAGATCAATGACATAGGATCCGAAGTGCAATGATAGTCACTTCTAGTTTGGCATTTCACAAACTCTGTACAGCAAGGTATTGGTAGGTTACTCAATTTCAAAAGGGCCCCATGGCCAAATATGTTTAGGAACCGCTGTTTGTATTTCTTTTTTTGGAGACGCATTGTATATAATATATGTCAAAGGCTTTCGGAATTCCTGCAGGAAAGAAATCAGCTTTGTTAAATCCAAACTGATGATTTGACTCAATAAGTTAGTTGCAGAGCTGGAAAAAGTAGTCTAACTCCCTTCCCAGTGCTCTTTCCCCTATACCAGTCTGCCTCTCATGCTTAGACAGCGTTCAGCGGTGATCCAAATCACCAAGCACCTGGTGCTGGAAACATTGTAGGTGCCAGAAGCAGCCTCCTGGTCCCAAAGAGAGCCCAAGATATTAGAACATAGCCATGTTAGCCCCTTGCCTCCCACTTCGCAACATGAGACATGTCTTCCTTTTGCTGTCCACAGGGAAGGGAGAGAGGGAGGTAAAAATGGAAGTGGCTTTGGCCTGGAGCAGCTTCTAGTTATGCCCAAGCAATGTAGATTGTTTGGTAATCAGCCAAGATCCATCCAGGTTCCCAGGAGCATAAAAGCAATCATCTCCTTTTTGGTCCTTCAAAACCAAACTGGAGTGGTGACGTCAGGGCCAGAGACCCTCTCCTTCTGTGGGCATTGGATCACTTAGAACTCTCAACCTCAGAAAAGCCTGCCTTCAAGCTGGCTTTTGACGGGCTATTGGCTGGAGACTGGGTCAGTATTGAAAGTGCTAGCTGTGCACCTGGCTGCCAGAAAGCCACTTGGCCTTTAGGACAGTCCTCTTCACATTGCCCTCTTCCCTCACTCATGATCAGGTCTGGATTTAAGAGCAAGAGACCCCAGGATAATTCAGAAGTCCTCTCTCTCCTCCTGTTCAAGACTCTTGGTCTGGGATTCAATAATAAGTAGCAGACCTGACATAAGAAAGATCAGATAGGTCCAATTGCCAGTGACTATTGGGAGCCATAATTTGGCAGCTGGAGACTGGTAGGCTCAGGCCTGATTAACACTGGCTAGGATCAGCAGCAAATAAAATAGCCATTGTGTGAGGTGAGAGGTGAAGAGGTGAAGGCCTGGTACTCTTTCTAGCGCCCAAAAAGCCCACCACCCTTACTCTGTCTCCATGCTCGGCTGAGTTCCATGTTATAGGACAGTCCCTGCATGTCTGGCATGTCTGGAGCTCACTCTGCCCAGTAACACATCTCCCTTCTTTTTGCTCAGCCTGTGCAATGCAACAGAACTAGTCTGGCCAGGAGCTGGCAGAATCCTATCCAGAGGCAGCTGAGATGATGCAGTGGGCAGTCAGACACATGAAGCTGCTGCTTTGCAGGCATCATTGTCGACACATTCTTCTAGACCCCCAAGGTGGGTGGAGGTGGGGGTCCTGGGGTCAATATCCCACAGTCATGCTTGGGGGAGGTCAGGTGATGGCAAGGAATAGATCAGACCATTTATAATCCGGTAGAACTTTGCTTCATCCTCCTGCTGCTGCTCACTTAATTCTTTCACCACTCCCTTGGAATTTCTGAAGAAAGCCAAGTGGGGCATAGGGAAAAGAGACGGGAGGTGAAATTCAAAATATCAGATGTGGGTACCTTTTAAAGTTATTCTGTTAAAAGAAATCTAACAGAAGAGAGTATAAATATTGATTAACATAAGGTTTGATGATTAGCCAGTGATTCTAGGAGTCCCCTTACACACACACACACACACACACACACACACACGCCTGGACAATAACTTGGAATTGACAAATGCACATCCTAAAATCCTGTCACCTCGCTATGAGTTCATAGTTCTCTGATAACCGGCTTCAAGAGGAGAATGGCTTCCCCACTTGCCCCCAAGAAGATAGGGATCACTAGTATAAGTCACACGATGAAAGAACCAGAATACCAGCCTCTCAGACTGGAAGGTTCCTGGGCCCTTCCCCCTTCTTTCCTGACAAGGGCAGGTGAGGTTCCCCCATTAGAAGGATCTGGGGCACTGCTTATAAGAGCAGCCTGTTACAAGATTCAAGCACAGAGAGCTATAGGAGTTGAAGTTTGGTTTCTTCCACTTAAAAAAATATATATCCACCCTCCTTACTCAGGGGTAGACCTTTCAAATATTAATAAATAATGCTGTGTGACATCCTGAATAAACGGGTAAGAGAAAACTTGTAGGGCAGGGTGTAACCATGAGGTCCTCAAGTTTCAGGAGATTAAGAACACAGGAAACCCCTGTGGCAATCGTCCCTCTTCAACAATCTCACCCAGTTTTCACTTAGTAATAAAAGACAGCTCAAAACATACAACTGAATGGTAATAGGCTGGACAAAGTTTCTCAACCTGTGGGCCACGGCCATGGGCAGAGCTAGTTACAAAGGCAGATGAAGCTTCATGTCGGACTAAAGGAGTCCGAATTTCTGGTCACAGGACCCAGAACCTGCATCTTTGTCAATCTCCCCACTTTGAATGCACTTTGATGTGAGACCAGCAAACCTGAGCTGGGCTCTGTGGGAAAGCCACTGCATGAGAAACAGTACTGCTACGGGTGTGCTGCAGTCTCCAACGCAGCTACGAACCCACTCCTTTAGTGAGTGAAACTAGTGGCCCCGTGAACAATGACCACATGGCCTAAATTCTCCCATATTCCTATATTCTGTCCTTTGGCCTCAGACACACCTCAGCATCCAAAGGATATCTCCCAGATACTCCAGTATCTGTGTACAACAGCCGCAGAACCTCCTTCCAAGCTCCAAATCAGGCCAGGCATCCTGATTTTTATAACCATACTCATATATCCAGATCCATGACATAACACTAGTTTATAGCCAACACATTTAAATAATTTCCCCACTGGGGCCAGGCGCAGTGGCTCACATCAGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATGACTAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAATAATAATAATAATAATAATAATACTTTCCCCATTGGTCTGTGTATGAACATAGGAACCAAGGACACATAGGTCTCATGGCGACCCTAAAATAGTCTGTTCTGTCACATAGACTAGTACCTGTTCCTTCCAAACATGTAACCTTTAATAATTGTGACATTTTGAAATGGGAAAGGGCAAAAAGGAGGGAGAGGGGAGTCATGCTGTATAGACTCTAAAATGTTATGTTTGTTGTTTTTCTTGCTTTGTTTCACAACTTTGAGCCAGAGAGAGGCTAGCATTTTCCCTCCAAGCTGACTCGGGGAAGCTGAAACACAACAAAGACCTATTTGATTTGTTCACAATGAACAGGGATTTAAAAACGCAGCCTTAGCGGACAGCTCTACCAGCCACAGAAAAGTTCTTCCAGATCTTCCTCCCGTCAGCGCGATAAAATGGTACCGTACTTTGGTTAAATGTAAAATCAGCTTTCCAGGAACAGTGGCATATCCTTTCTCTTCCATCAGTTCCCTAGATTCTCTTCATTACTACATTCTCTAGCCTAACATTCCGTCCCTGCTGAATTAACTAATATTCAGATACATTCAAGATAGAACTAACACTCAATTCTATCTTTCCAAAATTTAAGGGGATGATAGGTCTTCACTCACATGGTAACAAACACAGCAGCAAACCCCATAAAACTGAACATCAACTGCCTTCTGGAAGTTCTCATCTGGCAAGCTAGTGCAGGTATCTTGTGCATGGGTCAAGAGAGTGAAGCTCAGAGCACATTGCTTGGCACCCAGCAGGTGTTCAGGACATGTTTTAGCTCAGCCCTCCTAGAAAACTATGAAATAAAATCCAAACAAAAGTATTAAGATTGAAGTAAAAAGATGTTTTTCTAAGAGTATCAATATATGGAAGTCACTTGCCCAGGAACAGAATCAAACAAACCAAAACCCAGTAAAATGAGATAGAGAAAAGAAGCGGAAGAAGATCAATGGCAGGTTTTCAACCTCAAAAAGACCTCTTCCAAACTGAATCTGAAGAGGAATGGGAGGAGGCAGAATGAGAACATGAGACCTCTCCTTGGGGCCCCTTTCATGCGCGTCTGTGTGAAGAGACCACTAAACAGGCTTTGTGTGAGCAACATGGCTGTTTATTTCACCTGGGTGCAGGCCGGATGAGTCCGAAAAGAGAGTCAGCAAAGGGAGTAGGGATGGGGCCGTTTTATAGGATTTGGGAAGGTAATGGAAAATTACATGCAAAGGGGGTTGTTCTCTGGTGGGCAGGGGCGGGGGTCACAAGGTGCTCAGTGCGGGAGCTTCTGAGCCAGAAGAAGGAAATTTACAGGGTTAATCACTCAGTTAAGGTGGGGCAGGAACAAATCACAATGGTGGAATGTCATCAGTTAAGGCGGGGCAGGGCCTTTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCATCTGGGCGTATACGCGCAAGTCACAGGGGATGCGATGGCTTGGCTTGGGCTCAGAGGCCTGACATTCCTGCCTTCTTATATTAATAAGAAAAATAAAACAAAATAGTGTTGAAGTGTTGGGGCGACGAAAATTTTTGGGGGGTGGTATGGAGAGAGAATGGGCGATGTTTCTCAGGGCTGCTTCGAGTGGGATTAGGGGCGGCGTGGGAACCTAGAGTGGGAGAGATTAAGCTGAAGGGAGGTCTCGTGGTAAGGGGTGATATTGTGGGGATGTTAGAAGAAACATTTGTTGTGTAGAATGATTGGTGACGGCCT)$ . 05CO047 ENSG00000102054.18 ENSG00000236683.3(31088),ENSG00000252491.1(9964) -/- ./+ chrX:16852476 chrX:26780178 intron intergenic inversion 1 19 0 26 37 medium out-of-frame . Histone-binding_protein_RBBP4_or_subunit_C_of_CAF1_complex(100%),WD_domain__G-beta_repeat(100%)| . . ENSG00000102054.18 . ENST00000380087.7 . upstream upstream duplicates(1),mismatches(2) ^(ACTTTTCCCAGGGCGGATGCGCCTGCGCTCAGCTGCCTGGGCGGGCTGGGAGGCGCGGGTTGAAAAGTCTCGTTCCAAGTTTGGAGAGAGAGAGAAGAGCGCCTCAGACCTCGGTACCCGCGAGCGGGGAGGAGGCAGGAAAGAAGGACGCGGCGTCTGGGGAGCACCCAGGCAGCAAGACGGGGCCCGGGCTTTCGACAGTGGGGAGTGTGACGCGCTTGGGAAAGGCAGGAGCGCCAGCGGTCGGGCTGCTCTTGGCTAACGAGAGGAGTCCGAGGCGGCGGCGAGGGGCGAACGACCCGACGCAAGATGGCGAGTAAAGAGA___TGTTTGAAGATACTGTGGAGGAGCGTGTCATCAATGAAGAATATAAAATCTGGAAGAAGAATACACCGTTTCTATATGACCTGGTTATGACCCATGCTCTTCAGTGGCCCAGTCTTACCGTTCAGTGGCTTCCTGAAGTGACTAA___ACCTGAAGGAAAAGATTATGCCCTTCATTGGCTAGTGCTGGGGACTCATACGTCTGATGAGCAGAATCATCTGGTGGTTGCTCGAGTACATATTCCCAATGATGATGCACAGTTTGATGCTTCCCATTGTGACAGTGACAAGGGTG___AATTTGGTGGCTTTGGTTCTGTAACAGGAAAAATTGAATGTGAAATTAAAATCAATCACGAAGGAGAAGTAAACCGTGCTCGTTACATGCCGCAGAATCCTCACATCATTGCTACAAAAACACCATCTTCTGATGTGTTGGTTTTTGACTATACAAAACACCCTGCTAAACCAG___ACCCAAGTGGAGAATGTAATCCTGATCTCAGATTAAGAGGTCACCAGAAGGAAGGCTATGGTCTCTCCTGGAATTCAAATTTGAGTGGACATCTCCTAAGTGCATCTGATGACCAT___ACTGTTTGTCTGTGGGATATAAACGCAGGACCAAAAGAAGGCAAAATTGTGGATGCTAAAGCCATCTTTACTGGCCACTCAGCTGTTGTAGAGGATGTGGCCTGGCACCTGCTGCACGAGTCATTGTTTGGATCTGTTGCTGATGATCAGAAACTTATGAT___ATGGGACACCAGGTCCAATACCACCTCCAAGCCGAGTCACTTGGTGGATGCGCACACTGCCGAAGTCAACTGCCTCTCATTCAATCCCTACAGCGAATTTATTCTAGCCACCGGCTCTGCGGATAAG___)ACCGTAGCTTTATGGGATCTGCGTAACTTAAAATTAAAACTCCATACCTTCGAATCTCATAAAGATGAAATTTTCCAGGTATGTGACAGTTTTCTGGTGTCTGTATGTCAGGAAATGAAATCCAGGGATTCATCAGTTAAGCTATACCAGACT|TCTATTAGTGTAGTTCGTGCAgTTAACTCCTGTTTGATATTCATGAACATTTCAGCTCTTAATGAGTACTGTATGTTTTTCTCTATTCCAATGTTACAATCTTCAAAGCTATTAGAGACCTGCATTTGAGGACACCTGTTAAAGTCCCATAGTTTGATTATAAACCATCTTTTGAGAAGCAACAAAGCAAGACAACAATTGTCTGCAAATGACAAAATTTCCAGGGTAGTTACAGTTAAAAACATTACTGACAAAGAGATTTGGTTATTTCTGTGGTTTATAATAACTTTGACCTTAATTATGATTGATATTGTATACTTAGACATTAGAATTTTAG MASKEMFEDTVEERVINEEYKIWKKNTPFLYDLVMTHALQWPSLTVQWLPEVTKPEGKDYALHWLVLGTHTSDEQNHLVVARVHIPNDDAQFDASHCDSDKGEFGGFGSVTGKIECEIKINHEGEVNRARYMPQNPHIIATKTPSSDVLVFDYTKHPAKPDPSGECNPDLRLRGHQKEGYGLSWNSNLSGHLLSASDDHTVCLWDINAGPKEGKIVDAKAIFTGHSAVVEDVAWHLLHESLFGSVADDQKLMIWDTRSNTTSKPSHLVDAHTAEVNCLSFNPYSEFILATGSADKTVALWDLRNLKLKLHTFESHKDEIFQvcdsflvsvcqemksrdssvklyqt|sisvvravnsclifmnisalneycmffsipmlqssklletci* 05CO047 ENSG00000101871.15 ENSG00000199410.1(2864),ENSG00000169891.18(31477) -/- ./- chrX:10833554 chrX:16915181 5'UTR/splice-site intergenic duplication 0 3 0 37 12 medium . . . . . ENSG00000101871.15 . ENST00000380787.5 . upstream downstream . ^(ACTTGC)CCCAGCCCAGCCTGCTTGAAGGACCTACAGGTTTGTCTCTTCCAGATCAGAACTGAGGAACAAAAACCCCCATCCTGGGAAAAATGGGGAAGCTG|AATTGAGAAGGAATTATCAGAGAGGATGAAAGATAATCTGGAAAGCACAGTGTCATGAAAGTCTACAGAAGAATTTTGAGAAAGAAGTGATCAACATCATCAAATATTGTAGAGAG . 05CO047 ENSG00000184979.10 ENSG00000276095.2 +/+ -/+ chr22:18173842 chr22:18877059 CDS/splice-site intron deletion/5'-5' 0 2 0 95 12 medium out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000184979.10 ENSG00000276095.2 ENST00000215794.8 . downstream upstream mismatches(1) ^(AGTCCCGACGTGGAACTCAGCAGCGGAGGCTGGACGCTTGCATGGCGCTTGAG___AGATTCCATCGTGCCTGGCTCACATAAGCGCTTCCTGGAAGTGAAGTCGTGCTGTCCTGAACGCGGGCCAGGCAGCTGCGGCCTGGGGGTTTTGGAGTGATCACGAATGAGCAAGGCGTTTGGGCTCCTGAGGCAAATCTGTCAGTCCATCCTGGCTGAGTCCTCGCAGTCCCCGGCAGATCTTGAAGAAAAGAAGGAAGAAGACAGCAACATGAAGAGAGAGCAGCCCAGAGAGCGTCCCAGGGCCTGGGACTACCCTCATG___GCCTGGTTGGTTTACACAACATTGGACAGACCTGCTGCCTTAACTCCTTGATTCAGGTGTTCGTAATGAATGTGGACTTCACCAGGATATTGAAGAG___GATCACGGTGCCCAGGGGAGCTGACGAGCAGAGGAGAAGCGTCCCTTTCCAGATGCTTCTGCTGCTGGAGAAGATGCAGGACAGCCGGCAGAAAGCAGTGCGGCCCCTGGAGCTGGCCTACTGCCTGCAGAAGTGCAACGTGCCCT___TGTTTGTCCAACATGATGCTGCCCAACTGTACCTCAAACTCTGGAACCTGATTAAGGACCAGATCACTGATGTGCACTTG___GTGGAGAGACTGCAGGCCCTGTATACGATCCGGGTGAAGGACTCCTTGATTTGCGTTGACTGTGCCATGGAGAGTAGCAGAAACAGCAGCATGCTCACCCTCCCACTTTCTCTTTTTGATGTGGACTCAAAGCCCCTGAAGACACTG___GAGGACGCCCTGCACTGCTTCTTCCAGCCCAGGGAGTTATCAAGCAAAAGCAAGTGCTTCTGTGAGAACTGTGGGAAGAAGACCCGTGGGAAACAG___GTCTTGAAGCTGACCCATTTGCCCCAGACCCTGACAATCCACCTCATGCGATTCTCCATCAGGAATTCACAGACGAGAAAGATCTGCCACTCCCTGTACTTCCCCCAGAGCTTGGATTTCAGCCAGATCCTTCCAATGAAGCGAGAGTCTTGTGATGCTGAGGAGCAG___TCTGGAGGGCAGTATGAGCTTTTTGCTGTGATTGCGCACGTGGGAA)TGGCAGACTCCGGTCATTACTGTGTCTACATCCGGAgTGCTGTGGATGGAAAATGGTTCTGCTTCAATGcCTCCAATATTTGCTTG___GTGTCCTGGGAAGACATCCAGTGTACCTACGGAAATCCTAACTACCACTG|GCCTCCTTTTCTTTGTCATGCATGCATATTAATTGAGGATGGAGAATATCTACGCTTGTTCAGGCCAGCCAACATACGACAGTTTACTTCAAGAGAGGAGACACGGGTTGAATGCTGGTGTGTTTTAACTCTGCAG MSKAFGLLRQICQSILAESSQSPADLEEKKEEDSNMKREQPRERPRAWDYPHGLVGLHNIGQTCCLNSLIQVFVMNVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRPLELAYCLQKCNVPLFVQHDAAQLYLKLWNLIKDQITDVHLVERLQALYTIRVKDSLICVDCAMESSRNSSMLTLPLSLFDVDSKPLKTLEDALHCFFQPRELSSKSKCFCENCGKKTRGKQVLKLTHLPQTLTIHLMRFSIRNSQTRKICHSLYFPQSLDFSQILPMKRESCDAEEQSGGQYELFAVIAHVGMADSGHYCVYIRsAVDGKWFCFNaSNICLVSWEDIQCTYGNPNYHw|ppflchaciliedgeylrlfrpanirqftsreetrvecwcvltl 05CO047 ENSG00000133858.17 ENSG00000137700.18 -/- -/- chr12:71617859 chr11:119030858 intron 5'UTR translocation 1 0 1 1 3 medium . . Putative_zinc-finger_domain(100%)|Major_Facilitator_Superfamily(100%) . . ENSG00000133858.17 ENSG00000137700.18 . ENST00000330775.9 upstream downstream . ATTTTTTTATATTTTAGTAATGACAGGTTTCACCGTGTTACCCAGGATGGTCTCGAACTCCTGcGCTCAGGCAATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGTCCACCCTAGAACTTGTT...TTATTGCCATAGCGATTTTAG|CTCTGTTCAG___GACACTGGGTCCCCTTGGAGCCTCCCCAGGCTTAATGATTGTCCAGAAGGCGGCTATAAAGGGAGCCTGGGAGGCTGGGTGGAGGAGGGAGCAGAAAAAACCCAACTCAGCAGATCTG(GGAACTGTGAGAGCGGCAAGCAGGAACTGTGGTCAGAGGCTGTGCGTCTTGGCTGGTAGGGCCTGCTCTTTTCTACCATGGCAGCCCAGGGCTATGGCTATTATCGCACTGTGATCTTCTCAGCCATGTTTGGGGGCTACAGCCTGTATTACTTCAATCGCAAGACCTTCTCCTTTGTCATGCCATCATTGGTGGAAGAGATCCCTTTGGACAAGGATGATTTGG___GGTTCATCACCAGCAGCCAGTCGGCAGCTTATGCTATCAGCAAGTTTGTCAGTGGGGTGCTGTCTGACCAGATGAGTGCTCGCTGGCTCTTCTCTTCTGGGCTGCTCCTGGTTGGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTACCTGTCTTTGCTGCCCTCTGGTTCCTTAATGGCCTGGCCCAGGGGCTGGGCTGGCCCCCATGTGGGAAGGTCCTGCGGAAG___TGGTTTGAGCCATCTCAGTTTGGCACTTGGTGGGCCATCCTGTCAACCAGCATGAACCTGGCTGGAGGGCTGGGCCCTATCCTGGCAACCATCCTTGCCCAGAGCTACAGCTGGCGCAGCACGCTGGCCCTATCTGGGGCACTGTGG___GTGGTTGTCTCCTTCCTCTGTCTCCTGCTCATCCACAATGAACCTGCTGATGTTGGACTCCGCAACCTGGACCCCATGCCCTCTGAGGGCAAGAAGG___GCTCCTTGAAGGAGGAGAGCACCCTGCAGGAGCTGCTGCTGTCCCCTTACCTGTGGGTGCTCTCCACTGGTTACCTTGTGGTGTTTGGAGTAAAGACCTGCTGTACTGACTGGGGCCAGTTCTTCCTTATCCAGGAGAAAGGACAGTCAGCCCTTGTAG___GTAGCTCCTACATGAGTGCCCTGGAAGTTGGGGGCCTTGTAGGCAGCATCGCAGCTGGCTACCTGTCAGACCGGGCCATGGCAAAG___GCGGGACTGTCCAACTACGGGAACCCTCGCCATGGCCTGTTGCTGTTCATGATGGCTGGCATGACAGTGTCCATGTACCTCTTCCGGGTAACAGTGACCAGTGACTCCCCCAAG___CTCTGGATCCTGGTATTGGGAGCTGTATTTGGTTTCTCCTCGTATGGCCCCATTGCCCTGTTTGGAGTCATAGCCAACGAGAGTGCCCCTCCCAACTTGTGTGGCACCTCCCACGCCATTGTGGGACTCATGGCCAATG___TGGGCGGCTTTCTGGCTGGGCTGCCCTTCAGCACCATTGCCAAGCACTACAGTTGGAGCACAGCCTTCTGGGTGGCTGAAGTGATTTGTGCGGCCAGCACGGCTGCCTTCTTCCTCCTACGAAACATCCGCACCAAGATGGGCCGAGTGTCCAAGAAGGCTGAGTGAAGAGAGTCCAGGTTCCGGAGCACCATCCCACGGTGGCCTTCCCCCTGCACGCTCTGCGGGGAGAAAAGGAGGGGCCTGCCTGGCTAGCCCTGAACCTTTCACTTTCCATTTCTGCGCCTTTTCTGTCACCCGGGTGGCGCTGGAAGTTATCAGTGGCTAGTGAGGTCCCAGCTCCCTGATCCTATGCTCTATTTAAAAGATAACCTTTGGCCTTAGACTCCGTTAGCTCCTATTTCCTGCCTTCAGACAAACAGGAAACTTCTGCAGTCAGGAAGGCTCCTGTACCCTTCTTCTTTTCCTAGGCCCTGTCCTGCCCGCATCCTACCCCATCCCCACCTGAAGTGAGGCTATCCCTGCAGCTGCAGGGCACTAATGACCCTTGACTTCTGCTGGGTCCTAAGTCCTCTCAGCAGTGGGTGACTGCTGTTGCCAATACCTCAGACTCCAGGGAAAGAGAGGAGGCCATCATTCTCACTGTACCACTAGGCGCAGTTGGATATAGGTGGGAAGAAAAGGTGACTTGTTATAGAAGATTAAAACTAGATTTGATACTGAACAC)$ . 05CO047 ENSG00000139687.15 ENSG00000123358.20 +/+ +/+ chr13:48379652 chr12:52052395 intron intron translocation 0 2 0 72 8 medium out-of-frame . Domain_of_unknown_function_(DUF3452)(100%),Retinoblastoma-associated_protein_A_domain(100%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) . . ENSG00000139687.15 ENSG00000123358.20 ENST00000267163.5 ENST00000243050.5 downstream upstream . ^(TTTCCCGCGGTTGGACGCGGCGCTCAGTTGCCGGGCGGGGGAGGGCGCGTCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCTCCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTCGTCAG___GCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTATGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCTTGGTTAACTTGGGAGAAAGTTTCATCTGTGGATGGAGTATTG___GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAG___TGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAG___GACATGTGAACTTATATATTTGACACAACCCAGCAGTTC___GATATCTACTGAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAG___GGGAAGTATTACAAATGGAAGATGATCTGGTGATTTCATTTCAGTTAATGCTATGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATA___AAACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAG___GTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACATCTAATGGACTTCCAGAG___GTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGACTGATTCTATAGACAG___TTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAG___GACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTGATTTCCTATTTTAAC___AACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGT)GTCGAAATTGGATCACAG___CGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAG|a|TTGGGGCGGTGCTGCCTAGAGGATACCTCCCAACCATTCCAGCTCCAGATGCTGATCATCCCTATGCCCCCTCCCCCAGTAGTCTCTGTTGGATCTTACAGGTAGGGTGCAGCCTGAGGCTTGTTCAGCAGAACAGGTGCAAGCCACATTGTTGCCAAGACCTGCCTGAAGCCGGATTCTCCCCACT(GCCTCCTTCAACCCCGCCTCTTCCTCCTCCTGTGGGACTGCTCCCCCCTCCTGTGAGGCTAGAT___AGATGCCCTGTATCCAAGCCCAATATGGGACACCAGCACCGAGTCCGGGACCCCGTGACCACCTGGCAAGCGACCCCCTGACCCCTGAGTTCATCAAGCCCACCATGGACCTGGCCAGCCCCGAGGCAGCCCCCGCTGCCCCCACTGCCCTGCCCAGCTTCAGCACCTTCATGGACGGCTACACAGGAGAGTTTGACACCTTCCTCTACCAGCTGCCAGGAACAGTCCAGCCATGCTCCTCAGCCTCCTCCTCGGCCTCCTCCACATCCTCGTCCTCAGCCACCTCCCCTGCCTCTGCCTCCTTCAAGTTCGAGGACTTCCAGGTGTACGGCTGCTACCCCGGCCCCCTGAGCGGCCCAGTGGATGAGGCCCTGTCCTCCAGTGGCTCTGACTACTATGGCAGCCCCTGCTCGGCCCCGTCGCCCTCCACGCCCAGCTTCCAGCCGCCCCAGCTCTCTCCCTGGGATGGCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTACGAAGGCCTGCGGGCATGGACAGAGCAGCTGCCCAAAGCCTCTGGGCCCCCACAGCCTCCAGCCTTCTTTTCCTTCAGTCCTCCCACCGGCCCCAGCCCCAGCCTGGCCCAGAGCCCCCTGAAGTTGTTCCCCTCACAGGCCACCCACCAGCTGGGGGAGGGAGAGAGCTATTCCATGCCTACGGCCTTCCCAGGTTTGGCACCCACTTCTCCACACCTTGAGGGCTCGGGGATACTGGATACACCCGTGACCTCAACCAAGGCCCGGAGCGGGGCCCCAGGTGGAAGTGAAGGCCGCTGTGCTGTGTGTGGGGACAACGCTTCATGCCAGCATTATGGTGTCCGCACATGTGAGGGCTGCAAGGGCTTCTTCAAG___CGCACAGTGCAGAAAAACGCCAAGTACATCTGCCTGGCTAACAAGGACTGCCCTGTGGACAAGAGGCGGCGAAACCGCTGCCAGTTCTGCCGCTTCCAGAAGTGCCTGGCGGTGGGCATGGTGAAGGAAG___TTGTCCGAACAGACAGCCTGAAGGGGCGGCGGGGCCGGCTACCTTCAAAACCCAAGCAGCCCCCAGATGCCTCCCCTGCCAATCTCCTCACTTCCCTGGTCCGTGCACACCTGGACTCAGGGCCCAGCACTGCCAAACTGGACTACTCCAAG___TTCCAGGAGCTGGTGCTGCCCCACTTTGGGAAGGAAGATGCTGGGGATGTACAGCAGTTCTACGACCTGCTCTCCGGTTCTCTGGAGGTCATCCGCAAGTGGGCGGAGAAGATCCCTGGCTTTGCTGAGCTGTCACCGGCTGACCAGGACCTGTTGCTGGAGTCGGCCTTCCTGGAGCTCTTCATCCTCCGCCTGGCGTACAG___GTCTAAGCCAGGCGAGGGCAAGCTCATCTTCTGCTCAGGCCTGGTGCTACACCGGCTGCAGTGTGCCCGTGGCTTCGGGGACTGGATTGACAGTATCCTGGCCTTCTCAAGGTCCCTGCACAGCTTGCTTGTCGATGTCCCTGCCTTCGCCTGCCTCTCTGCCCTTGTCCTCATCACCG___ACCGGCATGGGCTGCAGGAGCCGCGGCGGGTGGAGGAGCTGCAGAACCGCATCGCCAGCTGCCTGAAGGAGCACGTGGCAGCTGTGGCGGGCGAGCCCCAGCCAGCCAGCTGCCTGTCACGTCTGTTGGGCAAACTGCCCGAGCTGCGGACCCTGTGCACCCAGGGCCTGCAGCGCATCTTCTACCTCAAGCTGGAGGACTTGGTGCCCCCTCCACCCATCATTGACAAGATCTTCATGGACACGCTGCCCTTCTGACCCCTGCCTGGGAACACGTGTGCACATGCGCACTCTCATATGCCACCCCATGTGCCTTTAGTCCACGGACCCCCAGAGCACCCCCAAGCCTGGGCTTGAGCTGCAGAATGACTCCACCTTCTCACCTGCTCCAGGAGGTTTGCAGGGAGCTCAAGCCCTTGGGGAGGGGGATGCCTTCATGGGGGTGACCCCACGATTTGTCTTATCCCCCCCAGCCTGGCCCCGGCCTTTATGTTTTTTGTAAGATAAACCGTTTTTAACACATAGCGCCGTGCTGTAAATAAGCCCAGTGCTGCTGTAAATACAGGAAGAAAGAGCTTGAGGTGGGAGCGGGGCTGGGAGGAAGGGATGGGCCCCGCCTTCCTGGGCAGCCTTTCCAGCCTCCTGCTGGCTCTCTCTTCCTACCCTCCTTCCACATGTACATAAACTGTCACTCTAGGAAGAAGACAAATGACAGATTCTGACATTTATATTTGTGTATTTTCCTGGATTTATAGTATGTGACTTTTCTGATTAATATATTTAATATATTGAATAAAAAATAGACATGTAGTTGGAACTG)$ MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKS|d|wggaa* 05CO048 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 11 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) GGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAtGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO048 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 4 0 235 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),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATG)AGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO048 ENSG00000256004.1(2148),ENSG00000166532.16(16104) ENSG00000166532.16 ./+ +/+ chr12:8681818 chr12:8713811 intergenic 5'UTR/splice-site deletion/read-through 9 5 0 20 28 high . . |RimK-like_ATP-grasp_domain(100%) . . . ENSG00000166532.16 . ENST00000357529.7 downstream upstream . GATTCGTGGGCTGCTTCCACCTGCTAGGAGGGTGGTGTACTCTAACTCAGGGACAGAAGCCCCTGTCTGTGCTCAGGACTCTTGCAGACCTCTTTACCTGGCTGTTCATCTTCCATAATCAACTG|GTAGACGTTACATCCAAGAGGAAATAATCCAGGCAAGGAAGCACAAGCTGATCAAGATGTGTAGTTCTGTGGCTGCCAAGTTGTGGTTTTTGACAGATCGTCGCATCAGGGAAGACTATCCTCAAAAAGAGATTTTACGAGCATTGAAGGCCAAATGTTGTGAGGAGGAACTGGACTTTAGGGCTGTGGTGATGGATGAGGTGGTG(CTGACAATCGAGCAAGGAAACCTGG___GTCTGCGGATCAATGGAGAGCTAATCACTGCCTACCCACAAGTGGTGGTAGTCAGAGTACCAACCCCTTGGGTGCAAAGTGATAGTGACATCACTGTTTTGCGCCATCTAGAGAAGATGGGATGTCGGTTAATGAACCGACCTCAAGCCATCCTGAACTGCGTTAATAAGTTCTGGACATTTCAAGAGTTGGCTGGCCATGGTGTTCCTCTGCCGGATACTTTCTCTTATG___GTGGCCACGAAAATTTTGCTAAAATGATTGATGAGGCTGAAGTTCTGGAGTTCCCAATGGTAGTAAAGAATACGCGGGGTCACAGAG___GTAAAGCTGTTTTCTTGGCTCGAGATAAGCACCATTTGGCTGATCTAAGCCATCTTATTCGCCATGAAGCGCCATACCTGTTCCAGAAGTATGTTAAAGAGTCTCATGGACGGGATGTACGTGTCATTGTCGTGGGAGGCCGTGTGGTTGGCACCATGTTACGTTGTTCAACAGATGGGAGAATGCAAAGCAACTGCTCATTAG___GTGGTGTGGGGATGATGTGCTCATTGAGTGAACAAGGGAAGCAGCTAGCTATCCAGGTGTCTAATATCCTGGGGATGGATGTGTGTGGCATTGATCTGCTGATGAAAGATGACGGCTCCTTCTGCGTCTGTGAGGCCAATGCAAATGTAGGTTTCATCGCCTTTGATAAGGCTTGTAATCTAGATGTAGCTGGTATCATAGCAGACTATGCCGCCTCCCTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCTGCTCTCCGTGGTGTCCACTGCCAGTGAGACTAGTGAGCCGGAGCTGGGTCCCCCAGCCAGCACTGCTGTTGACAACATGAGTGCAAGTTCCAGCTCTGTTGACAGCGACCCTGAAAGCACGGAGCGAGAGCTGCTCACCAAGCTCCCAGGGGGCCTGTTCAACATGAACCAGCTGCTAGCCAATGAAATCAAACTACTGGTGGACTGACTCCACTGGTAATTAACCAACAAAACCCTTGTAAAACTTTCTTTCTTCTTTTCTATTTTTAAAACCAACTTGCAATGCTGTTCATGGAGGATGCTCAGGAAGATGAGAGAAAATTAGTAGGATTAGTTGGAGAGAGTGGGAGATAGATGAGACCTCTGCTAGTAAGATGTTACTTTCATTTACAAATCCTACAAATAGAGAGGCAGAATAGGTGGGGTATAGAAAAATGTCAGGCTCTCATAGTTACCCTTTTAAATTGCTAAAAAATGTGTATGCTCATAGGCCATGAGGAACAAATACTTTTTTTTTTTCATGGTCCCTTGCTTTTGTTTTTGTACAAAAAAAAATGGTTTTGCTACAAATATCCAAGTAGCATAACTTCACATTGTGTTGGAAGATTTGTCATCAGTGAGGAAAACATCTGCATAAATTACAGGAATTTTTGTATTATACAGCTCTGAAAATTCTGCCATTTCCTTATTAACTAGCAGCTTTAGTTTGTAGTTTATGAAATCTTGAGGGGCTCTTTTACTGGGATTTCTTATTTTTTTGTTTTTTCCCGCTTAATTTGGTGGGAGGTCAAATTGAATATAACCCAATAAAGGCTTCTTAATGACAAAATTGGCATGTTTGCATGATGAAATGGAAATGAACAGTATTGCAATGTCCGGTATACAAAATAACATTAATTCAATGTAGATAAAATTACACTAGTTTAAAATATGTGCATTCACTTGTATTTGTTAGTGTTTTAGTCTTTTTTGAAAGATGTGCTCTGTTAATGTTGCTTTTTTTTTTTTTTTTAATACATGCTAGTCTAACATTTCCTGCTCTATGCCTGCATCTTTAACAATGGCCAAAGTGAAGAAAATGCTACCTTTTTTGTTAACAAGACACTGACTTGAAACATGTACATTTAAAGCCTTTTATTTTTTCCCTTTTTGTTTTGGTAGTTGGGCATTTAAATAAGGACAAGGAAAAATATTTTTGGGGGCAAATCAAGAGCCTATGAGTTCTAAGTATAAAGCTGAAGTGATTTCGAATGCCAGCGTTATATATTTGCATTTTTCACATTTTACGAGGGAGTATATGTGTATGTGTGTGCACGCATGCATGTGTATGTGTTTTGCTTTTTGTTTCCATCAACTAATCAAAAAGGATAATTTAGAAAATGGAGCATGATGGGAAACAGAGTTTTTGACTTTAAAAAACAGATGAGTTGTTTTCATAAGTAGACTCCACTGGGGTAGAGGTATTCACCTTAAAACATAGGGTGAGTAGATGCTTTTTTAGGCCTTTTTGTGTATATGTACGTTGTTTGTTTTTTTCCTTTTGTTTCTAGCCTGTTCAGTGTACAGTTTATTCAAGGCTACATGCTTTTCTTTAATGCTTCTGGCTATGCATTTTCTCTTTTTACATATAGGATTTGGGATTGGGGGTGGGTTGGATGTTTTTGTTTGGGGACTTATTTAGTAGTATTGAGTCTCTTATAGCCCTACTCTTAAGCCTTCAATACTGTCCACTCTTTATATTCCTTTACTTGCAGAATTTATAAAAGCCCCCAAACTGCATATAATATGAGCCTTTAAAACATGGGTAAAACTAATCCCATTGATGGGTTTGGATGGTATGTTAAGAAATGGAGATGCTGCAGAGCCCAACGTAATTTTTTAAACAGCAAGTTTTCCATCTCCCTACGAATCCTCTGAAGCTTTTACCCAAGCCCTTTCTTGCCTCTCCAGTGCTATTTTCCTTCAGATGGACCTTAAACATAATTTCTTGGACACTACTAGAGAGACTTCGAGGCAATAATAAAAGATCAGTATTAACCAGCTATAACAGAGGTTTGATCATGCTTACTTGTACAGTTTTTCCCCCGTTTTAAAAAGGAATGTAATAAAATTTGTTTTTTCCATAGAATTAAATAATATTAAAATTGAGTGAAAGGTTGATTGTTGATGAATAGAATAGTACCTCTCATCTGTGCAGTGTCTCATTTCACCTCAGAGAAAAGGATACATAAGAGGAGTTTGTAATTTATCTTAGGATATTCTAATTGCATTTAAAAGAACTTATCTTGCGCAGGGTAAATGGGGGACTCACATACATATATTAATACCTCTGACTCATTAACAGAAAGAAATACTTGGTACTTCTTTCGCTGAATGACCATACTGTGGAGGATGCATACTATTTGGTATAGAGAAATAAATGAGGAAGAAAGAACTGCTTAATTAAATTATCATTCATATGTTCATATAGAGACCATCTGGTTGCCATGTGTATTATGACACATACACTTTGAATAGTTACATATCACAAGTATGTAGTTCATGTTTGTGTTGGTGGGGTAAGGCATCAGGAAAAATGTAGTTAGTCTTTTCTTAACTTATACCAAATTAACCAACTATATTATAGGAAATATGTGAAATTAGTTCATTAGCTTTATTCACTATTATGCATTCACATGATATTAAAACGTACACTCACATGTTAGAATGAAAAGAGCAGTAGTTATCTTAGATTTTAAAAACATGGATATCTTCTTGAATTCCTTCAAGATTGAGGTAGAGAATAAGAGCAAATCATTCTGGAAGTACCTTAAGGAAACAAACAGCAGCAGATATTTAGGTTAAACTTATTTTCATAATTGTTTAATAACTTTTGTATAATCTTCATTGCTATTATGAGAGAGAATGTATATATCAAATATGTGTAATGATAAAATCTGAATTGTAAAATTTTTGTATATTGTTAAAATTGTAATTCTAAATTGTATTTCAAAAATGATTATTTCTGATATTGTTTTTATGTCACCCATGATGAAAACTGGACTTTATATATCTAAACATACAAGTATGAACTATTCTATTTAAAATTTTTAATAGTTTTTTTCTTTTTTGGTGCCTATAATTGATTGGTCATTTCTGCTGGCTTTTCTCCAATGAACATTGAAATCTTCCTGTATATGTTACCAATAAGAAAACTACCCTGGAACAGTAGAAAAACCCAACAAGAGACTTGGCATTCATCAAGCACATTATCAGACTTTGAGAACATATTGAAGGCATTGACTTTGAAAATCATCTCTTTTTCTCAAGAAGAAAGCAATGGAGAAGCAAATTTGTTTCATTCAGTGAATCCCCAGTTTGGGGCTTGTGGGGCTTAGAGACATTGTGAAATCAAATCTTGTGTTATACTTTTCTCCTGGCTCACTTTTTTTGAGAAGGTTTATGGGCTATTTGGCTGGTGAGACACGATCCCCTCCTAAGAAAATGTAGGTGCTCAGACAGGTAACCACTGCTGCTACTGTTTTTATTTGTTTGTTTGTTCAATTTTATTTAAGATTTGTTTTTGTTGTACTAGGATTTTAAAAAATGTAATATATTGCAGGATTTATAACCAGG)$ . 05CO048 ENSG00000127914.17 ENSG00000105810.10 +/+ -/- chr7:91941147 chr7:92833690 CDS/splice-site 5'UTR/splice-site inversion 2 1 0 24 13 high out-of-frame . |Protein_kinase_domain(100%) . . ENSG00000127914.17 ENSG00000105810.10 ENST00000356239.8 ENST00000424848.3 downstream downstream . ^(GTGTTTACGTGGAGACGAAGATGGCGGCGGCGGCGGCGGTGACGGCGCTTCCCGTGCGGCTGAGGACGATCCGCCAGTGAGCGCGGAGACTGCTTCCACTTCGGGCGGGGGAGCGCCGGACCGAATCGGCTCTCTAGGCCGTGGAGCTTGCCGTCCCACCTCCGTCCAA)ATCGACCTTTCCTTTCTATCCCCAACCACCCCTCAACCCCTGTTTTCCCCTGCCTTCCTTGCAGAGGCCATGGAGGACGAGGAGAGACAGAAGAAGCTGGAGGCCGGCAAAGCCAAG|GTGCAATGATTCTGGACTGAGACGCGCTTGGGCAGAGGCTATGTAATCGTGTCTGTGTTGAGGACTTCGCTTCGAGGAGGGAAGAGGAGGGATCGGCTCGCTCCTCCGGCGGCGGCGGCGGCGGCGACTCTGCAGGCGGAGTTTCGCGGCGGCGGCACCAGGGTTACGCCAGCC(CCGCGGGGAGGTCTCTCCATCCAGCTTCTGCAGCGGCGAAAGCCCCAGCGCCCGAGCGCCTGAGCCGGCGGGGAGCAAGTAAAGCTAGACCGATCTCCGGGGAGCCCCGGAGTAGGCGAGCGGCGGCCGCCAGCTAGTTGAGCGCACCCCCCGCCCGCCCCAGCGGCGCCGCGGCGGGCGGCGTCCAGGCGGCATGGAGAAGGACGGCCTGTGCCGCGCTGACCAGCAGTACGAATGCGTGGCGGAGATCGGGGAGGGCGCCTATGGGAAGGTGTTCAAGGCCCGCGACTTGAAGAACGGAGGCCGTTTCGTGGCGTTGAAGCGCGTGCGGGTGCAGACCGGCGAGGAGGGCATGCCGCTCTCCACCATCCGCGAGGTGGCGGTGCTGAGGCACCTGGAGACCTTCGAGCACCCCAACGTGGTCAG___GTTGTTTGATGTGTGCACAGTGTCACGAACAGACAGAGAAACCAAACTAACTTTAGTGTTTGAACATGTCGATCAAGACTTGACCACTTACTTGGATAAAGTTCCAGAGCCTGGAGTGCCCACTGAAACCATAAAG___GATATGATGTTTCAGCTTCTCCGAGGTCTGGACTTTCTTCATTCACACCGAGTAGTGCATCGCGATCTAAAACCACAGAACATTCTGGTGACCAGCAGCGGACAAATAAAACTCGCTGACTTCGGCCTTGCCCGCATCTATAGTTTCCAGATGGCTCTAACCTCAGTG___GTCGTCACGCTGTGGTACAGAGCACCCGAAGTCTTGCTCCAGTCCAGCTACGCCACCCCCGTGGATCTCTGGAGTGTTGGCTGCATATTTGCAGAAATGTTTCGTAGAAA___GCCTCTTTTTCGTGGAAGTTCAGATGTTGATCAACTAGGAAAAATCTTGGA___CGTGATTGGACTCCCAGGAGAAGAAGACTGGCCTAGAGATGTTGCCCTTCCCAGGCAGGCTTTTCATTCAAAATCTGCCCAACCAATTGAGAAGTTTGTAACAGATATCGATGAACTAGGCAAAGACCTACTTCTG___AAGTGTTTGACATTTAACCCAGCCAAAAGAATATCTGCCTACAGTGCCCTGTCTCACCCATACTTCCAGGACCTGGAAAGGTGCAAAGAAAACCTGGATTCCCACCTGCCGCCCAGCCAGAACACCTCGGAGCTGAATACAGCCTGAGGCCTCAGCAGCCGCCTTAAGCTGATCCTGCGGAGAACACCCTTGGTGGCTTATGGGTCCCCCTCAGCAAGCCCTACAGAGCTGTGGAGGATTGCTATCTGGAGGCCTTCCAGCTGCTGTCTTCTGGACAGGCTCTGCTTCTCCAAGGAAACCGCCTAGTTTACTGTTTTGAAATCAATGCAAGAGTGATTGCAGCTTTATGTTCATTTGTTTGTTTGTTTGTCTGTTTGTTTCAAGAACCTGGAAAAATTCCAGAAGAAGAGAAGCTGCTGACCAATTGTGCTGCCATTTGATTTTTCTAACCTTGAATGCTGCCAGTGTGGAGTGGGTAATCCAGGCACAGCTGAGTTATGATGTAATCTCTCTGCAGCTGCCGGGCCTGATTTGGTACTTTTGAGTGTGTGTGTGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGAGAGATTCTGTGATCTTTTAAAGTGTTACTTTTTGTAAACGACAAGAATAATTCAATTTTAAAGACTCAAGGTGGTCAGTAAATAACAGGCATTTGTTCACTGAAGGTGATTCACCAAAATAGTCTTCTCAAATTAGAAAGTTAACCCCATGTCCTCAGCATTTCTTTTCTGGCCAAAAGCAGTAAATTTGCTAGCAGTAAAAGATGAAGTTTTATACACACAGCAAAAAGGAGAAAAAATTCTAGTATATTTTAAGAGATGTGCATGCATTCTATTTAGTCTTCAGAATGCTGAATTTACTTGTTGTAAGTCTATTTTAACCTTCTGTATGACATCATGCTTTATCATTTCTTTTGGAAAATAGCCTGTAAGCTTTTTATTACTTGCTATAGGTTTAGGGAGTGTACCTCAGATAGATTTTAAAAAAAAGAATAGAAAGCCTTTATTTCCTGGTTTGAAATTCCTTTCTTCCCTTTTTTTGTTGTTGTTATTGTTGTTTGTTGTTGTTATTTTGTTTTTGTTTTTAGGAATTTGTCAGAAACTCTTTCCTGTTTTGGTTTGGAGAGTAGTTCTCTCTAACTAGAGACAGGAGTGGCCTTGAAATTTTCCTCATCTATTACACTGTACTTTCTGCCACACACTGCCTTGTTGGCAAAGTATCCATCTTGTCTATCTCCCGGCACTTCTGAAATATATTGCTACCATTGTATAACTAATAACAGATTGCTTAAGCTGTTCCCATGCACCACCTGTTTGCTTGCTTTCAATGAACCTTTCATAAATTCGCAGTCTCAGCTTATGGTTTATGGCCTCGATTCTGCAAACCTAACAGGGTCACATATGTTCTCTAATGCAGTCCTTCTACCTGGTGTTTACTTTTGTTACCTAAATAATGAGTAGGATCTTGTTTTGTTTTATCACCAGCACACAGATTGCTATAAACTGTTACTTTGTGAATTACATTTTTATAGAAGATATTTTCAGTGTCTTTACCTGAGGGTATGTCTTTAGCTATGTTTTAGGGCCATACATTTACTCTATCAAATGATCTTTTCTCCATCCCCCAGGCTGTGCTTATTTCTAGTGCCTTGTGCTCACTCCTGCTCTCTACAGAGCCAGCCTGGCCTGGGCATTGTAAACAGCTTTTCCTTTTTCTCTTACTGTTTTCTCTACAGTCCTTTATATTTCATACCATCTCTGCCTTATAAGTGGTTTAGTGCTCAGTTGGCTCTAGTAACCAGAGGACACAGAAAGTATCTTTTGGAAAGTTTAGCCACCTGTGCTTTCTGACTCAGAGTGCATGCAACAGTTAGATCATGCAACAGTTAGATTATGTTTAGGGTTAGGATTTTCAAAGAATGGAGGTTGCTGCACTCAGAAAATAATTCAGATCATGTTTATGCATTATTAAGTTGTACTGAATTCTTTGCAGCTTAATGTGATATATGACTATCTTGAACAAGAGAAAAAACTAGGAGATGTTTCTCCTGAAGAGCTTTTGGGGTTGGGAACTATTCTTTTTTAATTGCTGTACTACTTAACATTGTTCTAATTCAGTAGCTTGAGGAACAGGAACATTGTTTTCTAGAGCAAGATAATAAAGGAGATGGGCCATACAAATGTTTTCTACTTTCGTTGTGACAACATTGATTAGGTGTTGTCAGTACTATAAATGCTTGAGATATAATGAATCCACAGCATTCAAGGTCAGGTCTACTCAAAGTCTCACATGGAAAAGTGAGTTCTGCCTTTCCTTTGATCGAGGGTCAAAATACAAAGACATTTTTGCTAGGGCCTACAAATTGAATTTAAAAACTCACTGCACTGATTCATCTGAGCTTTTTGGTTAGTATTCATGGCTAGAGTGAACATAGCTTTAGTTTTTGCTGTTGTAAAAGTGTTTTCATAAGTTCACTCAAGAAAAATGCAGCTGTTCTGAACTGGAATTTTTCAGCATTCTTTAGAATTTTAAATGAGTAGAGAGCTCAACTTTTATTCCTAGCATCTGCTTTTGACTCATTTCTAGGCAGTGCTTATGAAGAAAAATTAAAGCACAAACATTCTGGCATTCAATCGTTGGCAGATTATCTTCTGATGACACAGAATGAAAGGGCATCTCAGCCTCTCTGAACTTTGTAAAAATCTGTCCCCAGTTCTTCCATCGGTGTAGTTGTTGCATTTGAGTGAATACTCTCTTGATTTATGTATTTTATGTCCAGATTCGCCATTTCTGAAATCCAGATCCAACACAAGCAGTCTTGCCGTTAGGGCATTTTGAAGCAGATAGTAGAGTAAGAACTTAGTGACTACAGCTTATTCTTCTGTAACATATGGTTTCAAACATCTTTGCCAAAAGCTAAGCAGTGGTGAACTGAAAAGGGCATATTGCCCCAAGGTTACACTGAAGCAGCTCATAGCAAGTTAAAATATTGTGACAGATTTGAAATCATGTTTGAATTTCATAGTAGGACCAGTACAAGAATGTCCCTGCTAGTTTCTGTTTGATGTTTGGTTCTGGCGGCTCAGGCATTTTGGGAACTGTTGCACAGGGTGGAGTCAAAACAACCTACATATAAAAAGAGAAAAAGAGAAACTTGTCCATTTAGCTTTCATAAGAAATCCCATGGCAAAGGGTAATAAAAAGGACCTAATCTTAAAAATACAATTTCTAAGCACTTGTAAGAACCCAGTGGGTTGGAGCCTCCCACTTTGTCCCTCCTTTGAAGTGGATGGGAACTCAAGGTGCAAAGAACCTGTTTTGGAAGAAAGCTTGGGGCCATTTCAGCCCCCTGTATTCTCATGATTTTCTCTCAGGAAGCACACACTGTGAATGGCAGACTTTTCATTTAGCCCCAGGTGACTTACTAAAAATAGTTGAAAATTATTCACCTAAGAATAGAATCTCAGCATTGTGTTAAATAAAAATGAAAGCTTTAGAAGGCATGAGATGTTCCTATCTTAAATAAAGCATGTTTCTTTTCTATAGAGAAATGTATAGTTTGACTCTCCAGAATGTACTATCCATCTTGATGAGAAAACTCTTAAATAGTACCAAACATTTTGAACTTTAAATTATGTATTTAAAGTGAGTGTTTAAGAAACTGTAGCTGCTTCTTTTACAAGTGGTGCCTATTAAAGTCAGTAATGGCCATTATTGTTCCATTGTGGAAATTAAATTATGTAAGCTTCCTAATATCATAAACATATTAAAATTCTTCTAAAATATTGCTTTTCTTTTAAGTGACAATTTGACTATTCTTATGATAAGCACATGAGAGTGTCTTACATTTTCCAAAAGCAGGCTTTAATTGCATAGTTGAGTCTAGGAAAAAATAATGTTAAAAGTGAATATGCCACCATAATTACTTAATTATGTTAGTATAGAAACTACAGAATATTTACCCTGGAAAGAAAATATTGGAATGTTATTATAAACTCTTAGATATTTATATAATTCAAAAGAATGCATGTTTCACATTGTGACAGATAAAGATGTATGATTTCTAAGGCTTTAAAAATTATTCATAAAACAGTGGGCAATAGATAAAGGAAATTCTGGAGAAAATGAAGGTATTTAAAGGGTAGTTTCAAAGCTATATATATTTTGAAGGATATATTCTTTATGAACAAATATATTGTAAAAATTTATACTAAGGTCATCTGGTAACTGTGGGATTAATATGGTCGAAAACAAATGTTATGGAGAAGCTGTCCCAAGCAAACTAAATTACCTGTACTTTTTTCCCATTTCAAGGGAAGAGGCAACCACATGAAGCAATACTTCTTACACATGCCTAAGAACGTTCATTGAAAAAATAAATTTTTAAAAGGCATGTGTTTCCTATGCCACCAATACTTTTGAAAAATTGTGAACCTTACCCAAAACCATTTATCATGTCCATTAAGTATATTTGGGTATATAATTAGGAAGATATTTACATGTTCCATCTCCACAGTGGAAAAACTTATTGAGGCTACCAAAGTGTGCCAAGAAATGTAAGTCCTTAGAGTAATTAGAAATGCTGTTTTCCTCAAAAGCATGAGAAACTAGCATTTTCATTTCTTATTTACTCCCTTTCTATATCAATGCAATTCACAACCCAATTTTAATACATCCCTATATCTCAAGCATTTCTATCTTGTACTTTTTCAGAAAATAAACCAAAAATAATCCTTTGGTCTCTCTATCTTCTGACCTTTGTAAGCAACAGAAATGTAAAAACAGAAGGGGTCCAATTTTTACACGTTTTTTTCTCAAGTAGCCTTTCTGGGGATTTTTATTTTCTTAATGAAGTGCCAATCAGCTTTTCAAAATGTTTTCTATTTCTCAGCATTTCCAGGAAGTGATAACGTTTAGCTAAATGAGTAGAAGTGGACTTCCTTCAACATATTGTTACCTTGTCTAGCCTTAGGAAGAAAACAAGAGCCACCTGAAAATAAATACAGGCTCTTTTCGAGCATCTGCTGAAATACTGTTACAGCAATTTGAAGTTGATGTGGTAGGAAAGGAAGGTGACTTTTCTTGCAAAAGTCTTTCTAAACATTCACACTGTCCTAAGAGATGAGCTTTCTTGTTTTATTCCGGTATATTCCACAAGGTGGCACTTTTAGAGAAAAACAAATCTGATGAAGACTAAAGAGGTACTTCTAAAAGAGATTTCATTCTAACTTTATTTTTCTGCGCATATTTAACTCTTTCCTAGCACTTGTTTTTTGGGATGATTAATAGTCTCTATAATGTTCTGTAACTTCAATATTTTACTTGTTACCTAGGTTCTGAACAATTGTCTGCAAATAAATTGTTCTTAAGGATGGATAATACACCCATTTTGATCATTTAAGTAAAGAAAGCCTAGTCATTCATTCAGTCAAGAAAAAATTTTTGAAGTACCCAGTTACCTTACTTTTCTAGATTAAAACAGGCTTAGTTACTAAAAAGGCAGTCCTCATCTGTGAACAGGATAGTTTCGTTAGAAGTATAAAACTCCTTTAGTGGCCCCAGTTAAAACACACATACCCTCTCTGCTGCTTTCAAATTCCCTAGCATGGTGGCCTTTCAACATTGATTAAATTTTAAAATCCTAATTTAAAGATCAGGTGAGCAAAATGAGTAGCACATCAGTAATTCAGTAGACAAAACTTTTGTCTGAAAAATTGCTGTATTGAAACAGAGCCCTAAAATACCAAAAGACCAGGTAATTTTAACATTTGTGGAATCACAAATGTAAATTCATAAGAAGCTCTAATTAAAAAAAAAAAGTCTGAAGTATATGAGCATAACAACTTAGGAGTGTGTCTACATACTTAACTTTTGAAGTTTTTTGGCAACTTTATATACTTTTTTTAAATTTACAAGTCTACTTAAAGACTTCTTATACCCCAAATGATTAAGTTAATTTTAGAGGTCACCTTTCTCACAGCAGTGTCACTTGAAATTTAGTAGGGAAGGATATTGCAGTATTTTTCAGTTTCCTTAGCACAGCACCACAGAAAGCAGCTTATTCCTTTTGAGTGGCAGACACTCGACGGTGCCTGCCCAACTTTCCTCCTGAGTGGCAAGCAGATGAGTCTCAGTAATTCATACTGAACCAAAATGCCACATACACTAGGGGCAGTCAGAAACTGGCTGAGAAATCCCCCGCCTCATTCGCCCCTCTGCTCCCAGGAACTAGAGTCCAGTTAAAGCCCCTATGCGAAAGGCCGAATTCCACCCCAGGGTTTGTTATAACAGTGGCCAGTCTGAACCCCATTTGCTCGTGCTCAAAACTTGATTCCCACTTGAAAGCCTTCCGGGCGCGCTGCCTCGTTGCCCCGCCCCTTTGGCAGGAGAGAGGCAGTGGGCGAGGCCGGGCTGGGGCCCCGCCTCCCACTCACCTGCCGGTGCCTGAAATTATGTGCGGCCCCGCGGGCTGCTTTCCGAGGTCAGAGTGCCCTGCTGCTGTCTCAGAGGCATCTGTTCTGCAAATCTTAGGAAGAAAAATGTCCCTAGTAGCAAACGGGTGTCTTCTGTGCATAAATAAGTACAACACAATTCTCCGAAAGTTCGGGTAAAAAGAGATGCGGTAGCAGCTGCCCTGTGTGAAGCTGTCTACCCCGCATCTCTCAGGCGCTAAGCTCAGTTTTTGTTTTTGTTTTTGTTTTTTTAAAGAAAAGATGTATAATTGCAGGAATTTTTTTTTATTTTTTTATTTTCCATCATTCTATATATGTGATGGTGAAAGATATGCCTGGAAAAGTTTTGTTTTGAAAAGTTTATTTTCTGCTTCGTCTTCAGTTGGCAAAAGCTCTCAATTCTTTAGCTTCCAGTTTCTTTTCTCTCTTTTTCTTTGTTAGGTAATTAAAGGTATGTAAACAAATTATCTCATGTAGCAGGGGATTTTCATGTTGAGAGGAATCTTCCGTGTGAGTTGTTTGGTCACACAAATAACCCTTTCTCAATTTTAGGAGTTTGGATTGTCAAATGTAGGTTTTTCTCAAAGGGGGCATATAACTACATATTGACTGCCAAGAACTATGACTGTAGCACTAATCAGCACACATAGAGCCACACAATTATTTAATTTCTAACTCTCTGTGGTCCCTAGAAAAATTCCGTTGATGTGCTTAGGTTAAAGTTCTGAAGATACCCGTTGTACCCTTACTTGAAAGTTTCTAATCTTAAGTTTTATGAAATGCAATAATATGTATCAGCTAGCAATATTTCTGTGATCACCAACAACTCTCAGTTTGATCTTAAAGTCTGAATAATAAAACAAATCCCAGCAGTAATACATTTCTTAAACCTCACAGTGCATGATATATCTTTTCATTCTGATCCTGTGTTTGCAAAAATATACACATGTATATCATAGTTCCTCACTTTTTATTCATTTGTTTTCCTATTACCTGTAGTAAATATATTAGTTAGTACATGGAATTTATAGCATCAGCTACCCCCAGGAACAGCACCTGACAGGCGGGGGATTTTTTTTCAAGTTGTTCTACATTTGCATAAATTATTTCTATTATTATTCATGTATGTTATTTATTTCTGAATCACACTAGTCCTGTGAAAGTACAACTGAAGGCAGAAAGTGTTAGGATTTTGCATCTAATGTTCATTATCATGGTATTGATGGACCTAAGAAAATAAAAATTAGACTAAGCCCCCAAATAAGCTGCATGCATTTGTAACATGATTAGTAGATTTGAATATATAGATGTAGTATTTTGGGTATCTAGGTGTTTTATCATTATGTAAAGGAATTAAAGTAAAGGACTTTGTAGTTGTTTTTATTAAATATGCATATAGTAGAGTGCAAAAATATAGCAAAAATAAAAACTAAAGGTAGAAAAGCATTTTAGATATGCCTTAATTTAGAAACTGTGCCAGGTGGCCCTCGGAATAGATGCCAGGCAGAGACCAGTGCCTGGGTGGTGCCTCCTCTTGTCTGCCCTCATGAAGAAGCTTCCCTCACGTGATGTAGTGCCCTCGTAGGTGTCATGTGGAGTAGTGGGAACAGGCAGTACTGTTGAGAGGAGAGCAGTGTGAGAGTTTTTCTGTAGAAGCAGAACTGTCAGCTTGTGCCTTGAGGCTTCCAGAACGTGTCAGATGGAGAAGTCCAAGTTTCCATGCTTCAGGCAACTTAGCTGTGTACAGAAGCAATCCAGTGTGGTAATAAAAAGCAAGGATTGCCTGTATAATTTATTATAAAATAAAAGGGATTTTAACAACCAACAATTCCCAACACCTCAAAAGCTTGTTGCATTTTTTGGTATTTGAGGTTTTTATCTGAAGGTTAAAGGGCAAGTGTTTGGTATAGAAGAGCAGTATGTGTTAAGAAAAGAAAAATATTGGTTCACGTAGAGTGCAAATTAGAACTAGAAAGTTTTATACGATTATCATTTTGAGATGTGTTAAAGTAGGTTTTCACTGTAAAATGTATTAGTGTTTCTGCATTGCCATAGGGCCTGGTTAAAACTTTCTCTTAGGTTTCAGGAAGACTGTCACATACAGTAAGCTTTTTTCCTTCTGACTTATAATAGAAAATGTTTTGAAAGTAAAAAAAAAAAATCTAATTTGGAAATTTGACTTGTTAGTTTCTGTGTTTGAAATCATGGTTCTAGAAATGTAGAAATTGTGTATATCAGATACTCATCTAGGCTGTGTGAACCAGCCCAAGATGACCAACATCCCCACACCTCTACATCTCTGTCCCCTGTATCTCTTCCTTTCTACCACTAAAGTGTTCCCTGCTACCATCCTGGCTTGTCCACATGGTGCTCTCCATCTTCCTCCACATCATGGACCACAGGTGTGCCTGTCTAGGCCTGGCCACCACTCCCAACTTGACCTAGCCACATTCATCTAGAGATGGTTCCTGATGCTGGGCACAGACTGTGCTCATGGCACCCATTAGAAATGCCTCTAGCATCTTTGTATGCATCTTGATTTTTAAACCAAGTCATTGTACAGAGCATTCAGTTTTGGCTGTGGTACCAAGAGAAAAACTAATCAAGAATATAAACCACATTCCAGGCTGCTGTTTTCTCTCCATCTACAGGCCACACTTTTACTGTATTTCTTCATACTTGAAATTCATTCTGCTATTTTCATATCAGGGTACAGACTTATAAGGGTGCATGTTCCTTAAAGGTGCATAATTATTCTTATTCCGTTTGCTTATATTGCTACAGAATGCTCTGTTTTGGTGCTTTGAGTTCTGCAGACCCAAGAAGCAGTGTGGAAATTCACTGCCTGGGACACAGTCTTATAAGAATGTTGGCAGGTGACTTTGTATCAGATGTTGCTTCTCTTTTCTCTGTACACAGATTGAGAGTTACCACAGTGGCCTGTCGGGTCCACCCTGTGGGTGCAGCACAGCTCTCTGAAAGCAAGAACCTTCCTACCTATTCTAACGTTTTTGCCCTCTAAGAAAAATGGCCTCAGGTATGGTATAGACATAGCAAGAGGGGAAGGGCTGTCTCACTCTAGCAACCATCCCTCCATTACACACAGAAAGCCCTCTTGAAGCAAAAGAAGAAGAAAGAAAGAAAGCTTATCTCTAAGGCTACTGTCTTCAGAATGCTCTGAGCTGAATGCTCTTGCTCCTTTCCCAAGAGGCAGATGAAAATATAGCCAGTTTATCTATACCCTTCCTATCTGAGGAGGAGAATAGAAAAGTAGGGTAAATATGTAACGTAAAATATGTCATTCAAGGACCACCAAAACTTTAAGTACCCTATCATTAAAAATCTGGTTTTAAAAGTAGCTCAAGTAAGGGATGCTTTGTGACCCAGGGTTTCTGAAGTCAGATAGCCATTCTTACCTGCCCCTTACTCTGACTTATTGGGAAAGGGAGAACTGCAGTGGTGTTTCTGTTGCAGTGGCAAAGGTAACATGTCAGAAAATTCAGAGGGTTGCATACCAATAATCCTTTGGAAACTGGATGTCTTACTGGGTGCTAGAATGAAAATGTAGGTATTTATTGTCAGATGATGAAGTTCATTGTTTTTTTCAAAATTGGTGTTGAAATATCACTGTCCAATGTGTTCACTTATGTGAAAGCTAAATTGAATGAGGCAAAAAGAGCAAATAGTTTGTATATTTGTAATACCTTTTGTATTTCTTACAATAAAAATATTGGTAGCAAATAAAAATAATAAAAACAATAACTTTAAACTGCTTTCTGGAGATGAATTACTCTCCTGGCTATTTTCTTTTTTACTTTAATGTAAAATGAGTATAACTGTAGTGAGTAAAATTCATTAAATTCCAAGTTTTAGCAGAA)$ MEDEERQKKLEAGKAK|vq* 05CO048 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 9 2 0 657 16 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCG)GTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 05CO048 ENSG00000172020.13(70810),ENSG00000185565.12(10063) ENSG00000242759.8 ./- -/- chr3:115792300 chr3:106557391 intergenic exon deletion 3 2 0 24 3 medium . . . . . . ENSG00000242759.8 . ENST00000668075.1 upstream downstream . CCCTGGGCAGCCCTAAGTAAGAGTCATCAGAAGCTTCCAGGCAATTGTCACTGAAAAATAAGTGCTATAGCACTACCTCAGCTGCTGCAACCACAGACCTCATTCAGAAATCTTTATTGTATTAACCCTTGTGTGTCCGGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCCTGGGACACTCACGG|GTCCTGTTGGTGAGTGTGCTTATTCAGATGGAGCCTAGACAGTTTGTGAACACTGATTCTGCTCTTATGGAGCTTCTTGGTACTGGCACTGAATGGTGTGCCTTAAAGTGAAG___CCTGAATGTCTCAGATTGATTTCAAACAAATGCAG(CAACAAATCAAGGTGTTCTTCCTTGGGAAGTGATGGGTGTTTTGCCTACTGTCAATCTCTGG___ACAAAGTTGGTGCCCCACCTACATCCCTTCAGCACTCCCTGGAGATCAGCTGCAGCTTCCCATGTACACTACTGTGAATCCCTTAAGCACCGTGTCTTTATGTCTAAGAGAGCAGTCTGACCCGTGAGTGGTACAGGGCAAACGTGCTGGAGAATTAATGTTCCCATAAGCAACTATCAACCAATGAGGGATTGAGGCTGGTAGATAAAATTCTGTAGCAGGCTTTGTAGGTCCTGGAATTCTGAGGTGTACTCTATATGGTCTCTCAGAGGGCACCTTTCCCCAGTTTTCCTACTTCCTCATTTTGCTGCCTCCTAAATAAA)$ . 05CO048 ENSG00000134030.14 ENSG00000270112.4 +/+ +/+ chr18:48636685 chr18:46782564 CDS/splice-site exon/splice-site duplication 3 0 0 16 11 medium out-of-frame . . . . ENSG00000134030.14 ENSG00000270112.4 ENST00000256413.8 ENST00000662459.1 downstream upstream . ^(ACTCTCCTACATTCTCTTTCCCTGTGTCAGATCAGGGATCATTTTTTTTCCTTCCTCTACTCCCTCCCCCCTACCCGCCCCTCCCTCCCTGTTTCCCTTCCCTCCCTCCCTCCCCTCTCTGCTGGGTCTGTGCGCTGGGGCGCCCGATCCCCTCCGCAGCTGGGACGCTCCGAACTCGAGGCAGGAGTCGGCTCTCCGGAGCCTCGTCCCTCCCTTCCCCTTCCCTGCCCCCTTCCCCCACCCCCGACTCGGGCTTGGCGCGGCGGCCAGAGGAACCCCGAG___TCCCGGCCCAGGCCCCTGAGCTGGAGGGATGGAAAACTCCTCTGCAGCATCAGCCTCCTCGGAGGCAGGGAGCAGCCGCTCCCAGGAGATCGAGGAG)CTGGAGCGCTTCATCGACAGCTACGTGCTGGAGTACCAGGTGCAGGGGCTGCTGGCTGACAAGACGGAGGGTGATGGCGAGAGCGAGAGGACCCAGTCCCACATCTCCCAG___TGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAG|GATGCTTCCTGCCCTCAAACATTGGACTCCCAGTTCTACAGTTTTGAGACTGGGACTGGCTCTCCTTGTTCCTCAAGCTTGCAG(ACAGCCTATTGTGGGATCTTGTGATCGT___ACTCTCTGTGGCCCAGGCTGGAGTGCACTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGGTTTCACCATATTGGCCCGGCTGGTCTCGAACTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTAGTCACCGTGCCTGGCCCATATCTATTCTTTGGTAAAATTTTTATTCAATTATTTTTCCTATTTTAGAATTGAGTTGTTTACACACATATACATTGTATTTTCCTCTGGATACAGATATGTCTTTTGCAAATATTTTCTTCCAGCCTAGACCTCATCATTTCAGTTTTTAAATAATGTGTTTTTTTTTTTTAAAATAAAGCTTTGTATTAGTCCATCTTCACACTGCTGTAAAGATACTACCAGCGACTGGGTAATTAATAAAGGAAAGCGGTTTAATT)$ MENSSAASASSEAGSSRSQEIEELERFIDSYVLEYQVQGLLADKTEGDGESERTQSHISQWTADCSEPLDSSCSFSRGRAPPQQ|dascpqtldsqfysfetgtgspcssslqtaycgil* 05CO049 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 23 1 51 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(2),low_entropy(2),mismappers(1),mismatches(3) GAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCC(GACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO049 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 6 7 0 18 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGAC(ACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 05CO049 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 8 0 15 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 low_entropy(1) GTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG(___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO049 ENSG00000160796.18 ENSG00000099910.17 +/+ -/+ chr3:46991946 chr22:20473136 CDS/splice-site intron translocation/5'-5' 1 3 0 34 8 high out-of-frame . . . . ENSG00000160796.18 ENSG00000099910.17 ENST00000450053.8 . downstream upstream . ^(AGTGAGGAGGAGGAGCGAGCAGACTTGGGTGGCTCTGCGCCGCGGAGGCCACAGCCGCAGACTTCCCCAGTAGTACCGCGCCGCTCCGCCCCGGAGTGACGCCCTCCGCCCATGGGCCTGGCCGAGGGCAACCGGCGGGCGGCGCGGAGGAGGCGGCGACAGGTGGCGCGCAGCAGGGCCGGAGCCGGGCCGGGCCATGGCCGCCTCGGAGCGGCTGTACGAGTTGTGGCTGCTCTACTACGCGCAG___AAGGACCTGGGTTACCTGCAGCAGTGGCTGAAGGCCTTTGTAGGTGCCTTCAAGAAGAGCATCTCACTGTCCTCTCTGGAGCCACGAAG___GCCAGAGGAGGCAGGTGCAGAGGTCCCGCTGCTACCACTGGATGAGCTGCATGTGCTGGCCGAACAGCTGCACCAGGCTGACCTGGAGCAAGCCCTCCTGCTGCTCAAGCTCTTCATCATTCTCTGCAG___GAACCTGGAGAACATAGAGGCAGGCCGGGGCCAAGTGCTAGTGCCCCGAGTGCTGGCACTGTTGACCAAGTTGGTGGCGGAG___CTGAAAGGATGCCCACCACCCCAGGGCCGAGGCACGCAGTTGGAGAATGTGGCCCTACATGCTCTGCTTCTCTGCGAGGGCCTCTTTGACCCTTACCAAACCTGGCGGCGCCAGCGCAGTGG___GGAAGTC)ATCAGCTCCAAGGAGAAGAGCAAATACAAGTTCCCTCCTGCTGCTTTGCCCCAGGAATTCAGCGCCTTCTTCCAAG___ACGCCATCCCCATGATGCTGGCATGTGAAGACCGGCCAGTGCTGCAAGCCACCTTCCTCAGCAACAATTGCTTTGAACACCTCACTCGGCTCATTCAGAACAGCAAG|GTGCTGGAGGAGGAGCCCCTGGAAGACCAATTAGGCCTGAGATTCCTGTGGGCCTGGAGGCCAAGGGTGACCCTGGCCCTGGGGAGGGCATTGCAGCTAGAAAGCAGTAGCTGAGACTACCCTGGGACACGGCACAGAGAACCTACTGACAGACTGAATCTAGG MAASERLYELWLLYYAQKDLGYLQQWLKAFVGAFKKSISLSSLEPRRPEEAGAEVPLLPLDELHVLAEQLHQADLEQALLLLKLFIILCRNLENIEAGRGQVLVPRVLALLTKLVAELKGCPPPQGRGTQLENVALHALLLCEGLFDPYQTWRRQRSGEVISSKEKSKYKFPPAALPQEFSAFFQDAIPMMLACEDRPVLQATFLSNNCFEHLTRLIQNSK|vleeepledqlglrflwawrprvtlalgralqlesss* 05CO049 ENSG00000178974.10 ENSG00000180008.9 +/+ +/+ chr14:55271537 chr14:55042952 5'UTR/splice-site 5'UTR/splice-site duplication 5 0 0 88 46 medium . . |SH2_domain(100%),SOCS_box(100%),Suppressor_of_cytokine_signalling(100%) . . ENSG00000178974.10 ENSG00000180008.9 ENST00000313833.5 ENST00000395472.2 downstream upstream . ^GCTCGGTCCGACTCAGCGGTGGGGAGcGAGCCAGGCCTCCCGCCACCGCTGCTGCCGCCACCACTGCGTCGGGCTGGTGCAGCCCCGGGCCAGGCCGCGGCCGGGGCAGGAGCGCAG|ATACATCCAGAAAGTGCCCAGAAGAAACTTCCTGCTGGAAAAAATGAAAAAGCAGTATTTATAACATTAGAATCTGGATAATTTGTTAACATGGC(AGAAAATAATGAAAATATTAGTAAAAATGTAGATGTAAGGCCCAAAACTAGTCGGAGCAGAAGTGCCGACAGAAAAGACGGTTATGTGTGGAGTGGAAAGAAGTTATCTTGGTCAAAAAAGAGTGAGAGTTATTCAGATGCTGAGACAGTGAATGGTATAGAGAAAACCGAAGTGTCTTTAAGGAACCAAGAAAGGAAGCACAGCTGTTCATCCATTGAGTTGGACTTAGATCATTCCTGTGGGCATCGATTTTTAGGCCGATCTCTTAAACAGAAACTGCAAGATGCCGTGGGGCAGTGTTTTCCAATAAAGAATTGTAGTAGTCGGCACTCTTCAGGGCTTCCGTCTAAAAGGAAAATTCATATCAGTGAACTCATGTTAGATAAGTGTCCTTTCCCACCTCGATCAGATTTAGCCTTTAGGTGGCATTTTATTAAACGACACACTGCTCCTATAAATTCCAAATCAGATGAATGGGTAAGCACAGACTTGTCTCAGACTGAATTGAGGGATGGTCAGCTAAAACGAAGAAATATGGAAGAAAATATAAACTGTTTCTCACATACCAATGTTCAGCCCTGTGTCATAACCACCGACAATGCTTTGTGTAGAGAAGGTCCTATGACTGGCTCTGTGATGAACCTGGTTTCAAATAACAGTATAGAAGATAGTGATATGGATTCCGATGATGAAATTCTAACACTTTGCACAAGTTCCAGAAAAAGAAACAAACCCAAATGGGATTTGGATGATGAAATCCTGCAGTTGGAAACACCTCCTAAATACCACACGCAGATTGATTATGTCCACTGTCTTGTACCAGACCTCCTTCAGATCAATAACAACCCATGTTACTGGGGAGTGATGGATAAATACGCAGCCGAAGCACTACTGGAAGGAAAACCAGAGGGTACCTTTTTACTTCGAGACTCAGCACAGGAAGACTATTTATTCTCTGTTAGTTTTAGACGCTATAGTCGTTCTCTTCATGCTAGAATTGAACAGTGGAATCACAACTTTAGCTTTGATGCACATGACCCCTGTGTCTTCCATTCTCCTGACATTACTGGGCTCCTAGAACATTATAAGGACCCAAGCGCCTGTATGTTCTTTGAACCACTTCTATCCACTCCCTTAATTCGGACTTTCCCTTTTTCCCTGCAGCATATATGCAGAACAGTTATTTGTAACTGTACAACTTATGATGGCATCGATGCCCTTCCAATTCCTTCTTCTATGAAATTATATCTGAAGGAATATCATTATAAATCAAAAGTTAGAGTACTCAGGATTGATGCACCAGAACAGCAATGCTAGTAACAGGATGGGAACATGGGAATGATAATATATATTTTTTCTTTTAATATTTTATTTTTCTTTTTATGCCACTTTGGATTTTTCTACAAAGGCAGTGGTGTCCAAAATAAAATCTCTGCCCTAAATTTTACTAATAAATCCATTTTTCTAGTGATACACAAATTGTTTAAGGTTATACACTCGAGCTTAAATAGATATTTTTAACCAGGTGTTTGGTTTTTGTTTTTACCGTGTAGGTTGTATACTTACATTTTTTCTTTCCTTAATTTATACATGATCCTTTTTCCTTAATTTATACATGATCCAGGCACATTTGAAATTTGGTAGGCATTGCAAACACATTTGAATATTGTGTATTTCATACTATTCTTTAAAAGTAATCTTATGTCCTTTCCTACATGTAAAATATTTTGTTAATCTATGCCATTAGTAGTATTATATATAAAATATAGTTCCCCGTCCCCCTTTTCATTGAGTTTGATATTCTTCAGTAAAGCTGAATGTTGTAATTCACCATTCATACTAATGTTATTGACTTTTGTAACTTACTAATAGGGATGTTAAAAGTAACAAAACCAAGTCAAACTTGGTGTATTTTTATTTTAAATATTAACTCTAAAGCAGGATTACTAAATTTGATTAATCTGGTCAATGAGAATCAAATGGAAACATATCATTCTGGAGGTGCACTTACTCTTCTACAATGTGGCCGGATCATTTGTCATTCCTGAATAGGTCTTTCTCTCAACCTGCAAGAGCTAAACCATCTTCAAAACATAAATCTTGTTCCTTTCTCATTGGAAGCTTTGAAAATAATGATAACACTATTAGTAGCTAGTAGTTACTAAAGTGCTAAAGTAATTGTGGGGTTTTTCTGTATTAGCTTATGAACTGTTGCTTCTACTTAGCCCTTTTATAGAAACTCTGAGCTGTTACTTTGGGGAAATTCCACAATGTATTAGCAGCCACAAATTTCCACTGGTAACCAAAGAGTACCTAAGTAGTTTTTCATTATTTTAAGTTGAATTTGAATAAAGATTCCAGAAATAAACATGGAGCTCAGTATTCAGGAAGCTTAATACTGTTTTTGATCTACAAGATCCAAATAATTATCCCTATCTTCAGAATTAACTTAGTCTGTAATGTGGCTTCAAAAAAAGAAAGCCTTTTGACAGCTACATGACTTACACCATACAGAACAGTACTGGACAAAAGGGGTGATATTTTAAATTTACTATCCCAGAAACAGGGCAACGTTTTTAGAAACATCTTTAGCCCAAAGTAACTAGTAAAAATAAATGGAGTGGTATCCTATCTTCTTTTTTTAAGGAATCAATGAATAATAAATGTAGATAGACAATTTTCTTCTGGTGAGCTGTCTAACCCTTTGTACACATTGACATTTTTAATATCGTAACTGATTTCTTGATGCTAGTTTAGCTATATTAGGAAACTGCTTCTACCTAGATTGAAAGAAATTTGACTCATAAACTTCCAAGTTAGAACAAATATTTCTTCATTATTGTTGCTTTTATGTGAGTAGCATTTCCCTATCTTGCAGTTCTGTTAACATGAAAATGGCATTTTTCCATAATAGCTTTAAAATAATTTTTTAGTAATTATTACAAAATTAAGGAAAATCTCTATTACCGTTATCTTTTAGCATTTTTTTTTTCCTCAGTGATCTCAAGATTGTCTTAGTCTCAATGAGATGTAGCTACAAAAATGGCACCTCTTAGCAGTGATGAGGCTCAGGATATCGGATATCATAACACCAATGTCAGGATAAATATCTCTTCTAAAGACGATATTTACCTTTTACAAGGTTAGAAAAGTCTCATACTACCTCATCTTTATTGTGGCGCTTTTGTAGATCACTGAGAAGCTTATCTTATTAACCAATATACCACTTCCTAAATATCCATCTTTGGTGAAAGAAAATAGTGTGGTAAGAGTACCCATGATTATAGTTTTTTATCAGAATTTGATAAGATTTTCTGTTTCTGTGAAACAATTATTTTAAATATTTTTCTTTTAAAAATAACTTTTTATCAGTACAGAAAAACCTAAGGGATGACTAGCTTACAAATATTCTGTTAAGGGGTAGTTTTATAAAGAAAAATGATATATAGTTATGTTGTCTTTTATAGTGTTAAAATTAGTATTTATATGAAAGTCAAGATCTAAGTACCTTTTCATATAATTCAAACTGATTGCTTGTGATATGTTTTCTCTGGCTTTTTTATTTTTTCAACTTCAAGGTATTAACAGCTGTTAACACTTAAAAAGTACTGCCACATATGTAGCCTTGAAGTAGTTGATCTAATAAATGAGAGCAGGGAGGAGATTCATTGACTCTGAAATGATTTTTATTTTTCCTTTGGTATTTGCTACAGTGAAAAGAAGTTTGGAAAGTAGATACATAAAGACTTGAGAAGGGAATTGTTTAAGGGAAAAGAAAAGAGTAATAATTTTTTTTAAAACATTAAGGAATTGGAATTCAGAAAGGTTACCCCCTTCCTCTGTGTCTTTGTAAGGATACATTTGGAAGAACATACAGTATTCAGAAACTAACCTATATAAAATGTAAACAATATATTGATTGCACTATATAAATGAGTAAATTTTGAGAGGAACAATGTGGGAATGTATAAATTTGTCTAAAATTTTATAACTGTTGAACAAAGGGAAGATTTGAACAGTGTAAATTCCAGAGTTGAGAAAGCATTTAGCATGGTGGAAATGTGGAGAGCTTATTGGTGAGAGAGGATGGAGCTAAGAGAAATAAGATCAAATATTAAAATTAGGAATTTAGGCATTACCTCAGGGAAAAGCCTTGACAGTGAAAAGAAACTACTTAATCGCTAATAGCTAGTCTGGACCAGACACTTAACTGCGCTTTGGGAATCATCCTGGGCTAATCAGGAAATAAACTTGACTTTTCTATTTTTCTCTGAAGCTTTACAGGACATACTCCCACTCCCATTTTTTTCTAAGCCTACAGCATCTTGATTCATAGTATAATTCCTGAAGTATGCTGAATGGACTTTTTAAGGTTCCTTTAGCATTTTTGTATAGAGTTATATGTGATCTTTCTATAACCATGCCATTCACTTAAATAATTCATGAAGGGAATGGTTTAATTTAAAGGAAGACCTAATAGGAAGAAGATTAAAGGAAGCTTTTAGTCAGCCTGTGGCTAGATTTATTGATTTGGTGATCAAACCTGTGCTATTTCCTGAATTTCAGCTAATGGCCAACTGTGGTCAAAGAATGGCTTTCAGTTAAAGTTTTGACTTCTTATTATAAATAATATAAAGAATGTCTCAGTAATTAGAAATCCCTTAATAAGTAGAACAAATGTGGCAAGTAGGACTCCTATCGGTATACAAATTCCATTTCTTTTTATAAGAAAAACACATAAACCATTATCATTTATTCATGAGCCAAAGCCATTAAGAAGATAAATCCAGTTATCAGCTTCCTGTCTCTGAAGTTTGGATCATTTTATAGATCCACGCAATAGAGAGCTTCCTTCCTATGAAACAAAAACCTTGAGATCTCTTTTTTTTTGAGACAGAGTCTCGCTGTTGTCAGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGTTCACTGCAACCTCTGCCTTCCAGGTTCCAGCAATTCTCCTACCTCAGCTCCCAAGTAGCTGAGATGACAGGCGTGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGCGATGGTGTTTCACTACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAAGATCTAACTCACGCTTACTTTTCATTAAAATATTTCTTGTCGCTTTTAGCTATTGTCAGAATCCAATAAACAGCTTACGCATTCATTTTGGTAAAGCAAATTTCACAGGAAAATAGACAAAATTATAAGAGATTCCTGGAGACAACACAAGGAAAACAATGTTTAAAAGCAAAATAGCCTGTGTAATGTTAGGTAATGTAATGCCCAAGTGAATAAAAGATTTTTCGTCAAGCAAACTACTGTTTCTACTTTGGGGGAAAAAAGTCAGTTTTACATTTGTAATTTAAGGAAAGAACAGAAAGCACAAAGGTTTTTCTTTTCTTTATTAATGGCCTACTAGAAATGAGCAGTGCAAGAGTCTACCTGTACTATTCTAATACAGTAAGATATTGGACACAAAATGGAGGTAACTTTTTAAAATAGATTGGCTTGGAAGTTGAAATGTAGATTAATGGATATAACCCAATAGAAAGGGATTTTCAAATAAAACCAAAGTCTATTTTTTTATTTACTTTCTAATTTTGAACAGATGACTCAGTCCTAAATCTTTGCCTTTATTTCCTATAAAATGTAGGTGATACTTGTAACTCGACTTCCTGGAGTTAATTCTTCAGCAAGAGGTGACCCTGGGAGCGTACTTTAAAATAATTGCTGTACAGCCATTGAGTACTAACATGATGATAGGTTTTCAAAATATCTTTGTAGTGGATGCTGCATAATTACATTCACTTCTCTTAGACTGTAAAAGACTTTCTTGACTTGTTTTAACAGTAGAGATAGCAGTACAATTTGAATTTATGGTTTAGGCTCTGCAATTAGAGGAACAATTGCAGTTTCCTCCTACCCTTCATATGGTCTGTGTAAAACTGATGTTTGCTTAACTTATTTTAAAAGTTGATTACGTTTTCAGAAAATAAAGATAATCACTTTTGCCATGGTTATAATCAAATCTAAGCTTTCAGACTTGAGAGCCATGGTGTAAAACTCAAGGAGGTTTATTTAAATTATGCTGACTTTGCTAGAATTGGATAAATTCTGTATAAGCCAAGTATGAGTTCACATGTACTCGAATATACAGTTTTCACAAAGCTATTACTCTCATCAGTCAGGCTTGTATGATCTATTCCTTACCACAAAAGAAGTAGACAATTGCCACTTTTATTTCTAATCCTTAAGTTGAATGTTTCTTCTTGGATGTAAGTTCAAATAAATTGATCTGGATAAATTTTCATTTCTACTTAATTAAAACTTCCTATGTAAAATCCAA)$ . 05CO049 ENSG00000149016.16 ENSG00000276397.2 -/- +/+ chr11:62578821 chr18:76692014 CDS intron translocation 2 2 0 41 2 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc-finger_of_C2H2_type(100%)| . . ENSG00000149016.16 ENSG00000276397.2 ENST00000308436.11 . upstream upstream duplicates(1) ^(GTTTCCGGAGGAGTGTGTCCGCGCAATTGAACGACTTTATGTCACTTCCTATCGGATCGGCGGAAGTTGCTTCCGAGCGCGTTGAGCTTTGGCGAAGTGGGTTCCGGTGGTGGCAGAGGTGCTTGTGTTTTTGTCGGTACAGGAGAGTCGCTATGGCGGCGGTGGATTCGGATGTCGAATCGCTGCCGCGTGGGGGGTTCCGCTGCTGCCTCTGCCACGTTACTACAGCCAACC___GACCCAGCCTTGATGCCCACTTGGGAGGCAGAAAGCACCGGCACCTGGTAGAACTACGAGCTGCGAGAAAGGCCCAGGGACTTCGAAGTGTGTTTGTCAGTGGCTTTCCCAGGGATGTGGATTCTGCTCAGCTCTCTGAGTACTTCCTAGCATTTGGACCTGTGGCCAGTGTTGTCATGGACAAGGACAAG___GGAGTGTTTGCCATTGTGGAGATGGGGGACGTGGGTGCTCGAGAGGCTGTCTTGTCACAGTCCCAGCACAGCCTGGGAGGACATCGCCTGCGTGTCCGCCCACGGGAGCAGAAGGAGTTCCAGAGCCCGGCCTCCAAATCCCCCAAAGGAGCGGCCCCCGACAGTCACCAGCTGGCCAAAGCGCTAGCTGAGGCTGCAGACGTGGGGGCACAAATGATAAAGCTTGTGGGGCTGAGGGAGTTGTCCGAGGCCGAGCGGCAGCTTCGCAGCCTAGTGGTGGCCCTGATGCAGGAGGTCTTCACAGAGTTCTTCCCTG___GCTGTGTGGTCCACCCTTTTGGCTCTTCCATAAATAGCTTCGATGTCCATGGCTGTGATCTTGACCTCTTCTTGGATCTGGGTGACTTGGAAGAGCCCCAG___CCAGTCCCAA)AGGCTCCAGAATCTCCATaGCTGGACTCGGCCCTGGCTTCCCCACTGGACCCTCAAGCCCTGGCCTGCACCCCAGCTTCCCCTCCAGATTCACAACCTCCTGCTTCTCCCCAGGATTCTGAAGCCCTGGACTTTGAAACCCCTTCCTCCTCCCTGGCGCCCCAAACTCCGGACTCTGCCTTGGCCTCCGAGACCCTTGC|c|CACACACTGGTGATTTTGGAGAAGGGAATCTGCAGGACAACGGCGGTGGGGAGGGGCACAGAGAAGCTTGCAGAGtGGTTGCTGTTTGATCATTGGAATAATGAGGAAGCAGAGAAGCTGACAAACTTGGGA MSLPIGSAEVASERVELWRSGFRWWQRCLCFCRYRRVAMAAVDSDVESLPRGGFRCCLCHVTTANRPSLDAHLGGRKHRHLVELRAARKAQGLRSVFVSGFPRDVDSAQLSEYFLAFGPVASVVMDKDKGVFAIVEMGDVGAREAVLSQSQHSLGGHRLRVRPREQKEFQSPASKSPKGAAPDSHQLAKALAEAADVGAQMIKLVGLRELSEAERQLRSLVVALMQEVFTEFFPGCVVHPFGSSINSFDVHGCDLDLFLDLGDLEEPQPVPKAPESP*LDSALASPLDPQALACTPASPPDSQPPASPQDSEALDFETPSSSLAPQTPDSALASETLa|htlvilekgicrttavgrgteklaewllfdhwnneeaekltnl 05CO050 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 9 0 24 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(3),low_entropy(1),mismatches(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGgCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTaCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAG(ACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO050 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 1 14 0 20 21 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCT(ACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO050 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 16 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 duplicates(1),low_entropy(1) GGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAG(CTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO050 ENSG00000148660.20 ENSG00000148660.20(28118),ENSG00000222047.8(7269) -/- ./- chr10:73847225 chr10:73902709 CDS/splice-site intergenic duplication 2 2 0 41 2 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000148660.20 . ENST00000394762.6 . upstream downstream . ^(CTCCCCGGTAAAGTCTCGCGGTGCTGCCGGGCTCAGCCCCGTCTCCTCCTCTTGCTCCCTCGGCCGGGCGGCGGTGACTGTGCACCGACGTCGGCGCGGGCTGCACCGCCGCGTCCGCCCGCCCGCCAGCATGGCCACCACCGCCACCTGCACCCGTTTCACCGACGACTACCAGCTCTTCGAGGAGCTTGGCAA___GGGTGCTTTCTCTGTGGTCCGCAGGTGTGTGAAGAAAACCTCCACGCAGGAGTACGCAGCAAAAATCATCAATACCAAGAAGTTGTCTGCCCGGG___ATCACCAGAAACTAGAACGTGAGGCTCGGATATGTCGACTTCTGAAACATCCAAACATCG___TGCGCCTCCATGACAGTATTTCTGAAGAAGGGTTTCACTACCTCGTGTTTGACCT___TGTTACCGGCGGGGAGCTGTTTGAAGACATTGTGGCCAGAGAGTACTACAGTGAAGCAGATGCCAG___CCACTGTATACATCAGATTCTGGAGAGTGTTAACCACATCCACCAGCATGACATCGTCCACAGGGACCTGAAG___CCTGAGAACCTGCTGCTGGCGAGTAAATGCAAGGGTGCCGCCGTCAAGCTGGCTGATTTTGGCCTAGCCATCGAAGTACAGGGAGAGCAGCAGGCTTGGTTTG___GTTTTGCTGGCACCCCAGGTTACTTGTCCCCTGAGGTCTTGAGGAAAGATCCCTATGGAAAACCTGTGGATATCTGGGCCTGCG___GGGTCATCCTGTATATCCTCCTGGTGGGCTATCCTCCCTTCTGGGATGAGGATCAGCACAAGCTGTATCAGCAGATCAAGGCTGGAGCCTATGAT___TTCCCATCACCAGAAT)GGGACACGGTAACTCCTGAAGCCAAGAACTTGATCAACCAGATGCTGACCATAAACCCAGCAAAGCGCATCACGGCTGACCAGGCTCTCAAGCACCCGTGGGTCTGT|GTCTTCTGATTCTACCTGCATAGAATTGGGTTTCCAGAGCATTATGCTTTGCAGGGAGAGTAGACCCAGCAGCTTGTGTGATGACCACAATATTGCATCTTCAGTCA MATTATCTRFTDDYQLFEELGKGAFSVVRRCVKKTSTQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIHQILESVNHIHQHDIVHRDLKPENLLLASKCKGAAVKLADFGLAIEVQGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDIWACGVILYILLVGYPPFWDEDQHKLYQQIKAGAYDFPSPEWDTVTPEAKNLINQMLTINPAKRITADQALKHPWVC|vf* 05CO050 ENSG00000184903.10 ENSG00000128512.23 -/- -/- chr7:111521313 chr7:111747443 CDS/splice-site CDS/splice-site duplication 1 1 0 47 4 high in-frame . Peptidase_S24-like(100%)|Dock_homology_region_2(100%) . . ENSG00000184903.10 ENSG00000128512.23 ENST00000405709.7 ENST00000437633.6 upstream downstream . ^(GACTTCCCCCGGGCTGAGCTGCGCAGCGGGTGCGGAGGGCGGGCGCCCGGCGTCCGGCGGCGGGTGGGGGGCTGTGAGGCTGGCAGGGGTCGGCGGGCGCGTAGCCGCCGACCCTTGGTGGTCTCTTGGGCTGGGGACCCTTCCCTGGGAGTCGGCCCCGGCCCCGGCGGGGCGGGCGTTGCCGGGAGGCGGAGGGGTGCGCGGCCGCGAGTCCTGCGTGATCGCGAGCATGTGTGCGTGCGCGTGTTTATCTGAGGCGCGTGCGGCGGCCACCCCAGCCTAGTCCTCTTCTTGGTGCCACTGGCTAACTAGGTTGAGAAACCGGCGCCACAGGCGGCACACCTGGCCCGGAGCTGGCCCGCTCCTCCCCGCCGAGCCGGCGCCCCAACAACGCGCCCTCTCCCAGTCCTCACAAAGGGGCCTAGTCCGGCCCCCGGCTCTGGCCGTGAGGGAGCGCTGTGGGGGCGCGCTGCCTTCTGCCTGGAAGTGTTGGGCAGGTGGTGGGAGAGCGTCAGGCTTGAACAACATGATTTTAAAGCACGTGTCTGTCTGTCGTTTTTTACTTTTAGGGTTTTGGCCAAATTGGGCGAGGGCACAAAATAACCACTTACCCCTTCTCACCGAGGAAGAGCGGGAGAAAGG___)GTATGGCACAGTCACAAGGGTGGGTGAAAAGATACATCAAGGCCTTTTGTAAAGGCTTCTTTGTGGCGGTGCCTGTGGCAGTGACTTTCTTGGATCGGGTCGCCTGTGTGGCAAGAGTAGAAGGAGCATCGATGCAG|GTAGAAATGAGTCCTCTGGAAAATGCAATTGAAGTGCTAGAAAATAAGAATCAGCAGCTGAAGACTCTGATTAGTCAGTGTCAGACAAGACAGATGCAGAATATTAATCCCCTGACTATGTGCCTGAATGGAG(TTATAGATGCTGCAGTTAATGGTGGCGTTTCCAGGTATCAAGAG___GCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAG___GCACAGATTCTGGAATTTGGTTTGGCCGTGCATGAGAAGTTTGTACCTCAAGATATGAGACCCCTTCACAAAAAGCTGGTTGACCAATTCTTTGTGATGAAGTCGAGCTTAGGGATACAG___GAGTTCTCTGCTTGTATGCAAGCCAGTCCTGTCCATTTTCCTAATGGAAGCCCTCGTGTGTGTAGAAACTCAGCACCTGCTTCTGTGAGCCCAGATGGTACCAGGGTAATTCCTAGACGCAG___CCCGTTAAGTTACCCAGCTGTCAACCGATATTCTTCCTCCTCACTGTCCTCACAAGCTTCTGCTGAAGTAAGCAATATTACAGGGCAATCAGAAAGCTCTGATGAAGTCTTTAACATGCAG___CCAAGTCCATCTACCTCAAGCTTGAGTTCTACTCACTCGGCTTCACCTAATGTGACAAGTTCTGCTCCATCGAGTGCCAGAG___CTTCTCCTTTGTTGTCTGACAAACACAAACATTCCCGAGAAAACTCTTGCCTGTCACCAAGAGAGAGACCATGCAGTGCCATCTATCCAACACCTGTGGAGCCTTCGCAG___AGGATGCTGTTTAATCATATTGGAGACGGGGCCTTGCCACGCAGTGACCCAAATCTCTCTGCACCTGAAAAAG___CTGTGAACCCCACCCCTAGCAGCTGGAGCCTGGACAGTGGGAAGGAAGCCAAGAACATGTCGGATAGTGGGAAACTTATCTCTCCCCCTGTCCCTCCAAGACCCACACAGACTG___CTTCACCAGCAAGACACACGACATCAGTATCCCCCTCGCCTGCCGGGCGATCTCCATTGAAG___GGCTCTGTGCAGTCTTTCACCCCCTCTCCAGTGGAGTACCACTCGCCAGGACTCATCTCCAACTCCCCTGTCTTGTCGGGCAGCTACAGCAGTGGGATTTCTTCTCTCAGCCGGTGCAGCACGTCGGAAACCTCAGGCTTTGAAAATCAGGTGAATGAACAGTCGGCCCCCCTGCCGGTGCCAGTGCCGGTGCCCGTGCCGAGCTACGGCGGGGAGGAGCCAGTGCGCAAGGAGAGCAAGACTCCGCCCCCGTACAGCGTCTACGAGCGGACTCTGCGGCGCCCCGTCCCGCTACCTCACAGCCTCTCCATCCCCGTCACGTCGGAGCCGCCCGCGCTGCCCCCCAAGCCTCTGGCAGCGCGATCCAGCCACCTGGAGAATGGGGCCCGGAGGACTGACCCCGGCCCGCGGCCCAGGCCCCTGCCCCGCAAGGTCTCTCAGTTATAAGTCACTTTTCTATGTACCTGCGATGCATTCTTTGCCCGTTTACAAAATAAGAAGTATGATGAGAAGACATTTAGTGTAGGCACTTTAATAACTTACTCAGCTCCTTCGATGAATGGAATTAAAACTTGCTTATTAAATATCATGTTGCACAATATTAAAAGTTGCTGATCTAAAACGCCAGATGTTAAATGAAGTATGGCTGAATTTCATTAAAACGTTTCTCATTTGGAAGTGGTAAATAGTGATAAAGACTCCTTTTGTACCTTTTTATGTTCACTTTTTTTTATATAGTTTAATCTTAAAACCAATACGATATTGTCAAACGATACAATGTGTGACAATGTTGTATCGTTTTTACTGAATACTTGATACTTGGAGAAAGCTTATTAAGTCAGTGCACATCCTAACACAGTGGTCCTTATTTTAGAAGACTTCTGTAAATAAGGCAAGGTTTATCAGTGCAGATCATCAGAATTAAAGTTCAAGCAGGCGAGCAAGACAGTATACTTAAGGGGTTGCAAAGCTTGGGACTGGAAATTGTTTTGTTCTTGAAACAAAATACTTCTTTAAGGTTGCTTTTGCTGTTTGACTGCTGTCTACATTCGTAAAATTCTATTTTGTGAATTGGTAGCTAAATCCCTTACTACCCTGACACCGTGGTATCTACTGTATTTCTTTTCAAGGTGCAATTTGCTTCAGAGTTCCAATCAGCTAGATTAAGCAAGAGGCTCCAGAAGAAATGTTTACTTGAATTTTGCGCTTCCTTTCTTGATAGTTTCCTATATAAAATTTGTCATTGAACAAGAGCAAATGCTGAAGTATTAATGAGGCACAAATGACTGTGCCCCATTAGCAAGAATTCAGGAATCAATACAGACAGTATTAAATTAATAGCTTAAGTGAAGAAAAAAAAAACTTAGTGAAAATGTATTAGCACGATTAAATGGCAAAAGGACTTATAAAAGGCAAGGGCATTAACTTTCAGTCCTGCACAAAATAAAAAATTCCTCACGACTCTCCACTTTTACCAGTGGAGTTTGTCTTAGCTGACCTGTCGTCTTTCTCTTGAAGGAGGATTGCTGTAGACTTCTCTAGCTTGAATATTGCAACATAGCATCTTAGGTCTAGATAGGGATGCTAATGCCAGTTGTAGAAGTGTGAAAAAAGCACCTTGTATGTAGTAATGTATTTTATATCTTTGTTTTTTCTTTTACTGACTGTTTATAACACTCAATTGACAATAGATATGAACTGTATTTTAAATCATACTGTTAAATATTTTCCCTCTTTTGTTGGGAAGCTCATTTTAGTTTAACCATGTTTGTTTTGTTGGTAGCTTACCTGGAAGGCAGTGACCACTTTTTTATATTCTCTTAATGAAACCATTCAGCAGGTATATGCTGTTGAGGCTGGTTATAGAGGTTTTCTATAATAAATGTTCAAGTATTTTTGTATATAACTGGTTAATTTTAATAAGAGATACCATTATGTGTAAAAAAAAGTAAAAATAAACGCAAACAGTTGTTGATGCAGTATGATTGTTATAATTATGCCAAATACTTTACGTATGGAAAAAGAATATTTGTACATATGTGCTTTTAACAATTCTGCCATATTGACTTTACAATTTTGAATGTCGGAAAAATTAATATATGTTAAATATTTATGTTTAGTGAAAGTGTTCATAATTGAGAAAAGGAACATATGCATTTTAGCTTTGTATCTTGCAAGTTTTGCAGTCAGAAATTTTTTGAACTAGCTTTTGCTTTTGATAACACTTCGTGTTTGTAACCACATTCATATATATATACATATATATGTGAAGCTCCATATTTCTGTTGCTTTAAAGAAGTAAAACCTTCCATTTAAATAAGATGACATGCATAAGATAACAAAGCTTCCTTGATTTCCTTTTCCTGTGTAATTTAATAGATTTGTTGACTAGTGCTTGGGCACATTATAAATCAGTGTTATTTGCTCTTGGAGCCATTTTTTAAAAAAAATTTTGGCAGTGAGCAGTTGAATTTATCTTGAATTTATCATGTGTGTGTATTTCTGAAGCAGCTACATAGCAGAACATTTTAAGAGATTCTGTTAGCCCACATGTTCATGTTGGTTGCTGCTGAATGGTAAATATTAAATAAAATTACCAGATTAATCTTAA)$ MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQ|VEMSPLENAIEVLENKNQQLKTLISQCQTRQMQNINPLTMCLNGVIDAAVNGGVSRYQEAFFVKEYILSHPEDGEKIARLRELMLEQAQILEFGLAVHEKFVPQDMRPLHKKLVDQFFVMKSSLGIQEFSACMQASPVHFPNGSPRVCRNSAPASVSPDGTRVIPRRSPLSYPAVNRYSSSSLSSQASAEVSNITGQSESSDEVFNMQPSPSTSSLSSTHSASPNVTSSAPSSARASPLLSDKHKHSRENSCLSPRERPCSAIYPTPVEPSQRMLFNHIGDGALPRSDPNLSAPEKAVNPTPSSWSLDSGKEAKNMSDSGKLISPPVPPRPTQTASPARHTTSVSPSPAGRSPLKGSVQSFTPSPVEYHSPGLISNSPVLSGSYSSGISSLSRCSTSETSGFENQVNEQSAPLPVPVPVPVPSYGGEEPVRKESKTPPPYSVYERTLRRPVPLPHSLSIPVTSEPPALPPKPLAARSSHLENGARRTDPGPRPRPLPRKVSQL* 05CO050 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 4 0 312 28 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGA)GGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO053 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 19 19 0 91 96 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(1),inconsistently_clipped(1) CGAGAGTGAAGACCAAACATTAGAACCAAAGATTCTCCTAGCACCCCTGTAACTCAGGAAATTACAAGGGTGTTGGGAGCTCTAGGCCAGAGACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAG(ATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 05CO053 ENSG00000119685.20 ENSG00000238139.2(78141),ENSG00000242482.3(17244) +/+ ./- chr14:75683656 chr1:67639587 CDS/splice-site intergenic translocation 0 30 3 90 49 high out-of-frame . Tubulin-tyrosine_ligase_family(100%)| . . ENSG00000119685.20 . ENST00000298832.14 . downstream downstream duplicates(3),mismatches(1) ^(GGGCGGTTGCTTGTTGGTTGTTGTAGTAACCGGGGAAGCAGCCGTCGGCGGCTGCCCTGAGCCTTCCTGGGGAAGGAGGAGGGAGGTAGGCGCAGAGCGCGGTCCACGCCTGCTCGCCCCGAACCATGGGAAGATGAGACAG___GAATCTGTGCCATCCAAATTGCTTGATCCAGTGAATCTGCTAGGAAAGGTCTCTGAGGCCCCCGTCTGCTGACTGCATGACAAACCCTAAAGGAAATGCCAATCGTGATGGCCCGGGACCTGGAGGAAACAGCATCATCCTCAGAGGATGAGGAGGTCATAAGTCAAGA___GGATCATCCATGCATCATGTGGACTGGAGGCTGCAGGAGAATTCCAGTTTTGGTATTCCATGCCGACGCTATTCTTACAAAGGACAACAATATTAGAGTAATTGGAG___AACGTTATCATTTGTCTTATAAGATTGTACG)AACGGACAGTCGCCTAGTACGCAGCATTCTGACAGCCCATGGATTTCATGAA___GTTCACCCAAGCAGCACTGACTATAACCTAATGTGGACAGGATCCCACCTGAAGCCCTTCTTACTGCGCACCCTCTCTGAAGCACAAAAAGTTAATCACTTTCCCAG|GTTTTTCAGACTTCCTGACATGGCAACTGGCTTCAAAGAGAGCGGAAATGGAAGTTGCCAGCGTTCTTAAGAC___GTTGATGTTTTTCAAGTTCATTTTGAAATTCCCTTCTCTTTCTTTATTCAAGAAGATCAACACACAGCTAATCATCACCACAAAGAGTACTGCAATCAATATAAGAATACCTACCCTCCCTGGTACAAGCCAAGGCTGGCTTCCCAGGAATCCTCAGGGTTTGCCAGCCTTTGTGCCTGTGCCCCACTTCCCTCTTGAGGTGTGGCTCTTGGACTGAAAGGGCGTGACCATCTTTGGGATCCACTTTTGAAATCCTACAGCTTTCTGCAATTTGTTTTTATAAAATCACATTATGCATCTTGAGAAATATT MPIVMARDLEETASSSEDEEVISQEDHPCIMWTGGCRRIPVLVFHADAILTKDNNIRVIGERYHLSYKIVRTDSRLVRSILTAHGFHEVHPSSTDYNLMWTGSHLKPFLLRTLSEAQKVNHFPr|ffrlpdmatgfkesgngscqrs* 05CO053 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 12 2 31 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 duplicates(1),low_entropy(1),mismatches(1) CGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO053 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 1 0 196 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(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCAT)GAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO053 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 5 0 26 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTG)TACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05CO053 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 12 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),mismatches(1) CGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGC(CTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO053 ENSG00000198121.13 ENSG00000157657.14 -/- +/- chr9:111036122 chr9:113968069 5'UTR/splice-site intron duplication/5'-5' 7 4 0 17 10 high . . . . . ENSG00000198121.13 ENSG00000157657.14 ENST00000541779.5 . upstream downstream . GGAACAGCTCCTGCCCAGGTCTGTGGGCACTCAGCATGGATTTCAGTCTCCCTGTGAGTGATGGGAAAGAACTAACAGAG|GATTGCGGATGAAGGACTGAGGACCTGAAATAAAACACCTTTTGATGAGTGCTTACGAGAAGTTGCAAACTGGCAAAATCAGATGGCGGACTTCGATTCAAACAAATCGGCAATGTATAAAAAaAAAA . 05CO053 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 18 15 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCT(ACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO053 ENSG00000141646.14 ENSG00000267586.7 +/+ +/- chr18:51078425 chr18:42579300 CDS intron inversion/3'-3' 21 22 0 41 41 medium out-of-frame . MH1_domain(100%),MH2_domain(100%)| . . ENSG00000141646.14 ENSG00000267586.7 ENST00000398417.6 . downstream downstream duplicates(1),inconsistently_clipped(1) ^(AACAAAATCCACTCACACTTGCAACGCCTGGCAAGGCTCTTCAATATGTGATTCCTTGACTGTCCTGTGCGTCTCTCGAGTGTAAACACCTCTGGGGCTCGTGATTCGGGGCTGCCAGAAAGAGAAGGAAG___GTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGAGAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCTATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAG___GTGGCTGGTCGGAAAGGATTTCCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGACTTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTG___ATCTCTCAGGATTAACACTGCAGAGTAATG___CTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAAACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGCACTGCCAACTTTCCCAACATTCCTGTGGCTTCCACAA___GTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATA___ACAGCACTACCACCTGGACTGGAAGTAGGACTGCACCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACATTACT___GGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTG___CTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAG___GTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGTGCACCTGGAGATGCTGTTCATAAGATCTACCCAAGTGCATATATAAAG___GTCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCA)GGATCAGTAGGTGGAATAGCTCCAGCTATCA___GTCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGAAACACCTTGCTGGATTGAAATTCACTTACACCGGGCCCTCCAGCTCCTAGACGAAGTA|TCTTGACTTAAATACTGTGCTGGCCATTAGTAGTCTCATCAACACACAGAATAGGAAGAGTAGATTTGCATTCTAGTGATCATGAGTCAAGTGAACATAGAACTTTTAAGAGACAAGTCAGGTTGAGAGAAATGCCATATATGAAACTTACTAAATTTAATTCTGAAAAAAAGTTCAAACTTTATAAAAGTGTACAG MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEV|s* 05CO053 ENSG00000116731.22 ENSG00000162493.16 +/+ +/+ chr1:13749487 chr1:13580835 CDS/splice-site 5'UTR duplication 0 8 0 14 13 medium out-of-frame . SET_domain(100%)| . . ENSG00000116731.22 ENSG00000162493.16 ENST00000376048.9 ENST00000294489.10 downstream upstream duplicates(1) ^(GCGAAACAGCGGCGGCGGCGGCGGCCCTCGGTGCTCTGAGGCGCTGGCGCGGCGGGCGCGG___GGTTCATGTAATCAAAGAAGTTTCTTTGTTGTGTGTATCTTTACAGAACACAACAGGAATTGAAAATGAATCAG___AACACTACTGAGCCTGTGGCGGCCACCGAGACCCTGGCTGAGGTACCCGAACATGTGCTGCGAGGACTTCCGGAGGAAGTGAGGCTTTTCCCTTCTGCTGTTGACAAGACCCGGATTG___GTGTCTGGGCCACTAAACCAATTTTAAAAGGCAAAAAATTTGGGCCATTTGTTGGTGATAAGAAAAAAAGATCTCAGGTTAAGAATAATGTATACATGTGGGAG___GTGTATTACCCAAATTTGGGATGGATGTGCATTGATGCCACTGATCCAGAGAAGGGAAACTGGCTGCGATATGTGAATTGGGCTTGCTCAGGAGAAGAGCAAAATTTATTCCCACTGGAAATCAACAGAGCCATTTACTATAAAACTTTAAAG___CCAATCGCGCCGGGCGAGGAGCTCCTGGTCTGGTACAATGGGGAAGACAACCCTGAGATAGCAGCT)GCGATTGAGGAAGAGCGAGCCAGCGCCCGGAGCAAGCGGAGCTCCCCCAAGAGCCGGAAAG|AAGCAGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCACCTCAAGTGATCCTCTCGCCTCTGCCTCTCAAAGCATTAGGATTACAG___GAGAGCAACAACTCAACGGGAACGATGTGGAAGGTGTCAGCTCTGCTCTTCGTTTTGGGAAGCGCGTCGCTCTGGGTCCTGGCAGAAGGAG___CCAGCACAGGCCAGCCAGAAGATGACACTGAGACTACAGGTTTGGAAGGCGGCGTTGCCATGCCAGGTGCCGAAGATGATGTGGTG(ACTCCAGGAACCAGCGAAGACCGCTATAAGTCTGGCTTGACAACTCTG___GTGGCAACAAGTGTCAACAGTGTAACAGGCATTCGCATCGAGGATCTGCCAACTTCAGAAAGCACAGTCCACGCGCAAGAACAAAGTCCAAGCGCCACAGCCTCAAACGTGGCCACCAGTCACTCCACGG___AGAAAGTGGATGGAGACACACAGACAACAGTTGAGAAAG___ATGGTTTGTCAACAGTGACCCTGGTTGGAATCATAGTTGGGGTCTTACTAGCCATCGGCTTCATTGGTGCAATCATCGTTGTGGTTATGCGAAAAATGTCGGGAAGGTACTC___GCCCTAAAGAGCTGAAGGGTTACGCCCTGCTGCCAACGTGCTTAAAAAAAGACCGTTTCTGACTCTGTGCCCTGTCCCTGAGCTCGTGGGAGAAGATGACCCGTGGAACACTTGCCTGGCCCACTCAGAATCCACGGTGACCTCTCCGCTTGCCAAAATAACCGAAGGAAAGACCGTTCACCAGACTTGGCTCCTCTAAACATTTGCTGTTCAAACATGTTTTTGAATATACATTCTATAAAAGATTATTTGAAAGACAAAATTCATAGAAAATGGAGCAAAACTGTATAAACTGATTTGTAACTAACACTGGACCATTGGATCGATATTATATGCTGTAACCATGTGTCTCCGTCTGACCATTCTTGTTATTGTTAAAATGCAGAGGAATCTGGAAATATTTATATCCACGGAGTCCTTGGATCCAGTGCTACGTCAGTAAATAGCACCAGCATTTTGCAATTGCTGATCTGCTGAAATGTACACATTCTGGTCTAGTTTGGTCTATCTTTTAAAGCCTGATCTGGTGTGAATAATCAACTAGGAAATCTAAACTTGGATAACACGTGGTGAACAACTGCCTTTAGCTGGTCCAGATTAATCATTTCAAAGACATCCATTTTAGATCACAAGCAGGAAGTCGATAGTCTCAAAGGCACTTTGTTTCTCCCAAGTAGGCCACCAGGCAGCCTCTAGAGTTGCTTTACCCAAATCCTTCTCCAGCCATGACTTGGTGACTCTAAGCTTGCTCCCACCTGCCCCCTCCACTTCCCTCAGATGATGAGGAGCCAGGGCTAAGGGGGCAGCCTTCTCTCTTCCCAGTGATGCACATCCTTCACATTGGCTGCTTTGTTCTGGAATATGGATATCTCAGCCTGGATGCCGAGGAAGCTGCTGGATGCTTAATGGTGCTAGAGGCTCAAGTGTGTTTGAAACCAAGAGCCAGTTGTCCCCCATGCAGAAAGAAATCCTGTGTGAGCCTCTGGTATGAGAAATAAAATCTGCCAGTTTTATAACATTCACTTTCTGCCTCTGAGGAAAGATACAGGGAACAAAAATCAATTTGTACAGTCTTAATATTAAAAGCAGCTTGACTAAATACCTGATTTAAAAATAGAAGACATCCCCAGTCCTCATGACATACCGCAAATATCTGTGGGGTCCTGTTGAAAAGAACAAAATAAAGGAGCCCAAGGGGTCATTCTGTCTCAGCACCATCCAGCCTGGCACTTCTCTTCCCATATATCCATTGGATTTTTTTTTTTTTTTCCTAAACAAAGTTTTTACACTGAGCAGATGCTCTGTCATGATGGCGGTTGTGCAATTCTGGTATCCTCTAAATTTGTAAGCATTCATAAAACAGGAAAAAGTAAACTATCATTCGGAAGCACAGCCCATTCCTCCCATTTTTTGCAATGATGTCTGGATGTTATTTTAAACAGTGTGTCTGTGTGTTCCCAAATCCAGCTGGCCCCACCAGCTCAGATTCCATTTTTTTTGTGTGTGTGTGTGAAACGTAGTCTGCAACTCTGCCTCCCGGCAATTATACATGTGTCAGGATGTCAAAAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTTCCTACCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATCGGCGAGGATGATCTCTATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGTGCCACTGCGCTCGGCCTCAGATTCCATATTTGAACACCAGCTGATTGAGAGAAGGGGAATGAGAAGAGCTGGATGAGTTTAAATAACTCATTGTTCAGATTCCTGAACAGGAGTTGGGATAATGGCCATCTTTTCTTTCCTATCCTTTCTTCCCCCCTCACTGTGAAAAATAACAGTCCACCCCAAGTCATACACTGGACCCAGTGCCTGCGGGGACAGGACTGTGGGTTTCTTGGTCACACCTGTGTTGGTGCTCAATGCAGTGTAGACATGTTTTCAAATAAAACAAATGATTGTGTACAA)$ MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLRYVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRK|eagscyvaqaglklltssdplasasqsiritgeqqlngndvegvssalrfgkrvalgpgrrsqhrparr* 05CO053 ENSG00000145675.15(264),ENSG00000251044.2(72680) ENSG00000145675.15 ./- +/+ chr5:68302085 chr5:68299004 intergenic 3'UTR inversion 4 2 0 9 22 medium . . . . . . ENSG00000145675.15 . ENST00000521381.6 upstream upstream . CGGACATGGTGGCGGGCGCCTGTAGACCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTAAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGAT|CACTTTGATTTGCTAGTTGTTATCAATTAATGACAATTACAAACCTACTGTATCTCTAATACAGTGTGACTGGTCAGGTATTTCAGTTCTTAGGAAGGAAGTGCCAAGTTTGTTTTTGGGTTCCTGGAACAGCGCTCACCTTTGTTTAGAACACTGGTTTAAAGGGATAATCATCTCTGTCACATTAGACTATCCATCATGACCAGCAAATACTCATTTTAGGAAAAAAAA(AAGCATGATCTGAAAAATACTTTTGGTGGTATGTTGGTTACCCTCCTAGCTTTCCATTTGGTTTAGAACATAAAGCAAATAGACACAGTCATACTGTCACTGCTCTGGACTGTGTGGAGCTCGCTAAAGTCATGGTCATTGCAGGAATCCAAGTGGCAGTCCTTCTCATTCATTCTAATCATTGTATGTGCTTCACTACGGGGGGGAGAAGGAAACGTTAGCATCATGTTTCCCATTTAGGGCAGGAGTGAGAGGTCTCTCTTCCTGATTTAGATATGCAAAAGCTGGTATGTTCAGTAGGAACTGTACATGTGTTGGGAGGCATAAAGACTAATTAGCAACCATAATATGGTCACTACCCTAATAGACTAAATGAAATCTTGCAATTTCAAATTACTCTTTCTCCATATTAGATTTACCCACAGCTATATTTCTGTTTAAGTACTAGGGTGAGGGTTTTCTGTTACTTTGTTTTTTAATGTTGTTCCTTTTGAAAGAATCAGTCTTGCAGCTGAGTGAAAAATCTGTGGAATGTATTATTTGTCCTCTTTACATGAAACTACTCATACTTAAGCAAAAGTCAGTCTTATAGCAAGACTGTTAGCCCTCAAACTTGACTCTACTGATCTGACCATTTCCCTCTCATCGCCAGACAACTGACGATTTCCCTGGTTTTAGTCTGCGTCTCTGCTTTAAAGTTATTGTGATATCCTTCTAGATCATACACAAGTCTAACAGTTAATTAGTTAACAGTTTTTAAACTAGGTTTGTGGGTATTTTTTTGGTAGCACATGTATGCTATTACATACAAATTTTTATTTCTAAAATATAAGATCTGAGATTGAATATTTTCATTAAAAGCTACAGTTTTGTGAATCTTTGTGCTTCAACATTCTTTGCAAGATGATACGGTATTTAGGCATTTGCCTTATTTTTGCATCTCACAAACATAAGTGCAATAGATCTTTTCATTGAACAGCAAAGTAGGATTCATCATTCCATATGACTTGAGTTACACCAGACCTGTTCTGCCCAATGCCTTTTTGATTACAGTGTAGCTTGCCCACCGCATTTGTCGTTTTAGATACTTTGCTAGCCGGCCACTTTGGATTTCATCAGACAGTCCTAACAATATTGTCTGAACGGCTGAATATGAATAGATACAGCAGAGGCACTCCTGATATATGATTTTTATCCATGCGTCAGTTTTTCCCACCCAGTGTAGCATCCTAAAGATAAAGCCAGAAGCTAAGCTGCAGTGAGGCTGTGATTGGGCGTAGAAGTGGGAGCATTGGGACCTCACATTACACACACGAGAGATCATAACCATGTGAAAAGGCAAAAAGCATGTGTTTGCAACATCTGATAACTTCATGGCCTTTGATAAATGTATATATGTATATGTGCATGGACTGTGTTTCCAGTACACCTTTCAGCCAAAACAGATCCACAGTAGTTGTTGAGTTCAAGTACATAAAGTACATAACAAGCGAACGTCTAGTACAATTCTTACTTATGTGTATGGGATTTTTCCCTTTGAGGTTGCTTTGTTTTGTCTTACAAAGGTGAAAATTGTTTGTAAGTGAAGTGAGAAGTTCATATTTCTTTGGCTTTTTTGTGTTTTTAAAAGTTACTCCTTTTAGGGAGCTGGTCTGATGACTTGCTTAGCTTGGAAATCCTTGTTTTCAGTGTGTCGAGTCAAAATGTGTTTATGTGAGCTGTCACTGTGGGGAACCAATTGCTTTGTCATATAGCTGGTTATGAACTAGTAACATGTTTGGGAAGTCCTACTGATGTTCCTTTGGAAGAAAAAATCTGCTGGTTTTAACAACTGTGCTTTTGCTATGTATGGTATCCAAGTTAGTTGAAACGCAGACACTGAGATCTGTTTGAGTTTAGGGTCATTTTTAGAAAGGGGCAGTTTAAAGCACAATGTCTCACATGGGACAAAGTTCCAAAATGCCAAATTCTTATTTTTTAAAAAGCTAGTTCTATAAAATACTGGTATTATGGGTGGGGAGGAAATAGAATTGAGTCAATTGGAAAGACTATCCAACTTAACATGAAACTTGTCACCATGAGATAGCATTAGCTGCCCAGGATGCTGCTATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATGTGTGTGTATATATATATATATGTGTATATATATATGTATATACATATATGTATATATATGCACATATATATATGTATTTAAAAAAATCAAAACAAAAAAAAACTCATTTATACCTGTGTATTTTTTAAAGCTACAATCTGTTCAATGTTTTTAAAAATCTGTTTATATGACATTGTTAAAATAAAGTTGGTCTTTTGACGAGAGGGAGGATGTCACGGTCAGTTGTAACTTTGCCTTCACAAGGCAACTGGGGTGGGGGGTGGGGGTAGTGTGCCTCCTTGACATTTCGTTCAAGTTATAGATTCAATGGAGCTATGTCTTGTTTTAAGTTGCTTTAATGCATTGTATTAGATCTTCAAACAGAATAAAGGTTGTTTTGAAACTGAA)$ . 05CO053 ENSG00000171862.11 ENSG00000197467.15(34682),ENSG00000224222.2(796) +/+ ./- chr10:87931089 chr10:69993830 CDS/splice-site intergenic inversion 0 2 0 63 27 medium out-of-frame . . . . ENSG00000171862.11 . ENST00000371953.8 . downstream downstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGA)TGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG|GCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGATGGAGTCTCG MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCR|gwtvllpsrltatslpdspasacrvpaiagahrha* 05CO053 ENSG00000116731.22 ENSG00000215909.3(25141),ENSG00000162493.16(2630) +/+ ./+ chr1:13749487 chr1:13580835 CDS/splice-site intergenic duplication 0 2 0 14 13 medium out-of-frame . SET_domain(100%)| . . ENSG00000116731.22 . ENST00000376048.9 . downstream upstream . ^(GCGAAACAGCGGCGGCGGCGGCGGCCCTCGGTGCTCTGAGGCGCTGGCGCGGCGGGCGCGG___GGTTCATGTAATCAAAGAAGTTTCTTTGTTGTGTGTATCTTTACAGAACACAACAGGAATTGAAAATGAATCAG___AACACTACTGAGCCTGTGGCGGCCACCGAGACCCTGGCTGAGGTACCCGAACATGTGCTGCGAGGACTTCCGGAGGAAGTGAGGCTTTTCCCTTCTGCTGTTGACAAGACCCGGATTG___GTGTCTGGGCCACTAAACCAATTTTAAAAGGCAAAAAATTTGGGCCATTTGTTGGTGATAAGAAAAAAAGATCTCAGGTTAAGAATAATGTATACATGTGGGAG___GTGTATTACCCAAATTTGGGATGGATGTGCATTGATGCCACTGATCCAGAGAAGGGAAACTGGCTGCGATATGTGAATTGGGCTTGCTCAGGAGAAGAGCAAAATTTATTCCCACTGGAAATCAACAGAGCCATTTACTATAAAACTTTAAAG___CCAATCGCGCCGGGCGAGGAGCTCCTGGTCTGGTACAATGGGGAAGACAACCCTGAGATAGCAGCTGCGATTGAGGAAGAGCGAGCCAGCG)CCCGGAGCAAGCGGAGCTCCCCCAAGAGCCGGAAAG|AAGCAGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCACCTCAAGTGATCCTCTCGCCTCTGCCTCTCAAAGCATTAGGATTACAG MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLRYVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRK|eagscyvaqaglklltssdplasasqsirit 05CO054 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 27 25 0 64 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(3),low_entropy(1),mismappers(2),mismatches(3) GGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___...AAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGG?GG___GGACATCTTCATCACC?GCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGAC(AGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO054 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 7 12 0 19 30 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(2) CGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGAC(ACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05CO054 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 9 7 0 131 25 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(2) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTT)CCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAA MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 05CO054 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 12 0 18 63 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . CCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGC---------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05CO054 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 18 16 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1) AGAAGCAGGAAATCCCAGAGCTTCAAACTG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTAC(CACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05CO054 ENSG00000105127.9 ENSG00000257515.1(17788),ENSG00000080371.6(26701) -/- ./- chr19:15368235 chr12:71728162 CDS/splice-site intergenic translocation 2 1 0 59 13 high out-of-frame . . . . ENSG00000105127.9 . ENST00000269701.7 . upstream downstream . ^(GCATGCGTGCTGTGGTCGCCTAGTAAACGGGGCTGCTGGTGGGCCGCGTCGAAGACATGGACCAGGGCTACGGAG___GCTACGGGGCGTGGAGTGCTGGACCTGCCAACACCCAGG___GTGCATATGGAACTGGTGTGGCCAGCTGGCAAG___GTTATGAAAACTACAATTACTATGGCGCCCAGAACACCAGTGTCACCACAGGCGCAACCTACAGCTACGGCCCAGCCTCGTGGGAGGCCGCCAAGGCCAATGATGGCGGCCTGGCGGCCGGGGCCCCTGCCATGCACATGGCCTCTTACGGCCCAGAGCCATGCACCGACAATTCCGACTCCCTCATTGCCAAGATCAACCAGCGTTTGGACATGATGTCCAAGGAAGGAGGCAGGGGCGGGAGCGGCGGCGGTGGGGAGGGCATACAGGACCGGGAGAG___CTCCTTCCGCTTCCAGCCGTTCGAGTCCTATGACTCCAGGCCCTGCCTGCCGGAGCACAACCCCTACCGCCCCAGCTACAGCTACGACTATGAGTTCGACCTGGGGTCCGACCGCAATGGCAGCTTTGGGGGGCAGTACAGTGAATGCCGAGACCCAGCCCGGGAGCGGGGCTCCCTTGATGGCTTCATGCGGGGCCGGGGCCAGGGCCGCTTCCAGGACCGGAGCAACCCTGGCACCTTCATGCGCAGCGACCCCTTCGTGCCCCCCGCTGCGTCCTCTGAGCCCCTGTCCACGCCCTGGAACGAGCTGAACTACGTGGGTGGACGGGGCCTGGGAGGGCCCTCCCCCAGCCGGCCACCTCCGTCCCTCTTCTCCCAGTCCATGGCTCCCGACTACGGCGTGATGGGCATGCAGGGGGCGGGCGGCTATGACAGCACCATGCCCTACGGATGTGGCCGCTCGCAGCCTCGGATGCGGGATCGGGATCGG___CCCAAGAGGAGAGGGTTTGACCGCTTCGGACCAGATGGCACGGGCAGGAAACGGAAGCAGTTCCAACTTTACGAGGAGC)CAGACACCAAACTGGCCCGGGTTGACAGTGAAGGAGATTTCTCCGAAAATG___ATGACGCAGCTGGTGACTTCCGCTCAGGAGATGAAGAATTCAAGGGT___GAGGATGAACTCTGCGACTCTGGGAGGCAAAGAG___GAGAGAAGGAGGACGAGGACGAGGATGTGAAGAAGAGAAGGGAAAAGCAAAGGAGAAGAGACAGGACGCGGGACCGTGCAGCCGACAG|CTCCTGCTTTGCCTTCCGCCATGAGTCAAAGCTTCCTGAAGCCTCCCCAGAAGCAGATGCCTGCACTATGTGTCCTGTACAGTCTGCAGCACTG MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASYGPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGSDRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSPSRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLARVDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADs|scfafrhesklpeaspeadactmcpvqsaa 05CO055 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 24 20 0 55 57 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) GCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05CO055 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 27 14 0 205 85 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAA)GCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05CO055 ENSG00000267881.2 ENSG00000007306.15 +/- -/- chr19:41742644 chr19:41687221 intron CDS/splice-site deletion/read-through/3'-3' 15 10 1 165 150 high . . |Immunoglobulin_V-set_domain(100%),Immunoglobulin_domain(100%) . . ENSG00000267881.2 ENSG00000007306.15 . ENST00000006724.7 upstream downstream duplicates(1) GCAAGTTCTTCTAGATAGGTGCTCCATGACGGGTCTCTCCTCAAGAGTTGACAGTTGATCAGCAGACCATAGCATACCTGCCATGGACCTTTCATCTTTAGGGGATTGCCTTAGAACTTCCATCCTGGGCCACCTCGGAACTCACACACTTTCGGAGGGTGCGTCAGAAGCATATCCAG|CCTCGCTTTTAACCTTCTGGAACCTGCCAAACAGTGCCCAGACCAATATTGATGTCGTGCCGTTCAATGTCGCAGAAGGGAAGGAGGTCCTTCTAGTAGTCCATAATGAGTCCCAGAATCTTTATGGCTACAACTGGTACAAAGGGGAAAGGGTGCATGCCAACTATCGAATTATAGGATATGTAAAAAATATAAGTCAAGAAAATGCCCCAGGGCCCGCACACAACGGTCGAGAGACAATATACC(CCAATGGAACCCTGCTGATCCAGAACGTCACCCACAATGACGCAGGAATCTATACCCTACACGTTATAAAAGAAAATCTTGTGAATGAAGAAGTAACCAGACAATTCTACGTATTCT___CGGAGCCACCCAAGCCCTCCATCACCAGCAACAACTTCAATCCGGTGGAGAACAAAGATATTGTGGTTTTAACCTGTCAACCTGAGACTCAGAACACAACCTACCTGTGGTGGGTAAACAATCAGAGCCTCCTGGTCAGTCCCAGGCTGCTGCTCTCCACTGACAACAGGACCCTCGTTCTACTCAGCGCCACAAAGAATGACATAGGACCCTATGAATGTGAAATACAGAACCCAGTGGGTGCCAGCCGCAGTGACCCAGTCACCCTGAATGTCCGCT___ATGAGTCAGTACAAGCAAGTTCACCTGACCTCTCAGCTGGGACCGCTGTCAGCATCATGATTGGAGTACTGGCTGGGATGGCTCTGATATAGCAGCCTTGGTGTAGTTTCTGCATTTCGGGAAGAGTG___TTTTTATTATCCACCTGCAGACTGGACTGGATTCTTCTAGCTCCTTCAATCCCATTTTCTCCTGTGGCATCACTAAGTATAAGACCTGCTCTCTTCCTGAAGACCTATAAGCTGGAGGTGGACAACTCAATGTAAATTTCAAGGAAAAACCCTCATGCCTGAGATGTGGGCCACTCAGAGCTAACCAAAATGTTCAACACCATAACTAGAGACACTCAAATTGCCAACCAGGACAAGAAGTTGATGACTTCATGCTGTGGACAGTTTTTCCCAAGATGTCCCAAGCCTCATCGTGACGAGGCTCTTATCCCACTCCATTTTTCCCTGCTCATGCCTGCCTCTTTAATTTGGTAAGATAATGCTGTAACTAGAATTTCACAATCAGCGCCTTGTGCAGGTAATTTGACAGAGTGTTGGATGTGTCATGTCATCATGTCAAACCCAAATATTTGACCTAAGGGATCCTTTATTCTGCCCAGTGGCTAACTTTAACAACATCCCTAATACAACTGTTTATTCAAATGCACGGTGGTCCCTGTTAGAGTTAGACCTCTAGACTCACCTGTTCTCACGCCCTGTTTTAATTTAACCCAGCTATGGGATGCCAGATAACAGAATTGCTGCCTACTAGCTGAACAGGGAGGAGTTTGTGCAGTTGCTGACACTTCTTGTTGCACATAAATAAATACAGTGGGTACTATAGAGACTCAGTTGCAAAAATTAACAAATATGCTGCTTGATTAAAATGGGTAGGCTTCTCATGTGGCTCATTCTTTAATCTATTCTCTTTTATTTGGTTTGGTTCATGGGGTCTCTGCCTATGGATCATACTTCAAACTCTTGGTGTGATCCTCCTGATTGTCACAATATTAGTTACCCTGGTGTGCTGTATTCTCTAAAACCTTTAAATGTTTGCATGCAGCCATTCGTCAAATGTCAAATATTCTCTCTTTGGCTGGAATGACAAAAACTCAAATAAATGTATGATTAGGAGGACATCATAACCTATGAATGATGGAAGTCCAAAATGATGGTAACTGACAGTAGTGTTAATGCCTTATGTTTAGTCAAACTCTCATTTAGGTGACAGCCTGGTGACTCCAGAATGGAGCCAGTCATGCTAAATGCCATATACTCACACTGAAACATGAGGAAGCAGGTAGATCCCAGAACAGACAAAATTTTCCTAAAAACATGAGAGTCCAGGCTGTCTGAGTCAGCACAGTAAGAAAGTCCTTTCTGCTTTAACTCTTAGAAAAAAGTAATATGAAGTATTCTGAAATTAACCAATCAGTTTATTTAAATCAATTTATTTATATTCTTCTGTTCCTGGATTCCCATTTTACAAAACCCACTGTTCTACTGTTGTATTGCCCAGTAGGAGCTATCACTATATTTTGCAGAATGGAAACTGCCCTGACTCATGAATCACAAATAAAAGCCAATTGTATCT)$ . 06CO001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 18 0 38 58 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) GCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAG(TAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 06CO001 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 14 0 33 29 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCA(GGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 06CO001 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 13 0 25 72 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1),mismatches(2) GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 06CO001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 5 0 153 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(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGC)GTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 06CO001 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 7 0 55 24 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTT)GTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 06CO001 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 7 3 0 861 19 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCG)GGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 06CO002 ENSG00000257743.8 ENSG00000186163.9 +/+ -/+ chr7:142158332 chr7:142268360 CDS/splice-site exon deletion/read-through/5'-5' 88 69 3 285 212 high out-of-frame . Galactose_mutarotase-like(100%),Glycosyl_hydrolases_family_31_(100%),N-terminal_barrel_of_NtMGAM_and_CtMGAM__maltase-glucoamylase(100%),Trefoil_(P-type)_domain(100%)| . . ENSG00000257743.8 ENSG00000186163.9 ENST00000477922.3 . downstream upstream duplicates(8),low_entropy(1),mismappers(4),mismatches(2) ^(TCCCTATGAATTGCTGAGGGAGAGATACAGCATAGAAAAAAACAAGGTGATGCG___ATGGCGAGGAAGCTCAGTGTATTGGAAGTCCTTCTGATCATCTTCTGCTTAATTGTGGTGACCATAGATATCCTCTTGCTGCTTCTTGTGTTGGAGGAAACTTCAG___ATACTTCATTTACTCCAGAGTGCCCAGAGATTCCCCAGTCGGAAAGGATAGACTGCACACCTGACCAGGAGGTGACCGAG___GATATCTGCAGATGGCAATATAAGTGCTGCTGGTCGCCTGTGGCAGATGCCAATGTCCCTAGGTGCTTCTTCCCCTGGAACTGGGGCTATGAAGCCAGCAATGGCCATACAAATACAAGCACAG___GATTTACTGCCCAGTTGAAAAGGTTGCCATCACCATCTCTGTTTGGAAATGATGTCGCCACCACCCTTTTCACAGCTGAATATCAGACATCCAATCGGTTTCATTTTAAG___ATCACTGACTTTAATAACATACGCTATGAAGTTTCCCATGAAAATATTAACCTGGTTGATGGGATTGCTGATGCCTCCAATTTGAGCTATTACGTGGAGGTTACTGATAAACCTTTCAGCATCAAAATAATGAGGACAAGCAACAGAAGAGTCTT___GTTGGACACGAGCATCGGGCCCCTCCAGTTTGCCCAGCAGTACCTGCAACTGTCTTTCCGACTGCCCAGTGCCAATGTGTATGGGCTGGGAGAGCATGTGCACCAGCAGTACCGCCACAATATGACCTGGAAGACTTGGCCCATCTTCACCCGGGACGCTACCCCCACCGAG___GGCATGATTAATCTGTATGGAGCTCATACATTCTTCTTGTGCCTTGAAGATGCCAGGGGCTCCTCTTTTGGAGTATTTCTGATGAACAGTAATGCCATGG___AGGTTACCCTTCAGCCAGCTCCTGCGATCACTTATCGCACGATTGGAGGCATTCTTGACTTTTACGTATTCCTAGGAAACACTCCAGAACAAGTGGTTCAGGAATACTTGGAG___CTTGTTGGACGGCCATTCTTCCCTCCCTATTGGAGTCTTGGGTTCCAGCTTAGTCGCAGGGACTATGGTGGCATCAATAAATTGAAAGAAGTTGTAAGCCGAAATCGTTTAGCTGAGATACCATAT___GATGTCCAGTACTCTGACATAGACTACATGGATGGAAAGAAGGATTTCACTGTTGATGAAGTCGCTTACTCTGGTCTCCCAGATTTTGTCAAGGAGTTACATGACAATGGACAGAAATATCTTATTATTATG___AATCCTGGCATCTCCAAAAACTCTAACTACGAGCCCTATAATAATGGAAGCCTAAAGAGAGTGTGGATCTTGGGGAGCAATGGCTTTGCTGTTGGGGAG___GGATATCCGGGACCGACAGTCTTTCCCGATTATACCAATCCAGTATGCACTGAGTGGTGGACAGATCAGGTCGCTAAATTTCATGATCATCTGGAGTTTGATGGAGTGTGGATT___GAAATGAATGAAGTATCTAGCTTACTCCAAGCTTCTAATAACCAGTGTGAATCCAACAACTTGAACTTTCCTCCTTTTCTTCCTA___GAGTTCTGGATCACTTACTTTTTGCAAGAACTCTCTGCATGGACACGGAGTTTCATGGGGGCCTTCATTATGACATCCACAGCTTGTATGGCCACTCCATGGCAAGAACCACAAACTT___AGCCCTGGAGACCATCTTCATGAATAATAGGAGCTTCATCTTATCCCGTTCTACTTTTGCTGGATCTGGCAAATTTGCTGCTCATTGGCTGGGGGACAATGCGGCCACATGGGATGACCTCCGATGGTCTATCCCCACTATCCTTGAGTTCAACCTGTTTGG)CATCaCCATG___GTAGGTGCCAACATCTGTGGTTATAACAACAATGTCACAGAGGAGCTCTGCAGAAGGTGGATGCAGCTTGGAGCATTTTATCCACTACCAAGGAATCACAATGGGCCTGGGTTCAGG___GACCAGGATCCCGCTGCCTTTGGTGTTGATTCCCTGCTGCTGAAATCCTCCAGACATTATCTGAACATCCGCTACACCTTGCTGCCCTATCTCTATACCCTTTTCTACCgTGCTCACACCCGGGGAGAGACGGTAGCAAGGCCCCTTGTACATGA___GTTCTACCAGGACTCAGCCACGTGGGATGTGCATGAGCAGTTCTTATGGGGACCTGGACTCCTCATCACGCCTGTTTTATATGAA|AGCACGTGCATTGTTCTGTAGCCACCAGAGAGAGATTTAAACCTGATTAATAGATCCAGGACAACTTGCTTGAGTGAACATAACTTTTGCAGTATAATCAATGTCAGCCTTCACTTCTTAAAACCAGCTGATCAGGATCAGAGGTCCTCTGAAAAACACGCCTCAGAGCACCAATCAATCAACAGCAATCCCCCTGAAGTAGCCAGGCCTCAACAGATGATGGAACCCATTCATACCTCTGAAAGTCCTCCAATCCCTCAACTCCAAGCTTCCCACAAAC...___CCTGAAGTAG MARKLSVLEVLLIIFCLIVVTIDILLLLLVLEETSDTSFTPECPEIPQSERIDCTPDQEVTEDICRWQYKCCWSPVADANVPRCFFPWNWGYEASNGHTNTSTGFTAQLKRLPSPSLFGNDVATTLFTAEYQTSNRFHFKITDFNNIRYEVSHENINLVDGIADASNLSYYVEVTDKPFSIKIMRTSNRRVLLDTSIGPLQFAQQYLQLSFRLPSANVYGLGEHVHQQYRHNMTWKTWPIFTRDATPTEGMINLYGAHTFFLCLEDARGSSFGVFLMNSNAMEVTLQPAPAITYRTIGGILDFYVFLGNTPEQVVQEYLELVGRPFFPPYWSLGFQLSRRDYGGINKLKEVVSRNRLAEIPYDVQYSDIDYMDGKKDFTVDEVAYSGLPDFVKELHDNGQKYLIIMNPGISKNSNYEPYNNGSLKRVWILGSNGFAVGEGYPGPTVFPDYTNPVCTEWWTDQVAKFHDHLEFDGVWIEMNEVSSLLQASNNQCESNNLNFPPFLPRVLDHLLFARTLCMDTEFHGGLHYDIHSLYGHSMARTTNLALETIFMNNRSFILSRSTFAGSGKFAAHWLGDNAATWDDLRWSIPTILEFNLFGItMVGANICGYNNNVTEELCRRWMQLGAFYPLPRNHNGPGFRDQDPAAFGVDSLLLKSSRHYLNIRYTLLPYLYTLFYrAHTRGETVARPLVHEFYQDSATWDVHEQFLWGPGLLITPVLYE|stcivl* 06CO002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 9 1 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(1),mismatches(1) CGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 06CO002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 10 0 40 24 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 06CO002 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 6 1 29 15 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CCTGGAGCGCAGCTGCCAG___...GTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTaTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGAT(CATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 06CO002 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 11 0 16 79 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) GGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGC(TATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 06CO002 ENSG00000198040.10 ENSG00000260945.1(30557),ENSG00000261555.1(253710) +/+ ./- chr12:133041482 chr16:17571542 CDS/splice-site intergenic translocation 2 1 0 64 3 high out-of-frame . . . . ENSG00000198040.10 . ENST00000392319.6 . downstream downstream . ^(ACTCTTGGTAATGCTTGCAGGTGGCCCGTTCTTCCTCTTTGTCCTTCGCTGCCACGTGAGAGGGGAGTGTACGCGTGTGCGCGCGTGCGAGTGTGCGCGTGTGCAGTCCCCGACTCGTCCCGGCCCGTTCGGAGCCGCCCGGGAGCGCACAAAGGCCGACGGTTTGGGCGCGTGCGCGGGACACGGGGGACGGGCGGTGTCACGTGATCGCGAGGCCGCGGGCGCGCGGGCGCGACTCGGCGGCGGCGTCTTTT___ATCCTGGTCCCTA)CAAATAAGCCTGCTCATGTGAGATAAGAAAGGAGTTCCTGGAACCAGGAATTCATTCTCAGTGTAGAAGACCTAGCTGAGACCTCACTCCACAGTTTTGGGGCAGAAaCAGAAGAGACGCACAGTAGAACCGATCTCAaCCTTGCTGATCATCTCGTACAGCAGCAGAAAATGACCATGTTACAG|ATTGCCTGTGGTTTTGCCATTACACCAGCCCCAGTCCCAGTTCTCCTGCgATCACTGGAGCAtTAtGGT...GAGAATGCATCCTCCTTTCTGaGCGTCAGCTTTCTTGCCTGTAAAATGGGGAGACGATATCCTGCGTAGGAGTGCTGTGAGCTTGAAATAAG___GCTGGAGTACAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC MTMLQ|iacgfaitpapvpvllrslehy 09CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 20 19 0 44 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 . GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCT(GCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO005 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 9 10 0 32 31 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . GGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGAC(ATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 09CO005 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 20 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAG(AGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 4 0 158 26 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACA)CCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO006 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 12 10 1 33 29 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . GGGACAGCCACCTGGAGCGCAGCTGCCAG___AAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGG(ACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 09CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 11 1 24 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 low_entropy(1),mismappers(1),mismatches(1) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCT(GTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO006 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 7 4 0 1084 18 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream mismatches(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAG)CCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCgGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCT?TG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 09CO006 ENSG00000173575.22 ENSG00000068305.17 +/+ +/+ chr15:92974950 chr15:99706787 CDS/splice-site CDS deletion 2 0 0 17 26 medium out-of-frame . Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Helicase_conserved_C-terminal_domain(100%),SNF2_family_N-terminal_domain(100%)| . . ENSG00000173575.22 ENSG00000068305.17 ENST00000394196.9 ENST00000354410.9 downstream upstream . ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA___AGAAAAATGGAAACAGGAACCCTCAGAAGATGAACAGGAACAAGGCACCAGTGCAGAGAGTGAGCCAGAACAAAAAAAAGTAAAAGCCAGAAGACCTGTCCCCAGAAG___AACAGTGCCCAAACCTCGTGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAGCAAGATTCTTCTGATGAGGATGATGATGATGACGAAGCTCCCAAAAGGCAGACTCGTCGAAGAGCGGCTAAAAACGTTAG___TTACAAAGAAGATGATGACTTTGAGACTGACTCAGATGATCTCATTGAAATGACTGGAGAAGGAGTTGATGAACAGCAAGATAATAGTGAAACTATTGAAAAGGTCTTAGATTCAAGACTGGGAAAGAAAGGAG___CCACTGGAGCATCTACTACTGTATATGCGATTGAAGCTAATGGCGACCCTAGTGGTGACTTTGACACTGAAAAGGATGAAGGTGAAATCCAGTACCTCATCAAGTGGAAGGGTTGGTCTTACATCCACAGCACATGGGAGAGTGAAGAATCCTTACAGCAACAGAAAGTGAAGGGCCTAAAAAAACTAGAGAACTTCAAGAAAAAAGAGGACGAAATCAAACAATG___GTTAGGGAAAGTTTCTCCTGAAGATGTAGAATATTTCAATTGCCAACAGGAGCTGGCTTCAGAGTTGAATAAACAGTATCAGATAGTAGAAAGAGTAATAG___CTGTGAAGACAAGTAAATCTACATTGGGTCAAACAGATTTTCCAG___CTCATAGTCGGAAGCCGGCACCCTCAAATGAGCCCGAATATCTATGTAAATGGATGGGACTCCCCTATTCAGAGTGTAGCTGGGAAGATGAAGCCCTCATTGGAAAGAAATTCCAGAATTGCATTGACAGCTTCCACAGTAGGAACAACTCAAAAACCATCCCAACAAGAGAATGCAAG___GCCCTGAAGCAGAGACCACGATTTGTAGCTTTAAAGAAACAACCTGCATATTTAGGAGGGGAGAATCTGGAACTTCGAGATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATTCCTGGTGCAA___AAATAATAGTGTAATCCTTGCTGATGAAATGGGCCTAGGAAAGACCATCCAGACCATATCATTCCTCTCCTACCTGTTCCACCAACACCAGCTGTATGGCCCCTTTCTTATAGTCGTCCCTTTATCCACCCTCACCTCATGGCAGAGAGAGTTTGAAATCTGGGCACCAGAGATTAACGTAGTGGTTTACATAGGTGACCTGATGAGCAGAAATACG___ATACGGGAATATGAATGGATTCATTCCCAAACCAAAAGATTGAAGTTCAACGCACTTATAACAACATATGAGATCCTCTTGAAAGATAAG___ACTGTGCTGGGCAGTATTAACTGGGCCTTTCTGGGAGTGGATGAAGCCCATCGGTTGAAGAATGATGACTCTTTATTGTATAAAACTCTGATTGATTTCAAGTCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGTCCTTGCTGCACTTTATTATGCCGGAGAA___GTTTGAATTTTGGGAAGATTTTGAAGAAGACCATGGGAAGGGGAGAGAAAATGGCTACCAGAGTCTTCATAAGGTGCTAGAGCCTTTCCTTCTCCGGAGAGTCAAAAAAGATGTGGAGAAATCCCTTCCTGCTAAAGTGGAACAGATTCTCAGGGTGGAGATGTCAGCCCTTCAGAAACAGTATTACAA___GTGGATTCTGACCAGGAATTACAAGGCTCTTGCCAAAGGAACAAGAGGCAGCACATCTGGTTTTCTTAATATTGTGATGGAACTGAAAAAATGTTGCAACCACTGCTATCTGATTAAACCCCCTGAAGAAAATGAAAGGGAAAATGGACAGGAGATTCTTCTG___TCCCTCATAAGGAGCAGTGGGAAGTTGATTTTATTAGACAAACTGTTGACAAGACTTCGAGAAAGGGGGAATCGAGTG)CTTATCTTCTCTCAGATGGTGAGAATGTTGGATATCCTGGCTGAATACCTAACTATTAAACACTATCCTTTCCAG___CGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAG|CTGTGACAACCCCAAGCTTGCCTCCGCAAGGACTTGTGTACTCAGCAATGCCGACTGCCTACAACACTG___ATTATTC(ACTGACCAGCGCTGACCTGTCAGCCCTTCAAGGCTTCAACTCGCCAGGAATGCTGTCGCTGGGACAGGTGTCGGCCTGGCAGCAGCACCACCTAGGACAAGCAGCCCTCAGCTCTCTTGT___TGCTGGAGGGCAGTTATCTCAGGGTTCCAATTTATCCATTAATACCAACCAAAACATCAGCATCAAGTCCGAACCGATTTCACCTCCTCGGGATCGTATGACCCCATCGGGCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCACCACCGCAGCCCCAGCCACAACCCCCGCAGCCCCAGCCCCGACAGGAAATGGGGCGCTCCCCTGTGGACAGTCTGAGCAGCTCTAGTAGCTCCTATGATGGCAGTGATCGGGAGGATCCACGGGGCGACTTCCATTCTCCAATTGTGCTTGGCCGACCCCCAAACACTGAGGACAGAGAAAGCCCTTCTGTAAAGCGAATGAGGATGGACGCGTGGGTGACCTAAGGCTTCCAAGCTGATGTTTGTACTTTTGTGTTACTGCAGTGACCTGCCCTACATATCTAAATCGGTAAATAAGGACATGAGTTAAATATATTTATATGTACATACATATATATATCCCTTTACATATATATGTATGTGGGTGTGAGTGTGTATGTGTGGGTGTGTGTTACATACACAGAATCAGGCACTTACCTGCAAACTCCTTGTAGGTCTGCAGATGTGTGTCCCATGGCAGACAAAGCACCCTGTAGGCACAGACAAGTCTGGCACTTCCTTGGACTACTTGTTTCGTAAAGATAACCAGTTTTTGCAGAGAAACGTGTACCCATATATAATTCTCCCACACTAGCTTGCAGAAACCTAGAGGGCCCCCTACTTGTTTTATTTAACTGTGCAGTGACTGTAGTTACTTAAGAGAAAATGCTTTGTAGAACAGAGCAGTAGAAAAGCAGGAACCAAGAAAGCAATACTGTACATAAAATGTCATTTATATTTTCCAACCTGGCATGGGTGTCTGTTGCAAAGGGGTGCATGGGAAAGGGCTGTTGATATTAAAAACAAACAAAACAAAAAAGCCCCACACATAACTGTTTTGCACGTGCAAAAATGTATTGGGTCAAGAAGTGATCTTTAGCTAATAAAGAAAGAGAATAGAAAACACGCATGAGATATTCAGAAAATACTAGCCTAGAAATATAGAGCATTAACAAAGTAAAATTAATATATTAAGTTATAATTGGAATATGTCAGAAGTTTCTTTTTACATTCATATCTTAAAAATTAAAGAAACTGATTTTAGCTCATGTATATTTTATATGAAAGAAAACACCCTTATGAATTGATGACTATATATAAAATTATATTCACTACTTTTGAACACATTCTGCTATGAATTATTTATATAAGCCAAAGCTATATGTTGTAACTTTTTTTTAGAGAATAGCTTTATCTTGGTTTAACTCTTTAGTTTTATTTTAAGAGGGGAAAACAAAAATATCTTGCAAGCAGAACCTTGGAAAAAAAAAGCCATGAACACTTATTCTAAATGTAAATTAAAAGTTGAGCCAAACTCTTTGTGTATATAGCATCTTAAATATATTATCACCTTTGATGTAAGTACCTATGTATTGTATGGTCACCAGATTAAAAAGTATATTTTTGTGGATTGCCGCCAATCTGGGGGGAAAAGGCGAGGTCCTTTATTAAGTATTCACTGTTTAATATTTACTATTTTGTTAAATATACTGTACTTTGGATTTTAATTATTAGCCCAGTTTTTTCAGAGGATTGTATAAAGGGGTTTCTCCCCTCACTGGTGGTGAATGTGTGATGTTACATTGTAATCTTTGTGCTGTATGGGTTGAGCATCATTATATATTTTGTATGTGTACATAAATAGCAAAGTGGCAAAAAAAATTGGTGTTAAGTTCATCCTGCATAAGTATAAAATGTGTTGTAACAGATTTTGTAAGGCATTATTTAAAACTTGCCTTTTGTGAGGAAAAAATGTAGTAGAAAAAGCTGACCTAATTTAATTAATATTAGAGAAAATGGCAAAATAGTAGATGAGCACAAAGGTTTTATAAGTGGTAAATGATTAGGGGAAAATAATCATGGGGAAAGGGATCTTTTTTCCTTGACCCTCTGAAAACAGAACGATGCAGCTGGTTACAAAATCCTACCGTTATCAGCTCTTCTGCACATTGCAGTGATGCTTTGGTATGCGGGGAGAAACACTCTTAGGGTGCTGGTCCTTGGCATGACTCTTGCCATTCTAATTGGAATTAGTGCCACCCTCAGCTTGGATTTTGAACAAGGCCTTATTCTTTCAGGAAGACAACTAATGGATGATAGCAAGTTCATCCACTTACTGGGCTTGTGCCATGAGCAAAATTCAAAGTCCTGTATATCTTTCATTGTAGATTTTTAAATACTCCTTTTCCTAAAAAACTCAAGGGTTTAAAAATTGCTATTTTATATTTTAAATGATATTGAGCAGCTACCTACAATTTCTATGTACATTTTGTTCCCCCCCCCCCACCCCCCCCCCAAATTACGTTCCTTTTGACATTTTCCTCATCTGCTGTTTGTGACAAGTCATCAGCCAGATTTCCTGACTGACACATAGGTATGATCAGTGCAGGAGAGACCTGCGCACCACAGGCTGCAAACTGGAGGTTCTGTTCTCATGGCAGTTTGGGCAGTAACTTTTGAGAGAGGCCAAAAAAAGGAGGATGACATGCTGTCTCCTCTCTTCAGTATAGACATTAGGCTCTTATTCAGAAAGGATTTTTCTTTAAAAATGTACTTACTTTACTGAACTACTTACAGGCACATTTCTTCATAAGGCCACACCTAATCCAAACAAGACAGTCTCCCAACACTGAAGTTCCAAAATAATCCTTACCACTTTGTAAACCATTTATAGCTTTGAAAGTGTTAAGTGATTCCTTCGTTATTATTTATGCATGTTCATGAACTTCTGCTGTACATTGGAATAGGAGTTAACACATTCACATTTACTGTCTATTTTCTTGTGTGCCTTATGAGATGGCTTTTCTGACTGTATCTCAATAGTCTTTCTTTCTATGCAGGTTTATAATCAGTACAACTACTGTTTTCTAAAATACTACTACTCAAGGCTCGGAGTTTGTATTTAAATTACACTGACCAAGTAACAATGTATTCCATTTCAGGAACTGAATATTTGACTGTTAACCTTTTTCCCATACGTCCAGTGTGGCATGGAGCATATGGACTTGACAGACATCTCTCACCCAGACGCCCACGTGTGAACACACCCACATCCACATCTCTGGGTGGAAACCAGCCTAGAGAGGGGACGACGCTAATGGTGTTGCTTTAGAACCGTCTTTTCTTACCCTTTTAGACTCGTGTTTTGTATGAGACACCATTGCAAGAAAATTTTATCCCTCCAGAAGTATTTTATTACTAAAGAACAAAAGCAAAAAAAGCTTAAATTGCACTGGTTAAAGTACAGTTTCCAACAGCTGTCCTTCCTCAGTACTCTAATGGCCACTCCACCGCGAGTGGAAGTCACTGTTGTGTGTACACAGGTGGTCCCAATCAAAACTCCATCTTTTGAGCCCAATTATGTCCATTTTGTTATAGACTAAATCAGGGGTTTGTTCTACAAGAACAATACATGTTTTACCCTTTCCTTTAACTAGAAGGATAACTAGTAATGCATCAACATAATTTCTGTATTAACCATCATGCGCACAAGAAATACATAGTAAATAAGGAAGCTGAAAACTCCTGGCATTGGATCTTAAGCTAGATGATTAGAATGTGAAAAAGATTTTACAAATGTAAAACTTCTATTTCTCTGTAGAAACTTTCTTCACTTTGCTGTGCAAGAAGACACTGCTTTGCTATATTTAAAATGGCTTTTTTAAAAGAGATTTATGTATTTGGTAAATGTTTGTAGTCAACAGTTCACACAAGAAGCTGTACACGGTTTGATCATGTAAAACCGTTTGGCGGCACAAGCTGGACTTTGTTGCCATCCTTGAGATGAACCTTTTAAGAAAAATAAGTTAATCTCAATTTTTCCCTGAATGTGTTGTTTTTCTTCATTATACAATAAATATAATAGTGAACTTTTTATCAAATGGTGAAGACAATGCTAAAGGTTGTTGTAAACTGTTTGTCTCCCGCACTCACTCCAGTAA)$ MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRRAAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEKDEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDVEYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGLPYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVVPLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILLKDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLLHFIMPEKFEFWEDFEEDHGKGRENGYQSLHKVLEPFLLRRVKKDVEKSLPAKVEQILRVEMSALQKQYYKWILTRNYKALAKGTRGSTSGFLNIVMELKKCCNHCYLIKPPEENERENGQEILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAEYLTIKHYPFQRLDGSIKGEIRKQALDHFNADGSE|l* 09CO008 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 20 22 0 53 60 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(3),mismatches(3) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGAC(TCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO008 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 15 0 38 37 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAAgTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCC(AGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO008 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 6 0 203 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 mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAG)GCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO008 ENSG00000175029.17 ENSG00000234309.1(2599),ENSG00000119973.6(13778) -/- ./- chr10:125110990 chr10:118576219 5'UTR/splice-site intergenic deletion 6 6 0 113 18 high . . . . . ENSG00000175029.17 . ENST00000337195.9 . upstream downstream . ^(GGGAGCGGCCCGGAGGAGCCGGCGGCGGCCCGAGGAGCGAGGGACCGAACCGGGAGCCATGCCGCGCTGAGGGGGGGCCGCACAGCCGCCGCCACCGCCACCGCCGCCGGGTGGGGTGGGAGGGGCGGGAGACGCCGCCGCCGCCG)CCTCCAGGGTGGGCGCCTTTCGCCGTGGACGCCGACCGTCCGGGACGAG___GGTTTCATCACCTTAAATGGTTTTGAACCAATGAAGGTGTATTCCCTTAAAAAGACGGACAGCCCATCGTGTGAACTATAGAGTTTGTGGACAGATTTATATTG|TTAATATGCATAGAGGAAGTGGACGATTGACATCTTCATGATGCTGAGTCTTTCAAACCATGGACATG___GAGACAGAAAAAGAGAAGACACAGACACAGAAGGAAAGCAAAGTAAAGACAGAGGCAGAGATTGGAGTGATGCAGTCACAAGCCAAGGAAGGCCTGGAGaCAAC . 09CO008 ENSG00000175029.17 ENSG00000119973.6(4284),ENSG00000225155.4(43828) -/- ./- chr10:125110990 chr10:118599932 5'UTR/splice-site intergenic deletion 10 1 0 113 38 high . . . . . ENSG00000175029.17 . ENST00000337195.9 . upstream downstream duplicates(1) ^(GGGAGCGGCCCGGAGGAGCCGGCGGCGGCCCGAGGAGCGAGGGACCGAACCGGGAGCCATGCCGCGCTGAGGGGGGGCCGCACAGCCGCCGCCACCGCCACCGCCGCCGGGTGGGGTGGGAGGGGCGGGAGACGCCGCCGCCGCCGCCT)CCAGGGTGGGCGCCTTTCGCCGTGGACGCCGACCGTCCGGGACGAG___GGTTTCATCACCTTAAATGGTTTTGAACCAATGAAGGTGTATTCCCTTAAAAAGACGGACAGCCCATCGTGTGAACTATAGAGTTTGTGGACAGATTTATATTG|CTCGAGCTGAGCTTTCACTCGCCGTCCACCACTGCTGATTGCCGTCGTCGCAGACCCGCCTCTGACTTCCACCCCTCTGGATGCAGCAGGGTGTCCGCTGCGCTTCTGATCCAGTGAGGCGCCCATTGCTGTTCCGGTTCTC . 09CO008 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 8 0 35 14 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGC)AGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09CO008 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 17 96 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismappers(1),mismatches(1) GCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCA(ACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09CO008 ENSG00000149269.10 ENSG00000254988.1 -/- -/- chr11:77473552 chr11:76978619 5'UTR/splice-site exon deletion 2 5 0 56 23 high . . . . . ENSG00000149269.10 ENSG00000254988.1 ENST00000356341.8 ENST00000530190.1 upstream downstream low_entropy(1) ^(GTACAATAGCGCGGCTGTGGGCGGGGGAGGCTGCCCTCCCGCGGCTGCAGCCGGAGCCGAAGGTGGTGGCTGCACAGTAGACGCCCCCTCACGGCTTCCCCCACACGCTCCCGCCCCCTCGCTCGCCCATCGCGCTTCCCTCACAGGCTCTGCAGTCCTCCCCCACAGACGCCTTCCCCCTTGGACTCTCATTCCCTTTTCCACGGAGCCCCGCGCTTTCGTGAGCCCCCTCGAGGAACCTGGTCTCCGCATCCAGTTACCACCTCCTGCCTCAGAGGCCATCTGAGCCCTTCGCACCTCGCCCCTCAGTCCCCCCTTCCCCCCCCGCCCGCGTCGCCTCGCTCCCTCCCGCCCCCCCATCATCCCTTCCCTCGCAGTTCCCCTGTCCTGAGGGGAGCCC)CGCCACGGGCAGCGCGGCGGCGGCGGCAGGAGGGAGAAAGTGAAGCGGTAGCTCGCGCACACTCGCGCCCTCACTCCCGGCTAGGCGGCACCCACCGCCGGGAGGAGGAGGAGGAGCCGAGAGGAGCTGAGCGAGCGCGGAAG|CCCACCATTTGGCAAGTCCTAAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTATGCGGACAACTGGAGGGTGAACAAGGTGGAAAGGAGCTTTATTGAGTGACAGAACAGCTCTTGGGAGACCCAAAGTGGGTGGCTCCTATCTGCAGGCAGGTCATCCCAGTGAATGTCCAGCTCTCAGTGGAGAGGAGACCCAGAGTGGGCAGCTCCTATTCGCAG___AGTCATGTGGAAGCACCAGGATCCC(ATTCCTACCACTGAAATTAAACAAATGAAAAAAAATTAGCATGAAATTCTTTGTGCGTGGACAGTGACCTGAGAAGACAATAAGACATTTCAAAGCATTGAGTTAAGGATAATGAAGTTTATAAAATCTAGTGGCAAGATATAGCTGACTCTTGA___CACAGACAGAGGAAAGGCCATGTGAGACACAGCAAGAAAGTGACCATCTGCAAGCCAGGAAGGAGACGTTTTTTGGTTTTGGTTCCTCACCAGGAACCAAATTAAATGCCACCTTGATCTTGGACTTCCAAGCCTCCAGAACTGTGAGAAATAAATGTATGTTGCTTAA)$ . 09CO008 ENSG00000187164.20 ENSG00000270778.1(5398),ENSG00000180745.5(3956) -/- ./+ chr10:116940466 chr10:127873885 CDS/splice-site intergenic inversion 2 4 0 64 17 high out-of-frame . . . . ENSG00000187164.20 . ENST00000392901.10 . upstream upstream . ^(GCGTGCTAGGAGGCGAGGCGAGGGGCATGCGTGCTAGGAGGCGAGGCGAGGGGCATGCGTGCTAGGAGGCGAGGCGAGGGGCATGCGTGCTAGGAGGCGAGGCGAGGGGCATGCGTGCTAGGAGGCGAGGCGAGGGCCAGGTGCTAGGGCTAGAAAGGAGGCAGGGCTGGCGCTCTAGGGACTCCTGGAGCTCTCCTCCTGTGAGCCTGGACCCGGCACCTCACGCAGCCCATCTCCCACAGCTTCCGTCGACGGAGGCCGGGGCCTCACCAGGAAAGTG___GTTTGCCCTCCAATCAGTGGTCTGCCTTCATTTTCCAGATTGATGAAGTCTGCCTCAGAGAAGGGG___CAATAGGCGAATATGAAGACCTTAGAGCAGAGAACCAGAAAACAAAGGAGAAG___TGTGACAAAATTAGGCAAGAACGAGATGAAGCCGTTAAAAAACTGGAAGAATTTCAGAAAA___TTTCTCACATGGTCATAGAGGAAGTTAATTTCATGCAGAACCATCTTGAAATAGAGAAGACTTGTCGAGAAAGTGCTGAAGCTTTGGCAACAAAG___CTAAATAAAGAAAATAAAACGTTGAAAAGAATCAGCATGTTGTACATGGCCAAGCTGGGACCAGATGTAATAACTGAAGAGATAAACATTGATGATGAAGATTCGACTACAGACACAGACGGTGCCGCCGAGACTTGTGTCTCAGTACAGTGTCAGAAGCAAATTAAAG___AACTTCGAGATCAAATTGTATCTGTTCAGGAGGAAAAGAAGATTTTAGCCATTGAGCTGGAAAATCTCAAGAGCAAACTCGTAGAAGTAATTGAAGAA___GTAAATAAAGTTAAACAAGAAAAGACTGTTTTAAATTCAGAAGTTCTTGAACAGAGAAAAGTCTTAGAAAAATGCAATAGAG___TGTCCATGTTAGCTGTAGAAGAGTATG)AGGAGATGCAAGTAAACCTGGAGCTGGAGAAGGACCTTCGAAAGAAAGCAGAGTCATTTGCACAAGAG___ATGTTCATTGAGCAAAACAAGCTAAAGAGACAAAGCCACCTTCTGCTGCAGAGCTCCATCCCTGATCAGCAGCTTTTGAAAGCTTTAGACGAAAATGCAAAACTCACCCAGCAACTTGAAGAAGAGAGAATTCAGCATCAACAAAAG|GGTCTTTGGGCAGTGTGAGGACATATGTCAGCAAGCGCATAACAAACACAGAATTGGCGGCCCTAACAGCGGGGAAAATAGTACCTGTGTATCCACGGCGTCCTCACTGCTACCCCACATGGGGCATTCAGGTTTCACAGACATCCCTTATGCCTCAGGTCCTTCTCC MVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQK|glwav* 09CO008 ENSG00000082068.9 ENSG00000164188.8(25742),ENSG00000287634.1(16028) +/+ ./+ chr5:37479987 chr5:36327644 CDS/splice-site intergenic duplication 1 3 0 57 6 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000082068.9 . ENST00000265107.9 . downstream upstream . ^(GCAGTTGTTTGGGCTGTCCCTGTGGCTGGTTCTGGGGTGTGCGGCCAGCCATGGAGCGCTCTGGGCCCAGCGAAG___TGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCG___GTAAAAAAGCTCGCACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGG___AAGCAAGAGAAAAAGAGGAAGAAATGAACAGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATTGCTCCAAATCATCTTCCAG___GGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTACCCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAA___AATCCTGTTCACAAGATTCCTGACTCGCATGAGATAACGCTGAAGCATGGCACTAAAACA___GTGTCTGCTTTGGGTCTGGATCCCTCAGGTGCCCGTTTGGTGACAGGAGGATATGACTATGATGTTAAGTTTTGGGATTTTGCTGGAATGGATGCTTCTTTTAAGGCATTTCGATCCCTTCAGCCCTGTGAGTG___CCATCAGATCAAGTCATTACAGTATA)GTAACACAGGAGACATGATTCTTGTTGTATCTGGAAGCTCTCAGGCCAAGGTGATTGACAGAGATGGgTTTGAAGTAATGGAATGTATAAAAGGAGACCAGTATATTGTGGACATGGCCAACACCAAG|GAAACTTTTTCAGCTTTGTGACTGAGAGACAGCCAGCCTTTCAGCTGGGTGAGCTTTCCAGTTGCATGAGAAAGAGCTTCATAAGAAACCACCTACACTCTTCCCATCCAAAAAAATAGAAAAAAA MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVVRDCSKSSSRDTSSSESEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEENPVHKIPDSHEITLKHGTKTVSALGLDPSGARLVTGGYDYDVKFWDFAGMDASFKAFRSLQPCECHQIKSLQYSNTGDMILVVSGSSQAKVIDRDGFEVMECIKGDQYIVDMANTK|etfsal* 09CO008 ENSG00000160190.14 ENSG00000226527.2(10894),ENSG00000226433.2(19435) +/+ ./+ chr21:42565844 chr21:33133179 CDS intergenic duplication 10 27 2 110 51 medium out-of-frame . Major_Facilitator_Superfamily(100%)| . . ENSG00000160190.14 . ENST00000398341.7 . downstream upstream duplicates(1),low_entropy(1),mismatches(1) ^(TGGGAAGTTCGCGCAAGTGCGGCTCTGCAGGGAGGAGGGAGGGCCGAGGGGAAGGCCCTCGAGAGAGTGGAGGGCAACAGTGGCCACGGTTCCTCTGTACTTCGTTTCTTCC___CTTTATAGAATTGAGAGATTGCTGAGCCTAAATACATGTTGCTGCATTGCCTCCGAGAATGGCCGGACCTATCCCCACTCTCACCAAAACAGAGTGTGGGACTCACTGCTCCCTCGCCTACT___AGAGCAGAGCCACTGCCAGAAGGAAGGGGACAAGACCCAGCAGGACACCTTCTTTCCACGCTTTCCAGCCTGTGGGAGCGGCAGGGGCAACAGAGAGAGGATCTGGAGCCAGGATTAATGACTCATTTATGAAGCATCTTATTCTGCGACCGAGGCTCAGTGGTCAGTGGCGACGTAAATGGCTCGACTCCCCGCTGGCATTCGCTTCATCATCTCATTCTCCAGGGATCAGTG___GTACAGAGCCTTCATTTTTATTTTGACATTTCTGCTGTATGCAAGTTTTCACTTATCTCGAAAGCCTATCAGCATAGTTAAG___GGTGAGCTCCACAAGTACTGCACTGCTTGGGATGAAGCTGACGTCAGGTTCAGCAGCCAGAACAGGAAGTCTGGGTCCGCTGCCCCCCACCAGCTCCCTGACAATGAGACCGACTGTGGCTGGGCACCGTTTG___ATAAGAACAACTATCAGCAGCTGCTTGGGGCCCTGGACTACTCCTTCCTGTGCGCCTATGCCGTGGGGATGTACCTCAG___TGGCATCATTGGGGAGCGCCTGCCGATTAGGTATTACCTAACTTTCGGGATGCTCGCCAGCGGAGCCTTCACCGCCCTGTTCGGCTTAGGGTATTTCTACAACATCCACAGTTTCGGATTCTACGTGGTAACTCAG___GTCATCAACGGGCTGGTGCAGACCACCGGCTGGCCCAGCGTCGTCACCTGCCTCGGCAACTGGTTTGGAAAAGGAAG___GAGAGGTTTGATTATGGGGGTCTGGAACTCCCACACCTCCGTGGGCAACATCTTGGGGTCATTGATCGCTGGCTACTGGGTGTCCACATGCTGGGGCCTGTCCTTCGTCGTGCCTGGAGCCATCGTGGCAGCCATGGGGATAGTGTGCTTTCTCTTCCTCATTGAAC___ATCCGAACGACGTCAGGTGCTCCTCCACCCTGGTGACG___CACTCAAAAGGCTATGAGAATGGTACAAACAGATTGAGACTCCAGAAGCAAATCTTGAAGAGCGAAAAGAACAAGCCTCTG___GACCCAGAGATGCAGTGCCTGCTGCTCTCAGATGGGAAGGGCTCCATCCACCCGAACCACGTCGTCATTCTCCCCGGGGACGGTGGGAGTGGCACGGCCGCCATCAGCTTCACAGGGGCCTTGAAAATTCCA___GGCGTGATAGAGTTCTCACTGTGTCTGCTGTTTGCCAAGCTGGTCAGCTATACTTTCCTCTTCTGGCTGCCCCTGTACATCACGAATGTGG___ATCACCTTGATGCCAAAAAGGCGGGGGAGCTCTCCACCCTGTTTGACGTGGGCGGAATCTTTG___GTGGGATCCTGGCAGGTGTGATCTCAGACCGACTGGAGAAAAGGGCCTCCACCTGCGGCCTGATGCTGCTGCTCGCGGCCCCCACG___)CTCTACATCTTCTCCACC|ACTGAACTATACACTTAAAAAATGGTTAAGATGGTAAATTTTGGCTGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGTCAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGACCCTGAGGCAGGAGAATCACTTGAACTAGGGAGTCAGAGGTTtCAGTGAG MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPDNETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVVTQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLFLIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISFTGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLMLLLAAPTLYIFST|telyt* 09CO008 ENSG00000233247.3(184485),ENSG00000101958.14(99885) ENSG00000101958.14 ./+ +/+ chrX:14429413 chrX:14529948 intergenic 5'UTR/splice-site deletion/read-through 2 2 1 7 30 medium . . |Neurotransmitter-gated_ion-channel_ligand_binding_domain(100%),Neurotransmitter-gated_ion-channel_transmembrane_region(100%) . . . ENSG00000101958.14 . ENST00000443437.6 downstream upstream . GGCTGCTACATGAGAGTGTGAACCAGGAGAAGCTTTGCAAAGGAAGTGACTCCTCCCCAGATGTTAGGAGTTTTGCAGGCAGAGAAAGAGATCAAGAAAAGATCTGTGAGGAAGAACTAACAAGATCAAAACTGCACAAGCAACGAGAACATGCTGTGTTGAGGATGCTACAGTGGAATGCAGGAGCTTAATTTCAAG|GAAACTAGGTTCCTGCCAAATTTTGAATCTGGACAATAAACAGACACTTTGTCCTAGCATCTTTCTGGAATCATTTCGGGATATTTTCCACAAGCAACACAGAAACAGGAATGAACCGGCAGCTAGTGAACATTTTGACAGCCTTGTTTGCATTTTTCTTAGAGACAAACCACTTCAG(___AACCAAGATAAATGGAACACATAGTAATAATGCTATGAATACTGGGAAAACCCACTATGTTCCTTTCAGGTTTACACCTCCTACTATGATTAAGAAAAAATATAGGCTGGTTTTTATTAGAATCATCATCATCATCATCATCCTCACCACCACCACCATCATAATCAAATAATACTTGATTAATCAGATGAATCTGCATATGAGAAT___GACGGCTTTCTGCAAAGACCATGACTCCAGGTCTGGAAAACAACCTTCACAGACCCTATCTCCTTCAGATTTCTTGGACAAGTTAATGGGAAGGACATCAGGATATGATGCAAGAATCAGGCCAAATTTTAAAG___TTTTGGATCAGTCACAGAAACGACCATG___GACTACCGAGTGAATATTTTTCTGAGACAACAGTGGAATGATTCACGGCTGGCGTACAGTGAGTACCCAGATGACTCCCTGGACTTGGACCCATCCATGCTAGACTCCATTTGGAAACCAGATTTGTTCTTTGCCAATGAGAAGGGTGCCAACTTCCACGATGTCACCACTGACAACAAATTGCTACGGATTTCGAAAAATGGCAAAGTGCTCTACAGTATCAG___ACTCACCTTGACCTTATCCTGTCCCATGGACTTGAAGAACTTTCCGATGGATGTCCAGACCTGTACAATGCAGCTGGAGAGTT___TTGGGTACACGATGAATGACCTGATATTTGAGTGGTTAAGTGATGGTCCAGTGCAAGTTGCTGAAGGATTGACCCTGCCCCAGTTTATTTTGAAAGAAGAGAAGGAACTTGGCTACTGTACAAAGCACTACAACACTG___GAAAGTTTACCTGCATTGAGGTCAAGTTTCATCTGGAACGCCAAATGGGATATTATTTGATCCAGATGTACATCCCAAGCCTGCTTATAGTAATTTTGTCCTGGGTTTCCTTTTGGATAAATATGGATGCAGCCCCTGCCAGGGTCGCACTGGGCATCACCACAGTCTTAACGATGACCACCCAGAGTTCAGGCTCCAGGGCATCTCTGCCAAAG___GTCTCCTATGTAAAAGCGATTGACATCTGGATGGCGGTGTGCCTTCTGTTTGTGTTTGCTGCCTTACTGGAATACGCAGCGGTGAACTTCGTCTCCAGGCAACACAAGGAGTTCCTGCGCCTCCGAAGAAGACAGAAGAGGCAGAATAAG___GAAGAAGACGTTACTCGTGAAAGTCGTTTTAATTTTAGCGGTTATGGGATGGGTCACTGCCTCCAAGTGAAAGATGGAACAGCTGTCAAGGCCACACCTGCCAACCCACTCCCACAACCGCCAAAAGATGGAGATGCTATCAAGAAGAAGTTTGTGGACCGGGCAAAAAGGATTGACACGATATCTCGAGCTGCCTTCCCATTGGCCTTCCTCATTTTCAACATCTTTTACTGGATCACATACAAGATCATTCGGCATGAAGATGTCCACAAGAAATAGATGTGCCCTACAGACCCTGGGACCTTCTTGCCTCAGTGTTGTGCTTGTAAATACACAGTGAAATTGTCTTTATATCACTTTGACAGAGGAGAAGATTGAGGGAGGGGGGAGGGAGGGTCATGGGGGTGGGTTTCCTGGCACCTACATGAAAAAAAAGACAAGTTATATGGGTGATGAAGAAAACTGCACAAAATTAAGGGGTTGCAGAATCACGGGAGCATAATAATTCCCTTCCATAATCTTTAGCATTGTTCTTTCAGTCAGACATGATATGCGCAACATTCAGACATGATATGCGCATCATTCAGACATGATATGCGGGGTCAAGTTCTTAAGGGCTGTTTGCCTTTTGGTCCTTTTGGTTTGGTTTGGCTTTGACTAATTCTGGTACTGAAAAGTTAGCTATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACTTCAAAAATGCTTAACCATCTGACCATAGTGACTAGCCTATAGTGAGTCGAGGACCAAACTTTTTCAGGAAAATGCTGCCTCGTTTTTAAAACAAGCCTCCTAAGCTATGTTCTTTACAATGTCTGTAATTAGTGTTTCACTTGAGAAAGCCTTTTGTGGGTCGTAAATTATTTCTACTTATCCAGTAAATAACAATGACAAAATAAACACCAATGACAGAAAAATTTCTACTTTACTGTCCATATAGGTGTGCATTTTAATATTTTTCTTTCCAAGATAAAATTTTGAAACTTAAATTGTGTATTGTGTAATTAATTTGATAGTGTACCCTCTTAATAAATGCCCACTTTATTTTATATCCAAGTTAGTGCATTATATATATATTTTTGCTTTGGCTATATTTACACGTGACTTTAATCGCCCAACTGTGACTAGTCATTGCAGCTACTCAGCTACAGTATTTATGGAGATGGTGTGTCCTGAACAGTGTAGCTCAGGTCAGCTTGAACTTTCCATTTCTGCTCTCATTGTAGGTGTAACTACTAGTCCTAATGTCAACTGACCCATGATTTCTACTGTCAGTCAATATAAGTGAACATTGTTTTAAATATCCTTAACTAACTTAAAGAATTTTAAAATTGTACTGTGATTTTCATAACCCGTTGCCTTTTTGGTACCAGAGCTACGTGGTTTGAATTCTGGCTACATGTTTTAAGTAAGAAAAAAAAAGACGTATTTTTGCTTACTCAGATAAAAGACAACCTGTAAAAATATAATAATTAAATTTTACATGTGCTGTACAAGGGGTTATTTTAAAAAGCATTTGTTCAATTTCAATAAAGCTAAGTGTGCCGC)$ . 09CO008 ENSG00000107779.14 ENSG00000229272.2 +/+ -/+ chr10:86843510 chr10:118829513 intron intron deletion/5'-5' 2 2 0 34 8 medium . . . . . ENSG00000107779.14 ENSG00000229272.2 ENST00000372037.8 . downstream upstream duplicates(1) ^(AAGAGTCGGCGGCGGTGGCGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAG)GCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGG___ACgTATGAAgATATGCATCAGTTTAATACTGTCTTGGAATTCATGAGATGGAAGCATAGGTCAAAGCTGTTTGGAGAAAATCAGAAGTACAGTTTTATCTAGCCACATCTTGGAG___GATATTACTTTTTTGGTCCCTATTAAACTATGTGGCAGCAAGTCACAAAGGAGGAATCAGAAAGTAACCTGCTCCCCACCCTTGGTGTGTAGTCCAGTTAGCAAG|ATGTGATGGCTGGAGCTCAATAATCATCTTGGATCAGAGGCAACTACTTTGAGGATGAAAGCCACTCACCAACAAAGGTGGAGCAGAAAGGCAGAAGGAATCT[gt]ATTTCTGATCACTGTGGGAACCCGTACTAGTTCTGGCCCACCTTTCCCTGGACTTCTACATGAGAGGAAAACCAAAAC . 09CO008 ENSG00000157554.19 ENSG00000232806.1(2167),ENSG00000223400.1(11010) -/- ./+ chr21:38660522 chr21:41565125 5'UTR/splice-site intergenic inversion 0 3 0 0 12 medium . . . . . ENSG00000157554.19 . ENST00000398919.6 . upstream upstream duplicates(1) ^(GCTGAGCCCGTCGGCGCCGAGGGAGTTAGTGCGACCCGGCTCGGCGCGCACGGCCAAGGCACGCGCGCTGGCACACGCGGGCG)CGGACACGCGCGGACACACACGTGCGGGACACGCCCTCCCCCGACGGCGGCGCTAACCTCTCG|CTTTCTTCTCAACCGACATCTGGAAGCCATTCAGTGCTGCATACACTTCCTGCAGGCTGCCCCTCTGTTCTCTCGCCCTTCTCATCTCACGTGATTGATCACCTGACAAGCTACCTGGATTTCCTAGTGCCCCAGAGTTGCCCTCAATCAAC . 09CO008 ENSG00000107902.14 ENSG00000270294.1(58902),ENSG00000224907.1(67708) +/+ ./+ chr10:124517271 chr10:109739943 CDS/splice-site intergenic duplication 3 0 0 22 4 medium out-of-frame . HAD-hyrolase-like(100%),Haloacid_dehalogenase-like_hydrolase(100%)| . . ENSG00000107902.14 . ENST00000368842.10 . downstream upstream . ^(GTCGGTTGGGACGCGGAGCTGAGGAGCAGGGCCGGGCGCCATGGCACCGTGGGGCAAGCGGCTGGCTGGCGTGCGCGGGGTGCTGCTTGACATCTCGGGCGTGCTGTACGACAGCGGCGCGGGCGGCGGCACGGCCATCGCCGGCTCGGTGGAGGCGGTGGCCAG___ACTGAAGCGTTCCCGGCTGAAGGTGAGGTTCTGCACCAACGAGTCGCAGAAGTCCCGGGCAGAGCTGGTGGGGCAGCTTCAGAGGCTGGGATTTGACATCTCTGAGCAGGAGGTGACCGCCCCGGCACCAGCTGCCTGCCAGATCCTGAAGGAGCAAGGCCTGCGACCATACCTGCTCATCCATGACG___GAGTCCGCTCAGAATTTGATCAGATCGACACATCCAACCCAAACTGTGTGGTAATTGCAGACGCAGGAGAAAGCTTTTCTTATCAAAACATGAATAACGCCTTCCAGGTGCTCATGGAGCTGGAAAAACCTGTGCTCATATCACTGGGAAAAGG___GCGTTACTACAAGGAGACCTCTGGCCTGATGCTGGACGTTGGTCCCTACATGAAGGCGCTTGAG___TATGCCTGTGGCATCAAAGCCGAGGTGGTGGG)GAAGCCTTCTCCTGAGTTTTTCAAGTCTGCCCTGCAAGCGATAGGAGTGGAAGCCCACCAG___GCCGTCATGATTGGGGACGATATCGTGGGCGACGTCGGCGGTGCCCAGCGGTGTGGAATGAGAGCGCTGCAGGTGCGCACCGGGAAGTTCAG|GAACATGGCTTAGAGAGCTGAGGTGACTGGGCCAAGGCCACACTGCTCATACACAGGAAAACTGGGAATAAGACTCCGGCTGACCTGACTTCAGGATTTCAAGCTCTTTCTCCTGCACCACAAGAC MAPWGKRLAGVRGVLLDISGVLYDSGAGGGTAIAGSVEAVARLKRSRLKVRFCTNESQKSRAELVGQLQRLGFDISEQEVTAPAPAACQILKEQGLRPYLLIHDGVRSEFDQIDTSNPNCVVIADAGESFSYQNMNNAFQVLMELEKPVLISLGKGRYYKETSGLMLDVGPYMKALEYACGIKAEVVGKPSPEFFKSALQAIGVEAHQAVMIGDDIVGDVGGAQRCGMRALQVRTGKFr|nma* 09CO008 ENSG00000233247.3(10776),ENSG00000101958.14(273594) ENSG00000101958.14 ./+ +/+ chrX:14255704 chrX:14529948 intergenic 5'UTR/splice-site deletion/read-through 2 1 0 13 30 medium . . |Neurotransmitter-gated_ion-channel_ligand_binding_domain(100%),Neurotransmitter-gated_ion-channel_transmembrane_region(100%) . . . ENSG00000101958.14 . ENST00000443437.6 downstream upstream . CCTCTACAAGGCTGGTTGGTCTCCTTTCCTGCAAAAACTTTTAAGATGAAG___CAGAGAGAAGAGTTTTCATTTGGTATTGTAAGGAAGAGAAAGAAAATTCACTAAAATTAATAG|GAAACTAGGTTCCTGCCAAATTTTGAATCTGGACAATAAACAGACACTTTGTCCTAGCATCTTTCTGGAATCATTTCGGGATATTTTCCACAAGCAACACAGAAACAGGAATGAAC(CGGCAGCTAGTGAACATTTTGACAGCCTTGTTTGCATTTTTCTTAGAGACAAACCACTTCAG___AACCAAGATAAATGGAACACATAGTAATAATGCTATGAATACTGGGAAAACCCACTATGTTCCTTTCAGGTTTACACCTCCTACTATGATTAAGAAAAAATATAGGCTGGTTTTTATTAGAATCATCATCATCATCATCATCCTCACCACCACCACCATCATAATCAAATAATACTTGATTAATCAGATGAATCTGCATATGAGAAT___GACGGCTTTCTGCAAAGACCATGACTCCAGGTCTGGAAAACAACCTTCACAGACCCTATCTCCTTCAGATTTCTTGGACAAGTTAATGGGAAGGACATCAGGATATGATGCAAGAATCAGGCCAAATTTTAAAG___TTTTGGATCAGTCACAGAAACGACCATG___GACTACCGAGTGAATATTTTTCTGAGACAACAGTGGAATGATTCACGGCTGGCGTACAGTGAGTACCCAGATGACTCCCTGGACTTGGACCCATCCATGCTAGACTCCATTTGGAAACCAGATTTGTTCTTTGCCAATGAGAAGGGTGCCAACTTCCACGATGTCACCACTGACAACAAATTGCTACGGATTTCGAAAAATGGCAAAGTGCTCTACAGTATCAG___ACTCACCTTGACCTTATCCTGTCCCATGGACTTGAAGAACTTTCCGATGGATGTCCAGACCTGTACAATGCAGCTGGAGAGTT___TTGGGTACACGATGAATGACCTGATATTTGAGTGGTTAAGTGATGGTCCAGTGCAAGTTGCTGAAGGATTGACCCTGCCCCAGTTTATTTTGAAAGAAGAGAAGGAACTTGGCTACTGTACAAAGCACTACAACACTG___GAAAGTTTACCTGCATTGAGGTCAAGTTTCATCTGGAACGCCAAATGGGATATTATTTGATCCAGATGTACATCCCAAGCCTGCTTATAGTAATTTTGTCCTGGGTTTCCTTTTGGATAAATATGGATGCAGCCCCTGCCAGGGTCGCACTGGGCATCACCACAGTCTTAACGATGACCACCCAGAGTTCAGGCTCCAGGGCATCTCTGCCAAAG___GTCTCCTATGTAAAAGCGATTGACATCTGGATGGCGGTGTGCCTTCTGTTTGTGTTTGCTGCCTTACTGGAATACGCAGCGGTGAACTTCGTCTCCAGGCAACACAAGGAGTTCCTGCGCCTCCGAAGAAGACAGAAGAGGCAGAATAAG___GAAGAAGACGTTACTCGTGAAAGTCGTTTTAATTTTAGCGGTTATGGGATGGGTCACTGCCTCCAAGTGAAAGATGGAACAGCTGTCAAGGCCACACCTGCCAACCCACTCCCACAACCGCCAAAAGATGGAGATGCTATCAAGAAGAAGTTTGTGGACCGGGCAAAAAGGATTGACACGATATCTCGAGCTGCCTTCCCATTGGCCTTCCTCATTTTCAACATCTTTTACTGGATCACATACAAGATCATTCGGCATGAAGATGTCCACAAGAAATAGATGTGCCCTACAGACCCTGGGACCTTCTTGCCTCAGTGTTGTGCTTGTAAATACACAGTGAAATTGTCTTTATATCACTTTGACAGAGGAGAAGATTGAGGGAGGGGGGAGGGAGGGTCATGGGGGTGGGTTTCCTGGCACCTACATGAAAAAAAAGACAAGTTATATGGGTGATGAAGAAAACTGCACAAAATTAAGGGGTTGCAGAATCACGGGAGCATAATAATTCCCTTCCATAATCTTTAGCATTGTTCTTTCAGTCAGACATGATATGCGCAACATTCAGACATGATATGCGCATCATTCAGACATGATATGCGGGGTCAAGTTCTTAAGGGCTGTTTGCCTTTTGGTCCTTTTGGTTTGGTTTGGCTTTGACTAATTCTGGTACTGAAAAGTTAGCTATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACTTCAAAAATGCTTAACCATCTGACCATAGTGACTAGCCTATAGTGAGTCGAGGACCAAACTTTTTCAGGAAAATGCTGCCTCGTTTTTAAAACAAGCCTCCTAAGCTATGTTCTTTACAATGTCTGTAATTAGTGTTTCACTTGAGAAAGCCTTTTGTGGGTCGTAAATTATTTCTACTTATCCAGTAAATAACAATGACAAAATAAACACCAATGACAGAAAAATTTCTACTTTACTGTCCATATAGGTGTGCATTTTAATATTTTTCTTTCCAAGATAAAATTTTGAAACTTAAATTGTGTATTGTGTAATTAATTTGATAGTGTACCCTCTTAATAAATGCCCACTTTATTTTATATCCAAGTTAGTGCATTATATATATATTTTTGCTTTGGCTATATTTACACGTGACTTTAATCGCCCAACTGTGACTAGTCATTGCAGCTACTCAGCTACAGTATTTATGGAGATGGTGTGTCCTGAACAGTGTAGCTCAGGTCAGCTTGAACTTTCCATTTCTGCTCTCATTGTAGGTGTAACTACTAGTCCTAATGTCAACTGACCCATGATTTCTACTGTCAGTCAATATAAGTGAACATTGTTTTAAATATCCTTAACTAACTTAAAGAATTTTAAAATTGTACTGTGATTTTCATAACCCGTTGCCTTTTTGGTACCAGAGCTACGTGGTTTGAATTCTGGCTACATGTTTTAAGTAAGAAAAAAAAAGACGTATTTTTGCTTACTCAGATAAAAGACAACCTGTAAAAATATAATAATTAAATTTTACATGTGCTGTACAAGGGGTTATTTTAAAAAGCATTTGTTCAATTTCAATAAAGCTAAGTGTGCCGC)$ . 09CO011 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 16 0 36 49 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(1) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO011 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 7 0 196 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(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAA)GCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAAC...___...TTTTCTAGTCAgTTCT...___ACAAAAGGACGTGGAATGTACTTTCTGCTACAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO011 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 10 0 23 26 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),mismappers(1),mismatches(1) AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTC(TTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO011 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 14 0 17 138 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAG(GATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09CO011 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 5 5 0 12 22 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream . GGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGG(AATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 09CO011 ENSG00000160229.13 ENSG00000188171.16 +/+ -/+ chr19:20793878 chr19:20646866 CDS/splice-site intron duplication/5'-5' 2 0 0 35 12 medium out-of-frame . KRAB_box(100%)| . . ENSG00000160229.13 ENSG00000188171.16 ENST00000344519.10 . downstream upstream mismappers(1) ^(GTCTCTCCCTGCAGCTGGAGCTCCAGGTCGTCTGTTCACTGCTCTCTGTCTTCTTCTCCTAGAGGCCCAGCCTCTGTGGCCCTGTGTCCTGCAGGTATTGGGAGATCCACAGCTAAGACGCCAGGACCCCCTGGAAGCC)TAGAAATG___GGGCCATTGCAATTTAGAGATGTGGCCATAGAATTCTCTCTGGAGGAGTGGCATTGCCTGGACATGGCACAGCGGAATaTATATAGGGATGTGATGTTAGAGAACTACAGAAACCTGGTCTTTCTTG___GTATTGTTGTCTCAAAGCCAGACCTCATCACCCATCTGGAGCAAGGAAAAAAACCTTCGACTATGCAGAGACATGAGATGGTAGCCAACCCCTCAG|AGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGAAATGGTGCCATCTC?GCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGATTACAGACATGCATCACCGCACCC MGPLQFRDVAIEFSLEEWHCLDMAQRNiYRDVMLENYRNLVFLGIVVSKPDLITHLEQGKKPSTMQRHEMVANPS|emefrsccpswsemvps?ltatsasrvqaillplppe* 09CO011 ENSG00000160229.13 ENSG00000269110.1 +/+ -/+ chr19:20793878 chr19:20646866 CDS/splice-site intron duplication/5'-5' 2 0 0 35 12 medium out-of-frame . KRAB_box(100%)| . . ENSG00000160229.13 ENSG00000269110.1 ENST00000344519.10 . downstream upstream mismappers(1) ^(GTCTCTCCCTGCAGCTGGAGCTCCAGGTCGTCTGTTCACTGCTCTCTGTCTTCTTCTCCTAGAGGCCCAGCCTCTGTGGCCCTGTGTCCTGCAGGTATTGGGAGATCCACAGCTAAGACGCCAGGACCCCCTGGAAGCC)TAGAAATG___GGGCCATTGCAATTTAGAGATGTGGCCATAGAATTCTCTCTGGAGGAGTGGCATTGCCTGGACATGGCACAGCGGAATaTATATAGGGATGTGATGTTAGAGAACTACAGAAACCTGGTCTTTCTTG___GTATTGTTGTCTCAAAGCCAGACCTCATCACCCATCTGGAGCAAGGAAAAAAACCTTCGACTATGCAGAGACATGAGATGGTAGCCAACCCCTCAG|AGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGAAATGGTGCCATCTC?GCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGATTACAGACATGCATCACCGCACCC MGPLQFRDVAIEFSLEEWHCLDMAQRNiYRDVMLENYRNLVFLGIVVSKPDLITHLEQGKKPSTMQRHEMVANPS|emefrsccpswsemvps?ltatsasrvqaillplppe* 09CO013 ENSG00000152127.9 ENSG00000153086.14 +/+ +/+ chr2:134362408 chr2:134898341 CDS/splice-site CDS/splice-site deletion 189 131 5 445 387 high in-frame . Domain_of_unknown_function_(DUF4525)(100%),Glycosyltransferase_family_18(100%)| . . ENSG00000152127.9 ENSG00000153086.14 ENST00000409645.5 ENST00000356140.10 downstream upstream duplicates(29),low_entropy(2),mismappers(9),mismatches(7) ^(AGCCCAGGTAGCCGCGCCGCAGGCTCGGGGCGTCGCGACCTCGCGCCTCGGGCCGCGTGGGCACGGCGGCCGGCGGGTGCTCCCGGCTGCTGCTGCTGCCCAACAAGGAG___CAGAATGGAAGTGAGGAAAGGCAACCAGCTGACACAGGAGCCAGAGTGAGACCAGCAGACTCTCACACTCAACCTACACCATGAATTTGTGTCTATCTTCTACGCGTTAAGAGCCAAGGACAGGTGAAGTTGCCAGAGAGCAATGGCTCTCTTCACTCCGTGGAAGTTGTCCTCTCAGAAGCTGGGCTTTTTCCTGGTGACTTTTGGCTTCATTTGGGGTATGATGCTTCTGCACTTTACCATCCAGCAGCGAACTCAGCCTGAAAGCAGCTCCATGCTGCGCGAGCAGATCCTGGACCTCAGCAAAAGGTACATCAAGGCACTGGCAGAAGAAAACAGGAATGTGGTGGATGGGCCATACGCTGGAGTCATGACAGCTTATG___ATCTGAAGAAAACCCTTGCTGTGTTATTAGATAACATTTTGCAGCGCATTGGCAAGTTGGAGTCGAAGGTGGACAATCTTGTTGTCAATGGCACCGGAACAAACTCAACCAACTCCACTACAGCTGTTCCCAGCTTGGTTGCACTTGAGAAAATTAATGTGGCAG___ATATCATTAACGGAGCTCAAGAAAAATGTGTATTGCCTCCTATGGACGGCTACCCTCACTGTGAGGGAAAGATCAAG___TGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAG___GTTGAAAATTGGTGTCCTCATTTACCTTGGAGAGCAAAAAATCCCTACGAAGAAGCTGATCATAATTCATTG___GCGGAAATTCGTACAGATTTTAATATTCTCTACAGTATGATGAAAAAGCATGAAGAATTCCGGTGGATGAGACTACGGATCCGGCGAATGGCTGACGCATGGATCCAAGCAATCAAGTCCCTGGCAGAAAAGCAGAACCTTGAAAAGAGAAAGCGGAAGAAA___GTCCTCGTTCACCTGGGACTCCTGACCAAGGAATCTGGATTTAAGATTGCAGAGACAGCTTTCAGTGGTGGCCCTCTTGGTGAATTAGTTCAATGGAGTGATTTAATTACATCTCTGTACTTACTGGGCCATGACATTAGGATTTCAGCTTCACTGGCTGAGCTCAAGGA___AATCATGAAGAAGGTTGTAGGAAACCGATCTGGCTGCCCAACTGTAGGAGACAGAATTGTTGAGCTCATTTACATTGATATTGTAGGACTTGCTCAATTCAAGAAAACTCTTGGACCATCCTGGGTTCATTACCA___GTGCATGCTCCGAGTCCTTGATTCATTTGGTACTGAACCCGAATTTAATCATGCAAATTATGCCCAATCGAAAGGCCACAAGACCCCTTGGGGAAAATGGAATCTGAACCCTCAGCAGTTTTATACCATGTTCC___)CTCATACCCCAGACAACAGCTTTCTGGGGTTTGTGGTTGAGCAGCACCTGAACTCCAGTGATATCCACCACATTAATGAAATCAAAAGGCAGAACCAGTCCCTTGTGTATGGCAAAGTGGATAGCTTCTGGAAG|GATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAG___AATAAACTCAAAGCCGGCAATGCCCTGGCATTTTTGGGTCTTGAGAGAAAACAATTTGAATGACTGAATTTACTACAAAGGCAAACTTTCAAAAGGATATCTCATTTTTGTTTCTAAATATGTATCAACAGGTATCAACAAAATCCTATTTTGAACTATTTTACTCAGAAATGAATGTCCCAAATATCCTAAATTATTCATAATAAAAATGATTTGTAAG(TGTTTTCATTCTGAAAA)$ MALFTPWKLSSQKLGFFLVTFGFIWGMMLLHFTIQQRTQPESSSMLREQILDLSKRYIKALAEENRNVVDGPYAGVMTAYDLKKTLAVLLDNILQRIGKLESKVDNLVVNGTGTNSTNSTTAVPSLVALEKINVADIINGAQEKCVLPPMDGYPHCEGKIKWMKDMWRSDPCYADYGVDGSTCSFFIYLSEVENWCPHLPWRAKNPYEEADHNSLAEIRTDFNILYSMMKKHEEFRWMRLRIRRMADAWIQAIKSLAEKQNLEKRKRKKVLVHLGLLTKESGFKIAETAFSGGPLGELVQWSDLITSLYLLGHDIRISASLAELKEIMKKVVGNRSGCPTVGDRIVELIYIDIVGLAQFKKTLGPSWVHYQCMLRVLDSFGTEPEFNHANYAQSKGHKTPWGKWNLNPQQFYTMFPHTPDNSFLGFVVEQHLNSSDIHHINEIKRQNQSLVYGKVDSFWK|DKVILGTDYPFPLGELEPGKLIESMEEFDEETKNKLKAGNALAFLGLERKQFE* 09CO013 ENSG00000079785.15 ENSG00000224604.1(2002),ENSG00000237670.1(112748) +/+ ./- chr2:15630110 chr2:16857286 CDS/splice-site intergenic inversion 31 6 1 184 36 high out-of-frame . DEAD/DEAH_box_helicase(100%),Helicase_conserved_C-terminal_domain(100%),SPRY_domain(100%)| . . ENSG00000079785.15 . ENST00000381341.6 . downstream downstream duplicates(1) ^(GGCTCAGATCCCACGCTGCCATTCGGTAGATATGTGTCTTTAGATAAGTGACTTAACTTTCCCGAATTTTAGAGTCCTCATCTAAAGATTCTAATACCTTCCTGACAGA___CTGTGACCCTGATACCGCGTGGTGTGCTCCGAACACATGGTGCCCAGAACGAAGGCGGCGTCCAGAAGCCCTAGGTCCCAGAGGTCCGCTCAGCGGCAGGCGCATAAGGCGGGGCCGGCGCGGGCCTTTCCTTCCATCGGAACCGTTCTCCCGGGGCTGAGTCCCTGCCCGGACTCCGAACGCCGAAGACCAGGGGCCGGAAGCGCGCGCCGCCACTGCCACGCCGTGTCAGTCGGGAGGGAGGGAGCGAGCAGGCGAAGCCGCGGAGGACGGGGTGAAGATGGCGGCCTTCTCCG___AGATGGGTGTAATGCCTGAGATTGCACAAGCTGTGGAAGAGATGGATTGGCT___CCTCCCAACTGATATCCAGGCTGAATCTATCCCATTGATCTTAGGAGGAGGTGATGTACTTATG___GCTGCAGAAACAGGAAGTGGCAAAACTGGT___GCTTTTAGTATTCCAGTTATCCAGATAGTTTATGAAACTCTGAAAGACCAACAGGAAGGCAAAAAAGGAAAAACAACAATTAAAACTGGTGCTTCAG___TGCTGAACAAATGGCAGATGAACCCATATGACAGAGGATCTGCTTTTG___CAATTGGGTCAGATGGTCTTTGTTGTCAAAGCAGAGAAGTAAAGGAATGGCATGGGTGTAGAGCTACTAAAGGATTAATGAAAG___GGAAACACTACTATGAAGTATCCTGTCATGACCAAGGGTTATGCAGGGTCGGGTGGTCTACCATGCAGGCCTCTTTGGACCTAG___GTACTGACAAGTTTGGATTTGGCTTTGGTGGAACAGGAAAGAAATCCCATAACAAACAATTTGATAATTATGGAGAG___GAATTCACTATGCATGATACCATTGGATGTTACCTGGATATAGATAAGGGACATGTCAAGTTCTCCAAAAATG___GAAAAGATCTTGGTCTGGCATTTGAAATACCACCACATATGAAAAACCAAGCCCTCTTTCCTGCCTGTGTTTTGAAG___AATGCTGAACTGAAATTTAACTTCGGTGAAGAGGAATTTAAGTTTCCACCAAAAGATGGCTTTGTTGCTCTTTCCAAGGCACCGGATGGTTACATTGTCAAATCACAGCACTCAG___GTAATGCACAGGTGACACAAACAAAGTTTCTCCCCAATGCTCCGAAAGCTCTCATTGTTGAACCTTCCCGGGAGTTAGCTGAACAAACTTTGAACAACATCAAGCAGTTTAAGAAATACATTGATAATCCTAAATTAAG___GGAGCTTCTGATAATTGGAGGTGTTGCAGCCCGGGATCAGCTCTCTGTTTTGGAAAATGGA___GTAGATATAGTTGTAGGTACTCCGGGAAGACTAGATGACTTGGTGTCAACTGGAAAGCTGAACTTATCTCAAGTTAGATTCCTGGTCCTGGATGAAGCT___GATGGGCTTCTTTCTCAAGGTTATTCTGATTTTATAAATAGGATGCACAATCAGATTCCTCAGGTTACCTCTGATGGAAAAAGACTTCAG___GTGATTGTTTGCTCTGCCACTTTGCATTCTTTCGATGTAAAGAAACTGTCCGAGAAGATAATGCATTTTCCTACATGGGTTGACTTAAAAGGAGAAGACTCTGTTCCAGATACTGTACACCATGTTGTTGTCCCAGTAAATCCCAAAACTGACAGACTCTGGGAAAGGCTTGGAAAGAGCCACATTAGA___ACTGATGATGTACATGCAAAAGATAACACAAGACCTGGTGCTAATAGTCCAG___AGATGTGGTCTGAAGCTATTAAAATCCTGAAAGGGGAGTATGCTGTCCGGGCAATCAAGGAACATAAGATGGATCAAGCAATTATCTTCTGTAGAACCAAAATTGACTGTGATAACTTGGAGCAGTACTTTATACAACAAGGAGGAG___G)ACCTGATAAAAAAGGACACCAGTTCTCATGTGTTTGTCTTCATGGTGACAGAAAGCCTCATGAGAGAAAGCAAAACTTGGAAAGATTTAAG___AAAGGAGATGTAAGATTCTTGATTTGCACAGATGTAGCTGCTAGAGGAATTGATATCCACGGTGTTCCTTATG___TTATAAATGTCACTCTGCCCGATGAAAAGCAAAACTACGTACATCGAATTGGCAGAGTAGGAAGAGCTGAAAG___GATGGGTCTGGCAATTTCCCTGGTGGCAACAGAAAAAGAAAAG___GTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAG___TTACTATCTGAGATAGAAGAACACCTGAACTGTACCATTTCTCAGGTTGAGCCGGATATAAAGGTACCAGTGGATGAATTTGATGGGAAAGTTACCTACGGTCAGAAAAGGGCTGCTGGTG|GTTCTATGCTCGCTACCTGGGTGACAGGGTCCATACTCCAAACCTCAGCATCATGCAGTATTGCAG___GATCTACTAAAACAAT...___CTGGAGAAACTGAAGCCCAGAAAGAAGACAG MAAFSEMGVMPEIAQAVEEMDWLLPTDIQAESIPLILGGGDVLMAAETGSGKTGAFSIPVIQIVYETLKDQQEGKKGKTTIKTGASVLNKWQMNPYDRGSAFAIGSDGLCCQSREVKEWHGCRATKGLMKGKHYYEVSCHDQGLCRVGWSTMQASLDLGTDKFGFGFGGTGKKSHNKQFDNYGEEFTMHDTIGCYLDIDKGHVKFSKNGKDLGLAFEIPPHMKNQALFPACVLKNAELKFNFGEEEFKFPPKDGFVALSKAPDGYIVKSQHSGNAQVTQTKFLPNAPKALIVEPSRELAEQTLNNIKQFKKYIDNPKLRELLIIGGVAARDQLSVLENGVDIVVGTPGRLDDLVSTGKLNLSQVRFLVLDEADGLLSQGYSDFINRMHNQIPQVTSDGKRLQVIVCSATLHSFDVKKLSEKIMHFPTWVDLKGEDSVPDTVHHVVVPVNPKTDRLWERLGKSHIRTDDVHAKDNTRPGANSPEMWSEAIKILKGEYAVRAIKEHKMDQAIIFCRTKIDCDNLEQYFIQQGGGPDKKGHQFSCVCLHGDRKPHERKQNLERFKKGDVRFLICTDVAARGIDIHGVPYVINVTLPDEKQNYVHRIGRVGRAERMGLAISLVATEKEKVWYHVCSSRGKGCYNTRLKEDGGCTIWYNEMQLLSEIEEHLNCTISQVEPDIKVPVDEFDGKVTYGQKRAAG|gsmlatwvtgsilqtsascsiagstkt 09CO013 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 17 1 44 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(2),mismappers(2) TGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO013 ENSG00000169375.16 ENSG00000103657.14 -/- -/+ chr15:75451423 chr15:63797434 5'UTR/splice-site intron inversion/5'-5' 7 11 1 33 95 high . . . . . ENSG00000169375.16 ENSG00000103657.14 ENST00000394947.8 . upstream upstream duplicates(1),mismatches(1) ^(AACAGAGAAGCGGCCGCGGCGGTAGAGGCGGCGGAGACGGTTTCTCCATCTTCCCCCCTCCCCTTCCCCCCTCGGAGTTTCCCTCCCTCCCTCCCTCCCTCCTTCCC)AGTCTGGGCACCGGAGCCTGTGACCGCTTCGTTAGTGGAGAGGTAGCTGGCAGTCCGCTTCGGCGGGCCTGTGCCCCGCGCCGTTCTCGGGGCCTCCCTGCTGAGCTCGCGGCTCACGCTGAGAGGGACACGCAGTGACGAGCGGCCGAAGCAGCTTTGCG|AATGACCCCACCTGGACTCCTGCCTCAAGACTTAACATCCTGTGGCCCTATGCAGAGGCAGACTCATCACACCAGGACTGTTTTTCACACTCCAATCATTTTTTTTTCCCTGACCAATCAACATTCCCCATTCCCTAGTCCCCCACCCATCAAACTATCCTTGAAAACCCTAAACTCCAAGCCTTTGGGGAAATACATCAATTTGAATAATAACTCTGTCTCATGCATGGCATGGCCAGCCTCCTG . 09CO013 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 10 0 24 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCT(CTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO013 ENSG00000079785.15 ENSG00000223536.6(79842),ENSG00000224604.1(4411) +/+ ./- chr2:15630110 chr2:16849409 CDS/splice-site intergenic inversion 12 6 0 184 39 high out-of-frame . DEAD/DEAH_box_helicase(100%),Helicase_conserved_C-terminal_domain(100%),SPRY_domain(100%)| . . ENSG00000079785.15 . ENST00000381341.6 . downstream downstream duplicates(3) ^(GGCTCAGATCCCACGCTGCCATTCGGTAGATATGTGTCTTTAGATAAGTGACTTAACTTTCCCGAATTTTAGAGTCCTCATCTAAAGATTCTAATACCTTCCTGACAGA___CTGTGACCCTGATACCGCGTGGTGTGCTCCGAACACATGGTGCCCAGAACGAAGGCGGCGTCCAGAAGCCCTAGGTCCCAGAGGTCCGCTCAGCGGCAGGCGCATAAGGCGGGGCCGGCGCGGGCCTTTCCTTCCATCGGAACCGTTCTCCCGGGGCTGAGTCCCTGCCCGGACTCCGAACGCCGAAGACCAGGGGCCGGAAGCGCGCGCCGCCACTGCCACGCCGTGTCAGTCGGGAGGGAGGGAGCGAGCAGGCGAAGCCGCGGAGGACGGGGTGAAGATGGCGGCCTTCTCCG___AGATGGGTGTAATGCCTGAGATTGCACAAGCTGTGGAAGAGATGGATTGGCT___CCTCCCAACTGATATCCAGGCTGAATCTATCCCATTGATCTTAGGAGGAGGTGATGTACTTATG___GCTGCAGAAACAGGAAGTGGCAAAACTGGT___GCTTTTAGTATTCCAGTTATCCAGATAGTTTATGAAACTCTGAAAGACCAACAGGAAGGCAAAAAAGGAAAAACAACAATTAAAACTGGTGCTTCAG___TGCTGAACAAATGGCAGATGAACCCATATGACAGAGGATCTGCTTTTG___CAATTGGGTCAGATGGTCTTTGTTGTCAAAGCAGAGAAGTAAAGGAATGGCATGGGTGTAGAGCTACTAAAGGATTAATGAAAG___GGAAACACTACTATGAAGTATCCTGTCATGACCAAGGGTTATGCAGGGTCGGGTGGTCTACCATGCAGGCCTCTTTGGACCTAG___GTACTGACAAGTTTGGATTTGGCTTTGGTGGAACAGGAAAGAAATCCCATAACAAACAATTTGATAATTATGGAGAG___GAATTCACTATGCATGATACCATTGGATGTTACCTGGATATAGATAAGGGACATGTCAAGTTCTCCAAAAATG___GAAAAGATCTTGGTCTGGCATTTGAAATACCACCACATATGAAAAACCAAGCCCTCTTTCCTGCCTGTGTTTTGAAG___AATGCTGAACTGAAATTTAACTTCGGTGAAGAGGAATTTAAGTTTCCACCAAAAGATGGCTTTGTTGCTCTTTCCAAGGCACCGGATGGTTACATTGTCAAATCACAGCACTCAG___GTAATGCACAGGTGACACAAACAAAGTTTCTCCCCAATGCTCCGAAAGCTCTCATTGTTGAACCTTCCCGGGAGTTAGCTGAACAAACTTTGAACAACATCAAGCAGTTTAAGAAATACATTGATAATCCTAAATTAAG___GGAGCTTCTGATAATTGGAGGTGTTGCAGCCCGGGATCAGCTCTCTGTTTTGGAAAATGGA___GTAGATATAGTTGTAGGTACTCCGGGAAGACTAGATGACTTGGTGTCAACTGGAAAGCTGAACTTATCTCAAGTTAGATTCCTGGTCCTGGATGAAGCT___GATGGGCTTCTTTCTCAAGGTTATTCTGATTTTATAAATAGGATGCACAATCAGATTCCTCAGGTTACCTCTGATGGAAAAAGACTTCAG___GTGATTGTTTGCTCTGCCACTTTGCATTCTTTCGATGTAAAGAAACTGTCCGAGAAGATAATGCATTTTCCTACATGGGTTGACTTAAAAGGAGAAGACTCTGTTCCAGATACTGTACACCATGTTGTTGTCCCAGTAAATCCCAAAACTGACAGACTCTGGGAAAGGCTTGGAAAGAGCCACATTAGA___ACTGATGATGTACATGCAAAAGATAACACAAGACCTGGTGCTAATAGTCCAG___AGATGTGGTCTGAAGCTATTAAAATCCTGAAAGGGGAGTATGCTGTCCGGGCAATCAAGGAACATAAGATGGATCAAGCAATTATCTTCTGTAGAACCAAAATTGACTGTGATAACTTGGAGCAGTACTTTATACAACAAGGAGGAG___GACCTGATAAAAAAGGACACCAGTTCTCATGTGTTTGTCTTCATGGTGACAGAAAGCCTCATGAGAGAAAGCAAAACTTGGAAAGATTTAAG___AAAGGAGATGTAAGATTCTTGATTTGCACAGATGTAGCTGCTAGAGGAATTGATATCCACGGTGTTCCTTATG___TTATAAATGTCACTCTGCCCGATGAAA)AGCAAAACTACGTACATCGAATTGGCAGAGTAGGAAGAGCTGAAAG___GATGGGTCTGGCAATTTCCCTGGTGGCAACAGAAAAAGAAAAG___GTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAG___TTACTATCTGAGATAGAAGAACACCTGAACTGTACCATTTCTCAGGTTGAGCCGGATATAAAGGTACCAGTGGATGAATTTGATGGGAAAGTTACCTACGGTCAGAAAAGGGCTGCTGGTG|GATCTACTAAAACAATGAGCCAGTTATTCTTCCAGAAAGCTTCTTCAAGTAGCCAAAGGAACCCTCATTTTGCAGAGATCTCTGAAGTCATCTGAGGTTTAAATGATTTACTGGTAGAAATCATTTTGTTAAACAATTTCAGGTCACTTATGACCACCCCTATAAGGGGAAATTACTGTGTCTTTAGGATGGAGGCAAGATATTTTCTGGCTTTTATGCAAGTACAATCTCAAGGGTAGACACGGTGCCCATAG MAAFSEMGVMPEIAQAVEEMDWLLPTDIQAESIPLILGGGDVLMAAETGSGKTGAFSIPVIQIVYETLKDQQEGKKGKTTIKTGASVLNKWQMNPYDRGSAFAIGSDGLCCQSREVKEWHGCRATKGLMKGKHYYEVSCHDQGLCRVGWSTMQASLDLGTDKFGFGFGGTGKKSHNKQFDNYGEEFTMHDTIGCYLDIDKGHVKFSKNGKDLGLAFEIPPHMKNQALFPACVLKNAELKFNFGEEEFKFPPKDGFVALSKAPDGYIVKSQHSGNAQVTQTKFLPNAPKALIVEPSRELAEQTLNNIKQFKKYIDNPKLRELLIIGGVAARDQLSVLENGVDIVVGTPGRLDDLVSTGKLNLSQVRFLVLDEADGLLSQGYSDFINRMHNQIPQVTSDGKRLQVIVCSATLHSFDVKKLSEKIMHFPTWVDLKGEDSVPDTVHHVVVPVNPKTDRLWERLGKSHIRTDDVHAKDNTRPGANSPEMWSEAIKILKGEYAVRAIKEHKMDQAIIFCRTKIDCDNLEQYFIQQGGGPDKKGHQFSCVCLHGDRKPHERKQNLERFKKGDVRFLICTDVAARGIDIHGVPYVINVTLPDEKQNYVHRIGRVGRAERMGLAISLVATEKEKVWYHVCSSRGKGCYNTRLKEDGGCTIWYNEMQLLSEIEEHLNCTISQVEPDIKVPVDEFDGKVTYGQKRAAG|gstktmsqlffqkassssqrnphfaeisevi* 09CO013 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 5 0 171 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTA)TGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO013 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 14 0 18 96 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09CO013 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 13 10 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CGGAGCCGGAGGAGACGAAGGGAAGGTGGAGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...ATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCcTGGGC(AGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 09CO013 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 6 0 41 14 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGA)AGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09CO013 ENSG00000115761.16 ENSG00000163798.13 -/- +/- chr2:10667218 chr2:27677850 CDS/splice-site CDS duplication/5'-5' 3 1 0 120 93 high out-of-frame . . . . ENSG00000115761.16 ENSG00000163798.13 ENST00000381685.10 . upstream downstream . ^(AGTCGGCGCCAGCGGCCGCACGCCGCGGAGCAGGGGCTCGGAGGTCCCGGGATTACGGTGCTCGAGCACGCTGGTGGGAAAGGACCCGGGACTTGAACAGTGTTGTGCGGCGCCATGCAGGTCTCCAGCCTCAATGAGGTGAAGATTTACAGCCTCAGCTGCGGCAAGTCCCTTCCTGAG___TGGCTTTCTGATAGGAAGAAGAGAGCGCTACAGAAGAAAGATGTAG___ATGTCCGTAGGAGAATTGAACTTATTCAGGACTTTGAAATGCCTACTGTGTGTACCACTATTAAGGTGTCAAAAGATGGACAGTACATTTTAGCAACTG___GAACATATAAACCTCGGGTTCGATGTTATGACACCTATCAATTATCCTTGAAGTTTGAAAGGTGTTTAGATTCAGAAG___TTGTCACCTTTGAAATTTTGTCTGATGACTACTCAAAG___ATTGTCTTCTTACATAATGATAGATACATTGAATTTCATTCGCAATCAGGTTTTTACTACAAAACCAGAATACCAAA)GTTTGGGAGAGATTTCTCTTACCACTATCCATCCTGTGACTTGTACTTTGTTGGTGCAAG___TTCTGAAGTTTATAGGTTAAACTTAGAACAAGGACGATACCTGAATCCTCTACAAACTGATGCTGC___GGAGAATAATGTTTGTGACATAAATTCAGTGCATGGCTTGTTTGCCACAGGAACCATAGAG|TTCAAAAGTTCTCAGGTGAAGTTTCTTCCGGGACACACCATCTAATGTACTGCCTGATTTCATTTCTGACATGAACGCATCTAAAGAATCCTGAGATGGAG MQVSSLNEVKIYSLSCGKSLPEWLSDRKKRALQKKDVDVRRRIELIQDFEMPTVCTTIKVSKDGQYILATGTYKPRVRCYDTYQLSLKFERCLDSEVVTFEILSDDYSKIVFLHNDRYIEFHSQSGFYYKTRIPKFGRDFSYHYPSCDLYFVGASSEVYRLNLEQGRYLNPLQTDAAENNVCDINSVHGLFATGTIE|fkssqvkflpghti* 09CO013 ENSG00000234585.6 ENSG00000144451.19 +/- +/- chr7:65070967 chr2:213503328 exon intron translocation 1 4 0 21 10 medium . . . . . ENSG00000234585.6 ENSG00000144451.19 . . upstream downstream . GACTGTTTAAGGCATACACACCTTGGGAATAACGAGCAACGCATCAGCAAATGCTTGGACTCCAAGCTGTGCCTTGCCCTTTACACTGAGCTTATAT|GATGGTGAGGCACATAAAGAAGGTAGGCAAAGAGCAAAACCCTACATCCCTCCTTTCTGAGGAAATCAACATTTCAATGTCTTCACCCATTGCTTAACTCATATATTCTCAATCAGAGCAAAGCTGCCCCAACAGAGGCAAAAAATTGATTCATGG...ATATATAGATGGGAATCAAGGGTAAATGTCTAAGGTTGAGAAACTGGCTAACTCATACTTATTAAGAAGAGTCTTTAAAACTCACCTATATTTGACCCTTCTGTTGTACATATGACTTGACTAGAAAATTCAGACTCACTGTTTTCTAG . 09CO013 ENSG00000163249.12 ENSG00000118260.15 +/+ +/- chr2:207724874 chr2:207549966 CDS/splice-site intron inversion/3'-3' 0 2 0 25 8 medium out-of-frame . . . . ENSG00000163249.12 ENSG00000118260.15 ENST00000295414.7 . downstream downstream mismappers(2) ^(GTGCGGCCGAGGCCCGAGCCCTGCCCGGGGCCGGGCCGCGGGGCGGGCGGGCGAACCGCGGGCGAGGCGGCGTCTGCTTGCGCGGTGCAGCCCCAGCGTAGCCCGGGGCTGCCGGTGCCGGCCGCGCCATTGTTGGGGGAGGGGGCGGCTGTTGAGGGCGGCGGAGTAGGGGGCGAGCGAAGGCGGTGGCAGAGAGGAGCGGAGGCTTCCCATGGGGAACACGCTGACCTGTTGCGTGTCCCCCAATGCCAGCCCCAAGCTGGGCCGGCGCGCGGGGTCGGCGGAGCTGTACTGCGCGTCCGACATCTACGAGGCGGTGTCCGGGGACGCGGTGGCGGTAGCGCCCGCTGTGGTGGAGCCTGCCGAGTTGGATTTCGGAGAG)GGCGAGGGCCACCACCTGCAGCACATCAGCGACCGCGAGATGCCCGAAG___ATTTAGCTTTGGAGTCAAACCCTTCTGACCATCCAAGGGCAAGCACAATTTTCCTGAGCAAATCTCAAACGGATG|ATGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTGGTGGCACAATCTCAGCTCACTGCAACCCCCGCCCCTTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG___AAAAAACTCACCATCAATTCCTTAGACCTCATCCTCTCAAAACCTCaCC MGNTLTCCVSPNASPKLGRRAGSAELYCASDIYEAVSGDAVAVAPAVVEPAELDFGEGEGHHLQHISDREMPEDLALESNPSDHPRASTIFLSKSQTD|dgvslfrpgwsvvaqsqltatpapwvqavllpqppe* 09CO013 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 2 0 89 9 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream . ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGTGTTCAAGGCAAGACCGA)ATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGGCCGAATGGCCTTCACCCTCCATTAACCCTCGCCTCCTTCAGAAGCCAGTGCCTCTGGAAATGCCTGGATCTGCGACCCCAGCCTGAGC . 09CO013 ENSG00000267322.2 ENSG00000166004.15 +/+ +/+ chr18:49814062 chr11:93721954 exon/splice-site CDS/splice-site translocation 0 2 0 3 24 medium . . . . . ENSG00000267322.2 ENSG00000166004.15 ENST00000589499.1 ENST00000325212.11 downstream upstream . ^(AGAG)GCTTGGGCCGCCGAGCTGGACCCGGACCGGTTTTGG|GCTAAAACACTGTCTTATGAACCATTATCTTCAGCAACTGTTTCCACTGGGAG(CCTTTTAAGTTATGAAAACACAGATTTGAGCCTTACAGATCCAG___AGTCATTTTCAGAGCACATGGATGATAGCAAGCAAGAATCTACCACCAGTAAAGAAGAGGAAACAAATATTATAAGTTCCATAGTTCCTTCAACACAAGATATTTATCAGCGGCAGAACTCTTCAGACGTTCATAAATCTCTGTTGCCTGCAGTGGATGAAACTACATGTGGTCACACACACTTTCAGCAAATGATAGACAAGTACATTAATGAAGCAAATTTGATACCTGAAAAAACAGATTTGCAAG___AATTGGAACACATTTTTCCTAATTTGCATCATCAGCTGTTTAAACCCTTAGAACCACATCCAGATTTTGACTTATCATCATCATCCTCTGGGATTTCTCCAGACAACAGAGACTTTTACCAG___AGATCAGATTCTTCATCTGAAAGCCACTGTGCTACTGGATTATCCAAAAGTACAGTTTATTTCACAGCACTGAGGAGGACCAGCATGCATTCTTCTCTTAACACAAGTCCGAATCAACAACCTGACACTAACTTGGCTCATGTTGGAGCTCACAGTTTTGCTACAGAAAATATTATTGGGG___GATCTGAACAATGTTTTGAACAGCTTCAGCCAGAATATTCTTCACAGGAGGAGAGCCAGCATGCTGATCTACCAAGTATTTTTAGCATTGAAGCAAGAGATTCTTCCCAAGGCATGAAAAATCAGAACTATCCCTCTGAAGAACATACTGAAATATTACAAAACAAGAAAAAAATTGTTCATTTCCAGCTTTCTATAGGAAACTTAAGTTCAGTCTACAGTTCATCTGATGAAGCTAATGTATTTGATCAGTTAAATGTACAGCATAGCACTCCATGTGGTTCTAACTCTAGTGAGTGCTCAACAAAACACCAACTAGAAAGCAGAAAGGAAAGTATGGGCTTTGAAGAACTATCAAAAAGAGGGGTTGTTACAATGTTACAAAGTCAAGGACTCATTGAAGATAATAAAAATGAAACCTGTAGGGTTTTAGACATAAATCCACAGGTAGAGGAAACTGACTCTCGATTATGTGTAAGAACAGTGGAGATGGGAACTTCAATTCAGGCACCATATTCCTTAACTACTCAAAATGAAAAATATTTTGAGAATTCAGCTGAAACAGACATTCCAAAAATCACCAAAAAACTATCTCAACTAGGAGAATCAGAGCTTTTTGCAAGTTCTGGATCATTTTCATTACAGAGCTCTATACCAGTCTGG___GAAACAGAAACTGGCCATGGTATAATGGAAGAACCAGAACTTACTTTAATAAGCACCACTGATACCAGTATTGCTGAAATGGATTTTGCAAATTTAACCCTAGAAGAGAAGAGCGAGAATGAAGCAAAATGCTTCTTTCAG___GTGAGTGAGTTTCTGCCTCTTGTATCAGCAACAGAAGCCTCAGATTATCCAGCTGTATCAGAACTTTCCATAGAAAAACCAAGGACAGCATCTACAG___AAACCCCTCGCAGGCTTACACCTGTACCAGGGAGCTTACAAGAAGCATTTATAAAGAGGAAAAAATCATTTATGGAGAGATCCCACCAGAGGCAGAAAGAAATAAGGAATAAAATTCATGTCTCTGAAAATTCTCAAATCAAAACAGTTAAAGAGAAACCATCTATAA___GTTCATCTGTGAGTCGTCTAAAGGGCGTGAATAAAGTCAGAGCATCTTTTCCTGAAGACAGAAAGACTACACAGGCTCTAAGGCACCAAAGGGGTCTAAG___GTTATACAATCAACTAGCTGAAGTGAAACAACAAAAGGAAGAAAAAACAAAACAAGAAGCTTATGCCCAAAACAGAGCAAGGGCAAAAGAATTCCATAAG___AAAACACTAGAGAAACTTCGAGCCAAAAATACATGCTGACTTTCTAGAAATAGTGTAAAGGTTTTTTAATTGTGTATATGTAGCATTAGACAAAATTATTTAAAGTCAATAAATTGTTATTCGAGGAA)$ . 09CO014 ENSG00000100380.14 ENSG00000100387.9(16847),ENSG00000222698.1(55341) -/- ./- chr22:40844839 chr22:40990156 CDS/splice-site intergenic duplication 93 1 0 1314 82 high out-of-frame . . . . ENSG00000100380.14 . ENST00000216218.8 . upstream downstream duplicates(7),mismatches(2) ^(CTTGCGGCAGCCGCCCCCTTCTGCGCG)GTCACGCCGAGCCAGCGCCTGGGCCTGGAACCGGGCCGTAGCCCCCCCAGTTTCGCCCACCACCTCCCTACCATGGACCCCCGCAAAGTGAACGAGCTTCGGGCCTTTGTGAAAATGTGTAAGCAGGATCCGAGCGTTCTGCACACCGAGGAAATGCGCTTCCTGAGGGAGTGGGTGGAGAG___CATGGGTGGTAAAGTACCACCTGCTACTCAGAAAGCTAAATCAGAAGAAAATACCAAG___GAAGAAAAACCTGATAGTAAGAAGGTGGAGGAAGACTTAAAGGCAGACGAACCATCAAGTGAGGAAAGTGATCTAG___AAATTGATAAAGAAGGTGTGATTGAACCAGACACTGATGCTCCTCAAGAAATGGGAGATGAAAATGCGGAG|GACAAGCTCCATGGAGGATGTGGGCAAAACACCATCTTTTTCTTTTCTTTTGAGACAGTTTCCTTTTGTCTCCCAGGCTGGTGCGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCCAGGT MDPRKVNELRAFVKMCKQDPSVLHTEEMRFLREWVESMGGKVPPATQKAKSEENTKEEKPDSKKVEEDLKADEPSSEESDLEIDKEGVIEPDTDAPQEMGDENAE|dklhggcgqntifffsfetvsfclpgwcvqwhhlgslqppppr 09CO014 ENSG00000143153.13 ENSG00000227373.6 +/+ -/- chr1:169106926 chr1:174155697 CDS/splice-site exon/splice-site inversion 16 11 0 515 45 high out-of-frame . Sodium_/_potassium_ATPase_beta_chain(100%)| . . ENSG00000143153.13 ENSG00000227373.6 ENST00000367816.5 ENST00000665650.1 downstream downstream duplicates(2),mismatches(1) ^(GCCCACAAGGGGCACAGCCGGGCAGTCAGGAACCGGGGCTGCCGGCTGGGCTGGCCTGCAAAGAAGAGGGAAGGGCCGGAACTGCAACCGCAGTGGCGGGGAGTGCGAGGGGGCGGCAG___AGGTCAGGGGAGGCGGGGGCCCAGCACACGTCCCCAGTGGCAGCGGGAGCGGCAGCTACGGGTTCGCGGAGCCCCCGACCCCCCAAGGGCTAGAGGAGCGCTCGGCGGACCAAAGAAAGCCCGCGAGCGGCTGCGCGCCCACCAATAGGTGCGGGGCTCGGAGCCGCGCAGCCTGCGCCGTCCCTCCCTCCGCCCCCGCCCCGCCGCCGCCGCCGCCGCCGCCTCCCCCTCCTCCTGCTCCTGCCTTGGCTCCTCCGCCGCGCGTCTCGCACTCCGAGAGCCGCAGCGGCAGCGGCGCGTCCTGCCTGCAGAGAGCCAGGC)CGcAGAgagCcAGCGGCGCAGAGGcCGCCAGGGCGCGCGCCGCAGCCACCCACCCTCCGGACCGCGGCAGCTGCTGACCCGCCATCGCCATGGCCCGCGGGAAAGCCAAGGAGGAGGGCAGCTGGAAGAAATTCATCTGGAACTCAGAGAAGAAGGAGTTTCTGGGCAGGACCGGTGGCAGTTGGT|GAAGATTTGGAAAAGAGGCACTGGCTACTGGAGGAAGGGAGAAATCACCGAGAGAGCGAAAGATGTAACAG___ATGCAGTGACTCATGCCTATAATCCCAGTACTTTGGAAGGTCAAGGCACAAGGATCCATTGAGGCCAGGAGTCCAAGACCAGCCT(GCACAATGTAGCAAGACTCCTTCTCTACAAAAAAATAAATAAAAATTAGCCAGGCATGGTGGTGCACTCCTGTAGTCCCAGCTACTCAAGAGGCTGATGTAGAGAATCGCATTATCCCAGAGGTCAAGGCTGCAGTGAGCCGTGATCATGCCTCTGCACTCCAGCCTGGACGATAGAGCAAGACTTTATCTCAAAAAACAAAAATTTAAAAAGATATCAGGTAGCTCATAGAATTGTTGAGAGGGCTGTAAAACCAGGCTTGAACTTAAACAGCAACGATAAACCACCCACAGAACGGACATGATGAAGAAGTTGGCAAATGTTACCAACTGTCCTGGTTTTTTTGGTGACTGTAGTTTCCAAGGATTCAGATCCTTCCATGCCAAAATCTGAAAAATGCTGGGCAAAGTATGACTGACAATGTGGTAATCTTACAGCTAGCACTAGAGACATCAAGCACTAGACAACACAATTTGCCCTTTGGCCACTTATACAATGGGAACTCACGCTTGCAGTAACCTCTATTGCCACTAGGAGAGAGAAACACAGAAGGAGGAAGGGAGAAGGGAGAGAGAGGAAAAAAACTGTTGCTTGTCTCCTTAGCTGTGAGTCAAAGGTCTAACACAGATGTCTGGCTGAAAAGCCTAGGTCACATGCCTGCACCCCAGAGAAAGTATGTGACATCTTCTGCTTCCATTATGGGAAACAGCCTTTGCTTGTCACGAAGATTTACATGGTGAGACATATCCTAAATATAGGGAAGCTGTTGAAGTGGCCCAAATAATGACCAATTTCTACTAATTTGTACTAATATCCAAATTACTTTTAATTATCTAATATTACTTAGATACAGTGAGGCAACCATTCGTTGGATATATAATGGTTTCTTTGATTTCAAAAATCTTTTTTTATGTAATATATGTCTGAAGACCATCAAAATAAATTCTTAAAGTCAGATTAATAGGATGTTACTTATAATATTATTGTAATTATTTGACCACATAATAGTTTATGCCCATTATATACTATGTAATTGTATGATGGAAATAATGCTGTACTTTGTTTGTAAAAGTTTAATTATCCTGACCTTTGTTCATCATAAAGAATTGCTCCATTTCTATTATTTATCGAGGAAAAAAGTTTCTCTCTTTTTGTTTTTAATATGTCATTAGGAGAAGAGTAGTTACACGTAGGCTAGAGTGTTTGCCAAGAAGAAATTGATTTTAATGGGAACCTTTTATCTAAGACAAACTTTAAGAAGAGCAGTAATGGACAATGTGTTCTGTGCAACTCTTCAGCCTTCAGTCTCACATTCATTGTGGTCAAGTATTTTCAGCAAAGAATAACAAGTCAGAGTTTGTGTATATTTTTCATAGCTGTTCATTCTCTTACAGAGTAACCTTGAACAAACCTCTTAAGATTTGTGTTTTATCTTCATATACTGAAATACAAAATGGGAATGCCTATATTTAATCAAAGATATAATTTTTACTGATAGATAGTAAAGAACAAAACACTGGAACAAGAATTCCTGTCCTGCCTTTCACAATGTGGTTTTGAGGCCTTGGCCATGTCACTTAAATTCTCATATCTGTTTTCTCAATCTATAAATGATCATAATACCTGCACTATCTGTCTCAAATTGCATATGTGAAAGCATCTTAAAGGTACAAAACAATAAATACAAAGCATTATTATTAAATTATTACACCTTCCAGCATTTAATGCTAAAAATGCCAAATGCGTCCTTTGGTTATATGTAGGAAATATGTCTCAGAAAAATCAATTTAAAATTATAGAAGCTAACAGGTAAGTCATTTTAAGTGTGTGGTTATCTTCTGCATGGCAGATTTTTAAATGGTAATTATTAATGAAGTTTTCCTATACTTACTGTTTCCAAGACTCCATTCTTTCCAAAGTTTTCTGAGTTATGCTTATCATCCCTTAAGTCTTAGGGATGCTCTTCTGAGCTTTTGGGGTTTGTTTAATTGATATGTCATAGTTGTACATATTTTAGGAGTTCTTGTGATATTTTGATACATGTATATAATGAGTAATGATAAAATCAGAGTAATTGGGATATCCATCACTTCCAACATTTGTCTTTGTGTTGGGAACATTAAAATTCTTCTCTTCTAGTTATTTTGACATATGCAGTGAATTATTATTAACTATAATTTCCCTACAGTACTATCAGATACTAAGACTTATTTCTTCCATCTAGCTATATTTTTGTACCCATTAACCAACCTCCCTTCCTTCCCTCCCCAGTCTCTGGTAATCACTATTCTACTCTCTACTGAGATTTTTTTAAACCTAAGATATCAAAAATAAGCTTCCATACAGGAGACAACAATTAACACAGCAAATAGAAAGTAGAATTGTTCTATGTAAAATAATTACACCCTCTTAGAGGCATAGAATATGACTCTATTTATAAGAGGGAACAAATGAAGAGGAGAAGAATGTGTTGAAAGAGATTTCCTTGACAAATACATCGTATCTACTTTGTGAAATTACCAAGTGCCTAAGGACTAGTAAAGTACTCAAATAGCCCCTATAAAGAGGCTTCTTTGTTTCTTTGATCTCTGGCCCTTTAAATAGTGTCTGGATAATCTCATATTAACTCCTGAGAGCTGTGAATTTATAGATTTAAAACTACTGATGCAGGACAGCTATGCAATTAATCGAGACACCAAAAATACAAGCAGGCAGACAAGATGCTTATTCTGCCAGCTCCACAATTTGGACTCTTCAGTAGGAAAAAATATCTCAAGCCTACTCCTTTAAAAAAGTTCTGTTTCTCAACTTTCACTGTCTAAACCTAAATAGAATTCCTTTCTATTTTTAATCCCCTTTCAACAAAGCGAAAGCTGAATTTACACACCAGTTTTTGTCTTTTATCCATCAACACTTTAGTTGAAGACAAACTACACTGCTCGTTAATCTCAAGTGGGATAAACCTTTCTGACTTTTTTCTCACACCTACTCAGTGTGTATTTTTCACAAAAGTTTAGTTTAGGGTAAATAATCTGAAGAGGTGGTATGCCTGATTCTCCGGGTGACCTTGGCAATCTCTCAGATTCTTTTCCTAGAGAATGTAATATAGTTAATAGATAGAGTAATCCAGTTATTAAAGAACTATATGTACTGCTGGGTGCAGTGGTTCATGCCTATAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGGATCGCTTGAGCTTAGGAGTTCGAGATCAGCCTGGGCAACATGGTGAAACCCTGTCTCCACAAAAAATACAAAAATTAGCCAGGCATGGTGGCGTACTCCTGTAATCTCAGCTACTTGGTGGGCTGAGGCTGGAGGATTGCTTGAACCTGGTAAGCAGAGGTTGCAGTGATCCGAGATTGTGTCACCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAACAAAAACAACTATTATGTACTATAATTGATTTTTAAAACTATGTTATCTGTCTTGTCCAAGATAAGTACTCCAAAAAAACTGTTGATTTATCTTCATCCATTTATGCTACTATTACAGATACCACAGACTAGGTTATTTATTTATTTATTTATTTATTTTTTCAAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTACTTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCAAGCCTTCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCAGAAGACCCACCTGCCCCGGCCTCTCAAAGTACTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCAGACTAGGTAATTTATGAACAATAGAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCTAAGATCAAGGCAATGGCAGATTTGTTGTCTGGTGAGGGTCCAGTCTCTACTTCCAAGATGGTGCCTTGTTGCTGCATCCTCTGGAGGGGAGGAACACTGTGTCCTCACATGGTGGAAAGCAGAAGGGCAAAGGGACAACTGCCTCCATCAAGCCTTTTTACAAGAGCATCCAATCACAGGGGAGAAGCCCTCATGGCCCAATCACTTCTTAAAGGCACCACATTGACAATACCTGAATTTTGGAGGGCATATATTCAAACCACTACATTGTTGATTTCTTGATTGGGAGGTAATGTTTTGACTCATAGCAAGGGAAAAAGCAGATCTCATTTGTAAAGTGAAATATTCCACTCAGGATTGTTTATACATTAACTGAGACTAAAAAGCAATTTGATTTGGTTCTTCTTAAGTCTTATACACACAATATCCTACATATTAATAAAAATACAATGCAAATAATGCCACATTGTGTCCTGAAGTATAAGAAAGAAGTATAAGAAATAATCCCTGATCTCAATTTTACAGAGTGGTAATGGCTTATAACTTCTGACACATTTAAAAGGATTCCATTCAAAAAACAATTAAGTGTCTTTACCATGTACAAGGCATGGTAAACAAAATAACTATTTCGGTGTCCTAAGTAATGCCTCTGAAATATTGTGATTATAAATTAACTTTGTGTCTTTATTTTTAAAAGTCAACAAATTTTATGAGATATGTTAAAATAAAGAACAGCTCTCAATTGTTCTTCCACCCATCATTTCCCTGTGTCCAAAGACAACTACATTTACCTCTAAATGATTCTCTTCATATGTACCTCCATACTCTAGATAACATGTTTGTCTTGCTATGTCATATTCTTTTAGTTGTAGGCATTCCCTATGGTCTTTCCTCTCCACACCACAATTAAACACAGACATACAAAGCAGTTATCATTCTTATCACAATATAGTGATATAATTTTGGTTAGATAAATATATAGTGTTTCTATTATTATGACTATATATGCTTTCAGAATGGAGCAATATAGTCAACTATAATCATTTTCCTTTCCTAGAAAATATTTTGCTTTCCCTACAGCTAATAATTTTTGTGTGTGTTTAACTTCCTAATTTCTAATTCAATCAAACTCTCTTACAGTTGTTTAAATTCACATATTCTATCAATTTATTTATTTCATCTTCCTAAATATTTCTGTCCCAGGGTTTATGAAGTGCCTTAACCTTGACTTGTCACATAGCTGTCATCCTAGGGTCTCCCTTGATAAACATCTTGGAAAATCCTTTCACTTCTCTCCTAGGACAGGGCTCCTGTTTTGATGATGCACACCTTTGGTAACTTCCTCAGAGAG)$ MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSW|* 09CO014 ENSG00000143153.13 ENSG00000227373.6 +/+ -/- chr1:169106926 chr1:174115649 CDS/splice-site exon/splice-site inversion 3 3 0 515 56 high out-of-frame . Sodium_/_potassium_ATPase_beta_chain(100%)| . . ENSG00000143153.13 ENSG00000227373.6 ENST00000367816.5 ENST00000665650.1 downstream downstream . ^(GCCCACAAGGGGCACAGCCGGGCAGTCAGGAACCGGGGCTGCCGGCTGGGCTGGCCTGCAAAGAAGAGGGAAGGGCCGGAACTGCAACCGCAGTGGCGGGGAGTGCGAGGGGGCGGCAG___AGGTCAGGGGAGGCGGGGGCCCAGCACACGTCCCCAGTGGCAGCGGGAGCGGCAGCTACGGGTTCGCGGAGCCCCCGACCCCCCAAGGGCTAGAGGAGCGCTCGGCGGACCAAAGAAAGCCCGCGAGCGGCTGCGCGCCCACCAATAGGTGCGGGGCTCGGAGCCGCGCAGCCTGCGCCGTCCCTCCCTCCGCCCCCGCCCCGCCGCCGCCGCCGCCGCCGCCTCCCCCTCCTCCTGCTCCTGCCTTGGCTCCTCCGCCGCGCGTCTCGCACTCCGAGAGCCGCAGCGGCAGCGGCGCGTCCTGCCTGCAGAGAGCCAGGC)CGcAGAgagCcAGCGGCGCAGAGGACGCCAGGGCGCGCGCCGCAGCCACCCACCCTCCGGACCGCGGCAGCTGCTGACCCGCCATCGCCATGGCCCGCGGGAAAGCCAAGGAGGAGGGCAGCTGGAAGAAATTCATCTGGAACTCAGAGAAGAAGGAGTTTCTGGGCAGGACCGGTGGCAGTTGGT|ATGCAGTGACTCATGCCTATAATCCCAGTACTTTGGAAGGTCAAGGCACAAGGATCCATTGAGGCCAGGAGTCCAAGACCAGCCTGCACAATGTAGCAAGACTCCTTCTCTACAAAAAAATAAATAAAAATTAGCCAGGCATGG(TGGTGCACTCCTGTAGTCCCAGCTACTCAAGAGGCTGATGTAGAGAATCGCATTATCCCAGAGGTCAAGGCTGCAGTGAGCCGTGATCATGCCTCTGCACTCCAGCCTGGACGATAGAGCAAGACTTTATCTCAAAAAACAAAAATTTAAAAAGATATCAGGTAGCTCATAGAATTGTTGAGAGGGCTGTAAAACCAGGCTTGAACTTAAACAGCAACGATAAACCACCCACAGAACGGACATGATGAAGAAGTTGGCAAATGTTACCAACTGTCCTGGTTTTTTTGGTGACTGTAGTTTCCAAGGATTCAGATCCTTCCATGCCAAAATCTGAAAAATGCTGGGCAAAGTATGACTGACAATGTGGTAATCTTACAGCTAGCACTAGAGACATCAAGCACTAGACAACACAATTTGCCCTTTGGCCACTTATACAATGGGAACTCACGCTTGCAGTAACCTCTATTGCCACTAGGAGAGAGAAACACAGAAGGAGGAAGGGAGAAGGGAGAGAGAGGAAAAAAACTGTTGCTTGTCTCCTTAGCTGTGAGTCAAAGGTCTAACACAGATGTCTGGCTGAAAAGCCTAGGTCACATGCCTGCACCCCAGAGAAAGTATGTGACATCTTCTGCTTCCATTATGGGAAACAGCCTTTGCTTGTCACGAAGATTTACATGGTGAGACATATCCTAAATATAGGGAAGCTGTTGAAGTGGCCCAAATAATGACCAATTTCTACTAATTTGTACTAATATCCAAATTACTTTTAATTATCTAATATTACTTAGATACAGTGAGGCAACCATTCGTTGGATATATAATGGTTTCTTTGATTTCAAAAATCTTTTTTTATGTAATATATGTCTGAAGACCATCAAAATAAATTCTTAAAGTCAGATTAATAGGATGTTACTTATAATATTATTGTAATTATTTGACCACATAATAGTTTATGCCCATTATATACTATGTAATTGTATGATGGAAATAATGCTGTACTTTGTTTGTAAAAGTTTAATTATCCTGACCTTTGTTCATCATAAAGAATTGCTCCATTTCTATTATTTATCGAGGAAAAAAGTTTCTCTCTTTTTGTTTTTAATATGTCATTAGGAGAAGAGTAGTTACACGTAGGCTAGAGTGTTTGCCAAGAAGAAATTGATTTTAATGGGAACCTTTTATCTAAGACAAACTTTAAGAAGAGCAGTAATGGACAATGTGTTCTGTGCAACTCTTCAGCCTTCAGTCTCACATTCATTGTGGTCAAGTATTTTCAGCAAAGAATAACAAGTCAGAGTTTGTGTATATTTTTCATAGCTGTTCATTCTCTTACAGAGTAACCTTGAACAAACCTCTTAAGATTTGTGTTTTATCTTCATATACTGAAATACAAAATGGGAATGCCTATATTTAATCAAAGATATAATTTTTACTGATAGATAGTAAAGAACAAAACACTGGAACAAGAATTCCTGTCCTGCCTTTCACAATGTGGTTTTGAGGCCTTGGCCATGTCACTTAAATTCTCATATCTGTTTTCTCAATCTATAAATGATCATAATACCTGCACTATCTGTCTCAAATTGCATATGTGAAAGCATCTTAAAGGTACAAAACAATAAATACAAAGCATTATTATTAAATTATTACACCTTCCAGCATTTAATGCTAAAAATGCCAAATGCGTCCTTTGGTTATATGTAGGAAATATGTCTCAGAAAAATCAATTTAAAATTATAGAAGCTAACAGGTAAGTCATTTTAAGTGTGTGGTTATCTTCTGCATGGCAGATTTTTAAATGGTAATTATTAATGAAGTTTTCCTATACTTACTGTTTCCAAGACTCCATTCTTTCCAAAGTTTTCTGAGTTATGCTTATCATCCCTTAAGTCTTAGGGATGCTCTTCTGAGCTTTTGGGGTTTGTTTAATTGATATGTCATAGTTGTACATATTTTAGGAGTTCTTGTGATATTTTGATACATGTATATAATGAGTAATGATAAAATCAGAGTAATTGGGATATCCATCACTTCCAACATTTGTCTTTGTGTTGGGAACATTAAAATTCTTCTCTTCTAGTTATTTTGACATATGCAGTGAATTATTATTAACTATAATTTCCCTACAGTACTATCAGATACTAAGACTTATTTCTTCCATCTAGCTATATTTTTGTACCCATTAACCAACCTCCCTTCCTTCCCTCCCCAGTCTCTGGTAATCACTATTCTACTCTCTACTGAGATTTTTTTAAACCTAAGATATCAAAAATAAGCTTCCATACAGGAGACAACAATTAACACAGCAAATAGAAAGTAGAATTGTTCTATGTAAAATAATTACACCCTCTTAGAGGCATAGAATATGACTCTATTTATAAGAGGGAACAAATGAAGAGGAGAAGAATGTGTTGAAAGAGATTTCCTTGACAAATACATCGTATCTACTTTGTGAAATTACCAAGTGCCTAAGGACTAGTAAAGTACTCAAATAGCCCCTATAAAGAGGCTTCTTTGTTTCTTTGATCTCTGGCCCTTTAAATAGTGTCTGGATAATCTCATATTAACTCCTGAGAGCTGTGAATTTATAGATTTAAAACTACTGATGCAGGACAGCTATGCAATTAATCGAGACACCAAAAATACAAGCAGGCAGACAAGATGCTTATTCTGCCAGCTCCACAATTTGGACTCTTCAGTAGGAAAAAATATCTCAAGCCTACTCCTTTAAAAAAGTTCTGTTTCTCAACTTTCACTGTCTAAACCTAAATAGAATTCCTTTCTATTTTTAATCCCCTTTCAACAAAGCGAAAGCTGAATTTACACACCAGTTTTTGTCTTTTATCCATCAACACTTTAGTTGAAGACAAACTACACTGCTCGTTAATCTCAAGTGGGATAAACCTTTCTGACTTTTTTCTCACACCTACTCAGTGTGTATTTTTCACAAAAGTTTAGTTTAGGGTAAATAATCTGAAGAGGTGGTATGCCTGATTCTCCGGGTGACCTTGGCAATCTCTCAGATTCTTTTCCTAGAGAATGTAATATAGTTAATAGATAGAGTAATCCAGTTATTAAAGAACTATATGTACTGCTGGGTGCAGTGGTTCATGCCTATAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGGATCGCTTGAGCTTAGGAGTTCGAGATCAGCCTGGGCAACATGGTGAAACCCTGTCTCCACAAAAAATACAAAAATTAGCCAGGCATGGTGGCGTACTCCTGTAATCTCAGCTACTTGGTGGGCTGAGGCTGGAGGATTGCTTGAACCTGGTAAGCAGAGGTTGCAGTGATCCGAGATTGTGTCACCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAACAAAAACAACTATTATGTACTATAATTGATTTTTAAAACTATGTTATCTGTCTTGTCCAAGATAAGTACTCCAAAAAAACTGTTGATTTATCTTCATCCATTTATGCTACTATTACAGATACCACAGACTAGGTTATTTATTTATTTATTTATTTATTTTTTCAAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTACTTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCAAGCCTTCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCAGAAGACCCACCTGCCCCGGCCTCTCAAAGTACTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCAGACTAGGTAATTTATGAACAATAGAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCTAAGATCAAGGCAATGGCAGATTTGTTGTCTGGTGAGGGTCCAGTCTCTACTTCCAAGATGGTGCCTTGTTGCTGCATCCTCTGGAGGGGAGGAACACTGTGTCCTCACATGGTGGAAAGCAGAAGGGCAAAGGGACAACTGCCTCCATCAAGCCTTTTTACAAGAGCATCCAATCACAGGGGAGAAGCCCTCATGGCCCAATCACTTCTTAAAGGCACCACATTGACAATACCTGAATTTTGGAGGGCATATATTCAAACCACTACATTGTTGATTTCTTGATTGGGAGGTAATGTTTTGACTCATAGCAAGGGAAAAAGCAGATCTCATTTGTAAAGTGAAATATTCCACTCAGGATTGTTTATACATTAACTGAGACTAAAAAGCAATTTGATTTGGTTCTTCTTAAGTCTTATACACACAATATCCTACATATTAATAAAAATACAATGCAAATAATGCCACATTGTGTCCTGAAGTATAAGAAAGAAGTATAAGAAATAATCCCTGATCTCAATTTTACAGAGTGGTAATGGCTTATAACTTCTGACACATTTAAAAGGATTCCATTCAAAAAACAATTAAGTGTCTTTACCATGTACAAGGCATGGTAAACAAAATAACTATTTCGGTGTCCTAAGTAATGCCTCTGAAATATTGTGATTATAAATTAACTTTGTGTCTTTATTTTTAAAAGTCAACAAATTTTATGAGATATGTTAAAATAAAGAACAGCTCTCAATTGTTCTTCCACCCATCATTTCCCTGTGTCCAAAGACAACTACATTTACCTCTAAATGATTCTCTTCATATGTACCTCCATACTCTAGATAACATGTTTGTCTTGCTATGTCATATTCTTTTAGTTGTAGGCATTCCCTATGGTCTTTCCTCTCCACACCACAATTAAACACAGACATACAAAGCAGTTATCATTCTTATCACAATATAGTGATATAATTTTGGTTAGATAAATATATAGTGTTTCTATTATTATGACTATATATGCTTTCAGAATGGAGCAATATAGTCAACTATAATCATTTTCCTTTCCTAGAAAATATTTTGCTTTCCCTACAGCTAATAATTTTTGTGTGTGTTTAACTTCCTAATTTCTAATTCAATCAAACTCTCTTACAGTTGTTTAAATTCACATATTCTATCAATTTATTTATTTCATCTTCCTAAATATTTCTGTCCCAGGGTTTATGAAGTGCCTTAACCTTGACTTGTCACATAGCTGTCATCCTAGGGTCTCCCTTGATAAACATCTTGGAAAATCCTTTCACTTCTCTCCTAGGACAGGGCTCCTGTTTTGATGATGCACACCTTTGGTAACTTCCTCAGAGAG)$ MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSW|yavthaynpstlegqgtrih* 09CO014 ENSG00000153944.11 ENSG00000002834.18 +/+ +/+ chr17:57596950 chr17:38914325 CDS/splice-site CDS/splice-site duplication 8 14 0 124 202 high in-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|Nebulin_repeat(100%),Variant_SH3_domain(100%) . . ENSG00000153944.11 ENSG00000002834.18 ENST00000284073.7 ENST00000433206.6 downstream upstream duplicates(1),mismatches(1) ^(GTGCGAGGCAGCGGGGCTGAGCTAAGCCGAGCCCACGTGTGACGGCTCTCGCCGCTGCCCCGGCTCCGCCGCTCGCAGAGAGATTCGGAGGAGCCCGGGCGGGGGGGAGGAGGAGGGGGAGGAGGGAGCGGAGATCTCGGGGCTCGGAGCCGGCCGCCGCTCCGCTCCGATCGCTGTGGGGCTTGGTTTTTTGGGGGTGGGGGGGCGGGGGGGCTCAGATATGGAGGCAAATGGGAGCCAAGGCACCTCGGGCAGCGCCAACGACTCCCAGCACGACCCCGG___TAAAATGTTTATCGGTGGACTGAGCTGGCAGACCTCACCAG___ATAGCCTTAGAGACTATTTTAGCAAATTTGGAGAAATTAGAGAATGTATGGTCATGAGAGATCCCACTACGAAACGCTCCAG___AGGCTTCGGTTT)CGTCACGTTCGCAGACCCAGCAAGTGTAGATAAAGTATTAGGTCAGCCCCACCATGAGTTAGATTCCAAGACG___ATTGACCCCAAAGTTGCATTTCCTCGTCGAGCGCAACCCAAG___ATGGTCACAAGAACAAAGAAAATATTTGTAGGCGGGTTATCTGCGAACACAGTAGTGGAAGATGTAAAGCAATATTTCGAGCAGTTTGGCAAG___GTGGAAGATGCAATGCTGATGTTTGATAAAACTACCAACAGGCACAGAG___GGTTTGGCTTTGTCACTTTTGAGAATGAAGATGTTGTGGAGAAAGTCTGTGAGATTCATTTCCATGAAATCAATAATAAAATG|ATAAAATACCATGAGGAGTTTGAGAAGAGCCGCATGGGCCCTAGCGGGGGCGAGGGCATGGAGCCAGAGCGTCGGGATTCgCAGGACGGCAGCAGCTACCGGCGGCCCCTGGAGCAGCAGCAGCCTCACCACATCCCGACCAGTGCCCCGG___TTTACCAGCAGCCCCAGCAGCAGCCGGTGGCCCAGTCCTATGGTGGCTACAAG(GAGCCTGCAGCCCCAGTCTCCATACAGCGCAGCGCCCCAGGTGGTGGCGGG___AAGCGGTACCGCGCGGTGTATGACTACAGCGCCGCCGACGAGGACGAGGTCTCCTTCCAGGACGGGGACACCATCGTCAACGTGCAGCAGATCGACGACGGCTGGATGTACGGGACGGTGGAGCGCACCGGCGACACGGGGATGCTGCCGGCCAACTACGTGGAGGCCATCTGAACCCGCAGCGCCCCCATCTGTCTTCAGCACATTCCACGGCATCGCATCCGTCCTGGGCGTGACCCGTCCATTCTTCAGTGTCTCTGTTTTTTAAAACCTGCGACAGCTTGTGATTCCTACCCCTCTTCCAGCTTCTTTTGCCAACTGAAGCCTTCTTCTGCCACTTCTGCGGGCTCCCTCCTCTGGCAGGCTTCCCCCTTGATCGACTTCTTGGTTTTCTCTCTGGATGGAACGGGCATGGGCCTCTCTGGGGGAGGCAGGGCTGGAATGGGAGACCTGTTGGCCTGTGGGCCTCACCTGCCCCTCTGTTCTCTCCCCTCACATCCTCCTGCCCAGCTCCTCACATACCCACACATTCCAGGGCTGGGGTGAGCCTGACTGCCAGGACCCCAGGTCAGGGGCTCCCTACATTCCCCAGAGTGGGATCCACTTCTTGGTTCCTGGGATGGCGATGGGGACTCTGCCGCTGTGTAGGGACCAGTGGGATGGGCTCTACCTCTCTTTCTCAAAGAGGGGGCTCTGCCCACCTGGGGTCTCTCTCCCTACCTCCCTCCTCAGGGGCAACAACAGGAGAATGGGGTTCCTGCTGTGGGGCGAATTCATCCCCTCCCCGCGCGTTCCTTCGCACACTGTGATTTTGCCCTCCTGCCCACGCAGACCTGCAGCGGGCAAAGAGCTCCCGAGGAAGCACAGCTTGGGTCAGGTTCTTGCCTTTCTTAATTTTAGGGACAGCTACCGGAAGGAGGGGAACAAGGAGTTCTCTTCCGCAGCCCCTTTCCCCACGCCCACCCCCAGTCTCCAGGGACCCTTGCCTGCCTCCTAGGCTGGAAGCCATGGTCCCGAAGTGTAGGGCAAGGGTGCCTCAGGACCTTTTGGTCTTCAGCCTCCCTCAGCCCCCAGGATCTGGGTTAGGTGGCCGCTCCTCCCTGCTCCTCATGGGAAGATGTCTCAGAGCCTTCCATGACCTCCCCTCCCCAGCCCAATGCCAAGTGGACTTGGAGCTGCACAAAGTCAGCAGGGACCACTAAATCTCCAAGACCTGGTGTGCGGAGGCAGGAGCATGTATGTCTGCAGGTGTCTGACACGCAAGTGTGTGAGTGTGAGTGTGAGAGATGGGGCGGGGGTGTGTCTGTAGGTGTCTCTGGGCCTGTGTGTGGGTGGGGTTATGTGAGGGTATGAAGAGCTGTCTTCCCCTGAGAGTTTCCTCAGAACCCACAGTGAGAGGGGAGGGCTCCTGGGGCAGAGAAGTTCCTTAGGTTTTCTTTGGAATGAAATTCCTCCTTCCCCCCATCTCTGAGTGGAGGAAGCCCACCAATCTGCCCTTTGCAGTGTGCAGGGTGGAAGGTAAGAGGTTGGTGTGGAGTTGGGGCTGCCATAGGGTCTGCAGCCTGCTGGGGCTAAGCGGTGGAGGAAGGCTCTGTCACTCCAGGCATATGTTTCCCCATCTCTGTCTGGGGCTACAGAATAGGGTGGCAGAAGTGTCACCCTGTGGGTGTCTCCCTCGGGGGCTCTTCCCCTAGACCTCCCCCTCACTTACATAAAGCTCCCTTGAAGCAAGAAAGAGGGTCCCAGGGCTGCAAAACTGGAAGCACAGCCTCGGGGATGGGGAGGGAAAGACGGTGCTATATCCAGTTCCTGCTCTCTGCTCATGGGTGGCTGTGACAACCCTGGCCTCACTTGATTCATCTCTGGTTTTCTTGCCACCCTCTGGGAGTCCCCATCCCATTTTCATCCTGAGCCCAACCAGGCCCTGCCATTGGCCTCTTGTCCCTTGGCACACTTGTACCCACAGGTGAGGGGCAGGACCTGAAGGTATTGGCCTGTTCAACAATCAGTCATCATGGGTGTTTTTGTCAACTGCTTGTTAATTGATTTGGGGATGTTTGCCCCGAATGAGAGGTTGAGGAAAAGACTGTGGGTGGGGAGGCCCTGCCTGACCCATCCCTTTTCCTTTCTGGCCCCAGCCTAGGTGGAGGCAAGTGGAATATCTTATATTGGGCGATTTGGGGGCTCGGGGAGGCAGAGAATCTCTTGGGAGTCTTGGGTGGCGCTGGTGCATTCTGTTTCCTCTTGATCTCAAAGCACAATGTGGATTTGGGGACCAAAGGTCAGGGACACATCCCCTTAGAGGACCTGAGTTTGGGAGAGTGGTGAGTGGAAGGGAGGAGCAGCAAGAAGCAGCCTGTTTTCACTCAGCTTAATTCTCCTTCCCAGATAAGGCAAGCCAGTCATGGAATCTTGCTGCAGGCCCTCCCTCTACTCTTCCTGTCCTAAAAATAGGGGCCGTTTTCTTACACACCCCCAGAGAGAGGAGGGACTGTCACACTGGTGCTGAGTGACCGGGGGCTGCTGGGCGTCTGTTCTTTACCAAAACCATCCATCCCTAGAAGAGCACAGAGCCCTGAGGGGCTGGGCTGGGCTGGGCTGAGCCCCTGGTCTTCTCTACAGTTCACAGAGGTCTTTCAGCTCATTTAATCCCAGGAAAGAGGCATCAAAGCTAGAATGTGAATATAACTTTTGTGGACCAATACTAAGAATAACAAGAAGCCCAGTGGTGAGGAAAGTGCGTTCTCCCAGCACTGCCTCCTGTTTTCTCCCTCTCATGTCCCTCCAGGGAAAATGACTTTATTGCTTAATTTCTGCCTTTCCCCCCTCACACATGCACTTTTGGGCCTTTTTTTATAGCTGGAAAAAACAAAATACCACCCTACAAACCTGTATTTAAAAAGAAACAGAAATGACCACGTGAAATTTGCCTCTGTCCAAACATTTCATCCGTGTGTATGTGTATGTGTGTGAGTGTGTGAAGCCGCCAGTTCATCTTTTTATATGGGGTTGTTGTCTCATTTTGGTCTGTTTTGGTCCCCTCCCTCGTGGGCTTGTGCTCGGGATCAAACCTTTCTGGCCTGTTATGATTCTGAACATTTGACTTGAACCACAAGTGAATCTTTCTCCTGGTGACTCAAATAAAAGTATAATTTTTACCTGCGG)$ MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSANTVVEDVKQYFEQFGKVEDAMLMFDKTTNRHRGFGFVTFENEDVVEKVCEIHFHEINNKM|IKYHEEFEKSRMGPSGGEGMEPERRDSQDGSSYRRPLEQQQPHHIPTSAPVYQQPQQQPVAQSYGGYKEPAAPVSIQRSAPGGGGKRYRAVYDYSAADEDEVSFQDGDTIVNVQQIDDGWMYGTVERTGDTGMLPANYVEAI* 09CO014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 13 0 26 35 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) TCACCAGCGTGGACGCCGCCcCGcCCgTCGcGGgGCTCTGTGAGGAAGTGAGAGgCATGTGTCGTCTGCcCCAGCcGCcCCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAG(CATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO014 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 26 27 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTG(GATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO014 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 4 0 153 42 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGAT)AGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAATTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO014 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 10 0 19 192 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2),mismatches(1) CCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGAT(CCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09CO014 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 16 13 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(1),mismappers(1) CTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAA-GAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAG(CTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 09CO014 ENSG00000158987.21 ENSG00000281357.3(1314),ENSG00000286121.1(28763) -/- ./- chr5:131439581 chr5:91613880 CDS/splice-site intergenic deletion 1 4 0 35 8 high out-of-frame . Cyclic_nucleotide-binding_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),RasGEF_N-terminal_motif(100%),RasGEF_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)| . . ENSG00000158987.21 . ENST00000509018.5 . upstream downstream duplicates(1) ^(CCCGCGCAGACTTGTCTCCGGCCAGTCGCGCGTGGGTAGAGGCCTTAGGCGGGCGTTGCGAAGGGTTGTTTGCTAGAGTTCGGACCTTGTTACGGCGCGAAGTTCCCTCCTTGGGGCGGGGGAAAGGTACCGCACCCGCTACCTAGTGTGAATGAACTGTGGCGTGGGCTGCTAAGGGCAGGCTGCGGAGTACCCGGGCCGTGGCCATGAACTCACCCGTGGACCCTGGCGCTAGGCAGGCGTTGAGGAAGAAGCCACCCGAGCGGACTCCCGAG___GACTTAAATACTATTTATTCTTATCTTCATGGAATGGAAATATTATCAAATCTCAGGGAACATCAGCTTAG___ATTAATGTCTGCAAGAGCACGCTATGAGAGATACAGTGGCAATCAGGTTCTCTTTTG___TTCAGAAACGATTGCCAGATGTTGGTATATCCTACTTTCTGGATCTGTGCTTGTGAAAGGCTCCATGGTCTTGCCTCCTTGCAG___TTTTGGTAAGCAGTTTGGAGGAAAAAGAGGATGTGATTGTCTTGTATTAGAGCCTTCAGAAATGATTGTG___GTAGAGAATGCCAAAGATAATGAAGATAGTATTCTACAAAGAGAAATTCCTGCCAGACAATCCCGAAGAAGATTTCGGAAAATTAACTATAAAGGAGAGCGCCAAACCATTACTGATGATGTGGAGGTTAACAGCTATCTTTCT___CTTCCAGCTGATCTTACCAAGATGCATCTCACAGAAAACCCTCATCCACAGGTGACTCATGTGTCTTCTAGTCAGTCTGGTTGTAGCATTGCCAGTGACTCTGGAAGCAGCAGTTTATCTGATATCTATCAG___GCTACGGAGAGTGAGGTAGGAGATGTAGATTTGACACGTCTTCCAGAAGGACCTGTTGATTCTGAGGATGACGAAGAGGAAGATGAAGAGATTGATCGAACAGATCCATTGCAGGGGCGAGATCTTGTTCGAGAATGTCTTGAAAAAGAACCTGCAGACAAAACTGATGATGACATTG___AACAATTGCTGGAGTTTATGCACCAGCTCCCTGCATTTGCAAACATGACCATGTCTGTAAGGAGAGAACTCTGCTCAGTGATGATTTTTGAAGTGGTAGAGCAGGCTGGAGCTATTATTCTTGAAGATGGGCAAGAG___CTTGACTCATGGTATGTTATTTTAAACGGCACTGTGGAAATCAGTCATCCAGATGGAAAAGTTGAAAATTTGTTTATGGGAAATAGTTTTGGAATTACTCCCACTCTGGATAAGCAGTACATGCATGGAATTGTCAGGACTAAAGTAGATGATTGTCAG___TTTGTCTGCATAGCCCAGCAAGATTATTGGAGAATTTTAAACCATGTGGAAAAAAATACCCATAAAGTTGAGGAAGAGGGAGAAATTGTTATGGTACATGAGCATCGGGAACTAGACCGGAGTGGAACCAGGAAAGGACACATTGTGATCAAG___GCAACACCTGAGCGTCTCATAATGCATTTAATAGAAGAACATTCCATCGTGGATCCAACTTATATAGAAGATTTTCTATTAACTTACAGGACATTTCTTGAAAGTCCTTTGGATGTTGGGATCAAACTATTGGAATGGTTTAAGATCGACAGCTTAAGAGATAAG___GTGACACGGATTGTATTATTATGGGTAAATAATCATTTTAATGATTTTGAAGGTGACCCTGCTATGACTCGATTTCTAGAGGAATTTGAAAAAAATCTGGAAGATACA___AAGATGAATGGTCATCTCCGGTTATTGAATATTGCCTGTGCTGCAAAGGCTAAGTGGAGACAGGTTGTGCTGCAAAAGGCTTCCCGCGAGTCCCCTCTACAATTCAGCCTTAATGGAGGGAGTGAGAAGGGATTTGGTATTTTTGTTGAAGGAGTAGAACCTGGTAGCAAAGCTGCTGATTCAGGACTGAAACGTGGTGATCAG___ATTATGGAAGTAAATGGACAAAACTTTGAGAATATTACATTTATGAAAGCCGTTGAAATTTTGAGGAATAATACTCATCTTGCACTTACTGTGAAGACCAACATTTTTG___TGTTCAAAGAGTTACTTTTTAGGACTGAACAAGAGAAATCTGGTGTTCCTCATATTCCCAAAATTGCTGAAAAAAAAAGTAATCGCCATTCTATCCAGCATGTGCCAGGAGATATTGAACAGACATCACAGGAGAAAGGAAGTAAGAAAGTTAAAGCAAATACTGTTTCAGGTGGAAGAAACAAAATCAGGAAGATTTTGGATAAAACACGATTTAGTATCTTGCCTCCAAAGCTATTTAG___TGATGGAGGCCTAAGCCAATCACAAGATGACAGCATTGTGGGAACAAGGCACTGTAGGCATAGTCTGGCTATAATGCCCATCCCTGGAACACTCTCATCCAGCAGCCCTGATCTCCTGCAGCCTACCACCAGTATGTTGGATTTTTCCAATCCTTCAG___ATATCCCTGATCAAGTTATAAGAGTTTTCAAAGTGGATCAGCAAAGTTGCTACATTATCATCAGTAAAGACACCACAGCTAAAGAAGTAGTTTTTCATGCTGTTCATGAATTTGGTTTGACCGGTGCATCCGACACATATTCTCTCTGTGAAGTTTCTGTTACTCCTGAGGGTGTCATAAAACAGAGAAGACTTCCAGATCAGTTCTCCAAATTAGCTGATAGAATTCAACTCAATGGAAG___GTATTACTTAAAAAATAACATGGAAACAGAAACCTTATGTTCAGATGAAGATGCTCAAGAACTAGTTAAGGAAAGCCAGCTATCCATGCTGCAGCTCAGTACCATTGAGGTGGCCACCCAGCTGTCAATGAGGGACTTTGATTTGTTTCGTAATATTGAACCGACTGAGTACATCGATGACCTTTTTAAGTTAAATTCCAAAACAGGAAATACTCATTTGAAGAGGTTTGAGGACATTGTAAACCAAGAGACATTCTGGGTTGCCTCAGAAATTTTAACTGAAGCAAATCAGCTCAAACGAATGAAGATTATTAAGCATTTTATTAAAATTGCACTTCATTGTCGAGAATGTAAGAACTTCAATTCCATGTTTGCAATAATAAG___TGGCTTGAACCTGGCATCTGTAGCAAGACTCAGAGGAACTTGGGAAAAGTTACCAAGCAAATACGAGAAACATCTTCAAGATCTACAAGACATTTTTGATCCATCTAGAAACATGGCAAAGTATAGAAATATTCTTAGTAGTCAAAGTATGCAGCCTCCAATTATTCCACTCTTCCCTGTTGTCAAGAAAGATATGACATTTCTACATGAAG___GAAATGACTCCAAAGTAGATGGTTTAGTAAACTTTGAGAAGTTAAGAATGATTTCCAAGGAAATCCGCCAAGTTGTTCGAATGACTTCTGCTAACATGGACCCAGCTATGATGTTTCGACAGAG___GTCACTGAGTCAAGGAAGCACAAATTCAAACATGCTGGATGTTCAGGGAGGTGCTCACAAAAAAAGGGCACGCCGCAGCTCTCTGCTTAATGCCAAGAAGCTATATGAGGATGCCCAAATGGCAAGGAAGGTGAAGCAGTATCTTTCCAGTCTCGATGTAGAGACAGATGAGGAGAAGTTCCAGATGATGTCATTACAGTGGGAGCCTGCATATGGTACCT___TGACCAAGAATTTAAGTGAGAAAAGATCAGCCAAATCATCTGAAATGTCTCCAGTGCCTATGAGGTCAGCTGGCCAAACAACTAAAGCCCACTTGCATCAACCCCACAGAGTAAGCCAGGTGCTTCAGGTGCC)AGCTGTTAATTTGCACCCCATCAGGAAGAAGGGACAAACAAAAGACCCTGCACTGA___ATACAAGTTTACCTCAGAAAGTTTTAGGAACAACTGAAGAAATAAGTGGTAAGAAGCATACAGAAGACACTATTTCTGTGGCGTCATCTTTACATTCTAGTCCTCCTGCATCTCCTCAAGGCTCCCCTCACAAAG|ATGGAAAGTGTTCCTTGTGCCAGTTGCCACTTGCAAAAAAGAAAAAGGATTCTTAGATCAAAAGCTATTGATCACAATTCCAAAGTCAATGTCACATTTCTCATCCCCTGCACCAAAGAACACTGGCTAATTTGCAAGCAAGTAAACCGGACTCCAAGGCCAAGCTATTA MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEVVEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKATPERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRESPLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRNNTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKGSKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMPIPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHAVHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNMETETLCSDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHLKRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLASVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDMTFLHEGNDSKVDGLVNFEKLRMISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLDVQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGTLTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKDPALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHK|dgkcslcqlplakkkkds* 09CO014 ENSG00000273217.1 ENSG00000281357.3(1314),ENSG00000286121.1(28763) -/- ./- chr5:131439581 chr5:91613880 CDS/splice-site intergenic deletion 1 4 0 35 8 high out-of-frame . . . . ENSG00000273217.1 . ENST00000514667.1 . upstream downstream duplicates(1) ^(GCTGTAGGAGCAGGGGCCTAGCAAGCGCCCAGCGGAGCGACCCCTGCCTGGCCGTGGCTAGCATGGCCCCTACGCTGTTCCAGAAGCTCTTCAGCAAGAGGACCGGGCTGGGCGCGCCCGGCCGCGACGCCCGGGACCCAGATTGCGGGTTCAG___TTGGCCTTTACCAGAGTTTGATCCAAGCCAGATTCGACTGATTGTATATCAAGACTGTGAAAGACGAGGGAGAAATGTTTTGTTTGACTCCAGTGTTAAGAGAAGAAATGAGGACATATCAGTATCG___GACTTAAATACTATTTATTCTTATCTTCATGGAATGGAAATATTATCAAATCTCAGGGAACATCAGCTTAG___ATTAATGTCTGCAAGAGCACGCTATGAGAGATACAGTGGCAATCAGGTTCTCTTTTG___TTCAGAAACGATTGCCAGATGTTGGTATATCCTACTTTCTGGATCTGTGCTTGTGAAAGGCTCCATGGTCTTGCCTCCTTGCAG___TTTTGGTAAGCAGTTTGGAGGAAAAAGAGGATGTGATTGTCTTGTATTAGAGCCTTCAGAAATGATTGTG___GTAGAGAATGCCAAAGATAATGAAGATAGTATTCTACAAAGAGAAATTCCTGCCAGACAATCCCGAAGAAGATTTCGGAAAATTAACTATAAAGGAGAGCGCCAAACCATTACTGATGATGTGGAGGTTAACAGCTATCTTTCT___CTTCCAGCTGATCTTACCAAGATGCATCTCACAGAAAACCCTCATCCACAGGTGACTCATGTGTCTTCTAGTCAGTCTGGTTGTAGCATTGCCAGTGACTCTGGAAGCAGCAGTTTATCTGATATCTATCAG___GCTACGGAGAGTGAGGTAGGAGATGTAGATTTGACACGTCTTCCAGAAGGACCTGTTGATTCTGAGGATGACGAAGAGGAAGATGAAGAGATTGATCGAACAGATCCATTGCAGGGGCGAGATCTTGTTCGAGAATGTCTTGAAAAAGAACCTGCAGACAAAACTGATGATGACATTG___AACAATTGCTGGAGTTTATGCACCAGCTCCCTGCATTTGCAAACATGACCATGTCTGTAAGGAGAGAACTCTGCTCAGTGATGATTTTTGAAGTGGTAGAGCAGGCTGGAGCTATTATTCTTGAAGATGGGCAAGAG___CTTGACTCATGGTATGTTATTTTAAACGGCACTGTGGAAATCAGTCATCCAGATGGAAAAGTTGAAAATTTGTTTATGGGAAATAGTTTTGGAATTACTCCCACTCTGGATAAGCAGTACATGCATGGAATTGTCAGGACTAAAGTAGATGATTGTCAG___TTTGTCTGCATAGCCCAGCAAGATTATTGGAGAATTTTAAACCATGTGGAAAAAAATACCCATAAAGTTGAGGAAGAGGGAGAAATTGTTATGGTACATGAGCATCGGGAACTAGACCGGAGTGGAACCAGGAAAGGACACATTGTGATCAAG___GCAACACCTGAGCGTCTCATAATGCATTTAATAGAAGAACATTCCATCGTGGATCCAACTTATATAGAAGATTTTCTATTAACTTACAGGACATTTCTTGAAAGTCCTTTGGATGTTGGGATCAAACTATTGGAATGGTTTAAGATCGACAGCTTAAGAGATAAG___GTGACACGGATTGTATTATTATGGGTAAATAATCATTTTAATGATTTTGAAGGTGACCCTGCTATGACTCGATTTCTAGAGGAATTTGAAAAAAATCTGGAAGATACA___AAGATGAATGGTCATCTCCGGTTATTGAATATTGCCTGTGCTGCAAAGGCTAAGTGGAGACAGGTTGTGCTGCAAAAGGCTTCCCGCGAGTCCCCTCTACAATTCAGCCTTAATGGAGGGAGTGAGAAGGGATTTGGTATTTTTGTTGAAGGAGTAGAACCTGGTAGCAAAGCTGCTGATTCAGGACTGAAACGTGGTGATCAG___ATTATGGAAGTAAATGGACAAAACTTTGAGAATATTACATTTATGAAAGCCGTTGAAATTTTGAGGAATAATACTCATCTTGCACTTACTGTGAAGACCAACATTTTTG___TGTTCAAAGAGTTACTTTTTAGGACTGAACAAGAGAAATCTGGTGTTCCTCATATTCCCAAAATTGCTGAAAAAAAAAGTAATCGCCATTCTATCCAGCATGTGCCAGGAGATATTGAACAGACATCACAGGAGAAAGGAAGTAAGAAAGTTAAAGCAAATACTGTTTCAGGTGGAAGAAACAAAATCAGGAAGATTTTGGATAAAACACGATTTAGTATCTTGCCTCCAAAGCTATTTAG___TGATGGAGGCCTAAGCCAATCACAAGATGACAGCATTGTGGGAACAAGGCACTGTAGGCATAGTCTGGCTATAATGCCCATCCCTGGAACACTCTCATCCAGCAGCCCTGATCTCCTGCAGCCTACCACCAGTATGTTGGATTTTTCCAATCCTTCAG___ATATCCCTGATCAAGTTATAAGAGTTTTCAAAGTGGATCAGCAAAGTTGCTACATTATCATCAGTAAAGACACCACAGCTAAAGAAGTAGTTTTTCATGCTGTTCATGAATTTGGTTTGACCGGTGCATCCGACACATATTCTCTCTGTGAAGTTTCTGTTACTCCTGAGGGTGTCATAAAACAGAGAAGACTTCCAGATCAGTTCTCCAAATTAGCTGATAGAATTCAACTCAATGGAAG___GTATTACTTAAAAAATAACATGGAAACAGAAACCTTATGTTCAGATGAAGATGCTCAAGAACTAGTTAAGGAAAGCCAGCTATCCATGCTGCAGCTCAGTACCATTGAGGTGGCCACCCAGCTGTCAATGAGGGACTTTGATTTGTTTCGTAATATTGAACCGACTGAGTACATCGATGACCTTTTTAAGTTAAATTCCAAAACAGGAAATACTCATTTGAAGAGGTTTGAGGACATTGTAAACCAAGAGACATTCTGGGTTGCCTCAGAAATTTTAACTGAAGCAAATCAGCTCAAACGAATGAAGATTATTAAGCATTTTATTAAAATTGCACTTCATTGTCGAGAATGTAAGAACTTCAATTCCATGTTTGCAATAATAAG___TGGCTTGAACCTGGCATCTGTAGCAAGACTCAGAGGAACTTGGGAAAAGTTACCAAGCAAATACGAGAAACATCTTCAAGATCTACAAGACATTTTTGATCCATCTAGAAACATGGCAAAGTATAGAAATATTCTTAGTAGTCAAAGTATGCAGCCTCCAATTATTCCACTCTTCCCTGTTGTCAAGAAAGATATGACATTTCTACATGAAG___GAAATGACTCCAAAGTAGATGGTTTAGTAAACTTTGAGAAGTTAAGAATGATTTCCAAGGAAATCCGCCAAGTTGTTCGAATGACTTCTGCTAACATGGACCCAGCTATGATGTTTCGACAGAG___GTCACTGAGTCAAGGAAGCACAAATTCAAACATGCTGGATGTTCAGGGAGGTGCTCACAAAAAAAGGGCACGCCGCAGCTCTCTGCTTAATGCCAAGAAGCTATATGAGGATGCCCAAATGGCAAGGAAGGTGAAGCAGTATCTTTCCAGTCTCGATGTAGAGACAGATGAGGAGAAGTTCCAGATGATGTCATTACAGTGGGAGCCTGCATATGGTACCT___TGACCAAGAATTTAAGTGAGAAAAGATCAGCCAAATCATCTGAAATGTCTCCAGTGCCTATGAGGTCAGCTGGCCAAACAACTAAAGCCCACTTGCATCAACCCCACAGAGTAAGCCAGGTGCTTCAGGTGCC)AGCTGTTAATTTGCACCCCATCAGGAAGAAGGGACAAACAAAAGACCCTGCACTGA___ATACAAGTTTACCTCAGAAAGTTTTAGGAACAACTGAAGAAATAAGTGGTAAGAAGCATACAGAAGACACTATTTCTGTGGCGTCATCTTTACATTCTAGTCCTCCTGCATCTCCTCAAGGCTCCCCTCACAAAG|ATGGAAAGTGTTCCTTGTGCCAGTTGCCACTTGCAAAAAAGAAAAAGGATTCTTAGATCAAAAGCTATTGATCACAATTCCAAAGTCAATGTCACATTTCTCATCCCCTGCACCAAAGAACACTGGCTAATTTGCAAGCAAGTAAACCGGACTCCAAGGCCAAGCTATTA MAPTLFQKLFSKRTGLGAPGRDARDPDCGFSWPLPEFDPSQIRLIVYQDCERRGRNVLFDSSVKRRNEDISVSDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEVVEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKATPERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRESPLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRNNTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKGSKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMPIPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHAVHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNMETETLCSDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHLKRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLASVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDMTFLHEGNDSKVDGLVNFEKLRMISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLDVQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGTLTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKDPALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHK|dgkcslcqlplakkkkds* 09CO014 ENSG00000158987.21 ENSG00000286121.1 -/- +/- chr5:131439581 chr5:91642714 CDS/splice-site exon deletion/5'-5' 2 1 0 35 2 high out-of-frame . Cyclic_nucleotide-binding_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),RasGEF_N-terminal_motif(100%),RasGEF_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)| . . ENSG00000158987.21 ENSG00000286121.1 ENST00000509018.5 . upstream downstream . ^(CCCGCGCAGACTTGTCTCCGGCCAGTCGCGCGTGGGTAGAGGCCTTAGGCGGGCGTTGCGAAGGGTTGTTTGCTAGAGTTCGGACCTTGTTACGGCGCGAAGTTCCCTCCTTGGGGCGGGGGAAAGGTACCGCACCCGCTACCTAGTGTGAATGAACTGTGGCGTGGGCTGCTAAGGGCAGGCTGCGGAGTACCCGGGCCGTGGCCATGAACTCACCCGTGGACCCTGGCGCTAGGCAGGCGTTGAGGAAGAAGCCACCCGAGCGGACTCCCGAG___GACTTAAATACTATTTATTCTTATCTTCATGGAATGGAAATATTATCAAATCTCAGGGAACATCAGCTTAG___ATTAATGTCTGCAAGAGCACGCTATGAGAGATACAGTGGCAATCAGGTTCTCTTTTG___TTCAGAAACGATTGCCAGATGTTGGTATATCCTACTTTCTGGATCTGTGCTTGTGAAAGGCTCCATGGTCTTGCCTCCTTGCAG___TTTTGGTAAGCAGTTTGGAGGAAAAAGAGGATGTGATTGTCTTGTATTAGAGCCTTCAGAAATGATTGTG___GTAGAGAATGCCAAAGATAATGAAGATAGTATTCTACAAAGAGAAATTCCTGCCAGACAATCCCGAAGAAGATTTCGGAAAATTAACTATAAAGGAGAGCGCCAAACCATTACTGATGATGTGGAGGTTAACAGCTATCTTTCT___CTTCCAGCTGATCTTACCAAGATGCATCTCACAGAAAACCCTCATCCACAGGTGACTCATGTGTCTTCTAGTCAGTCTGGTTGTAGCATTGCCAGTGACTCTGGAAGCAGCAGTTTATCTGATATCTATCAG___GCTACGGAGAGTGAGGTAGGAGATGTAGATTTGACACGTCTTCCAGAAGGACCTGTTGATTCTGAGGATGACGAAGAGGAAGATGAAGAGATTGATCGAACAGATCCATTGCAGGGGCGAGATCTTGTTCGAGAATGTCTTGAAAAAGAACCTGCAGACAAAACTGATGATGACATTG___AACAATTGCTGGAGTTTATGCACCAGCTCCCTGCATTTGCAAACATGACCATGTCTGTAAGGAGAGAACTCTGCTCAGTGATGATTTTTGAAGTGGTAGAGCAGGCTGGAGCTATTATTCTTGAAGATGGGCAAGAG___CTTGACTCATGGTATGTTATTTTAAACGGCACTGTGGAAATCAGTCATCCAGATGGAAAAGTTGAAAATTTGTTTATGGGAAATAGTTTTGGAATTACTCCCACTCTGGATAAGCAGTACATGCATGGAATTGTCAGGACTAAAGTAGATGATTGTCAG___TTTGTCTGCATAGCCCAGCAAGATTATTGGAGAATTTTAAACCATGTGGAAAAAAATACCCATAAAGTTGAGGAAGAGGGAGAAATTGTTATGGTACATGAGCATCGGGAACTAGACCGGAGTGGAACCAGGAAAGGACACATTGTGATCAAG___GCAACACCTGAGCGTCTCATAATGCATTTAATAGAAGAACATTCCATCGTGGATCCAACTTATATAGAAGATTTTCTATTAACTTACAGGACATTTCTTGAAAGTCCTTTGGATGTTGGGATCAAACTATTGGAATGGTTTAAGATCGACAGCTTAAGAGATAAG___GTGACACGGATTGTATTATTATGGGTAAATAATCATTTTAATGATTTTGAAGGTGACCCTGCTATGACTCGATTTCTAGAGGAATTTGAAAAAAATCTGGAAGATACA___AAGATGAATGGTCATCTCCGGTTATTGAATATTGCCTGTGCTGCAAAGGCTAAGTGGAGACAGGTTGTGCTGCAAAAGGCTTCCCGCGAGTCCCCTCTACAATTCAGCCTTAATGGAGGGAGTGAGAAGGGATTTGGTATTTTTGTTGAAGGAGTAGAACCTGGTAGCAAAGCTGCTGATTCAGGACTGAAACGTGGTGATCAG___ATTATGGAAGTAAATGGACAAAACTTTGAGAATATTACATTTATGAAAGCCGTTGAAATTTTGAGGAATAATACTCATCTTGCACTTACTGTGAAGACCAACATTTTTG___TGTTCAAAGAGTTACTTTTTAGGACTGAACAAGAGAAATCTGGTGTTCCTCATATTCCCAAAATTGCTGAAAAAAAAAGTAATCGCCATTCTATCCAGCATGTGCCAGGAGATATTGAACAGACATCACAGGAGAAAGGAAGTAAGAAAGTTAAAGCAAATACTGTTTCAGGTGGAAGAAACAAAATCAGGAAGATTTTGGATAAAACACGATTTAGTATCTTGCCTCCAAAGCTATTTAG___TGATGGAGGCCTAAGCCAATCACAAGATGACAGCATTGTGGGAACAAGGCACTGTAGGCATAGTCTGGCTATAATGCCCATCCCTGGAACACTCTCATCCAGCAGCCCTGATCTCCTGCAGCCTACCACCAGTATGTTGGATTTTTCCAATCCTTCAG___ATATCCCTGATCAAGTTATAAGAGTTTTCAAAGTGGATCAGCAAAGTTGCTACATTATCATCAGTAAAGACACCACAGCTAAAGAAGTAGTTTTTCATGCTGTTCATGAATTTGGTTTGACCGGTGCATCCGACACATATTCTCTCTGTGAAGTTTCTGTTACTCCTGAGGGTGTCATAAAACAGAGAAGACTTCCAGATCAGTTCTCCAAATTAGCTGATAGAATTCAACTCAATGGAAG___GTATTACTTAAAAAATAACATGGAAACAGAAACCTTATGTTCAGATGAAGATGCTCAAGAACTAGTTAAGGAAAGCCAGCTATCCATGCTGCAGCTCAGTACCATTGAGGTGGCCACCCAGCTGTCAATGAGGGACTTTGATTTGTTTCGTAATATTGAACCGACTGAGTACATCGATGACCTTTTTAAGTTAAATTCCAAAACAGGAAATACTCATTTGAAGAGGTTTGAGGACATTGTAAACCAAGAGACATTCTGGGTTGCCTCAGAAATTTTAACTGAAGCAAATCAGCTCAAACGAATGAAGATTATTAAGCATTTTATTAAAATTGCACTTCATTGTCGAGAATGTAAGAACTTCAATTCCATGTTTGCAATAATAAG___TGGCTTGAACCTGGCATCTGTAGCAAGACTCAGAGGAACTTGGGAAAAGTTACCAAGCAAATACGAGAAACATCTTCAAGATCTACAAGACATTTTTGATCCATCTAGAAACATGGCAAAGTATAGAAATATTCTTAGTAGTCAAAGTATGCAGCCTCCAATTATTCCACTCTTCCCTGTTGTCAAGAAAGATATGACATTTCTACATGAAG___GAAATGACTCCAAAGTAGATGGTTTAGTAAACTTTGAGAAGTTAAGAATGATTTCCAAGGAAATCCGCCAAGTTGTTCGAATGACTTCTGCTAACATGGACCCAGCTATGATGTTTCGACAGAG___GTCACTGAGTCAAGGAAGCACAAATTCAAACATGCTGGATGTTCAGGGAGGTGCTCACAAAAAAAGGGCACGCCGCAGCTCTCTGCTTAATGCCAAGAAGCTATATGAGGATGCCCAAATGGCAAGGAAGGTGAAGCAGTATCTTTCCAGTCTCGATGTAGAGACAGATGAGGAGAAGTTCCAGATGATGTCATTACAGTGGGAGCCTGCATATGGTACCT___TGACCAAGAATTTAAGTGAGAAAAGATCAGCCAAATCATCTGAAATGTCTCCAGTGCCTATGAGGTCAGCTGGCCAAACAACTAAAGCCCACTTGCATCAACCCCACAGAGTAAGCCAGGTGCTTCAGGTGCCAGCTGTTAATTTGCACCCCATCAGGAAGAAG)GGACAAACAAAAGACCCTGCACTGA___ATACAAGTTTACCTCAGAAAGTTTTAGGAACAACTGAAGAAATAAGTGGTAAGAAGCATACAGAAGACACTATTTCTGTGGCGTCATCTTTACATTCTAGTCCTCCTGCATCTCCTCAAGGCTCCCCTCACAAAG|GTACTTGCATGCCTGCCTTCTAAACCTAGAACGAGGACAGTAATTCCATCCTTGTTGCATCTCTGAAATTCTTCAATTACTCAATTTGTGGAATTAGAATACCGCATTGTCCGGCCACATTTGTTCTAAGCAGATGATCTGGACATAGAGAGATGTCAGCCAATGAGCAGAATAACCACTGTATTTGCAGCTTATCTTTTAATGGAGATCTGGAG MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEVVEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKATPERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRESPLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRNNTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKGSKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMPIPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHAVHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNMETETLCSDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHLKRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLASVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDMTFLHEGNDSKVDGLVNFEKLRMISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLDVQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGTLTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKDPALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHK|gtcmpaf* 09CO014 ENSG00000273217.1 ENSG00000286121.1 -/- +/- chr5:131439581 chr5:91642714 CDS/splice-site exon deletion/5'-5' 2 1 0 35 2 high out-of-frame . . . . ENSG00000273217.1 ENSG00000286121.1 ENST00000514667.1 . upstream downstream . ^(GCTGTAGGAGCAGGGGCCTAGCAAGCGCCCAGCGGAGCGACCCCTGCCTGGCCGTGGCTAGCATGGCCCCTACGCTGTTCCAGAAGCTCTTCAGCAAGAGGACCGGGCTGGGCGCGCCCGGCCGCGACGCCCGGGACCCAGATTGCGGGTTCAG___TTGGCCTTTACCAGAGTTTGATCCAAGCCAGATTCGACTGATTGTATATCAAGACTGTGAAAGACGAGGGAGAAATGTTTTGTTTGACTCCAGTGTTAAGAGAAGAAATGAGGACATATCAGTATCG___GACTTAAATACTATTTATTCTTATCTTCATGGAATGGAAATATTATCAAATCTCAGGGAACATCAGCTTAG___ATTAATGTCTGCAAGAGCACGCTATGAGAGATACAGTGGCAATCAGGTTCTCTTTTG___TTCAGAAACGATTGCCAGATGTTGGTATATCCTACTTTCTGGATCTGTGCTTGTGAAAGGCTCCATGGTCTTGCCTCCTTGCAG___TTTTGGTAAGCAGTTTGGAGGAAAAAGAGGATGTGATTGTCTTGTATTAGAGCCTTCAGAAATGATTGTG___GTAGAGAATGCCAAAGATAATGAAGATAGTATTCTACAAAGAGAAATTCCTGCCAGACAATCCCGAAGAAGATTTCGGAAAATTAACTATAAAGGAGAGCGCCAAACCATTACTGATGATGTGGAGGTTAACAGCTATCTTTCT___CTTCCAGCTGATCTTACCAAGATGCATCTCACAGAAAACCCTCATCCACAGGTGACTCATGTGTCTTCTAGTCAGTCTGGTTGTAGCATTGCCAGTGACTCTGGAAGCAGCAGTTTATCTGATATCTATCAG___GCTACGGAGAGTGAGGTAGGAGATGTAGATTTGACACGTCTTCCAGAAGGACCTGTTGATTCTGAGGATGACGAAGAGGAAGATGAAGAGATTGATCGAACAGATCCATTGCAGGGGCGAGATCTTGTTCGAGAATGTCTTGAAAAAGAACCTGCAGACAAAACTGATGATGACATTG___AACAATTGCTGGAGTTTATGCACCAGCTCCCTGCATTTGCAAACATGACCATGTCTGTAAGGAGAGAACTCTGCTCAGTGATGATTTTTGAAGTGGTAGAGCAGGCTGGAGCTATTATTCTTGAAGATGGGCAAGAG___CTTGACTCATGGTATGTTATTTTAAACGGCACTGTGGAAATCAGTCATCCAGATGGAAAAGTTGAAAATTTGTTTATGGGAAATAGTTTTGGAATTACTCCCACTCTGGATAAGCAGTACATGCATGGAATTGTCAGGACTAAAGTAGATGATTGTCAG___TTTGTCTGCATAGCCCAGCAAGATTATTGGAGAATTTTAAACCATGTGGAAAAAAATACCCATAAAGTTGAGGAAGAGGGAGAAATTGTTATGGTACATGAGCATCGGGAACTAGACCGGAGTGGAACCAGGAAAGGACACATTGTGATCAAG___GCAACACCTGAGCGTCTCATAATGCATTTAATAGAAGAACATTCCATCGTGGATCCAACTTATATAGAAGATTTTCTATTAACTTACAGGACATTTCTTGAAAGTCCTTTGGATGTTGGGATCAAACTATTGGAATGGTTTAAGATCGACAGCTTAAGAGATAAG___GTGACACGGATTGTATTATTATGGGTAAATAATCATTTTAATGATTTTGAAGGTGACCCTGCTATGACTCGATTTCTAGAGGAATTTGAAAAAAATCTGGAAGATACA___AAGATGAATGGTCATCTCCGGTTATTGAATATTGCCTGTGCTGCAAAGGCTAAGTGGAGACAGGTTGTGCTGCAAAAGGCTTCCCGCGAGTCCCCTCTACAATTCAGCCTTAATGGAGGGAGTGAGAAGGGATTTGGTATTTTTGTTGAAGGAGTAGAACCTGGTAGCAAAGCTGCTGATTCAGGACTGAAACGTGGTGATCAG___ATTATGGAAGTAAATGGACAAAACTTTGAGAATATTACATTTATGAAAGCCGTTGAAATTTTGAGGAATAATACTCATCTTGCACTTACTGTGAAGACCAACATTTTTG___TGTTCAAAGAGTTACTTTTTAGGACTGAACAAGAGAAATCTGGTGTTCCTCATATTCCCAAAATTGCTGAAAAAAAAAGTAATCGCCATTCTATCCAGCATGTGCCAGGAGATATTGAACAGACATCACAGGAGAAAGGAAGTAAGAAAGTTAAAGCAAATACTGTTTCAGGTGGAAGAAACAAAATCAGGAAGATTTTGGATAAAACACGATTTAGTATCTTGCCTCCAAAGCTATTTAG___TGATGGAGGCCTAAGCCAATCACAAGATGACAGCATTGTGGGAACAAGGCACTGTAGGCATAGTCTGGCTATAATGCCCATCCCTGGAACACTCTCATCCAGCAGCCCTGATCTCCTGCAGCCTACCACCAGTATGTTGGATTTTTCCAATCCTTCAG___ATATCCCTGATCAAGTTATAAGAGTTTTCAAAGTGGATCAGCAAAGTTGCTACATTATCATCAGTAAAGACACCACAGCTAAAGAAGTAGTTTTTCATGCTGTTCATGAATTTGGTTTGACCGGTGCATCCGACACATATTCTCTCTGTGAAGTTTCTGTTACTCCTGAGGGTGTCATAAAACAGAGAAGACTTCCAGATCAGTTCTCCAAATTAGCTGATAGAATTCAACTCAATGGAAG___GTATTACTTAAAAAATAACATGGAAACAGAAACCTTATGTTCAGATGAAGATGCTCAAGAACTAGTTAAGGAAAGCCAGCTATCCATGCTGCAGCTCAGTACCATTGAGGTGGCCACCCAGCTGTCAATGAGGGACTTTGATTTGTTTCGTAATATTGAACCGACTGAGTACATCGATGACCTTTTTAAGTTAAATTCCAAAACAGGAAATACTCATTTGAAGAGGTTTGAGGACATTGTAAACCAAGAGACATTCTGGGTTGCCTCAGAAATTTTAACTGAAGCAAATCAGCTCAAACGAATGAAGATTATTAAGCATTTTATTAAAATTGCACTTCATTGTCGAGAATGTAAGAACTTCAATTCCATGTTTGCAATAATAAG___TGGCTTGAACCTGGCATCTGTAGCAAGACTCAGAGGAACTTGGGAAAAGTTACCAAGCAAATACGAGAAACATCTTCAAGATCTACAAGACATTTTTGATCCATCTAGAAACATGGCAAAGTATAGAAATATTCTTAGTAGTCAAAGTATGCAGCCTCCAATTATTCCACTCTTCCCTGTTGTCAAGAAAGATATGACATTTCTACATGAAG___GAAATGACTCCAAAGTAGATGGTTTAGTAAACTTTGAGAAGTTAAGAATGATTTCCAAGGAAATCCGCCAAGTTGTTCGAATGACTTCTGCTAACATGGACCCAGCTATGATGTTTCGACAGAG___GTCACTGAGTCAAGGAAGCACAAATTCAAACATGCTGGATGTTCAGGGAGGTGCTCACAAAAAAAGGGCACGCCGCAGCTCTCTGCTTAATGCCAAGAAGCTATATGAGGATGCCCAAATGGCAAGGAAGGTGAAGCAGTATCTTTCCAGTCTCGATGTAGAGACAGATGAGGAGAAGTTCCAGATGATGTCATTACAGTGGGAGCCTGCATATGGTACCT___TGACCAAGAATTTAAGTGAGAAAAGATCAGCCAAATCATCTGAAATGTCTCCAGTGCCTATGAGGTCAGCTGGCCAAACAACTAAAGCCCACTTGCATCAACCCCACAGAGTAAGCCAGGTGCTTCAGGTGCCAGCTGTTAATTTGCACCCCATCAGGAAGAAG)GGACAAACAAAAGACCCTGCACTGA___ATACAAGTTTACCTCAGAAAGTTTTAGGAACAACTGAAGAAATAAGTGGTAAGAAGCATACAGAAGACACTATTTCTGTGGCGTCATCTTTACATTCTAGTCCTCCTGCATCTCCTCAAGGCTCCCCTCACAAAG|GTACTTGCATGCCTGCCTTCTAAACCTAGAACGAGGACAGTAATTCCATCCTTGTTGCATCTCTGAAATTCTTCAATTACTCAATTTGTGGAATTAGAATACCGCATTGTCCGGCCACATTTGTTCTAAGCAGATGATCTGGACATAGAGAGATGTCAGCCAATGAGCAGAATAACCACTGTATTTGCAGCTTATCTTTTAATGGAGATCTGGAG MAPTLFQKLFSKRTGLGAPGRDARDPDCGFSWPLPEFDPSQIRLIVYQDCERRGRNVLFDSSVKRRNEDISVSDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEVVEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKATPERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRESPLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRNNTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKGSKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMPIPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHAVHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNMETETLCSDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHLKRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLASVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDMTFLHEGNDSKVDGLVNFEKLRMISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLDVQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGTLTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKDPALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHK|gtcmpaf* 09CO014 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 7 6 0 186 36 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream mismappers(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAA)ACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTtCA . 09CO014 ENSG00000144560.15 ENSG00000170293.9 -/- +/+ chr3:11601833 chr3:32357373 CDS/splice-site CDS/splice-site inversion 0 4 0 70 45 medium out-of-frame . Transcription_cofactor_vestigial-like_protein_4(100%)|Membrane-associating_domain(100%) . . ENSG00000144560.15 ENSG00000170293.9 ENST00000273038.7 ENST00000307526.4 upstream upstream . ^(ACATTTCAGAGCAGTCCGGGTTGTGGACGCCAGGAGTTTGCCAAACACAGCAAACACTGGTGTGTGAGCGGCTGAAGGGGACTCTTTCCACTCCGATCTCCCTCCCTCCCAGCCTGTTTTGATTTACTAGGACTTCCTCCTCCGGGCGAGGCGGGGGAAGGACGCCGCCGAGCGCCTGGAGTTGTGCGCGTGTGCGTGTGCGCGTGTGCGAGTGTGAAGTGCAGCGCTGGAGTGCAACATGCTGTAATGGGAGGAAACCCAGCGGCGTCGGAGCGCCCGGGACCGCCGCGGCCGTTCTGAGCGCAGTGGCGCCGAGCAGCCCCTCCCGCAGCCGGTGTGACCTGTCCCTTCAG___GCTCCAACCAGGAATGGAGACGCCATTGGATGTTTTGTCCAGGGCAGCATCTCTGGTGCATGCTGATGACGAAAAAC___GCGAAGCTGCTCTCAGGGGAGAACCCAGAATACAGACCCTGCCGGTGGCCTCTGCCCTCAGCAGTCACCGCACCGGCCCTCCCCCAATCAGCCCCAGCAAGAGGAAGTTCAGCATGGAGCCAGGTGA)CGAGGACCTAGACTGTGACAACGACCACGTCTCCAAAATGAGTCGCATCTTCAACCCCCATCT|GTTCTGGGGCTGCTGGTATGGACGCTTATTGCTGGAACTGAGTACTTCCGGGTCCCCGCATTTGGCTGGGTCATGTTTGTAGCTGTATTTTACTGGGTCCTCACCGTCTTCTTCCTCATTATCTACAcAACAATGACCTACACCAGGATTCCCCAGGTGCCCTGGACAACAGTG___GGCCTGTGCTTTAACGGCAGTGCCTTCGTCTTGTACCTCTCTGCCGCTGTTGTAGATGCATCTTCCGTCTCCCCTGAGAGGGACAGTCACAACTTCAACAGCTGGGCGGCCTC(ATCG___TTCTTTGCCTTCCTGGTCACCATCTGCTACGCTGGAAATACATATTTCAGTTTTATAGCATGGAGATCCAGGACCATACAGTGATTTACCATTTTGATAATTAAAAGGAAAAAAAAAGGAAGACTCTCACTGTAAAAACAGCTGTAGGTATAATGTATATTCCCAGAGAATTGTATTTAACTAATTAATGTTTTTTATATTCTTAAATTTGCTCACAAATTGTGGTTTGTTACAATTAAACTGGATACTTATTTGCAAAGTGTTGTAGCTTATAATGAACTCTTAAGTATCTTATTAATGTATTAATGTCTTCATAGATCATATTTTCTTAGACAATGTTTAAATAGATAAATTGCTAATATTGAGAATGTGTCAAGTTTGTAAACCTAACTTTTAAGATGCCAGATTCTTTTTTGATTAAATGTTGCAAAATCCCAA)$ METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRIFNPHl|fwgcwygrlllelstsgsphlagscl* 09CO014 ENSG00000177694.16 ENSG00000177694.16(108898),ENSG00000260217.1(19483) +/+ ./+ chr3:175755418 chr3:175919446 CDS/splice-site intergenic deletion/read-through 1 2 0 50 3 medium out-of-frame . Peptidase_family_M28(100%)| . . ENSG00000177694.16 . ENST00000454872.6 . downstream upstream . ^(AGAAGGTCACAAAGCTTGCAGGGTAAGTGACACAACTTGAAACTGCTTGGCCCTCTTTAAAAAGAAATAATAAAATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAG___GTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTACTTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAGAATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGACTACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATTTTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAAGATATTAAGAAGTCTTTCAG___AAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAAGATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAGCCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAG___GCTGAAGTCATCGATGTGAGTTATGGAATGGCAGATGATTTAAAAAGGATTAGGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTAGGAAAATTGCCACTGCTTTATAAG___CTTTCCTCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAATCCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCG___ATGAAAGTTTTAGACAAAGCCGATCAAACCTCACCTCTCTATTAGTGCAGCCCATCTCTGCACCCCTCGTTGCAAAACTGATCTCTTCGCCAAAAGCTAGAACCAAAAATGAAGCGTGTAGCTCTCTAGAGCTTCCAAATAATG___AAATAAGAGTCGTCAGCATGCAAGTTCAGACAGTCACAAAATTGAAAACAGTTACTAATGTTGTTGGATTTGTAATGGGCTTGACATCTCCAG___ACCGGTATATCATAGTTGGCAGCCATCATCACACTGCACACAGTTATAATGGACAAGAATGGGCCAGTAGTACTGCAATAATCACAGCGTTTATCCGTGCCTTGATGTCAAAAGTTAAGAGAGGGTGGAGACCAGACCGAACTATTGTTTTCTGTTCTTGGGGAGGAACAGCTTTTGGCAATATTGGCTCATATGAATGGGGAGAG___GATTTCAAGAAGGTTCTTCAGAAAAATGTTGTGGCTTATATTAGCCTCCACAGTCCCATAAGGGGGAACTCTAGTCTGTATCCTGTAGCATCACCATCTCTTCAGCAACTGGTAGTAGAG___AAAAATAATTTCAACTGTACCAGAAGAGCCCAGTGCCCAGAAACCAATATCAGTTCTATACAGATACAAGGTGATGCTGATTATTTCATCAACCATCTTGGAGTTCCCATCGTGCAGTTTGCTTACGAGGACATCAAAACATTAGAG___GGTCCAAGTTTTCTCTCCGAGGCCCGTTTTTCTACACGAGCAACAAAAATTGAAGAAATGGATCCCTCTTTCAACCTTCATGAAACCATTACTAAG___CTCTCAGGAGAAGTGATTTTGCAAATTGCCAACGAACCTGTTCTGCCCTTTAATGCACTTGATATAGCTTTAGAAGTTCAAAACAACCTTAAAG___GTGATCAACCCAACACTCATCAACTGTTAGCCATGGCGTTACGCCTGCGGGAGAGT)GCTGAACTTTTTCAGTCTGATGAGATGCGACCTGCTAATGATCCCAAGGAGAGAGCACCCATCCGCATCCGGATGCTGAATGACATTCTCCAAGACATGGAGAAAAGCTTTCTGGTAAAGCAGGCACCACCAGGT?TTTATAG|GCTCAGCACTATGTGGAAGCTGCCAAGGCTTAGGCCTTAAACCCTCTGAAGCTATGTCCTGACCTCTATGTTGGCCCCTTTCAACCAGAGCTGGAGCAGCTGGGATGCAGCGCACCAAGTTCCTAGGCTACACACAGCACAGTGACCCTGGGCCCCAGCCC MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESDYITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLEDVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLSSLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSVDESFRQSRSNLTSLLVQPISAPLVAKLISSPKARTKNEACSSLELPNNEIRVVSMQVQTVTKLKTVTNVVGFVMGLTSPDRYIIVGSHHHTAHSYNGQEWASSTAIITAFIRALMSKVKRGWRPDRTIVFCSWGGTAFGNIGSYEWGEDFKKVLQKNVVAYISLHSPIRGNSSLYPVASPSLQQLVVEKNNFNCTRRAQCPETNISSIQIQGDADYFINHLGVPIVQFAYEDIKTLEGPSFLSEARFSTRATKIEEMDPSFNLHETITKLSGEVILQIANEPVLPFNALDIALEVQNNLKGDQPNTHQLLAMALRLRESAELFQSDEMRPANDPKERAPIRIRMLNDILQDMEKSFLVKQAPPG?Yr|lstmwklprlrp* 09CO014 ENSG00000153187.20 ENSG00000226828.2 -/- +/- chr1:244854225 chr1:243966616 3'UTR intron deletion/5'-5' 1 2 0 264 6 medium stop-codon . AAA_domain(100%),SAP_domain(100%),SPRY_domain(100%)| . . ENSG00000153187.20 ENSG00000226828.2 ENST00000444376.7 . upstream downstream . ^(CGGCGCCGCTCCTGCGAGAGGACGTTGCGTGCTCGCTCGCGCCAGGCGAGTCTCCGCGTCTCCCTCGCGAACTCGGTGAAAGGAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGCCGCCGCCCGGGCCGAGGAGCAGCCGCAGCAGCCGCCACCAGTGGCCGAGTGAGCGGAGCCGAGTTTGAGGCAGCGCCTAGCGGTGAATCGGGGCCCTCACCATGAGTTCCTCGCCTGTTAATGTAAAAAAGCTGAAGGTGTCGGAGCTGAAAGAGGAGCTCAAGAAGCGACGCCTTTCTGACAAGGGTCTCAAGGCCGAGCTCATGGAGCGACTCCAGGCTGCGCTGGACGACGAGGAGGCCGGGGGCCGCCCCGCCATGGAGCCCGGGAACGGCAGCCTAGACCTGGGCGGGGATTCCGCTGGGCGCTCGGGAGCAGGCCTCGAGCAGGAGGCCGCGGCCGGCGGCGATGAAGAGGAGGAGGAAGAGGAAGAGGAGGAGGAAGGAATCTCCGCTCTGGACGGCGACCAGATGGAGCTAGGAGAGGAGAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGGAGGAGGCCGCCTCGGAAGACGAGAACGGCGACGATCAGGGTTTCCAGGAAGGGGAAGATGAGCTCGGGGACGAAGAGGAAGGCGCGGGCGACGAGAACGGGCACGGGGAGCAGCAGCCTCAACCGCCGGCGACGCAGCAGCAACAGCCCCAACAGCAGCGCGGGGCCGCCAAGGAGGCCGCGGGGAAGAGCAGCGGCCCCACCTCGCTGTTCGCGGTGACGGTGGCGCCGCCCGGGGCGAGGCAGGGCCAGCAGCAGGCGGGAG___GGGACGGCAAAACAGAACAGAAAGGCGGAGATAAAAAGAGGGGTGTTAAAAGACCACGAGAAGATCATGGCCGTGGATATTTTGAGTACATTGAAGAGAACAAGTATAGCAG___AGCCAAATCTCCTCAGCCACCTGTTGAAGAAGAAGATGAACACTTCGATGACACAGTGGTTTGTCTTGATACTT___ATAATTGTGATCTACATTTTAAAATATCAAGAGATCGTCTCAGTGCTTCTTCCCTTACAATGGAGAGTTTTGCTTTTCTTTGGGCTGGAGGAAGAGCATCCTATGGTGTGTCAAAAGGCAAAGTGTGTTTTGAGATGAAG___GTTACAGAGAAGATCCCAGTAAGGCATTTATATACAAAAGATATTGACATACATGAAGTTCGTATTGGCTGGTCACTAACTACAAGTGGAATGTTACTTG___GTGAAGAAGAATTTTCTTATGGGTATTCTCTAAAAGGAATAAAAACATGCAACTGTGAGACTGAAGATTATGGAGAAAAGTTTGATGAAAATGATGTGATTACATGTTTTGCT___AACTTTGAAAGTGATGAAGTAGAACTCTCGTATGCTAAGAATGGACAAGATCTTGGCGTTGCCTTCAAAATCAGTAAGGAAGTTCTTGCTGGACGGCCACTGTTCCCGCATGTTCTCTGCCACAACTGTGCAGTTGAATTTAATTTTGGTCAGAAGGAAAAGCCATATTTTCCAATACCTGAAGAGTATACTTTCATCCAGAACGTCCCCTTAGAGGATCGAGTTAGAGGACCAAAGGGGCCTGAAGAGAAGAAAGATTGTGAA___GTTGTGATGATGATTGGCTTGCCAGGAGCTGGAAAAACTACCTGGGTTACTAAACATGCAGCAGAAAATCCAGGGAAATATAACATTCTTGGCACAAATACTATTATGGATAAGATGATG___GTGGCAGGTTTTAAGAAGCAAATGGCAGATACTGGAAAACTGAACACACTGTTGCAGAGAGCCCCCCAGTGTCTTGGGAAATTTATTGAGATTGCTGCCCGAAAGAAGCGAAATTTTATTCTGGATCAG___ACAAATGTGTCTGCTGCTGCCCAGAGGAGAAAAATGTGCCTGTTTGCAGGCTTCCAGCGAAAAGCTGTTGTAGTTTGCCCAAAAGATGAAGACTATAAGCAAAGAACACAGAAGAAAGCAGAAGTAGAGGGGAAAGACCTACCAGAACATGCGGTCCTCAAAATGAAAG___GAAACTTTACCCTCCCAGAGGTAGCTGAGTGCTTTGATGAAATAACCTATGTTGAACTTCAGAAGGAAGAAGCCCAAAAACTCTTGGAGCAATATAAGGAAGAAAGCAAAAAGGCTCTTCCACCAGAAAAGAAACAGAACACTGGCTCAAAGAAAAGCAATAAAAATAAGAGTGGCAAGAACCAGTTTAACAGAGGTGGTGGCCATAGAGGACGTGGAGGATTCAATATGCGTGGTGGAAATTTCAGAGGAGGAG___CCCCTGGGAATCGTGGCGGATATAATAGGAGGGGCAACATGCCACAGAGAGGTGGTGGCGGTGGAGGAAGTGGTGGAATCGGCTATCCATACCCTCGTGCCCCTGTTTTTCCTGGCCGTGGTAGTTACTCAAACAGAGGGAACTACAACAGAGGTGGAATGCCCAACAGAGGGAACTACAACCAG___AACTTCAGAGGACGAGGAAACAATCGTGGCTACAAAAATCAATCTCAGGGCTACAACCAGTGGCAGCAGGGT___CAATTCTGGGGTCAGAAGCCATGGAGTCAGCATTATCACCAAGGATATTATTGAATACCCAAATAAAACGAACTGATACATATTTCTCCAAAACCTTCACAAGAAGTCGACTGTTTTCTTTAGTAGGCTAACTTTTTAAACATTCCACAAGAGG)AAGTGCCTGCGGGTTCCTTTTTTAGAAGCTTTGTGGGTTGATTTTTTTTCTTTTCTTTTTTGTACATTTTTAATTGCAGTTTAAAAGTGAATCGTAAGAGAACCTCAGCATTGTGCACGATAAGA|AACATAATATGTATCTCCATTTAAATATGTATTTAATTAgAATGCTTTCTAATTAAATGTATTTTTAATATGGAAGCAGAAGAACAAAAAAGGCAATATGTTTTTTAAAATCAGGTCTCTGGCAGAAGTCATGTTGGAAACTTATGGAGCTTAATAAAGAAATCCTTCCCAACATAGATTGTACAAACATCAGGAAGGAGAGAGAAACGAACTAAAAGGATTGGTTGCCAG . 09CO014 ENSG00000177694.16 ENSG00000230362.1(57403),ENSG00000236357.1(32069) +/+ ./+ chr3:175755418 chr3:176035973 CDS/splice-site intergenic deletion/read-through 1 1 0 50 5 medium out-of-frame . Peptidase_family_M28(100%)| . . ENSG00000177694.16 . ENST00000454872.6 . downstream upstream . ^(AGAAGGTCACAAAGCTTGCAGGGTAAGTGACACAACTTGAAACTGCTTGGCCCTCTTTAAAAAGAAATAATAAAATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAG___GTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTACTTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAGAATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGACTACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATTTTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAAGATATTAAGAAGTCTTTCAG___AAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAAGATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAGCCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAG___GCTGAAGTCATCGATGTGAGTTATGGAATGGCAGATGATTTAAAAAGGATTAGGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTAGGAAAATTGCCACTGCTTTATAAG___CTTTCCTCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAATCCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCG___ATGAAAGTTTTAGACAAAGCCGATCAAACCTCACCTCTCTATTAGTGCAGCCCATCTCTGCACCCCTCGTTGCAAAACTGATCTCTTCGCCAAAAGCTAGAACCAAAAATGAAGCGTGTAGCTCTCTAGAGCTTCCAAATAATG___AAATAAGAGTCGTCAGCATGCAAGTTCAGACAGTCACAAAATTGAAAACAGTTACTAATGTTGTTGGATTTGTAATGGGCTTGACATCTCCAG___ACCGGTATATCATAGTTGGCAGCCATCATCACACTGCACACAGTTATAATGGACAAGAATGGGCCAGTAGTACTGCAATAATCACAGCGTTTATCCGTGCCTTGATGTCAAAAGTTAAGAGAGGGTGGAGACCAGACCGAACTATTGTTTTCTGTTCTTGGGGAGGAACAGCTTTTGGCAATATTGGCTCATATGAATGGGGAGAG___GATTTCAAGAAGGTTCTTCAGAAAAATGTTGTGGCTTATATTAGCCTCCACAGTCCCATAAGGGGGAACTCTAGTCTGTATCCTGTAGCATCACCATCTCTTCAGCAACTGGTAGTAGAG___AAAAATAATTTCAACTGTACCAGAAGAGCCCAGTGCCCAGAAACCAATATCAGTTCTATACAGATACAAGGTGATGCTGATTATTTCATCAACCATCTTGGAGTTCCCATCGTGCAGTTTGCTTACGAGGACATCAAAACATTAGAG___GGTCCAAGTTTTCTCTCCGAGGCCCGTTTTTCTACACGAGCAACAAAAATTGAAGAAATGGATCCCTCTTTCAACCTTCATGAAACCATTACTAAG___CTCTCAGGAGAAGTGATTTTGCAAATTGCCAACGAACCTGTTCTGCCCTTTAATGCACTTGATATAGCTTTAGAAGTTCAAAACAACCTTAAAG___GTGATCAACCCAACACTCATCAA)CTGTTAGCCATGGCGTcACGCCTGCGGGAGAGTGCTGAACTTTTTCAGTCTGATGAGATGCGACCTGCTAATGATtCCAAGGAGAGAGCACCCATCCGCATCCGGATGCTGAATGACATTCTCCAAGACATGGAGAAAAGCTTTCTGGTAAAGCAGGCACCACCAGGTTTTTATAG|ATGCCAAGAAACGGGATTGCTGGATTATATGGCAGTTCCATTTTTAATTTTATGAGGAATCTTCATACTGTTTTCCATATTGGCTGTACTAATTTAC MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESDYITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLEDVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLSSLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSVDESFRQSRSNLTSLLVQPISAPLVAKLISSPKARTKNEACSSLELPNNEIRVVSMQVQTVTKLKTVTNVVGFVMGLTSPDRYIIVGSHHHTAHSYNGQEWASSTAIITAFIRALMSKVKRGWRPDRTIVFCSWGGTAFGNIGSYEWGEDFKKVLQKNVVAYISLHSPIRGNSSLYPVASPSLQQLVVEKNNFNCTRRAQCPETNISSIQIQGDADYFINHLGVPIVQFAYEDIKTLEGPSFLSEARFSTRATKIEEMDPSFNLHETITKLSGEVILQIANEPVLPFNALDIALEVQNNLKGDQPNTHQLLAMAsRLRESAELFQSDEMRPANDsKERAPIRIRMLNDILQDMEKSFLVKQAPPGFYr|cqetglldymavpflil* 09CO015 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 20 0 43 49 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),mismappers(1),mismatches(2) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAG(AACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO015 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 24 106 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismatches(1) GCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09CO015 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 6 0 205 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO015 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 8 0 22 25 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCC(GTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO015 ENSG00000083168.11 ENSG00000253123.4(72115),ENSG00000253746.1(1333) -/- ./+ chr8:42048378 chr8:37404106 CDS/splice-site intergenic inversion 2 3 1 38 8 high out-of-frame . . . . ENSG00000083168.11 . ENST00000406337.6 . upstream upstream low_entropy(1) ^(GGAGCTCACTGTCTCCAAGATGGCGGCCGTGTCAGTTTGGGGCATCTCCGCGGTCCGGCCCGGGGCCCCGGGATCTCGGCTGTCCTTCCTCCCG___GATTCTTTCTACTAATCCAGATACTTGTTGAAGTGCTGACTAGTTTCTTGGGGAAAGATGTCAAGGAAGAGTTGAAATTCCTAGACTG___GCATAAGATGCACATTTTTCTGCTCTGGAGCCGGGAATGAAATATTCTTGAGTTCTTACAACTTTATGACGAGACCCATGTGTGGTGCTATTGAGAAATTCATTGGGAAGTTGGAAGACATTTCAATCAACAGGTTGTTTTGGTTTCTATAGTACAATTGGGGTGGCATTCTGTTTTGTGAAAGGAGGAAGGACTTAGGCCAGAAAACTCATATGCTATGGTTAACTGGTTCCCAGCCTCCGAGAATCTTGTTTTCCATGGTGTAAAACTTACTCAGCATCAGGATAAGGGATAACGACTCTATGGATATACAGAATCCTTCACCATGGTAAAACTCGCAAACCCGCTTTATACTGAGTGGATTTTGGAGGCCATCAAAAAAGTGAAAAAGCAGAAACAGCGTCCTTCAGAAGAAAGGATATGCAATGCTGTGTCTTCATCCCATGGCTTGGATCGTAAAACTGTTTTAGAACAATTGGAGTTGAGTGTTAAAGATGGAACAATTTTAAAAGTCTCAAATAAAGGACTCAATTCCTATAAAGATCCTGATAATCCTGGGCGAATAGCACTTCCTAAGCCTCGGAACCATGGAAAATTGGATAATAAACAAAATGTGGATTGGAATAAACTGATAAAGCGGGCAGTTGAGGGCTTGGCAGAGTCTGGTGGCTCAACTTTGAAA)AGCATTGAACGTTTTTTGAAAGGTCAGAAGGATGTGTCTGCATTATTCGGAGGCAGTGCTGCCTCTGGCTTTCACCAGCAGTTACGATTGGCTATCAAACGTGCCATTGGCCACGGCAGACTCCTTAAAGATGGACCTCTTTATCGGCTCAACACTAAAGCAACCAACGTGGATGGGAAAGAGAGTTGTGAGTCTCTTTCCTGTTTACCTCCAGTGTCCCTTCTTCCACATGAAAAGGATAAG|AAGCAAGCAAGAAAGAAAGGTAAACAACTTAAGGACGGTAGAACTCGGCCTTGACAATGGCTGGACCCAGGGACCTTCAGGCTCTCAGGATTCTCCTTCTCCATCTCCTGACTCTGCTTCTCTGTGTGCTGGCTCCCTTCTCTCCTTCTGCAGGATGTATTCTTTACATGGTGGAGGACAGGACTTCCAGgATCCCTGGATCCACATCCCAACAGCTCTGCC MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDK|kqarkkgkqlkdgrtrp* 09CO015 ENSG00000232815.1 ENSG00000105976.15 -/+ +/- chr9:63817907 chr7:116784155 exon intron translocation 4 5 0 22 19 medium . . . . . ENSG00000232815.1 ENSG00000105976.15 . . downstream downstream . AGGAGTGGTTCtAGCAAAGCGGGCTCTTCCACGTCCTTCAGCTCCCCCAGTGGCGCCGGATCTAGcAAAGGTTGTGCCTTTTGCTGAAACTCTGGGGTTGACAGGAGCTCATCTAACAGGCTGGAG|GTGCTTATACTTTCCTGCTCTTCTGCCACACCTGGATCGGTATTTCCATTGCCCAGCTGCCCAACTCCAAACCTGCTGTCCTTTAACCCAATTCAAATGCCACTTCTCCATATGGTGGAAGGGGAATGTGGTGAATCTGGCTGCCCAG___GAGCAGGCTCAATGGAGAAAAGAGTGTGAAACTCAACCTTCTTAGCAATGATGACAGAG . 09CO015 ENSG00000122566.21 ENSG00000070882.13 -/- -/+ chr7:26192495 chr7:24956060 3'UTR/splice-site intron inversion/5'-5' 3 1 0 2240 22 medium stop-codon . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000122566.21 ENSG00000070882.13 ENST00000608362.2 . upstream upstream . ^(GGGGTCAGTTCCACAGACGCGGGCCAGGGGTGGGTCATTGCGGCGTGAACAATAATTTGACTAGAAGTTGATTCGGGTGTTTCCGGAAGGGGCCGAGTCAATCCGCCGAGTTGGGGCACGGAAAACAAAAAGGGAAGGCTACTAAGATTTTTCTGGCGGGGGTTATCATTGGCGTAACTGCAGGGACCACCTCCCGGGTTGAGGGGGCTGGATCTCCAGGCTGCGGATTAAGCCCCTCCCGTCGGCGTTAATTTCAAACTGCGCGACCGTTTCTCACCTGCCTTGCGCCAAGGCAGGGGGCGGGACCCTATTCCAAGAGGTAGTAACTAGCAGGACTCTAGCCTTCCGCAATTCATTGAGCGCATTTACGGAAGTAACGTCGGGTACTGTCTCTGGCCGCAAGGGTGGGAGGAGTACGCATTTGGCGTAAGGTGGGGCGTAGAGCCTTCCCGCCATTGGCGGCGGATAGGGCGTTTACGCGACGGCCTGACGTAGCGGAAGACGCGTTAGTGGGGGGGAAGGTTCTAGAAAAGCGGCGGCAGCGGCTCTAGCGGCAGTAGCAGCAGCGCCGGGTCCCGTGCGGAGGTGCTCCTCGCAGAGTTGTTTCTCGAGCAGCGGCAGTTCTCACTACAGCGCCAGGACGAGTCCGGTTCGTGTTCGTCCGCGGAGATCTCTCTCATCTCGCTCGGCTGCGGGAAATCGGGCTGAAGCGACTGAGTCCGCGATGGAG___AGAGAAAAGGAACAGTTCCGTAAGCTCTTTATTGGTGGCTTAAGCTTTGAAACCACAGAAGAAAGTTTGAGGAACTACTACGAACAATGGGGAAAGCTTACAGACTGTGTG___GTAATGAGGGATCCTGCAAGCAAAAGATCAAGAGGATTTGGTTTTGTAACTTTTTCATCCATGGCTGAGGTTGATGCTGCCATGGCTGCAAGACCTCATTCAATTGATGGGAGAGTAGTTGAGCCAAAACGTGCTGTAGCAAGAGAG___GAATCTGGAAAACCAGGGGCTCATGTAACTGTGAAGAAGCTGTTTGTTGGCGGAATTAAAGAAGATACTGAGGAACATCACCTTAGAGATTACTTTGAGGAATATGGAAAAATTGATACCATTGAGATAATTACTGATAGGCAGTCTGGAAAGAAAAGAGGCTTTGGCTTTGTTACTTTTGATGACCATGATCCTGTGGATAAAATCGTAT___TGCAGAAATACCATACCATCAATGGTCATAATGCAGAAGTAAGAAAGGCTTTGTCTAGACAAGAAATGCAGGAAGTTCAGAGTTCTAGGAGTGGAAGAGGAG___GCAACTTTGGCTTTGGGGATTCACGTGGTGGCGGTGGAAATTTCGGACCAGGACCAGGAAGTAACTTTAGAGGAGGATCTG___ATGGATATGGCAGTGGACGTGGATTTGGGGATGGCTATAATGGGTATGGAGGAGGACCTGGAG___GTGGCAATTTTGGAGGTAGCCCCGGTTATGGAGGAGGAAGAGGAGGATATGGTGGTGGAGGACCTGGATATGGCAACCAGGGTGGGGGCTACGGAGGTGGTTATGACAACTATGGAGGAG___GAAATTATGGAAGTGGAAATTACAATGATTTTGGAAATTATAACCAGCAACCTTCTAA)CTACGGTCCAATGAAGAGTGGAAACTTTGGTGGTAGCAGGAACATGGGGGGACCATATGGTGGAG___GAAACTATGGTCCAGGAGGCAGTGGAGGAAGTGGGGGTTATGGTGGGAGGAGCCGATACTGAGCTTCTTCCTATTTGCCATGG|GTCCTGGATCAGTCTCCACGGAAAATACTCACTGACTCCTCCCAGGATGAAAGTGACCCACAGTCAACATCTGGATGTGAACGCAGTGCTGATTCCCATCATGCATAAACCCACTTAGCCATGAAAGCTTCAATAAAACTGCTCTGTGACTGAAATACTGCAAAGCCTGCCCCAGGGCAAAGCCTGCCCCTGACTCAGCCTCAAAG . 09CO015 ENSG00000106113.19 ENSG00000105810.10 -/+ -/- chr7:30698230 chr7:92725793 intron CDS/splice-site inversion/3'-3' 1 1 0 20 49 medium . . |Protein_kinase_domain(100%) . . ENSG00000106113.19 ENSG00000105810.10 . ENST00000424848.3 downstream downstream duplicates(1) CTTCCCTCCCGACTGCCTGCTCCAGGTCTCATCGTCTCAGGACCCGGGAAAAAGTCCCATTGCCATGAAGGCCCCGTGAGAGGAAGGCTGGGCTTTGGCGTCAGAAAGGCCGAGGTTTAAGTGCTCTCCAGCTGCTTACATGCTGAGTGGCTGTGG|GATATGATGTTTCAGCTTCTCCGAGGTCTGGACTTTCTTCATTCACACCGAGTAGTGCATCGCGATCTAAAACCACAGAACATTCTGGTGACCAGCAGCGGACAAATAAAACTCGCTGACTTCGtCCTTGCCCGCATCTATAGTTTCCAGATGGCTCTAACCTCAGTG___GTCGTCACGCTG(TGGTACAGAGCACCCGAAGTCTTGCTCCAGTCCAGCTACGCCACCCCCGTGGATCTCTGGAGTGTTGGCTGCATATTTGCAGAAATGTTTCGTAGAAA___GCCTCTTTTTCGTGGAAGTTCAGATGTTGATCAACTAGGAAAAATCTTGGA___CGTGATTGGACTCCCAGGAGAAGAAGACTGGCCTAGAGATGTTGCCCTTCCCAGGCAGGCTTTTCATTCAAAATCTGCCCAACCAATTGAGAAGTTTGTAACAGATATCGATGAACTAGGCAAAGACCTACTTCTG___AAGTGTTTGACATTTAACCCAGCCAAAAGAATATCTGCCTACAGTGCCCTGTCTCACCCATACTTCCAGGACCTGGAAAGGTGCAAAGAAAACCTGGATTCCCACCTGCCGCCCAGCCAGAACACCTCGGAGCTGAATACAGCCTGAGGCCTCAGCAGCCGCCTTAAGCTGATCCTGCGGAGAACACCCTTGGTGGCTTATGGGTCCCCCTCAGCAAGCCCTACAGAGCTGTGGAGGATTGCTATCTGGAGGCCTTCCAGCTGCTGTCTTCTGGACAGGCTCTGCTTCTCCAAGGAAACCGCCTAGTTTACTGTTTTGAAATCAATGCAAGAGTGATTGCAGCTTTATGTTCATTTGTTTGTTTGTTTGTCTGTTTGTTTCAAGAACCTGGAAAAATTCCAGAAGAAGAGAAGCTGCTGACCAATTGTGCTGCCATTTGATTTTTCTAACCTTGAATGCTGCCAGTGTGGAGTGGGTAATCCAGGCACAGCTGAGTTATGATGTAATCTCTCTGCAGCTGCCGGGCCTGATTTGGTACTTTTGAGTGTGTGTGTGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGAGAGATTCTGTGATCTTTTAAAGTGTTACTTTTTGTAAACGACAAGAATAATTCAATTTTAAAGACTCAAGGTGGTCAGTAAATAACAGGCATTTGTTCACTGAAGGTGATTCACCAAAATAGTCTTCTCAAATTAGAAAGTTAACCCCATGTCCTCAGCATTTCTTTTCTGGCCAAAAGCAGTAAATTTGCTAGCAGTAAAAGATGAAGTTTTATACACACAGCAAAAAGGAGAAAAAATTCTAGTATATTTTAAGAGATGTGCATGCATTCTATTTAGTCTTCAGAATGCTGAATTTACTTGTTGTAAGTCTATTTTAACCTTCTGTATGACATCATGCTTTATCATTTCTTTTGGAAAATAGCCTGTAAGCTTTTTATTACTTGCTATAGGTTTAGGGAGTGTACCTCAGATAGATTTTAAAAAAAAGAATAGAAAGCCTTTATTTCCTGGTTTGAAATTCCTTTCTTCCCTTTTTTTGTTGTTGTTATTGTTGTTTGTTGTTGTTATTTTGTTTTTGTTTTTAGGAATTTGTCAGAAACTCTTTCCTGTTTTGGTTTGGAGAGTAGTTCTCTCTAACTAGAGACAGGAGTGGCCTTGAAATTTTCCTCATCTATTACACTGTACTTTCTGCCACACACTGCCTTGTTGGCAAAGTATCCATCTTGTCTATCTCCCGGCACTTCTGAAATATATTGCTACCATTGTATAACTAATAACAGATTGCTTAAGCTGTTCCCATGCACCACCTGTTTGCTTGCTTTCAATGAACCTTTCATAAATTCGCAGTCTCAGCTTATGGTTTATGGCCTCGATTCTGCAAACCTAACAGGGTCACATATGTTCTCTAATGCAGTCCTTCTACCTGGTGTTTACTTTTGTTACCTAAATAATGAGTAGGATCTTGTTTTGTTTTATCACCAGCACACAGATTGCTATAAACTGTTACTTTGTGAATTACATTTTTATAGAAGATATTTTCAGTGTCTTTACCTGAGGGTATGTCTTTAGCTATGTTTTAGGGCCATACATTTACTCTATCAAATGATCTTTTCTCCATCCCCCAGGCTGTGCTTATTTCTAGTGCCTTGTGCTCACTCCTGCTCTCTACAGAGCCAGCCTGGCCTGGGCATTGTAAACAGCTTTTCCTTTTTCTCTTACTGTTTTCTCTACAGTCCTTTATATTTCATACCATCTCTGCCTTATAAGTGGTTTAGTGCTCAGTTGGCTCTAGTAACCAGAGGACACAGAAAGTATCTTTTGGAAAGTTTAGCCACCTGTGCTTTCTGACTCAGAGTGCATGCAACAGTTAGATCATGCAACAGTTAGATTATGTTTAGGGTTAGGATTTTCAAAGAATGGAGGTTGCTGCACTCAGAAAATAATTCAGATCATGTTTATGCATTATTAAGTTGTACTGAATTCTTTGCAGCTTAATGTGATATATGACTATCTTGAACAAGAGAAAAAACTAGGAGATGTTTCTCCTGAAGAGCTTTTGGGGTTGGGAACTATTCTTTTTTAATTGCTGTACTACTTAACATTGTTCTAATTCAGTAGCTTGAGGAACAGGAACATTGTTTTCTAGAGCAAGATAATAAAGGAGATGGGCCATACAAATGTTTTCTACTTTCGTTGTGACAACATTGATTAGGTGTTGTCAGTACTATAAATGCTTGAGATATAATGAATCCACAGCATTCAAGGTCAGGTCTACTCAAAGTCTCACATGGAAAAGTGAGTTCTGCCTTTCCTTTGATCGAGGGTCAAAATACAAAGACATTTTTGCTAGGGCCTACAAATTGAATTTAAAAACTCACTGCACTGATTCATCTGAGCTTTTTGGTTAGTATTCATGGCTAGAGTGAACATAGCTTTAGTTTTTGCTGTTGTAAAAGTGTTTTCATAAGTTCACTCAAGAAAAATGCAGCTGTTCTGAACTGGAATTTTTCAGCATTCTTTAGAATTTTAAATGAGTAGAGAGCTCAACTTTTATTCCTAGCATCTGCTTTTGACTCATTTCTAGGCAGTGCTTATGAAGAAAAATTAAAGCACAAACATTCTGGCATTCAATCGTTGGCAGATTATCTTCTGATGACACAGAATGAAAGGGCATCTCAGCCTCTCTGAACTTTGTAAAAATCTGTCCCCAGTTCTTCCATCGGTGTAGTTGTTGCATTTGAGTGAATACTCTCTTGATTTATGTATTTTATGTCCAGATTCGCCATTTCTGAAATCCAGATCCAACACAAGCAGTCTTGCCGTTAGGGCATTTTGAAGCAGATAGTAGAGTAAGAACTTAGTGACTACAGCTTATTCTTCTGTAACATATGGTTTCAAACATCTTTGCCAAAAGCTAAGCAGTGGTGAACTGAAAAGGGCATATTGCCCCAAGGTTACACTGAAGCAGCTCATAGCAAGTTAAAATATTGTGACAGATTTGAAATCATGTTTGAATTTCATAGTAGGACCAGTACAAGAATGTCCCTGCTAGTTTCTGTTTGATGTTTGGTTCTGGCGGCTCAGGCATTTTGGGAACTGTTGCACAGGGTGGAGTCAAAACAACCTACATATAAAAAGAGAAAAAGAGAAACTTGTCCATTTAGCTTTCATAAGAAATCCCATGGCAAAGGGTAATAAAAAGGACCTAATCTTAAAAATACAATTTCTAAGCACTTGTAAGAACCCAGTGGGTTGGAGCCTCCCACTTTGTCCCTCCTTTGAAGTGGATGGGAACTCAAGGTGCAAAGAACCTGTTTTGGAAGAAAGCTTGGGGCCATTTCAGCCCCCTGTATTCTCATGATTTTCTCTCAGGAAGCACACACTGTGAATGGCAGACTTTTCATTTAGCCCCAGGTGACTTACTAAAAATAGTTGAAAATTATTCACCTAAGAATAGAATCTCAGCATTGTGTTAAATAAAAATGAAAGCTTTAGAAGGCATGAGATGTTCCTATCTTAAATAAAGCATGTTTCTTTTCTATAGAGAAATGTATAGTTTGACTCTCCAGAATGTACTATCCATCTTGATGAGAAAACTCTTAAATAGTACCAAACATTTTGAACTTTAAATTATGTATTTAAAGTGAGTGTTTAAGAAACTGTAGCTGCTTCTTTTACAAGTGGTGCCTATTAAAGTCAGTAATGGCCATTATTGTTCCATTGTGGAAATTAAATTATGTAAGCTTCCTAATATCATAAACATATTAAAATTCTTCTAAAATATTGCTTTTCTTTTAAGTGACAATTTGACTATTCTTATGATAAGCACATGAGAGTGTCTTACATTTTCCAAAAGCAGGCTTTAATTGCATAGTTGAGTCTAGGAAAAAATAATGTTAAAAGTGAATATGCCACCATAATTACTTAATTATGTTAGTATAGAAACTACAGAATATTTACCCTGGAAAGAAAATATTGGAATGTTATTATAAACTCTTAGATATTTATATAATTCAAAAGAATGCATGTTTCACATTGTGACAGATAAAGATGTATGATTTCTAAGGCTTTAAAAATTATTCATAAAACAGTGGGCAATAGATAAAGGAAATTCTGGAGAAAATGAAGGTATTTAAAGGGTAGTTTCAAAGCTATATATATTTTGAAGGATATATTCTTTATGAACAAATATATTGTAAAAATTTATACTAAGGTCATCTGGTAACTGTGGGATTAATATGGTCGAAAACAAATGTTATGGAGAAGCTGTCCCAAGCAAACTAAATTACCTGTACTTTTTTCCCATTTCAAGGGAAGAGGCAACCACATGAAGCAATACTTCTTACACATGCCTAAGAACGTTCATTGAAAAAATAAATTTTTAAAAGGCATGTGTTTCCTATGCCACCAATACTTTTGAAAAATTGTGAACCTTACCCAAAACCATTTATCATGTCCATTAAGTATATTTGGGTATATAATTAGGAAGATATTTACATGTTCCATCTCCACAGTGGAAAAACTTATTGAGGCTACCAAAGTGTGCCAAGAAATGTAAGTCCTTAGAGTAATTAGAAATGCTGTTTTCCTCAAAAGCATGAGAAACTAGCATTTTCATTTCTTATTTACTCCCTTTCTATATCAATGCAATTCACAACCCAATTTTAATACATCCCTATATCTCAAGCATTTCTATCTTGTACTTTTTCAGAAAATAAACCAAAAATAATCCTTTGGTCTCTCTATCTTCTGACCTTTGTAAGCAACAGAAATGTAAAAACAGAAGGGGTCCAATTTTTACACGTTTTTTTCTCAAGTAGCCTTTCTGGGGATTTTTATTTTCTTAATGAAGTGCCAATCAGCTTTTCAAAATGTTTTCTATTTCTCAGCATTTCCAGGAAGTGATAACGTTTAGCTAAATGAGTAGAAGTGGACTTCCTTCAACATATTGTTACCTTGTCTAGCCTTAGGAAGAAAACAAGAGCCACCTGAAAATAAATACAGGCTCTTTTCGAGCATCTGCTGAAATACTGTTACAGCAATTTGAAGTTGATGTGGTAGGAAAGGAAGGTGACTTTTCTTGCAAAAGTCTTTCTAAACATTCACACTGTCCTAAGAGATGAGCTTTCTTGTTTTATTCCGGTATATTCCACAAGGTGGCACTTTTAGAGAAAAACAAATCTGATGAAGACTAAAGAGGTACTTCTAAAAGAGATTTCATTCTAACTTTATTTTTCTGCGCATATTTAACTCTTTCCTAGCACTTGTTTTTTGGGATGATTAATAGTCTCTATAATGTTCTGTAACTTCAATATTTTACTTGTTACCTAGGTTCTGAACAATTGTCTGCAAATAAATTGTTCTTAAGGATGGATAATACACCCATTTTGATCATTTAAGTAAAGAAAGCCTAGTCATTCATTCAGTCAAGAAAAAATTTTTGAAGTACCCAGTTACCTTACTTTTCTAGATTAAAACAGGCTTAGTTACTAAAAAGGCAGTCCTCATCTGTGAACAGGATAGTTTCGTTAGAAGTATAAAACTCCTTTAGTGGCCCCAGTTAAAACACACATACCCTCTCTGCTGCTTTCAAATTCCCTAGCATGGTGGCCTTTCAACATTGATTAAATTTTAAAATCCTAATTTAAAGATCAGGTGAGCAAAATGAGTAGCACATCAGTAATTCAGTAGACAAAACTTTTGTCTGAAAAATTGCTGTATTGAAACAGAGCCCTAAAATACCAAAAGACCAGGTAATTTTAACATTTGTGGAATCACAAATGTAAATTCATAAGAAGCTCTAATTAAAAAAAAAAAGTCTGAAGTATATGAGCATAACAACTTAGGAGTGTGTCTACATACTTAACTTTTGAAGTTTTTTGGCAACTTTATATACTTTTTTTAAATTTACAAGTCTACTTAAAGACTTCTTATACCCCAAATGATTAAGTTAATTTTAGAGGTCACCTTTCTCACAGCAGTGTCACTTGAAATTTAGTAGGGAAGGATATTGCAGTATTTTTCAGTTTCCTTAGCACAGCACCACAGAAAGCAGCTTATTCCTTTTGAGTGGCAGACACTCGACGGTGCCTGCCCAACTTTCCTCCTGAGTGGCAAGCAGATGAGTCTCAGTAATTCATACTGAACCAAAATGCCACATACACTAGGGGCAGTCAGAAACTGGCTGAGAAATCCCCCGCCTCATTCGCCCCTCTGCTCCCAGGAACTAGAGTCCAGTTAAAGCCCCTATGCGAAAGGCCGAATTCCACCCCAGGGTTTGTTATAACAGTGGCCAGTCTGAACCCCATTTGCTCGTGCTCAAAACTTGATTCCCACTTGAAAGCCTTCCGGGCGCGCTGCCTCGTTGCCCCGCCCCTTTGGCAGGAGAGAGGCAGTGGGCGAGGCCGGGCTGGGGCCCCGCCTCCCACTCACCTGCCGGTGCCTGAAATTATGTGCGGCCCCGCGGGCTGCTTTCCGAGGTCAGAGTGCCCTGCTGCTGTCTCAGAGGCATCTGTTCTGCAAATCTTAGGAAGAAAAATGTCCCTAGTAGCAAACGGGTGTCTTCTGTGCATAAATAAGTACAACACAATTCTCCGAAAGTTCGGGTAAAAAGAGATGCGGTAGCAGCTGCCCTGTGTGAAGCTGTCTACCCCGCATCTCTCAGGCGCTAAGCTCAGTTTTTGTTTTTGTTTTTGTTTTTTTAAAGAAAAGATGTATAATTGCAGGAATTTTTTTTTATTTTTTTATTTTCCATCATTCTATATATGTGATGGTGAAAGATATGCCTGGAAAAGTTTTGTTTTGAAAAGTTTATTTTCTGCTTCGTCTTCAGTTGGCAAAAGCTCTCAATTCTTTAGCTTCCAGTTTCTTTTCTCTCTTTTTCTTTGTTAGGTAATTAAAGGTATGTAAACAAATTATCTCATGTAGCAGGGGATTTTCATGTTGAGAGGAATCTTCCGTGTGAGTTGTTTGGTCACACAAATAACCCTTTCTCAATTTTAGGAGTTTGGATTGTCAAATGTAGGTTTTTCTCAAAGGGGGCATATAACTACATATTGACTGCCAAGAACTATGACTGTAGCACTAATCAGCACACATAGAGCCACACAATTATTTAATTTCTAACTCTCTGTGGTCCCTAGAAAAATTCCGTTGATGTGCTTAGGTTAAAGTTCTGAAGATACCCGTTGTACCCTTACTTGAAAGTTTCTAATCTTAAGTTTTATGAAATGCAATAATATGTATCAGCTAGCAATATTTCTGTGATCACCAACAACTCTCAGTTTGATCTTAAAGTCTGAATAATAAAACAAATCCCAGCAGTAATACATTTCTTAAACCTCACAGTGCATGATATATCTTTTCATTCTGATCCTGTGTTTGCAAAAATATACACATGTATATCATAGTTCCTCACTTTTTATTCATTTGTTTTCCTATTACCTGTAGTAAATATATTAGTTAGTACATGGAATTTATAGCATCAGCTACCCCCAGGAACAGCACCTGACAGGCGGGGGATTTTTTTTCAAGTTGTTCTACATTTGCATAAATTATTTCTATTATTATTCATGTATGTTATTTATTTCTGAATCACACTAGTCCTGTGAAAGTACAACTGAAGGCAGAAAGTGTTAGGATTTTGCATCTAATGTTCATTATCATGGTATTGATGGACCTAAGAAAATAAAAATTAGACTAAGCCCCCAAATAAGCTGCATGCATTTGTAACATGATTAGTAGATTTGAATATATAGATGTAGTATTTTGGGTATCTAGGTGTTTTATCATTATGTAAAGGAATTAAAGTAAAGGACTTTGTAGTTGTTTTTATTAAATATGCATATAGTAGAGTGCAAAAATATAGCAAAAATAAAAACTAAAGGTAGAAAAGCATTTTAGATATGCCTTAATTTAGAAACTGTGCCAGGTGGCCCTCGGAATAGATGCCAGGCAGAGACCAGTGCCTGGGTGGTGCCTCCTCTTGTCTGCCCTCATGAAGAAGCTTCCCTCACGTGATGTAGTGCCCTCGTAGGTGTCATGTGGAGTAGTGGGAACAGGCAGTACTGTTGAGAGGAGAGCAGTGTGAGAGTTTTTCTGTAGAAGCAGAACTGTCAGCTTGTGCCTTGAGGCTTCCAGAACGTGTCAGATGGAGAAGTCCAAGTTTCCATGCTTCAGGCAACTTAGCTGTGTACAGAAGCAATCCAGTGTGGTAATAAAAAGCAAGGATTGCCTGTATAATTTATTATAAAATAAAAGGGATTTTAACAACCAACAATTCCCAACACCTCAAAAGCTTGTTGCATTTTTTGGTATTTGAGGTTTTTATCTGAAGGTTAAAGGGCAAGTGTTTGGTATAGAAGAGCAGTATGTGTTAAGAAAAGAAAAATATTGGTTCACGTAGAGTGCAAATTAGAACTAGAAAGTTTTATACGATTATCATTTTGAGATGTGTTAAAGTAGGTTTTCACTGTAAAATGTATTAGTGTTTCTGCATTGCCATAGGGCCTGGTTAAAACTTTCTCTTAGGTTTCAGGAAGACTGTCACATACAGTAAGCTTTTTTCCTTCTGACTTATAATAGAAAATGTTTTGAAAGTAAAAAAAAAAAATCTAATTTGGAAATTTGACTTGTTAGTTTCTGTGTTTGAAATCATGGTTCTAGAAATGTAGAAATTGTGTATATCAGATACTCATCTAGGCTGTGTGAACCAGCCCAAGATGACCAACATCCCCACACCTCTACATCTCTGTCCCCTGTATCTCTTCCTTTCTACCACTAAAGTGTTCCCTGCTACCATCCTGGCTTGTCCACATGGTGCTCTCCATCTTCCTCCACATCATGGACCACAGGTGTGCCTGTCTAGGCCTGGCCACCACTCCCAACTTGACCTAGCCACATTCATCTAGAGATGGTTCCTGATGCTGGGCACAGACTGTGCTCATGGCACCCATTAGAAATGCCTCTAGCATCTTTGTATGCATCTTGATTTTTAAACCAAGTCATTGTACAGAGCATTCAGTTTTGGCTGTGGTACCAAGAGAAAAACTAATCAAGAATATAAACCACATTCCAGGCTGCTGTTTTCTCTCCATCTACAGGCCACACTTTTACTGTATTTCTTCATACTTGAAATTCATTCTGCTATTTTCATATCAGGGTACAGACTTATAAGGGTGCATGTTCCTTAAAGGTGCATAATTATTCTTATTCCGTTTGCTTATATTGCTACAGAATGCTCTGTTTTGGTGCTTTGAGTTCTGCAGACCCAAGAAGCAGTGTGGAAATTCACTGCCTGGGACACAGTCTTATAAGAATGTTGGCAGGTGACTTTGTATCAGATGTTGCTTCTCTTTTCTCTGTACACAGATTGAGAGTTACCACAGTGGCCTGTCGGGTCCACCCTGTGGGTGCAGCACAGCTCTCTGAAAGCAAGAACCTTCCTACCTATTCTAACGTTTTTGCCCTCTAAGAAAAATGGCCTCAGGTATGGTATAGACATAGCAAGAGGGGAAGGGCTGTCTCACTCTAGCAACCATCCCTCCATTACACACAGAAAGCCCTCTTGAAGCAAAAGAAGAAGAAAGAAAGAAAGCTTATCTCTAAGGCTACTGTCTTCAGAATGCTCTGAGCTGAATGCTCTTGCTCCTTTCCCAAGAGGCAGATGAAAATATAGCCAGTTTATCTATACCCTTCCTATCTGAGGAGGAGAATAGAAAAGTAGGGTAAATATGTAACGTAAAATATGTCATTCAAGGACCACCAAAACTTTAAGTACCCTATCATTAAAAATCTGGTTTTAAAAGTAGCTCAAGTAAGGGATGCTTTGTGACCCAGGGTTTCTGAAGTCAGATAGCCATTCTTACCTGCCCCTTACTCTGACTTATTGGGAAAGGGAGAACTGCAGTGGTGTTTCTGTTGCAGTGGCAAAGGTAACATGTCAGAAAATTCAGAGGGTTGCATACCAATAATCCTTTGGAAACTGGATGTCTTACTGGGTGCTAGAATGAAAATGTAGGTATTTATTGTCAGATGATGAAGTTCATTGTTTTTTTCAAAATTGGTGTTGAAATATCACTGTCCAATGTGTTCACTTATGTGAAAGCTAAATTGAATGAGGCAAAAAGAGCAAATAGTTTGTATATTTGTAATACCTTTTGTATTTCTTACAATAAAAATATTGGTAGCAAATAAAAATAATAAAAACAATAACTTTAAACTGCTTTCTGGAGATGAATTACTCTCCTGGCTATTTTCTTTTTTACTTTAATGTAAAATGAGTATAACTGTAGTGAGTAAAATTCATTAAATTCCAAGTTTTAGCAGAA)$ . 09CO018 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 8 15 0 43 28 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) AGAAGGAgTTTGCTGCTgTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 09CO018 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 12 11 0 98 129 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(4),mismatches(1) AGATTCTCCTAGCACCCCTGTAACTCAGGAAATTACAAGGGTGTTGGGAGCTCTAGGCCAGAGACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAtGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGG(AAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 09CO018 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 8 0 27 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),low_entropy(2),mismatches(2) ACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO018 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 10 11 0 30 29 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2),mismappers(1) TGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAG(GAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 09CO018 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 8 11 0 23 38 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) CCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCA(TGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 09CO018 ENSG00000076201.15 ENSG00000181045.15 +/+ +/- chr3:47381180 chr17:80252404 CDS/splice-site intron translocation/5'-5' 2 6 0 7 14 high out-of-frame . BRO1-like_domain(100%)| . . ENSG00000076201.15 ENSG00000181045.15 ENST00000265562.5 . downstream downstream . ^(GGGGCTGGGCTCGTGGCTGAGCCAGCAGCTGCAGCAGCTACGGGAGTGGC)CGGGTGGCCGGCGGGTGCCAGCCGCCATGGAGGCCGTGCCCCGCATGCCCATGATCTGGCTGGACCTGAAGGAGGCCGGTGACTTTCACTTCCAGCCAGCTGTGAAGAAG|GGTACCCTCCCATCCCACGGCCAGGCCACATTCTGCTTATCCACCTCCAGTGCACTGCATCTGAGCTGATTCTACAACAACATGGGTGAATCTCCCTGACGTCACATTGAGCCAAGGAAGTCAGTACAACATCCGCCACCCCTCACTCTCACGGAGCTG...AGAGGCCTAGCACTGGGGCCTGGGACCCTCTGGCCACTGCTGTGTGGCCTGGGGTGGATGCTCTGCATCTCTGGCCCATCCTCTTGTTGACACCTGCTGCGGCTCAGACCTCCTGCGATTGCTGTCTCAAGGGTCAGCGCCCACCCTGCT MEAVPRMPMIWLDLKEAGDFHFQPAVKK|gtlpshgqatfclstssalhls* 09CO018 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 16 2 0 1281 21 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream mismatches(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCG)GTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGtGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 09CO018 ENSG00000160973.8(2673),ENSG00000160972.9(11508) ENSG00000160972.9 ./+ +/+ chr8:144478522 chr8:144490034 intergenic 5'UTR deletion/read-through 8 7 0 32 64 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(1),mismatches(1) GGGCGCCCAGGGCACAGGTCCCGCCGGGCCGCCTTGGGCGTTGCTGGCTGAGGCCCAGGGCAGCAGGTGCCAACGGTCAGGAAAGGCAGGGAGCCGAAGGCTGCCGGTGGGCGCTTCGCGTTTTGTTCCAAGGCGAAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAG?GGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAG(TCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 09CO018 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 6 0 309 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGA)GGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO018 ENSG00000266965.1(29885),ENSG00000141429.13(27076) ENSG00000141429.13 ./+ +/+ chr18:35627484 chr18:35654560 intergenic 5'UTR deletion/read-through 1 12 0 14 44 medium . . |Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%) . . . ENSG00000141429.13 . ENST00000269195.5 downstream upstream . CCGCGCGCCTAGCGAG___GAGATGTGGGACATGTGGATTTGGGATATGAATTCATTTGAAAAACCACTTTGG|GGTATGAACGTGATTTCTGATGAAACTGGATTGGAATAATTTTCATGATCTTTGTATATTTATATATATATATTTTTAAATTTTGCATTTGACTTAAAGTGCCATGAGAAAATTTGCATACTGCAAGGTGGTCCTAGCCACCTCCTTGATTTGGGTACTCTTGGATATGTTCCTGCTGCTTTACTTCAGTGAATGCAACAAATGTGATGAAAAAAAGGAGAGAGGAC(TTCCTGCTGGAGATG___TTCTAGAGCCAGTACAAAAGCCTCATGAAGGTCCTGGAGAAATGGGGAAACCAGTCGTCATTCCTAAAGAGGATCAAGAAAAGATGAAAGAGATGTTTAAAATCAATCAGTTCAATTTAATGGCAAGTGAGATGATTGCACTCAACAGATCTTTACCAGATGTTAGGTTAGAAGG___GTGTAAAACAAAGGTGTATCCAGATAATCTTCCTACAACAAGTGTGGTGATTGTTTTCCACAATGAGGCTTGGAGCACACTTCTGCGAACTGTCCATAGTGTCATTAATCGCTCACCAAGACACATGATAGAAGAAATTGTTCTAGTAGATGATGCCAGTGAAAGAG___ACTTTTTGAAAAGGCCTTTAGAGAGTTATGTGAAAAAACTAAAAGTACCAGTTCATGTAATTCGAATGGAACAACGTTCTGGATTGATCAGAGCTAGATTAAAAGGAGCTGCTGTGTCTAAAGGCCAAGTGATCACCTTCCTGGATGCCCATTGTGAGTGTACAGTGGGATGGCTGGAGCCTCTCTTGGCCAGGATCAAACATGACAG___GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG___GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG___ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG___GTGTTACAAAGGTAGATTATGGAGATATATCGTCAAGAGTTGGTCTAAGACACAAACTACAATGCAAACCTTTTTCCTGGTACCTAGAGAATATATATCCTGATTCTCAAATTCCACGTCACTATTTCTCATTGGGAGAG___ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG___GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG___AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACTGAGACAATGAAAAAAAATCAACAAAATATGCTTTCTGGAGAACTGTACCTTTTATGGTTTGCTTGCACATCAGTAGTTTCTGCTGAACGTGCTGTCATAATGAAGAGATTTCCAAGATTTTTTTTCCTGATTAGAACTGGTAGCCAGTATATTAAATATTGATATAAAAATAAAAGAACTGGAACCAGATTCAGAATCATGAAAACAACATTTTTACAACAACAAAAAAACTATATTAAACAGGGTTTAAAGGAAATTAAAACAGAACTATGAGAAGTACAATTTGTTATAGTATAGTATCAAATTTCTATATAGATTTTATACCTCAGTGGGGAAAAATAACTGATTCCAATGACATTCATTTTGTTTTCATCTGTGATAGTCATGGATGCTTTTATTTTCCTTGGGGTGCTGAAATTGAGCTGAAAAAAAAAGGCTCTTTGAATATAGTTTTAATTTCTCTCTACAGTTTTTTTTGTTTGGTTTGTGGGCTGTTGGAATTGTAATTTTTAATTGCCTTCTAAAAAATGGAAATTTAACAATGTCTGATCTCAGCTGAACAAATTAGATGTTTCAGTTGCTCTTGGGTCAACTGGCTTACAGATTTACATGTGCACACACACACAAATTTCTTATCACATTTTCGACTTCTTCACTTGACCTAACTGATTATGCGAAATACCCAAGATTCATGCTACTGTACCACAGATTTGTTTTCACAGCAATAAATCTTCAGTTCTTTGTTTATGATTCCACTTAACAAAAGGCCTGCAGAAGTGATTTATTATTTGGGTATTTGGAGATAATACATTTGATGGTTTTTTGGAAAACCTTTTTCACTCCATACTCAGATATGCTTCATTGTCAAATGCATATTTAGATTAGATTATTGAATTGTAATGTTTATCTGCTGCTTTTTTTAAATAAAATTTGACTGAAAATGTTTAATTGGCATTTTTTAATGACTTAGCCAAAGAAGTGCAGCTATTATTCCATATTAATAGGCTTGCATTTCTTTTCCTAAATCTTATTTAGGCTAAATCAGTTTTATTTTTCTCTGATTTTTTTTAATACCACAGAATCACCTGAGTGTCAATTGAAAGTTGTCAATTAAAAGGTAACCTTTTAATCTCGTAGGAGGAATCTCATTAAGACATTTTTCCTGATATGTAGAGCAGTCTGTTGGCAAAAATGCATATATTTTCTTTCATATTTGTAAAATTATATTTAATGGAATTCTTTTCTTTGATTATCAAGGACTTTCACTGCAGGCAGTGCTATTTCTTGTGCCTAAGAATGTTTCCAAAAGTCGCATCGCTAATGATATTTGCCAAGTTGAGTGTACACAAAGTTTCTCATATCCTGTTCAAGTTAATCAACATCAAGCACATGGGGATGCTTTAGGGTGAGTCTATAGTACAAAATGCATAAACCATGTCCCCAGGAAATTTGAAAGGAAGCAGGTGCTGAATGGAATTTTTTTCCTTTTCCATGAGCTGTGTTAATTCTATCTCCAGTAGGCCTAATGCTTGAATAAGCAAGATGTCTAATCAATAAATTATTTTCATGCTCAGAATTTCAGGTTTTTGTACTCCAGCATAGCTTGGTCTTATTTCTTACTGTATGAAAGCTTAACAGCAATGTGATTTAAGGTTTTGTTTTAAATGGGAGATGTAAGTGATTTAATTCATGGGTACTTTTAGAACCTGATAGATAATCCCATTGCCTTTATTTTTCTAATTAAAGAATTCCTAAATACTTTGAAAATACAAAATATTCCTGAATA)$ . 09CO018 ENSG00000130669.17 ENSG00000234229.8 +/+ +/+ chr19:39125919 chr9:106499487 5'UTR/splice-site exon/splice-site translocation 0 4 0 11 5 medium . . . . . ENSG00000130669.17 ENSG00000234323.7 ENST00000321944.8 ENST00000435485.5 downstream upstream . ^(GGGATTCAACATGGCGGCG)GGAGTGTCCGCGGTGGTGGCGGTGCAAGAGAGCTGAGGGAGGCGCGAGGGCGCGGAGTTCCAGGTCGAGCAGTTAGGCCGCGAGCGACTGCGGCGCCGAGCCG|GTCTGATTATAAAAGGAGAATTGGAGGCTTACCAAACATCTGAAGAGCTTTCCAGAAGTTTGGTCACTTCTGAATTAGAGAAGTTAAAACCCAATCACCTACTAATGCTGTGGGAAAGTTCTGCAG___GTGATACATCACAG(GGGCTCATGAATGTGTCTTAAGCTGGGTCATTGAAGTGGAATGTTTTCACAAGACCTCCTCCACTTGCTACTGTGTCCGGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCCGCGGACCCTCGCG___GGAGTGGCAAATCAAAGGCATTGCAGCCTCTTTCATCACTGCCGATTGCTGATGCCAACCATGTGCCAAGTGCTTAATACGTCACCTTAAATCTTCTCATCCACCCTCAGAG___TAGCTGCAGCATCAACCCAGTGCCCTGACTTTCAAGACGACTATGAAAACACCCCAACTGCTGCTAAATTACCAGCAACAAGGATCTG___ACATTCTTATTCAAAAGAAAGAACACCGAAATTGACCTTACCCTGACAATATGATGGCTGAAGGATTTATGATCACTTATAACATTTGAAATTGAGGCGGAACCTGAAGAATAAGACTCTGGTGAAAGGTCCTATTTATGCTTTTGATGTCTTTCACTTGGACATTTACCACATGCCTATTGGTAGGTTTGTTACATAGGTCAGTTAAGGTGATACAAGAATAAATAAAACACTATCCCTATCCTTTAATATCATTTATTTATGGGGTCAATCACAGATTTTCATTTTTCAAAATCTTTGATAAATGTCAGAATTATGTTTTTTAATATTTTTACAGAATTATTACAATATATGGTAGAGGATGGAAGGCAAGGTAGTATGAAACGGAAAAGATATTTTGAATTAAGGTATTTGGACCTGGATTAATATTTTTGCTTTGGTCTTTATTAGCTGAGTGACCTTGAGAAAGTTCTTCTACTAAAAAAGAACAAAGATAATAATTACTTCATGAAATTGCTGTAAAAAACACATAACAAGTATATCCAGACTCAACAGTGTATGCTCAAAAATGCAGATCCTTTTTCCCTTACCTGCAAATAAAGTCTTACAGTAATACAGTGGGGGTAAAGGTTTAAACTGGTGGATTCAAGAAGGGCTATAGAAAGAGGTAGCATCTTAATAGGGGAAGGAGAGGATCCAAGAAATCAGATCCATTTTCTACAAAAAGAAATGGGAAGACAGATAATTCAAGAAGAAAAGTTTACATGATTAAAGACCCGAAGTTAGAAATAGTGATGTGTCTCAATAGTAAGTTAGGAATTGGGGTGGACACAATTGTTGGAAGAAGGATGGTTTCAGCAAAGGCCCAAGTTAGGTGACAATTTCAAGTGTTTGTGAAGATATATGAACAAAATTATAAAGTAGTTAGGGTATAAGAAATAGGGAGGAGGGAATGAATTAACATTTATGGAGTGTCTTGCATGTTCCAAGCACTGTACTACTTGCCTTATAAACCTTTCTTCAATAAACGCCTACAACAA)$ . 09CO018 ENSG00000130669.17 ENSG00000234229.8 +/+ +/+ chr19:39125919 chr9:106558472 5'UTR/splice-site exon/splice-site translocation 0 3 0 11 14 medium . . . . . ENSG00000130669.17 ENSG00000234323.7 ENST00000599386.5 ENST00000637185.1 downstream upstream . ^(GGCGGTGCAAGAG)AGCTGAGGGAGGCGCGAGGGCGCGGAGTTCCAGGTCGAGCAGTTAGGCCGCGAGCGACTGCGGCGCCGAGCCG|GGAGTGGCAAATCAAAGGCATTGCAGCCTCTTTCATCACTGCCGATTGCTGATGCCAACCATGTGCCAAGTGCTTAATACGTCACCTTAAATCTTCTCATCCACCCTCAGAG___CTGCAGCATCAACCCAGTGCCCTGACTTTCAAG(ACGACTATGAAAACACCCCAACTGCTGCTAAATTACCAGCAACAAGGATCTG___ATGGCCGGTTTGACACAAATTAGAACAACCTTGATAGCTGTCAACTGGAGACTATCTGAGAACAAAAGGACATTATTGCAAACCAGCACTGGAG___TTTGCAGCATCACAGAAAATGATGCTCTCTCCTGCCAAGTCCCATTTTTTGGGAGGAGGAAATGGATTAGGTCCTGGAGGTTGTCATAAATGCATCAAGTGACTTTCTCAGCATCATCTGAAACA___TGCAGCCATCCAGCCCAGAACACAACAAGAATAGAGTTGATGAGCCCTCTTCTCCTCAACAAACACCTGTG___AAAAATGGGCCAATTCACAGCTGCAATGGTTGGGAGAATTTCCTGTCTGGGAGTCTGGAAACTGCCAAGAGTGGAAAGCTGCAGCCAGCCAGCGAGGCCTCTGTTGTCACTGGCCCAAACAACAACAAAAACAACCGCAACAACAACAACAACAACAAAACATGCCACGTGTGCACTGGCATATACAAACACGCCCACAGAACCAAACCAAGCGGACAAGGCTTCAAGGAGAGCTTCTGGGCGGCTCATTCCCGCGGCGAGGCATATCCCTTGGCATGGTGCCACTGCAGCCCAGCTCCCAGCCCCCCCGCCATCTGTCATCAGCGCTCTGCCTACT___GTGGCATTTCCCTCTTTGCTCGGCACCTCTCCCTATTGCCGCCATATGAAAAAGGAGGTGTTTGCTTCCCCTTCCACCATGATTGTAAGTTTCCTGAGGCCTCCCGAGCCATGCTGAACTGTGAGTTAATAAAACCTCTTTCCTTTATAAATTA)$ . 09CO018 ENSG00000162779.22 ENSG00000176209.11(35726),ENSG00000147432.7(106447) +/+ ./+ chr1:179534962 chr8:42590919 CDS/splice-site intergenic translocation 2 0 0 82 5 medium out-of-frame . . . . ENSG00000162779.22 . ENST00000367618.8 . downstream upstream duplicates(1) ^(CAAAGGAGGAAGTGAGCGGATGCTGGGCGG___GACTATGTGGCAGCCTGCAAGTCCCAGTGCGGCGCTGATTTGTGTCTAAATTAGCTTTCCGGAGGACTATTTCAAATTACTAAAGAGATAGGAGGCATTGTTTATTATGTCTCTCCCGAAAACGCCCTCCACCCCGCTAAACTCTACATCAACATCTGAGAGCAAAAAGTTAAAAGTGTCTGTAGCCAAGGAAGGGACAAGAG___GACTTCCTGAGCTAAAGGAGAAAAAAAATATGGTGGATCGTTCAAAACTCCTTCCTACTTCCCTTCAGAATGAGTTCATTCCCAAAGAAGTTCTTCTTTCTCTGACCTATGCGGCCAATGCTGGTCCTTGTCCTGAAAACTTACTACCTCCTAAGAAAATTAAAACCCCAAAG___GGCACTCTTCCACGCCTTGTAGACCATGTCTGGCATCACCCTGTTCGAAGGAATAAATTCAAATACCTGATTGACCATCCCGTCTCCCTCACAGGAGCTGGAAG___GGATATTTCTTTTCTGTACGATGTAACATATGCCAAAGGACAGACTAGGGAGAAGGCAGTTTGTCCCCCACATTTGGCCCGTTCATTACAGTCACATGATGGTGTCATTGTGCCCCATAAG___CCAAAGACACTAACAGATACTTTGATTCCTGAAGAATTTCATATTGTGTCAAGTACAGGAGTTTCAGGTTTGGAGTGTTATGATGA___CAAATACACTACTCTCCTCACAGATAGTGAAAACAGGCTATTGCTCTTCCCATCCAT___GAAACCTAATAAAAGAGTAGAAGTGGCCCAGCTGAATGATGTGATGGATACTATGCTAGAGAGGGCTGGTGTGGAAAATCAGGAATATACAGGACCAACGAAG___ATGCACAAACTACTACATATATTGAAGAAGGAACAGACCATTTACAACATGATATTTCATGAACTTATTCGACAAGTCAGTGTGGACTGTGCAGACAGAGGAGAACTTCTGTCTAAAGTCAG___AGAGAGGTATGTGCAAATGCTTGACCAGATTGCTCGGCAGATGATTGATTTCTACAAAGACTTGGTAACTCAGCGAGTGATGGACCAGCGCATTTTAGAAGAATTGTATAATTTCAAGCATGTTATTGAAGAACTGACCAG___GGAACTGTGTCTAGTTCGGGCACATGATGTGAAATTAACAAAGGAAACAGAAAAAGCCCACAAGGATTTGGCACAAGCTCTTTTAAATGCGGAAAAGAATGCCAA___AATAGTAGAAGAATATCATGACTTATATACATTACAAAGAGAAAGGATGGAGAATGATATGAAAAAGTTAGTGGCAGAAAGAGATATCTGGAGCTCAGCCACATATGAATTGGCCCTGAAG___GTGATTGAAAGAAATAGAGTCATATTGGCTAGAAGACTTTACCTTAATGAAAAAGGCTGGAATAAATACACTAAGCATTTCATCATACTGCTATCAAACAAG___GACACTGAAGACCTTGCACTGTTGCAGAAGTTGACACAAAAATGGAGAAACTTAGTGAATAAACTTAAACAAGAGGTAGAACAAATGGAAGAGTCTACAAGCGAGACACTGAAAATTGTTAAGGATGGGCTTATCAAATGGCAGGAGTTCTTCAA___TGAAAAAGACATTTTATCCCCTAATAAGGGAAATATATTTAATTCAGTTCTTTTAGACTTCAAACAGTGGCAGAAG___ATCCTGAATGAGAAAAAAGAAGAGTTTACTGGGGATGTTCTACTGTCAAAATACGATACTCTCAAGATTATTAAACATTTACAGGAAAACTGGGCAGATATTGGGCTTGGGATATTTAATCGGCATAAAAGTTTGGAGGGGGAGATGCCATCAGAGCGACAGTACATGGAGGAAATTATCAAAAACATACAAAAACTCTACAAAGAATATGAAATAAGAATAAATGGGGACAATG___GTTACTCCAAAATTCTTCCAAGTTTGATTAGTTCTCTTGACTTCTGTTCTTTCAAGTTGGAAAACCTGGAGTTTCCTGATACGCCTCTTGAAGAATGGCAGGAAATAGATGAAAAAATTAATGAAATGAAATCACACTTGGATATATTGTTAAACCTTACTGGTATTGTTCCACAGCACATAGATGTGGATTCTGTTTC___GGTACTCCAAGCGTATATATTTAACATGATTCAACAATGGCTTTTGAAGATAGGCAATGAAATTAACAACGGTAACATTGAACTTCAGCACCAC___ATGGATGAGTTACATATATCTATGATCCAGTGGATGGTAAACTTGCTGATTTTAATGATACCCAACTTTACTGACCAAGACTGTCTCCTAAAGTTGGAGGAGGAAAGTGCTGAGAAACATGATATAGGAGTTGCGCGATTGGAGCTAGATGCGATTGAACTGACAAGGAAGTTGTACCAATACTCCAGCTATTTGAGCAG___TTGTTGCAAAGGGATGGTAACAGCAATGGCTCTGAGTAAATCCACTAACTCACACAAAAATGCTACTGAAGACCTTTATGAGGTGGATAAGTTGAAG___AAAGAATGTTATGAATGGATCAACACATGCTCTTGCCTCCTTTCTAATATCAAAGGCAGAAAAATTACATTATTGACATATGAAGAAATAGAGCGGCTACTTGAAGAG___GAGGCTGTAAAAGAATTCATTGAGCCTGAAATAGACGAGTCTTTTAAAGAAGATGAAGAAGAAAGTAAGGAGGATAGGAAACTTCAGGAGGAAAATAAAGAGAGAGCAGAAGAA___CAACCTTCAACATCTACAGAGAAGGAAAAACTCATTCGATTCATTGGAGAAGATGAAAATGTTCATTCCAAACCTCTATTTGAAACAGATGTGTTGTCTTCCTGG___AGAGAGTCAGCTAAGCAAGGTACATTGGCCCAAAAATATCTTGAAGCAATGGCTGTAATTGAACATATGCAGGAGAAGTTACT___GGAGGTTGAAAATAGAGCCAGACAGGCAGAGGAGAAGTTTGAAGATGCATAT)GAGAAACTTCATCATACCCTTATAAAAAATAAAGATCTAGAGGAATTAGTCATGACATCAAGAAAGGAGTCTAAAGAAGAGAAAGAAAATCAAGATGAAAGAGAAGTAAAAGAAGAAGAAGAACAACAAGAAGAAGAAGAAGTCAGGTCAGCAGAAAATTCCTCAAAATCTCCAAAGAAAG|GTAACATTAACATTATCTACTCGGAAGTTGGACTCAACTATACAGCTACCTGCT MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIPKEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHVWHHPVRRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGVIVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLLTDSENRLLLFPSMKPNKRVEVAQLNDVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIARQMIDFYKDLVTQRVMDQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEYHDLYTLQRERMENDMKKLVAERDIWSSATYELALKVIERNRVILARRLYLNEKGWNKYTKHFIILLSNKDTEDLALLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDILSPNKGNIFNSVLLDFKQWQKILNEKKEEFTGDVLLSKYDTLKIIKHLQENWADIGLGIFNRHKSLEGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNGYSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHIDVDSVSVLQAYIFNMIQQWLLKIGNEINNGNIELQHHMDELHISMIQWMVNLLILMIPNFTDQDCLLKLEEESAEKHDIGVARLELDAIELTRKLYQYSSYLSSCCKGMVTAMALSKSTNSHKNATEDLYEVDKLKKECYEWINTCSCLLSNIKGRKITLLTYEEIERLLEEEAVKEFIEPEIDESFKEDEEESKEDRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETDVLSSWRESAKQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESKEEKENQDEREVKEEEEQQEEEEVRSAENSSKSPKK|gniniiysevglnytatc 09CO018 ENSG00000128694.12 ENSG00000182149.21 -/- +/+ chr2:189748006 chr16:71923288 intron CDS/splice-site translocation 2 0 0 8 190 medium stop-codon . Glycoprotease_family(100%)| . . ENSG00000128694.12 ENSG00000182149.21 ENST00000519810.5 ENST00000544564.5 upstream upstream . ^(CTTTGGTAACCCTGCTAGGGGGCGCCGCTAGATTCCATCCTATTTCTCCGATGAAAGTATCAG___AACTCTCATCACCTGCAAATCTGGGGGAAATGCAGGTGCGCACAGAGAGCGTTTTGGGCAAAGACGGCCTTTAAGCTTTTCTTCACTAAGCATGCCGCTCGCTAGCGGAACAGCAGCCAGCTCTGGACGGGACCTTGCACAGTTCCGATGACATCACTTCCGGGCGCCAGGTTCGGGCTTTCTCCTGCAGCGATAAGGGCAGTCGACAGTCTTTAGTAGGGAAAGGAGACAAGTGCTAGCTACTGCCGCCCAAGTGGAAG___GAATTATCTATAGAGTAAGTATGCTAATCTTGACTAAGACTGCAGGAGTTTTTTTTAAACCATCAAAAAGGAAAGTTTATGAATTTTTAAGAAGTTTTAATTTTCATCCTGGAACACTATTTCTTCATAAAATAGTATTGGGAATTGAAACTAGTTGTGATGATACAGCAGCTGCTGTGGTGGATGAAACTGGAAATGTGTTGGGAGAAGCAATACATTCCCAAACTGAAGTTCATTTAAA___AACAGGTGGGATTGTTCCTCCAGCAGCTCAACAGCTTCACAGAGAAAATATTCAACGAATAGTACAAGAAGCTCTTTCTGCCAGTGGAGTCTCTCCAAGTGACCTCTCAGCAATTGCAACTACCATAAAACCAGGACTTGCTTTAAGCCTGGGAGTGGGCTTATCATTTAGCTTACAGCTGGTAGGACAGTTAAAAAAGCCATTCATTCCCATTCATCATATGGAGGCTCATGCACTTACTATTAGGTTGACCAATAAAGTAGAATTTCCTTTTTTAGTTCTTTTGATTTCTGGAGGTCACTGTCTGTTGGCATTAGTTCAAGGAGTTTCAGATTTTCTGCTTCTTGGAAAGTCTTTGGACATAGCACCAGGTGACATGCTTGACAAG___GTGGCAAGAAGACTTTCTTTAATAAAACATCCAGAGTGCTCCACCATGAGTGGTGGGAAAGCCATAGAACATTTGGCCAAACAAGGAAATAGATTTCATTTTGACATCAAACCTCCCTTGCATCATGCTAAAAATTGTGATTTTTCTTTTACTGGACTTCAACACGTTACTGATAAAATAATAATGAAAAAGGAAAAAGAGGAAG___GTATTGAGAAGGGGCAAATCCTGTCTTCAGCAGCAGACATTGCTGCCACAGTACAGCACACAATGGCATGTCATCTTGTGAAAAGAACACATCGGGCTATTCTGTTTTGTAAGCAGAGAGACTTGTTACCTCAAAATAATGCAGTACTG___GTTGCATCTGGTGGTGTCGCAAGTAACTTCTATATCCGCAGAGCTCTGGAAATTTTAACAAATGCAACACAGTGCACTTTGTTGTGTCCTCCTCCCAGACTATGCACTGATAATGGCATTATGATTGCATG___ATGTCCTCTTGGAGTAGACATAT)CAAAAGAAGTTGGAGAAGCTTCCATAAAAGTACCACAATTAAAAATGGAGATATGATTTCTGCTGTTCAAAAAAGTCCCTAAAG___CCCAGGTAGAGAATGGATTATAGCAAGACCCTCAGACTGTATGGAGGCAATTCAGCAAGTGGATGGAGAAAAGGGG|TCAGATTTCAATGGACTGCCAATGGGGACTTATCAGGCCTTTCCCAATATTCATCCACCTCAGATACCAGCAACTCCCCCATCGTATGAATCT___GTAGAT(GACATTAATGCTGATAAGAATATCTCTTCTGCACAGATTGTTG___GTCCTGGACCCAAGCCAGAAGCCTCTGCAAAGCTTCCTTCCAGACCTGCAGATAACTATGACAACTTTGTCCTACCAGAGTTGCCATCTGTGCCAGACACACTACCAACTGCATCTGCTGGTGCCAGCACCTCAGCATCTGAAGACATTGACTTTGATGATCTTTCCCGGAGGTTTGAAGAGCTGAAAAAGAAAACATAGGTCTCTTAAACCAGGCAACTTTCACGTTTTGGGAGTTGAGACTGAGCAATTTCTCCTTGTAACAAAGAATCTCCATG)$ . 09CO019 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 25 21 1 52 63 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) ACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGC(CTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO019 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 10 0 298 65 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),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGA)AGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO019 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 12 10 0 151 41 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(3),mismatches(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACC)ATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATgCAAAATTgGCCAGGCG MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 09CO019 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 7 0 33 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(3) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCT)CAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09CO019 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 6 0 19 21 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) CTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAG(AGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO019 ENSG00000012232.9 ENSG00000253452.6 +/+ +/+ chr8:28731594 chr8:35997234 intron exon deletion 1 2 0 2 3 medium . . Exostosin_family(100%),Glycosyl_transferase_family_64_domain(100%)| . . ENSG00000012232.9 ENSG00000253452.6 . ENST00000654426.1 downstream upstream . CGTGGCTGGATGCAGGCTCGTAGATGGCGTTGGAGGAGTCCATCTCTCcTCATCTGTAGGCTCCGCTCTGTGTTCCCACAGGCCTTTCCTCTGTGGCCAGGAAGGTGGAATTCTTT|CTTTACTTTTCTTTCTGCTTTTCTCAGGCAGAGGAAGTTTTGCCCTGTAGCTACCATAGCTGGTAATGTGCTGAGTCTCAACCTGAAACCAGCAAGCCTCAGAGGCTTGCCCAAGTCCCT(CGATGCAGTACCTGGGTATTGCTGCTTGTTATTCAGGGCCCAAGGGCTGTTAAGTTCACAAGTGATGAATGCTGCCAGTACTGAGTTCTTTCTTTCAAGACAGCAGGTTCTTTTCTGACCCAAGGTGTGTCTAGAAATGTCGTCTGGAGACTGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGTGGATCATGAGGTCAAGAGATTGAGAACATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCTTGCGCCTATAGTCCCAGATACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGAAGTGAGCCGAAGTCATGCCACTGCTCTCCAGCCTGGCGACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATGTCTTCTGGAAGCTAGGGCCAGAAAAAGGGGCCTCATGACGGTGATTGGTGCTCTATTGTGCTGTGGCTGAACTGGTATTCTAGATCCAAGATGAAGTCCTCCCCACTCTTCCCTCTTCTTTCCTCCAGCAAATGGAAGGAGTCTCTTTTGGAGCTGTGAGCTGTGCAGCCTGGGGTTAGGGGAGGAGTGATGCCAGCACTCTTTTGGCTGCCCCAGTTAGTATCGCAATATGTCACATGCCCTCCAGCCCACTGTCTCTGGACCTAGTTTAGCATGAGGGCTCACATAAGAGTTGCAGTATTTATGGCCTAGACTGCCTTTCAAGTTTATTTGGAGACATAGAGGGCTGTAGCCCTTGGTGGAGAGGTTTTCAGGCACTCAAGTTTGGACCTCTGGGATCAGCACTTCCCCTCTGGCTAGGGCTGGTTTCCAAGCTCTCTCTTTGGGTGGGTGTCAGCTGAGTTTGGTCCAGTTTTCCTTTCTGCTCTAAAAGGACAGCACTGAGTTCGGTGTCTCACAATTGCTGTGATCTCCCTTCCTCTGTGCCCAGAGATGCTCTCTGCACCAGATTGCTACTGCCGTGGGTCAGGGAGAGTGGCACTGGCGATTTAAGGCAGCTGTTTTTTTCTGTTTCTTCAGTACTTCCTTCAGGGATAAGAAGTTAAAACCAGGAACTCACCTGATTTTTGGTTCTTATGAAGGTGGGTTTTTTTTTTTTTCGGTGTAGATACTTATTAACTTGGTGTCCTTGCAGAGTATGGGACAATCAGTGGAGTTTTTATTTCATATAGTTCAACCTAAGAGCATAGCTATCTGAAATATTTCTTCCCTGCTACTACTCTTGGAACACATTTCTCCTTGTACCCAATCTTTTGGCTAGTGTGGTCCAAAAAAAGGAAATACATTTACATGGTTATATGTTATATTACTATTCCAGAAACACAGTTTCTTTAGTGTCATGTTTATTTTTGTAACCAGTAAGGAACAGCGCATCTTTCATTACTATAAATAGAAAATCTTATCTGTGTTACTCTGTTCCTTAATATCAATGTGAAATACTAAGGGTAGTTCTAATGTATTTTCTAGGGGAAACTTCAGCATTTTTAGGCTAGGCTATTCTAAAAAAAAAAAAAATCAGATGCAAAGAAAAGCACTCGAAGTATCTTGAGAGGCTGAATAATAACCCTCTAAAAAGGTCCAGGTTCTAATCTTCAGAACCTGTGAACATGGCACTTTACATGGCAATGAGGACTTTGCAGATGTGATTAAGGACCTTATTGGGGTTTTAATTTGCATTTCTCAAGTTTTCTTTGGGTATATACCCAGTAATAGAATTGCTGGGTTGATAGTTCTTATTTAAATTCTTTGAGAAATCTCCAGACTGCTTTCCACAATGGCTGAACTAATTTGCATTCCCACCAGCAGTGTGTAAGTGTTCCCTTTTCTCCACAACCTTGTCAGCATCTGTTATTTTTTGACTTTTTAATAAATAACAATCTATGTGCACACACACATGTATATGCTATTCTTGATTGTACATTTGTCTGTTATATACATTGTAAAT)$ . 09CO019 ENSG00000141446.11 ENSG00000170558.9 -/- -/+ chr18:21584310 chr18:28019501 5'UTR/splice-site intron inversion/5'-5' 0 2 0 15 5 medium . . . . . ENSG00000141446.11 ENSG00000170558.9 ENST00000269214.10 . upstream upstream . ^(AGAAGCAGCTGAGTGTCTCCTGATACCCGGATGTGAGGCGATCCGCTGGCGCTAGTCTGACCCTCCGCCAGGCAAAAGGAAG___ATTGTCTTTGGCTATAGAGTTTTTTTTTTTAAAGATTACTAAACATACAGGAAGTGATAAGAAGTATCATTCATCAGAAGCATCATTCATCAATCAA)CTTGAAGAAAAAGGTGATATATTATTTCTTTAAG|GTGTCACAGTGCTTGAGGGAGGAAAGAAGGAGGACTTTGCAAAAAACGCATTTGCAAAAAGTCACTTACTGCACATCCTATGAATGAGAAGAGGTTGACCTAAGAGAGTCTGACACTAGAGAAAACACTTTAGAAGAAATTGTATAAAG___ATTTCACTGATGTTCAATTGGAGTAATGGATAAAAGTGACAGAAGCCATGACTGATTAACTGG . 09CO019 ENSG00000232611.1 ENSG00000225400.1(278),ENSG00000147274.14(20875) -/- ./- chrX:136841217 chrX:136848312 exon intergenic duplication 0 1 1 0 3 medium . . . . . ENSG00000232611.1 . ENST00000435597.1 . upstream downstream . ^(TTTTTCAGGTTTTACTGTTTGATTATGCTCCAAATCAATTTTATTGCCCACTAAGGTAACCAGCGGCTGAGTTTCTGACTCTTCACTCACTTTCTTCACTAATCTTCTAAAAATTCTCAAAGCTTTGATAACTTGTAATACCATATACCAAGATGATTTCCTGTGCTCCATAGATGGATCTGTCCAACATTTTGCTTCTTATTGTCCGGCCTCCTGTATCCCAAACTAGAGAGTAACATTCAAGTTTCCTGGCAATGTTATCCTTCTCAAAAGAAATCCAGTCCTATAGTTTGTACTGGTTCCTGAAAGTTTTTTGAGCAAAATCTGTAGCTAAGGAGGTCTTCCGGGAGGTGCTGTTCCCTAGCACGATGATTTTCAGTGCTGGTCCTGGCTCTCTTCCTTAGAGTCCTACATGATGTCCCAGGAACCATGCCTGCCCCGCTCCCCCGGGTGGAGGGAGGAGGGGAAGGAGAAGGTCTCCAGGGGTGAGGGAGGAAGAAGGGAGGGTAGTGGGGACAGTACCTCACTTGTCTGCTCGATGTCAGCAGTGGCTGGAGAATCTCTCGCCAGGTGCCATCTTGCCAATCTCTTCTCCCTCTGCCCTCTGTGGGTCTTTTGTTGAGGGCTGGGCTGTACATGCATAGTATGAGATTCTGTGAGGCCTAGAAAAGAGCAGCTGCTATGGGGTTGAAAGAAGAATGGAGAAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCAGTTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAAATTAGCTGGGTATGGTGGCACATGCCTGTAGTACAAGCTACTTGAGAGGCTGAGGCAGGAGAATGGTTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAACATTGCGTTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGAGATACTAGAGGTTGCACAGTGCTGAGAAATATGAGGTTCTGACCTAGCCAGAGTGGAGAGAACTTTTTAACATCATAG___GCATGCGCCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGCACCTCTTCCACTTTTATGATTAGATTGGGCCCATGTGGATAAACCAGGGCAATCTCCTATTTTTAGTAAACTGATTAGCATCTTTAATTTCATCTGCAATCTTAATTCCTCTTTGCCATGTATCATAAGATATATACAGGTTCCAAAGATTAAGATGTAGACATCTTTGGGTGGCCATTATTCTGCCTACCACACACAATATGTCCTCTGACTGTAATGGAACCAAACTGGAAATCAGTAATAGAAATACATACCACCACGCCTGGCTAATTTTATTTTTGTAGAGATGGGGTCTCGCTGCTCAGGCCAGTCTGGAGCTCCTGGGCTTATGTGATCCTCTTGCCTTGGCATCCCAAAGTGGTGGGATTATAGGCATGAACCACTGCACCCGGCTTAATTTACGTTTTATAGTGTGCAATTCAATGTTTTGGGTTTTTTTTTCTTTTTAAAGCATATTTACAGAGTTGTGCAACCGTCACCACTATCTAACTTAAGAATATTTTAGCCAGGCATGGTAGGTAGCACGTGCCTGTAGTCCATGCTACTTGGGAGGCTGAGGCAAGAGGATTGCTCGAGCCCAGGAGGTTAAGGCTGCAGTGAGCTATGATCACACCCACTGTACGTCAGTCTGCTTGACAGAGTGAGACCTTGTTTCAAAAAAAAAAAATAAAATTTCTATCACCCTAAAAAGAAACCCCATACTTACTCTTAGTCACTTGCTATTCCTTTTTGTCCCTGGGCCCGGAAATAACTACGTTCTGTTTCTATGAATTTTCCTATTCTGTACTTGCATATAAATTGAATCATACAATATTTAGTCTTTCATGACTGGCTTCTTAGAATGTTTTTGAAGTTCATGCACATTGAGGTACACATCAGTACTTCATCTCTTGGTCAAATAATATTACATTGTATGAATGTATCACATTTGCTTTGTCCATTCATCAGTTGATAGATATTTGGGAGTTACACTTTTTGTCTATGATGAATAATGCTGCTGTGAACATTCCTGAGCAGGTTTTGGTAAGAACCCCTGTGTTTTCAGTTCTTCGGGGTATATACCTCAGAGTAGAATTGCTGGGTCCTAAGGTAACTAACTCATTGTTTACCATTTTGAGGAAATACAAAACTATTTTCCAAAGTGGCTATACCATTTTACAATTTCATGAAAGAGAAATTTATAATACTAAATGATGCTTATATTAGAAAAAAGGAAAGATCTCAAATTAATAATCTAAATTAATAATCTAAGTTCCTGATTCAAGCAACTAGAAAAAGAAAAGCAAATGAAACCAAAGGACTGGACGCAATGGCTTATGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTCAAGACCAGCCCAGACAACTAGTGGGACCCTATCTCTACTAAAAAAAAAGTTAAAAAATAAACCAAAGAAAGC)AGAAGAAACAGTGCAAGAAGAGAAATCAC|CGCGCCCGGCCGGACACCATTCTTTTTCAATGAAACAGTCTAATTCCAGAGAATGAGACTTCCAGTTTGAATGCAAAGTGTGTGGTCCCAAAGTTGAATTCTTTTGAACCCAAGTACATGCCTGCGGTTGGGAGGAACACTTAAAGATGAAGCAAG . 09CO022 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 9 0 37 48 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(3) ATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCgTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09CO022 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 8 0 212 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGG)CATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09CO022 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 6 7 1 31 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) TCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 09CO022 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 7 7 0 14 30 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 mismatches(1) GGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGAC(ACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 09CO022 ENSG00000159579.14 ENSG00000172775.17 +/+ -/- chr16:57231319 chr16:57154507 CDS/splice-site CDS/splice-site inversion 12 2 0 108 243 high out-of-frame . SPRY_domain(100%)| . . ENSG00000159579.14 ENSG00000172775.17 ENST00000394420.9 ENST00000309137.13 downstream downstream . ^(CTCTGCGCGTAATGGCAGCGCCGTGGCCTCGCGTCCATCTTTGCCGTTCTCTCGGACCTGTCACAAAGGAGTCGCGCCGCCGCCGCCGCCCCCTCCCTCCGGTGGGCCCGGGAGGTAGAGAAA___AACTGCCATTGGATGTCCAGAATCCCCTGTAGTTGATAATGTTGGGAATAAGCTCTGCAACTTTCTTTGGCATTCAGTTGTTAAAAACAAATAGGATGCAAATTCCTCAACTCCAGGTTATGAAAACAGTACTTGGAAAACTGAAAACTACCTAAATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTGTTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATGGGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAGCAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCTGTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTGGATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAA___TGATCAGGAACCTCCCTATTCAATGATAACATTACACGAAATGGCAGAAACAG___ATGAAGGATGGTTGGATGTTGTCCAGTCTTTAATTAGAGTTATTCCACTGGAAGATCCACTGGGACCAGCTGTTATAACATTGTTACTAGATGAATGTCCATTGCCCACTAAA___GATGCACTCCAGAAATTGACTGAAATTCTCAATTTAAATGGAGAAGTAGCTTGCCAGGACTCAAGCCATCCTGCCAAACACAGGAACACATCTGCAGTCCTAGGCTGCTTGGCCGAGAAACTAGCAG___GTCCTGCAAGTATAGGTTTACTTAGCCCAGGAATACTGGAATACTTGCTACAGTGTCTG___AAGTTACAGTCCCACCCCACAGTCATGCTTTTTGCACTTATCGCACTGGAAAAGTTTGCACAGACAA___GTGAAAATAAATTGACTATTTCTGAATCCAGTATTAGTGACCGGCTTGTCACATTGGAGTCCTGGGCTAATGATCCTGATTATCTGAAACGTCAAGTTGGTTTCTGTGCCCAGTGGAGCTTAGACAATCTCT___TTTTAAAAGAAGGTAGACAGCTGACCTATGAGAAAGTGAACTTGAGTAGCATTAGGGCCATGCTGAATAGCAATGATGTCAGCGAGTACCTGAAGATCTCACCTCATGGCTTAGAG___GCTCGCTGTGATGCCTCCTCTTTTGAAAGTGTGCGTTGCACCTTTTGTGTGGATGCCGGGGTATGGTACTATGAAGTAACAGTGGTCACTTCTGGCGTCATGCAGATTGGCTGGGCCACTCGAGACAGCAAATTCCTCAATCAT___GAAGGCTACGGCATTGGGGATGATGAATACTCCTGTGCGTATGATGGCTGCCGGCAGCTGATTTGGTACAATGCCAGAAGTAAGCCTCACATACACCCATGCTGGAAAGAAG___GAGATACAGTAGGATTTCTGTTAGACTTGAATGAAAAGCAAATGATCTTCTTTTTAAATGGCAACCAGCTGCCTCCTGAAA)AGCAAGTCTTTTCATCTACTGT___ATCTGGATTTTTTGCTGCAGCTAGTTTCATGTCATATCAACAATGTGAGTTCAATTTTGGAGCAAAACCATTCAAATACCCACCATCTATGAAATTTAGCACTTTTAATGACTACGCCTTCCTAACAGCTGAAGAAAAAATCATTTTGCCAAG|AGCCCTCATCCTGCAAGTCTCTCGGAAACACCTCCCTGAGTGGCCCCTCCATCCACTGCCCCTCTGCTGCAGTATGTATCGGCATCCTCCCAGGCCTGGGTGCCTACTCTGGGAGCAGCGACTCCGAGTCCAGCTCAGACAGCGAAGGCACCATCAATGCCAC(CGGAAAGATTGTCTCCTCCATCTTCCGAACCAACACCTTCCTCGAGGCCCCCTAGTTTCTCCGTCCCTACACAGGGAGCTCCTCCCCAAGGGTAGATCGGACCGTTCATGCTGCCTATAGGCATTATGTCCCTCAAAAAAAAACTCCTTTGCCTGCATCCTGTGTACAACATGACATTTTTAACCAATCCAATCTAAAAATGTGCCAGAATCCACCTGTGGCCCGAATCGTGTTTGGTTCCTCTTTCTACTCCACTGCAGATGACCAAACCTGTCCCGCTGCCACTTTCCTCACTGATATTGGGAGGAGGGCAAGGCCCAGCCGAAGTTCCACTAAAAATGCCCCAGGAGAATAGGCACCGGCTGGCTTGCCAAAGGGTTTGGGTTTTATTGCTTTCTGTTTTTTCTTTTCCCGACAGCACAAAGAAGTAAGGGCAGTTATTGGACAGGTGTTATTTAAACATTCTATTGTAAATGAATGTGTTGTTTGGTTCTACTGCATTGTGGAGCATGCGGGGGAAGAGAACTGACCCAGGTAGTGAAATGGAGCCCTTCCCTGGAACTAACCAGTCCTTGATGTTGTGTGACTAAGTAAAGATGATAAACCCCATCTGCTGGGGGTGTCACTTCACACTCGGCATGCATTGTGAAAGCTTTCCATACCCTTGGCCATTCCCTCTCTCCTCTCTCTCCAACCCCATTTATGCAGGAAGGGACTGCTAACAAGAACGCTTCCATCTCAAACCTTTTCTCTGCCTGGGAAATTATTTTATGTTTGTTTTTGAAATAAAGGATTTAGTTTAAGATTCTAAATTTTAGAGAAACAAACGTAGGCCTTGTTTACTAATAGCCAGACATCAGAACTGCAGGTAGGTATGTTAATGAGATGACTTATTTCTGGCAGCTCCTGGAATCCTAATATTGTAAATGAGTGGGACACACTTGCATATTGTGACCATTCTATTGAGGCCCTTCTCTGTTTAATGCATATTATACTTGTGCTTTTAACTGTGGAATCTATTTCTAACCTAAAGGTGCTGCCCTAGTACTTTTCTTTGCTGCCTCTGCTGCTCTTTTTCCTTTCCAAACAGCAACTCTGAGGCCATGAGCAGCCAAAAACTAGAGGTACTGCTCCACCTCGTCTCATAAAGGGAAACGGGCTCATCCCTTGGATTCTGGAGGAGGGAGAGGGAGATGGTGTGGAGGCCTCGAGGACAGAGATAGACATGAGCTTTGACAACAATCTGTAGGCTCTCCTGCTTTAGAATAAGCATGTACCATTCTTTATCCATTCCCCTTATTCCTACATCAATTGTTTTTACTTTCTTGGGTGTGAGACTGAGTGAGACACACACAAAATGTGTTGACACTGTGATGCCGGCAGGCAGAGCAGCTACTGACTTTGAACATGGGCAGAGAGGCCCCTGGATCTCATCCAGCCCACTCCTTTTCCCCTTCCAGTACAGTGACACTCTGGTGCCCATTGGCAGATGGCGACTTCCCTGCACCCATAACTGATGCTTTGTGAATTCTTCCTCCTTTTCAGAACTACTCTGTGCTAATTGTTCTGCCAGTATGGGCGCATCAGCTCCATCCTGACAAACAAGACATTTAGGTAAAACTTTGTAGGCACCTTCTGCTTCTCTGCTTCATTGTTCCTGTGATAGTCCTGTTGTTATTACAGCATGTACCCAAAACAGCCTCACATTGTTACAGGAGGCAGGCCAGGACATCAAAGTCATCATCTTTATGTGGCATGACTCTTAAGAGGCCATTACTGTATCTCATGGCCTCTTGATGTGGAAAGAAGTTGACAGAGGGTTGCAGGGTTTAAAAACATCCATTAACATGAAAGCTAATAAACCTGTCAGAGAACAAGA)$ MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQQQAENSAVPTADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLDVVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPASIGLLSPGILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWANDPDYLKRQVGFCAQWSLDNLFLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESVRCTFCVDAGVWYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHPCWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMKFSTFNDYAFLTAEEKIILPr|alilqvsrkhlpewplhplplccsmyrhpprpgcllweqrlrvqlrqrrhhqchrkdcllhlpnqhlprgplvspslhrellpkgrsdrsccl* 09CO022 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 17 17 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCA?CGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCC(GCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09CO022 ENSG00000064932.16 ENSG00000181588.16 -/- -/- chr19:1174172 chr19:1556923 5'UTR/splice-site CDS/splice-site duplication 1 2 0 7 60 high . . |KH_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%) . . ENSG00000064932.16 ENSG00000181588.16 ENST00000361757.8 ENST00000402693.4 upstream downstream . ^(AAGA)TGGCGCCCGAAACCCGGAAGTGAGCGGCGGCAGCTGCGAGGCTCGGAGAAACAGGCGCCGCGGGCTCCGCGCCCGGCCGGACCCGGGCCCGAG|GCTGCAAGATCAAGGCCCTGCGGGCCAAGACAAACACCTACATCAAGACCCCAGTGCGGGGCGAGGAGCCGGTCTTCATCGTGACCGGCCGGAAGGAGGACGTGGAGATGGCCAAGCGTGAGATCCTGTCGGCGGCCGAACACTTCTCCATCATCCGCG(CCACGCGCAGCAAGGCCGGGGGTCTGCCCGGCGCCGCCCAGGGCCCGCCCAACCTTCCCGGACAGACCACCATCCAGGTGCGCGTGCCCTACCGGGTGGTGGGGCTGGTGGTGGGGCCCAAGGGCGCCACCATCAAGCGCATCCAGCAGCGGACGCACACCTACATCGTGACGCCCGGGCGCGACAAGGAGCCGGTGTTCGCGGTCACTGGGATGCCCGAGAACGTGGACCGCGCGCGCGAGGAGATCGAGGCGCACATCACGCTGCGCACTGGCGCCTTCACCGACGCGGGCCCCGACAGCGACTTCCACGCCAACGGCACCGACGTCTGCCTGGACCTGCTCGGGGCGGCCGCCAGCCTCTGGGCCAAGACCCCCAACCAGGGACGACGGCCCCCCACGGCCACGGCCGGCCTCCGCGGGGACACGGCCCTGGGCGCCCCCAGCGCCCCCGAGGCCTTCTACGCGGGCAGCCGCGGCGGCCCCTCCGTGCCGGACCCAGGCCCCGCCAGCCCCTACAGCGGCTCCGGCAACGGGGGCTTCGCCTTCGGCGCGGAGGGTCCCGGTGCCCCGGTGGGGACGGCCGCCCCCGACGACTGCGACTTCGGCTTCGACTTCGACTTCCTGGCGCTGGACCTGACCGTGCCCGCCGCGGCCACCATCTGGGCGCCTTTTGAGCGCGCCGCCCCCTTGCCCGCCTTCAGCGGCTGCTCCACGGTCAACGGAGCCCCGGGACCTCCCGCCGCCGGCGCCCGGCGCAGCAGTGGGGCCGGGACCCCCCGCCACTCGCCCACGCTGCCCGAGCCCGGCGGCCTCCGCCTGGAGCTCCCGCTGTCTCGCCGTGGCGCCCCGGACCCGGTGGGCGCGCTGTCCTGGCGACCCCCGCAGGGCCCCGTATCCTTCCCAGGCGGCGCCGCCTTCTCCACGGCCACCTCGCTGCCCAGCAGCCCCGCGGCCGCCGCCTGCGCCCCCCTGGACTCCGGCGCCTCCGAGAACAGCCGCAAGCCCCCTTCGGCGTCCTCGGCCCCGGCCCTGGCGCGAGAGTGCGTGGTGTGCGCCGAGGGCGAGGTGATGGCTGCGCTGGTCCCCTGCGGCCACAACCTCTTCTGCATGGACTGCGCCGTCCGCATCTGCGGCAAGAGCGAGCCCGAGTGTCCCGCCTGCCGCACGCCGGCCACCCAGGCCATTCATATCTTTTCCTAGAGCGCGGACCACCACGTGGCCGGGGCCATCTGCGGGGGCCAGGGGTGGGCGCGGGAGACGGGGCGGGACCCGGGGTGGGAGAGGGACGGGGAGGGGGCGAGGGGCGGAGGCCGAGGGGGCAGGGGGGTGGGCGGCGGCCAGTGTTTACAGATGAGCTTTAACTGCCGCCTCAGGCGTGGAGACGGAGACCCCGCAGCCCGGCGGCGCCTCAGCCCTTCAACGACAGTATTGAGTGGTCAGGTTACAATAAACCGGAGAGAAAAGGTCCGCTTGCACTTTTTTTAGTTTTCTTATTTTTAGACACCCCTCCCCTCCAGGGTGATCTTTAAAAAAGCAAAACAAAAAACACGACTTTTCCAGCGCTCAGCGTTTTTTCCTTTCGTCCGAAGCCGTTTTCTGATTTGACTTTTCTCGCCGGCCGGTCTCAGGCCGCACAGACGTTCCAGAGGAGGAGGGTGACATTTTTACTCCCTTTTTGGGGCTAACCATTTATGCTTTTGTACATCAACCGTGCGCGGCCGGAGGGGGCAGGGGGGCGGGGGCGAGGGGCGTTCCAATCAAATTTCTAACTTTCTGTTAATTATTAATCCCCTTTTTACTGCGGTTTCTGTTGTCATTTTTAAAATTTTTTTAATTTTTTTTTTTTTTTACTTTTACTTTTTACCTCTTGTGTATATGTAGGGAATTTATAGGGAAATATGTACTTTATGGAATAAATTTTAAGAACTAAAATATATTTTATTTTAAATAAAGTAATGGACCTTTAATCTTACACAGCTAAATTACTGATTATATATTTGCTGAGCTGATTTAAGGGTTAAAAAAATTGTATCAAGAGTTTTATTTTTTGACTTCAAAGCCTTCTTAATAAAGCCTCTTTTCTACATGTGAGCA)$ . 09CO022 ENSG00000005483.21 ENSG00000187416.12 +/+ +/+ chr7:105041023 chr7:104906187 CDS/splice-site CDS/splice-site duplication 2 1 0 39 3 high out-of-frame . . . . ENSG00000005483.21 ENSG00000187416.12 ENST00000311117.8 ENST00000424859.6 downstream upstream . ^(AGAGCGAGAGGCAGTGACACTGAGCGGGCGCAGGGGGCCGAGTCGGAGACCGTGCCGGAGTTCGGGAGCGGCAACAGAGTGGGCATAGACACTCCGAGCAGCCTCGCCGTCGTCTCTGCGTTCCTGTTGACTGCCTGGCTGCCCCCTCCCCTACTCCTCGGTTCCTGGTGAAGAGGCTGCGCGCTGCTGTTTGGGGAGGGGGTGTGTGGAGCCGGGTCCTGTGTCCGCAGTGGCTGCTGTCGGGGGGTCGCCTGTTCGCGGAGGTGCGGAGAGACTCCTTGGGGGTCGAGCACATAACGGGGTTCGGGTGTCTCGTGTGTGAACATCACAG___GTCTATTCTGGATAAGCAGGTTTTGTGAAGACATTTATTCTTTCTTGGACCTCAGATTTACCAGACATCTCATG___)GGTTTGTGGATGCACTTAGATGTTTGCAATGAGCACTGTGGCTGGCATGCCCCAGTGTTTTGGATACCAATGCATAGGACTCCATAGTAATCGAATTTACCAGAGGCGAACGTCATGAGCATAGTGATCCCATTGGGGGTTGATACAGCAGAGACGTCATACTTGGAAATGGCTGCAGGTTCAGA|TTCTGCTAAGCCAATATTCTCTAGAATGAGCACAAAACAAATCGAATAACAGCTAAACAAATCGAATAACAGCTAAACGAATCGAATAACAGCTTTTGTACATCAACATCAAGAAGGAATACGCCTGAGAGAGATCAGAGTATATAGATGAATATGAAC(AAGAATGGAACATTCACTTGTCAACGCACTTTCTAAATCTAGATCAGCAGAGATGGGAGTGATTTTCTGGAAAGAGATGTGATCATGGATTAAACACCAGCTCATTGGAAACTCATTGGATGAGATCAGAAAACGTTCATGAAAAATCATATTCAGGAAATAAGGAAGAGGAATATAAATGCTCTAGAGTTAACATGTAAAATATATACGTACTGAGGTTTGTAAACTGTCCTTTTTAAATCAAACTGAAAACAAAAAGCTTTAACCTTTCAACAGAATTTTTAAAAAGGCAGTTAGTTCTAAATTATTCCTATCTCAATAGCCAAGAGGCTGATCAAGCGTCATTTATTGAGGAAGCATCTTAGAAAATGCCTCTGAATGTTTTCATAGGAGCCGTGACCTTTGGTTCTTCATCTCTACCATTCATTTACTTCACTGTGTAATTAGTTACAACCACTCAGTTATTAAGAGACGTAACGCTTCAAACTTTTTACCAAGTCTGTGTTCTGTTTAATCTGTCCATACAAGTTATTACTGAGAAAGTGTTTATGCCATATACTATTACTCCATCAAGCTGTATATTACAGGAAGTACATCTTTACATCATAGGTTCCCAAGCAACATAGATTTCCCTATCTTTCAGGAAACAGCATCAAGGAACTCTGAAAAATATAGAAAAAGTTCATTTTCACCTTGGAAGCTCACGTGTAATATTATAGGCTACTATCAAATAAACACTTTTTTTCTAATTCTCCCTAGTATATGCATAGGAATTTAATATACTTTATAAATAAGTATCTAAAATGTCTCCTACTTTTTTCCTATTTCTTTGCCATACATGTTATCAGAAATCCATGTCTTCTATTTCCCTTACTGATGGGCACTCA)$ MSIVIPLGVDTAETSYLEMAAGSd|sakpifsrmstkqie* 09CO022 ENSG00000213341.11 ENSG00000107099.15 -/- +/+ chr10:100217995 chr9:426885 CDS/splice-site CDS/splice-site translocation 1 1 0 34 7 high out-of-frame . Protein_kinase_domain(100%)|Dock_homology_region_2(100%) . . ENSG00000213341.11 ENSG00000107099.15 ENST00000370397.8 ENST00000432829.6 upstream upstream . ^(ATCGGCGGCCCGGAACCGGCCTTGGAACAACTGTGGAACCTGAGGCCGCTTGCCCTCCCGCCCCATGGAGCGGCCCCCGGGGCTGCGGCCGGGCGCGGGCGGGCCCTGGGAGATGCGGGAGCGGCTGGGCACCGGCGGCTTCGGGAACGTCTGTCTGTACCAGCATCGG___GAACTTGATCTCAAAATAGCAATTAAGTCTTGTCGCCTAGAGCTAAGTACCAAAAACAGAGAACGATGGTGCCATGAAATCCAGATTATGAAGAA___GTTGAACCATGCCAATGTTGTAAAGGCCTGTGATGTTCCTGAAGAATTGAATATTTTGATTCATGATGTGCCTCTTCTAGCAATGGAATACTGTTCTGGAGGAGATCTCCGAAAG___CTGCTCAACAAACCAGAAAATTGTTGTGGACTTAAAGAAAGCCAGATACTTTCTTTACTAAGTGATATAG___GGTCTGGGATTCGATATTTGCATGAAAACAAAATTATACATCGAGATCTAAAACCTGAAAACATAGTTCTTCAGGATGTTGGTGGAAAG___ATAATACATAAAATAATTGATCTGGGATATGCCAAAGATGTTGATCAAGGAAGTCTGTGTACATCTTTTGTGGGAACACTGCAGTATCTG___GCCCCAGAGCTCTTTGAGAATAAGCCTTACACAGCCACTGTTGATTATTGGAGCTTTGGGACCATGGTATTTGAATGTATTGCTGGATATAGGCCTTTTTTGCATCATCTGCAGCCATTTACCTG___GCATGAGAAGATTAAGAAGAAGGATCCAAAGTGTATATTTGCA)TGTGAAGAGATGTCAGGAGAAGTTCGGTTTAGTAGCCATaTACCTCAACCAAATAGCCTTTGTAG___TTTAaTAGTAGAACCCATGGAtAACTGGCTACAGTTGATGTTGAATTGGGACCCTCAGCAGAGAGGAGGACCTGTTGACCTTACTTTGAAGCAGCCAAGATGTTTTGTATTAATGGATCACATTTTGAATTTGAAG|AACAAAGGCCGAGTTAGATCAAGAAGCCTTGATCAGTGGCAATCTGGCTACAGAAGCACATTTAATCATCCTGGATATGCAGGAAAACATTATCCAG___GCGAGCTCGGCTCTGGACTGTAAAGACAGCCTGCTGGGAG(GTGTTCTGAGGGTGCTGGTGAATTCTCTGAACTGTGATCAGAGTACCACCTACCTGACTCACTGCTTTGCAACACTCCGTGCTCTCATCGCCAAG___TTTGGAGACTTACTCTTTGAAGAGGAGGTGGAACAGTGTTTCGACCTATGTCACCAAGTCCTGCACCACTGCAGCAGCAGCATGGATGTCACCCGGAGCCAAGCCTGTGCCACCCTTTACCTCCTCATGAGGTTCAGTTTTGGAGCCACCAGT___AATTTTGCAAGAGTAAAGATGCAAGTAACCATGTCCCTGGCATCTTTGGTGGGAAGAGCACCAGACTTTAATGAAGAGCACCTGAGAAGATCCTTGAGGACAATTTTGGCCTATTCAGAAGAGGACACAGCCATGCAGATGACTCCTTTTCCCACCCAG___GTGGAGGAACTTCTCTGTAATCTGAATAGCATCTTATATGACACAGTGAAAATGAGGGAATTTCAGGAAGATCCTGAGATGCTTATGGATCTCATGTACAG___AATTGCCAAGAGTTACCAGGCATCTCCTGATCTGCGGCTGACCTGGCTCCAGAACATGGCAGAGAAACACACCAAGAAGAAGTGCTACACGGAGGCTGCCATGTGCCTGGTGCACGCCGCTGCGTTAGTGGCTGAGTATCTGAGCATGCTGGAGGACCACAGCTACCTGCCCGTGGGCAGTGTCAGCTTCCAG___AATATTTCTTCCAATGTGCTGGAGGAGTCTGTGGTCTCTGAGGACACCCTGTCACCTGACGAGGATGGGGTGTGCGCAGGCCAGTACTTCACCGAGAGTGGCCTGGTAGGCCTCCTGGAGCAGGCCGCGGAGCTCTTCAGCACG___GGAGGCTTATATGAGACAGTTAATGAGGTCTACAAGCTGGTCATCCCCATCCTAGAAGCGCATCGAGAATTCCGGAAGCTGACACTCACTCACAGCAAGCTGCAGAGAGCCTTCGACAGCATCGTTAACAAG___GATCATAAGAGAATGTTTGGAACCTACTTCCGAGTTGGTTTCTTTGGATCCAAATTTGGGGATTTGGATGAACAGGAGTTTGTCTACAAAGAGCCTGCAATTACCAAGCTTCCTGAGATCTCACATAGACTAGAG___GCATTTTATGGTCAATGTTTTGGTGCAGAATTTGTGGAAGTGATTAAAGACTCCACTCCTGTGGACAAAACCAAGTTGGATCCTAACAAG___GCCTACATACAGATCACTTTTGTGGAGCCCTACTTTGATGAGTATGAGATGAAAGACAGGGTCACATACTTTGAGAAGAATTTCAACCTCCGGAGGTTCATGTACACCACCCCGTTCACCCTGGAGGGGCGGCCTCGGGGAGAGCTGCATGAGCAGTACAGAAGGAACACAGTCCTGACCACTATGCACGCCTTCCCCTACATCAAGACCAGGATCAGCGTCATCCAGAAGGAGGAG___TTTGTTTTGACACCGATTGAAGTTGCCATTGAAGACATGAAGAAGAAGACCCTGCAGTTAGCAGTTGCCATTAACCAGGAGCCGCCTGATGCAAAGATGCTTCAGATGGTGCTGCAAGGCTCTGTGGGAGCTACTGTAAATCAG___GGACCACTGGAAGTAGCCCAAGTGTTTTTGGCTGAAATTCCTGCTGATCCAAAACTCTATCGACATCACAACAAGTTGAGGTTATGCTTTAAGGAATTCATCATGAG___ATGTGGTGAAGCTGTAGAGAAAAACAAGCGTCTCATCACGGCAGACCAGAGGGAATATCAGCAGGAACTCAAAAAGAACTATAACAAGCTAAAAGAGAACCTCAGGCCAATGATCGAGCGGAAAATTCCAGAACTGTACAAGCCAATATTCAGAGTTGAGAGTCAAAAGAG___GGACTCCTTCCACAGATCTAGTTTCAGGAAATGTGAAACCCAGTTGTCACAGGGCAGCTAAGAAAAGCCATCTTCATTCGTGGAGACTGTGGCCCTGCAACCCTGGAGAAGGACTTGCTGGTACTTAAAAAATGGGACATTTGCCACCCAGGACTGACTGTACACTCCCTGATCAGCCAGCACTCTGGAAGCTTTGGGATCCCAGGAACCATGGAATTATTCCCAAATGGACTCTGACCAGATTTTTGCCATACTGGGGGGTGGCGGGATGGAGGATGGGTACTCAGGCATGACTGCGTATTTATTAAAGTGTGTTTTTCCACAATGTACCAAACAAGGCATAAGCAGCTTCTCCTGCTGACTGGCCAATCACTGCCCATCTGAGAGATGATTTCCTCTGGCCCATATTTGAATTTATTGGAGTAACTCAAATTGCCTGAGGAAAAATGGAAAAATTATCCACCAGTCGATTCAAACTGAATTTCACTCTTTATAGGAAGGCAGGGCAAACTTGTAGGAGTACGAAACATTTTCAATAAATCTACAAAGGGAAGCCTTACTACAATTCCAAAAATCATCATGGTTGGAAATTTGGGAGGAGATTATTTGTGAACTTGTTACCCTTTTGGTAATGGTGGACTAATTGCTGTATAGTTATTTTTGTTTTATTATTACTGTTACATTAATTTAACATGCATTTATAGAAGAATACATTCAAAGCACTGATGTAGGAGATACACGGTACTTGGAGCAGTCAGCCAGAAATCACAGATACTGCTTTCACTTAAATGGAAACAATTCTCCGATAATGCTTTGCTTTTTTTCTTATGTCACTCTTGTGTACTATCTATTTTTCTCCTCTCTGGGACCAAGTTTCTTTTTATAAAGCAATAATATCTCTGTTTTCATTTCAGAACATTGTGCTGTCTGTCAGCATATGTATATCAGCTACAAAATATATTCAACTTTGACTTCTTTTGACAAAGGACTTTAGGAAAAAGAGGAACAAAGACATTATTTGAGAATTAAATTATATATTTTTAATATGACTGTGACCTTGACTGATAATAAAGATGTAATAAGAATTGCAAGCTAAATGTT)$ MERPPGLRPGAGGPWEMRERLGTGGFGNVCLYQHRELDLKIAIKSCRLELSTKNRERWCHEIQIMKKLNHANVVKACDVPEELNILIHDVPLLAMEYCSGGDLRKLLNKPENCCGLKESQILSLLSDIGSGIRYLHENKIIHRDLKPENIVLQDVGGKIIHKIIDLGYAKDVDQGSLCTSFVGTLQYLAPELFENKPYTATVDYWSFGTMVFECIAGYRPFLHHLQPFTWHEKIKKKDPKCIFACEEMSGEVRFSSHiPQPNSLCSLiVEPMdNWLQLMLNWDPQQRGGPVDLTLKQPRCFVLMDHILNLK|nkgrvrsrsldqwqsgyrstfnhpgyagkhypgelgsgl* 09CO022 ENSG00000130787.14 ENSG00000130779.20(9621),ENSG00000033030.15(39346) +/+ ./+ chr12:122854209 chr12:122432253 intron intergenic duplication 5 1 1 15 10 medium out-of-frame . ANTH_domain(100%)| . . ENSG00000130787.14 . ENST00000253083.9 . downstream upstream . ^(GCGGTGGCCTCGCGGTGCCTAGGCTGGGGCTGCCGGACCGTGAGGCTGTGAGTCGCGCGGACGGAGCCGGACAAAAGCGGGCGGCGGCGGCAGGATGAACAGCATCAAGAACGTGCCGGCGCGGGTGCTGAGCCGCAGGCCGGGCCACAGCCTGGAGGCCGAGCGCGAGCAGTTCGACAAGACCCAG___GCCATCAGCATCAGCAAAGCCATCAACACCCAGGAGGCCCCCGTGAAGGAGAAGCACGCCCGGC___GCATCATTCTGGGCACACACCACGAGAAGGGGGCTTTCACCTTCTGGTCCTACGCCATTGGGCTGCCGCTGCCCAGCAGCTCCATTCTCAGCTGGAAGTTCTGCCACGTCCTCCACAAGGTCCTTCGAGACGGGCACCCCAAT___GTGCTGCATGACTGCCAGCGGTACCGCAGCAACATCCGGGAGATTGGAGACCTGTGG___GGACATTTGCATGACCGCTACGGACAGCTGGTGAATGTCTACACCAAGCTGCTGCTGACCAAGATCTCCTTCCACCTCAAG___CATCCCCAGTTTCCCGCGGGCCTGGAGGTGACAGATGAGGTACTGGAGAAGGCAGCTGGGACCGATGTCAACAACAT___CTTCCAGCTCACTGTG)GAGATGTTTGATTACATGGATTGTGAGCTGAAGCTTTCTGAATCAG___TTTTCCGACAGCTCAACACGGCCATCGCCGTATCCCAGATGTCCTCAGGCCAGTGCCGCCTGGCCCCCCTCATCCAGGTCATCCAGGACTGCAGCCACCTCTACCACTACACGGTCAAGCTCCTGTTCAAGCTACACTCTTGTGAGTGGCCCAGGGCAACCCCTGGC|TGTGGCGGCACGTGTCTGTAGT-CCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAA MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHScewpratpg|cggtcl* 09CO022 ENSG00000141627.13 ENSG00000239780.1(28793),ENSG00000141639.12(72499) -/- ./- chr18:49460398 chr18:50487588 5'UTR/splice-site intergenic duplication 0 6 0 37 13 medium . . . . . ENSG00000141627.13 . ENST00000269445.10 . upstream downstream . ^(GCTTTGCGGTAGCCCAGGAGGTACTAGGAGGGCGGAGGCACGAATAACACCCAAAGGACTACAGTTTCCAGAAGCCCGCGCGCGCCGCGTGCCACGTGACCACCTGGCTGGCGCGCGCGCCTGGGGGTCTGGTCCCTAGCCGCGTTCTCGGTCGCTTCCCTCTTCTCTCGCCGCCTCCTGGCCTCCGCACCGACGCGGCCCGGGCTGGAGCCGAGCCGGGGCCGAGCTGCAGGCCGGACCGGAGCCGGATCTGTACCCGCTGAGACGTGGAAACATGGAGGCCTGAGCCGGTGTGCGCCACCTGGGCTGCGGCGGCGACAGCGACTTCTCCTGAC)CCCTCTGCCACCCTCCCATCCGTCCGCGGGTCCGTGGAGCTGGAGCAGATCCCCCAGCCGGCTGAGACAG|GATTCAGGACATGCTACCCCAAAATATGGCACTTTGGCgTTTGAGAAAACAGCAGAAGCAGGAAGGTTACTTTCACCTTCTCCTCAGCCTTCTCCCCTGAGGGAGGTCATAAAACTGTCATTCCAAAGGTTCCTTCCCTAAACCTGGAGGAAAGTAATATCCTCATTCTTGAAGACACAGGAACACAGAGAAGAATCTGAATAAACAGGC . 09CO022 ENSG00000168918.14 ENSG00000066248.15 +/+ -/+ chr2:233079398 chr2:232981526 CDS/splice-site intron duplication/5'-5' 3 0 0 26 11 medium out-of-frame . SH2_domain(100%)| . . ENSG00000168918.14 ENSG00000066248.15 ENST00000359570.9 . downstream upstream mismatches(1) ^(CTAGGGCATGGCATCCCACGTGGGTGTCAGCACGGCCGCAGAAGAACCACTTCTCTGGCCCACCCATGCCTGCTAGGCCATGCTTCTTCAGAAGTGGCCACAACTCTCCTGACGTCTCCAGAGCCGGTCATTCCACCCAGGGGGACTTCAGCTGCCACTGGACACTTCAATTGTACGCTGCGACCAGTTGCCAGGAAGGAGAGGGCTGGCAAGAGAGCCGCGGCAGCCGTGGCAGGGTGTAGGGGACGGTGGACGGCCAGGGCCCCCCCCTCTCTCTCTTTCTCTCTCTCTCTCTTGCTTGGTTTCTGTAATGAGGAAGTTCTCCGCAGCTCAGTTTCCTTTCCCTCACTGAGCGCCTGAAACAGGAAGTCAGTCAGTTAAGCTGGTGGCAGCAGCCGAGGCCACCAAGAGGCAACGGGCGGCAGGTTGCAGTGGAGGGGCCTCCGCTCCCCTCGGTGGTGTGTGGGTCCTGGGGGTGCCTGCCGGCCCGGCCGAGGAGGCCCACGCCCACCATGGTCCCCTGCTGGAACCATG)GCAACATCACCCGCTCCAAGGCGGAGGAGCTGCTTTCCAGGACAGGCAAGGACGGGAGCTTCCTCGTGCGTGCCAGCGAGTCCATCTCCCGGGCATACGCGCTCTGCGTGCT___GTATCGGAATTGCGTTTACACTTACAGAATTCTGCCCAATGAAGATGATAAATTCACTGTTCAG|GCCCTGCACTGGATGGATCAGCTGACACCACCCAGACCGTGGTAATCTGGCTCAACCAGTTCTGCCACCCCACCCAGGAACAGAAGACAGCAAGCAAACCTCACTTCAATCCCTATGATTCCAT MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVLYRNCVYTYRILPNEDDKFTVQ|alhwmdqltpprpw* 11CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 10 0 31 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 duplicates(3),low_entropy(1),mismappers(1),mismatches(2) ATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGAC(TCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO005 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 12 1 24 26 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(2) CGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAG(CTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO005 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 10 0 21 19 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCA)TTACAAATCTAGTTCCCCATTGaCTACTGTTCAGCTTCATCaCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLtTVQLHhQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 11CO005 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 7 8 0 29 20 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream inconsistently_clipped(1) GAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCA(TGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO005 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 8 0 16 25 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAG(CCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO005 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 17 92 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(5) GCGGCGGCGGCGGCGGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO005 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 4 7 0 66 15 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream . ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGA)GAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAATCCCAGCTACTCG MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO005 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 3 7 0 12 19 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream . AGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATC(TACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO005 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 1 9 0 16 20 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream mismappers(2) CGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAG(GGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 11CO005 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 2 7 1 16 51 medium . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(2) GGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAtGGAGGGC(ATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO005 ENSG00000237638.2 ENSG00000154451.14 -/+ -/- chr2:64970237 chr1:89270863 exon 5'UTR translocation/3'-3' 1 2 0 2 13 medium . . |Guanylate-binding_protein__C-terminal_domain(100%),Guanylate-binding_protein__N-terminal_domain(100%) . . ENSG00000237638.2 ENSG00000154451.14 . ENST00000370459.7 downstream downstream mismatches(3) CTCAaCgCtAGGGTCCGCGGCTTCATTCTTGAAGTCAGTAGACCAAGAACCCACCAATTCCgGACAC|GCTAATTGTTGTAGATCATCACTTCAAGGTGCCCATATCTTTCTAGTGGAAAAATTATTCTGGCCTCCGCTGCATACAAATCAGGCAACCAGAATTCTACATATATAAG___GCAAAGTAACATCCTAGACATGG(CTTTAGAGATCCACATGTCAGACCCCATGTGCCTCATCGAGAACTTTAATGAGCAGCTGAAGGTTAATCAGGAAGCTTTGGAGATCCTGTCTGCCATTACGCAACCTGTAGTTGTGGTAGCGATTGTGGGCCTCTATCGCACTGGCAAATCCTACCTGATGAACAAGCTGGCTGGGAAGAACAAGG___GCTTCTCTGTTGCATCTACGGTGCAGTCTCACACCAAGGGAATTTGGATATGGTGTGTGCCTCATCCCAACTGGCCAAATCACACATTAGTTCTGCTTGACACCGAGGGCCTGGGAGATGTAGAGAAG___GCTGACAACAAGAATGATATCCAGATCTTTGCACTGGCACTCTTACTGAGCAGCACCTTTGTGTACAATACTGTGAACAAAATTGATCAGGGTGCTATCGACCTACTGCA___CAATGTGACAGAACTGACAGATCTGCTCAAGGCAAGAAACTCACCCGACCTTGACAGGGTTGAAGATCCTGCTGACTCTGCGAGCTTCTTCCCAGACTTAGTGTGGACTCTGAGAGATTTCTGCTTAGGCCTGGAAATAGATGGGCAACTTGTCACACCAGATGAATACCTGGAGAATTCCCTAAGGCCAAAGCAAG___GTAGTGATCAAAGAGTTCAAAATTTCAATTTGCCCCGTCTGTGTATACAGAAGTTCTTTCCAAAAAAGAAATGCTTTATCTTTGACTTACCTGCTCACCAAAAAAAGCTTGCCCAACTTGAAACACTGCCTGATGATGAGCTAGAGCCTGAATTTGTGCAACAAGTGACAGAATTCTGTTCCTACATCTTTAGCCATTCTATGACCAAGACTCTTCCAGGTGGCATCATGGTCAATGGATCTC___GTCTAAAGAACCTGGTGCTGACCTATGTCAATGCCATCAGCAGTGGGGATCTGCCTTGCATAGAGAATGCAGTCCTGGCCTTGGCTCAGAGAGAGAACTCAGCTGCAGTGCAAAAGGCCATTGCCCACTATGACCAGCAAATGGGCCAGAAAGTGCAGCTGCCCATGGAAACCCTCCAGGAGCTGCTGGACCTGCACAGGACCAGTGAGAGGGAGGCCATTGAAGTCTTCATGAAAAACTCTTTCAAGGATGTAGACCAAAGTTTCCAGAAAGAATTGGAG___ACTCTACTAGATGCAAAACAGAATGACATTTGTAAACGGAACCTGGAAGCATCCTCGGATTATTGCTCGGCTTTACTTAAGGATATTTTTGGTCCTCTAGAAGAAGCAGTGAAGCAGGGAATTTATTCTAAGCCAGGAGGCCATAATCTCTTCATTCAGAAAACAGAAGAACTGAAGGCAAAGTACTATCGGGAGCCTCGGAAAGGAATACAG___GCTGAAGAAGTTCTGCAGAAATATTTAAAGTCCAAGGAGTCTGTGAGTCATGCAATATTACAGACTGACCAGGCTCTCACAGAGACGGAAAAAAAGAAGAAAG___AGGCACAAGTGAAAGCAGAAGCTGAAAAGGCTGAAGCGCAAAGGTTGGCGGCGATTCAAAGGCAGAACGAGCAAATGATGCAGGAGAGGGAGAGACTCCATCAGGAACAAGTGAGACAAATGGAGATAGCCAAACAAAATTGGCTGGCAGAGCAACAGAAAATGCAGGAACAACAGATGCAG___GAACAGGCTGCACAGCTCAGCACAACATTCCAAGCTCAAAATAGAAGCCTTCTCAGTGAGCTCCAGCACGCCCAGAGGACTGTTAATAACGATGATCCATGTGTTTTACTCTAAAGTGCTAAATATGGGAGTTTCCTTTTTTTACTCTTTGTCACTGATGACACAACAGAAAAGAAACTGTAGACCTTGGGACAATCAACATTTAAATAAACTTTATAATTATTTTTTCAAACTTT)$ . 11CO007 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 5 19 0 29 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(2),mismappers(1),mismatches(1) CCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTC(TGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO007 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 8 0 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 mismappers(1),mismatches(1) TCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACaACAAGAACaAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO007 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 7 7 0 19 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGG(CCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO007 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 4 8 0 17 93 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(1),mismatches(1) ACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAG(AGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO007 ENSG00000266412.5 ENSG00000165731.20 -/- +/+ chr10:46009411 chr10:43116584 CDS/splice-site CDS/splice-site inversion 5 6 1 297 27 high in-frame Mitelman Nuclear_coactivator(100%)|Protein_kinase_domain(100%) . . ENSG00000266412.5 ENSG00000165731.20 ENST00000581486.5 ENST00000355710.8 upstream upstream duplicates(2) ^(AGAGGGCAGTCAAGGGCTTCTGGCTGACCCGAGCGGAGATCTCGCGAGACTGTCAGACGTATGGCGAGAGGTGTGGGAGGAAGATTGTGTTGTCGCGAGAACTCTGCCTTTGGGCCGTAGGTTAGTGTGGGGCCGTGTCTCAGTCCACCCAAGGTCTCCTCGGATCGCCTGGAGAGGCACTCGGACCTG___GAGCAGTGAGGAGAATGAATACCTTCCAAGACCAGAGTGGCAGCTCCAGTAATAGAGAACCCCTTTTGAGGTGTAGTGATGCACGGAGGGACTTGGAGCTTGCTATTGGTGGAGTTCTCCGGGCTGAACAGCAAATTAAAGATAACTTGCGAGAG___GTCAAAGCTCAGATTCACAGTTGCATAAGCCGTCACCTGGAATGTCTTAGAAGCCGTGAGGTATGGCTGTATGAACAGGTGGACCTTATTTATCAGCTTAAAGAGGAGACACTTCAACAGCAGGCTCAGCAGCTCTACTCG___TTATTGGGCCAGTTCAATTGTCTTACTCATCAACTGGAGTGTACCCAAAACAAAGATCTAGCCAATCAAGTCTCTGTGTGCCTGGAGAG___ACTGGGCAGTTTGACCCTTAAGCCTGAAGATTCAACTGTCCTGCTCTTTGAAGCTGACACAATTACTCTGCGCCAGACCATCACCACATTTGGGTCTCTCAAAACCATT___CAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAG___AAGTCAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG___ACTTCTTCCAGAGCCTGCAATTTCTTCAATAATGTCGGGGGAAACCTAAAGGGCTTAGAAAACTGGCTCCTCAAGAGTGAAAAATCAAGTTATCAAAAGTGTAACAGCCATTCCACTACTAGTTCTTTCTCCATTGAAATGGAAAAGGTTGGAGATCAAGAGCTTCCTGATCAAGATGAGATGGACCTATCAGATTGGCTAGTGACTCCCCAGGAATCCCATAAGCTGCGGAAGCCTGAGAATGGCAGTCGTGAAACCAGTGAGAAGTTTAAGCTCTTATTCCAGTCCTATAATGTGAATGATTGGCTTGTCAAGACTGACTCCTGTACCAACTGTCAGGGAAACCAGCCCAAAGGTGTGGAGATTGAAAACCTGGGCAATCTGAAGTGCCTGAATGACCACTTGGAGGCCAAGAAACCATTGTCCACCCCCAGCATGGTTACAGAGGATTGGCTTGTCCAGAACCATCAGGACCCATGTAAGGTAGAGGAGGTGTGCAGAGCCAATGAGCCCTGCACAAGCTTTGCAGAGTGTGTGTGTGATGAGAATTGTGAGAAGGAGGCTCTGTATAAGTGGCTTCTGAAGAAAGAAGGAAAGGATAAAAATGGGATGCCTGTGGAACCCAAACCTGAGCCTGAGAAGCATAAAGATTCCCTGAATATGTGGCTCTGTCCTAGAAAAGAAGTAATAGAACAAACTAAAGCACCAAAGGCAATGACTCCTTCTAGAATTGCTGATTCCTTCCAAGTCATAAAGAACAGCCCCTTGTCGGAGTGGCTTATCAGGCCCCCATACAAAGAAGGAAGTCCCAAGGAAGTGCCTGGTACTGAAGACAGAGCTGGCAAACAGAAGTTTAAAAGCCCCATGAATACTTCCTGGTGTTCCTTTAACACAGCTGACTGGGTCCTGCCAGGA)AAGAAGATGGGCAACCTCAGCCAGTTATCTTCTGGAGAAGACAAGTGGCTGCTTCGAAAGAAGGCCCAG___GAAGTATTACTTAATTCACCTCTACAGGAGGAACATAACTTCCCCCCAGACCATTATGGCCTCCCTGCAGTTTGTGATCTCTTTGCCTGTATGCAGCTTAAAGTTGATAAAGAGAAGTGGTTATATCGAACTCCTCTACAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAG___AGAACGCCTCCCCGAGTGAGCTtCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAG(GATG___GCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAG___CTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAG___GGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGT___ATGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGAT___GTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGA___GACTACTTGGACCTTGCGGCGTCCACTCCATCTGACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTGAAAACAAACTCTATG___GCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCTGATGGCACTAACACTGGGTTTCCAAGATATCCAAATGATAGTGTATATGCTAACTGGATGCTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGTTAACATTTCTTTGTGAAAGGTAATGGACTCACAAGGGGAAGAAACATGCTGAGAATGGAAAGTCTACCGGCCCTTTCTTTGTGAACGTCACATTGGCCGAGCCGTGTTCAGTTCCCAGGTGGCAGACTCGTTTTTGGTAGTTTGTTTTAACTTCCAAGGTGGTTTTACTTCTGATAGCCGGTGATTTTCCCTCCTAGCAGACATGCCACACCGGGTAAGAGCTCTGAGTCTTAGTGGTTAAGCATTCCTTTCTCTTCAGTGCCCAGCAGCACCCAGTGTTGGTCTGTGTCCATCAGTGACCACCAACATTCTGTGTTCACATGTGTGGGTCCAACACTTACTACCTGGTGTATGAAATTGGACCTGAACTGTTGGATTTTTCTAGTTGCCGCCAAACAAGGCAAAAAAATTTAAACATGAAGCACACACACAAAAAAGGCAGTAGGAAAAATGCTGGCCCTGATGACCTGTCCTTATTCAGAATGAGAGACTGCGGGGGGGGCCTGGGGGTAGTGTCAATGCCCCTCCAGGGCTGGAGGGGAAGAGGGGCCCCGAGGATGGGCCTGGGCTCAGCATTCGAGATCTTGAGAATGATTTTTTTTAAATCATGCAACCTTTCCTTAGGAAGACATTTGGTTTTCATCATGATTAAGATGATTCCTAGATTTAGCACAATGGAGAGATTCCATGCCATCTTTACTATGTGGATGGTGGTATCAGGGAAGAGGGCTCACAAGACACATTTGTCCCCCGGGCCCACCACATCATCCTCACGTGTTCGGTACTGAGCAGCCACTACCCCTGATGAGAACAGTATGAAGAAAGGGGGCTGTTGGAGTCCCAGAATTGCTGACAGCAGAGGCTTTGCTGCTGTGAATCCCACCTGCCACCAGCCTGCAGCACACCCCACAGCCAAGTAGAGGCGAAAGCAGTGGCTCATCCTACCTGTTAGGAGCAGGTAGGGCTTGTACTCACTTTAATTTGAATCTTATCAACTTACTCATAAAGGGACAGGCTAGCTAGCTGTGTTAGAAGTAGCAATGACAATGACCAAGGACTGCTACACCTCTGATTACAATTCTGATGTGAAAAAGATGGTGTTTGGCTCTTATAGAGCCTGTGTGAAAGGCCCATGGATCAGCTCTTCCTGTGTTTGTAATTTAATGCTGCTACAAGATGTTTCTGTTTCTTAGATTCTGACCATGACTCATAAGCTTCTTGTCATTCTTCATTGCTTGTTTGTGGTCACAGATGCACAACACTCCTCCAGTCTTGTGGGGGCAGCTTTTGGGAAGTCTCAGCAGCTCTTCTGGCTGTGTTGTCAGCACTGTAACTTCGCAGAAAAGAGTCGGATTACCAAAACACTGCCTGCTCTTCAGACTTAAAGCACTGATAGGACTTAAAATAGTCTCATTCAAATACTGTATTTTATATAGGCATTTCACAAAAACAGCAAAATTGTGGCATTTTGTGAGGCCAAGGCTTGGATGCGTGTGTAATAGAGCCTTGTGGTGTGTGCGCACACACCCAGAGGGAGAGTTTGAAAAATGCTTATTGGACACGTAACCTGGCTCTAATTTGGGCTGTTTTTCAGATACACTGTGATAAGTTCTTTTACAAATATCTATAGACATGGTAAACTTTTGGTTTTCAGATATGCTTAATGATAGTCTTACTAAATGCAGAAATAAGAATAAACTTTCTCAAATTATTAAAAATGCCTACACAGTAAGTGTGAATTGCTGCAACAGGTTTGTTCTCAGGAGGGTAAGAACTCCAGGTCTAAACAGCTGACCCAGTGATGGGGAATTTATCCTTGACCAATTTATCCTTGACCAATAACCTAATTGTCTATTCCTGAGTTATAAAAGTCCCCATCCTTATTAGCTCTACTGGAATTTTCATACACGTAAATGCAGAAGTTACTAAGTATTAAGTATTACTGAGTATTAAGTAGTAATCTGTCAGTTATTAAAATTTGTAAAATCTATTTATGAAAGGTCATTAAACCAGATCATGTTCCTTTTTTTGTAATCAAGGTGACTAAGAAAATCAGTTGTGTAAATAAAATCATGTATCATAAAA)$ MNTFQDQSGSSSNREPLLRCSDARRDLELAIGGVLRAEQQIKDNLREVKAQIHSCISRHLECLRSREVWLYEQVDLIYQLKEETLQQQAQQLYSLLGQFNCLTHQLECTQNKDLANQVSVCLERLGSLTLKPEDSTVLLFEADTITLRQTITTFGSLKTIQIPEHLMAHASSANIGPFLEKRGCISMPEQKSASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQTSSRACNFFNNVGGNLKGLENWLLKSEKSSYQKCNSHSTTSSFSIEMEKVGDQELPDQDEMDLSDWLVTPQESHKLRKPENGSRETSEKFKLLFQSYNVNDWLVKTDSCTNCQGNQPKGVEIENLGNLKCLNDHLEAKKPLSTPSMVTEDWLVQNHQDPCKVEEVCRANEPCTSFAECVCDENCEKEALYKWLLKKEGKDKNGMPVEPKPEPEKHKDSLNMWLCPRKEVIEQTKAPKAMTPSRIADSFQVIKNSPLSEWLIRPPYKEGSPKEVPGTEDRAGKQKFKSPMNTSWCSFNTADWVLPGKKMGNLSQLSSGEDKWLLRKKAQEVLLNSPLQEEHNFPPDHYGLPAVCDLFACMQLKVDKEKWLYRTPLQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGESPVPLTRADGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS* 11CO007 ENSG00000100345.22 ENSG00000100353.18 -/- -/- chr22:36348904 chr22:36512602 CDS/splice-site CDS/splice-site duplication 2 3 0 50 497 high in-frame . Myosin_N-terminal_SH3-like_domain(100%),Myosin_head_(motor_domain)(100%)|Eukaryotic_translation_initiation_factor_3_subunit_7_(eIF-3)(100%) . . ENSG00000100345.22 ENSG00000100353.18 ENST00000216181.11 ENST00000216190.13 upstream downstream . ^(GCAGATCACCGCGGTTCCTGGGCAGGGCACGGAAGGCTAAGCAAGGCTGACCTGCTGCAGCTCCCGCCTCGTGCGCTCGCCCCACCCGGCCGCCGCCCGAGCGCTCGAGAAAGTCCTCTCGGGAGAAGCAGCGCCTGTTCCCGGGGCAGATCCAGGTTCAG___GTCCTGGCTATAAGTCACCATGGCACAGCAAGCTGCCGATAAGTATCTCTATGTGGATAAAAACTTCATCAACAATCCGCTGGCCCAGGCCGACTGGGCTGCCAAGAAGCTGGTATGGGTGCCTTCCGACAAGAGTGGCTTTGAGCCAGCCAGCCTCAA)GGAGGAGGTGGGCGAAGAGGCCATCGTGcAGCTGGTGGAGAATGGGAAGAAGGTGAAGGTGAACAAGGATGACATCCAGAAGATGAACCCGCCCAAGTTCTCCAAGGTGGAGGACATGGCAGAGCTCACGTGCCTCAACGAAGCCTCGGTGCTGCACAACCTCAAGGAGCGTTACTACTCAGGGCTCATCTAC|CACTGTAATGGCGTTGACTGGCGTCAGAAGCTGGACTCTCAGCGAGGGGCTGTCATTGCCACGGAGCTGAAGAACAACAGCTACAAGTTGGCCCGGTGGACCTGCTGTGCTTTGCTGGCTGGATCTGAGTACCTCAAGCTTGG___TTATGTGTCTCGGTACCACGTGAAAGACTCCTCACGCCACGTCATCCTAGGC(ACCCAGCAGTTCAAGCCTAATGAGTTTGCCAGCCAGATCAACCTGAGCGTGGAGAATGCCTGGGGCATTTTACGCTGCGTCATTGACATCTGCATGAAGCTGGAGGAGGGCAAATACCTCATCCTCAAGGACCCCAACAAGCAGGTCATCCGTGTCTACAGCCTCCCTGATGGCACCTTCAGCTCTGATGAAGATGAGGAGGAAGAGGAGGAGGAAGAAGAGGAAGAAGAAG___AGGAAGAAACTTAAACCAGTGATGTGGAGCTGGAGTTTGTCCTTCCACCGAGACTACGAGGGCCTTTGATGCTTAGTGGAATGTGTGTCTAACTTGCTCTCTGACATTTAGCAGATGAAATAAAATATATATCTGTTTAGTCTTTC)$ MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVqLVENGKKVKVNKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLKERYYSGLIY|HCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET* 11CO007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 2 0 267 39 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO008 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 37 39 0 331 118 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(6),mismatches(3) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAG)CGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCgAGcGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAATCCCA MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSsAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO008 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 30 13 1 51 48 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) CCGCCTCAAGGCGCAaTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCC(AGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO008 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 27 9 0 264 82 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___ACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO008 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 13 13 1 41 39 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(4),inconsistently_clipped(1),mismappers(2) CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAG(AGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO008 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 10 12 0 27 96 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(1) AGGCAACGCGCTGGTGTGGGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGG(AATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO008 ENSG00000135540.11 ENSG00000235142.10 -/- -/- chr6:138499233 chr6:106749788 CDS/splice-site exon/splice-site deletion 8 5 0 13 18 high out-of-frame . . . . ENSG00000135540.11 ENSG00000235142.10 ENST00000343505.9 ENST00000669268.1 upstream downstream duplicates(1) ^(AGGTTCAAGGACTGTTAATGGTTTGTAACTGCCTGACAATAAACTCAACCTCAGTTACATC)AGCCTGGGCAGATGTCTAAGGATATGAGACCGGGGGAAGAAAAAGTTAGAATCTGTAGCAGAAGGACGAAGCTTGCCACCTGCCTACTGGGCTGAGCTTTTAATGTGATTTACATTTCTAAGCTCTATGTAGGTGCCCTGGAAATGGTGGTCTTCATTAATGCAAAGATTAAGTCTTTAATTAAACTTTTTAAGAAGAAAA|GGCAAGTAGAGCTGCAGCTGTCTGGCGCCACTGTAATGCTGTCTCCTCCTCTGAGTGAGTTCATCCTGGAAACATTTTCTCCCATAAGACATGCACAGGT(CTTACGTTTACATGTTTCACTGAAAGAAATTTGATTCCACTGCTGGGATGACAAG___GAAGACTGAAGAAACCTAATCCTAGGTGCTGCCACTGGGACAAACAAGAAGCACCAGACACAGTGCTGTTTTAGGGTGGGGCAGAATTATGCTGAGGGAAAAGTTATTATCACTCTTTAAGGCCAAGGAAACCACAATTTTTAAAGAAGCTTCTAGAAATTCTACCCAGTAGAAAATAAAGATAAACTTCTGTAAGGAATTTCATTCTTTTCAGAATTCGCAATCTGAAATGTAGAAGCCCATTCCTTCATGGTTCTCATAGATATTTAGTGTGACTGAGGGGTCAGTGGACTCATAGCACTCAGGCCAGGCTTCTCCTGAGTCCCTTTCTTTGGCACAGAGGGAGTGATTCACAGATCCTCTACCCCCAAAGGCATTGTTTCCTCATCTCAACAAGAATCCAGCACCCGTCATTTTATCAGCACACGTCACTAGCTTCTCAAGTGAGACTACTCTGAAGTGATCTGTGTTTGAAGAATGCCTTTCCCTTTCCCTTACGTAACTAAGAGGATGAAAAAGGACACTCACTCCCTATATGAAAGCTGTGTATTGTAAGCAGTCATCTTGCCTGGCTGAGAACTCTAGGATCTTTTTCTCTGCTCTCCTTTAGGCTGACACTCATAGCCAGACCTTCTGTTTATTAGCCCCCTGAATCTATTTGAAAATATTTTTGCTTTCATTATAATATAAGTCACATTCTTCTTGCATCTGCCGCTGCATTTTCCAAAAGGGTTATGTCAAGGGAAATTCAACACTCACTTTTCTCATTATTTGCTTACCAGCTTGCTCACTCATCAAAATACCAGAGTTATTTGATACTTCAGAAGATTATTTCCCCCTTTAGATGATGTGTCAAGGGAAGGGGAGCTGGCCCCAGTATCAGGTGACAGAATTTTCTTCGCATTTCTACTGTTGACTCAATAAATGCCCTTGGGCAAGTCA)$ MVVFINAKIKSLIKLFKKK|rqvelqlsgatvmlspplsefiletfspirhaqvlrlhvslkei* 11CO008 ENSG00000181666.18 ENSG00000181666.18 +/+ +/- chr19:37318186 chr19:37320783 5'UTR/splice-site intron inversion/3'-3' 7 6 0 31 38 high . . . . . ENSG00000181666.18 ENSG00000181666.18 ENST00000544914.5 . downstream downstream duplicates(2) ^(GGGTCTGCAGATGGCGTCCGAGTGCACA)GTGGCCAGTGTGATTCCGCAGTCTTGGGCTGTTCGGCCAAGCGCCCACCGGACGTGGGACGCTGGAGGGTCAGCAGCGTGGAGTCCTGGCCTTCAGCGTCCGCGGCTGGGAAATCGGCCATCGCCACGGCGGGAACTAGGACTGGCTGCGTCCCGGCCCTTCCCCATCCGTCCACCGGACTCGTGGGCGCCCGCACTGACTGTGATGTAGTTTCCTGACCTCTGACACGTATTGTCTCAAGATTAAAG|GCTGTAAGGAAGTCAAGGCCATATGGAAACACTACATGTAGGGACTCAGTCCCAGCTGAGCCCCCTCTTCCAACATCCCAAGCCAGGTATCAGATGTGAAGGAACAAGCCTCCAGATGGTTCCAGACCCCAGCTGTTGAGTCTTCTGTGCTGAGGCCAGACATCACGGAACAGAGACAAGTGGGCTACCCTTGTGCCATGTCTGAAATCCTGACTATAAGCATGAGAATCCAC . 11CO008 ENSG00000133195.11 ENSG00000227036.8 -/- -/- chr17:72947752 chr17:72325946 CDS/splice-site exon/splice-site deletion 2 1 0 50 7 high out-of-frame . . . . ENSG00000133195.11 ENSG00000227036.8 ENST00000255559.7 ENST00000650602.2 upstream downstream . ^(GAAGTGACTGCGGGAGTGGAGCCGGCGAGAGAGTGGCAGCGGGGGCTGATGGAAGTGCAGTGGGGGCTGGAGAGGGCACCCTA___CTGTATCCAGCATGCTCCAAGGCCACAGCTCTGTGTTCCAGGCCTTGCTGGGGACCTTCTTCACCTGGGGGATGACAGCAGCTGGGGCAGCTCTCGTGTTCGTATTCTCTAGTGGACAG___AGGCGGATCTTAGATGGAAGTCTTGGCTTTGCTGCAGGG___GTCATGTTGGCAGCTTCCTATTGGTCTCTTCTGGCCCCAGCAGTTGAGATGGCCACGTCCTCTGGGGGCTTCGGTGCCTTTGCCTTCTTCCCTGTGGCTGTTGGCTTCACCCTTGGAGCGGCTTTTGTCTACTTGGCTGACCT)CCTGATGCCTCACTTG___GGTGCAGCAGAAGACCCCCAGACGgCCCTGGCACTGAACTTCGGCTCTACGTTGATGAAGAAGAAGTCTGATCCTGAGGGTCCCGCGCTGCTCTTCCCTGAGAGTGAACTTTCCATCCGGATAG|ACCCATGCAGGAGACCTCTCCAGGTACACATATTTCCTGCTACTGAATGGCTTAGACTGGGATTTGCAAGGAACTACGAAGTCCAAGACCTTTGCCTTTCTTTTAGAAGAAGGCACCAGCTGGTTCTCCAATGTTGAAGGTCTTCTCCAGAGAT___GAACTCTGAAAGCCACATGTTGAGATGGCCC(CATTACAGGATGGAGAGCACCTGAACCCCCAAGTTATGGACTAGAAGAAGACAGTTGCCCTGGAAAATCATCTGACCCACATTGGACTTTATGTGAGGGGGAAATAAACCTTTATTATGTTAAGCTACACAATAATAAATAACAACAATAA)$ MLQGHSSVFQALLGTFFTWGMTAAGAALVFVFSSGQRRILDGSLGFAAGVMLAASYWSLLAPAVEMATSSGGFGAFAFFPVAVGFTLGAAFVYLADLLMPHLGAAEDPQTaLALNFGSTLMKKKSDPEGPALLFPESELSIRI|dpcrrplqvhifpatewlrlgfarnyevqdlclsfrrrhqlvlqc* 11CO008 ENSG00000259075.6 ENSG00000246363.3 -/- -/- chr12:89525120 chr12:89123075 CDS/splice-site exon/splice-site deletion 1 1 0 174 5 high out-of-frame . . . . ENSG00000259075.6 ENSG00000246363.3 ENST00000548729.5 ENST00000549278.2 upstream downstream . ^(ACTTCCTGACATCAAACCAGGGAGAACGCGAGTGTTAGTTAACATGGCTTGGTGTGTGGCCACAGCTGACCCGGCGCATACCTCCCGTCCTCTCTTTACAGGGCTGGCGGTGTCTCGGGGCTCGGCTGGCCATGCCTGGAGCGCGGGGTTTGACTGGGCCGCCGTTGTTGTAGTGACCGGGAGGCGCTGCCGCTCTGGGCAGACGGTTCCGGGAGCCGCACGGTCCCCTCTCCTTCCCCATCCTCTCCCCTCCCCTCTCCGGGTTCCCCCACCCACAGGAGCCTTGGGCCGACCACTCCCCCGATGGCCTCAGCCACG___)GAGGACCCCGTTCTGGAGCGTTATTTCAAAGGCCACAAAGCTGCGATCACCTCCTTGGACCTCAGCCCCAACGGCAAGCAACTTG|GCCATATCCAGTAACAGAGTCTACTGCATCATATTAACTGATAAACCCAGGATGACAAGAGAAACATGGGACTCACTCTTCATTTGCATTGACTCCAG(CTAAGAGCTTCAGTTTTCATGCTTTGCTTCAGAATTATTG___TGGTCTGATGCAGAACTGAAAAGGCCAACACGAGAATCTTCAAGTACAATTGCCTGGGAATCCTGAGGTCTGGACAGCAACACCTGAATCTGAATCTCTTTTGGGTTGAATCATAAAAGAAAATAGTATGGAGAGATTTAAGGCCAGGCCTCTGGAGAAGG___AATTGATAAAATATGTGGTAGTACCTGCGCTACAGAACAGAATTCACTTGGAAGTTCTTGGCATATAGTAAGCACTCAGTAACTGTCAGTTATCGCTCTCATCTCTATGAAGACTGTATTTGACATGACATCATCTCCATAAGATTCCTGAACTCAACTTTATTTCCTCTTTTTTCCTTTAACCCCAATTTTCTAATACCAATTAGTAAGGTGGCTTCCTCTCCTTCTGGACTTGCTACTCCCAGAAGGAAATTAAATTACAAGTCTCTAATTCCCTAGGCATTCCCTTGTAGCCAAAGTCATTAATCAGTGGCTCATATTTAAAAAAATTGCTCTAGGCCTCTGGAGACTCTTTCTATGGCATAATAGATTTTCATTTGTTTCTCATCCCCTGAGTAGCTTTTAATTCAGGATGGATATTTGCCCTGCAATTTCTTTTATTCCCTGGATAATTTGAAAAGCCAGGGGAACAGTGTCACTTTGTCTTATCCCTTCCCTCTTTATTAGTCAGTCTGTTCTAACAAAATGTTGGTTGGTCCACGCTTTTCATGGAATGTCATGGTTAACTGATAAGCTGCCCCCAAACTCGGTATCCTGGTTTAATGTTATAATCATAATGCCCTCTGAGATCACTTAGAGAAAAGCTGAGGGTAGCAACTCTGTGGATTCTTATTTACCTTATGCGTTTGACATCTGCAATGATGTGCTTCTTTACCACCTCCCTCATCAAATTAAACTAAGAATGAAAACAGATGGGCTGGGAAGCCAGTGGATCAAAAGAAGGACCTGGGGGAAGCTCAGCTTGGGGACCGGCTTGCTCTTTGCCCTCACTATTTGTCAACTGGGAATCTCCTGGGTGCTCAGCTGTGCTGGAATCTCAG___ATGAGTAAATTGAAGCCCAGAAAGGCCAAGAAACTTGAACCATTTA___GGTGAAGAAGAGTGCTCACCAGATTCCCTTCTGGTCTGGAAAAAGAAATCCCTTCTTTTGTGGATGTCATCTCTACCATCTCTCGGTGAAAAATATTTCAAGAGAATCCTAAGATGGAGAGAGCATTGGAAGTCATCCGGCCCAATTCCCTTGTGCAATTCAAAGCTTCTTTGTAAG___AAAAATGCCCCCAGAAGTTTGTTTGCATCATGAAGATCAGATTTTGAGGATCCAGTCTGGCTCTTCCCTGTACAAAACATTCCTCACAAACAGAATATGGACAATTGTTAAATGTCAAAGGTAAAGTTATTGTGGGAACTCCTTCAAAAAGTTCAAGTGAGAGCCCATTCTATGAATGACCATTTACATCTAATTTTTTTCTGTGCTATGTTACTTATTCTGAAGTGGTTGATCCAATTCCTAAAAGGGAATATTTCATTACCTTTTATTTCCTATAGCATCCATTCTGACCCCTTTTCGGTTTAATTATTCCCTGATTCCAGTCTTCATTCACTCATTTATTTGAGGAATATTTATTGACCAACAACTATGCCAGGTCCCATTCTATGTGTAGGGACTATAAAGTTGAACAAGACAGAGGAGGTACTGGCCTCAGAATTTACATTCTAGTAGATGAGAAAGTAAAAATAAACACATGAAAACATGAATGAACCGGATATTGTAGACTGTGATAGGTGTAGTTTGGGTAAAGCACAGAGTGCAGTAGTAAAGATAAACTGCACTCAGAGTGGGGCTATTTTAGATGGAATGGAGATCTCTGAGGAAATGAAATTTGAGCTGAGACCTAAAAGGTCACCCAAGGACTCATGGGAAAACTCAGTTGTTTCTATCAAAATTTAGCTTCATGAACTCCAGGCCCTTGCAAATGATGGTTACCAGGTGAGAAATGTCTCACTGGCAACAGAGGTTGGCAGACCCAGCTCCAGTTCCATCCCAGCCAACATACCAATGTCATTAAAATAAGGCCATTCATCAAGGTGGAGACTATTACTAGAAACAAGCATTCTAAAGTGCCATTTGAGTGCCAGGCTCTCAACACTGGGCGTAGCACTGCTCCATGAGGCTTTTGAGAGCATATACTGAGGCATGACCAAAAAAATTAAGTCCCATGTAAGTGATGCAACTGCTCCCCAATTACTGTGGAAGTATCTGCAGACTAACTATTGTGCGTGTGTGTTTGTTTGCTTTAATGAATAAATTCAGTCAACCAACCATCTAGCTATTGACTAAATCCATTCTTTTTCTTCCAAAATGTCTATTGGCTGAAGTTTACTGGTTTTTATTTCTATTCGCATACGTAATTTTCTAAACCCCATTCTTATGGAACCTTCTCTAAGTTCCTCTCTATGGCCCTGTCCATGTTCATACGGATACACATAAAGACACAAATACACCAAACTAAGTTTAGAGCAGTCTGGTGCCTGCCTAAGACTTCAGCCTCATCTCCTGCTTCTACCCTCTTTAGTTTAGGAAAAACAGGTAACGTTGCTGAGTGCCAAGTATTGTGTTAGTAGCTTTGCATGCATTTTTTCATTTTATCTTCACAAGTTTCTTCTATCACCATGATCTGTATGTTTGACCATGGTGTTTCCTCCACCTGAAATTCCCTTGGTGCTCTGCCTGGGGAACTGTTACTCATTCTTCAAATCTCAACGGAATGATCTCCTCCTCTGGAAAGCTCTCCCTACTTCCCTAGGAAGAAGTAATCCCTTCCTCAGTTCTGCTTTGATTATAACTTTATAAGCACCTATCACTCTGCATGGTATTAGTTCACTGTCATGTCCATTTCCTCTATTGGGATGTAAATTGCTTATGGGTAATAATTAGGCTTTGAATCATTTTATGATCTGGCCTAAGACAGTGCTTGGCACATACTATAGGCTCATCAGATGATGGCTGAGTAGAATTAAATTGAATCAAGTTGAAGTTATACTTTGATGTTTATCAATTAACATGTGTAGTGTGTTAAATGGTGGTCACTGAAAACATACGTCTGCACCCTAATTCCTGGAACCTGTGAATATAACCTTACATGTTAAGAAGAAATATGACCTTAAATGGATATGGAGACAAGGAGCTTATCCTGGATTGTCTGAGAGGGCCCTAGATGCAATCGCATGTATTCTGATAAGTGGAGAGAAACAGAAGAGGAGGATGCAATGTGACCATGTAGGCAGAAGTTTGAATGGTGCAGCCACAAGCCAAGGAGCCCCTGGGGCCATCAGAAGCTGGAAGAAGCAAGGAATGGATTCCTTCCTAGTGTTTGGAAGGAGTGTGCACTTGCCAACACCTTGGTTTGAGACTTCTGGCCTCTGGAACTGTGACAGAATAAATATCTGTTGTTTTGAGCCACCCAATTGTTGCTAATTTGTTAAAGCAACCTTAGAAAATTAATATAGCATCCACAATAAAATTTCTCAAAATATATGTTCCTGTGAAATGGAAGAGTTCTAGGGATCTAGTAGCATATACGGAACCCAGATAAGTTATACAAGTTTTTCCCTGAAAGTCTTTTCAGATTCTTTAGCGGGCTAAGGTGCATTGTGAATCCCAAAAACTTTAGCGTTTTTCAGCATCTATTATCACATAATCCTTTCCCCACCCATGGAATTATATACTAAACTGTTTTTGTAGATGTTGATGTTCTGTAGAACAGAGTTTTGGGGTCTGTATGACTTAAGATCCTTCTACAATGGAACACAGTGAGGAGGGTATTCAGAGGAGTCATAGAGGGCATTGATCTTGCAATATATACTCAGGAAATTACCATGGGCAG)$ MASATEDPVLERYFKGHKAAITSLDLSPNGKQL|ghiq* 11CO008 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 7 12 0 25 38 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(3),mismatches(2) GCCATGGCGAGGGCCGGGcGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCGAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCgGTGCCCTTGGTGCCCTGGCgGCCTAGAGAGCCgCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCT(GCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 11CO008 ENSG00000139323.14 ENSG00000246363.3 -/- -/- chr12:89525120 chr12:89123075 CDS/splice-site exon/splice-site deletion 1 1 0 174 5 medium . . WD_domain__G-beta_repeat(100%)| . . ENSG00000139323.14 ENSG00000246363.3 ENST00000393179.8 ENST00000549278.2 upstream downstream . ^(TCTCGGAGGGTTTCCGTGGAGCGCCTGCGTCAGAATCACCTAGGAAGTATTAAAAAAAAAAAAAGTACCAAAGCCGAGGCGCATCCTCGCACCTGCCTGCCTTGGGCCAGCGGGCGGGGCCCGGGAACGTGCATTTCAAAGGGGCCGCGGTTCCTGCGATGCGCTGGACTCTGGGAAGCGCGAACAGAGCGTTTTGCGGGCTCTGCGGGGAGAGCTGGCGCCGGCGTCTCCCTGTAGCAGGACTGGGCGCCGCGCCCGTGGGTGGGCTGCTGCCCGGCCCCGCCGCCCAGCCAAGCCGCCGCCTGGGTGGCCATTCCCAAGCCGGACTCCGGGGAAGTGGCAGCGTGGATCCCAGCCGCCAGAATTCGAGGTCTGCGGCGGCTTTCAAAACTTGACAACTTTCCTTTCCA)GGAGGACCCCGTTCTGGAGCGTTATTTCAAAGGCCACAAAGCTGCGATCACCTCCTTGGACCTCAGCCCCAACGGCAAGCAACTTG|GCCATATCCAGTAACAGAGTCTACTGCATCATATTAACTGATAAACCCAGGATGACAAGAGAAACATGGGACTCACTCTTCATTTGCATTGACTCCAG(CTAAGAGCTTCAGTTTTCATGCTTTGCTTCAGAATTATTG___TGGTCTGATGCAGAACTGAAAAGGCCAACACGAGAATCTTCAAGTACAATTGCCTGGGAATCCTGAGGTCTGGACAGCAACACCTGAATCTGAATCTCTTTTGGGTTGAATCATAAAAGAAAATAGTATGGAGAGATTTAAGGCCAGGCCTCTGGAGAAGG___AATTGATAAAATATGTGGTAGTACCTGCGCTACAGAACAGAATTCACTTGGAAGTTCTTGGCATATAGTAAGCACTCAGTAACTGTCAGTTATCGCTCTCATCTCTATGAAGACTGTATTTGACATGACATCATCTCCATAAGATTCCTGAACTCAACTTTATTTCCTCTTTTTTCCTTTAACCCCAATTTTCTAATACCAATTAGTAAGGTGGCTTCCTCTCCTTCTGGACTTGCTACTCCCAGAAGGAAATTAAATTACAAGTCTCTAATTCCCTAGGCATTCCCTTGTAGCCAAAGTCATTAATCAGTGGCTCATATTTAAAAAAATTGCTCTAGGCCTCTGGAGACTCTTTCTATGGCATAATAGATTTTCATTTGTTTCTCATCCCCTGAGTAGCTTTTAATTCAGGATGGATATTTGCCCTGCAATTTCTTTTATTCCCTGGATAATTTGAAAAGCCAGGGGAACAGTGTCACTTTGTCTTATCCCTTCCCTCTTTATTAGTCAGTCTGTTCTAACAAAATGTTGGTTGGTCCACGCTTTTCATGGAATGTCATGGTTAACTGATAAGCTGCCCCCAAACTCGGTATCCTGGTTTAATGTTATAATCATAATGCCCTCTGAGATCACTTAGAGAAAAGCTGAGGGTAGCAACTCTGTGGATTCTTATTTACCTTATGCGTTTGACATCTGCAATGATGTGCTTCTTTACCACCTCCCTCATCAAATTAAACTAAGAATGAAAACAGATGGGCTGGGAAGCCAGTGGATCAAAAGAAGGACCTGGGGGAAGCTCAGCTTGGGGACCGGCTTGCTCTTTGCCCTCACTATTTGTCAACTGGGAATCTCCTGGGTGCTCAGCTGTGCTGGAATCTCAG___ATGAGTAAATTGAAGCCCAGAAAGGCCAAGAAACTTGAACCATTTA___GGTGAAGAAGAGTGCTCACCAGATTCCCTTCTGGTCTGGAAAAAGAAATCCCTTCTTTTGTGGATGTCATCTCTACCATCTCTCGGTGAAAAATATTTCAAGAGAATCCTAAGATGGAGAGAGCATTGGAAGTCATCCGGCCCAATTCCCTTGTGCAATTCAAAGCTTCTTTGTAAG___AAAAATGCCCCCAGAAGTTTGTTTGCATCATGAAGATCAGATTTTGAGGATCCAGTCTGGCTCTTCCCTGTACAAAACATTCCTCACAAACAGAATATGGACAATTGTTAAATGTCAAAGGTAAAGTTATTGTGGGAACTCCTTCAAAAAGTTCAAGTGAGAGCCCATTCTATGAATGACCATTTACATCTAATTTTTTTCTGTGCTATGTTACTTATTCTGAAGTGGTTGATCCAATTCCTAAAAGGGAATATTTCATTACCTTTTATTTCCTATAGCATCCATTCTGACCCCTTTTCGGTTTAATTATTCCCTGATTCCAGTCTTCATTCACTCATTTATTTGAGGAATATTTATTGACCAACAACTATGCCAGGTCCCATTCTATGTGTAGGGACTATAAAGTTGAACAAGACAGAGGAGGTACTGGCCTCAGAATTTACATTCTAGTAGATGAGAAAGTAAAAATAAACACATGAAAACATGAATGAACCGGATATTGTAGACTGTGATAGGTGTAGTTTGGGTAAAGCACAGAGTGCAGTAGTAAAGATAAACTGCACTCAGAGTGGGGCTATTTTAGATGGAATGGAGATCTCTGAGGAAATGAAATTTGAGCTGAGACCTAAAAGGTCACCCAAGGACTCATGGGAAAACTCAGTTGTTTCTATCAAAATTTAGCTTCATGAACTCCAGGCCCTTGCAAATGATGGTTACCAGGTGAGAAATGTCTCACTGGCAACAGAGGTTGGCAGACCCAGCTCCAGTTCCATCCCAGCCAACATACCAATGTCATTAAAATAAGGCCATTCATCAAGGTGGAGACTATTACTAGAAACAAGCATTCTAAAGTGCCATTTGAGTGCCAGGCTCTCAACACTGGGCGTAGCACTGCTCCATGAGGCTTTTGAGAGCATATACTGAGGCATGACCAAAAAAATTAAGTCCCATGTAAGTGATGCAACTGCTCCCCAATTACTGTGGAAGTATCTGCAGACTAACTATTGTGCGTGTGTGTTTGTTTGCTTTAATGAATAAATTCAGTCAACCAACCATCTAGCTATTGACTAAATCCATTCTTTTTCTTCCAAAATGTCTATTGGCTGAAGTTTACTGGTTTTTATTTCTATTCGCATACGTAATTTTCTAAACCCCATTCTTATGGAACCTTCTCTAAGTTCCTCTCTATGGCCCTGTCCATGTTCATACGGATACACATAAAGACACAAATACACCAAACTAAGTTTAGAGCAGTCTGGTGCCTGCCTAAGACTTCAGCCTCATCTCCTGCTTCTACCCTCTTTAGTTTAGGAAAAACAGGTAACGTTGCTGAGTGCCAAGTATTGTGTTAGTAGCTTTGCATGCATTTTTTCATTTTATCTTCACAAGTTTCTTCTATCACCATGATCTGTATGTTTGACCATGGTGTTTCCTCCACCTGAAATTCCCTTGGTGCTCTGCCTGGGGAACTGTTACTCATTCTTCAAATCTCAACGGAATGATCTCCTCCTCTGGAAAGCTCTCCCTACTTCCCTAGGAAGAAGTAATCCCTTCCTCAGTTCTGCTTTGATTATAACTTTATAAGCACCTATCACTCTGCATGGTATTAGTTCACTGTCATGTCCATTTCCTCTATTGGGATGTAAATTGCTTATGGGTAATAATTAGGCTTTGAATCATTTTATGATCTGGCCTAAGACAGTGCTTGGCACATACTATAGGCTCATCAGATGATGGCTGAGTAGAATTAAATTGAATCAAGTTGAAGTTATACTTTGATGTTTATCAATTAACATGTGTAGTGTGTTAAATGGTGGTCACTGAAAACATACGTCTGCACCCTAATTCCTGGAACCTGTGAATATAACCTTACATGTTAAGAAGAAATATGACCTTAAATGGATATGGAGACAAGGAGCTTATCCTGGATTGTCTGAGAGGGCCCTAGATGCAATCGCATGTATTCTGATAAGTGGAGAGAAACAGAAGAGGAGGATGCAATGTGACCATGTAGGCAGAAGTTTGAATGGTGCAGCCACAAGCCAAGGAGCCCCTGGGGCCATCAGAAGCTGGAAGAAGCAAGGAATGGATTCCTTCCTAGTGTTTGGAAGGAGTGTGCACTTGCCAACACCTTGGTTTGAGACTTCTGGCCTCTGGAACTGTGACAGAATAAATATCTGTTGTTTTGAGCCACCCAATTGTTGCTAATTTGTTAAAGCAACCTTAGAAAATTAATATAGCATCCACAATAAAATTTCTCAAAATATATGTTCCTGTGAAATGGAAGAGTTCTAGGGATCTAGTAGCATATACGGAACCCAGATAAGTTATACAAGTTTTTCCCTGAAAGTCTTTTCAGATTCTTTAGCGGGCTAAGGTGCATTGTGAATCCCAAAAACTTTAGCGTTTTTCAGCATCTATTATCACATAATCCTTTCCCCACCCATGGAATTATATACTAAACTGTTTTTGTAGATGTTGATGTTCTGTAGAACAGAGTTTTGGGGTCTGTATGACTTAAGATCCTTCTACAATGGAACACAGTGAGGAGGGTATTCAGAGGAGTCATAGAGGGCATTGATCTTGCAATATATACTCAGGAAATTACCATGGGCAG)$ . 11CO010 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 39 30 1 86 98 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(9),low_entropy(1),mismappers(1),mismatches(4) GGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGggGGG...GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO010 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 25 0 40 122 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismatches(1) GTCCTCTGGCGGAcTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCaGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCcGCGGAGCGcCCCCGCCCCaCCaCTCCCCTACGACGCCCACGCGCTCGGAaGcGGCTTGTTC...GCAGCAGCaGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAG(GATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO010 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 13 12 0 38 33 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),inconsistently_clipped(1) CCCAGAGCTTCAAACTGGTGAGCCGAG___...GATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCT(CTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO010 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 2 12 0 17 41 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(1),mismappers(1) CCTCCTCCCGGCTCCCCGGCGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGA(GCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11CO010 ENSG00000173575.22 ENSG00000249815.1 +/+ -/- chr15:92956649 chr4:111829050 CDS/splice-site exon/splice-site translocation 6 7 0 46 24 high out-of-frame . Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),SNF2_family_N-terminal_domain(100%)| . . ENSG00000173575.22 ENSG00000249815.1 ENST00000394196.9 ENST00000511219.1 downstream downstream duplicates(1) ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA___AGAAAAATGGAAACAGGAACCCTCAGAAGATGAACAGGAACAAGGCACCAGTGCAGAGAGTGAGCCAGAACAAAAAAAAGTAAAAGCCAGAAGACCTGTCCCCAGAAG___AACAGTGCCCAAACCTCGTGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAGCAAGATTCTTCTGATGAGGATGATGATGATGACGAAGCTCCCAAAAGGCAGACTCGTCGAAGAGCGGCTAAAAACGTTAG___TTACAAAGAAGATGATGACTTTGAGACTGACTCAGATGATCTCATTGAAATGACTGGAGAAGGAGTTGATGAACAGCAAGATAATAGTGAAACTATTGAAAAGGTCTTAGATTCAAGACTGGGAAAGAAAGGAG___CCACTGGAGCATCTACTACTGTATATGCGATTGAAGCTAATGGCGACCCTAGTGGTGACTTTGACACTGAAAAGGATGAAGGTGAAATCCAGTACCTCATCAAGTGGAAGGGTTGGTCTTACATCCACAGCACATGGGAGAGTGAAGAATCCTTACAGCAACAGAAAGTGAAGGGCCTAAAAAAACTAGAGAACTTCAAGAAAAAAGAGGACGAAATCAAACAATG___GTTAGGGAAAGTTTCTCCTGAAGATGTAGAATATTTCAATTGCCAACAGGAGCTGGCTTCAGAGTTGAATAAACAGTATCAGATAGTAGAAAGAGTAATAG___CTGTGAAGACAAGTAAATCTACATTGGGTCAAACAGATTTTCCAG___CTCATAGTCGGAAGCCGGCACCCTCAAATGAGCCCGAATATCTATGTAAATGGATGGGACTCCCCTATTCAGAGTGTAGCTGGGAAGATGAAGCCCTCATTGGAAAGAAATTCCAGAATTGCATTGACAGCTTCCACAGTAGGAACAACTCAAAAACCATCCCAACAAGAGAATGCAAG___GCCCTGAAGCAGAGACCACGATTTGTAGCTTTAAAGAAACAACCTGCATATTTAGGAGGGGAGAATCTGGAACTTCGAGATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATTCCTGGTGCAA___AAATAATAGTGTAATCCTTGCTGATGAAATGGGCCTAGGAAAGACCATCCAGACCATATCATTCCTCTCCTACCTGTTCCACCAACACCAGCTGTATGGCCCCTTTCTTATAGTCGTCCCTTTATCCACCCTCACCTCATGGCAGAGAGAGTTTGAAATCTGGGCACCAGAGATTAACGTAGTGGTTTACATAGGTGACCTGATGAGCAGAAATACG___ATACGGGAATATGAATGGATTCATTCCCAAACCAAAAGATTGAAGTTCAACGCACTTATAACAACATATGAGATCCTCTTGAAAGATAAG___ACTGTGCTGGG)CAGTATTAACTGGGCCTTTCTGGGAGTGGATGAAGCCCATCGGTTGAAGAATGATGACTCTTTATTGTATAAAACTCTGATTGATTTCAAGTCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGTCCTTGCTGCACTTTATTATGCCGGAGAA|GAATCATGTTTTTCCCGGGATGTCAAAGATAAACTGGAGTTTCAATCTTGCTATCTTAACAAGAACAGAGGGAGAACAAAGAATAAAACAAGAAAATAAAGCTGACTATATTAAAAGAACAGAG(___ACTATGGAAATGATGTTAGACAAAAAACAAATTCCAGCAATTTTCTTATTTGAGTTCAAAATGGGTCATAAAGCAGTGAAGACAACTTGCCACATCAACAACACATTTGGCTCAGGAACTGCTAACAAATGTACAGTGCAGTGGTGGTTCAAATTTTGCAAAGGAGACAAGAGCCTTGAAGATGAGGAGCATAGTGGCTGGCCATCAGAAGTTGACAAAGACCAAATGAAAGCAATTATCGAAGCTGATTCTCTTACAACTACTCAAGAAGTTGCCGAAGAACTCAATGTCGATCTTTCTACAGTAGTTTGGCATTTGAAGCAAA)$ MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRRAAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEKDEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDVEYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGLPYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVVPLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILLKDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLLHFIMPEk|nhvfpgmskinwsfnlailtrtegeqrikqenkadyikrtetmemmldkkqipaiflfefkmghkavkttchinntfgsgtankctvqwwfkfckgdksledeehsgwpsevdkdqmkaiieadsltttqevaeelnvdlstvvwhlkq 11CO010 ENSG00000173482.16 ENSG00000264475.1 +/+ +/+ chr18:7567891 chr18:7079320 CDS/splice-site exon/splice-site duplication 5 3 0 16 12 high out-of-frame . . . . ENSG00000173482.16 ENSG00000264475.1 ENST00000332175.12 ENST00000581502.1 downstream upstream duplicates(1) ^(GCGGCGTAGAGAAGCTCGCAGCCCTCCGGAGCCTCAGCGATCTCCTGGCTCGCTTTTCCCGCAGCCGCCGAGCAGCGCAGGCCCGGCGACTCCGGGTGCAGCTGGCCCTGTGCGGTGACATCGCCGTCCGGCGCCAGGCTCGAAGCCGCCTGGCCGCGCCCGCGGGGTCGCAGGCCGCTGGTCCCGCCCGGCCGCGCTCACAAACTACTCGCGGCTCGTGACCCGGGACAAACTTCTGGCGGCGGCGCAGCCTCTTCCACAGTCACCCTCCCCAGAGCCAGCTACCAAAATAGAAGACGCGGCCGGGGCGAGGAGGTGGGCGGGGGGAGCCCGGTGGCCGCTCCTCCCCGCGCGGCTGACGCCCGCTTCGGCGGCGGTAGTGGCTGTGGCCGCGGGGCCGCCCCCAGCCGAGCTCCCGGAGGCGCTCGGGCGCGGGCCGGCGGGGCACGGGCGCTCACGCCCTCTAGCGGGCCGCGGCGGCGCCGGGCGGCCGTGACGTGAGCGCTCCCTTCAGCCGGCCTGCGGGGCACCGCCAGTCAGTCGGGGAGCAAGAGCCCCGCGCGCAGCCGGCGCGGGCTCGGTCATCGGCGCGCCGCCGCCCGGGGCTGGGCTTGGGGCTGCCTGTGGAGAGGCGGCGGGCGGAACGCGCGCGGCCACGGCCACGGCCACCGCCACGGCCACGGCCGGCAGCTCGGGTCCCGGGTCCCGGGCAGGGGAAGGGGAGAGGCGGCGAGCTCAGCAACCGGAACCGAGGGAAGATTTTGGCTCCGCGGGCTCGCCCTCCGCTCCCTCTGCCAGCGGCGCCAGACGCCGAGTGGGGCCAGGGACAGGGGAGGAGGACCCAGGACCCTGTGCCCGCGCCCCTGGAGCCGCTGGAGTTCGGACTTCTGCAACTGTTGGCACTTTGGGGGCTTGGCTTAGCGCTCTGCT)GTTTACCCGTCTCTCCTCGCTGCCTCGGAACCAAAGCTCCCGGCCCCCTCCGCCCTCGCGCGCCCACCCACCGCCGCCGGGGAGCGGCCCGGCgCGCACTCAGCACCATGAGGGGACTTGGGACTTGCCTGGCGACTTTGGCCGGACTTTTGCTAACTGCGGCGGGCGAGACGTTCTCAG|GAACATCAGGGCAACTGGGGCTCATCTCATATTTCTCTCCATCCTCCTATGTGGACTTGAAGCAAG___CCAGCAAACAGCC(TGACATGATACCCTGGATGGATGAGTGTGCCCTGTTGACACAGCTTCGAAGAACATCAACCATATGGAAGCAATTTCACCCATCTCCCTGAAGACACCTGGGAATGATGAAAGTGACAAGAAATGGCACCAGGGACTCCTTCTGTATACCACTTGCCTTCACCTGGTGGAAATAGTGAGATTAGAATGTAAATGTGTTCAGAAAGAAGCCAGACTTTCCCAAAGGTCATCAGAAGACCACAGCTCAGCAGCCTGTAGACACTCTTCAATGGTTCTGGGCTCACCTACCTGTCTTAAGTCCAGAGTGATTGTGACCCAGTGATATTCTCTCCCATTCTGAATGCTGGGACTTTGCCACCAGTTATTGGTGCCATCTATGGCATGTGATATTGGATGGCGTTCTGTTGAAAGAAAATAAAAAACATGAATTCCTCTCG)$ MRGLGTCLATLAGLLLTAAGETFS|gtsgqlglisyfspssyvdlkqaskqpdmipwmdecalltqlrrtstiwkqfhpsp* 11CO010 ENSG00000143036.17 ENSG00000164107.8 +/+ -/+ chr1:94828586 chr4:173526686 CDS/splice-site 3'UTR translocation/5'-5' 2 3 1 82 33 high out-of-frame . . . . ENSG00000143036.17 ENSG00000164107.8 ENST00000271227.11 . downstream upstream . ^(AGCCCCGGCCCCGGCCCCGGCTCGCGGGCGCTGCGTCTCCGCGTACAGGAGGCGGCGGCGGCTCCCAGTCACCGGCCCCCGCCGGCGAGCGCACGATGCACTGCCTGGGCGCCGAGTACCTG___GTTTCTGCAGAAGGAGCCCCTAGGCAAAGGGAGTGGCGACCCCAGATTTATAGGAAATGCACAGATACGGCATGGTTATTCCTGTTCTTTCTCTTTTGGACTGGTTTG___GTGTTTATCATGGGCTACTCGGTGGTGGCTGGAGCCGCGGGAAGACTCCTCTTTGGCTATGACAGCTTTGGCAACATGTGTGGCAAGAAGAACTCCCCCGTGGAAGGGGCCC)CTCTTTCAGGGCAGGAgATGACCCTAAAAAA___ACACGTGTTCTTTATGAATTCCTGCAACCTGGAAGTCAAAGGTACGCAGCTCAACCGCATGGCCCTCT?TGTATCCAACTGCCCTGAAGAGCAGCTTGACTCCCTGGAAG?GGTCCAGTTCTTTGCAAACACCAGTG___GGTCCTTCCTGTGTGTTTATAGTTTGAATTCCTTCAACTAcACCCACAGTCCAAAAGCAGACTCACTGTGTCCCAGGCTACCAGTTCCTCCAAG|TTTTAGAGGACGGAAGTGCACAAAACAAGTGGCTGTTGGAAACATCTTCAAAGAGGGAACGACCACAGATGAATGGATAGCACTAGATACCGACCCCAACGGAAATGTTAGCGGCCCTGTTTTCTGCTTTGAAATAAAACTTTATAATACCC MHCLGAEYLVSAEGAPRQREWRPQIYRKCTDTAWLFLFFLFWTGLVFIMGYSVVAGAAGRLLFGYDSFGNMCGKKNSPVEGAPLSGQeMTLKKHVFFMNSCNLEVKGTQLNRMAL?VSNCPEEQLDSLE?VQFFANTSGSFLCVYSLNSFNYTHSPKADSLCPRLPVPPs|frgrkctkqvavgnifkegtttdewialdtdpngnvsgpvfcfeiklynt 11CO010 ENSG00000103671.10 ENSG00000171209.3(38663),ENSG00000145309.6(44890) +/+ ./- chr15:64425631 chr4:70290091 CDS/splice-site intergenic translocation 4 1 0 41 1 high out-of-frame . ASCH_domain(100%),Putative_zinc_finger_motif__C2HC5-type(100%)| . . ENSG00000103671.10 . ENST00000261884.8 . downstream downstream . ^(GCAGCTCAGCTGGTTCCGGCTGGGGAAGATGGCGGTGGCTGGGGCGGTGTCCGGGGAGCCGCTGGTGCACTGGTGCACCCAGCAGTTGCGGAAGACTTTCGGCCTGGATGTCAGCGAGGAGATCATTCA___GTACGTTTTGTCAATTGAGAGTGCTGAAGAGATACGAGAATATGTTACTGATCTCCTCCAGGGAAATGAAGGCAAAAAAGGTCAATTCATAGAAGAACTTATAACCAAATGGCAAAAGAATGATCAGGAGTTGATTTCGGATCCTTTGCAGCAGTGCTTCAAAAAAGATG___AAATTTTAGATGGGCAGAAATCAGGCGACCATCTAAAGCGGGGTAGGAAGAAAGGGAGAAACAGACAGGAAGTTCCTGCATTTACTGAACCTGACACGACTGCAGAGGTTAAAACACCTTTTGATTTGGCCAAG___GCACAAGAGAACAGCAACTCCGTAAAGAAGAAGACAAAGTTTGTCAATTTATACACAAGAGAGGGACAGGACAGGCTTGCAGTCCTGCTCCCTGGTCGTCACCCTTGTGATTGCCTGGGCCAGAAGCACAAGCTCATCAATAACTGTCTGATCTGTGGGCGCATTGTCTGTGAACAAGAAGGCTCAGGCCCTTGCTTATTCTGTGGCACTCTG___GTGTGTACTCATGAGGAACAAGATATTTTACAGCGTGACTCAAACAAGAGCCAGAAACTGCTAAAGAAACTCATGTCAG___GAGTGGAGAATTCTGGAAAGGTGGACATCTCTACCAAGGACCTTCTTCCTCATCAAGAATTGCGAATTAAGTCTGGTCTGGAGAAGGCTATCAAGCATAAAGACAAACTGTTAGAGTTTGACAGAACTAG___TATTCGAAGGACCCAAGTCATTGATGATGAGTCAGATTACTTTGCCAGTGATTCTAACCAATGGTTGTCCAAACTTGAGCGGGAAACCTTGCAGAAGCGAGAGGAGGAGCTGAGAGAACTTCGACACGCCTCTCGACTTTCTAAGAAGGTCACCATTGACTTTGCAGGAAGGAAGATCCTGGAAGAAGAAAATTCACTAGCAGAGTATCATAGCAG___ACTAGATGAGACAATACAGGCCATTGCCAATGGAACCTTGAACCAGCCACTGACCAAATTGGATAGATCTTCTGAAGAGCCTTTGGGAGTTCTGGTAAATCCCAACATGTACCAGTCCCCTCCCCAG___TGGGTTGACCACACAGGTGCAGCCTCACAGAAGAAGGCTTTCCGTTCTTCAGGATTTGGACTAGAGTTCAACTCATTTCAGCACCAGTTGCGAATCCAGGATCAAGAATTTCAGGAAGGCTTTGATGGTGGCTGGTGCCTCTCTGTACATCAGCCCTGGGCTTCTCTGCTTGTCAGAGGGATTAAAAG___GGTGGAGGGCAGATCCTGGTACACCCCCCACAGAGGACGACTTTGGATAGCAGCCACAGCTAAAAAACCCTCCCCTCAAGAAGTCTCAGAACTCCAGGCTACATAT)CGTCTTCTTCGTGGGAAAG___ATGTGGAATTTCCTAATGACTATCCGTCAGGTTGTCTTCTGGGCTGTGTGGACCTAATTGACTGCTTGTCCCAGAAGCAATTTAAGGAGCAG|CAGGCATTGTGGATTCAATAGGAAACAAGACAGGCCCAGTTCCTGCCGTGAGGGTATAATGATTTATTGGAAAGAG MAVAGAVSGEPLVHWCTQQLRKTFGLDVSEEIIQYVLSIESAEEIREYVTDLLQGNEGKKGQFIEELITKWQKNDQELISDPLQQCFKKDEILDGQKSGDHLKRGRKKGRNRQEVPAFTEPDTTAEVKTPFDLAKAQENSNSVKKKTKFVNLYTREGQDRLAVLLPGRHPCDCLGQKHKLINNCLICGRIVCEQEGSGPCLFCGTLVCTHEEQDILQRDSNKSQKLLKKLMSGVENSGKVDISTKDLLPHQELRIKSGLEKAIKHKDKLLEFDRTSIRRTQVIDDESDYFASDSNQWLSKLERETLQKREEELRELRHASRLSKKVTIDFAGRKILEEENSLAEYHSRLDETIQAIANGTLNQPLTKLDRSSEEPLGVLVNPNMYQSPPQWVDHTGAASQKKAFRSSGFGLEFNSFQHQLRIQDQEFQEGFDGGWCLSVHQPWASLLVRGIKRVEGRSWYTPHRGRLWIAATAKKPSPQEVSELQATYRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQ|qalwiq* 11CO010 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 10 4 1 21 457 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGT)CAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCC(CAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11CO010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 4 0 281 32 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGG)CTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTG...GTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGCATCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO010 ENSG00000103888.17 ENSG00000243967.4 +/+ +/+ chr15:80881136 chr1:108410504 CDS/splice-site exon/splice-site translocation 0 8 0 39 13 medium out-of-frame . G8_domain(100%),Interleukin-like_EMT_inducer(100%)| . . ENSG00000103888.17 ENSG00000243967.4 ENST00000220244.7 ENST00000357046.4 downstream upstream mismatches(1) ^(AAAAGCGGCCTCTCGGCTGAGGGCCGGGGAGCTAGCGCTCAAGCAGAGCCCAGCGCGGTGCTATCGGACAGAGCCTGGCGAGCGCAAGCGGCGCGGGGAGCCAGCGGGGCTGAGCGCGGCCAGGGTCTGAACCCAGATTTCCCAGACTAGCTACCACTCCGCTTGCCCACGCCCCGGGAGCTCGCGGCGCCTGGCGGTCAGCGACCAGACGTCCGGGGCCGCTGCGCTCCTGGCCCGCGAGGCGTGACACTGTCTCGGCTACAGACCCAGAG___GGAGCACACTGCCAGGATGGGAGCTGCTGGGAGGCAGGACTTCCTCTTCAAGGCCATGCTGACCATCAGCTGGCTCACTCTGACCTGCTTCCCTGGGGCCACATCCACAG___TGGCTGCTGGGTGCCCTGACCAGAGCCCTGAGTTGCAACCCTGGAACCCTGGCCATGACCAAGACCACCATGTGCATATCGGCCAGGGCAAGACACTGCTGCTCACCTCTTCTGCCACGGTCTATTCCATCCACATCTCAGAGGGAG___GCAAGCTGGTCATTAAAGACCACGACGAGCCGATTGTTTTGCGAACCCGGCACATCCTGATTGACAACGGAGGAGAGCTGCATGCTGGGAGTGCCCTCTGCCCTTTCCAGGGCAATTTCACCATCATTTTGTATGGAAG___GGCTGATGAAGGTATTCAGCCGGATCCTTACTATGGTCTGAAGTACATTGGGGTTGGTAAAGGAGGCGCTCTTGAGTTGCATGGACAGAAAAAGCTCT)CCTGGACATTTCTGAACAAGACCCTTCACCCAGGTGGCATGGCAGAAGGAGGCgATTTTTTTGAAAGGAGCTGGGGCCACCGTGGAGTTATTGTTCATGTCATCGACCCCAAATCAGGCACAGTCATCCATTCTGACCG|GATCCCAGCTGAAATGGCACATTCTATTTGTCATCACATCTCCTTAGGCTCCTCTTGGCTATGATAGTTTCTCTTTCCCTGTTTTTGATAACCTTGATAGCTTCAAGGAGTGCTGATCAGGTAATTGGCAGAATGCCCCTCTAGTGGAATTTATTCCATATTGCTTTTTAATTATTTACTTGTATGTATTTCTCCC(ATATTTTCCTATGATGTTTTGAAGGGAAAGACCAAGTCATCTGTGTATCTCCAACACTTAGCATTCAATAAATATCTGTTGAGTGAATAAATAAATGGGTGAAAAGTGAATAAAA)$ MGAAGRQDFLFKAMLTISWLTLTCFPGATSTVAAGCPDQSPELQPWNPGHDQDHHVHIGQGKTLLLTSSATVYSIHISEGGKLVIKDHDEPIVLRTRHILIDNGGELHAGSALCPFQGNFTIILYGRADEGIQPDPYYGLKYIGVGKGGALELHGQKKLSWTFLNKTLHPGGMAEGGdFFERSWGHRGVIVHVIDPKSGTVIHSDr|ipaemahsichhislgsswl* 11CO010 ENSG00000227345.8 ENSG00000165733.8 -/- +/+ chr10:49885203 chr10:42791627 CDS/splice-site CDS/splice-site inversion 6 0 0 44 47 medium in-frame . |40S_ribosome_biogenesis_protein_Tsr1_and_BMS1_C-terminal(100%),AARP2CN_(NUC121)_domain(100%) . . ENSG00000227345.8 ENSG00000165733.8 ENST00000402038.7 ENST00000374518.6 upstream upstream . ^(GGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAG___GCAGGCGCTGAGAAGGAGGCGCAGTCCATCTCTCTCAGGGTTAGTGAATGAGGCTCTCCGCCCGGGCCGGCCCGGGGACAGTGCGCTGCTGGTCCCAGCATGAATGCGGGCCCCGGCTGTGAACCCTGCACCAAGCGACCCCGCTGGGGCGCCGCTACAACTTCGCCGGCTGCTTCGGACGCCCGGAGCTTTCCCAGCAGGCAGAGGCGCGTCCTCGACCCCAAGGACGCTCACGTGCAGTTCAGGGTCCCACCGTCCTCGCCAGCCTGCGTCCCAGGGCGGGCGGGACAGCACAGAGGCAGCGCCACCTCGCTTG___TTTTCAAACAAAAGACTATTACCAGTTGGATGGACACTAAAGGAATCAAGACAGCGGAATCAGAAAG___TTTGGATAGTAAAGAAAACAACAATACAAGAATAGAATCCATGATGAGTTCTGTACAAAAAGATAACTTTTACCAACATAATGTAGAAAAATTAGAAAATGTTTCTCAGCTAAGTCTTGATAAGTCACCCACTGAAAAAAGTACACAGTATTTGAACCAGCATCAGACTGCAGCAATGTGTAAGTGGCAAAATGAAGGGAAACACACGGAGCAGCTTTTGGAAAGTGAACCTCAAACAGTAACCCTGGTACCAGAGCAGTTTAGTAATGCTAACATTGATCGGTCACCTCAAAATGATGATCACAGTGACACAGATAGTGAAGAGAATAGAGACAATCAACAGTTTCTCACAACTGTAAAGCTTGCAAATGCAAAGCAGACTACAGAAGATGAACAGGCCAGAGAAGCCAAAAGCCACCAGAAGTGCAGCAAGTCTTGCGATCCTGGGGAAGACTGTGCAAGTTGTCAGCAAGATGAGATAGATGTGGTGCCAGAGAGTCCATTGTCAGATGTTGGCTCTGAGGATGTTGGTACTGGGCCAAAAAATGACAACAAATTGACTAGACAAGAAAGTTGCCTAGGAAATTCTCCTCCATTTGAGAAGGAAAGTGAACCCGAGTCACCGATGGATGTGGATAATTCTAAAAATAGTTGTCAAGACTCAGAAGCAGATGAGGAGACAAGTCCAGGTTTTGATGAACAAGAAGATGGTAGTTCCTCCCAAACAGCAAATAAACCTTCAAGGTTCCAAGCAAGAGACGCTGACATTGAATTTAGGAAACGGTACTCTACTAAGGGCGGTGAAGTTAGATTACATTTCCAATTTGAAGGAGGAGAGAGTCGCACTGGAATGAATGATTTAAATGCTAAACTACCTGGAAATATTTCTAGCCTGAATGTAGAATGCAGAAATTCTAAGCAACATGGAAAAAAGGATTCTAAAATCACAGATCATTTCATGAGACTGCCCAAAGCAGAGGACAGAAG___AAAAGAACAGTGGGAAACCAAACATCAAAGAACAGAAAGGAAGATCCCTAAATACGTTCCACCTCACCTTTCTCCAGATAAGAAGTGGCTTGGAACTCCCATTGAGGAGATGAGAAGAATGCCTCGGTGTGGGATCCGGCTGCCTCTCTTGAGACCATCTGCCAATCACACAGTAACTATTCGG___GTAGATCTTTTGCGAGCAGGAGAAGTTCCTAAACCTTTTCCAACACATTATAAAGATTTGTGGGATAACAAGCATGTTAAAATGCCTTGTTCAGAACAAAATTTGTACCCAGTGGAAGATGAG___AATGGTGAGCGAACTGCGGGGAGCCGGTGGGAGCTCATTCAGACTGCACTTCTC)AACAAATTTACACGACCCCAAAACTTGAAG___GATGCTATTCTGAAATACAATGTGGCATATTCTAAGAAATGGGACTTTACAGCTTTGgTCGATTTCTGGGATAAG___GTACTTGAAGAAGCAGAAGCTCAACATTTATATCAGTCCATCTTGCCTGATATGGTGAAAATTGCACTCTGTCTGCCAAATATTTGCACCCAG|GGTGtCAAGCTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGC(CGTTTTATTACAGTTATGAAGTTTAGGCCTCTCACATGGCAAACTTCTCACCCTTATATCCTGGCAGACAG___GATGGAAGATTTGACAAACCCAGAGGATATCCGAACAAACATCAAATGTGACCGGAAGGTGTCACTTTATGGTTATTTAAGAGGAGCACACTTGAAAAATAAAAGCCAAATTCACATGCCAG___GGGTAGGAGATTTTGCCGTGAGTGACATCAGTTTCCTCCCAGACCCTTGCGCTCTTCCTGAACAACAAAAGAAGCGCTGTTTAAATGAGAAGGAGAAGCTGGTTTATGCGCCTCTTTCTGGAGTTGGGGGTGTGCTGTATGACAAAGACGCTGTCTATGTTGACCTTGGTGGCAGCCACGTTTTTCAG___GATGAAGTGGGGCCCACCCATGAGCTGGTCCAGAGTCTCATCTCTACCCACTCCACCATTGATGCCAAGATGGCTTCAAGTCGAGTGACGCTGTTTTCTGATTCCAAGCCACTTGGGTCAGAGGATATAGATAATCAAGG___GCTAATGATGCCAAAGGAGGAAAAACAAATGGACTTGAACACTGGTCGAATGCGTCGGAAAGCCATTTTCGGAGATGAAGATGAATCTGGAGATAGTGATGATGAAGAAGATGATGAAATGTCTGAAGATGACGGGTTGGAAAACGGCTCTAGTGATGAGGAAGCAGAAGAGGAGGAAAATGCTGAGATGACTGATCAGTATATGGCTGTTAAGGGCATCAAACGACGGAAACTTGAGTTGGAAGAAGACAGTGAAATGGATTTGCCAGCATTTGCTGACAGTGACGATGACCTTGAGAGGAGCTCAGCGGAAGAAGGGGAAGCGGAGGAAGCTGATGAAAGCAGTGAAGAAGAGGACTGCACTGCAGGAGAGAAGGGCATTTCAGGATCAAAGGCTGCTGGAGAAGGTAGTAAAGCAGGGCTGTCACCAGCTAATTGCCAGAGTGACCGTGTGAATCTGGAGAAGTCTTTGCTGATGAAGAAAGCAGCTCTCCCCACTTTCGATTCTGGGCATTGCACAGCTGAAGAGGTGTTTGCATCTGAAGATGAATCTGAAGAAAGCTCCTCACTCAGTGCAGAGGAAGAAGACTCAGAAAATGAAGAGGCTATTAGAAAAAAGCTTTCAAAGCCTTCTCAAGTGAGCAGTGGTCAGAAACTGGGGCCACAGAACTTCATTGATGAGACCAGTGATATAGAAAATTTACTCAAAGAGGAAGAAGATTACAAGGAAGAAAATAATGATTCCAAAGAAACGTCAG___GTGCCCTCAAGTGGAAGGAAGACCTTTCCAGAAAGGCAGCTGAGGCCTTTCTGAGGCAGCAGCAAGCAGCTCCAAACCTCCGAAAGCTTATTTATGGGACAG___TGACAGAAGATAATGAAGAAGAAGATGATGATACTCTAGAAGAGCTTGGAGGGTTGTTTCGTGTCAACCAGCCTGACAGAGAGTGTAAGCACAAGGCTGACTCTTTGGACTGCTCCAGATTTCTTGTGGAGGCCCCCCATGACTGGGATTTAGAGGAG___GTTATGAACAGTATCAGAGATTGCTTCGTGACTGGAAAGTGGGAAGATGATAAAGATGCAGCCAAGGTCTTAGCAGAAGATG___AGGAGCTCTACGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCAGGCCCCAATACTCAG___AATGAAGATATAGAGAAAGAAGTTAAGGAAGAAATTGACCCCGACGAAGAAGAAAGTGCCAAGAAAAAGCATTTGGATAAGAAGAGAAAATTGAAGGAGATGTTTGATGCAGAATATGATGAAGGAGAAAGCACATATTTTGATGATCTTAAAGGAGAAATGCAGAAACAAGCACAG___CTGAATCGCGCAGAATTTGAAGATCAAGATGATGAAGCCAGAGTTCAGTATGAGGGTTTTCGACCTGGGATGTACGTCCGCATTGAGATTGAAAATGTTCCCTGTGAATTTGTGCAGAACTTTGACCCCCATTACCCCATTATCCTGGGTGGCTTGGGCAACAGTGAGGGAAATGTTGGCTACGTGCAG___ATGCGTCTGAAGAAACATCGCTGGTATAAGAAAATCCTCAAGTCCCGAGATCCAATCATATTTTCTGTAGGGTGGAGGAGGTTTCAGACCATCCCACTGTATTATATCGAAGACCACAATGGAAGACAAAGGCTTCTAAAGTATACCCCACAGCACATGCATTGCGGAGCAGCCTTTTGGG___GCCCTATCACTCCACAGGGAACTGGTTTCTTGGCAATACAGTCTGTCAGTGGCATAATG___CCTGATTTTCGGATAGCTGCTACAGGAGTTGTCCTTGATCTGGATAAATCCATAAAAATTGTGAAGAAATTAAAGCTAACTGGTTTTCCATATAAAATTTTCAAGAACACTTCATTTATTAAG___GGAATGTTTAATTCTGCCTTGGAAGTGGCCAAATTTGAAGGTGCTGTGATTCGAACAGTCAGTGGGATAAGGGGGCAGATCAAGAAAGCACTCCGAGCTCCAGAAGGAGCTTTCAGGGCCAGCTTTGAGGATAAGCTGCTGATGAGCG___ATATTGTCTTCATGCGAACTTGGTATCCTGTTTCCATCCCAGCGTTCTATAACCCAGTAACATCTTTGTTGAAACCAGTGGGTGAGAAAGACACCTGGTCAGGAATGCGGACCACGGGCCAACTCAGGCTCGCCCATGGCGTCAGACTAAAGGCGAACAAGGACTCTCTGTATAAG___CCAATCCTGAGGCAAAAGAAACATTTTAATTCACTGCACATTCCAAAAGCCTTGCAGAAGGCCCTGCCATTTAAGAACAAGCCCAAGACCCAAGCAAAGGCAGGCAAGGTGCCAAAGGACAGGCGGAGACCGGCCGTCATACGCGAGCCTCATGAAAGAAAG___ATCCTTGCACTGCTGGATGCTCTGAGTACGGTGCATAGTCAGAAGATGAAGAAGGCCAAGGAGCAGCGGCACCTGCACAATAAAGAGCACTTCAGAGCCAAGCAGAAGGAGGAGGAGGAGAAGCTGAAGCGGCAGAAGGACCTCAGGAAGAAGCTCTTCAGAATTCAGGGGCAGAAGGAAAGAAGAAACCAGAAGTCCAGTTTGAAGGGGGCTGAGGGCCAATTGCAGTGAGCCTTTGGACTGGAGGGACTGTCCCTGGATCTGCGGAGGTAGACAGTTTCAAACATCACAGTTTGAATGCCTGTGAATGACAAGTCAGTGGGAAAGAGCTCAAGAGATGTCTCTACTCAAACTGTGCCTGCAGGAGGAGGAACAGAGAAGCCTGGGCTGCTGGGACTGGGTTCATTCTCATGACTTGGGGCTGTCGAGATTTAAAGTGATGTAAGCTGTGGTTATGTGGATTCTCTTACTTTCCTCTGCCTGCCTCAGTTTAATTATTTTGTCCTACAGAAATATCATTAAAATATTTTTTTGTTACTTTTGGCTTAGTAGTTTTCATTAGGGATGAATGCCTGACAATTCTTTGTGGATAATTATTTATACTACCACCTTCATGAGGAGTCTTCCAGAAGAGAAAGAAATATTCACTTGAACTCTGAGCTCCCATGGAAGATTTTAGAGAATAGTGTGTAGTGTTTTTGTTTTGTTTTTTGTTTGAGTGACACACAAACCTAGATGGTACAGCCTACTGTGCACCCAGGATCTATGGGCTCCTTTGATCACTGGCCCTTGTGGACATTTTCTATCTTATTTCATATGTTCTGCACATTAGTATAGTGACAAGGTAACAGTAAGTACTTTTTTAAAGCTTTAGACTTAGGAGATTATTGTCTCAGGTGCAGAGACCAAGGAAATCGTATGTATCAGTGAGATAGGCTTCCCGTATTATGCTCATGCGTTATACCTGCCTAGCTACATTGCCTTTTTTTAAATTAAACATTATGTTGAAGTAATCATACTATTACATAGGCGATGTATGTATTTTATGATTGTATGTTGATATAGTTATGGGGAATCTATTCCTATACGATGTAATCATAGATTCACATATAGTTGTATATTTTGCCCAATTTCTCTCAGTGGTAATGTTTCACACATATAACAATCAGGATGTTGACATCAATACAGCCCGCTGATTTTATTCACATTTCCCCAGCTTTACTTTCCCCAACGTATACTCCTCCATGTATGCATGGGTGTGTAGAAATATGGAACGCAGCTGGGCACAGTGACTCACGCCTGTAATCCCAGCACTTTGGGATGCTAAGGCAGGAGGATCACTTGAGCCCAGGAATTTGAGACCAACTTGGGCAACATGGCAAAACCTCATCGCTACAAAAAATAAAAAATTCGCCAGGTGTGGTGGGTGCACACCTGTAGTTCCAGCTGCTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCTTGGGAGGTTGAGGCTGCAGTGAGCCATGATAGCACCACTGCACTCCAGCCTGGGCGACAGGGCAAGACCCTGTTTCAAAAAAAAAAAATTATACATATATGTATGTAGAACACTTCATGAATTTGTGTGTCATCTGTGCATGGGGCCCATGCTGACCTCTGTGTTGTGCCAGTTATAGTATGTGTGCTGCTGATATGAGTGCCACATTGCCTTTACAACATCATAGGGGCCAAAGAGGGTTGGCAGGATTATGAGCAGTTGGCCTAGTCTGAGAGGCTCTCTAAAAGCCTAAAGTCTGTAGGCAGGTGCTCAGCTTTGTATCTCCATAAGAAGGGAAGAGGATGTGAGGATCCTGTCAGGGCTAGGTCCACCTGGGAAGTGACAATTGGAACACTCCCAGACCTCTCTGGGCAACTCTGGGTGTACATTTTCCTCTGTTCCTCAAGAGCTATTATGAATTTCATCATCCATTATGCTGATAGGCCTGGGGACTGACACATAGTAAGCCCATAACAATTATAATTTAAAACTAATTTGTTATATAGCATAATTGATATATTTTAAAATGCAAAACTATAATTCAACTAAAATATACAAGGCACTCAAGTCATACCATGTTTTAAGTAGCTTACAAGGTGATCAGCAAGTGTCTTATACAACAAGCAAATTTGTTCAAAGAGAAGCATTGCAAATAAGTATTTATAATTGTATAGTTTTATATTTTAGCCAGAAGAGTGGAATCCTTTAGCAATGGGGGAAATAAAAGAATGTTTAATTACAGTTGCAGATAATTGCCTTTTCCAAAGACAATGTATGTAGGCAGAACTCATACCTGTTAATATTAAAAATCTTGGTTTATCATATTTGGAGAACAAGGGAAATAAAAAGTTTGCATATTAAGATTATTTAAACTAAAGTTAAGGAATCTCTAATGTCTGAAAGAAACAATAAATAGCATTTTTCATGTAGAATTTTTATTGGTGAAGGTTCCACCTGGCCAGGTTAGTAAAATACAGTCACACATCAGTTAAGGATGGGGATATATTCTGAGAAATGTATCATTAGGCAATTTTGTCATTGTGTAAACATCATAGAGTGACACACAAACCTAGATGGTACAGCCTACTGTGCACCTGGGCTCTATGGTATGGCCTGTTGCTCCTAGGCTACAAACCTGGGCAGCATGTGACTGTACTGACTACTGTAGGCAGTTGTAACACAGTGGTAAACATTTGTGTATCGAAACATAGAAAAGGCGTAGCAAAAATACAGTATTGTGGAACCACTGCCATATACGTGGTCCATCCTTGACTGAACATCATGCGGCATGTGGCTGTATGTATACACATAGTTTTTGCTGTGAGTTTGCATCCATCTCATAGGAAGACATATATCAAAATAAGGACCAGACTGGAGAGTGTGTAAATTACTTTTCAATACTAATGGCTTATTAATTTGATATTGTCAGCAAGTATGTTGCAAAAACAAATTCCACCAGAATGTGAGTTCCATGAGAGCAGGAACTGGGTTGTTCACCTTGTTGGCACTTGGAGTAGAGCCACTGAGCTTCGTGCTGCATAAAATTGCTTGGAAGAAAGAAGGGAGGGCATTCCAGGTAACTGAAGCATTGCTATGCAAAGTAAGCATTTGCCCTCTGAAATATTTTAACAATGTTTATAGAAACCTTTCTCAATTGTATTAAACTTTGTAAATTGTAAAAATTATTCTGTTATACCTTTTCTATTTACTAGGCACAGGCAGCCATAGGTGCTAGGTATGTTTTGAAAACATATTGAACCTACAGTGTACATATCATTCCATGCCATTAAATATTCTTATTTAATCATAGATGTGTTCAGGTGTGTTTGGTTTCCTATTTGTGGATGTACTAGATTGTTTTCTTTTTTTAACAAAACCTGTGAACTTGCTTTAAGTATTATCATTTGGTGACATGCCCGCCATTTCAGAAATAAATGTTTGAGCAAAGAGGAAAGCCACCGGGTCTGATTCAGCTCTCTGGAGGCTCCAGAGCTTACCTCGCTGATGGGAAAAAGAGCATCGATTTAATTGCCCTTGGTACCGACTTCTAGTATCTAGTATTTTGCCAGACTCAGGTATTTCTTAAAGCCATTATTCAGAGTCTTCAGCAAGGACATTGTATTTTACTTGTGTCTCCTTAGTTTTACCTAGTTTATTTCATGGTTTTAAAGTATTGTACATTTTTATAATCCTTTAACAAGACAAAAGGTTGAGATGTTGGACATTTAAATGCCAAAGGTGTTTTATTATGAGACTTAGCATTTCATATTTGGGGATGGTACCTTATCGAAAATCAGATAAACTTTGGTTGGATGGGTATTTGGAGGAATCTTTTAAGTCTTTTCTTAAGCAAAGTTTGGACACTCTAAAATAAGGTTGCCAACTGGCATGTAGAGAGAAAAGGATGTGTCATACATTTAGACCAGGTGGCCTGTCCTGTAAATTTTTTTGAGGGGAGGGGTGGGCTTGTTTTTTTCTGTGTTTCGGTTTTTTCCAATTTTTGTTTTGTGATAAAATATGCATAATAAAACTTATTTTATCAATTTTTAA)$ MNAGPGCEPCTKRPRWGAATTSPAASDARSFPSRQRRVLDPKDAHVQFRVPPSSPACVPGRAGQHRGSATSLVFKQKTITSWMDTKGIKTAESESLDSKENNNTRIESMMSSVQKDNFYQHNVEKLENVSQLSLDKSPTEKSTQYLNQHQTAAMCKWQNEGKHTEQLLESEPQTVTLVPEQFSNANIDRSPQNDDHSDTDSEENRDNQQFLTTVKLANAKQTTEDEQAREAKSHQKCSKSCDPGEDCASCQQDEIDVVPESPLSDVGSEDVGTGPKNDNKLTRQESCLGNSPPFEKESEPESPMDVDNSKNSCQDSEADEETSPGFDEQEDGSSSQTANKPSRFQARDADIEFRKRYSTKGGEVRLHFQFEGGESRTGMNDLNAKLPGNISSLNVECRNSKQHGKKDSKITDHFMRLPKAEDRRKEQWETKHQRTERKIPKYVPPHLSPDKKWLGTPIEEMRRMPRCGIRLPLLRPSANHTVTIRVDLLRAGEVPKPFPTHYKDLWDNKHVKMPCSEQNLYPVEDENGERTAGSRWELIQTALLNKFTRPQNLKDAILKYNVAYSKKWDFTALvDFWDKVLEEAEAQHLYQSILPDMVKIALCLPNICTQ|GvKLFYLSGMVHGEYQNQEIHNLGRFITVMKFRPLTWQTSHPYILADRMEDLTNPEDIRTNIKCDRKVSLYGYLRGAHLKNKSQIHMPGVGDFAVSDISFLPDPCALPEQQKKRCLNEKEKLVYAPLSGVGGVLYDKDAVYVDLGGSHVFQDEVGPTHELVQSLISTHSTIDAKMASSRVTLFSDSKPLGSEDIDNQGLMMPKEEKQMDLNTGRMRRKAIFGDEDESGDSDDEEDDEMSEDDGLENGSSDEEAEEEENAEMTDQYMAVKGIKRRKLELEEDSEMDLPAFADSDDDLERSSAEEGEAEEADESSEEEDCTAGEKGISGSKAAGEGSKAGLSPANCQSDRVNLEKSLLMKKAALPTFDSGHCTAEEVFASEDESEESSSLSAEEEDSENEEAIRKKLSKPSQVSSGQKLGPQNFIDETSDIENLLKEEEDYKEENNDSKETSGALKWKEDLSRKAAEAFLRQQQAAPNLRKLIYGTVTEDNEEEDDDTLEELGGLFRVNQPDRECKHKADSLDCSRFLVEAPHDWDLEEVMNSIRDCFVTGKWEDDKDAAKVLAEDEELYGDFEDLETGDVHKGKSGPNTQNEDIEKEVKEEIDPDEEESAKKKHLDKKRKLKEMFDAEYDEGESTYFDDLKGEMQKQAQLNRAEFEDQDDEARVQYEGFRPGMYVRIEIENVPCEFVQNFDPHYPIILGGLGNSEGNVGYVQMRLKKHRWYKKILKSRDPIIFSVGWRRFQTIPLYYIEDHNGRQRLLKYTPQHMHCGAAFWGPITPQGTGFLAIQSVSGIMPDFRIAATGVVLDLDKSIKIVKKLKLTGFPYKIFKNTSFIKGMFNSALEVAKFEGAVIRTVSGIRGQIKKALRAPEGAFRASFEDKLLMSDIVFMRTWYPVSIPAFYNPVTSLLKPVGEKDTWSGMRTTGQLRLAHGVRLKANKDSLYKPILRQKKHFNSLHIPKALQKALPFKNKPKTQAKAGKVPKDRRRPAVIREPHERKILALLDALSTVHSQKMKKAKEQRHLHNKEHFRAKQKEEEEKLKRQKDLRKKLFRIQGQKERRNQKSSLKGAEGQLQ* 11CO010 ENSG00000103888.17 ENSG00000242267.6 +/+ -/+ chr15:80882290 chr1:48107795 intron intron translocation/5'-5' 1 1 1 3 2 medium . . G8_domain(100%),Interleukin-like_EMT_inducer(100%)| . . ENSG00000103888.17 ENSG00000242267.6 . . downstream upstream . GGAGCTGAAGTGCTTGCTGGTGCTCACAGACACCCAACCTTGCCaGTAAACATTAGTACCTATAACAGTCACTGGACTTTCTCCCCGTAAAACACTGTTCATCACTTTACCTGTCAAATATACTTCAATCTT|GGGTGAAACTGCCTTCATAATCCAATCACCTCCTACCAGGTCTCTCCCTCAACACATGGGGATTACAATTTGAGATGAGATCTGGGTGGGGACACAGCCAAACCATATTAATATCTTAGCGTGTACCTTGTGG . 11CO010 ENSG00000197134.13 ENSG00000268278.1 +/+ +/- chr19:22052635 chr19:21640621 CDS/splice-site intron inversion/3'-3' 3 0 0 21 0 medium out-of-frame . . . . ENSG00000197134.13 ENSG00000268278.1 ENST00000594947.6 . downstream downstream . ^(ACTTTGTCTCTCGCTCTAGCCCGAGCTGCAGGTCTCGTCTTCCCTGGTCTGTGTCCTCTTCTCCTAGGGGC)CCAGCCTCTGTGGCCCTGTGACCTGCAGGTATTGGGAGATCCCCAGCTAAGACGCCAGGTCCTCCTGGAAGCCTAGAAATG|AGCATCACTTGAACCcGGGAGGCGGAGGTTGCTGTGAGCCAAGATCATGACACTGCACTCCAGCTTGGGCAACAAGAGC M|sit* 11CO010 ENSG00000142731.11 ENSG00000250693.2(123957),ENSG00000248488.2(10435) +/+ ./+ chr4:127883553 chr4:115753664 CDS/splice-site intergenic duplication 2 0 0 25 2 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000142731.11 . ENST00000270861.10 . downstream upstream . ^(ACCACCAGCCTAGCTCGGACGGCAAGCGGCGGGAGATTTTCAAAATGGGAGCCCAGAGGCACCGCCCAGGCCTCGGAAGGTGTCAGGGAGAACTTTCCGTGGTTTCAGCGTCGTCGCCTGGAGCGGCGGTTTAGAGAGCCGAGCCTGATGGGCGCCAAGGCCGGCTGGCTGCTTGGAGCGCTGCCTCGAAGGGACTGCGTGAAGGAAGCTAATCCGGAGAACCCAGGCCAGAGCCTGGAAATATGGCGACCTGCATCGGGGAGAAGATCGAG___GATTTTAAAGTTGGAAATCTGCTTGGTAAAGGATCATTTGCTGGTGTCTACAGAGCTGAGTCCATTCACACTGGTTTGGAAGTTGCAATCAAAATG___ATAGATAAGAAAGCCATGTACAAAGCAG)GAATGGTACAGAGAGTCCAAAATGAGGTGAAAATACATTGCCAATTGAAACATCCTTCTATCTTGGAG___CTTTATAACTATTTTGAAGATAGCAATTATGTGTATCTGGTATTAGAAATGTGCCATAATGGAGAAATGAACAGGTATCTAAAGAATAGAGTGAAACCCTTCTCAGAAAATGAAG|ATTACCCAGAGTCATGTATGTCTTTTTAGCAGCATGAGAACAGACTAATAGAGTAAGTGGGTACCAGGTAGTGGGTGCTGCTATAAAGATAGCCAAAAATGTGGAAGC MATCIGEKIEDFKVGNLLGKGSFAGVYRAESIHTGLEVAIKMIDKKAMYKAGMVQRVQNEVKIHCQLKHPSILELYNYFEDSNYVYLVLEMCHNGEMNRYLKNRVKPFSENE|dypescmsf* 11CO010 ENSG00000143036.17 ENSG00000172238.6(196937),ENSG00000246541.2(89891) +/+ ./- chr1:94828586 chr4:94027901 CDS/splice-site intergenic translocation 2 0 0 82 0 medium out-of-frame . . . . ENSG00000143036.17 . ENST00000527077.5 . downstream downstream . ^(GCGTACAGGAGGCGGCGGCGGCTCCCAGTCACCGGCCCCCGCCGGCGAGCGCACGATGCACTGCCTGGGCGCCGAGTACCTG___GTGTTTATCATGGGCTACTCGGTGGTGGCTGGAGCCGCGGGAAGACTCCTCTTTGGCTATGACAGCTTTGGCAACATGTGTGGCAAGAAGAACTCCCCCGTGGAAGGGGCCCCTCTTTCAGGGCAGGACATGACCCTAAAAAA___ACACGTGTTCTTTATGAATTCCTGCAAC)CTGGAAGTCAAAG___GGTCCTTCCTGTGTGTTTATAGTTTGAATTCCTTCAACTAcACCCACAGTCCAAAAGCAGACTCACTGTGTCCCAGGCTACCAGTTCCTCCAAG|ACTATGAATTGTATTCTCCAGAGACATGAACGGAAGAAAAGAGAGAAAGTGAG MHCLGAEYLVFIMGYSVVAGAAGRLLFGYDSFGNMCGKKNSPVEGAPLSGQDMTLKKHVFFMNSCNLEVKGSFLCVYSLNSFNYTHSPKADSLCPRLPVPPr|l* 11CO018 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 12 20 0 37 60 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(1),inconsistently_clipped(1) CCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC(___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11CO018 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 22 9 0 43 41 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(2),mismatches(3) AGCGGGGGACCCGCGACCTGGAGCAGCGGGAGGCCGAGGCCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGAC(CATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO018 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 12 0 36 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(2),mismappers(2),mismatches(3) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO018 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 12 14 1 55 73 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) CTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGgTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC?????CAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGG(AATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO018 ENSG00000173726.11 ENSG00000273416.1(4454),ENSG00000173726.11(278) -/- ./+ chr1:235128595 chr1:235109063 CDS/splice-site intergenic inversion 9 9 1 400 97 high out-of-frame . MAS20_protein_import_receptor(100%)| . . ENSG00000173726.11 . ENST00000366607.5 . upstream upstream duplicates(1),mismatches(1) ^(CTTTCTGTGTTCCTGGCCCGCGGCCGTCGGGT)GTGAGCTGCGCCGACCGCTCTGAGGGTTCGTGGCCCACCGCTCCTTCGCGGTCCCTGCCGCCACCGTCCACGCTCAGCGTTGTAGAGAAGATGGTGGGTCGGAACAGCGCCATCGCCGCCGGTGTATGCGGGGCCCTTTTCATTGGGTACTGCATCTACTTCGACCGCAAAAGACGAAGTGACCCCAACTTCAAGAACAGGCTTCGAGAAC|CACCACCACCACTGGGCTCCTCTCACGAACCTGTTGTAACGGGCCTCCCAGGTGACTGCTATCTCCTGACGCTGGGCCCACCACCACCTGGAAGCCCTCAGGCGCTGACACTACCACAGGGATTTTCTTCACCTGGAATCTGAAGCAAATGTGCATTCTTCTGGCAGGGAAGCCTGCGGCCCTAGACATCCTCAAAGACGTTAACAACAAAAAACCCACAGCTTTAGACTCAATAAATTCAGCAGAGTTCACTTCTCCAAACATACGCCAAG MVGRNSAIAAGVCGALFIGYCIYFDRKRRSDPNFKNRLRE|pppplgsshepvvtglpgdcylltlgppppgspqaltlpqgfsspgi* 11CO018 ENSG00000279334.1(5025),ENSG00000280097.1(25873) ENSG00000196498.13 ./- -/- chr12:124567308 chr12:124495368 intergenic 5'UTR/splice-site deletion/read-through 6 8 0 61 79 high . . |G-protein_pathway_suppressor_2-interacting_domain(100%),Myb-like_DNA-binding_domain(100%) . . . ENSG00000196498.13 . ENST00000404621.5 upstream downstream . CCAGGGCCGGCGCCCTAGGAGGCGGCGGCGGGAGGATCGCGTCCCGACCCGAGGCCGGGCCTGCTGCGCGCCCCCAGCCCGATCGGCACCGCCACTTGCCTGAGCGCCCCGGCGGCCCGAGCGCGCCCCAAGCCCGGGCGCCACCGCTGCCACCTCCGCGAG|GTGCCAGTGACGGGGTGGCCCGTGAGCTGATGACGAGGACTGGCTTTTAATCCTTGGTGGTGATTAAGAGAAAGCTTATTGcGGCCTGGGAGCAGCTCCCCGCCGACCCCCACCACCATGTCGGGATCCACACAGCCTGTGGCACAGACGTGGAGGGCCACTGAGCCCCGCTACCCGCCCCACAGCCTTTCCTACCCAGTGCAGATCGCCCGGACGCACACG___GACGTCGGGCTCCTGGAGTACCAGCACCACTCCCGCGACTATGCCTCCCACCTGTCGCCCGGCTCCATCATCCAGCC(CCAGCGGCGGAGGCCCTCCCTGCTGTCTGAGTTCCAGCCCGGGAATGAACG___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)$ . 11CO018 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 9 4 0 16 15 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(2) GGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACC(TTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO018 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 41 38 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAG(GGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO018 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 2 0 158 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___AT)CTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO018 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 6 0 15 10 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCAC)CAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 11CO018 ENSG00000145819.18 ENSG00000231185.7 +/+ +/+ chr5:143147381 chr5:142581802 CDS/splice-site exon/splice-site duplication 4 1 0 59 10 high out-of-frame . BAR_domain_of_APPL_family(100%),PH_domain(100%),RhoGAP_domain(100%)| . . ENSG00000145819.18 ENSG00000231185.7 ENST00000274498.9 ENST00000443800.5 downstream upstream . ^(AGACACCGGCGGGGCGGCCGAGGCTGCTGTGAGAGGGCGCTCGAGGCTGCCGAGAGCTAGCTAGCGAAGGAGGCGGGGAGGCGGCGTCTGCACTCGCTCGCCCGCTCGCTCGCTTCCCGGCGCCGCTGCGGGTCCGCGCTGCGTTTCCTGCTCGCGATCCGCTCCGTTGCCCGCGCCCGGAACAGCAGCACCTCGGCCGGGTCCGAGCTCGGTTCGGGAGTCTTGCGCGCCGGCGGACACCGCGCGCGGAGTGAGCCAGCGCCACACCTGTGGAGCCGGCGGCCGTCGGGGGAGCCGGCCGGGGTCCCGCCGCGTGAGTGCTCTGGGCGGCGGGCGGCCCGGGCCCCGGCGGAGGCGCGCCCCCCGGCTGGGCGCCGCGCGCACCATGGGGCTCCCAGCGCTCGAGTTCAGCGACTGCTGCCTCGATAGTCCGCACTTCCGAGAGACGCTCAAGTCGCACGAAGCAGAGCTGGACAAGACCAACAAATTCATCAAGGAGCTCATCAAGGACGGGAAGTCACTCATAAGCGCGCTCAAGA___ATTTGTCTTCAGCGAAGCGGAAGTTTGCAGATTCCTTAAATGAATTTAAATTTCAGTGCATAGGAGATGCAGAAACAGATGATGAGATGTGTATAG___CAAGATCTTTGCAGGAGTTTGCCACTGTCCTCAGGAATCTTGAAGATGAACGGATACGGATG___ATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAG___GAAGCCAAAAAGAAGTATGACAAAGAGACAGAAAAGTATTGTGGCATCTTAGAAAAACACTTGAATTTGTCTTCCAAAAAGAAAGAATCTCAGCTTCAGGAG___GCAGACAGCCAAGTGGACCTGGTCCGGCAGCATTTCTATGAAGTATCCCTGGAATATGTCTTCAAGGTGCAGGAAGTCCAAGAGAGAAAGATGTTTGAGTTTGTGGAGCCT___CTGCTGGCCTTCCTGCAAGGACTCTTCACTTTCTATCACCATGGTTACGAACTGGCCAAGGATTTCGGGGACTTCAAGACACAGTTAACCATTAGCATACAGAAC___ACAAGAAATCGCTTTGAAGGCACTAGATCAGAAGTGGAATCACTGATGAAAAAGATGAAGGAGAATCCCCTTGAGCACAAGACCATCAGTCCCTACACCATGGAGGGATACCTCTACGTGCAGGAGAAAC___GTCACTTTGGAACTTCTTGGGTGAAGCACTACTGTACATATCAACGGGATTCCAAACAAATCACCATGGTACCATTTGACCAAAAGTCAGGAGGAAAAGGG___GGAGAAGATGAATCAGTTATCCTCAAATCCTGCACACGGCGGAAAACAGACTCCATTGAGAAGAGGTTTTGCTTTGATGTGGAAGCAGTAGACAG___GCCAGGGGTTATCACCATGCAAGCTTTGTCGGAAGAGGACCGGAGGCTCTGGATGGAAGCCATGGATGGCCGGGAACCT___GTCTACAACTCGAACAAAGACAGCCAGAGTGAAGGGA___CTGCGCAGTTGGACAGCATTGGCTTCAGCATAATCAGGAAATGCATCCATGCTGTGGAAACCAGAG___GGATCAACGAGCAAGGGCTGTATCGAATTGTGGGTGTCAACTCCAGAGTGCAGAAGTTGCTGAGTGTCCTGATGG___ACCCCAAGACTGCTTCTGAGACAGAAACAGATATCTGTGCTGAATGGGAGATAAAGACCATCACTAGTGCTCTGAAGACCTACCTAAG___AATGCTTCCAGGACCACTCATGATGTACCAGTTTCAAAGAAGTTTCATCAAAGCAGCAA___AACTGGAGAACCAGGAGTCTCGGGTCTCTGAAATCCACAGCCTTGTTCATCGGCTCCCAGAGAAAAATCGGCAGATGTTACAGCTGCTCATGAACCACTTGGCAAA___TGTTGCTAACAACCACAAGCAGAATTTGATGACGGTGGCAAACCTTGGTGTGGTGTTTGGACCCACTCTGCTGAGGCCTCAGGAAGAAACAGTAGCAGCCATCATGGACATCAAATTTCAGAACATTGTCATTGAGATCCTAATAGAAAACCACGAAAAG___ATATTTAACACCGTGCCCGATATGCCTCTCACCAATGCCCAGCTGCACCTGTCTCGGAAGAAGAGCAGTGACTCCAAGCCCCCGTCC)TGCAGCGAGAGGCCCCTGACGCTCTTCCACACCGTTCAGTCAACAGAGAAAC___AGGAACAAAGGAACAGCATCATCAACTCCAGTTTGGAATCTGTCTCATCAAATCCAAACAGCATCCTTAATTCCAGCAGCAGCTTACAGCCCAACATGAACTCCAGTGACCCAGACCTGGCTGTGGTCAAACCCACCCGGCCCAACTCACT|GACTTCCTTGAGTGCTCCAGGAGCTTGTCATTCCAGAGACAGAGCAGCCCAGAAGTCCTGGGATTTACACCTCTAGTAGAAACCCTCAACCAGAGAAG(GATGGAAGTCAATGG___GCAGAGTGCTCGGGAGACCTTTACCTGTTTTACCTGATTACATCCTCTGAGGTATGTGCCATTTATACCTGGGGAAACTGAGGCTCAGAAAAATGACCTTGTCTGTGGTCACACAGCTGGTAAGGGGTAGGAATGGAATTTAAACCCAGTTGTCTAACTTCAGGGCCCACATTTCAGCCACAACTGAGGTTTTTCCTAACCTAACCCCAT)$ MGLPALEFSDCCLDSPHFRETLKSHEAELDKTNKFIKELIKDGKSLISALKNLSSAKRKFADSLNEFKFQCIGDAETDDEMCIARSLQEFATVLRNLEDERIRMIENASEVLITPLEKFRKEQIGAAKEAKKKYDKETEKYCGILEKHLNLSSKKKESQLQEADSQVDLVRQHFYEVSLEYVFKVQEVQERKMFEFVEPLLAFLQGLFTFYHHGYELAKDFGDFKTQLTISIQNTRNRFEGTRSEVESLMKKMKENPLEHKTISPYTMEGYLYVQEKRHFGTSWVKHYCTYQRDSKQITMVPFDQKSGGKGGEDESVILKSCTRRKTDSIEKRFCFDVEAVDRPGVITMQALSEEDRRLWMEAMDGREPVYNSNKDSQSEGTAQLDSIGFSIIRKCIHAVETRGINEQGLYRIVGVNSRVQKLLSVLMDPKTASETETDICAEWEIKTITSALKTYLRMLPGPLMMYQFQRSFIKAAKLENQESRVSEIHSLVHRLPEKNRQMLQLLMNHLANVANNHKQNLMTVANLGVVFGPTLLRPQEETVAAIMDIKFQNIVIEILIENHEKIFNTVPDMPLTNAQLHLSRKKSSDSKPPSCSERPLTLFHTVQSTEKQEQRNSIINSSLESVSSNPNSILNSSSSLQPNMNSSDPDLAVVKPTRPNSl|tslsapgachsrdraaqkswdlhl* 11CO018 ENSG00000145819.18 ENSG00000231185.7 +/+ +/+ chr5:143121147 chr5:142581802 CDS/splice-site exon/splice-site duplication 2 1 0 74 10 high out-of-frame . BAR_domain_of_APPL_family(100%),PH_domain(100%),RhoGAP_domain(100%)| . . ENSG00000145819.18 ENSG00000231185.7 ENST00000274498.9 ENST00000443800.5 downstream upstream duplicates(1),mismappers(1) ^(AGACACCGGCGGGGCGGCCGAGGCTGCTGTGAGAGGGCGCTCGAGGCTGCCGAGAGCTAGCTAGCGAAGGAGGCGGGGAGGCGGCGTCTGCACTCGCTCGCCCGCTCGCTCGCTTCCCGGCGCCGCTGCGGGTCCGCGCTGCGTTTCCTGCTCGCGATCCGCTCCGTTGCCCGCGCCCGGAACAGCAGCACCTCGGCCGGGTCCGAGCTCGGTTCGGGAGTCTTGCGCGCCGGCGGACACCGCGCGCGGAGTGAGCCAGCGCCACACCTGTGGAGCCGGCGGCCGTCGGGGGAGCCGGCCGGGGTCCCGCCGCGTGAGTGCTCTGGGCGGCGGGCGGCCCGGGCCCCGGCGGAGGCGCGCCCCCCGGCTGGGCGCCGCGCGCACCATGGGGCTCCCAGCGCTCGAGTTCAGCGACTGCTGCCTCGATAGTCCGCACTTCCGAGAGACGCTCAAGTCGCACGAAGCAGAGCTGGACAAGACCAACAAATTCATCAAGGAGCTCATCAAGGACGGGAAGTCACTCATAAGCGCGCTCAAGA___ATTTGTCTTCAGCGAAGCGGAAGTTTGCAGATTCCTTAAATGAATTTAAATTTCAGTGCATAGGAGATGCAGAAACAGATGATGAGATGTGTATAG___CAAGATCTTTGCAGGAGTTTGCCACTGTCCTCAGGAATCTTGAAGATGAACGGATACGGATG___ATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAG___GAAGCCAAAAAGAAGTATGACAAAGAGACAGAAAAGTATTGTGGCATCTTAGAAAAACACTTGAATTTGTCTTCCAAAAAGAAAGAATCTCAGCTTCAGGAG___GCAGACAGCCAAGTGGACCTGGTCCGGCAGCATTTCTATGAAGTATCCCTGGAATATGTCTTCAAGGTGCAGGAAGTCCAAGAGAGAAAGATGTTTGAGTTTGTGGAGCCT___CTGCTGGCCTTCCTGCAAGGACTCTTCACTTTCTATCACCATGGTTACGAACTGGCCAAGGATTTCGGGGACTTCAAGACACAGTTAACCATTAGCATACAGAAC___ACAAGAAATCGCTTTGAAGGCACTAGATCAGAAGTGGAATCACTGATGAAAAAGATGAAGGAGAATCCCCTTGAGCACAAGACCATCAGTCCCTACACCATGGAGGGATACCTCTACGTGCAGGAGAAAC___GTCACTTTGGAACTTCTTGGGTGAAGCACTACTGTACATATCAACGGGATTCCAAACAAATCACCATGGTACCATTTGACCAAAAGTCAGGAGGAAAAGGG___GGAGAAGATGAATCAGTTATCCTCAAATCCTGCACACGGCGGAAAACAGACTCCATTGAGAAGAGGTTTTGCTTTGATGTGGAAGCAGTAGACAG___GCCAGGGGTTATCACCATGCAAGCTTTGTCGGAAGAGGACCGGAGGCTCTGGATGGAAGCCATGGATGGCCGGGAACCT___GTCTACAACTCGAACAAAGACAGCCAGAGTGAAGGGA___CTGCGCAGTTGGACAGCATTGGCTTCAGCATAATCAGGAAATGCATCCATGCTGTGGAAACCAGAG___GGATCAACGAGCAAGGGCTGTATCGAATTGTGGGTGTCAACTCCAGAGTGCAGAAGTTGCTGAGTGTCCTGATGG___ACCCCAAGACTGCTTCTGAGACAGAAACAGATATCTGTGCTGAATGGGAGATAAAGACCATCACTAGTGCTCTGAAGACCTACCTAAG___AATGCTTCCAGGACCACTCATGATGTACCAGTTTCAAAGAAGTTTCATCAAAGCAGCAA___AACTGGAGAACCAGGAGTCTCGGGTCTCTGAAATCCACAGCCTTGTTCATCGGCTCCCAGAGAAAAATCGGCAGATGTTACAGCTGCTCATGAACCACTTGGCAAA___TGTTGCTAACAACCACAAGCAGAATTTGATGACGGTGG)CAAACCTTGGTGTGGTGTTTGGACCCACTCTGCTGAGGCCTCAGGAAGAAACAGTAGCAGCCATCATGGACATCAAATTTCAGAACATTGTCATTGAGATCCTAATAGAAAACCACGAAAAG|GACTTCCTTGAGTGCTCCAGGAGCTTGTCATTCCAGAGACAGAGCAGCCCAGAAGTCCTGGGATTTACACCTCTAGTAGAAACCCTCAACCAGAGAAGGATG(GAAGTCAATGG___GCAGAGTGCTCGGGAGACCTTTACCTGTTTTACCTGATTACATCCTCTGAGGTATGTGCCATTTATACCTGGGGAAACTGAGGCTCAGAAAAATGACCTTGTCTGTGGTCACACAGCTGGTAAGGGGTAGGAATGGAATTTAAACCCAGTTGTCTAACTTCAGGGCCCACATTTCAGCCACAACTGAGGTTTTTCCTAACCTAACCCCAT)$ MGLPALEFSDCCLDSPHFRETLKSHEAELDKTNKFIKELIKDGKSLISALKNLSSAKRKFADSLNEFKFQCIGDAETDDEMCIARSLQEFATVLRNLEDERIRMIENASEVLITPLEKFRKEQIGAAKEAKKKYDKETEKYCGILEKHLNLSSKKKESQLQEADSQVDLVRQHFYEVSLEYVFKVQEVQERKMFEFVEPLLAFLQGLFTFYHHGYELAKDFGDFKTQLTISIQNTRNRFEGTRSEVESLMKKMKENPLEHKTISPYTMEGYLYVQEKRHFGTSWVKHYCTYQRDSKQITMVPFDQKSGGKGGEDESVILKSCTRRKTDSIEKRFCFDVEAVDRPGVITMQALSEEDRRLWMEAMDGREPVYNSNKDSQSEGTAQLDSIGFSIIRKCIHAVETRGINEQGLYRIVGVNSRVQKLLSVLMDPKTASETETDICAEWEIKTITSALKTYLRMLPGPLMMYQFQRSFIKAAKLENQESRVSEIHSLVHRLPEKNRQMLQLLMNHLANVANNHKQNLMTVANLGVVFGPTLLRPQEETVAAIMDIKFQNIVIEILIENHEK|dflecsrslsfqrqsspevlgftplvetlnqrrmevngqsaretftcft* 11CO018 ENSG00000182057.5 ENSG00000100207.18 +/- -/- chr22:42270339 chr22:42215341 intron 5'UTR deletion/read-through/3'-3' 5 20 0 25 26 medium . . |PHD-like_zinc-binding_domain(100%) . . ENSG00000182057.5 ENSG00000100207.18 . ENST00000359486.7 upstream downstream . CCCACCCCGCGCAGCGCCGCCCGCCGTCGCCACCGCTCCCTCCCCGCCCGCCCCCGGCGGAGGCCGAGGGACTGGGCGGGGGGCTCCTGCAG|GAGGGCTGTTGGCCTGCTGCTGTGCTGCTGAACAGTATGCAGTCCTTTCGGGAGCAAAGCAGTTACCACGGAAACCAGCAAAGCTACCCACAGGAGGTACACGGCTCATCCCGGCTAGAAGAGTTCAGCCCTCGTCAGGCCCAGATGTTCCAGAATTTTGGAGGTACAGGTGGCAGTAGTGGCAGCAGTGGCAGTGGCAGTGGTGGTGGACGACGAG(GAGCAGCAGCTGCTGCGGCAGCGATGGCTAGCGAGACCTCTGGCCATCAAGGTTACCAGGGTTTCAGGAAAGAGGCTGGAGATTTTTACTACATGGCAGGCAACAAAGACCCCGTGACTACAGGAACCCCACAGCCTCCTCAGCGAAGGCCTTCTGGGCCTGTGCAGAGCTATGGACCCCCCCAGGGGAGCAGCTTTGGCAATCAGTATGGGAGTGAGGGTCATGTGGGCCAGTTTCAAGCACAGCACTCTGGCCTTGGCGGTGTGTCACATTATCAGCAGGATTACACTGGGCCTTTCTCTCCAGGGAGTGCTCAGTACCAACAGCAGGCTTCCAGCCAGCAGCAGCAGCAGCAAGTCCAGCAGTTGAGACAACAGCTTTACCAGTCCCATCAGCCCCTGCCACAGGCCACTGGCCAACCAGCATCCAGCTCATCCCATCTACAGCCAATGCAGCGGCCCTCAACTCTGCCATCCTCTGCTGCTGGTTACCAGTTAAGAGTGGGTCAGTTTGGCCAACACTATCAGTCTTCTGCTTCCTCCTCCTCCTCCTCCTCCTTCCCTTCACCACAGCGTTTTAGCCAGTCTGGACAGAGCTATGATGGCAGTTACAATGTGAATGCTGGATCTCAGTATGAAGGACACAATGTGGGTTCTAATGCACAGGCTTATGGAACACAATCCAATTACAGCTATCAGCCTCAATCTATGAAGAATTTTGAACAGGCAAAGATTCCACAAGGGACCCAACAGGGGCAGCAGCAGCAGCAACCGCAGCAACAACAACACCCTTCTCAGCATGTGATGCAGTATACTAACGCTGCCACCAAGCTGCCCCTGCAAAGCCAAGTGGGGCAGTACAACCAGCCTGAGGTTCCTGTGAGGTCCCCCATGCAGTTTCACCAGAACTTCAGCCCCATTTCTAACCCTTCTCCAGCTGCCTCTGTGGTTCAGTCTCCAAGCTGTAGTTCTACCCCATCTCCTCTCATGCAGACTGGGGAGAATCTCCAGTGTGGGCAAGGCAGTGTGCCTATGGGTTCCAGAAACAGAATTTTACAGTTAATGCCTCAACTCAGTCCAACCCCATCAATGATGCCCAGTCCTAATTCTCATGCTGCAGGCTTCAAAGGGTTTGGACTAGAAGGGGTACCAGAAAAGCGACTGACAGATCCTGGGTTGAGTAGTTTGAGTGCTCTGAGTACTCAAGTGGCCAATCTTCCTAACACTGTCCAGCACATGTTACTTTCTGATGCCCTGACTCCTCAGAAGAAGACCTCCAAGAGGCCCTCATCTTCCAAGAAAGCAGATAGCTGCACAAATTCTGAAGGCTCCTCACAACCTGAAGAACAGCTGAAGTCCCCTATGGCAGAGTCATTAGATGGAGGCTGCTCCAGCAGTTCAGAGGATCAAGGCGAGAGAGTGCGGCAACTAAGTGGCCAGAGCACCAGCTCTGACACCACCTACAAGGGTGGAGCCTCTGAGAAAGCTGGCTCCTCACCGGCACAAGGTGCTCAGAATGAACCCCCCAGACTCAATGCTAGTCCTGCCGCAAGAGAAGAGGCCACCTCACCAGGCGCTAAGGACATGCCATTGTCATCCGACGGGAACCCAAAGGTTAATGAGAAGACTGTTGGGGTGATTGTCTCCCGGGAAGCCATGACAGGTCGGGTAGAAAAGCCTGGTGGACAAGATAAAGGCTCCCAAGAGGATGATCCTGCAGCCACTCAAAGGCCACCTAGCAATGGTGGGGCAAAGGAAACCAGTCATGCATCACTTCCCCAGCCAGAGCCTCCAGGAGGAGGAGGGAGCAAAGGAAACAAGAATGGCGATAACAACTCCAACCATAATGGAGAAGGAAATGGCCAGAGTGGCCACTCTGCAGCGGGCCCTGGTTTTACGAGCAGAACTGAGCCTAGCAAATCTCCTGGAAGTCTGCGCTATAGTTACAAAGATAGTTTCGGGTCAGCCGTGCCACGAAATGTCAGTGGCTTTCCTCAGTATCCTACAGGGCAAGAAAAGGGAGATTTCACTGGCCATGGGGAACGAAAGGGTAGAAATGAAAAATTCCCAAGCCTCCTGCAGGAAGTGCTTCAGGGTTACCACCACCACCCTGACAGGAGATATTCTAGGAGTACTCAAGAGCATCAGGGGATGGCTGGTAGCCTAGAAGGAACCACAAGGCCCAATGTCTTGGTTAGTCAAACCAATGAATTAGCTAGCAGGGGCCTTCTGAACAAAAGCATTGGGTCTCTATTAGAAAATCCCCACTGGGGCCCCTGGGAAAGGAAATCAAGCAGCACAGCTCCTGAAATGAAACAGATCAATTTGACTGACTATCCAATTCCCAGAAAGTTTGAAATAGAGCCTCAGTCATCAGCACATGAGCCTGGGGGTTCCCTCTCTGAAAGAAGATCAGTGATCTGTGATATTTCTCCACTAAGACAGATTGTCAGGGACCCAGGGGCTCACTCACTGGGACACATGAGTGCCGACACCAGAATTGGGAGGAATGACCGTCTCAATCCAACTTTAAGTCAGTCGGTCATTCTTCCTGGTGGTTTGGTGTCCATGGAAACCAAGCTGAAATCCCAGAGCGGGCAGATAAAAGAGGAAGACTTTGAACAGTCTAAATCTCAAGCTAGTTTCAACAACAAGAAATCTGGAGACCACTGCCATCCTCCTAGCATCAAGCATGAGTCTTACCGCGGCAATGCCAGCCCTGGAGCAGCAACCCATGATTCCCTTTCAGACTATGGCCCGCAAGACAGCAGACCCACGCCAATGCGGCGGGTCCCTGGCAGAGTTGGTGGTCGGGAGGGCATGAGGGGTCGGTCCCCTTCTCAATATCATGACTTTGCAGAAAAATTGAAAATGTCTCCTGGGCGGAGCAGAGGCCCAGGGGGAGACCCTCATCACATGAATCCACACATGACCTTTTCAGAGAGGGCTAACCGGAGTTCTTTACACACTCCCTTTTCTCCCAACTCAGAAACCCTGGCCTCTGCTTATCATGCAAATACTCGGGCTCATGCTTATGGGGACCCTAACGCAGGTTTGAATTCTCAGCTGCATTATAAGAGACAGATGTACCAACAGCAACCAGAGGAGTATAAAGACTGGAGCAGCGGTTCTGCTCAGGGAGTAATTGCTGCAGCACAGCACAGGCAGGAGGGGCCACGGAAGAGTCCAAGGCAGCAGCAGTTTCTTGACAGAGTACGGAGCCCTCTGAAAAATGACAAAGATGGTATGATGTATGGCCCACCAGTGGGGACTTACCATGACCCCAGTGCCCAGGAGGCTGGGCGCTGCCTAATGTCTAGTGATGGTCTGCCTAACAAGGGCATGGAATTAAAGCATGGCTCCCAGAAGTTACAAGAATCCTGTTGGGATCTTTCTCGGCAAACTTCTCCAGCCAAAAGCAGCGGTCCTCCAGGAATGTCCAGTCAAAAAAGGTATGGGCCGCCCCATGAGACTGATGGACATGGACTAGCTGAGGCTACACAGTCATCCAAACCTGGTAGTGTTATGCTGAGACTTCCAGGCCAGGAGGATCATTCTTCTCAAAACCCCTTAATCATGAGGAGGCGTGTTCGTTCTTTTATCTCTCCCATTCCCAGTAAGAGACAGTCACAAGATGTAAAGAACAGTAGCACTGAAGATAAAGGTCGCCTCCTTCACTCATCAAAAGAAGGCGCTGATAAAGCATTCAATTCCTATGCCCATCTTTCTCACAGTCAGGATATCAAGTCTATCCCTAAGAGAGATTCCTCCAAGGACCTTCCAAGTCCAGATAGTAGAAACTGCCCTGCTGTTACCCTCACAAGCCCTGCTAAGACCAAAATACTGCCCCCACGGAAAGGACGGGGATTGAAATTGGAAGCTATAGTTCAGAAGATTACATCCCCAAATATTAGGAGGAGCGCATCTTCGAACAGTGCGGAGGCTGGGGGAGACACGGTTACGCTTGATGATATACTGTCTTTGAAGAGTGGTCCTCCTGAAGGTGGGAGTGTTGCTGTTCAGGATGCTGACATAGAGAAGAGAAAAGGTGAGGTGGCTTCGGACCTAGTCAGTCCAGCAAACCAGGAGTTGCACGTAGAGAAACCTCTTCCAAGGTCTTCAGAAGAGTGGCGTGGCAGCGTGGATGACAAAGTGAAGACAGAGACACATGCAGAAACAGTTACTGCCGGAAAGGAACCCCCTGGTGCCATGACATCCACAACCTCACAGAAGCCTGGTAGTAACCAAGGGAGACCAGATGGTTCCCTGGGTGGAACAGCACCTTTAATCTTTCCAGACTCAAAGAATGTACCTCCAGTGGGCATATTGGCCCCTGAGGCAAACCCCAAGGCTGAAGAGAAGGAGAACGATACAGTGACGATTTCACCGAAGCAAGAGGGTTTCCCTCCAAAGGGATATTTCCCATCAGGAAAGAAGAAGGGGAGACCCATTGGTAGTGTGAATAAGCAAAAGAAACAGCAGCAGCCACCGCCTCCACCCCCTCAGCCCCCACAGATACCAGAAGGTTCTGCAGATGGAGAGCCAAAGCCAAAAAAACAGAGGCAAAGGAGGGAGAGAAGGAAGCCTGGGGCCCAGCCGAGGAAGCGAAAAACCAAACAAGCAGTTCCCATTGTGGAACCCCAAGAACCTGAGATCAAACTAAAATATGCCACCCAGCCACTGGATAAAACTGATGCCAAGAACAAGTCTTTTTACCCTTACATCCATGTAGTAAATAAGTGTGAACTTGGAGCCGTTTGTACAATCATCAATGCTGAGGAAGAAGAACAGACCAAATTAGTGAGGGGCAGGAAGGGTCAGAGGTCACTGACCCCTCCACCTAGCAGCACTGAAAGCAAGGCGCTCCCGGCCTCGTCCTTTATGCTGCAGGGACCTGTTGTGACAGAGTCTTCGGTTATGGGGCACCTGGTTTGCTGTCTGTGTGGCAAGTGGGCCAGTTACCGGAACATGGGTGACCTCTTTGGACCTTTTTATCCCCAAGATTATGCAGCCACTCTCCCGAAGAATCCACCTCCTAAGAGGGCCACAGAAATGCAGAGCAAAGTTAAGGTACGGCACAAAAGTGCTTCTAATGGCTCCAAGACGGACACTGAGGAGGAGGAAGAGCAGCAGCAGCAGCAGAAGGAGCAGAGAAGCCTGGCCGCACACCCCAGGTTTAAGCGGCGCCACCGCTCGGAAGACTGTGGTGGAGGCCCTCGGTCCCTGTCCAGGGGGCTCCCTTGTAAAAAAGCAGCCACTGAGGGCAGCAGTGAAAAGACTGTTTTGGACTCGAAGCCCTCCGTGCCCACCACTTCAGAAGGTGGCCCTGAGCTGGAGTTACAAATCCCTGAACTACCTCTTGACAGCAATGAATTTTGGGTCCATGAGGGTTGTATTCTCTGGGCCAATGGAATCTACCTGGTTTGTGGCAGGCTCTATGGCCTGCAGGAAGCGCTGGAAATAGCCAGAGAGATG___AAATGTTCCCACTGCCAGGAGGCAGGCGCCACCTTGGGCTGCTACAACAAAGGCTGCTCCTTCCGATACCATTACCCGTGTGCCATTGATGCAG___ATTGTTTGCTACATGAGGAGAACTTCTCGGTGAGGTGCCCTAAGCACAAG___CCTCCCCTTCCGTGCCCTCTCCCCCCCTTGCAGAACAAGACCGCGAAAGGCAGCCTCAGCACAGAGCAGTCGGAGCGGGGGTGAGGGGGGCAGTGTGCTCGTGGGAATGGAAAGGACAGCAAGCACAG___GTGAGACTGTGGAGATGAGAAGGTGGTGGACACTCGTGATGGAATGGAAATCGTCCTACCGTGCAGCCACACCCTGCCCTGCCCCGCCCCGCCCCGCCCGCGTGCCTGCCCATGCCAGCACTTCCTTAAGTTCTCACATCACACTCAAACCAGTGACACCACAGGAAAGAAAGACCCAAGACGTTGGAATGGCTGTTTCCATGGACACAATCTCCATAGTGACAATGTGGGGGGAGGGGGGAGGGGTGGGATGATGGGGAAAGGGTGGGGGGAATTAAAAGGGAGGGATAAATATATATATATAAATCTATTTTTAGTCTGGAAAGACTTTGTTTAAATGAAAGGTGCGCTATCCCTTTTGATTCTGTTTTAAAATTATCTCGTTAAAGATCTCCAAATTTGTTCCGATGACAAGTGAAATTTAAATGTGAGATTGAACTGAACAAACCCTCATCTCATGAAGGACGGGGTGTGTGTGTGGCGTTGATCTTTAGCCTGTCTCACACCAGTTCAGAAAACACTAGACCCAGGATTGAAAAAGCAAACCACAGCAGAACCATCCTTTTGTCATTAATTTGTCTCAAAGTGGGAAGGTTTTGGGGGAGGGGGAAATACAGGGATGGTCCATGTTTTCAAGAGTAGGGGAATGATGTTTAAACACAAAAATAAATTTTTTTTCATTTCCAGAAACACTATTTATTTATGGTTTTTTTTTTTTAATTTTTTCTTTTTGGGGGTGAAATTGGCAGATGCCTGAGGTCATAGCTGTGTCCTGGGTCACTGTGGCTGGTGAGGACCTCAAGGACCCCATCAAGTGTACACAGCAGCAGCAAAATCAAGGGATGACCCTCCTCTGGGGCCCCCTGTCCTCAGCACATTCCAGGCAGCTGTGCCCTGACCCACAGGGACCCGTGGGGATGGGAGGAGGTCCAGGCCTGTGTTGCCAGAGCTGGCAGTGTGAGCTGTAGGCAGGGACGGGGAGGGACTGTCGCTGTGATCAGAGTGGGTTAAGCTGACCAGGAACACCCATTTAACCCCTTTTTCTTTTTGCTTTCATTTTTATAAAGGAAAAGAGGACCTGTCAGATAGGCAGCCCCATGCTACGTGATTCTTTATGTTGTGTTGTTTTGTTTTGTAAATTGTATAATTTTTAAATATCTGAGTTTTAAAAAAAGAAAAAAGTACAAAAAAATCTTGTTATGGCCTTAAGAAGGGGTTAGTGCATCTTTCAGGGGTCACTCTGCCATGGGGATAAAATAGCTGTTTCACAAACAGTTTTATTTAAAAAAACAAAAAACAAAAAAAATCAAAAAATCAAAAAAATAATAAACTTCATTTTAACCTTG)$ . 11CO018 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 5 1 21 621 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCC)AGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACC(CTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11CO018 ENSG00000173726.11 ENSG00000233018.1(5845),ENSG00000273416.1(923) -/- ./+ chr1:235128595 chr1:235103257 CDS/splice-site intergenic inversion 5 2 0 400 20 medium out-of-frame . MAS20_protein_import_receptor(100%)| . . ENSG00000173726.11 . ENST00000366607.5 . upstream upstream . ^(CTTTCTGTGTTCCTGGCCC)GCGGCCGTCGGGTGTGAGCTGCGCCGACCGCTCTGAGGGTTCGTGGCCCACCGCTCCTTCGCGGTCCCTGCCGCCACCGTCCACGCTCAGCGTTGTAGAGAAGATGGTGGGTCGGAACAGCGCCATCGCCGCCGGTGTATGCGGGGCCCTTTTCATTGGGTACTGCATCTACTTCGACCGCAAAAGACGAAGTGACCCCAACTTCAAGAACAGGCTTCGAGAAC|AAGCCATAAATCTGTACTCCAGGAAGCCAGAGGCATAGTATGAGGAGACAATCCCTATTCTGGGCTTGGCCCAGAATCAAACGCCTTTTTGCTAGAACAGCTGAGCTGGCTGAGGGAGCCGCCTGTCTCAGAGGAGCAGCTGGCATTTCAG___CACCACCACCACTGGGCTCCTCTCACGAACCTGTTGTAACGGGCCTCCCAGGTGACTGCTATCTCCTGACGCTGGGCCCACCACCACCTGGAAGCCCTCAGGCGCTG MVGRNSAIAAGVCGALFIGYCIYFDRKRRSDPNFKNRLRE|qainlysrkpea* 11CO018 ENSG00000112096.18 ENSG00000112096.18 -/- -/- chr6:159684959 chr6:159686579 CDS intron duplication 3 3 0 922 8 medium out-of-frame . . . . ENSG00000112096.18 ENSG00000112096.18 ENST00000538183.7 . upstream downstream . ^(ACTCGTGGCTGTGGTGGCTTCGGCAGCGGCTTCAGCAGATCGGCGGCATCAGCGGTAGCACCAGCACTAGCAGCATGTTGAGCCGGGCAGTGTGCGG___CACCAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCAGGCAGAAGCACAGCCTCCCCGACCTGCCCTACGACTACGGCGCCCTGGAACCTCACATCAACGCGCAGATCATGCAGCTGCACCACAGCAAGCACCACGCGGCCTACGTGAACAACCTGAACGTCACCGAGGAGAAGTACCAGGAGGCGTTGGCCAAGG___GAGATGTTACAGCCCAGATAGCTCTTCAGCCTGCACTGAAGTTCAATGGTGGTGGTCATAT)CAATCATAGCATTTTCTGGACAAACCTCAGCCCTAACGGTGGTGGAGAACCCAAAG___GGGAGTTGCTGGAAGCCATCAAACGTGACTTTGGTTCCTTTGACAAGTTTAAGGAGAAGCTGACGGCTGCATCTG|CCCATCCCGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACatTGC MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAAS|ahpgfk* 11CO018 ENSG00000112096.18 ENSG00000112096.18 -/- -/- chr6:159684959 chr6:159686579 CDS intron duplication 3 3 0 922 8 medium out-of-frame . Iron/manganese_superoxide_dismutases__C-terminal_domain(43%),Iron/manganese_superoxide_dismutases__alpha-hairpin_domain(100%)|Iron/manganese_superoxide_dismutases__C-terminal_domain(100%),Iron/manganese_superoxide_dismutases__alpha-hairpin_domain(100%) . . ENSG00000285441.1 ENSG00000285441.1 ENST00000546087.5 . upstream downstream . ^(AAAGCCGGGCTCAGACCACCTAGCAGTTCCGCCCCTGCCGCAGGCATTACCGATGGCGCCTCCCGGAGCCGGCCAATCAGGGGCCCCGGAGGAGAACACCTCCCTACGCCAACCAATGGGAGAGGCAGGCCACGCGATGGCTCTACCCCGGGAGCCAATCCAAGCACGAGGGACGGAGTGCGCACATCGGGAGAGGAGAGGGTGGGGCTGTAGCACCAGGTCAGGGAACGCGGGAGCCGCAGGGTTCCAGGGATCCCGCGGCTCCTCGCGGCTTGGCCTGACCGGCTTCCTCCACATACGCCCCTCTCCTACACAAGTCCGGCCCTCGGCGCTCCTGCCGAAGCAGCAGGCGCCTCGGACTCTGCGCGGCTCCCGCCGGCCACTCACCTATGATGGTCCGCGCCGCCGAGACGATGACCACAGGATCTGAGCCTGCATTCATCTTGCTTCTCCTGCCGCCGTCTGCCCTGCGCTGCCTGCAAGCTAGGCAAAGCTCCTCCTCGCAGCCCACAGGCCTGCCGCGGGCGGGACCTGAGGTAGCCCCGCCCCTCGCCCTCCACCTCCCCGCGCACCACCTCCCCGCGCATCCCACTGTGCGCAGGCGCAAGGCCGGAGCAGGGGCGGGCGGAGGCGCGCGGGGCGCGGGGCGCGGGGCGCGGGGCGGAAGTGAGGCCGGGGCGCGGGGCGCGGGGCGGAAGTGAGGCCGGGGTCTGGGCTTGCGGGCAGAACCGCGGACCTCGGACGCATTTACAGAGCGCCTGAAACCCCAGTGTTTCTGGACACCCCAATGTTGGAGTTCCCCGACTTGACGTCTTGGGCTTTTTTTTAAAAAATCTTAGGGTTTCTCGAAACAGTAAAGACTGGGGGGTGACAAAGACTTATCTCTCGTTCAGCTCAGGACTGGAATCCCACGGGCGAGAATCTCGAGTGCGAGCCCGGCCCGCGGCGGGTCTCAGCACAGCTCTGATGGGTCCTTTTGCTCTCGGCGGCTTCGGGAGGTCCTATGCGTTTCTCCTGGCGCCAGTCATTCGCTCGCGTGAGGGGCTTGCTAGGAGCGTCTCGGTGCGAGCCCCCTGCCTTCTAAGATCAACTCTGGCTGTGAACGGGTGAGGACGCCGGGAGCGTCTTAGCGTCACAAAAGTTCCTTTGGTTGACGTTTGGACAGTGAAAGGAGCATGTAACAAGTGGGGTCAGTTTTGTTTAAAACCCTTTCTGACTTCCCAGCCTCTTACTGGGCAAAGTTCATAATTTTTCTGAGCTTTCTAGGGTTTCCAGGCAAGCTTATGAGGGGCCACCGTTACAGCAACTTGTTGGGAACACCTGGATAGTGGAACAAGAAAGCTTTGTCACAAAGTCATGAAGGGGAAAACTGTTGACGGACCTGGAGAATCTTCCTGAAGAACTTTAAAGTTGATTGAAAGAATCATTAAATCCTGGAAACCTACATTAAGACTTTGCAGAGATATGCGGATGGGTCAGATAAATCAGAGAAG___AAACATTTCTCAAGTGTCTACATGTTCTAGAAGGGGAATTTTTCGGAGGTGGCCACTTCTTCGGAATAGTCCGACGCCATCAGGCCTCTGAAGCAAGGGGAAGGGGAAAAGAAAAAAGCTGAAACACAAGGTTCATCTG___TAGAGACAGCGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACATTGGCTTATGTTCTTTTTAAAAAGTTTGATG___CACCAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCAGGCAGAAGCACAGCCTCCCCGACCTGCCCTACGACTACGGCGCCCTGGAACCTCACATCAACGCGCAGATCATGCAGCTGCACCACAGCAAGCACCACGCGGCCTACGTGAACAACCTGAACGTCACCGAGGAGAAGTACCAGGAGGCGTTGGCCAAGG___GAGATGTTACAGCCCAGATAGCTCTTCAGCCTGCACTGAAGTTCAATGGTGGTGGTCATAT)CAATCATAGCATTTTCTGGACAAACCTCAGCCCTAACGGTGGTGGAGAACCCAAAG___GGGAGTTGCTGGAAGCCATCAAACGTGACTTTGGTTCCTTTGACAAGTTTAAGGAGAAGCTGACGGCTGCATCTG|CCCATCCCGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACatTGC MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAAS|ahpgfk* 11CO019 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 29 22 3 62 69 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(5),mismappers(1),mismatches(1) GGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCAT(TAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO019 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 8 16 1 48 32 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCT)GTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGG...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGGAAGAAGAGCCAGCCTAAACTGTCCACTTTCATGCCTGTTGATGAACGAGGAAGCCAGGAAAAGCTGGCCAAT MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsv 11CO019 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 20 0 25 102 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGC(TGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO019 ENSG00000103888.17 ENSG00000140406.4(54634),ENSG00000279834.1(531) +/+ ./+ chr15:80896060 chr15:81060422 CDS/splice-site intergenic deletion/read-through 14 7 0 124 22 high out-of-frame . G8_domain(100%),Interleukin-like_EMT_inducer(100%),Mucin-2_protein_WxxW_repeating_region(100%)| . . ENSG00000103888.17 . ENST00000220244.7 . downstream upstream duplicates(1) ^(AAAAGCGGCCTCTCGGCTGAGGGCCGGGGAGCTAGCGCTCAAGCAGAGCCCAGCGCGGTGCTATCGGACAGAGCCTGGCGAGCGCAAGCGGCGCGGGGAGCCAGCGGGGCTGAGCGCGGCCAGGGTCTGAACCCAGATTTCCCAGACTAGCTACCACTCCGCTTGCCCACGCCCCGGGAGCTCGCGGCGCCTGGCGGTCAGCGACCAGACGTCCGGGGCCGCTGCGCTCCTGGCCCGCGAGGCGTGACACTGTCTCGGCTACAGACCCAGAG___GGAGCACACTGCCAGGATGGGAGCTGCTGGGAGGCAGGACTTCCTCTTCAAGGCCATGCTGACCATCAGCTGGCTCACTCTGACCTGCTTCCCTGGGGCCACATCCACAG___TGGCTGCTGGGTGCCCTGACCAGAGCCCTGAGTTGCAACCCTGGAACCCTGGCCATGACCAAGACCACCATGTGCATATCGGCCAGGGCAAGACACTGCTGCTCACCTCTTCTGCCACGGTCTATTCCATCCACATCTCAGAGGGAG___GCAAGCTGGTCATTAAAGACCACGACGAGCCGATTGTTTTGCGAACCCGGCACATCCTGATTGACAACGGAGGAGAGCTGCATGCTGGGAGTGCCCTCTGCCCTTTCCAGGGCAATTTCACCATCATTTTGTATGGAAG___GGCTGATGAAGGTATTCAGCCGGATCCTTACTATGGTCTGAAGTACATTGGGGTTGGTAAAGGAGGCGCTCTTGAGTTGCATGGACAGAAAAAGCTCTCCTGGACATTTCTGAACAAGACCCTTCACCCAGGTGGCATGGCAGAAGGAGGCTATTTTTTTGAAAGGAGCTGGGGCCACCGTGGAGTTATTGTTCATGTCATCGACCCCAAATCAGGCACAGTCATCCATTCTGACCG___GTTTGACACCTATAGATCCAAGAAAGAGAGTGAACGTCTGGTCCAGTATTTGAACGCGGTGCCCGATGGCAGGATCCTTTCTGTTGCAGTGAATGATGAAGGTTCTCGAAATCTGGATGACATGGCCAGGAAGGCGATGACCAAATTGGGAAGCAAACACTTCCTGCACCTTGGATTTAG___ACACCCTTGGAGTTTTCTAACTGTGAAAGGAAATCCATCATCTTCAGTGGAAGACCATATTGAATATCATG___GACATCGAGGCTCTGCTGCTGCCCGGGTATTCAAATTGTTCCAGACAGAGCATGGCGAATATTTCAATGTTTCTTTGTCCAGTGAGTGGGTTCAAG___ACGTGGAGTGGACGGAGTGGTTCGATCATGATAAAGTATCTCAGACTAAAGGTGGGGAGAAAATTTCAGACCTCTGGAAAGCTCACCCAGGAAAAATATGCAATCGTCCCATTGATATACAG___GCCACTACAATGGATGGA)GTTAACCTCAGCACCGAGGTTGTCTACAAAAAAGGCCAGGATTATAGGTTTGCTTGCTACGACCGGGGCAGAGCCTGCCGGAGCTACCGTGTACGGTTCCTCTGTGGGAAGCCTG___TGAGGCCCAAACTCACAGTCACCATTGACACCAATGTGAACAGCACCATTCTGAACTTGGAGGATAATGTACAGTCATGGAAACCTGGAGATACCCTGGTCATTGCCAGTACTGATTACTCCATGTACCAGGCAGAAGAGTTCCAGGTGCTTCCCTGCAGATCCTGCGCCCCCAACCAGGTCAAAGTGGCAG|GTATTTGTGGCTGTGGAACAGTGAAAGTGATGTCAGGATGAAGTGTTCTTTGAAAGATTGGAAGAGTCACTTGTGAAAATATTGATGTGGTGCTTATTAGTAGTAGTATCTCTTTCACTTTTTAAAAAATAATTTTCCCTCTCCCAGCTTGTCTGAGTCTGTTGGCCCTCCC MGAAGRQDFLFKAMLTISWLTLTCFPGATSTVAAGCPDQSPELQPWNPGHDQDHHVHIGQGKTLLLTSSATVYSIHISEGGKLVIKDHDEPIVLRTRHILIDNGGELHAGSALCPFQGNFTIILYGRADEGIQPDPYYGLKYIGVGKGGALELHGQKKLSWTFLNKTLHPGGMAEGGYFFERSWGHRGVIVHVIDPKSGTVIHSDRFDTYRSKKESERLVQYLNAVPDGRILSVAVNDEGSRNLDDMARKAMTKLGSKHFLHLGFRHPWSFLTVKGNPSSSVEDHIEYHGHRGSAAARVFKLFQTEHGEYFNVSLSSEWVQDVEWTEWFDHDKVSQTKGGEKISDLWKAHPGKICNRPIDIQATTMDGVNLSTEVVYKKGQDYRFACYDRGRACRSYRVRFLCGKPVRPKLTVTIDTNVNSTILNLEDNVQSWKPGDTLVIASTDYSMYQAEEFQVLPCRSCAPNQVKVA|gicgcgtvkvmsg* 11CO019 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 7 5 1 20 17 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . TCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAAC(CTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO019 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 1 0 109 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGA)AGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO020 ENSG00000101333.16 ENSG00000088930.8 +/+ +/+ chr20:9339037 chr20:21339044 CDS/splice-site CDS/splice-site deletion 8 24 2 85 188 high in-frame . . . . ENSG00000101333.16 ENSG00000088930.8 ENST00000378473.7 ENST00000377191.5 downstream upstream duplicates(4) ^(AGTAAGTGAGCTGCACCGCCAACAAGATCTCTCACACACAGACACACACACGCACACGCACACACGGGCGCGCACACACACGCGCGTACACACTGGGTCTCCAGGCAGCGGCCGTCGCCGCATCCCCGGCAGCAGCTCCAGGCAAAGTGACAG___AGGACAGTGCTGCTGTGAGTTTGACGAAGTGGACATCACCTGCAGTCAGTCCAGAGCTGCCCA___GTCTTGAATATAATCATGGCCAAACCTTATGAATTTAACTGGCAGAAGGAAGTTCCCTCCTTTTTGCAAGAAGGAGCAGTTTTTGACAGATACGAGGAG___GAATCCTTTGTGTTTGAACCCAACTGCCTCTTCAAAGTGGATGA)GTTTGGCTTCTTTCTGACATGGAGAAGTGAAGGCAAG___GAAGGACAGGTGCTAGAATGCTCCCTCATCAACAGTATTCGGTCGGGAGCCATACCAAAG___GATCCCAAAATCTTGGCTGCTCTTGAAGCTGTTGGAAAATCAGAAAATGATCTGGAAGGGCGGATAGTTTGTGTCTGCAGTGGCACAGATCTAGTGAACATTAGTTTTACCTACATGGTGGCTGAAAATCCAGAAGTAACTAAG|GACAGTTTTAGAAGACGACAGAAAGAAAAAAGAAAGAGAATGAAG___AGAGATCAACCAGCTTTCACTCCTAGTGGAATATTAACTCCTCATGCCTTGGGTTCAAGAAATTCACCAGGTTCTCAAGTAGCCAGTAATCCGAGACAAGCAGCCTATGAAATGAGGATGCAGAATAACTCT___AGTCCTTCGATATCTCCTAATACGAGTTTCACATCTGATGGCTCCCCGTCTCCATTAGGAGGAATTAAGCGAAAAGCAGAAGACAGTGACAGT(GAACCTGAGCCAGAGGATAATGTCAG___GTTATGGGAAGCTGGCTGGAAGCAGCGGTACTACAAGAACAAATTTGATGTGGATGCAGCTGATGAGAAATTCCGTCGGAAAGTTGTGCAGTCGTACGTTGAAGGACTTTGCTGGGTTCTTAGATATTATTACCAG___GGCTGTGCTTCCTGGAAGTGGTATTATCCATTTCATTATGCACCATTTGCTTCAGACTTTGAAGGCATTGCAGACATGCCATCTGATTTTGAGAAGGGTACGAAACCG___TTTAAACCACTAGAACAACTTATGGGGGTATTTCCAGCTGCAAGTGGTAATTTTCTACCTCCATCATGGCGGAAGCTCATGAGTGATCCT___GATTCTAGTATAATTGACTTCTATCCTGAAGATTTTGCTATTGATTTGAATGGGAAGAAATATGCATGGCAAG___GTGTTGCTCTCTTGCCATTCGTGGATGAGCGAAGGCTACGAGCTGCCCTAGAAGAGGTATACCCAGACCTCACTCCAGAAGAGA___CCAGAAGAAACAGCCTTGGAGGTGATGTCTTATTTGTGGGGAAACATCACCCACTCCATGACTTCATTTTAGAGCTGTACCAGACAGGTTCCACAGAG___CCAGTGGAGGTACCCCCTGAACTATGTCATGGGATTCAAGGAAAGTTTTCTTTGGATGAAGAAGCCATTCTTCCAGATCA___AATAGTATGTTCTCCTGTTCCTATGTTAAGGGATCTGACACAGAACACTGTAGTCAG___TATTAATTTTAAAGACCCACAGTTTGCTGAAGATTACATTTTTAAAGCTGTAATGCTTCCAGGAGCAAG___AAAGCCAGCAGCAGTACTGAAACCTAGTGACTGGGAAAAATCCAGCAATGGACGGCAGTGGAAGCCTCAGCTTGGCTTTAACCGTGACCGGAGGCCTGTGCACCTGGATCAGGCAGCCTTCAGGACTTTGGG___CCATGTGATGCCAAGAGGCTCAGGAACTGGCATTTACAGCAATGCTGCACCACCACCTGTGACTTACCAGGGAAACTTATACAGGCCGCTTTTGAGAGGACAAGCCCAGATTCCAAAACTTATGTCAA___ATATGAGGCCCCAGGATTCCTGGCGAGGTCCTCCTCCCCTTTTCCAGCAGCAAAGGTTTGACAG___AGGCGTTGGGGCTGAACCTCTGCTCCCATGGAACCGGATGCTGCAAACCCAGAATGCAGCCTTCCAGCCAAACCAGTACCAGATGCTAGCTGGGCCTGGTGGGTATCCACCCAGACGAGATGATCGTGGAGGGAGACAG___GGATATCCCAGAGAAGGAAGGAAATACCCTTTGCCACCACCCTCAGGAAGATACAATTGGAATTAAGCTTTTGTAAAGCTTTCCCAAATCCTTTCATCATTCTACAGTTTTATGCTATTTGTGGAAAGATTTCTTTCTCAAGTAGTAGTTTTTAATAAAACTACAGTACTTTGTGTATTTCTTTTAACTGTGTATATTTCTACTGATCTGATCTCACTGTTTATGTTGCTTTCCAAAGATGTATGTTGCATAATACAGTGGATCTGAATTTATTATTGCTTATAAAACACATTTGATGGAATAGGAGTACTGGTTTTTCATAATGGTTAAAAATGAAACCAGCTGTGGATTTCAAAACACAGTGTATTCTAGATCATCTAAGATCCATGCTGATTTTTATTGCACAAGAATTAGGTTTGAACTCGAGCTGGAACCTCAGCAAACTAGAGTATATATTGTTCAGTATTTCTTTGGAAACATTTCATTAATGTACTTGTCTTACAGAAATTTCTGAACTTTAGTAAAAAAAAATAAAGTTAAACTTTTAAAACTC)$ MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVLECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPEVTK|DSFRRRQKEKRKRMKRDQPAFTPSGILTPHALGSRNSPGSQVASNPRQAAYEMRMQNNSSPSISPNTSFTSDGSPSPLGGIKRKAEDSDSEPEPEDNVRLWEAGWKQRYYKNKFDVDAADEKFRRKVVQSYVEGLCWVLRYYYQGCASWKWYYPFHYAPFASDFEGIADMPSDFEKGTKPFKPLEQLMGVFPAASGNFLPPSWRKLMSDPDSSIIDFYPEDFAIDLNGKKYAWQGVALLPFVDERRLRAALEEVYPDLTPEETRRNSLGGDVLFVGKHHPLHDFILELYQTGSTEPVEVPPELCHGIQGKFSLDEEAILPDQIVCSPVPMLRDLTQNTVVSINFKDPQFAEDYIFKAVMLPGARKPAAVLKPSDWEKSSNGRQWKPQLGFNRDRRPVHLDQAAFRTLGHVMPRGSGTGIYSNAAPPPVTYQGNLYRPLLRGQAQIPKLMSNMRPQDSWRGPPPLFQQQRFDRGVGAEPLLPWNRMLQTQNAAFQPNQYQMLAGPGGYPPRRDDRGGRQGYPREGRKYPLPPPSGRYNWN* 11CO020 ENSG00000254247.1(55275),ENSG00000254278.1(24792) ENSG00000184374.3 ./+ +/+ chr8:119038150 chr8:119089680 intergenic CDS/splice-site deletion/read-through 19 14 1 58 153 high . . |Collagen_triple_helix_repeat_(20_copies)(100%),Lectin_C-type_domain(100%) . . . ENSG00000184374.3 . ENST00000332843.3 downstream upstream mismappers(1),mismatches(1) TGTCTTCATCATTAACAAGTTATTCAGCACTGATAGTATGACACAAAACATGGGAAATTTCCTTCTGGAGAATGACTGGACTCTTGTGTCTTCATGAGATCCCAGCCCTAGAGCTGAAGCCATACTTAGCTCTGCTTTTCTAATGGGTTCTCCTATGCTCAGTCTCAG___GCTGTGCCTGATACATCCTTACACTTTGGAGAAGCAGCAAGAAAGTTGATTCTCGCTATTTGCTGTTGCTGAACACAGAGCATGAAAATCAACATA|GAGATGATGGTGAAAAAGGAGATCCAGGAGAAGAGGGAAAGCATGGCAAAGTGGGACGCATGGGGCCGAAAG___GAATTAAAGGAGAACTGGGTGATATGGGAGATCAGGGCAATATTGGCAAGACTGGGCCCATTGGGAAGAAGG___GTGACAAAGGGGAAAAAGGTTTGCTTGGAATACCTGGAGAAAAAGGCAAAGCAG___GTACTGTCTGTGATTGTGGAAGATACCGG(AAATTTGTTGGACAACTGGATATTAGTATTGCTCGGCTCAAGACATCTATGAAGTTTGTCAAGAATG___TGATAGCAGGGATTAGGGAAACTGAAGAGAAATTCTACTACATCGTGCAGGAAGAGAAGAACTACAGGGAATCCCTAACCCACTGCAGGATTCGGGGTGGAATGCTAGCCATGCCCAAGGATGAAGCTGCCAACACACTCATCGCTGACTATGTTGCCAAGAGTGGCTTCTTTCGGGTGTTCATTGGCGTGAATGACCTTGAAAGGGAGGGACAGTACATGTTCACAGACAACACTCCACTGCAGAACTATAGCAACTGGAATGAGGGGGAACCCAGCGACCCCTATGGTCATGAGGACTGTGTGGAGATGCTGAGCTCTGGCAGATGGAATGACACAGAGTGCCATCTTACCATGTACTTTGTCTGTGAGTTCATCAAGAAGAAAAAGTAACTTCCCTCATCCTACGTATTTGCTATTTTCCTGTGACCGTCATTACAGTTATTGTTATCCATCCTTTTTTTCCTGATTGTACTACATTTGATCTGAGTCAACATAGCTAGAAAATGCTAAACTGAGGTATGGAGCCTCCATCATCATGCTCTTTTGTGATGATTTTCATATTTTCACACATGGTATATTATTGACCCAATAACTCGCCAGGTTACATGGGTCTTGAGAGAGAATTTTAATTACTAATTGTGCACGAGATAGTTGGTTGTCTATATGTCAAATGAGTTGTTCTCTTGGTATTTGCTCTACCATCTCTCCCTAGAGCACTCTGTGTCTATCCCAGTGGATAATTTCCCAGTTTACTGGTGATGATTAGGAAGGTTGTTGATGGTTAGGCTAACCTGCCCTGGCCCAAAGCCAGACATGTACAAGGGCTTTCTGTGAGCAATGATAAGATCTTTGAATCCAAGATGCCCAGATCTTTTACCAGTCACACCCTATGGCCATGGCTATACTTGGAAGTTCTCCTTGTTGGCACAGACATAGAAATGCTTTAACCCCAAACCTTTATATGGGGGACTTCTAGCTTTGTGTCTTGTTTCAGACCATGTGGAATGATAAATACTCTTTTTGTGCTTCTGATCTATCGATTTCACTAACATATACCAAGTAGGTGCTTTGAACCCCTTTCTGTAGGCTCACACCTTAATCTCAGGCCCCTATATAGTCACACTTTGATTTAAGAAAAATGGAGCTCTTGAAATCAAAAGAAAAAAATGGGGAATTGTTCACAAACAATACTGGTTATAGTTCTCTTGCTAAATTGCCCACTGCTATTAACTTAACTTCATTTTTATTTATCTTAGGTTTACCTGCATCAATTTTATTCACCTTAGGCATAGGGAATGAGGGAAGGAGTTTGTGAAGCCTTAAGAAAATTCTGGAAGCTTCAAAGTGCTACCAACATCATCTCCAGGCCCCCTCATCCTTGCCTCTAACATATCACTAATGGTGACATTTCATGGGAGGCCTTTTACTCTTCATAAATATATGTCATAGAAATCCTACTGGAGATGTCCCTTCTAATACTCTGGCATCACAGAAATGTGTGAGGCACAGAATTCGGAACATGCTTAGAACTCACATTTACTGAGCTGGTAAAATTCTACCTTGAACTGTAGATCAAACCTCAAAGCAGCTTTCACTTGGAATTTAAAAATAAACAGTTCAAAGATACTCTAGATTATCACCCTATAAACTTCTACTCCAGTTATGGTTTCTGACATATGATTAGACTGTTTCAAATGCTGGCAAAATGGTTAATGAAGTAAGAGAAACAGATCAACAACATATGTTCACCTTAAACCATCTGTTCATGATTTCACCCGTGACTAACTGGTTATGAGATAGGACTTAATTAGGTTATTTCTGTGGGTTCAACAAGGGCCATAAACTCAGATCCTACAGGGGCCAGGCAGATGACTTACCTAAATGAAGTGGAACACGTGGGGACCCTAGTGCACTGAGCACAGCTTGCCCTTCCAAAGGAGCCAGCTGCTCCTCAGTGGCTGCTGCTGGTGCTAGGGAGGACCCAATCTTGCTAAATGTGCTGATATTTCAAGAGAAGTCAGAAAGCTGGGACTTTGTAACATAAGCTCATATTTTAATATGTTGGCAACTAATTAATTTTTAACCCAAATTTTAAGTGGGTTAAAAATTAATTAAAATTAAAGATTTGAGGTCAAAAGTCTTCTAGCTAAAGTTGTGATCATTTCATTTCTTACTTCTGGAGGAAGGTTCAGAAGGTTCTAACCAAATAGAATGTCATTAGGATATGATGACATGAAAGTCAAGATATCCCATTAATACCATATTCAATTCAGCTTAATAATAGGAATTTGTTATATGTTTGACATTTATCAGGTTACTAGTTAAACTCTTTTGAGATGATAGTACATGACACTTTAAAGGCAGAAAAGCTTAATAAAAATTACAAAGTAGGACATCAAACGCCAGTATCCTTGGATAGAAAGCCATCCCAGATCATGAGGAATGAAAACCTAGAAACACCTGTAGGAAAATAAAGCTCATATGTAAGAAGAGAGGAAGGAGAGACATGCAGCAAATGTTGCCTACGGGCAACTTCATGTTAAGGATCCATGTTCTGATTTGTTCTAAGCCCCCAAAGTATGAGTATTTATTGTGTGCACTGTTAGTGCTATTATTATTTACTGTGAATGTTATAATAATAGTTCTCTCAATGA)$ . 11CO020 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 14 2 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 mismappers(1) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAG(CCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO020 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 4 0 88 28 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|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO020 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 4 8 0 13 32 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream . TTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAG(ACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO020 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 6 1 26 16 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGG)GGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO020 ENSG00000250358.6(65443),ENSG00000134982.17(30003) ENSG00000134982.17 ./+ +/+ chr5:112707882 chr5:112754873 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 15 19 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 duplicates(1),mismatches(1) CGGGCCTCGGCGCCCCCTATGTACGCCTCCCTGGGCTCGGGTCCGGTCGCCCCTTTGCCCGCTTCTGTACCACCCTCAGTTCTCGGGTCCTGGAGCACCGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGGGCGGCGCTCGTACTTCTGGCCACTGGGCGAGCGTCTGGCAG|GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACT(ACAAGGAAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG___GGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAG___GTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGGCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA___TGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAG___GGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG___GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAG___GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAG___GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG___GCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAGGAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAATGAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTGAAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGATTGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCTGCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCAGGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAGATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACTGGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAACATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGCCCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCAGAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCTAGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGTTCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAACAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGACTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCTTCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAGTCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCTTCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAAACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGAAGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCAATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGAGTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCCAGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAAAGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTTTCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCAAAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGAATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCCCCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAATCAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAATCGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACCCCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGAGTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCTCGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACTGACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTGACATCTGTTTAAAAGAGAGGAAGAATGAAACTAAGAAAATTCTATGTTAATTACAACTGCTATATAGACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATTTTGTAAATAGGTTTGATTCTTGTTAGAGGGTTTTTGTTCTGGAAGCCATATTTGATAGTATACTTTGTCTTCACTGGTCTTATTTTGGGAGGCACTCTTGATGGTTAGGAAAAAAATAGTAAAGCCAAGTATGTTTGTACAGTATGTTTTACATGTATTTAAAGTAGCATCCCATCCCAACTTCCTTTAATTATTGCTTGTCTTAAAATAATGAACACTACAGATAGAAAATATGATATATTGCTGTTATCAATCATTTCTAGATTATAAACTGACTAAACTTACATCAGGGAAAAATTGGTATTTATGCAAAAAAAAATGTTTTTGTCCTTGTGAGTCCATCTAACATCATAATTAATCATGTGGCTGTGAAATTCACAGTAATATGGTTCCCGATGAACAAGTTTACCCAGCCTGCTTTGCTTTACTGCATGAATGAAACTGATGGTTCAATTTCAGAAGTAATGATTAACAGTTATGTGGTCACATGATGTGCATAGAGATAGCTACAGTGTAATAATTTACACTATTTTGTGCTCCAAACAAAACAAAAATCTGTGTAACTGTAAAACATTGAATGAAACTATTTTACCTGAACTAGATTTTATCTGAAAGTAGGTAGAATTTTTGCTATGCTGTAATTTGTTGTATATTCTGGTATTTGAGGTGAGATGGCTGCTCTTTTATTAATGAGACATGAATTGTGTCTCAACAGAAACTAAATGAACATTTCAGAATAAATTATTGCTGTATGTAAACTGTTACTGAAATTGGTATTTGTTTGAAGGGTCTTGTTTCACATTTGTATTAATAATTGTTTAAAATGCCTCTTTTAAAAGCTTATATAAATTTTTTTCTTCAGCTTCTATGCATTAAGAGTAAAATTCCTCTTACTGTAATAAAAACAATTGAAGAAGACTGTTGCCACTTAACCATTCCATGCGTTGGCACTTATCTATTCCTGAAATTTCTTTTATGTGATTAGCTCATCTTGATTTTTAATATTTTTCCACTTAAACTTTTTTTTCTTACTCCACTGGAGCTCAGTAAAAGTAAATTCATGTAATAGCAATGCAAGCAGCCTAGCACAGACTAAGCATTGAGCATAATAGGCCCACATAATTTCCTCTTTCTTAATATTATAGAATTCTGTACTTGAAATTGATTCTTAGACATTGCAGTCTCTTCGAGGCTTTACAGTGTAAACTGTCTTGCCCCTTCATCTTCTTGTTGCAACTGGGTCTGACATGAACACTTTTTATCACCCTGTATGTTAGGGCAAGATCTCAGCAGTGAAGTATAATCAGCACTTTGCCATGCTCAGAAAATTCAAATCACATGGAACTTTAGAGGTAGATTTAATACGATTAAGATATTCAGAAGTATATTTTAGAATCCCTGCCTGTTAAGGAAACTTTATTTGTGGTAGGTACAGTTCTGGGGTACATGTTAAGTGTCCCCTTATACAGTGGAGGGAAGTCTTCCTTCCTGAAGGAAAATAAACTGACACTTATTAACTAAGATAATTTACTTAATATATCTTCCCTGATTTGTTTTAAAAGATCAGAGGGTGACTGATGATACATGCATACATATTTGTTGAATAAATGAAAATTTATTTTTAGTGATAAGATTCATACACTCTGTATTTGGGGAGGGAAAACCTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGGTGCCTTGAAAATCACATCAAGTAGTTAATTATCTACCCCTTACCTGTGTTTATAACTTCCAGGTAATGAGAATGATTTTTTTTAAAGCTAAAATGCCAGTAAATAAAAGTGCTATGACTTGAGCTAAGATATTTGACTCCAATGCCTGTACTGTGTCTACTGCACCACTTTGTAAACACTTCAATTTACTATCTTTGAAATGATTGACCTTTAAATTTTTGCCAAATGTTATCTGAAATTGTCTATGAATACCATCTACTTCTGTTGTTTTCCCAGGCTTCCATAAACAATGGAGATACATGCA)$ . 11CO020 ENSG00000271793.1 ENSG00000217268.1(50963),ENSG00000223786.1(13676) -/- ./+ chr6:85612832 chr6:74055775 3'UTR/splice-site intergenic inversion 2 2 0 340 16 high . . . . . ENSG00000271793.1 . ENST00000503906.1 . upstream upstream . ^(ATTATTATGATTATTATGGTTATGATTACCATAACTATCGTGGTGGATATGAAGATCCATACTATGGTTATGAAGATTTTCAAGTTGGAGCTAGAGGAAGGGGTG)GTAGAGGAGCAAGGGGTGCTGCTCCATCCAGAGGTCGTGGGGCTGCTCCTCCCCGCGGTAGAGCCGGTTATTCACAGAGAGGAGGTCCTGGATCAGCAAGAGGCGTTCGAGGTGCGAGAGGAGGTGCCCAACAACAAAGAGGCCGCGGG___CAGGGAAAAGGGGTCGAGGCCGGTCCTGACCTGTTACAATGAAGACTGACTTGCTATGTGGGATTACACCAGAAGCTTGCAGTGGAGTAATG|AAAAGTTTGCCAACCATTGATCTTGATGATTTAACTCACCCTTGTACCAGTTTATGAGCAGAGAGCCTTACTCTGGAGCTCTTGGAGCTCCTGCCTGGATCCATGTTGGCAGAAGTGCCTCCCTGG___AGAAAGAAAAATTATCAAGGATAAAGGATGGGAATACATAGTGATAAAGGG . 11CO020 ENSG00000254247.1(26678),ENSG00000254278.1(53389) ENSG00000184374.3 ./+ +/+ chr8:119009553 chr8:119089680 intergenic CDS/splice-site deletion/read-through 2 4 0 13 153 medium . . |Collagen_triple_helix_repeat_(20_copies)(100%),Lectin_C-type_domain(100%) . . . ENSG00000184374.3 . ENST00000332843.3 downstream upstream . GCATAAGACATGATATTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACATAAAACC___GTGCTTGCTTCCTTTTCTGCTTCTCTGCCACGTAATGACACAGCACAAGGCCCTCACCAGAAGCCAAGCAGATGCCAGTGCCATGCTTTTTGGACTTCCCAGCCTCCAGAGCT|GAGATGATGGTGAAAAAGGAGATCCAGGAGAAGAGGGAAAGCATGGCAAAGTGGGACGCATGGGGCCGAAAG___GAATTAAAGGAGAACTGGGTGATATGGGAGATCAGGGCAATATTGGCAAGACTGGGCCCATTGGGA(AGAAGG___GTGACAAAGGGGAAAAAGGTTTGCTTGGAATACCTGGAGAAAAAGGCAAAGCAG___GTACTGTCTGTGATTGTGGAAGATACCGGAAATTTGTTGGACAACTGGATATTAGTATTGCTCGGCTCAAGACATCTATGAAGTTTGTCAAGAATG___TGATAGCAGGGATTAGGGAAACTGAAGAGAAATTCTACTACATCGTGCAGGAAGAGAAGAACTACAGGGAATCCCTAACCCACTGCAGGATTCGGGGTGGAATGCTAGCCATGCCCAAGGATGAAGCTGCCAACACACTCATCGCTGACTATGTTGCCAAGAGTGGCTTCTTTCGGGTGTTCATTGGCGTGAATGACCTTGAAAGGGAGGGACAGTACATGTTCACAGACAACACTCCACTGCAGAACTATAGCAACTGGAATGAGGGGGAACCCAGCGACCCCTATGGTCATGAGGACTGTGTGGAGATGCTGAGCTCTGGCAGATGGAATGACACAGAGTGCCATCTTACCATGTACTTTGTCTGTGAGTTCATCAAGAAGAAAAAGTAACTTCCCTCATCCTACGTATTTGCTATTTTCCTGTGACCGTCATTACAGTTATTGTTATCCATCCTTTTTTTCCTGATTGTACTACATTTGATCTGAGTCAACATAGCTAGAAAATGCTAAACTGAGGTATGGAGCCTCCATCATCATGCTCTTTTGTGATGATTTTCATATTTTCACACATGGTATATTATTGACCCAATAACTCGCCAGGTTACATGGGTCTTGAGAGAGAATTTTAATTACTAATTGTGCACGAGATAGTTGGTTGTCTATATGTCAAATGAGTTGTTCTCTTGGTATTTGCTCTACCATCTCTCCCTAGAGCACTCTGTGTCTATCCCAGTGGATAATTTCCCAGTTTACTGGTGATGATTAGGAAGGTTGTTGATGGTTAGGCTAACCTGCCCTGGCCCAAAGCCAGACATGTACAAGGGCTTTCTGTGAGCAATGATAAGATCTTTGAATCCAAGATGCCCAGATCTTTTACCAGTCACACCCTATGGCCATGGCTATACTTGGAAGTTCTCCTTGTTGGCACAGACATAGAAATGCTTTAACCCCAAACCTTTATATGGGGGACTTCTAGCTTTGTGTCTTGTTTCAGACCATGTGGAATGATAAATACTCTTTTTGTGCTTCTGATCTATCGATTTCACTAACATATACCAAGTAGGTGCTTTGAACCCCTTTCTGTAGGCTCACACCTTAATCTCAGGCCCCTATATAGTCACACTTTGATTTAAGAAAAATGGAGCTCTTGAAATCAAAAGAAAAAAATGGGGAATTGTTCACAAACAATACTGGTTATAGTTCTCTTGCTAAATTGCCCACTGCTATTAACTTAACTTCATTTTTATTTATCTTAGGTTTACCTGCATCAATTTTATTCACCTTAGGCATAGGGAATGAGGGAAGGAGTTTGTGAAGCCTTAAGAAAATTCTGGAAGCTTCAAAGTGCTACCAACATCATCTCCAGGCCCCCTCATCCTTGCCTCTAACATATCACTAATGGTGACATTTCATGGGAGGCCTTTTACTCTTCATAAATATATGTCATAGAAATCCTACTGGAGATGTCCCTTCTAATACTCTGGCATCACAGAAATGTGTGAGGCACAGAATTCGGAACATGCTTAGAACTCACATTTACTGAGCTGGTAAAATTCTACCTTGAACTGTAGATCAAACCTCAAAGCAGCTTTCACTTGGAATTTAAAAATAAACAGTTCAAAGATACTCTAGATTATCACCCTATAAACTTCTACTCCAGTTATGGTTTCTGACATATGATTAGACTGTTTCAAATGCTGGCAAAATGGTTAATGAAGTAAGAGAAACAGATCAACAACATATGTTCACCTTAAACCATCTGTTCATGATTTCACCCGTGACTAACTGGTTATGAGATAGGACTTAATTAGGTTATTTCTGTGGGTTCAACAAGGGCCATAAACTCAGATCCTACAGGGGCCAGGCAGATGACTTACCTAAATGAAGTGGAACACGTGGGGACCCTAGTGCACTGAGCACAGCTTGCCCTTCCAAAGGAGCCAGCTGCTCCTCAGTGGCTGCTGCTGGTGCTAGGGAGGACCCAATCTTGCTAAATGTGCTGATATTTCAAGAGAAGTCAGAAAGCTGGGACTTTGTAACATAAGCTCATATTTTAATATGTTGGCAACTAATTAATTTTTAACCCAAATTTTAAGTGGGTTAAAAATTAATTAAAATTAAAGATTTGAGGTCAAAAGTCTTCTAGCTAAAGTTGTGATCATTTCATTTCTTACTTCTGGAGGAAGGTTCAGAAGGTTCTAACCAAATAGAATGTCATTAGGATATGATGACATGAAAGTCAAGATATCCCATTAATACCATATTCAATTCAGCTTAATAATAGGAATTTGTTATATGTTTGACATTTATCAGGTTACTAGTTAAACTCTTTTGAGATGATAGTACATGACACTTTAAAGGCAGAAAAGCTTAATAAAAATTACAAAGTAGGACATCAAACGCCAGTATCCTTGGATAGAAAGCCATCCCAGATCATGAGGAATGAAAACCTAGAAACACCTGTAGGAAAATAAAGCTCATATGTAAGAAGAGAGGAAGGAGAGACATGCAGCAAATGTTGCCTACGGGCAACTTCATGTTAAGGATCCATGTTCTGATTTGTTCTAAGCCCCCAAAGTATGAGTATTTATTGTGTGCACTGTTAGTGCTATTATTATTTACTGTGAATGTTATAATAATAGTTCTCTCAATGA)$ . 11CO021 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 13 1 174 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) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGG)CTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG...___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO021 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 12 0 29 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(3),low_entropy(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGAC(GCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO021 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 19 0 28 176 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2),mismatches(1) CGCTAGGCTTCtCCTCAAACTTaGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACtACGCCCACGCcCTCGGATGGGGCTTGTTaCCTAGaTCGGcAGCGTGTGGGCAGCAGCAGC?GC?GC?GCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGG(AACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO021 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 11 6 0 48 23 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismappers(1) AGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...ATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGAC(CGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO021 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 8 0 33 24 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),mismatches(1) AGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCG(CAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO021 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 9 0 18 40 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream mismatches(2) AGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGC(TGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO021 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 10 0 22 19 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAG)GCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecd 11CO021 ENSG00000177694.16 ENSG00000177694.16(12550),ENSG00000260217.1(115831) +/+ ./+ chr3:175324325 chr3:175823098 CDS/splice-site intergenic deletion 1 6 0 27 14 high out-of-frame . . . . ENSG00000177694.16 . ENST00000454872.6 . downstream upstream mismappers(2),mismatches(1) ^(AGAAGGTCACAAAGCTTGCAGGGTAAGTGACACAACTTGAAACTGCTTGGCCCTCTTTAAAAAGAAATAATAAAATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAG___GTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTACTTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAGAATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGACTACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATTTTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAAGATATTAAGAAGTCTTTCAG___AAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAAGATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAGCCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAG___GCTGAAGTCATCGATGTGAGTTATGGAATGGCAGATGATTTAAAAAGGATTAGGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTA)GGAAAATTGCCACTGCTTTATAAG___CTTTCCTCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAATCCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCG|ACTCAGCCTGCCTGTACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACACGCGTGAAAGGAAGAGAAAGGGAAGAACACACCTCTATGTGCTTGAACACTAAAGCCCGGAGAAAGCTCTATCTCACGTG___GACAAATACCATGAGAAGAAAAAGGGAACAGAAGACAGGAGAGGAATCTGGGAAATACAACAAACCTCCTCCCTTTCTCATCCTTCTGCTCCAAGCCATTGGAGACAAAGGTTTCTGTACTGGAGAAAGAAGGAAG MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESDYITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLEDVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLSSLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSV|dsaclypgeinslvahtkpvwwslhtdtrerkrkgrthlyvleh* 11CO021 ENSG00000144366.16 ENSG00000213201.3(8163),ENSG00000184898.7(53182) +/+ ./+ chr2:188383889 chr2:151194758 5'UTR/splice-site intergenic duplication 1 1 0 28 4 high . . . . . ENSG00000144366.16 . ENST00000409830.6 . downstream upstream . ^(GTTCCCGGCCGGGAGCGACCCGGAGTCCCCAGCCCCGCGTCCCAGCTGCCGCCAGCGCCAGTTTTGGATTCGGCGGATTAGGAAGAGGAGGGAGGGGGGAGAGAGCGCGAAGAGGGAGGGGACCGAAGCTGGAGGGTCCCGAGTCCAGCGCCGTGTTGGCGTAGAGAAACTTTCCCTCTCGGCCTCGGAGACGGCGCCCCGGCCGTGCCGGAGTGGAGATCGCCAGGCTCGGAGGAACCGGCAGCTCTCCACGCCCCTGCCCGAAGCCTGACCCGACTGCCTCTCTCAGTGAG___TT)ATTTATGATTCCATCTGATATACATAGGAGAGAAACTGATAGAAGAATTCTGATGGCAACTGTATGATAGAAGCTATATAAAGTCAAGTGTCCATTTTCTTTCAACTATATTTGAGCATACCCAG|ATAGATCCGGCCTAAATGACTGTTTTAGAAGAAAGTGGATATTCCACCAGTCAATCAAGAAATTTCCACAGAAGATAAAAGGCAAGCAGATTGAATATGGGAATTTACCCAATTCCAAGAGAATTTGTTGTGTCCTGCAATCATTTGGTTTTACATCTGTGTCCCATCTAGGAGCAGTCAtCCAGTCATTTAACCAAAT . 11CO021 ENSG00000166716.10 ENSG00000136383.6 +/+ +/+ chr15:84784215 chr15:84859688 CDS intron deletion/read-through 20 2 0 86 44 medium in-frame . |Alpha-kinase_family(100%) . . ENSG00000166716.10 ENSG00000136383.6 ENST00000560079.7 ENST00000258888.5 downstream upstream duplicates(1),mismappers(1),mismatches(13) ^(GTGGCTCCCGCAGCCGGCGCTGGGGACGCGCGCGGCCGAGACTCTGGCCTGCAGTCGCCGCCGCCGCCGCCAG___GTGGTGTTTGGACTCTAGACCATGTGCCTAGGTAGAAGTTTTTCCTTTCTCCGCAGCTCTGCTCCCCTAGCAACGCTCGCCACACCCTTGTTTTGAGATCCTCTCTAAG___GAGCGGAGAGTTTAATAGGCAAGAAGGAAGGGAGAAGACAGAAGGAAGACGCTCCCCCGTACGGAGACAGAGGGAGGGGGGGCTCCAAAGCCGAAAGAGGAGGTCCCTACCTGCCACGGATACCAGTCAG___CCCTTGCCAGCATCCAGCCATGGGGGATATGAAAACCCCAGATTTTGATGACCTTCTGGCTGCCTTTGACATCCCAGACCCCACCAGCCTTGATGCCAAGGAGGCCATCCAGACACCCAGTGAGGAGAATGAGAGTCCCCTCAAACCTCCAGGCATATGTATGGATGAAAGTGTGTCCTTGTCTCACTCAGGATCAGCCCCCGATGTGCCGGCCGTGAGTGTCATTGTCAAGAACACCAGCCGCCAGGAGTCATTTGAAGCGGAGAAAGACCACATTACTCCCAGTCTCCTACACAATGGATTCCGGGGCTCAGATCTGCCTCCAGATCCCCACAACTGTGGGAAATTTGATTCTACTTTTATGAATGGAGACAGTGCCAGGAGTTTCCCTGGCAAACTGGAGCCTCCCAAGTCAGAGCCATTACCCACCTTCAACCAGTTCAGTCCAATCTCCAGCCCAGAACCTGAGGATCCCATCAAAGATAACGGATTTGGGATAAAGCCCAAACACTCTGACAGTTATTTCCCACCCCCTCTTGGGTGCGGGGCTGTGGGAGGCCCAGTCCTGGAGGCTCTGGCTAAGTTTCCGGTTCCAGAGCTGCATATGTTTGATCATTTTTGTAAGAAAGAACCCAAGCCAGAACCCCTGCCCTTGGGGAGCCAGCAGGAACACGAGCAAAGTGGGCAGAACACAGTGGAACCTCACAAGGATCCGGATGCCACTCGATTCTTCGGGGAAGCTTTGGAGTTCAACAGCCATCCTAGCAACAGTATTGGAGAGTCCAAGGGGCTTGCCCGGGAGCTTGGTACCTGCTCATCAGTCCCCCCTAGGCAGCGTCTAAAGCCAGCTCATTCCAAGCTGTCCTCTTGTGTGGCAGCCTTGGTGGCCTTGCAGGCCAAAAGAGTGGCTAGTGTCACTAAGGAGGATCAGCCTGGCCACACAAAGGATCTCTCAGGGCCCACTAAAGAGAGTTCTAAAGGTAGCCCCAAAATGCCCAAGTCACCAAAGAGTCCCCGGAGCCCTCTGGAGGCCACTAGAAAAAGTATCAAGCCATCGGACAGCCCTCGTAGCATCTGCAGTGACAGCAGCAGCAAAGGCTCACCGTCTGTGGCTGCCAGCTCCCCACCAGCAATTCCCAAAGTGAGAATCAAAACCATTAAGACATCATCAGGGGAAATCAAACGGACTGTCACAAGGATC)CTGCCAGATCCTGATGATCCAAGTAAGTCCCCTGTTGGGTCACCTCTAGGGAGCGCCATTGCAGAGGCCCCCAGCGAGATGCCAGGGGATGAGGTGCCTGTGGAAGAGCACTTTCCTGAGGCAGGCACAAATTCAGGGAGCCCCCAGGGGGCCAGGAAAGGGGACGAGAGCATGACAAAGGCCAGTGACTCGTCATCTCCCAGCTGCAGTTCTGGGCCCCGGGTCCCAAAGGGGGCTGCCCCAGGCTCACAGACAGGCAAGAAGCAACAGAGCACAGCACTGCAGGCATCCACCCTGGCCCCTGCCAACCTCCTGCCCAAAGCCGTGCACTTGGCCAACCTGAACCTCGTCCCC|acag|CAGCCTCTGAGAGTGGGGTCCAAGGACGCTTAGGACCACAGTCTGCCCCCATGCCATGGCCCTCACGAGTAGGGTCTCCACTCTGCAGCGCAGGGGATGAGGGGCCGGCGGCCTTGGCCATCGTGCAGGCCTCCCCCGTAGACTGCGGTGTGTATCGGTGCACCATCCACAATGAGCACGGCTCGGCCTCCACCGACTTCTGCCTCAGCCCTGAG(G___TGTTGTCAGGATTCATCTCCAGAGAAGAAGGTGAAG___TTGGAGAAGAGATTGAGATGACCCCTATGGTGTTTGCTAAGGGTCTGGCTGACTCTGGCTGCTGGGGGGACAAGCTCTTTGGGCGACTGGTAAGCGAGGAGCTCCGAGGGGGTGGATATGGGTGTGGCCTTCGGAAGGCCTCCCAGGCCAAGGTCATCTACGGGCTGGAACCCATCTTCGAGTCGGGCCGCACGTGCATCATCAAGGTGTCCAGCCTGCTTGTGTTTGGGCCCAGCAGTGAGACTTCTCTTGTGGGCAGAAACTACGACGTCACCATCCAG___GGGTGCAAGATCCAGAACATGAGTCGGGAGTACTGCAAAATCTTCGCAGCAGAAGCCCGGGCCGCGCCTGGCTTTGGGGAGGTGCCTGA___GATCATCCCACTGTATCTGATCTACCGGCCTGCAAACAATATCCCATATGCTACCCTGGAGGAAGACCTGGGCAAGCCCCTGGAGTCTTACTGTTCTCGGGAATGGGGCTGTGCTGAGGCTCCGACAGCATCTGGCAGCTCTGAGGCCATGCAGAAATGCCAGACCTTCCAACACTGGCTGTATCAGTGGACAAATGGCAGCTTCCTTGTCACAGACTTGGCAG___GGGTTGACTGGAAGATGACTGATGTGCAGATTGCTACCAAACTCCGAGG___ATACCAGGGCCTCAAGGAAAGCTGCTTCCCTGCCCTGCTGGACCGGTTCGCCTCCTCCCACCAGTGCAATGCCTACTGTGAGCTGCTGGGGCTGACACCTCTCAAGGGCCCGGAGGCGGCCCACCCCCAAGCCAAAGCCAAAGGCTCTAAGAGTCCATCTGCTGGCAGGAAAGGCTCCCAGCTGAGTCCTCAGCCCCAGAAGAAAGGCCTCCCTAGTCCTCAGGGCACCCGGAAGAGTGCTCCAAGTTCCAAGGCCACCCCTCAGGCCTCAGAGCCAGTCACCACTCAGTTGTTGGGACAGCCTCCCACCCAAGAGGAGGGCTCCAAGGCCCAGGGCATGCGGTAGCCTCCGCAGAGGCTGGGGGCCTCCACCCAGCAGCAGACCAACCAGGAAGCAGCTTGAACTGGATGGAGACTTTCCAAATATGGAACTAACTGGAGAAGGTGCACGAAGGAGACACCACTTGGGGACCTCTCTGAGCAGGCTCTCGTGAATCAGCTCGTCATCAGATGGCTTTGGTGCATGGCACATAGCCCACTGGCCTCTTCTGGTGCCACTGTCACCCAGGGCTCCCGGGCCTCAAGCAGTCCCCACCTCCAAGTGCCTGGCAACCTAGGCCCTCCTTGAAGTTTACACTTTGCCACTGCTGGAGGCTCCCCTGAGTCCTCTGCATGAGTTCTGCACCCCAAGCCCTTGCCCCAGCCCAGTCCAGCAGCAGATGTTACAATCTGAGTGAGGACATGCAGGCCAACTTTTACCCTCCTGCATTTGCCTGGCCCTGATCTCGCCTGTCCTCAGGGATCCAGACTTCCTCTGCTGGTCTGGCCTGGTGACTCTCAGGGTATCTTCTCCTTCCAGCTACTTTCGCTCACTGATCTCAGCTTATCCTGCAACTAACCATCCTTGAGCCCAGATGGGGCTCAGGGCCCTTCCAGAGCCTGTCATGTCCTTGTGCAGTGGCCTTTGATGTGTGTTCACGCTCTTCCCCCTTCACTCACTCGCCTGCTTCCCATGCTCCCTTGTACCCCCTCGCCACATCCCTGTCTTGGGGCCCAGCTGCAGCCTGCTGCCTGCCCTTCATGGCTCTGCACATGGCCCTTTGCTTGAGGGCTCCCCACTCCCTGCCCACCAATACCCAGGTGAGGAACAGACCCTCTGGCCTCTCACCCCACTTCAGTGCTCTCTTCCCCAACTTCTCTCGGGCTCTTTGCTCATGAGGTGAGAGCTGGTGTGAGGGTTGTGTCAGCAGCTGTAGCCAGAGAGAGGTGTTGACTCTGAGAGACCTTGCACTCCATACTGAAAGGAGGTGGGGTCACAGTGAATTTCACATCCCCTCTCAACCAGGAGTGGAGGGCTAGGTCCCTTCCCCATGGGGAGTACACTTGGGTGTTCTAGGAGGGATGCAGTCTATCCATGCACTTGGGTGGAGGGGAGTCTCTGTGCCTGGGAATTAGGACCCCTGCTCCAACCATCGCTCTTGATCCTGGGGCCCCAGCTCTGGGTCCTCATGTATGGGCTCCCAAGGACCCAGCAGCCTGGATCCTTCCAGAGCATCCCTCCTGGAGGCCTGGGATGGGGTAGGTCTGCAGCTAGCCTACTCCCTTTGGAATGCAATAAAGGCAGCATTGTGTGCCCTGCTTGCCCTCATCTGGTGTGGTTGGAGGTCTGTGGAGTCAAGGTCCCCCTCTCCCAGGCAGGCTCTCTGAGGGCATTCTGTAGTCCCAGGCCCACTGGAAAAATGAATCTATATTTTGGTTCCTGGACCGAAGTTCAGTCGCAGCCTTCTGTGGCCACAGAAAGACAGCTTGTGCTGCTTGCACAACTGAGCTGCTGGTGTGTACCCCTTAGCAGGGTGTCTGGGGACTTACGCCTTTGGAATTGCTCTTCATTCAGAAGAGGAACACAAAGGAAGCCACCCAGGAAGGAAGCACAGAGCTGGGGGCTCTGGAAACGCCCTGTGTCTCTGGCTACAGCAAGACCAGCCCAGGAGCCCACCAGCACCTGCCTCTCAGCTACTTGCTGACCATTTCCTGCTTCTCAAGCTGCAGAGAAGCTTTTCATTCCCACCCCCACCCGGAACCTCCCCTTGCCTAACATTTCCCCTCTATGGTAACATCTCTGACTTCTCTACCTCCTCTGTGCTCAGGTGACTCCACATCTTCTGCCCCAGTGTGTCCCCACCTCTCCCAGCCTGTATACCCAGATTACTTTGGTGAACTGAGAGCTGGAGTACTGTTCATTCATTTATTCATTCACCCACTCATTCAGCAGACATATACTGAGTGCTACTTTATGCCAGACCCTGGGCTGGCAGCTGTTTGGAGGCAAAGATGTATGAGGCCATCTCAGGAGAGACTACTTGTTAGGATTCTTGAGTTTTGACCAACAGAAATGAACTTGGACCAACTTAAGCAAGGAAAAAGCGTTCATGGGAAGGATGCTGGGATAGCTCACAAAACCAAAAGAATAGCTGAACAATTAATTGGCCCTGGGAAGGGTGGGAGCTGGGGCAACTACGAGGCTTGCCTCCCAGGAGCTGCTGCGGTTGGCAGATCAACACCAACTTGCCATTGGTTCTAGTGGGTCCCCTTCCACTCAAGATTCAAATTCCAAGTGAAAGAACCTGGCCTGGAGCTCAGGGCTTCATAGAGTGGGAGGGGGGCAGTCTTCCAAAAGATGCGGACTCTTGCCACATGGAATGGTGGAGTACGGAAGGGTGGAAAGGGTTTGGTAGGTAAACCCTGAAGATGCTTCTAACACACGTGCTGTTCTCCCATCTCACGTATGACGACTCTCCCACAGGTAACCAAAACCACATTTCTCTCTGCTTAGGGAATTCAAGATCATATCTAACTTCGAATTCCAGGGGTAATGACACGGCTTCTATTCTCCAAAGTCCAGTGTCATTAGGGATAATCTCCCTCTTTCAGTTTTATCACAATTCCATTTTGAAATTCTACAACCTGTAGATTAACTGGTAAAATTAACCATATTCAACCAAAATTGTATAACCCAGCAAGAATGGAAGAATGGGTAAAGTCTACAGTCCATTTCTAGAACTGGTCATGAGAACTCATGTTTATGATGATGGACTTTTGATCTGGTGGAGGGACCCAAACCTTCAGTTCTGAAGCTCATTAGTGGTCCTACCTGTGTGACAGGCATTTACTATTGGACTGGCAGTCCCAGGACAAACTCCAGGAATCCCCCCATGTCCATCTCTACTCCTGCCCTCTTTTACGTAGCAGCAATCATATTTTCCCTTGATAGGGTTCATCATTCTAGATACTCCGATGACTTCTTTATAATGAGCCTGAAGTGGCCTGGTGGCTGCCTCAGCTTCCAGTTCAGTTGAATAGCTACTACGTCTTTGAGGATGTGCTCCTTGCTGGGGGACTAAACTCTCCACGCCAGCCCAGTCCCAAACCTAAACCTCGGGTATGAGAAAAGCATTGAGATCTAGCAATAGCAGGGCCATGTCCACACTGCGTCCTATCCCTGAAGGAGAAACAGCGCCAGGTATGGTTGCCGGCTCCAAGCGCATGCTGCCTCCTGCAGGCCTGACCCAGCCTCTCGGGGTGTTGTTTCTGGTGCCATAGTTGAATTTTCAACAAACCATTTCACCACCCTCTCAAGACAGCTGCTGCTGGTTTGTGGGTTCCTGACAAGATGAGTGAATGCCTGCCCATCAACCCGTTACTATTCTTTTAGCTGTAAAGTGAATTCTCTGGTTGGGTGCAGTATGTGAGGAGGTCACATGATGTTTATGGCATTTGAGAATTCCATGGATATTGATGGCAGGAGAGGCATGATGGGTTAGAAAAGCAAATCCAAATCCAGAACAAGGGCCCAAAAGGGCCAAGACAAATTACTGCCCCTCTCAGAGCCACAGGTGTAGACAGGTGAAAACACTGGACAGTGAGTGAGCTACCCACACACGACCCACTGGTGCCTTCAGAGCCTTAGCCTGGAGCGACAGTGTACCGTTGATAATGGAACGCACTGGCCATGCCAGACTTTATGGCTAGGCGGTCAGATAACACTACGAGGGGCAGCATGGCCACCAAGTGTGCCAGGGCCAAGTGTTCAGGCTCTCCCAGAGCCCAGTGGTGAGCCAGAAGGGCATTTTGTACAAGGATAATGGTTACTTTTTGGCCAGAGCATCACTTGGCTCCAAATCCTGGGTTCCCGTATCATATTTTCTTGTCAGGACTTACCGCAAGCTATGTATGGCTCCGCGGTATGCCACCCATGGAAAGACACCTCATGCACCATTGACCTGCCAGGTCACGTGGCCTGATGGCAGCGTCGGCTGCACAAAAGACTTTCCCAGCTGCAATGCCTTCGCCTGCTCTAGGCCCACCCCAAAGCTGGCAGTCTTCTAGGTCAGTTGGTAAATGGGTTAGAACAAGATGCCCCAAAGTGGCATAAATTGCATGGAATTAGGCCTTAGTGGCGAGGGATTCGACATACAGTCATTTGTCCTACATTGTGAAGGAAACATTCTGACCTCAAACAGATCCCTCAACCCCAGAACTTTATAGAAGGGGCAGACCTTGGCATTTTCACATGATTTATCTCCCACTCTGATTCACATATGTTTGACCAAGGCACTGGGCAGCTGCCAATTTCCCGTCCCTTCTGTAGTCCCAGATGAATGGATACAGACCTCTTTGGGGAAGGCTGCAAGGAAGGTTCACAACATGCATCTAAGTGTTAAAATAAGTTTTTCCTTCAAAAATACATTTGACTTCCTCTCCATTTAAGGTCTGGAAATCAAGTGGGAGATCTTGACTTTACCTTGGCACTTGAGACAGAACTGTTGGCCCAGAAGTCTTTAGTTAAGGTCATTACTAGGCCATATCTTAGGGGCGTCTGGCCTTTTTCATTCCTGGGACCCACAGCTCGAGGTCTGGTTTCCATGCCCTATCCCTTACGATGAGCGCCCTATTTTGTTCCTTCTGTCTATCTCTGTTGCTGAGATCAGGGAGCCCACGTTCACAGCAGCTCTTTCAAGCAGCCTCCCAGGCCTAGAGAGGAAAATCAGCAGAGCCTCGTGAATGTATTTCTCGTGGCAAGAAGGGAGCTCATCTTCTGGGTCCTGCCAGAGGGCAGTGAGGGGGTTGATGGGCTGGGTGCATGCCAGGGACCCAATCAAGCATTTTTATCTTCTGAAATCTTTGAATTCCTGCCTTTCTTGGATGTTTGGTCTTTTGATATAATTTAGCATGGGCCAACATTTGGTCCAGATTTGTATTAGCCAAGCCCTCCTAAAATAGTAATAACAGTATCTGGCGATTTGAGCTTTTACGTAGAATGTAGAATCTCTGGTGAGTGAACATATCAATAAAGACAACCTGAACCAAAATTA)$ MGDMKTPDFDDLLAAFDIPDPTSLDAKEAIQTPSEENESPLKPPGICMDESVSLSHSGSAPDVPAVSVIVKNTSRQESFEAEKDHITPSLLHNGFRGSDLPPDPHNCGKFDSTFMNGDSARSFPGKLEPPKSEPLPTFNQFSPISSPEPEDPIKDNGFGIKPKHSDSYFPPPLGCGAVGGPVLEALAKFPVPELHMFDHFCKKEPKPEPLPLGSQQEHEQSGQNTVEPHKDPDATRFFGEALEFNSHPSNSIGESKGLARELGTCSSVPPRQRLKPAHSKLSSCVAALVALQAKRVASVTKEDQPGHTKDLSGPTKESSKGSPKMPKSPKSPRSPLEATRKSIKPSDSPRSICSDSSSKGSPSVAASSPPAIPKVRIKTIKTSSGEIKRTVTRILPDPDDPSKSPVGSPLGSAIAEAPSEMPGDEVPVEEHFPEAGTNSGSPQGARKGDESMTKASDSSSPSCSSGPRVPKGAAPGSQTGKKQQSTALQASTLAPANLLPKAVHLANLNLVP|t|aasesgvqgrlgpqsapmpwpsrvgsplcSAGDEGPAALAIVQASPVDCGVYRCTIHNEHGSASTDFCLSPEVLSGFISREEGEVGEEIEMTPMVFAKGLADSGCWGDKLFGRLVSEELRGGGYGCGLRKASQAKVIYGLEPIFESGRTCIIKVSSLLVFGPSSETSLVGRNYDVTIQGCKIQNMSREYCKIFAAEARAAPGFGEVPEIIPLYLIYRPANNIPYATLEEDLGKPLESYCSREWGCAEAPTASGSSEAMQKCQTFQHWLYQWTNGSFLVTDLAGVDWKMTDVQIATKLRGYQGLKESCFPALLDRFASSHQCNAYCELLGLTPLKGPEAAHPQAKAKGSKSPSAGRKGSQLSPQPQKKGLPSPQGTRKSAPSSKATPQASEPVTTQLLGQPPTQEEGSKAQGMR* 11CO021 ENSG00000082269.16 ENSG00000217631.1(57922),ENSG00000252457.1(13084) +/+ ./+ chr6:70536411 chr6:49331716 CDS/splice-site intergenic duplication 0 3 0 53 4 medium out-of-frame . Protein_FAM135_(100%),Putative_serine_esterase_(DUF676)(100%)| . . ENSG00000082269.16 . ENST00000418814.6 . downstream upstream . ^(GCTGGAGGGGCAGTTGAAGCTCCTGAAGGGCGGGGCACGGAGCTTGAAGGGGCGGGGCCTAGCCTCAGAGAGGGGAGGGAAGAGGCGGGAGGAGGAGGTGAGAGAGGCCGGGGGCGGGGCCGTGCGGCCGGGGACCTGTTGATCGCAGGTATAGCCGGCTGGCCCGGGCTCCCTCGGGACTGGGGCGACTGCGCATGCTCGCTGGCCGCGCTGGGCCAGTAGCCGAGCCGCGGTGACGAACCGGCTCCGCGGTTGCGGTGTTTGCGGTTGCTGTGATGGCGATGTGAGGGGGCCCGGGGCGGGATGGTGCTGACCCGGGTCGGGCCGTCTTCTTGCAGCTGGACAACGAGCTCCTCCGTTCGACAGGCGGGGGAAGAGGCCGAGCCGGGCGAGAG___GGTTGAAGATCAACTGGATTATGTATTTGGTTCTGGAATCTCAAAGCAGTCCACAAACAAATTCTTCCTTATGTTGTCTGTGTCAG___GGGGAACGGTGTATTTTTAACAACGGGAATCAGTAACTGGAAGTACAAGATTGGTTATTTAATAATGTTAAAAATGAGGCTTTGAAAAGCAGAG___GTGCTGTTATCAGAATAGTCTTCTGGGTATAAATTAAAAATGACTGAAGTTCAAGCAATGGTAGAATTCTCTGTGGAGCTAAACAAGTTCTACAATGTGGATTTGTTTCAGAGAGG___TTTTTACCAGATTCGTGCTTCTATGAAAATTCCATCAAGAATTCCCCACAGAGTAGAAGCTAGTTTGTTGCATGCAACAG___GTATGACTTTAGCCTTTCCAGCCTCAGTTCATGATTCTCTAATTTGCAGTAAAACATTTCAAATTTTGTACAAAAATGAAGAGGTTGTTTTAAATGATGTTATGATCTTCAAAGTAAAAATGCTATTGGATGAAAGAAAG___ATTGAAGAAACCCTTGAGGAAATGAATTTTCTATTATCCTTGGATCTACACTTCACAGATGGAGATTATTC___GGCAGATGATCTGAATGCCTTGCAACTAATAAGTAGCCGAACATTGAAGCTGCACTTTAGCCCCCATAGAGGCCTTCATCATCATGTTAATGTTATGTTTGATTACTTCCACCTTTCTGTTGTGTCTGTTACAGTTCATGCATCATTGGTTGCACTACACCAGCCACTAATAAG___CTTTCCTCGCCCTGTGAAGACAACTTGGTTAAATAGAAATGCACCAGCACAAAACAAAGATTCCGTGATTCCTACTCTTGAAAGTGTGGTCTTTGGTATTAACTACACAAAACAGTTATCACCAGAT___GGTTGTAGCTTCATCATTGCAGACTCCTTCCTACATCATGCGTATCGTTTTCATTATACACTTTGTGCCACTTTGCTGCTAGCCTTCAAGGGATTGCACAGCTACTTCATTACAGTAACAGAAGAGATTCCTTCTTGTCAGAAACTAGAACTGG___AGGAAATGGATGTAGAAGCTCGACTTACTGAACTATGTGAAGAAGTTAAG___AAAATAGAGAATCCTGATGAACTGGCAGAACTTATAAATATGAATCTTGCGCAACTTTGCTCACTTTTGATGGCTTTATGGGGACAGTTTCTGGAAGTTATAACGCTACACGAAGAACTAAGAATATTATTAGCACAAGAGCACCATACTTTGAGG___GTACGCAGATTTTCTGAGGCATTCTTTTGTTTTGAGCATCCAAGAGAAGCTGCCATTGCATACCAGGAACTTCA___TGCTCAGAGTCATCTACAGATGTGCACCGCTATCAAAAATACTTCCTTCTGCAGTTCTCTTCCACCCTTACCTATTGAATGTAGTGAATTAGATGGAGATCTCAATTCATTACCTATAATCTTTGAAGATAGGTATTTAGATTCAGTTACTGAAG___ACTTAGATGCACCCTGGATGGGAATTCAGAATCTTCAGAGATCAGAGTCCAGTAAAATGGATAAATATGAGACTGAAGAAAGCTCTGTAGCAGGACTTTCTAGCCCAGAGTTGAAAGTCAGACCTGCTGGTGCCTCCAGTATTTGGTATACAGAAGGTGAAAAGCAGCTAACAAAATCTCTAAAAGGAAAGAATGAAGAATCAAATAAATCCAAAGTTAAGGTTACTAAGCTTATGAAAACAATGAAATCTGAAAACACAAAAAAATTAATAAAACAGAACTCTAAGGATTCTGTGGTTTTGGTAGGCTACAAATGTTTGAAAAGTACAGCATCAAATGATCTCATTAAATGCTTTGAAGGCAATCCTTCACATAGTCAGAAGGAAGGTCTGGATCCCACAATATGTGGATATAATTTTGACCCAAAGACCTACATGAGACAGACAAGTCAAAAGGAAGCTAGCTGTTTGCCAACTAATACAGAGAGAACTGAACAAAAGTCTCCAGATATTGAAAATGTTCAACCAGACCAGTTTGATCCTTTGAACTCTGGCAACCTAAATCTTTGTGCAAATTTGTCCATTTCAGGTAAACTTGATATCTCCCAGGACGATAGTGAAATTACACAAATGGAACACAATCTGGCATCCAGAAGGTCATCAGACGATTGCCATGATCATCAAACAACCCCATCTTTGGGAGTTAGAACAATTGAAATAAAGCCCAGTAATAAAGATCCTTTCAGTGGAGAGAATATAACTGTCAAACTAGGACCTTGGACAGAGCTTCGACAAGAGGAAATACTTGTGGATAATTTACTACCCAACTTTGAGTCCTTAGAATCTAATGGTAAATCTAAATCTATAGAAATAACATTTGAAAAGGAAGCTTTGCAAGAAGCAAAGTGTCTTTCTATTGGAGAATCATTAACTAAATTACGAAGTAATCTACCTGCCCCTTCTACAAAAGAATATCATGTTGTAGTAAGTGGAGATACAATTAAGTTACCAGATATTAGTGCCACATATGCCTCATCTAGATTTTCAGATTCAGGTGTTGAAAGTGAACCGAGTTCTTTTGCGACACATCCAAACACTGATTTAGTCTTTGAAACTGTGCAAGGGCAAGGTCCTTGCAATAGTGAAAGATTATTTCCTCAGCTTTTGATGAAACCTGATTATAATGTAAAATTTTCATTAGGAAATCATTGTACTGAGAGTACAAGTGCTATAAGTGAAATACAGTCATCTTTGACATCCATAAACTCTCTACCCTCCGATGATGAACTGTCACCTGATGAAAATTCTAAGAAATCTGTTGTACCTGAATGCCATCTAAATGATAGCAAAACTGTATTAAATCTAGGAACGACTGATTTGCCAAAATGTGATGATACTAAAAAGTCAAGTATCACTTTGCAACAGCAGAGTGTTGTATTTTCAGGGAACTTGGACAATGAAACTGTAGCAATACATTCCTTAAATTCAAGCATTAAAGACCCTTTACAATTTGTTTTTTCAGATGAAGAGACTTCCAGTGATGTGAAAAGTAGTTGCAGCTCCAAACCTAACTTGGATACTATGTGTAAAGGCTTCCAGAGTCCTGATAAATCTAATAACTCTACAGGGACAGCAATTACATTAAATTCAAAACTGATTTGTTTAGGCACTCCTTGTGTCATTTCAGGTTCCATTTCTAGTAATACAGATGTTAGTGAAGATAGAACTATGAAAAAAAATAGTGATGTATTAAATCTCACACAGATGTATTCAGAAATCCCTACAGTTGAAAGTGAAACTCATCTGGGTACAAGTGATCCTTTTTCAGCCAGTACTGATATAGTAAAGCAAGGGCTTGTGGAAAATTATTTTGGTTCTCAAAGCAGTACGGATATTTCTGACACATGTGCTGTTAGCTACAGCAATGCACTTAGCCCTCAGAAGGAAACTTCTGAAAAAGAAATTAGTAATCTTCAGCAGGAACAGGATAAAGAGGATGAGGAGGAAGAGCAGGATCAACAAATGGTTCAAAATGGGTACTATGAAGAAACAGATTATTCAGCTTTGGATGGAACAATAAATGCTCACTATACAAGCAGAGATGAACTAATGGAAGAAAGACTTACAAAATCTGAAAAAATAAACAGTGACTATCTGAGAGATGGTATAAACATGCCTACTGTCTGTACTTCTGGTTGTTTGTCCTTCCCGTCTGCACCACGAGAGTCTCCTTGTAATGTTAAATATTCTTCCAAAAGTAAATTTGATGCCATTACAAAGCAGCCAAGCAGTACTTCTTACAACTTCACTTCTTCGATTTCCTGGTATGAAAGTTCACCAAAACCTCAAATACAAGC___CTTCCTTCAGGCAAAAGAAGAACTGAAGCTACTAAAACTTCCTGGGTTCATGTACAGTGAAGTTCCTCTGCTGGCATCCTCAGTACCTTATTTTAGTGTAGAAGAAGAGGATGGTTCTGAAGATGGAGTACATCTGATTGTCTGTGTGCACGGTTTAGATG___GAAACAGTGCAGATCTCCGATTAGTAAAAACTTACATTGAACTTGGATTGCCTGGGGGAAGAATTGATTTTCTTATGTCTGAGAGAAATCAG___AATGATACTTTTGCTGATTTTGATAGCATGACTGATCGTCTTTTGGATGAGATAATACAGTATATTCAGATATATAGTCTAACAGTCTCAAAAATAAG___CTTTATTGGACATTCGTTGGGCAATTTAATAATTCGTTCAGTGCTTACAAGGCCAAGGTTTAAATATTACCTCAACAAACTTCATACCTTTCTGTCTCTTTCTGGA)CCTCACCTTGGTACACTCTACAACAGCAGTGCTCTTGTTAATACAG|GTTTCAAATGTGTTGTGTTTCTGAGGGTTGCTCCTGGACTATTCCCATATTCAGTAGATGCCATTGCCTCCATATTGTGATTGCTGTTAAGCTAAAGACAAAACAGTCAAGGAAGGGAC MTEVQAMVEFSVELNKFYNVDLFQRGFYQIRASMKIPSRIPHRVEASLLHATGMTLAFPASVHDSLICSKTFQILYKNEEVVLNDVMIFKVKMLLDERKIEETLEEMNFLLSLDLHFTDGDYSADDLNALQLISSRTLKLHFSPHRGLHHHVNVMFDYFHLSVVSVTVHASLVALHQPLISFPRPVKTTWLNRNAPAQNKDSVIPTLESVVFGINYTKQLSPDGCSFIIADSFLHHAYRFHYTLCATLLLAFKGLHSYFITVTEEIPSCQKLELEEMDVEARLTELCEEVKKIENPDELAELINMNLAQLCSLLMALWGQFLEVITLHEELRILLAQEHHTLRVRRFSEAFFCFEHPREAAIAYQELHAQSHLQMCTAIKNTSFCSSLPPLPIECSELDGDLNSLPIIFEDRYLDSVTEDLDAPWMGIQNLQRSESSKMDKYETEESSVAGLSSPELKVRPAGASSIWYTEGEKQLTKSLKGKNEESNKSKVKVTKLMKTMKSENTKKLIKQNSKDSVVLVGYKCLKSTASNDLIKCFEGNPSHSQKEGLDPTICGYNFDPKTYMRQTSQKEASCLPTNTERTEQKSPDIENVQPDQFDPLNSGNLNLCANLSISGKLDISQDDSEITQMEHNLASRRSSDDCHDHQTTPSLGVRTIEIKPSNKDPFSGENITVKLGPWTELRQEEILVDNLLPNFESLESNGKSKSIEITFEKEALQEAKCLSIGESLTKLRSNLPAPSTKEYHVVVSGDTIKLPDISATYASSRFSDSGVESEPSSFATHPNTDLVFETVQGQGPCNSERLFPQLLMKPDYNVKFSLGNHCTESTSAISEIQSSLTSINSLPSDDELSPDENSKKSVVPECHLNDSKTVLNLGTTDLPKCDDTKKSSITLQQQSVVFSGNLDNETVAIHSLNSSIKDPLQFVFSDEETSSDVKSSCSSKPNLDTMCKGFQSPDKSNNSTGTAITLNSKLICLGTPCVISGSISSNTDVSEDRTMKKNSDVLNLTQMYSEIPTVESETHLGTSDPFSASTDIVKQGLVENYFGSQSSTDISDTCAVSYSNALSPQKETSEKEISNLQQEQDKEDEEEEQDQQMVQNGYYEETDYSALDGTINAHYTSRDELMEERLTKSEKINSDYLRDGINMPTVCTSGCLSFPSAPRESPCNVKYSSKSKFDAITKQPSSTSYNFTSSISWYESSPKPQIQAFLQAKEELKLLKLPGFMYSEVPLLASSVPYFSVEEEDGSEDGVHLIVCVHGLDGNSADLRLVKTYIELGLPGGRIDFLMSERNQNDTFADFDSMTDRLLDEIIQYIQIYSLTVSKISFIGHSLGNLIIRSVLTRPRFKYYLNKLHTFLSLSGPHLGTLYNSSALVNT|gfkcvvflrvapglfpysvdaiasil* 11CO021 ENSG00000183840.7 ENSG00000068912.14 +/+ +/+ chr2:132417898 chr2:53795933 CDS/splice-site CDS/splice-site duplication 3 0 0 8 121 medium out-of-frame . 7_transmembrane_receptor_(rhodopsin_family)(100%)|Glucosidase_II_beta_subunit-like_protein(100%) . . ENSG00000183840.7 ENSG00000068912.14 ENST00000329321.4 ENST00000185150.9 downstream upstream . ^(ACATACACTCCCAAACCTCAACACCCAGGCGCCTCCTGGGCCTCTCCTAGGTTGGGCTGCTCCAGCAAGTTTCCATGAAAGCACCTGAAATACTAAGTTACCTTCGCGAGGAGAACTCGAGTGAGATAAAATCGTGCGCCCACGCAGGTGAGTTTGCAGCCAAGAATTTTGGACGCTGCTGGGAGGAGAAAGGGAAGTTGAGAAAGTCTTTGGACCTGGTAGCCTGGTGCTCTTTCTCATGGCTTCACCCAGCCTCCCGGGCAGTGACTGCTCCCAAATCATTGATCACAGTCATGTCCCCGAGTTTGAGGTGGCCACCTGGATCAAAATCACCCTTATTCTGGTGTACCTGATCATCTTCGTGATGGGCCTTCTGGGGAACAGCGCCACCATTCGGGTCACCCAGGTGCTGCAGAAGAAAGGATACTTGCAGAAGGAGGTGACAGACCACATGGTGAGTTTGGCTTGCTCGGACATCTTGGTGTTCCTCATCGGCATGCCCATGGAGTTCTACAGCATCATCTGGAATCCCCTGACCACGTCCAGCTACACCCTGTCCTGCAAGCTGCACACTTTCCTCTTCGAGGCCTGCAGCTACGCTACGCTGCTGCACGTGCTGACACTCAGCTTTGAGCGCTACATCGCCATCTGTCACCCCTTCAGGTACAAGGCTGTGTCGGGACCTTGCCAGGTGAAGCTGCTGATTGGCTTCGTCTGGGTCACCTCCGCCCTGGTGGCACTGCCCTTGCTGTTTGCCATGGGTACTGAGTACCCCCTGGTGAACGTGCCCAGCCACCGGGGTCTCACTTGCAACCGCTCCAGCACCCGCCACCACGAGCAGCCCGAGACCTCCAATATGTCCATCTGTACCAA)CCTCTCCAGCCGCTGGACCGTGTTCCAGTCCAGCATCTTCGGCGCCTTCGTGGTCTACCTCGTGGTCCTGCTCTCCGTAGCCTTCATGTGCTGGAACATGATGCAGGTGCTCATGAAAAGCCAGAAGGGCTCGCTGGCCGGGGGCACGCGGCCTCCGCAGCTGAGGAAGTCCGAGAGCGAAGAGAGCAGGACCGCCAGGAGGCAGACCATCATCTTCCTGA|GAAGAAGAAAAGGATTATAAAGGCCCTAATCCAAGAGAGCcTTTGGAGCCACTATTTAAACAAAGCAGTTGTTCC(TACAGA___ATTGAGTCTTATTGGACTTACGAAGTATGTCATGGAAAACACATTCGGCAGTACCATGAAGAGAAAGAAACTGGTCAG___AAAATAAATATTCACGAGTACTACCTTGGGAATATGTTGGCCAAGAACCTTCTATTTGAAAAAG___AACGAGAAGCAGAAGAAAAGGAAAAATCAAATGAG___ATTCCCACTAAAAATATCGAAGGTCAGATGACACCATACTATCCTGTGGGAATGGGAAATGGTACACCTTGTAGTTTGAAACAGAACCGGCCCAGATCAAGTACTGTGATGTACATATGTCATCCTGAATCTAAGCATGAAATTCTTTCAGTAGCTGAAGTTACAACTTGTGAATATGAAGTTGTCATTTTGACACCACTCTTGTGCAGTCATCCTAAATATAG___GTTCAGAGCATCTCCTGTGAATGACATATTTTGTCAATCACTGCCAGGATCTCCATTTAAGCCCCTCACCCTGAGGCAGCTGGAGCAGCAGGAAGAAATACTAAGGGTGCCTTTTAGGAGAAATAAAGAG___GAAGATTTGCAATCAACTAAAGAAGAGAGATTTCCAGCGATCCACAAGTCGATTGCTATTGGCTCTCAGCCAGTGCTCACTGTTGGGACAACCCACATATCCAAATTGACAGATGACCAACTCATAAAAGAGTTTCTTAGTGGTTCTTACTGCTTTCGTGGG___GGTGTCGGTTGGTGGAAATATGAATTCTGCTATGGCAAACATGTACATCAATACCATGAG___GACAAGGATAGTGGGAAAACCTCTGTGGTTGTCGGGACATGGAACCAAGAAGAGCATATTGAATGGGCTAAGAAGAATACTGCTAGAGCTTATCATCTTCAAGACGATGGTACCCAGACAGTCAG___GATGGTGTCACATTTTTATGGAAATGGAGATATTTGTGATATAACTGACAAACCAAGACAGGTGACTGTAAAACTAAA___GTGCAAAGAATCAGATTCACCTCATGCTGTTACTGTATATATGCTAGAGCCTCACTCCTGTCAATATATTCTTGGG___GTTGAATCTCCAGTGATCTGTAAAATCTTAGATACAGCAGATGAAAATGGACTTCTTTCTCTCCCCAACTAAAGGATATTAAAGTTAGGGGAAAGAAAAGATCATTGAAAGTCATGATAATTTCTGTCCCACTGTGTCTCATTATAGAGTTCTCAGCCATTGGACCTCTTCTAAAGGATGGTATAAAATGACTCTCAACCACTTTGTGAATACATATGTGTATATAAGAGGTTATTGATAAACTTCTGAGGCAGACATTTGTCTCGCTTTTTTTCATTTTTGTTGTGTCTTATAAACTGACTGTTTTTCTTTGCTTGGATACTGTGATTCCAAAATAAATCTCATCCAAGCAAGTTAGAGTCCAGCCTAATCAAATGTCATAATTGTTGTACCTATTGAAAGTTTTTAAATAATAGATTTATTATGTAAATTATAGTATATGTAAGTAGCTAATGAAGTAAAGATCATGAAGAAAGAAATTGATAGGTGTAAATGAGAGACCATGTAAAATATGTAAATTCTAGTACCTGAAATCCTTTCAACAGATTTTTATATAGCAACTGCTCTCTGCAAGTAGTTAAACTAGAAACTGGGCACATGGTAGAGGCTCACATGGGAGTTGTCCTCACCCTTGTTAATCTCAAGAAACTCTTATTTATAATAGGTTGCTTCTCTCTCAGAACTTTTATCTATTACTTTTTTCTTCTTATGAGTATGTTTACTCTCAGAGTATCTATCTGATGTAGACAGTTGGTGATGCTTCTGAGACTCAGAATGGTTTACTCTAACAAAACACTGTGCTGTCTATCCCTTGTACTTGCCTACTGTAATATGGATTTCACTTCTGAACAGTTTACAGCACAATATTTATTTTAAAGTGAATAAAATGTCCACAAGCA)$ MASPSLPGSDCSQIIDHSHVPEFEVATWIKITLILVYLIIFVMGLLGNSATIRVTQVLQKKGYLQKEVTDHMVSLACSDILVFLIGMPMEFYSIIWNPLTTSSYTLSCKLHTFLFEACSYATLLHVLTLSFERYIAICHPFRYKAVSGPCQVKLLIGFVWVTSALVALPLLFAMGTEYPLVNVPSHRGLTCNRSSTRHHEQPETSNMSICTNLSSRWTVFQSSIFGAFVVYLVVLLSVAFMCWNMMQVLMKSQKGSLAGGTRPPQLRKSESEESRTARRQTIIFL|rrrkgl* 11CO021 ENSG00000183840.7 ENSG00000068912.14 +/+ +/+ chr2:132416951 chr2:53795933 5'UTR CDS/splice-site duplication 1 1 0 21 121 medium . . |Glucosidase_II_beta_subunit-like_protein(100%) . . ENSG00000183840.7 ENSG00000068912.14 ENST00000329321.4 ENST00000185150.9 downstream upstream . ^(ACATACACTCCCAAACCTCAACACCCAGGCGCCT)CCTGGGCCTCTCCTAGGTTGGGCTGCTCCAGCAAGTTTCCATGAAAGCACCTGAAATACTAAGTTACCTTCGCGAGGAGAACTCGAGTGAGATAAAATCGTGCGCCCACGCAG|GAAGAAGAAAAGGATTATAAAGGCCCTAATCCAAGAGAGCTTTTGGAGCCACTATTTAAACAAAGCAGTTGTTCCTACAGA___ATTGAGTCTTATTGGACTTACGAAGTATGTCATGGAAAACACATTCGGCAGTACCATGAAGAGAAAGAAACTGGTCAG___AAAATAAATATTCACaAG(TACTACCTTGGGAATATGTTGGCCAAGAACCTTCTATTTGAAAAAG___AACGAGAAGCAGAAGAAAAGGAAAAATCAAATGAG___ATTCCCACTAAAAATATCGAAGGTCAGATGACACCATACTATCCTGTGGGAATGGGAAATGGTACACCTTGTAGTTTGAAACAGAACCGGCCCAGATCAAGTACTGTGATGTACATATGTCATCCTGAATCTAAGCATGAAATTCTTTCAGTAGCTGAAGTTACAACTTGTGAATATGAAGTTGTCATTTTGACACCACTCTTGTGCAGTCATCCTAAATATAG___GTTCAGAGCATCTCCTGTGAATGACATATTTTGTCAATCACTGCCAGGATCTCCATTTAAGCCCCTCACCCTGAGGCAGCTGGAGCAGCAGGAAGAAATACTAAGGGTGCCTTTTAGGAGAAATAAAGAG___GAAGATTTGCAATCAACTAAAGAAGAGAGATTTCCAGCGATCCACAAGTCGATTGCTATTGGCTCTCAGCCAGTGCTCACTGTTGGGACAACCCACATATCCAAATTGACAGATGACCAACTCATAAAAGAGTTTCTTAGTGGTTCTTACTGCTTTCGTGGG___GGTGTCGGTTGGTGGAAATATGAATTCTGCTATGGCAAACATGTACATCAATACCATGAG___GACAAGGATAGTGGGAAAACCTCTGTGGTTGTCGGGACATGGAACCAAGAAGAGCATATTGAATGGGCTAAGAAGAATACTGCTAGAGCTTATCATCTTCAAGACGATGGTACCCAGACAGTCAG___GATGGTGTCACATTTTTATGGAAATGGAGATATTTGTGATATAACTGACAAACCAAGACAGGTGACTGTAAAACTAAA___GTGCAAAGAATCAGATTCACCTCATGCTGTTACTGTATATATGCTAGAGCCTCACTCCTGTCAATATATTCTTGGG___GTTGAATCTCCAGTGATCTGTAAAATCTTAGATACAGCAGATGAAAATGGACTTCTTTCTCTCCCCAACTAAAGGATATTAAAGTTAGGGGAAAGAAAAGATCATTGAAAGTCATGATAATTTCTGTCCCACTGTGTCTCATTATAGAGTTCTCAGCCATTGGACCTCTTCTAAAGGATGGTATAAAATGACTCTCAACCACTTTGTGAATACATATGTGTATATAAGAGGTTATTGATAAACTTCTGAGGCAGACATTTGTCTCGCTTTTTTTCATTTTTGTTGTGTCTTATAAACTGACTGTTTTTCTTTGCTTGGATACTGTGATTCCAAAATAAATCTCATCCAAGCAAGTTAGAGTCCAGCCTAATCAAATGTCATAATTGTTGTACCTATTGAAAGTTTTTAAATAATAGATTTATTATGTAAATTATAGTATATGTAAGTAGCTAATGAAGTAAAGATCATGAAGAAAGAAATTGATAGGTGTAAATGAGAGACCATGTAAAATATGTAAATTCTAGTACCTGAAATCCTTTCAACAGATTTTTATATAGCAACTGCTCTCTGCAAGTAGTTAAACTAGAAACTGGGCACATGGTAGAGGCTCACATGGGAGTTGTCCTCACCCTTGTTAATCTCAAGAAACTCTTATTTATAATAGGTTGCTTCTCTCTCAGAACTTTTATCTATTACTTTTTTCTTCTTATGAGTATGTTTACTCTCAGAGTATCTATCTGATGTAGACAGTTGGTGATGCTTCTGAGACTCAGAATGGTTTACTCTAACAAAACACTGTGCTGTCTATCCCTTGTACTTGCCTACTGTAATATGGATTTCACTTCTGAACAGTTTACAGCACAATATTTATTTTAAAGTGAATAAAATGTCCACAAGCA)$ . 11CO021 ENSG00000080947.15 ENSG00000058453.17 -/- +/+ chr1:16499203 chr1:16929846 exon/splice-site CDS/splice-site inversion 0 2 0 1 8 medium . . |Ciliary_rootlet_component__centrosome_cohesion(100%) . . ENSG00000080947.15 ENSG00000058453.17 ENST00000590118.5 ENST00000375541.10 upstream upstream . ^(ACCCGGTGCGG)CCCCTCGGCCTCGGCGGCAGCGGCTGCGGAGAAGGCGAGCGAAG|CTGGAGCAGGCTCTGCGGCTGGAGCCTGGGGAGCTGGAGACGCAGGAGCCCAGGGGGCTGGTACGGCAGAGCGTGGAGTTGCGGAGGCAGCTGCAGGAGGAGCAGGCCTCCTACCGGCGCAAG(CTGCAGGCCTACCAGGAGGGCCAGCAGCGGCAGGCCCAGCTTGTGCAGCGGCTGCAGGGCAAG___ATTCTCCAGTACAAGAAGAGGTGCTCGGAGCTGGAGCAGCAGCTGCTGGAGAGATCCGGAGAGCTGGAGCAGCAGCGGCTGAGG___GACACAGAGCACAGCCAAGACCTGGAAAGCGCCCTCATCCGGCTGGAGGAGGAGCAGCAGAG___GAGTGCCAGCCTGGCCCAGGTGAATGCCATGCTCCGAGAACAGCTGGACCAGGCAGGCTCGGCCAACCAGGCTCTGAGTGAGGACATACGAAAGGTGACCAATGACTGGACACGCTGCCGCAAGGAGCTGGAGCACCGGGAGGCGGCGTGGAGGCGCGAGGAGGAG___TCCTTCAACGCCTACTTCAGCAACGAGCACAGTCGCCTGCTCCTCCTCTGGAGGCAGGTGGTGGGGTTCCGGCGGCTGGTCAGCGAGGTGAAGATGTTCACTGAGAG___GGACCTGCTGCAGCTGGGAGGGGAGCTGGCCCGGACATCACGAGCTGTCCAGGAGGCGGGCCTGGGACTGAGCACGGGCCTACGGCTGGCAGAGAGCCGGGCCGAGGCAGCCCTGGAGAAACAGGCCCTGCTGCAGGCCCAGCTGGAGGAGCAGCTGCGGGACAAGGTGCTCCGCGAGAAGGACCTGGCGCAGCAGCAGATGCAAAGCGACCTGGACAAGGCTGACCTCAGTGCCAG___AGTGACAGAGCTGGGCCTGGCAGTGAAGCGTCTTGAGAAGCAGAATCTGGAGAAGGATCAGGTCAACAAGGACCTCACTGAGAAGCTTGAGGCCCTG___GAATCCCTGCGGCTACAGGAGCAGGCGGCCCTGGAGACAGAGGATGGAGAGGGGCTACAGCAGACCCTAAGGGACCTGGCACAG___GCCGTCTTGTCAGACTCTGAGAGCGGCGTCCAGCTGAGCGGCTCTGAGCGCACCGCGGATGCTTCCAACGGCAGCCTGCGGGGGCTCTCGGGCCAGCGGACCCCGTCCCCACCGCGGCGCTCCTCGCCCGGCCGAGGCCGTTCACCCCGCCGAGGCCCCTCCCCGGCCTGCTCAGACTCCTCCACGCTCGCCCTGATCCACTCCGCCCTGCACAAGCGCCAGCTGCAGGTCCAG___GACATGCGTGGGCGCTATGAGGCAAGCCAGGACCTACTGGGCACCCTGCGGAAGCAGCTTAGCGACAGCGAGAGCGAGCGGCGGGCCCTAGAGGAACAGCTGCAGCGCCTGCGGGACAAGACCGACGGCGCCATGCAGGCCCACGAGGACGCCCAGCGCGAGGTGCAGCGGCTGCGGAGCGCCAACGAGCTCCTGAGCAG___GGAGAAGAGCAACCTGGCCCACAGCCTGCAGGTGGCCCAGCAGCAGGCCGAGGAGCTGCGGCAGGAGCGGGAGAAGCTGCAGGCTGCCCAGGAGGAGCTGCGGCGCCAGCGGGACCGGCTGGAGGAAGAGCAGGAGGACGCAGTGCAGGATGGCGCGCGGGTGCGCCGGGAGCTTGAGCGCAG___CCATAGACAACTAGAGCAGCTGGAAGGGAAGCGCTCAGTCCTGGCCAAGGAGCTGGTGGAGGTGAGGGAGGCGCTGAGCCGCGCCACACTGCAACGGGACATGCTGCAGGCCGAGAAGGCCGAGGTGGCCGAGGCGCTGACCAAG___GCTGAGGCTGGCCGCGTGGAGCTCGAGCTCTCCATGACCAAGCTGAGGGCAGAGGAGGCCTCCCTGCAGGACTCCCTGTCCAAGCTGAGCGCCCTCAACGAGAGCCTTGCTCAGGACAAGTTGGATCTGAACCGCCTTGTCGCCCAG___CTGGAGGAAGAAAAGTCCGCCCTGCAGGGCCGGCAACGGCAGGCAGAGCAGGAGGCCACAGTGGCGCGGGAAGAGCAGGAACGGCTAGAGGAGCTGCGGTTGGAGCAGGAGGTGGCGCGGCAGGGCCTGGAGGGCTCCCTACGAGTGGCGGAGCAGGCCCAGGAGGCATTGGAGCAGCAGCTCCCCACGCTGCGCCATGAGCGCAGCCAGCTGCAGGAGCAGCTAGCGCAG___CTCTCCCGGCAGCTGAGCGGGCGGGAGCAGGAGCTGGAGCAGGCCCGGCGGGAGGCCCAGCGGCAAGTGGAGGCGCTGGAGCGAGCGGCCCGTGAGAAGGAGGCGCTAGCCAAGGAGCACGCTGGCCTGGCTGTGCAGCTGGTGGCTGCGGAGCGTGAAGGCAGGACCCTGTCAGAGGAGGCCACACGCCTGCG___CTTGGAGAAGGAAGCCCTGGAGGGCAGCCTGTTTGAGGTGCAACGGCAGCTGGCCCAGCTTGAGGCCCGCCGGGAGCAGCTGGAAGCCGAGGGGCAGGCCCTGCTGCTGGCCAAGGAGACCCTGACTG___GGGAGTTGGCGGGCCTGCGGCAGCAAATAATAGCTACACAGGAGAAAGCCAGTCTAGACAAGGAGCTGATGGCCCAGAAGCTGGTGCAGGCTGAGCGGGAGGCCCAGGCCTCTCTGCGGGAGCAGCGGGCAGCTCACGAGGAGGACTTACAGCGACTCCAGCGTGAAAAG___GAGGCAGCATGGCGGGAGCTGGAGGCCGAGCGGGCCCAGCTGCAGAGTCAGCTGCAGCGTGAGCAGGAGGAGCTGCTGGCCCGGCTGGAGGCTGAGAAGGAAGAGCTGAGTGAGGAGATTGCTGCCCTGCAGCAGGAGCGCGACGAGGGCCTCCTCCTAGCAGAGAGTGAGAAGCAGCAG___GCCTTGTCTCTGAAGGAGTCTGAGAAGACGGCGCTGTCAGAGAAGTTGATGGGTACACGGCACAGCCTGGCCACCATCTCCCTGGAGATGGAGCGGCAGAAACGAGATGCCCAGAGCCGGCAGGAGCAGGACCGG___AGCACCGTGAACGCTCTGACGTCTGAGCTGCGGGACCTACGGGCCCAGCGGGAGGAGGCTGCTGCGGCCCACGCCCAGGAGGTGAGGAGGCTGCAAGAGCAGGCCCGAGACCTGGGCAAGCAGCGGGACTCCTGTCTTCGCGAG___GCAGAAGAGCTTCGGACCCAGCTGCGTCTGCTGGAGGATGCCCGTGACGGGCTGCGGCGGGAGCTGCTGGAGGCCCAGCGCAAGCTGCGTGAGAGCCAGGAGGGCCGGGAGGTGCAGCGCCAGGAGGCAGGCGAGCTGCGACGCAGCCTGGGCGAGGGTGCCAAGGAGCGCGAGGCCCTGCGGCGTTCCAATGAGGAGCTTCGGTCTGCTGTGAAGAAGGCAGAGAGCGAGCGCATCAG___CCTGAAGCTTGCCAATGAGGACAAGGAGCAGAAGCTGGCACTCCTAGAGGAGGCACGGACAGCTGTGGGCAAGGAGGCCGGGGAGCTGCGAACTGGGCTGCAGGAGGTGGAGCGCTCACGGCTGGAGGCTCGGCGGGAGCTGCAGGAGCTCCGGCGTCAG___ATGAAGATGCTGGACAGTGAGAACACCAGACTGGGCCGGGAGCTGGCGGAGCTGCAGGGCCGCCTGGCGCTGGGCGAGCGGGCAGAGAAGGAGAGCAGGCGGGAGACCCTGGGCCTCCGGCAGAGGCTGCTGAAGGGCGAGGCCAGCCTGGAGGTGATGCGGCAGGAG___CTCCAGGTAGCCCAGCGGAAGCTGCAGGAACAAGAAGGCGAGTTCCGGACCCGCGAGCGACGCCTGCTGGGCTCCCTGGAGGAGGCGCGTGGCACTGAAAAGCAGCAGCTGGACCACGCCCGCGGCCTGGAGCTGAAGCTGGAGGCGGCGCGGGCCGAGGCTGCAGAGCTGGGCCTGCGGCTGAGCGCAGCCGAGGGCCGGGCACAAGGCCTGGAGGCCGAGCTGGCCCGCGTGGAGGTGCAGCGGCGCGCGGCGGAGGCCCAGCTGGGTGGCCTGCGCTCGGCTCTGCGCCGGGGCCTCGGCCTCGGTCGCGCGCCCAGCCCAGCCCCGCGGCCAGTGCCCGGTTCCCCTGCCCGGGACGCACCCGCAGAAG___GAAGCGGGGAAGGGCTCAACAGCCCCAGCACCTTAGAATGCAGCCCTGGGTCCCAGCCACCATCTCCAGGACCTGCCACCTCCCCAGCCTCTCCAGACCTGGACCCGGAGGCAGTGCGCGGGGCCCTCCGGGAATTCCTGCAAGAGCTGCGGAGTGCCCAGAGAGAACGG___GACGAACTTCGGACCCAGACCAGTGCCCTGAATCGCCAGCTGGCCGAGATGGAGGCTGAGAGGGACAGCGCAACCTCGAGGGCCAGGCAGCTGCAGAAGGCGGTGGCTGAGAGTGAGGAAG___CCCGGCGCAGTGTGGATGGGCGGCTGAGCGGGGTCCAGGCGGAGCTGGCGCTGCAGGAGGAGAGTGTGCGGCGCAGTGAGCGGGAGCGCCGGGCCACGCTGGACCAGGTGGCCACACTGGAGAGGAGCCTGCAGGCCACCGAGAGCGAGCTCCGGGCCAGCCAG___GAGAAGATCAGCAAGATGAAGGCCAATGAGACAAAGCTGGAGGGCGACAAGCGGCGCCTGAAGGAGGTTCTGGACGCCTCCGAGAGCCGCACTGTCAAGCTGGAGCTGCAGCGGCGCTCGCTTGAGGGGGAGCTGCAGCGCAGCCGCCTGGGCCTCAGTGACCGCGAGGCCCAAGCCCAGGCCCTCCAGGATCGGGTGGATTCCCTGCAGAGACAG___GTGGCCGACAGCGAGGTGAAGGCAGGGACCCTGCAGCTGACCGTGGAGCGGCTGAATGGGGCCCTGGCTAAGGTGGAGGAAAGCGAGGGGGCCCTGCGGGACAAGGTGCGGGGCCTGACAGAGGCCCTGGCCCAGAGCAGTGCCAGCCTCAACAGCACCCGGGACAAGAACCTGCATCTGCAGAAGGCTCTGACCGCCTGTGAACATGACCGCCAAGTACTCCAG___GAACGGCTGGATGCCGCCCGGCAGGCATTATCTGAGGCACGGAAGCAGAGCAGCTCCCTGGGCGAGCAGGTGCAGACGTTGCGAGGCGAGGTGGCTGACCTGGAACTGCAGCGGGTGGAGGCCGAGGGCCAGCTACAACAGCTACGGGAG___GTGCTGCGGCAGCGGCAGGAGGGTGAGGCTGCAGCCCTGAACACCGTCCAGAAGCTGCAAGACGAGCGGCGGCTGCTGCAGGAGCGCCTGGGAAGCCTGCAGCGCGCCCTGGCTCAGCTGGAAGCTGAGAAGCGGGAGGTGGAGCGCTCAGCCCTGCGGCTGGAGAAGGACCGTGTAGCCCTCAGGAGGACGCTGGACAAG___GTGGAGCGGGAGAAGCTTCGTAGCCATGAGGACACAGTGCGGCTGAGCGCAGAGAAGGGCCGCCTGGACCGCACCCTCACGGGGGCTGAGCTGGAGCTGGCAGAGGCGCAGAGGCAGATCCAGCAGCTGGAG___GCGCAGGTGGTGGTGCTGGAGCAGAGCCACAGCCCGGCCCAGCTGGAGGTGGATGCGCAGCAGCAGCAGCTGGAGCTGCAGCAGGAGGTGGAGCGGCTGCGCAGCGCCCAGGCGCAGACTGAGCGCACCCTGGAGGCTCGGGAGCGGGCCCACCGCCAGAGGGTGCGTGGGCTGGAGGAGCAG___GTGTCCACACTGAAGGGCCAGCTGCAGCAGGAGCTTCGAAGGAGCTCAGCACCCTTCTCCCCACCCTCCGGCCCCCCAGAGAAATGAGCTCCTGCTGGCATCTGGAGAACACCCCTGTGCCTGGGACAGGGGAGGACCCTTCTTTTGGACAGCCCCCCCACCCAGAGCCCGGTCCCTTGGGGGCCTCAAGCTGGGGTGGGATGAGGAGGCGCTCTGCTGGCAGTGCTGAGGACGGGTACTCCAGCTCCAGGCCTGGAGAGGCTTCCCAGCAACACCTGCAGTCCAGCCCCCCTCTTCTAGGATGAGCCACTGTAGATCATTAAAGTTCCTCCTTGAGAGGCTGAGCCGTAGCCAGGATTGGGGAGAGCCCTTGTCTCTGGTCAGCCCTGGAGCATGGGATCGTGGGAAAGAGGAGGGGGACCAGGCCCAGGGCAGGGGTCAGAGGCCCAGGCCCTGACTTCGGCTTCCCAGAGATCTCTCCGCCTTAGTTAAGAGCATGTGTCGGGAAATTCCTCAGAGTGCTCAGAGTCCCTGTATTTTTATACCTTTTTACAATGTTAACTGTTCAGAACTGTTTTTTGTAACAAAACCTTGTTTTTAAAAAA)$ . 11CO021 ENSG00000008710.20 ENSG00000196696.13 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site exon/splice-site duplication 0 2 0 27 54 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___CAGGCCTTTGTTGGACAGA)TGAAGAGTGACTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCGTG(AGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGAGTGGAACAAAAGAAAAAAATCAAAAAACAAAACAAA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 11CO022 ENSG00000126777.18 ENSG00000186615.11 +/+ -/+ chr14:55641760 chr14:55501229 CDS/splice-site intron duplication/5'-5' 20 31 2 435 62 high out-of-frame . Ribosome_receptor_lysine/proline_rich_region(100%)| . . ENSG00000126777.18 ENSG00000186615.11 ENST00000395314.8 . downstream upstream duplicates(2),mismatches(1) ^(GAAGCCGCCCGTTTCCTGCCGAGCGGCGCGACGGCACCTGAGCGACTGCGGCGGCGGCGGCGGCGGCGGCGGCGCCTCGGAGCGGGCGGCCCGGGCTGTAGTGCCGGCGCCGCCGCGTCTTCCCGGTCTCCTTTCCCGGCCGCACAGG___GTTTTATAGGATCACATTGACAAAAGTACCATGGAGTTTTATGAGTCAGCATATTTTATTGTTCTTATTCCTTCAATAGTTATTACAGTAATTTTCCTCTTCTTCTGGCTTTTCATGAAAGAAACATTATATGATGAAGTTCTTGCAAAACAGAAAAGAGAACAAAAGCTTATTCCTACCAAAACAGATAAAAAGAAAGCAGAAAAGAAAAAGAATAAAAAGAAAGAAATCCAGAATGGAAACCTCCATGAATCCGACTCTGAGAGTGTACCTCGAGACTTTAAATTATCAGATGCTTTGGCAGTAGAAGATGATCAAGTTGCACCTGTTCCATTGAATGTCGTTGAAACTTCAAGTAGTGTTAGGGAAAGAAAAAAGAAGGAAAAGAAACAAAAGCCTGTGCTTGAAGAGCAGGTCATCAAAGAAAGTGACGCATCAAAGATTCCTGGCAAAAAAGTAGAACCTGTCCCAGTTACTAAACAGCCCACCCCTCCCTCTGAAGCAGCTGCCTCGAAGAAGAAACCAGGGCAGAAGAAGTCTAAAAATGGAAGCG___ATGACCAGGATAAAAAGGTGGAAACTCTCATGGTACCATCAAAAAGGCAAGAAGCATTGCCCCTCCACCAAGAGACTAAACAAGAAAGTGGATCAGGGAAGAAGAAAGCTTCATCAAAGAAACAAAAGACAGAAAATG___TCTTCGTAGATGAACCCCTTATTCATGCAACTACTTATATTCCTTTGATGGATAATGCTGACTCAAGTCCTGTGGTAGATAAGAGAGAGGTTATTGATTTGCTTAAACCTGACCAAGTAGAAGGGATCCAGAAATCTGGGACTAAAAAACTGAAGACCGAAACTGACAAAG___AAAATGCTGAAGTGAAGTTTAAAGATTTTCTTCTGTCCTTGAAGACTATGATGTTTTCTGAAGATGAGGCTCTTTGTGTTGTAGACTTGCTAAAGGAGAAGTCTGGTGTAATACAAGATGCTTTAAAGAAG___TCAAGTAAGGGAGAATTGACTACGCTTATACATCAGCTTCAAGAAAAGGACAAGTTACTCGCTGCTGTGAAGGAAGATGCTGCTGCTACAAAGGATCGGTGTAAGCAGTTAACCCAG___GAAATGATGACAGAGAAAGAAAGAAGCAATGTGGTTATAACAAGGATGAAAGATCGAATTGGAACATTAGAAAAGGAACATAATGTATTTCAAAACAAAATACATGTCAGTTATCAAGAGACTCAACAGATGCAGATGAAG___TTTCAGCAAGTTCGTGAGCAGATGGAGGCAGAGATAGCTCACTTGAAGCAGGAAAATGGTATACTGAGAGATGCAGTCAGCAACACTACAAATCAACTGGAAAGCAA___GCAGTCTGCAGAACTAAATAAACTACGCCAGGATTATGCTAGGTTGGTGAATGAGCTGACTGAGAAAACAGGAAAGCTACAGCAAGAGGAAGTCCAAAAGAAGAATGCTGAGCAAGCAGCTACTCAGTTGAAG___GTTCAACTACAAGAAGCTGAGAGAAGGTGGGAAGAAGTTCAGAGCTACATCAGGAAGAGAACAGCGGAACATGAGGCAGCACAGCAAG___ATTTACAGAGTAAATTTGTGGCCAAAGAAAATGAAGTACAGAGTCTGCATAGTAAGCTTACAGATACCTTGGTATCAAAACAACAGTTGGAGCAAAGACTAATGCAGTTAATGGAATCAGAGCAGAAAAGGGTGAACAAAGAAGAGTCTCTACAAATGCAGGTTCAG___GATATTTTGGAGCAGAATGAGGCTTTGAAAGCTCAAATTCAGCAGTTCCATTCCCAGATAGCAGCCCAG___ACCTCCGCTTCAGTTCTAGCAGAAGAATTACATAAAGT___GATTGCAGAAAAGGATA)AGCAGATAAAACAGACTGAAGATTCTTTAGCAAGTGAACGTGATCGTTTAACAAGTAAAGAAGAGGAACTTAAG___GATATACAGAATATGAATTTCTTATTAAAAGCTGAAGTGCAGAAATTACAGGCCCTGGCAAATGAGCAG___GCTGCTGCTGCACATGAATTGGAGAAGATGCAACAAAG___TGTTTATGTTAAAGATGATAAAATAAGATTGCTGGAAGAGCAACTACAACATGAAATTTCAAACAAAATGGAAGAATTTAAG___ATTCTAAATGACCAAAACAAAGCATTAAAATCAGAAGTTCAGAAGCTACAGACTCTTGTTTCTGAACAG|GTTCATGGCTGAGACATCTGTGAAAAGAAAATAAATCTTGGGACCCCAAAATCACGAAGCCAAAGGGAAAAGCCAACCTGGGAACTGCTTAGGGCAAACCTGCCTTCCATTCTATTTTTTAAAAAGATAGCTACTAAGATTTAAAAGCTACATACCTCCCTCATAAAGAACTTCCTTGTGGGCAAAGGACAGACAGAACTCAGAGTCATTCCTTTACTGACATAAATGCCTATCTGACTGCCTCCTTTGGAAAGGCTAT MEFYESAYFIVLIPSIVITVIFLFFWLFMKETLYDEVLAKQKREQKLIPTKTDKKKAEKKKNKKKEIQNGNLHESDSESVPRDFKLSDALAVEDDQVAPVPLNVVETSSSVRERKKKEKKQKPVLEEQVIKESDASKIPGKKVEPVPVTKQPTPPSEAAASKKKPGQKKSKNGSDDQDKKVETLMVPSKRQEALPLHQETKQESGSGKKKASSKKQKTENVFVDEPLIHATTYIPLMDNADSSPVVDKREVIDLLKPDQVEGIQKSGTKKLKTETDKENAEVKFKDFLLSLKTMMFSEDEALCVVDLLKEKSGVIQDALKKSSKGELTTLIHQLQEKDKLLAAVKEDAAATKDRCKQLTQEMMTEKERSNVVITRMKDRIGTLEKEHNVFQNKIHVSYQETQQMQMKFQQVREQMEAEIAHLKQENGILRDAVSNTTNQLESKQSAELNKLRQDYARLVNELTEKTGKLQQEEVQKKNAEQAATQLKVQLQEAERRWEEVQSYIRKRTAEHEAAQQDLQSKFVAKENEVQSLHSKLTDTLVSKQQLEQRLMQLMESEQKRVNKEESLQMQVQDILEQNEALKAQIQQFHSQIAAQTSASVLAEELHKVIAEKDKQIKQTEDSLASERDRLTSKEEELKDIQNMNFLLKAEVQKLQALANEQAAAAHELEKMQQSVYVKDDKIRLLEEQLQHEISNKMEEFKILNDQNKALKSEVQKLQTLVSEQ|vhg* 11CO022 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 15 1 38 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(2),low_entropy(2),mismatches(1) AAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO022 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 11 0 36 28 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(3),mismatches(1) AGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTAC(CACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO022 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 11 5 2 22 25 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(2),low_entropy(3),mismatches(1) GCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___ATTCATGAAAAACTAC(ACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO022 ENSG00000059588.10 ENSG00000173726.11 -/- -/- chr1:234398382 chr1:235122372 CDS/splice-site CDS/splice-site duplication 0 17 1 145 633 high in-frame . |MAS20_protein_import_receptor(100%) . . ENSG00000059588.10 ENSG00000173726.11 ENST00000040877.2 ENST00000366607.5 upstream downstream . ^(CGGTCCTGTGCGCACGCATCGCACACGCCGGCGCCTTCCTTTGGGAGCCCGGGCCGGTGGCGCGGGCGCTCGGCAAATGGAGTGGGTGCTCGCGGAAGCGCTGCTCTCGCAGAGCCGGGACCCCCGGGCCCTGCTTGGGGCGCTGTGCCAAGGGGAGGCATCCGCGGAGCGCGTGGAGACGCTGCGCTTCCTTCTGCAGCGGCTCGAGGACGAGGAGGCGCGCGGCAGCGGGGGCGCAGGCGCGCTCCCGGAGGCGGCGCGCGAGGTGGCTGCAGGGTACCTCGTGCCACTGCTGCGGAGCCTGCGCGGACGCCCCGCGGGCGGCCCGGACCCCAGTCTGCAGCCTCGCCACCGCCGGCGCGTGCTGAGGGCGGCGGGCGCGGCCCTGCGCTCGTGCGTCCGCCTGGCCGGGCGTCCGCAGCTGGCGGCCGCGCTGGCTGAGGAGGCGCTGCGCGATCTGCTCGCCGGGTGGCGCGCGCCTGGCGCCGAGGCTGCCGTGGAAGTGCTAGCAGCCGTCGGGCCATGTTTGCGGCCCCGCGAGGACGGGCCGCTACTGGAGCGCGTGGCGGGGACCGCCGTCGCCCTGGCGCTGGGCGGGGGCGGGGACGGGGATGAGGCCGGGCCTGCCGAGGACGCGGCGGCGCTGGTGGCCGGGCGACTGCTGCCAGTGCTGGTCCAATGTGGCGGGGCGGCGCTGCGGGCCGTGTGGGGCGGGCTGGCCGCGCCTGGGGCGTCCCTGGGGTCCGGCCGCGTAGAGGAGAAGCTGCTGGTCCTGAGCGCCCTGGCCGAGAAGCTGTTGCCCGAGCCCGGCGGCGACCGCGCCCGCGGCGCGCGCGAGGCGGGCCCGGACGCCCGGCGCTGCTGGCGCTTCTGGAGGACGGTGCAGGCGGGGCTGGGCCAGGCGGACGCCCTGACGCGCAAGCGAGCGCGCTACCTGCTGCAGAGGGCGGTGGAGGTGTCGGCGGAGCTGGGGGCCGACTGCACCTGCGGGCCCCAGGAAGGAAACG___GCCCAAGTCTGTTTTGGTGGTCTGAGAGGAAAAAAGATGAGCTTCTAAAGTTTTGGGAAAATTATATTTTAATTATGGAGACTTTAGAAGGAAATCAG___ATACATGTTATAAAGCCAGTTTTACCAAAGCTAAACAATCTGTTTGAATATGCGGTGTCAGAGGAAAATG___GATGTTGGCTCTTTCACCCATCCTGGCATATGTGTATTTATAAAAGAATGTTTGAAAGTGAAAACAAAATCCTGTCCAAAGAAGGTGTTATCCATTTTTTGGAGCTGTATGAAACAAAGATTCTTCCATTTTCACCAGAATTTTCTGAG___TTTATTATTGGACCATTAATGGATGCGCTTTCAGAGAGCTCTCTGTATAGCAG___GTCCCCAGGCCAGCCAATAGGAAGCTGTTCTCCATTGGGACTGAAATTACAGAAGTTTTTAGTCACTTATATTTCTCTTCTTCCAGAAGAAATAAAGA___GTAGCTTCCTATTGAAGTTTATTCGGAAGATGACAAGTAGGCATTGGTGTGCTGTTCCCATTTTGTTTCTATCTAAGGCTTTGGCAAATGTCCCAAGACATAAGGCCCTGGGTATAGATGGGCTTCTTGCTCTCAG___GGATGTTATTCATTGCACTATGATCACACATCAGATTCTCCTGAGAGGGGCAGCCCAATGCTACCTTCTTCAAACAGCTATGAATTTGCTAGATGTG___GAGAAAGTGTCACTTTCTGATGTCTCAACTTTTCTCATGTCTCTGAGACAAGAGGAATCCTTAGGACGAGGAACTTCATTGTGGACAGAG___CTGTGTGACTGGCTACGTGTTAATGAAAGCTATTTTAAGCCATCCCCTACGTGTAGCTCCATTGGACTTCACAAGACATCTTTAAATGCTTATGTAAAGAGCATTGTTCAAGAGTATGTTAAGTCATCTGCTTGGGAAA___CAGGAGAAAACTGCTTTATGCCTGATTGGTTTGAAGCCAAGCTTGTTTCTCTGATGGTCTTGCTGGCTGTGGATGTGGAAGGAATGAAGACTCAGTATAG___CGGAAAGCAGAGAACAGAGAATGTATTGCGGATATTCTTAGACCCTCTTCTGGATGTGCTTATGAAGTTTAGTACCAATGCCTACATGCCCTTGCTGAAGACTGACAGATGCCTCCAGCTGCTGTTGAAGCTGTTGAACACATGCAGGTTGAAAGGTTCCAGTGCCCAAGATG___ATGAGGTGTCTACTGTTCTTCAGAACTTTTTCATGTCTACTACAGAGAGCATTTCTGAATTTATTCTCAGAAGACTTACTATGAATGAGCTAAATAGT___GTTTCAGATCTGGATCGTTGCCATTTATACCTGATGGTGTTAACTGAGCTTATAAATCTGCATTTGAAGGTTGGGTGGAAAAGGGGTAACCCTATCTGGAGAGTTATTTCTCTTTTGAAAAATGCATCCATTCAGCATCTTCAAGAGATGGACAGTGGACAG___GAGCCAACAGTTGGAAGTCAGATTCAGAGAGTAGTGAGCATGGCTGCCTTGGCCATGGTGTGTGAGGCCATAGACCAGAAGCCTGAGCTGCAGCTGGACTCTCTCCATGCTGGGCCCCTGGAAAGCTTCCTTTCCTCTCTTCAGCTCAATCAGACGCTGCAGAAGCCCCACGCAGAGGAGCAGAGCAGTTATGCTCACCCCTTGGAGTGCAGCAG___TGTTTTGGAAGAATCGTCATCTTCCCAAGGATGGGGAAAAATAGTTGCACAATATATTCATGATCAATGGGTGTGCCTCTCTTTCCTGTTGAAAAAATATCACACCCTTATACCAACCACAGGGAGTGAAATTCTGGAACCGTTTCTACCTGCCGTTCAGATGCCAATAAGGACTTTGCAGTCTGCACTAGAAGCCCTCACAGTTCTTTCTTCTGATCAAGTTTTACCAGTGTTCCATTGCTTGAAAGTGTTGGTTCCCAAG___CTTCTGACTTCCTCTGAATCACTCTGCATAGAGTCTTTTGACATGGCGTGGAAAATTATATCTTCTTTAAGCAACACTCAGCTGATATTCTGGGCTAATTTAAAAGCTTTTGTTCAGTTTGTTTTTGATAACAAAGTTCTTACCATTGCTGCCAAAATCAAGGGCCAGGCATATTTCAAAATAAAAGAG___ATTATGTACAAGATAATTGAAATGTCTGCTATAAAGACTGGAGTCTTCAATACACTGATAAGTTACTGCTGTCAGTCTTGGATAGTGTCTGCTTCAAATGTGTCCCAAGGATCTTTATCAAGTGCTAAAAATTATAGCGAACTTATCCTTGAGGCTTGTATATTTGGAACTGTGTTTAGGCGTGATCAAAG___ACTTGTTCAGGATGTACAGACCTTCATAGAAAACCTTGGACATGACTGTGCGGCAAATATTGTTATGGAAAA___TACTAAGAGAGAAGACCATTATGTGAGAATTTGTGCTGTCAAATTCCTGTGTTTATTAGATGGCTCCAATATGTCCCACAAGTTGTTTATTGAGGATCTTGCAATCAAGCTATTAGATAAA___GATGAATTAGTGTCCAAGTCCAAAAAACGCTACTATGTGAATTCTCTACAGCACAGAGTGAAAAACCGAGTGTGGCAGACTCTGCTGGTACTTTTCCCTAGACTTGACCAG___AATTTCTTGAATGGAATTATTGACAGGATTTTCCAGGCTGGTTTCACCAACAATCAAGCATCCATAAAATATTTTATAGAATGGATTATTATATTGATTCTTCATAAATTCCCTCAATTTCTTCCAAAGTTCTGGGATTGTTTTTCTTAT___GGTGAAGAAAATCTTAAAACAAGCATTTGTACGTTTTTAGCAGTTTTATCACATTTAGACATTATTACTCAAAATATTCCAGAAAAG___AAACTAATTCTGAAGCAAGCCCTTATAGTTGTGCTGCAGTGGTGTTTCAATCACAATTTTAGTGTTCGACTGTATGCTTTAGTTGCTCTTAAGAAACTCTGGACTGTGTGTAAAGTGTTAAGTGTTGAAGAATTTGATGCCCTGACTCCTGTGATTGAATCCAGCCTCCATCAAGTGGAAAGCATGCACGGAGCAGG___GAATGCCAAGAAGAATTGGCA)ACGCATTCAGGAGCATTTCTTTTTTGCAACATTTCACCCACTCAAGGATTATTGTCTAGAG___ACCATATTTTACATCCTTCCACGCCTTTCAGGCCTTATTGAAGATGAATGGATCACCATTGATAAATTTACCtGATTCACTGATGTTCCTTTAGCTGCGGGATTTCAGTGGTACCTTTCTCAAACTCAACTTAGTAAACTAAAACCAGGTGACTGGTCTCAGCAAGACATAG|GAAGAAAGAAACAGAAGCTTGCCAAGGAGAGAGCTGGGCTTTCCAAG___TTACCTGACCTTAAAGATGCTGAAGCTGTTCAGAAGTTCTTCCTTGAAGAAATACAGCTTGGTGAAGAGTTACTAGCTCAAG(___GTGAATATGAGAAGGGCGTAGACCATCTGACAAATGCAATTGCTGTGTGTGGACAGCCACAGCAGTTACTGCAGGTCTTACAGCAAACTCTTCCACCACCAGTGTTCCAGATGCTTCTGACTAAGCTCCCAACAATTAGTCAG___AGAATTGTAAGTGCTCAGAGCTTGGCTGAAGATGATGTGGAATGAGAAACAAATGTCAACATAATAAAATCTCAGTTAAAAATATTTTAAAAATTCTTGGTAGTTGAGCAGCTCTGGGGGAATAAGGGCAAATATGCTTGTTATGAACTACACTGAAATCTACCAAAGTTAATGTTTACTTTGTGTAGATCCATTTGTCTATTTTATTTATTTTTCCCAGTGAAAAGTGTATTTTGATAGAGAACTTTTCATTCTATAAATACACTATGAGTTACTAAAATATCATGGATTTTGTTTATTCCTGAAACATAGTTACATAGTTAAACTGTACATATGACATGGCTTATGTTAAAAATACCCAGTGCTCAGTTTTGAAAGATAGGCAAAAAAAAAAAAGTATAGGAGAAACTGAAGAATGTACACTTTTTTAGAGGGCACATTTTGCTGTAAATCTGGAAATTTGATAGACTTGACTGTGTTTGTGAAAACTGAGCATTAAAGGTTTTGATTGATCCTTTCTTTCCATTTAATCTCTGAGACGTAAATATGTGAGGTGTGCTGCTGTGCTGGGTTAACAGCTTCCTTCCCTTTCTGTGTAGCAGTCTTGAAATGTTCTGTTTAAATCAGTAGGCTTAATGTGTTCTGGGTATTTATCTCCTTGTATTTTAAATATATGTAGTTGCAAATAGCACCAGGAATTAGATTTCTGTACACCCCTAATCTAGCCTTGTGAGCTTCGCTAGTTAATGTGTGCTCACTTTCCCTCCATTTGTTACGTGAGAGAATGCGTCTGCTGATCACTGAAGTGTCCCTTTTAGCTTCTGATTCATTGGGTTCTGTTGGGCATCTTTAAATCCACCTTAACCTGAGGAATGTATGTGGGCAACCAGGCCCTGCATTTTTTTATATTCTGAATTTTGCATGCTTGCCTGACTTAGTATTTCTGAATTGATGTTTTTTTTAATGGTATAACTATCTTGATTTTCACTGAAATTATATGGTTCTGTCACTACTCTGTAAATTAATCCGAAACTTTTAAGGTAACTGGGATGATCTGCTTGTAAAAATGCTTGTTGCCTTTTGCTTTATCTTCAGTGTACCTCCTTAATCCTGCTTCAACTTGATTATCTTGTGAAACGATGAGAGTAAGTTGCAACCTTGTGACTGAAAACTTGAAAAGAGTGGAGCAGGTGGGACCTCTTATTCTCAAATAGTGACATATTCTCCGTAGTCACAGTTTCAGAACTGAGTAAGGATCCTTGGTACTTGGTGGCATCTGTTGAACTGAGGAGCATTTCTCATTGTAAAGATTGCCTTTGTTCTGTCTAAAAGTCTGGAGAAATCCCAAAGACTTTTCCTATGTACTAGGCATTTTATTTTGATTGACTTACAAACTCTTCTTAATCATTATCAATCTCGGTTTTTTTGTGGTGCAGTGGAAGGAGAAATAGGTCTAGTTTCTGCCTCTGATTAGCCGCACAGCCTTGAACAAATCACATTTCATCTTTGAACTTACCTCTACTGTTAGACTAGGCGACTCACATTTGAGGACTTTTCTCGGGTATCTTGAGGGTTTGTGATCCTGAACCCTTAAACAGTGCTTTTTTGTTACACAGGAGGGCTTTTTTGGGGGGATGACCAGTACAGACATGCCAGTTAGTTTTACTAGTGGGATCCCAAATCCAAAGCAGTGTAGTGGTGATTGGTCAGTGACTAACCAGGCAGCTAAGAAGTCTTAGGCAGCAGCCCAGACATGTATAGAGGGGCAGTTAGAGGGAGAACAGGGGTGGGAAAGGGAGCAAGGGGCAGATAGCTCAGCAAGGAAAGAATGGGCTCAGAAAAAGGAGGGCTGGCTGGAGGAGTGAGGGGCAGCTTAAGTTTGGGGAGGGTAGAAACGCCGTTTCCTTGGGAACTGGAGTGCAGTATGAGCTGGGTGTCACTTGGCTCTGAACATACTGGCTTTGCTGTAATGCTTGAAAAGGCGTTGGTATCTTCATTTTACAGTTCATTAACCCAAGTACGTTTTCTTATTTAAATGACAACTTTGGTGCTTTAAAATGAGGTACCACTTTTTAAAGCTAGCTGTGTCGAGTTAAAGAAAAAATCAGCAGTTTTTTCTCCCAGAAATGTAATTGCCAAACACTATTCATCCCCATCTTAAGTTTTACAAGGTGATGTAATCAGCTTGTTGTAGTGATGCTGGCCAAATGGTGCTCAGCAGGTGAGAACAAAAAAACCCCAGATCTCAGTGAACTAATACACAGCTTGAGCGTTTCCATGTGCTAATGTTGCACACTTACTAAAAAACTTTGGAAATGGAAAATAATGTATTAGTGCAACAGTTGATGTGCTTCTTTGGGCAAAGATATAGTTTTGTTCCACAATTTGTACTTAAAAGCGAAAGAACATTGAAAACATAGACTTACTGGCTGTAGCAATGCTGGCCTGTTAACTGATAACTAGAACTTAGGTTCACGTTTATGTAAAGTGTGTAAAACCTAGTAGAGCTTGCATAGTCGGCACTCAGTAAATGTTTGGTTCCTTTTGCCCCTTGGTAAGTTTATTTTACCATCCTCCCACCTGCCATTCTGACTTTATTAAATCAACATGTGGACCAGAGTGTTAATGAGATGTTATTGCAGAAGAGATTGAGAAAATTGGTATATCATGCAGATAACATACAAAATCTTTTTGTAACGTAAAAAATGCAGTTTTATTATTGCTTGTGCCTCAACTGTTTAAGTGAATATTAAAGGGCTTGGAGAAAA)$ MEWVLAEALLSQSRDPRALLGALCQGEASAERVETLRFLLQRLEDEEARGSGGAGALPEAAREVAAGYLVPLLRSLRGRPAGGPDPSLQPRHRRRVLRAAGAALRSCVRLAGRPQLAAALAEEALRDLLAGWRAPGAEAAVEVLAAVGPCLRPREDGPLLERVAGTAVALALGGGGDGDEAGPAEDAAALVAGRLLPVLVQCGGAALRAVWGGLAAPGASLGSGRVEEKLLVLSALAEKLLPEPGGDRARGAREAGPDARRCWRFWRTVQAGLGQADALTRKRARYLLQRAVEVSAELGADCTCGPQEGNGPSLFWWSERKKDELLKFWENYILIMETLEGNQIHVIKPVLPKLNNLFEYAVSEENGCWLFHPSWHMCIYKRMFESENKILSKEGVIHFLELYETKILPFSPEFSEFIIGPLMDALSESSLYSRSPGQPIGSCSPLGLKLQKFLVTYISLLPEEIKSSFLLKFIRKMTSRHWCAVPILFLSKALANVPRHKALGIDGLLALRDVIHCTMITHQILLRGAAQCYLLQTAMNLLDVEKVSLSDVSTFLMSLRQEESLGRGTSLWTELCDWLRVNESYFKPSPTCSSIGLHKTSLNAYVKSIVQEYVKSSAWETGENCFMPDWFEAKLVSLMVLLAVDVEGMKTQYSGKQRTENVLRIFLDPLLDVLMKFSTNAYMPLLKTDRCLQLLLKLLNTCRLKGSSAQDDEVSTVLQNFFMSTTESISEFILRRLTMNELNSVSDLDRCHLYLMVLTELINLHLKVGWKRGNPIWRVISLLKNASIQHLQEMDSGQEPTVGSQIQRVVSMAALAMVCEAIDQKPELQLDSLHAGPLESFLSSLQLNQTLQKPHAEEQSSYAHPLECSSVLEESSSSQGWGKIVAQYIHDQWVCLSFLLKKYHTLIPTTGSEILEPFLPAVQMPIRTLQSALEALTVLSSDQVLPVFHCLKVLVPKLLTSSESLCIESFDMAWKIISSLSNTQLIFWANLKAFVQFVFDNKVLTIAAKIKGQAYFKIKEIMYKIIEMSAIKTGVFNTLISYCCQSWIVSASNVSQGSLSSAKNYSELILEACIFGTVFRRDQRLVQDVQTFIENLGHDCAANIVMENTKREDHYVRICAVKFLCLLDGSNMSHKLFIEDLAIKLLDKDELVSKSKKRYYVNSLQHRVKNRVWQTLLVLFPRLDQNFLNGIIDRIFQAGFTNNQASIKYFIEWIIILILHKFPQFLPKFWDCFSYGEENLKTSICTFLAVLSHLDIITQNIPEKKLILKQALIVVLQWCFNHNFSVRLYALVALKKLWTVCKVLSVEEFDALTPVIESSLHQVESMHGAGNAKKNWQRIQEHFFFATFHPLKDYCLETIFYILPRLSGLIEDEWITIDKFT*FTDVPLAAGFQWYLSQTQLSKLKPGDWSQQDI|gRKKQKLAKERAGLSKLPDLKDAEAVQKFFLEEIQLGEELLAQGEYEKGVDHLTNAIAVCGQPQQLLQVLQQTLPPPVFQMLLTKLPTISQRIVSAQSLAEDDVE* 11CO022 ENSG00000137770.14 ENSG00000092439.16 +/+ -/- chr15:44427772 chr15:50605144 5'UTR/splice-site CDS/splice-site inversion 6 9 0 43 45 high . . |Alpha-kinase_family(100%),Ion_transport_protein(100%),Tetramerisation_domain_of_TRPM(100%) . . ENSG00000137770.14 ENSG00000092439.16 ENST00000260327.9 ENST00000646667.1 downstream downstream mismatches(1) ^(GCAGCAGGTCGGTAGGC)GGGAAATGGCGACTGGCTGAAGGAGCTGGTTCTGTTGCTGCTGCGGGGTAAGCGGGAAAGACACCACACATTGCGCAGTCGGGACCATCGCCGGAGCCTGAGGACACTTCTCTGTCGTCACAGTTAG|ATCTTTATGTCTGAAGCTGGGAAAGTAAACCAGAAGATTAAAGTATGGTTTAGTGATTACTTCAACATCAGTGATACAATTGCCATAATTTCTTTCTTCATTGGATTTGGACTAAGATTTGGAGCAAAATGGAACTTTGCAAATGCATATGATAATCATGTTTTTGTGGCTGGAAGATTAATTTACTGTCTTAACATAATATTTTGGTATGTGCGTTTGCTAGATTTTCTAGCTGTAAATCAACA(GGCAGGACCTTATGTAATGATGATTGGAAAAATG___GTGGCCAATATGTTCTACATTGTAGTGATTATGGCTCTTGTATTACTTAGTTTTGGTGTTCCCAGAAAGGCAATACTTTATCCTCATGAAGCACCATCTTGGACTCTTGCTAAAGATATAGTTTTTCACCCATACTGGATGATTTTTGGTGAAGTTTATGCATACGAAATTGATG___TGTGTGCAAATGATTCTGTTATCCCTCAAATCTGTGGTCCTGGGACGTGGTTGACTCCATTTCTTCAAGCAGTCTACCTCTTTGTACAGTATATCATTATGGTTAATCTTCTTATTGCATTTTTCAA___CAATGTGTATTTACAAGTGAAGGCAATTTCCAATATTGTATGGAAGTACCAGCGTTATCATTTTATTATGGCTTATCATGAGAAACCAGTTCTGCCTCCTCCACTTATCATTCTTAGCCATATAGTTTCTCTGTTTTGCTGCATATGTAAGAGAAGAAAGAAAGATAAGACTTCCGATGGACCAA___AACTTTTCTTAACAGAAGAAGATCAAAAGAAACTTCATGATTTTGAAGAGCAGTGTGTTGAAATGTATTTCAATGAAAAAGATGACAAATTTCATTCTGGGAGTGAAGAGAGAATTCGTGTCACTTTTGAAAG___AGTGGAACAGATGTGCATTCAGATTAAAGAAGTTGGAGATCGTGTCAACTACATAAAAAGATCATTACAATCATTAGATTCTCAAATTGGCCATTTGCAAGATCTTTCAGCCCTGACGGTAGATACATTAAAAACACTCACTGCCCAGAAAGCGTCGGAAGCTAGCAAAGTTCATAATGAAATCACACGAGAACTGAGCATTTCCAAACACTTGGCTCAAAACCTTATTGATGATGGTCCTGTAAGACCTTCTGTATGGAAAAAGCATGGTGTTGTAAATACACTTAGCTCCTCTCTTCCTCAAGGTGATCTTGAAAGTAATAATCCTTTTCATTGTAATATTTTAATGAAAGATGACAAAGATCCCCAGTGTAATATATTTGGTCAAGACTTACCTGCAGTACCCCAGAGAAAAGAATTTAATTTTCCAGAGGCTGGTTCCTCTTCTGGTGCCTTATTCCCAAGTGCTGTTTCCCCTCCAGAACTGCGACAGAGACTACATGGGGTAGAACTCTTAAAAATATTTAATAAAAATCAAAAATTAGGCAGTTCATCTACTAGCATACCACATCTGTCATCCCCACCAACCAAATTTTTTGTTAGTACACCATCTCAGCCAAGTTGCAAAAGCCACTTGGAAACTGGAACCAAAGATCAAGAAACTGTTTGCTCTAAAGCTACAGAAGGAGATAATACAGAATTTGGAGCATTTGTAG___GACACAGAGATAGCATGGATTTACAGAGGTTTAAAGAAACATCAAACAAGATAAAAATACTATCC___AATAACAATACTTCTGAAAACACTTTGAAACGAGTGAGTTCTCTTGCTGGATTTACTGACTGTCACAGAACTTCCATTCCTGTTCATTCAAAACAAG___CAGAAAAAATCAGTAGAAGGCCATCTACCGAAGACACTCATGAAGTAGATTCCAAAGCAGCTTTAATACCG___GATTGGTTACAAGATAGACCATCAAACAGAGAAAT___GCCATCTGAAGAAGGAACATTAAATG___GTCTCACTTCTCCATTTAAGCCAGCTATGGATACAAATTACTATTATTCAG___CTGTGGAAAGAAATAACTTGATGAGGTTATCACAGAGCATTCCATTTACACCTGTGCCTCCAAGAG___GGGAGCCTGTCACAGTGTATCGTTTGGAAGAGAGTTCACCCAACATACTAAATAACAGCATGTCTTCTTGGTCACAACTAGGCCTCTGTGCCAAAATAGAGTTTTTAAGCAAAGAGGAGATGGGAGGAGGTTTACGAAGAGCTGTCAAAGTACAGTGTACCTGGTCAGAACATGATATCCTCAAATCAGGGCATCTTTATATTATCAAATCTTTTCTTCCAGAGGTGGTTAATACATGGTCAAGTATTTACAAAGAAGATACAGTTCTGCATCTCTGTCTGAGA___GAAATTCAACAACAGAGAGCAGCACAAAAGCTTACGTTTGCCTTTAATCAAATGAAACCCAAATCCATACCATATTCTCCAAG___GTTCCTTGAAGTTTTCCTGCTGTATTGCCATTCAGCAGGACAGTGGTTTGCTGTGGAAGAATGTATGACTGGAGAATTTAGAAAATACAACAATAATAATGGAGATGAGATTATTCCAACTAATACTCTGGAAGAGATCATGCTAGCCTTTAGCCACTGGACTTACGAATATACAAGAGGGGAGTTACTGGTACTTGATTTGCAAG___GTGTTGGTGAAAATTTGACTGACCCATCTGTGATAAAAGCAGAAGAAAAGAG___ATCCTGTGATATGGTTTTTGGCCCAGCAAATCTAGGAGAAGATGCAATTAAAAACTTCAGAGCAAAACATCACTGTAATTCTTGCTGTAGAAAGCTTAAACTTCCAG___ATCTGAAGAGGAATGATTATACGCCTGATAAAATTATATTTCCTCAGGATGAGCCTTCAGATTTGAATCTTCAGCCTGGAAATTCCACCAAAGAATCAGAATCAACTAATTCTGTTCGTCTGATGTTATAATATTAATATTACTGAATCATTGGTTTTGCCTGCACCTCACAGAAATGTTACTGTGTCACTTTTCCCTCGGGAGGAAATTGTTTGGTAATATAGAAAGGTGTATGCAAGTTGAATTTGCTGACTCCAGCACAGTTAAAAGGTCAATATTCTTTTGACCTGATTAATCAGTCAGAAAGTCCCTATAGGATAGAGCTGGCAGCTGAGAAATTTTAAAGGTAATTGATAATTAGTATTTATAACTTTTTAAAGGGCTCTTTGTATAGCAGAGGATCTCATTTGACTTTGTTTTGATGAGGGTGATGCTCTCTCTTATGTGGTACAATACCATTAACCAAAGGTAGGTGTCCATGCAGATTTTATTGGCAGCTGTTTTATTGCCATTCAACTAGGGAAATGAAGAAATCACGCAGCCTTTTGGTTAAATGGCAGTCAAAATTTTCCTCAGTGTATTTAGTGTGTTCAGTGATGATATCACTGGTTCCCAACTAGATGCTTGTTGGCCACGGGAAGGGAAATGACTTGTTCTAATTCTAGGTTCACAGAGGTATGAGAAGCCTGAACTGAAGACCATTTTCAAGAGGGACGGTATTTATGAATCAGGGTTAGGCTCCATATTTAAAGATAGAGCCAGTTTTTTTTTTTAAATAGAACCCAAATTGTGTAAAAATGTTAATTGGGTTTTTTAAACATTGTTTTATCAAGTCACTGTTAAGTAGAAGAAAGCCATGGTAAACTGATACATAACCTAAATTATAAAAGCAGAAACCTAACTCACTCGTCAAGGGAAGTTACCTTTTGAGGAAAGTTAAAGTACTTTTTTCCCTATCTGTATCTATAGCAACAACCCAGAACTTACAAACTTCTCCAAAGATTTTATTGATTGTTATATCAAATCAGAATGTAAACATGAACTCTTGCATATATTTAAAATTGTGTTGGAACATTTGAACATGAATGCTGTTTGTGGTACTTAAGAAATTAATTCAGTTGGATTATCATTATGTGATACTGGCAGATTGCAGTGCAACCTTATGCCAATAAAATGTAATTTAACAGCCCCAGATATTGTTGAATATTCAACAATAACAAGAAAAGCTTTTCATCTAAGTTTTATGCTTTAATTTTTTTTCTTTTTTTTTCTTTTTCTTTTGTTTCCTTGGTACTAATTTTAATTTTTATTTGGAAGGGAGCAGTATAAAGCTTATTTGTATTTAGTAGTGTATCTCATAGATACAGACAAGGCAAGAGATGATAAGCTGTTTAAATAGTGTTTAATATTGATTGGGGGTGGGGAGAAAGAAAAAGTGTATTACTTAAAGATACTATATACGTTTTGTATATCATTAAATCTTTAAAAGAAATGAAATAAATTTATTGTTTACAGATGTTTAGTGAGTTTAATCATTCTGAAAAATTATCTGACATTTTCAGGGTGTCAATTTGAGTATCAGTTTTTTTAAATGAACCATTTGTATACCTGTGCTTTTGATCTCCTGTCCTGTACAATGTTTAAATTAATACTGATTTCTTACTGTCTTCTTAGAAATCTGTTTTTTGTTAGGCCAAAAAAGGGCAATATGGGCTGTCTGTTGATTTTTAATTTTATATTGATTATTTTCACAGGATTATAATAGTAGCTATACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCTTGGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCGCCGCCTTCCGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGTGTGGTCACAAACTCCTGACCTTGTGAGCCACCGCACCTGGCTGCTAACACTTATTTAGTGCCTACTGTGTACCAGACATTACTCTAAGTATTTCACATATATTAACCTACTTAATCCTTATAACAATGTTATAAAGAAATAGGTGTTATTATCCTGTTTTGCAGATTTGAAAGTCAAGGTGCTAGAGAGGTAAAGTAACGTCCATAAGATTCTTACGTTTATTTAATAATAAGTAGCAACGGTAGGATTTGAACCCAGGCTGGCTGCCTTTCATCTATACTGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTCTTGGTGGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGTGGATCACTTGGGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCCTATCTCTGCTAAAAAAAAAAATACAAAAATTAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGCGGTGAGTGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCGCTCCAGCCTGGGCAACAGTGCGAGACTCCGTCAAAAAAAAAAAAATAACTGGATGTGATGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGACTGAGGTGGGAGGATCACTTGAGCCTGGGAGACTGAGGCAGCAGTGAGCTGAGATCATGCCACTGCTTTCCAACCTGGGCAACAGAGTGAGATCCTGTCTCAGAAAGAAAAAAAAAAAAAAGACAACCTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTAGCGTGATCATAGCTCACTGCAGCCGTAAACTCCTGGGCTCAAGCAATCCTCCTGCCACTGCCTCTTGATTAGGTGGAACCACAGGCATGCACCACCACACGTACCTAATTTTATATATATATTTTTTTATTTTTCATTTTTATTTATTTTTGTTTTTTTGAGTTGAAGTCTCACTCTGTTGCCCAGGCCGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAAGATCAAGCAATTCTCGTGCTTCAGCCTCCAAAGTAGCTGAGATTACAGGTACCCACCATAATGCCTGGCTGATTTTTGTATTTTTCGTAGAGACAAGGTTTCACCTTGTTGGCCAGGCTGATCTCAAACTCCTGACCTCAAGTGATCCACCTCCCCCGGCTACCCAAAGTACTGGGATTATAGGTGTGAGCCACCATGCCTGGGTAACACCCAACTAATTTTAAATATATATTTTGTAGAGATGGGGTCTAGCCTTGTTGCCCACGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTCTCGCCTGAGCTTCCCAAAGTGGTAGAATTGCAGGCATGAATTGCTGCACCCAGCCTCATCTGTGCTGTGAATTATGTGCTGTATTGACTCTCAAGCATGATGACCATTGGTGGTTTCTGTACCATTTCCTGTTACTTTACTGAAACACACCTACTCCATTAACTTCTTGGGTTAAGTCTAGAAAGTAACAGTTTACTTGTAAACCACATTTCTTATCCCCAATAAGTATTTTTTTAAGATTATTAAAGTTCATTATTACTACCCTATGATGTGAAAGTGTCATTTGCTTAATCTTTTTAATTTTTTATTCTCAACCTCATCTTACTGAAGAGAATAAAACTCTTTTACCATATTCTTAAAATGTGGAATTCTCGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCATCACTTTGGGAGGCCAAGGTGGGTGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCGCGTGCCTGTAGGCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCTAGATTGCTGCCACTGCACTCCAGCCTGGGTGACAGCAGAACTCTGTCTCAAAAAAAAGATGTGGAATTCTTTTCTGCAAATGTTCTCTAATAGTATACCTTCTTCAGTCTGTCGATATATGTATGCTATTATTTTACAAGTAATACATGTTGATTGTATTGGAAATTATAGAAAAGATTATATTGGATTGTTTAGAAAATATTTTTAAATGTGAAGAAAAATATAAAAATTACTCCCTTGTTCCACTTTCCCCACTCTCAAGTCAGACTATGTTGTTTTCATAGTTAGTAGCTAGCAGTCTACCCCACTAGATTATATGCTTCACAGAGGGAAGGGACCCTCAAGACTTCACTGGATTGAGTAGCACCCAATACCTTGCTTGCTGCCTGGTTTGTGATGGGCATACTGTAAGAAAAAAAAATCTGAATGACAAAATGTTTTTCCATAATACCAGACTTCCTCTTGAAGAGATGGGTCGTAATGTTGTAGTCTTACATGCTTACGTAGACAATCAAAGCAAGAATACTCAATAAATGGCTATTTACCACTTGAAA)$ . 11CO022 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 12 0 23 134 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTaTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGC???------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCT(TGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO022 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 18 14 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . AAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGAC(ACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO022 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 5 0 125 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___ATCTAATGAGGCGTCAAGAA)GAACTCAGACGCTTGGAAGAACTCAGAtACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRyQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO022 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 14 12 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . CTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAG(AGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO022 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 6 5 0 23 60 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream mismatches(3) ATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTG(TCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO022 ENSG00000134644.15 ENSG00000048707.15 -/- +/- chr1:31028796 chr1:12253155 CDS/splice-site intron deletion/5'-5' 2 1 0 123 4 high out-of-frame . . . . ENSG00000134644.15 ENSG00000048707.15 ENST00000373747.7 . upstream downstream mismappers(1) ^(GTTGTCGGAGTGAAAGGTAAGGGGGAGCGAGAGCGCCAGAGAGAGAAGATCGGGGGGCTGAAATCCATCTTCATCCTACCGCTCCGCCC___GTGTTGGTGGAATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGGACTCTTTCAGCCCCCACCTGAAACATCACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCTGGAACAGGGTCGCAAGCGCAGCCACAACCAGCTGCAAATCAGGCTCTTGCAGCTGGGACTCACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCCAGGACGACGCTATGGTGGACTACTTCTTTCAGAGGCAGCATGGTGAGCAGCTTGGGGG)AGGAGGAAGTGGAGGAGGCGGCTATAATAATAGCAAACATCGATGGCCTACTGGGGATAACATTCATGCAGAACATCAG___GTGCGTTCCATGGATGAACTGAATCATGATTTTCAAGCACTTGCTCTGGAGGGAAGAGCGATGGGAGAG|ATGGAGTTTCGATCTTGTTGCCCAGGCTGGAGTACAACGGCACGATCTCGGCTCACCGCAACCCCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCATG MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEHQVRSMDELNHDFQALALEGRAMGE|mefrsccpgwsttarsrltatptsqvqvillpqppe* 11CO022 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 9 6 1 207 32 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream duplicates(3),low_entropy(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCAT)CGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGcCGcGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCA?AGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTA . 11CO027 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 22 1 55 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(2),mismappers(2),mismatches(5) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG(___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO027 ENSG00000103335.22 ENSG00000167508.12 -/- -/- chr16:88784901 chr16:88653408 CDS/splice-site CDS/splice-site deletion/read-through 14 17 0 107 153 high out-of-frame . . . . ENSG00000103335.22 ENSG00000167508.12 ENST00000301015.14 ENST00000301012.8 upstream downstream duplicates(6),low_entropy(37),mismatches(1) ^(GGGAGCCGCCGTCCGGCCCAGCTCGGCCCCAGTGAGCCGAGCGCTGCGCTCCGCCGAGGGGCAGGGCGGTCGCCTGAGCGAGCGCGGGCCCGGGACGTCGGCACCGGCGGGGCGGCCGAAGGAGAAGGAGGAAGAGGAGAAGGCGGCGCGCGGGTCCCCGCGGGTCAG)CCATGGCGCGCCGGCCCCGGGGCCCCCGCACCGCCCCATAGCGCCGCGGCGTCCGCTCGGTCTGGGCCGGGCCCTGGGCCCTCCAGCCATGGAGCCGCACGTGCTCGGCGCGGTCCTGTACTGGCTGCTGCTGCCCTGCGCGCTGCTGGCTG|GTTTCTGAAGGGGCTGCAGGTGAGGCCGGCCCCTCTCTCAGCTGAGCTTCAGGCTGCGCTGGCCATGGAGCCGACCCCCGGTGGGGTCAAATACATCATTGTCACTCAG___GTGGGGCCAGGGCCTCAAATCCTGGATGACCCCTGCGCCCACCTCCTGGGTCCTGACGGCCTGCCGAAGCCAGCTGCCTGACTGCCTCAGCAGGGACCGCATGCCGCTTGGAGAAGGGGTGGCCTCGCCGGAGCTAGGGAGCGGATGTGGTGGGCTGGCCGGACTCCTGGGACATGTGGGTGGTGGCTTGACCCCGGGCCCATGGGCAGCTTGCTGTGGG(GCAGTGCAGGGAGTCCTGCGGCCGCCCAGGTGTCAGGAGAGGTCCCCGCCGAGTGCTTCAGCTGCCCTAAGCTGCACCAGCGCTTTGCCAAGATGGGATGGGGAGGGGGTATGAGAACTGGCAGAGCCTCGGTGCAGCAGGGCTGAAGGGCTTTCTCACCCCAGCTCTGGCTATGCCCAGTTCTCTGAGAAAGGAGCTCAGTGGGGAGGTGGTCCCTCCAGCGGACCAGGGAAGGGGTCACCGTGCTGGGAGCAGCCTCCTTGGGCCTCAGGAAACCACCAAGTGCCTCGGATGGTGGCTGCCCACGGCGCTTCTGCTGAGACCCTGCCCCCGGCCCAGGTGTCTCGGAGGGTGGCTGCCCACGGCCTGGGTGTGGCTGGAATGGTGGCAGGAGTGGGCACCAGTGCGGCCCCGGTGGCCATGGGGAATAAACCAGCATTGCTGCC)$ MEPHVLGAVLYWLLLPCALLA|gf* 11CO027 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 7 11 0 22 33 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) CTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTG(CATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO027 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 6 10 0 40 57 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(1),inconsistently_clipped(1),mismatches(1) CAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGG(CAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO027 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 4 12 0 25 66 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(2),mismatches(1) CTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAG(TATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO027 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 9 0 29 27 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),inconsistently_clipped(1) CCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGC(TACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO027 ENSG00000124782.20 ENSG00000285717.1 +/+ +/+ chr6:7182082 chr6:6488876 CDS/splice-site exon/splice-site duplication 5 7 1 17 14 high out-of-frame . . . . ENSG00000124782.20 ENSG00000285717.1 ENST00000379938.7 ENST00000649026.1 downstream upstream . ^(ATTCCTTTTCCGGAACAAGTTTGCATCTCTCCTCGGTCTCTCCCTGAAGCCCACCGGTCCCCAACGCATCATGCCAGGGAGCCAAGCGTCCTGCCCGGCC___GTTGCTCCGACTGTGTGTTCCAGGAGTGGTGGCTCTGAGGTGTGACCCTGCCCACGTTTGGGCCCAGCCAGGTTCAGCCCCCCAATAAGGAGGGCAGCTTGATAACACAAAGAAAACAG___TGTCAACGAGTACTACCAAGAGAAGAAGACAAGAGGTCAACACAGACTCATTTTCTACTCCGTGTGAATGATAGCTACAGCAGGGGAAAGTTTCATAGTCTATCAGTGGGTCAGAAAATGGAG___TTTTATAGCAGAGG)CTTCTTAGAAGCTTAAACCCCTGTCCCAATGACGTCAAGTTCGCCCGCTGGCTTGGAAGGTTCAGACCTATCTTCCATCAACACCATGATGTCGGCGGTCATGAGTGTAGGGAAGGTCACAGAGAATGGCGGGAGCCCCCAGGGGATCAAGTCCCCCTCGAAGCCTCCAGGACCAAATCGGATTGGCAGAAGGAACCAG|AAACAAGCCAGAAGGCAAGATCAGGCTTGCCATTCTTCTGAGAAGGACCCCAGAATCTCACCTCTCCAGATGGCCTAAG(___GATCAAGAGAGAAGGATCACACACTCTATCTCTGGAGCTTTAACACGTGGGCTGCCTTAACTCCAAGATCTTCTGAGAAAGAGCTCCCATCAGCACCCTTGGATACAGCAACTGGCACCACACTCTGAACCGATTGAGCTTCTCCAGCAAAG___ATTATGTACTGGACCCTCCAATATATAAATGATCATTGATGTCTTGGATATGAAGGAGATTGTCCAGCAGAGGTGTACAGAAGAAGAGGATCCAGAACAGAAACTCAGTACCAACAACTTTAGGATGGGGACGAGGAAGAGGAGAAGACACTGGAGTCTGAGAAGTGTCCACAGAGCTAGAAATAAGTAATCAAAGTGTGGTTCCTGCAAGCCAAGGGAAGAGAATGTTTCAAGGGAGTAGGATTGGTCAATGTTTCTGAGAAGCCACAGAAGACAAAGACAGTCACTTAGTAACTGGGATGGCCCTGGTCATCTGATCAGAGCAATTTCAGTGGAAGCATCAGGGTAGGAACCACAGAACAGGACATGGAAGGTAACAAGGAAAGGTAGAGTGTAAGCAATGTCATGTCCATTACTTTCAACCGTCACATCAATCCTGCAAGCCAGGTATTGTTTTCTTCCCTTTGAAAAATAGGAAAAAGAGAGTTGCCCAAGATGACACAGCTAAGATTTAAACACAAGTCTGAGTGGCAGAAAGACAAAGTCCTTTCCACACACCACTGCCTCCCCAAGCACTTAGCCACCTGTGTGTCTCCGCTGACAATGTTGGAAATTTCTGATAACACTGCACTGAGCAGTGGGATGGGGACACTATGCAGTATGCTTGTTTGTTAACAGAGAAATAAAGTTACATGGAAAACTGGAAAAAAAAAAACAGCAGCAACTTTGCTCTTCTCTTTGTAGCAATGTGTGTGTTTGTTTTCGTGGGCCCTGTTCGTGGACTCCTACTGAACATCTCAGAATTCTTTGGACTCAGATACCTCTTTGCTGTAGTGCAAAGATGCTGACCTGCCAAAAGTGTGTTACAGGCTGTGCCTCTTTGAAGAACCAGCTTGAACTGATTGTTCTTCAGCTTCTCACATAAATTAGAGAACATGAGGCCCACAGCTTTGCCCAAAGTTGTCAACAGGTTTTAATTGTCTCTGCTTTTCCGTACACACAGATGGCTTGGTTAAGCTGCTCTGAGCAGACCTCTACTGTCTCCACTAAGAAAAATTAGACACAACAAATGGAAATCCATTTAAAAAGAAAAGTTATAATAAGGTAAAGTCCTAAGTAACTGTGGCTATTTTTTATGAAGGTAAATGCTATGAATAGTAGCCATGACAGTGCAGAGATAGAGGCAAATTAAGAAAAACTGTAACGAAAATGTGAACTTTTGAAGGCAGGTGCAGAAACTATCAAGAAAAGTAGATAGAAGTATTTGGAAAGGAAAGGAGGTTCTTTTTTTACTGATGGCATCTATAATAGGCCTTGAATTTCAAGTTTATTTTTCCAGGTTCACTCAGAGAAGCTAGAAATGATTCAACAATTATGCTTACAGGAATCTGTCCTTCAGAAATAATACAAGTGTGTAGAGTTATTTTAAAAGATTATATTACAACACTGTTTATAGTAGCAAAAAATTGGAAGCAAACTATTAGATTGGTGCAAAAGTAATTGCTGTTTTTTGCTATTGACAGTAATGGCAAAACCGCAATTACTTTTGCATCAACCTAATAATTAGTTAAATGTAGTTTACATAACAAAACATTGTACACCTAAAGTTAATAATATGAGCTTAAGTTCGTAGAAGGTCAAAGGGTATAAGCATCTTGCATGTTAAAAGGCATTGCTACATTGCACTGTGTAAAGGTTGTACCAAATTACATTTCCACCAACAGTATATGAAAGAACCTATGTCTGTACATTCTAACCAATGCAGCATGTATTACTAATGTTACAGGTTAAAAATAGGTAAGTAAATTATGCATCATTATCATTCTAATTACTATTTCCTTTATTATAAATACAGTTGAACACCATTTTGTTTCATTTGAGAACAATCATTTATATTTTCTTTACTATAAGTTACCCCTTCAGGGACATTTGCAGTGGCTCACGTCTGTAATTCTAACACTTTGGGAGGGCAAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGACCAGCCTGGGCAACATGGTGGAACCCTGTGAAAGGAAGAAGAAACAAAGAGAGAAAGAGAGAAAGACAGAAAGAAAGACAG)$ MTSSSPAGLEGSDLSSINTMMSAVMSVGKVTENGGSPQGIKSPSKPPGPNRIGRRNQ|kqarrqdqachssekdprisplqma* 11CO027 ENSG00000168785.8 ENSG00000145348.17 -/- -/- chr4:98658146 chr4:106046680 CDS/splice-site CDS/splice-site duplication 0 9 1 6 42 high in-frame . Tetraspanin_family(100%)|Rhodanese-like_domain(100%) . . ENSG00000168785.8 ENSG00000145348.17 ENST00000305798.8 ENST00000273980.10 upstream downstream . ^(AAGCGAGCGGCGTCTCCACCAGCATCTGCCGCGGCCGCCTTTGCCCGAAGCCCGGGGACGAACCGACGGACCGACCGCCTGGCGCACGGACGCGGGCGCTCGCTTTGTGTTCGGGGCTAGCGTCGGCGAGGCTTGAGCTTGCAGCGCGCGGCTTCCCTGCTTTCTCGCGGCCACCCCGGCTCCGGCGGCCTCGGCGCGCGAGGGGCTGGAGGTGCGGGAGCCGCTCTCCGCCGGTCGGTCCCCGCGCGGCTGAGCCCAGGCCGCCAGCGC)CGCGGCCCCGTGCGGTGTCCCTGAGCTCCTGCTCCCCGCCGGGCTGCTCCGAGCAACGGTGCTTCGGAGCTCCAAACTCGGGCTGCCGGGGCAAGTGTCTTCATGAgCCCAGAGGATGTCCGGGAAGCACTACAAGGGTCCTGAAGTCAGTTGTTGCATCAAATACTTCATATTTGGCTTCAATGTCATATTTTGG|TTTGCAGCTCACCTTGTGAAGATGAAATATCCAAGAATCTGTATTCTAGATGGTGGCATTAATAAAATAAAGCCAACAGGCCTCCTCACCATCCCATCTCCTCAAATATGAAGAACCAAGAGTGTGACTGCCAAAACTTAGTGTGGCATCAGCACCAACAGCACAGTTCTTCATATCCACGCC(ACTCTCAGACAAAACTAGATGTCCAGATTGTTGCATTTCCGTAAAGTTTGTCACGAGACATTTTTTAAAATCTCATAACCCACATGTTCAGTTATCCATGCAAGAAACTTGACTCTACATGTATTGCTGAAAGAATTTTCTTAACAGTGAAATCTGATCATATATTTTTACCACACTGCCACATAAAGCCCAAGAAATTCAGCTGACAAGACAGATTTAGCATTATCAAGAAATCCCATTTGCCCTGAAAAAGCTGTCCTCCATTGTACTGAACAGACAGTCCTGTCGATTGTGTTATTTAGAAACATACACTGAATGTGGGCTGAAATCATCATCTTTCCATAATGAAAACTGAGAAACTATTCACAATGCATTCCTTATAAATAAATGCTACATTTAGTAACTCATTTCACCCAAACAAGGGGGATGTGTGTGTGTGTGTGTGTATAGGAAGTGGAGTTTATCCCATTGCAGAAAGTGGTAATACTTACTCCCAGAAAAATGAAATTTAGAAACCATTTATATTTGATAGAATATTTGGTCAGTTCCTGTAGCAAAGACGAATGGCTTAAACAAATTTTCTAGTTTCTTTATCACATGAAAGTCTGTACAGTCAGTCCAGGGCTAGTCTACTGGTTTCCTGATCATTAAGAACTCATTACCTTCTCTCATTGCTTTACAAACCTCAATATGTGGCATCCATCTCATGGATGAAAATGGCTCCTCAGCTTCTACCATCACATCTGCTATCTAGAAGGAAGAGAATGAGGGAAGGAGGGAGGGGATGAAGAGAAAAGAAGGAACAAAAGAAGGAGGGAGGAAAGAAGAAAAGAAAGGAAAAGAAGCGAAGCACACTCCTTCCCTTTAAGGTCATAAACCAGAAGTTGCGCACACTACCTCTGCTTACATATCATTGGCCAGAACTTGGGTGCATGGCCACACCTAGCTTTAAGGAAAACTGGAAATAGAGTCTTTGGGTGGTTGATCATTTCCCCAGCTAAAAACATTCTTATTACTGTGTGGGAAGAAGAGAGTACATATTGAGGTACAGCTAACAACCTCTGCCTCTGCCACATTGTTTTTAAAATGAGTATTATATTTCATTAAATCTAAGACATCTCACAATTTTAGGTACCACAAAGAAAAAATGAAGCCAAATGAATTGTGACACTTTGTCAATTAAAAGACACATTCCCTGGGAGGCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACTTTGTCTCTACTAAAAATATAAAAATTAGCTGGTCATAGTGGCACACGTCTGCGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGAGAGGCAGAGGTTGCAATGAGCCATGATAGGGCCACTGTACCCCAGCCTGGGCAACAGGGCTCACCCTGCCATCTCAAAAAAAAAAAAAAAAAGAAAGATACATTCCCATTTCAGAAATCTGAAAAAAAAAATGCCTCATATATATGAAATATAGCATATCCTTTAATTATCTTCAATTTTGTTTTAACTAAAAAGTGTTCATTCATCTATAACTTACATTCCACTCCAATGTTAAGACTGCCTAGGCAGAACATTTCAATAAGAGCCTCAATTCAGCTTTCTGGGCCATGGTTTTGTTGTTGCTGCTATTGTTTACTTTATTTTATTTTTTCTTTGCATCTACTTTTTAAATTGAGATATACTTAACCATAAAATTCATCCTTTTAACATGTACAGTTCAGTAGTTTTTAGTGTATTCACAAAGTTGTGCAATCAGTATTATCCAGAATACTTTCATTGTATGCAATTGTCTACCTGATCAGCAGGTATTCCACATTAACCCCTCCTAAGGTCTTTGATAAATTTTTGTATATGGAGTGAGGGGTCCAGGTTCATTCTTGCATATGAGTATCCAGTTGTCCCAGGACCCCTCCTGTTTTGTTTGTTTTATTCAATTTATTTGGTCATTCACCAAATATGTTTTGAATACCTACTATGTATTTCTAAGACACTAATATAATCCATAGTTATATCATTTGTGATCCTTACCTAGTTTACAAGGAAAAAAATGTGAGAATTAATGAGAACAAATATATACCAAGATTTCACTAACATTGTTTTTGGGCCATTGTCTACCCTCTTCAGAGAAATATTAAATCCTCCTGTCCTGGCAATTACTATTTTCTTCCTTCAGTCTTTGATGACTTACCTGAGTTCATAATCAGAATGCACCATTGATGATCATTCTGAGTCTTAACTCTGCCTTACTGAGAAAGCAGAGAAGAGAGGGATGGAGGGGCAGTGATTTGAGTTGAATAAGGTGGTAGGTAGTAGGAGAGGATGAAGACCTTGTGAAGAGAGCTATGTAAGAAGATAATAGTAGCAACCCTCTGTCATGATTTTGCATTTGATCTTTCTTAAAACGACACATTTAGGCTTATTCCAAGAAATTGAAGTTTTTTAAACATGAAAATTATAATATTTAATATTCTCAACAGTAAAGTAAGAGCACACTATCACTGCCATGTTTATACACAGGGCATGTTATTTCATGGTGGATGATACGAACAGTTGACCTCAACAACTATTTGTTAGATTAAACGTATATAACCCAGGATTTATTTGAGTTCCTTTTTAATGTATTATTGATTCCTACACGATGACTATCAGCACTGTTTCTGGCTTTACCTGGAATGCCATAAGTACCACCACCAGCCCACACAGATATACATACACACACACACACACACACACTCACATTCATAAACACACTTATTAACTCTTGATAATCTAGCAACAACAGTGTACCTCCTCCAGTCTTCTCTGGCTTCCCCATGCTGCACTAAGAGCCCCAAATCTACTAAAGCATTCCATTCATAATTTACTAATAATAGATTTATTACATCATTTTGCAATCGTTTGTTTACATTTAGTCCCCTATTAAAATATGAGCTGCTTAAGATCAGGAGCTATAATTTATACCTCTTGCTACCTTCAGCAACCCACCACATTGGATATGCTCAATTAATATAAAATTGAATCTATCAATTTTAGAATCTATTTGAAGGGAGAAAAATAAAAATAACCTGTGGTAATTTTTTTCAACTGCCAAACTTATCTGGTACCTGATAGTATAGAAATAAATTGAAATCTCAATTCATGGAGTGAAAAAAGGATCTCTAAAGTCCCATCCAGCTCTAAAATCTGATAATTCTAGAAGTTGGAGCAGATAACTTCCAAAATAAGGTAATTTAATCTAGTTGCATCCTCTTTTCAAAATACAGAAATGTTAGATTCAAAAAGCATATTAAAAATAACTAATGCTTAACCAAGTTTGAAAGAAAGAAGTTTTTTGATGTCAGAAATGAAAAGGACCTGAAAGGCACAGCTTTTAGGCCCGTGGGATACCCAGTATCAATATAAGCCCCAAGAACTCAGGTTTTGGAATACATATAGGAATAGAAGACATAGCTTTGGATCTTATGGGTGGGAGTTCTAATTAAGACCTCTTTATGAAGTGACCGTCTCAAGGAACTCCGCTCCATGAAATGACAAGACATAACTTCCCGCCAAATTAGGGAAGCTACAGAGGAGATTGTCATTGGCCTGGTTATTCTTGATGAAGGAAGAAAAATCTGTTACAGACAGAGTTGTTCAGTGGAAAGTCTGGGGTAAGTTCCTGATTTAGAACAGGCTTTAGTGCACTTTAAAAGGAAAACAATGAATTATATAAAACTTTTAGAGGACACAGTGGTGCCAGATTTTTGTTGGATTCCTGTGCTTTCCTCCTCCAAATAGTTACCAAAAAATATTCCTTTGGGAATTAGTATCAAAAGGATTCTATAGCATCTCAAAAGAATCTTATTCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTCTCAAAAAAGAAAAAAAAAAATCTTATGCAGTAGTCTTATTTAATAAAATCCACTACAAGGAGAGAAGACTGCTGCCTTGACTATATAGAAAGGGTTGGCAGATATTTCATTCTATCAGTTGTAACTAGTAATCCCATTGTTATACATGCTGACCCAAAATATAGCTGTTATTAACCAAATAATGCATTTTTCTTGATAAATGTTGATTAAATCAGATTGGAAGCAAAATGGTAATATTTATGATCAATTTTAGTTTGGATGTTCAATGTCAAGACCAAACCCTCTTCACAGCTACCAACTTCAATTTTATGTGGAAAACTAATGGTGAAGAGTTTCAAACTTTAACTGACACTTGACATTTAACAGGGTATGTAATTGCTCACACACAACCTTTAGGTTTTGTAATCCAGTTTTATCTCATACAATATTAGAAACAGTACACATTGTAAATACCTATTTTAAAAGTTAGCCATATTTTATAAAGTCACATGTATTTATATCTTTTCTGAGTAATTTTCCTGTTAATGCCTTATGATAGGTGCTTGTAACATGAAAACTAAACTTGGATCTTGGCATATTCAGTGTTCTATAGATAGATTGTGATCTGTATAGCTTCTACGGTGACTTTCAGGCCTAATGTCTCCTTTTAAGTTGTTATTCTTTAATATCCTTTCTCATTCCTTTCAGAGGACCTATTATTAGTTTGCATTGTCTGCAGCATTTCAATAATACTGTTCTATTCTAATAATACTGATCTGTTCTAATAAACAGTTCTAAATAC)$ MSGKHYKGPEVSCCIKYFIFGFNVIFW|FAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI* 11CO027 ENSG00000138698.15 ENSG00000251523.1 +/+ +/+ chr4:98293515 chr4:98496525 CDS/splice-site exon/splice-site deletion/read-through 6 4 0 83 16 high out-of-frame . . . . ENSG00000138698.15 ENSG00000251523.1 ENST00000408927.8 ENST00000505408.1 downstream upstream duplicates(1),mismappers(1),mismatches(1) ^(GCTCGTCCCCGCCGCGGCCGCGCCGCCTGCAGCAGCACCAGCTGCTCCTCCCCGGCGGCCGCCCCCCGCGGGTCCCTCCCTGGCTGCGGGAGAGACGGAGGTAGAGGGAGGA)CACAGAGCCGCGCCGCCCGCACCACAGACCTTCGCCTCGCCCCGCCGGTTCCTCACCCTCGGGGAGCAACATGG___ATAATCTCAGTGATACCTTGAAGAAGCTGAAGATAACAGCTGTTGACAAGACTGAGGATAGTTTAGAAGGATGCTTGGATTGTCTGCTTCAAGCCCTGGCTCAAAATA|ATTAAAAAGTGGCCATGACCTGCCTTTGAGGAGAAGAGGAGAAGGAGGGGTAGTCATCTTTTAGGTCTCCATACAATCCTGCAATCAAGTAGCTGCTGGGGAGGCCAGCGGTACCAAGTTCCATCAGGTGGCACTGCTCACAGGCAGGGAAACTACCATCTCTACACACTCTG(___GCAACAGAAACTGGCCTGTACTGCTATGACATTCCTGAATCAATGAATCTCACTGAATTTTCCTTCCTCGGCAAATAGGGAAAGGTTTTCCAAG___GTGCTGGGCAAAAGAGAACGACCACTGACAAGTGAGTGTACAGGCTCCCATGAGACCTAGGAAGCACAGAAGCACAGAGTTAAGGCTTTGACTTCAACCCATTGACATCAAACACAACCCAGTGAAATGGCTGA)$ MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQN|n* 11CO027 ENSG00000138780.15 ENSG00000200963.1(76693),ENSG00000241722.2(143643) +/+ ./- chr4:105729499 chr4:111408211 CDS/splice-site intergenic inversion 6 1 1 31 22 high out-of-frame . . . . ENSG00000138780.15 . ENST00000394730.7 . downstream downstream duplicates(2),mismatches(1) ^(GTTACTTCCCTTTTTCCGGTCCGCCGGATTATGAATGACGGCCGGCGCGAGTATTTTCCACATAAGGTGGCTGTCGTTTTTCTCCTGGCGTCTGTGGAGGCGAGTGGTCTGCGGGCAGCAGCTCCCAGAGGCAGCCTTGGAATTCCAGCTCGGACTGGGCGGGAAGGCGCAGGCGGCCCAGGTCGCCGACACGCTCACGCACCCTCCCTGCCTGGCCGCGCCTCTGCGACCAG___GTGACCCAATGAAAGAAGAAAATGAAAGCCATAAAGAAAAGTCTTACAGAAGAAGAATACCTGTACCTGGACTTTTCTCACCAAACAGAAGGATGCATCTTTCCTCTTCATACATCTGTAACTTTATTTCTGTTATCTTACTGTGACTGTAAAATCTTTAAAATTTGCTTAGTTGTCACCAAAGAG___GTTAGTCAGTGGACCAGGCTATGTGAACTCACCATCCCTTTGGCTATTGAGAATTTTCTCAGAGAATCTTCTGACCAGCCCCCAACTATACCTGTAGAAATACTACAGCTAGAGAAAAAGCTTAGTGAGCCTGTTAGAGTGCATAATGATGATAAACTCCGCAGGCAGAAGCTCAAGCAACAGAAGGCTGATGGAGTTGGGCCTCCCCTTACTAAGGGAAAGGCAAAGAGCAAGGTCCACACACAGGAAACATCTGAAGGGTTGGATTCTTCATCCAAGAGTCTGGAACTGAAAGTGGCATTCTCAAAGCTCACAGTACAGGAAGAACCAGCTACTACCAACAGAGAGCCTTCTCACATCAGAAAAGCAAAAGCCTCCGACCTTCCACCTCTGGAGCATGTGTTTGCAGAAGGGCTTTACTTCACTCTGGCAGATATTGTGCTCTTGCCCTGTATCCATCATTTCTTG___GTAATTATCAGCAGGAAATTTTCTGAGAAGCTGGTAGAATTTCCATTGCTAGCCTCTTGGTACCAGAGGATTCAGGAAGTGCCAGGAGTAA)AAACAGCAGCTTCTAAGTGaGGGATCCAATTTCTCCATTTACCAAAGTTGTTGACAACCTCAACTGAACAGCATCCAAACTTATGTGAAGTCCCAGGTGTAGAAGAGCAAAGCGATCCTTTATTTATAGGAGGACCAAGACCAACCATGGCCAAGTTAATG___GAAAAGGGCATTGAAGTGATGTTTTCTCCCCACCCTTGCCCTACTTGGACTCTTGATTGGAATGTTCTCCCTGCAGCAGTCAGCCCAAAGGAAG|AAGACAGCCATGTGAAGATAGAGACACACAGAAAGAACGTCATGTCATAATGAAGATGAAGCTTGTAGTTATGCAGCTGAAAGCTAAGCAATGCCAAGGAAGCTAGGAAGAAGCAAGAAAGGATTTCTCTACAGATTTCAGAGGACGCAGGACCCTGCCAACACCTTGATCACA MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSQWTRLCELTIPLAIENFLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELKVAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQRIQEVPGVKTAASK*GIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTLDWNVLPAAVSPKE|edshvkiethrknvms* 11CO027 ENSG00000184903.10 ENSG00000226965.2 -/- -/- chr7:110963500 chr7:110432906 CDS/splice-site exon/splice-site deletion 4 2 0 60 14 high out-of-frame . Peptidase_S24-like(100%)| . . ENSG00000184903.10 ENSG00000226965.2 ENST00000405709.7 ENST00000667232.1 upstream downstream mismappers(1) ^(GACTTCCCCCGGGCTGAGCTGCGCAGCGGGTGCGGAGGGCGGGCGCCCGGCGTCCGGCGGCGGGTGGGGGGCTGTGAGGCTGGCAGGGGTCGGCGGGCGCGTAGCCGCCGACCCTTGGTGGTCTCTTGGGCTGGGGACCCTTCCCTGGGAGTCGGCCCCGGCCCCGGCGGGGCGGGCGTTGCCGGGAGGCGGAGGGGTGCGCGGCCGCGAGTCCTGCGTGATCGCGAGCATGTGTGCGTGCGCGTGTTTATCTGAGGCGCGTGCGGCGGCCACCCCAGCCTAGTCCTCTTCTTGGTGCCACTGGCTAACTAGGTTGAGAAACCGGCGCCACAGGCGGCACACCTGGCCCGGAGCTGGCCCGCTCCTCCCCGCCGAGCCGGCGCCCCAACAACGCGCCCTCTCCCAGTCCTCACAAAGGGGCCTAGTCCGGCCCCCGGCTCTGGCCGTGAGGGAGCGCTGTGGGGGCGCGCTGCCTTCTGCCTGGAAGTGTTGGGCAGGTGGTGGGAGAGCGTCAGGCTTGAACAACATGATTTTAAAGCACGTGTCTGTCTGTCGTTTTTTACTTTTAGGGTTTTGGCCAAATTGGGCGAGGGCACAAAATAACCACTTACCCCTTCTCACCGAGGAAGAGCGGGAGAAAGG___GTATGG)CACAGTCACAAGGGTGGGTGAAAAGATACATCAAGGCCTTTTGTAAAGGCTTCTTTGTGGCGGTGCCTGTGGCAGTGACTTTCTTGGATCGGGTCGCCTGTcTGGCAAGAGTAGAAGGAGCATCGATGCAG___CCTTCTTTGAATCCTGGGGGGAGCCAGTCATCTGATGTGGTGCTTTTGAACCACTGGAAAGTGAGGAATTTTGAAGTACACCGTGGTGACATTGTATCATTGGT___GTCTCCTAAAAACCCAGAACAGAAGATCATTAAGAGAGTGATTGCTCTTGAAGGAGATATTGTCAG|GAATTCCTGTGAGCATTCCTCTTCAAGATGGAAGAAAAAGGGAATATTTCACAgCCCCAATGGTGAAACGTCTGCCTATAGCCAACAATACAATCT MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVAClARVEGASMQPSLNPGGSQSSDVVLLNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVr|nscehsssrwkkkgifhspngetsaysqqyn 11CO027 ENSG00000138780.15 ENSG00000200963.1(86729),ENSG00000241722.2(133607) +/+ ./- chr4:105729499 chr4:111418247 CDS/splice-site intergenic inversion 4 1 0 31 7 high out-of-frame . . . . ENSG00000138780.15 . ENST00000394730.7 . downstream downstream . ^(GTTACTTCCCTTTTTCCGGTCCGCCGGATTATGAATGACGGCCGGCGCGAGTATTTTCCACATAAGGTGGCTGTCGTTTTTCTCCTGGCGTCTGTGGAGGCGAGTGGTCTGCGGGCAGCAGCTCCCAGAGGCAGCCTTGGAATTCCAGCTCGGACTGGGCGGGAAGGCGCAGGCGGCCCAGGTCGCCGACACGCTCACGCACCCTCCCTGCCTGGCCGCGCCTCTGCGACCAG___GTGACCCAATGAAAGAAGAAAATGAAAGCCATAAAGAAAAGTCTTACAGAAGAAGAATACCTGTACCTGGACTTTTCTCACCAAACAGAAGGATGCATCTTTCCTCTTCATACATCTGTAACTTTATTTCTGTTATCTTACTGTGACTGTAAAATCTTTAAAATTTGCTTAGTTGTCACCAAAGAG___GTTAGTCAGTGGACCAGGCTATGTGAACTCACCATCCCTTTGGCTATTGAGAATTTTCTCAGAGAATCTTCTGACCAGCCCCCAACTATACCTGTAGAAATACTACAGCTAGAGAAAAAGCTTAGTGAGCCTGTTAGAGTGCATAATGATGATAAACTCCGCAGGCAGAAGCTCAAGCAACAGAAGGCTGATGGAGTTGGGCCTCCCCTTACTAAGGGAAAGGCAAAGAGCAAGGTCCACACACAGGAAACATCTGAAGGGTTGGATTCTTCATCCAAGAGTCTGGAACTGAAAGTGGCATTCTCAAAGCTCACAGTACAGGAAGAACCAGCTACTACCAACAGAGAGCCTTCTCACATCAGAAAAGCAAAAGCCTCCGACCTTCCACCTCTGGAGCATGTGTTTGCAGAAGGGCTTTACTTCACTCTGGCAGATATTGTGCTCTTGCCCTGTATCCATCATTTCTTG___GTAATTATCAGCAGGAAATTTTCTGAGAAGCTGGTAGAATTTCCATTGCTAGCCTCTTGGTACCAGAGGATTCAGGAAGTGCCAGGAGTAAAAACAGCAGCTTCTAAGTGTGGGATCCAATTTCTCCATTTACCAAAGTTGTTGACAACCTCAACTGAACAGCATC)CAAACTTATGTGAAGTCCCAGGTGTAGAAGAGCAAAGCGATCCTTTATTTATAGGAGGACCAAGACCAACCATGGCCAAGTTAATG___GAAAAGGGCATTGAAGTGATGTTTTCTCCCCACCCTTGCCCTACTTGGACTCTTGATTGGAATGTTCTCCCTGCAGCAGTCAGCCCAAAGGAAG|GATGGAGAGCAACTGGAATTCTCAAACATCATGAAGGAAATATAAAATGATACAACCACTTTGGAAAAAG___AAGACAGCCATGTGAAGATAGAGACACACAGAAAGAACGTCATGTCATAATGAAGATGAAGCTTGTAGTTATGCAGCTGAAAGCTAAGCAATGCCAAGGAAGCTAGGAAGAAGCAAG MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSQWTRLCELTIPLAIENFLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELKVAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQRIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTLDWNVLPAAVSPKE|gwratgilkhhegnik* 11CO027 ENSG00000124782.20 ENSG00000216863.10 +/+ -/+ chr6:7182082 chr6:6475563 CDS/splice-site intron duplication/5'-5' 1 2 0 17 4 high out-of-frame . . . . ENSG00000124782.20 ENSG00000216863.10 ENST00000379938.7 . downstream upstream mismatches(1) ^(ATTCCTTTTCCGGAACAAGTTTGCATCTCTCCTCGGTCTCTCCCTGAAGCCCACCGGTCCCCAACGCATCATGCCAGGGAGCCAAGCGTCCTGCCCGGCC___GTTGCTCCGACTGTGTGTTCCAGGAGTGGTGGCTCTGAGGTGTGACCCTGCCCACGTTTGGGCCCAGCCAGGTTCAGCCCCCCAATAAGGAGGGCAGCTTGATAACACAAAGAAAACAG___TGTCAACGAGTACTACCAAGAGAAGAAGACAAGAGGTCAACACAGACTCATTTTCTACTCCGTGTGAATGATAGCTACAGCAGGGGAAAGTTTCATAGTCTATCAGTGGGTCAGAAAATGGAG___TTTTATAGCAGAGGCTTCTTAGAAGCTTAAACCCCTGTCCCAATGACGTCAAGTTCGCCCGCTGG)CTTGGAAGGTTCAGACCTATCTTCCATCAACACCATGATGTCGGCGGTCATGAGTGTAGGGAAGGTCACAGAGAATGGCGGGAGCCCCCAGGGGATCAAGTCCCCCTCGAAGCCTCCAGGACCAAATCGGATTGGCAGAAGGAACCAG|GCCTGGAGACTAGAGGTCAGAAATCAAGGTGCAGTGGGCCCATACATACTTCCACTGAAGGCTCTAAGAATCCTTCCTTGCCTCCTCCAGCTGCTGGTGGCCACAGGCGTTCCTCAGGCTGTGGAAACATAACTGCAGTCTCTGCCTCCATCTTCATAGGGCCTTCTCCTCTGTCTCTGTG MTSSSPAGLEGSDLSSINTMMSAVMSVGKVTENGGSPQGIKSPSKPPGPNRIGRRNQ|awrlevrnqgavgpyilplkalrilpcllqllvatgvpqavet* 11CO027 ENSG00000103335.22 ENSG00000051523.11 -/- -/- chr16:88784901 chr16:88648114 CDS/splice-site CDS/splice-site deletion/read-through 3 16 1 107 624 medium in-frame . . . . ENSG00000103335.22 ENSG00000051523.11 ENST00000301015.14 ENST00000261623.8 upstream downstream duplicates(2),low_entropy(16) ^(GGGAGCCGCCGTCCGGCCCAGCTCGGCCCCAGTGAGCCGAGCGCTGCGCTCCGCCGAGGGGCAGGGCGGTCGCCTGAGCGAGCGCGGGCCCGGGACGTCGGCACCGGCGGGGCGGCCGAAGGAGAAGGAGGAAGAGGAGAAGGCGGCGCGCGGGTCCCCGCGGGTCA)GCCATGGCGCGCCGGCCCCGGGGCCCCCGCACCGCCCCATAGCGCCGCGGCGTCCGCTCGGTCTGGGCCGGGCCCTGGGCCCTCCAGCCATGGAGCCGCACGTGCTCGGCGCGGTCCTGTACTGGCTGCTGCTGCCCTGCGCGCTGCTGGCTG|TCCTCATCACCGGGGGCATCGTGGCCACAGCTGGGCGCTTCACCCAGTGGTACTTTGGTGCCTACTCCAT___TGTGGCGGGCGTGTTTGTGTGCCTGCTGGAGTACCCCCGGGGGAAGAGGAAGAAGGGCTCCACCATGGAGCGCTG___GGGACAGAAGcACATGACCGCCGTGGTGAAGCTGTTCGGGCCCTTTACCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCT___GCTCTCGGTGCCCGCCGGCTTCCTGCTGGCCACCATCCTTGGG(ACCGCCTGCCTGGCCATTGCGAGCGGCATCTACCTACTG___GCGGCTGTGCGTGGCGAGCAGTGGACGCCCATCGAGCCCAAGCCCCGGGAGCGGCCGCAGATCGGAGGCACCATCAAGCAGCCGCCCAGCAACCCCCCGCCGCGGCCCCCGGCCGAGGCCCGCAAGAAGCCCAGCGAGGAGGAGGCTGCGGTGGCGGCGGGGGGACCCCCGGGAGGTCCCCAGGTCAACCCCATCCCGGTGACCGACGAGGTCGTGTGACCTCGCCCCGGACCTGCCCTCCCGCCAGGTGCACCCACCTGCAATAAATGCAGCGAAGCCGGGA)$ MEPHVLGAVLYWLLLPCALLA|vLITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKhMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV* 11CO027 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 5 0 314 52 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGA)ACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO027 ENSG00000138780.15 ENSG00000200963.1(138730),ENSG00000241722.2(81606) +/+ ./- chr4:105729499 chr4:111470248 CDS/splice-site intergenic inversion 1 1 0 31 3 medium out-of-frame . . . . ENSG00000138780.15 . ENST00000394730.7 . downstream downstream . ^(GTTACTTCCCTTTTTCCGGTCCGCCGGATTATGAATGACGGCCGGCGCGAGTATTTTCCACATAAGGTGGCTGTCGTTTTTCTCCTGGCGTCTGTGGAGGCGAGTGGTCTGCGGGCAGCAGCTCCCAGAGGCAGCCTTGGAATTCCAGCTCGGACTGGGCGGGAAGGCGCAGGCGGCCCAGGTCGCCGACACGCTCACGCACCCTCCCTGCCTGGCCGCGCCTCTGCGACCAG___GTGACCCAATGAAAGAAGAAAATGAAAGCCATAAAGAAAAGTCTTACAGAAGAAGAATACCTGTACCTGGACTTTTCTCACCAAACAGAAGGATGCATCTTTCCTCTTCATACATCTGTAACTTTATTTCTGTTATCTTACTGTGACTGTAAAATCTTTAAAATTTGCTTAGTTGTCACCAAAGAG___GTTAGTCAGTGGACCAGGCTATGTGAACTCACCATCCCTTTGGCTATTGAGAATTTTCTCAGAGAATCTTCTGACCAGCCCCCAACTATACCTGTAGAAATACTACAGCTAGAGAAAAAGCTTAGTGAGCCTGTTAGAGTGCATAATGATGATAAACTCCGCAGGCAGAAGCTCAAGCAACAGAAGGCTGATGGAGTTGGGCCTCCCCTTACTAAGGGAAAGGCAAAGAGCAAGGTCCACACACAGGAAACATCTGAAGGGTTGGATTCTTCATCCAAGAGTCTGGAACTGAAAGTGGCATTCTCAAAGCTCACAGTACAGGAAGAACCAGCTACTACCAACAGAGAGCCTTCTCACATCAGAAAAGCAAAAGCCTCCGACCTTCCACCTCTGGAGCATGTGTTTGCAGAAGGGCTTTACTTCACTCTGGCAGATATTGTGCTCTTGCCCTGTATCCATCATTTCTTG___GTAATTATCAGCAGGAAATTTTCTGAGAAGCTGGTAGAATTTCCATTGCTAGCCTCTTGGTACCAGAGGATTCAGGAAGTGCCAGGAGTAAAAACAGCAGCTTCTAAGTGTGGGATCCAATTTCTCCATTTACCAAAGTTGTTGACAACCTCAACTGAACAGCATCCAAACTTATGTGAAGTCCCAGGTGTAGAAGAGCAAAGCGATCCTTTATTTATAGGAGGACCAAGACCAACCATGGCCAAGTTAATG___GAAAAGGGCATTGAAGTGATGTTTTCTCCCCACCCTTGC)CCTACTTGGACTCTTGATTGGAATGTTCTCCCTGCAGCAGTCAGCCCAAAGGAAG|TGCACACACCTATTCAGAAGTATAATGTCTTCCATATGACTCAGGATATAACCTTCCAGGTTCTATCATCCTGTCATTTCTCCTTTCAATTCAGTATGCAATATGCCTCCACCAGAACATAACGG MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSQWTRLCELTIPLAIENFLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELKVAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQRIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTLDWNVLPAAVSPKE|vhtpiqkynvfhmtqditfqvlsschfsfqfsmqyastrt* 11CO030 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 27 25 0 61 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(1),low_entropy(3),mismappers(1),mismatches(1) CCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO030 ENSG00000103111.15 ENSG00000279856.1(65533),ENSG00000103111.15(20360) +/+ ./+ chr16:77191633 chr16:77170830 CDS/splice-site intergenic duplication 11 14 3 98 30 high out-of-frame . Trafficking_protein_Mon1(100%)| . . ENSG00000103111.15 . ENST00000248248.8 . downstream upstream duplicates(2) ^AAGTGTGATGCCACCGCCGCTACGGGGAAGTAATGGTATCCGGCCAATTGAGATTCGGAGTTAAAACAG___GGATGTGCAGATGGAGGTCGGAGGAGACACTGCTGCCCCGGCCCCCGGGGGCGCGGAGGACTTGGAGGACACGCAGTTCCCCAGTGAGGAAGCTAGAGAAGGTGGAGGGGTTCACGCGGTCCCGCCGGATCCCGAAGACGAGGGCCTGGAGGAAACAG|GGATGCTGAGCTGCTGCAGGAAGCTCTTGAACATCAAGTTATGCCAGCAGAAAAAGACATCAGATTGGAAGAATGTGGGTGATGTTTTGCCTGTGGAGGGGGTGGAGGATAGCCTTGGATCCCTTGAAGCCCCTAGGACATGGGTTTAGCCACCCCATGGCACTACAGAGGGTCACGTGAcCTGGAGCTAGCAG...___GCAGATGAGCTGGTCTCAGAAATACTCAAGTCTCAAAATCTTTGGAACATATGCTTCCATATCAG___CAATTTTCAAGTTTGCCATACTTCTACCCAAAGATTCCACTGGCTTCCTGCCACCATCC MEVGGDTAAPAPGGAEDLEDTQFPSEEAREGGGVHAVPPDPEDEGLEET|gmlsccrkllniklcqqkktsdwknvgdvlpvegvedslgsleaprtwv* 11CO030 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 7 0 140 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 . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAA)ATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO030 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 16 0 54 34 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* 11CO030 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 6 0 26 17 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . AAAACAGTGGGAGAAGATATAACCGGATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGcCCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGG...CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCC(AGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO030 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 18 71 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTC(TCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO030 ENSG00000178307.10 ENSG00000185053.14 -/- -/- chr17:21214091 chr8:14164702 CDS/splice-site CDS/splice-site translocation 4 6 0 46 15 high out-of-frame . |Sarcoglycan_complex_subunit_protein(100%) . . ENSG00000178307.10 ENSG00000185053.14 ENST00000317635.6 ENST00000382080.6 upstream downstream . ^GTCTCCAAGATGGCCGCTTGGGGAAGGAGGCGTCTTGGCCCGGGCAGCAGTGGCGGCAGCGCCCGAGAGAG|GAGCTGATGCTGTGGAAGCTCAGTGTAAAAGATTTGAAGTGAGAGCCAGTGAAGATGGCAGGGTGCTGTTTTCTGCAGATGAAGATGAGATTACCATTGGGGCTGAAAAGCTGAAAGTTACAG___GCACTGAAGGAGCCGTATTTGGGCACTCTGTGGAGACGCCGCACATCAGAGCAGAGCCATCCCAAGATCTCAG___GCTTGAATCACCCACCAGATCCTTGATCATGGAAGCTCCCCGTGGGGTCCAGGTGAGTGCTGCTGCAGG(AGACTTCAAGGCCACCTGCAGGAAGGAGCTCCATCTGCAATCTACAGAAGGGGAG___ATATTTTTAAATGCAGAGACAATCAAGCTGGGAAATCTACCAACTGGCTCCTTCTCATCTTCTTCACCCAGCTCCTCAAGTTCTCGACAGACAGTGTATGAACTCTGCGTCTGCCCCAATGGCAAACTTTACCTTTCTCCAGCAGGAGTAGGTTCCACTTGTCAGTCCAGTAGCAACATCTGCCTGTGGAGCTGAAGTGACTGATTTCTCCTCACACCAGAATAGCCTTTTGTTCCTGTCCGTCTGCTTCACAGTTCTGCTCGGTTTCCCTTGTGATCAGTCCAGAGCTTCTTCGAATGGTCCACAGAGCAACTTCCAGTGTGAGCAGGGATTCGCCACCACCTTCTCTTGTGATTTACTGTACTGCTCAACACAGAGGGTGTGATTGACACAGCAGTGGAAAAAGCGTCGTCAGCAGGAAAACTGGATCATGACTTTTGCTCGAAAGGGAGAATAACATAGGTGCCTTTGCTACGCGAAGTGAAGCACACAGTTTTAGATTTTTGCAGGACCTGGATATGAACTGCACATATATACATTACATAAATGAAATTCCCAGTATCCAATGGCAAGATGAAATGGTTAACCCTGTAAGAAAACTTATTCTACATTCTGAAAGCACAATTTTCCATTCATCTTTTTGGATGTAAACTTTTATCCCCGACTTTTAAAATTTTAAAGCATTATGTAATGCTTGCTTTACTAAAATTTAAATTCAATACATGGTTTTTAACAAAACAGAACAAAACAAAACAATACAGAATCTCTCCCTGAGTTTTCCTTCTGTTTCTTTAATTTCAATGTGCTGTTACTCTTTGTCTACTAAGTCTAGAATTTTGTACATCAGGTAATTTTGAAAGCACTCAGCAATATATCCTTTACAGAATTAACAAAATGCCATTATAATGTCATTGGTCAGATCTGGATGGCCTTATATAGTATTTACATGGCTACTGCATGTGACGTATTTGCTTTTAACAAAACATCTACTCTATTGCAATATAAGACAGGATTAAGAAGGATATGTTGATGGTATTAAATCCATAGATGATTTTTAAAAAATTCACATGCTATCCTTTACACCTAGGTTTTAATAGTATAATTTTTGTTTGCTCCACTCACTCTGCACTTGATTCTGACTGCTAAAATTCAAACATCTTCTAAATAAATAATACTAATATGATGCATAATGCTGAGAATAAATTCTCTTTCCATTGGGGTATCATCTTCAGAATTATTCTCCATCTATTTTTTATTGGAGGTTAAGATTTAAAGAAGTCAGAAGCTAACTAAAATTTCTTGACTAAACAGTAAAAATGACAAATGCTAATAAATATTGAAAATGTGTTTACTTCACTACATTCATATTTTAGGGAATTTAGTCCCATTTCTATTCAGCTGTTAACATATATTTACTTTTATTAGATCGTTGTTAGGCTACCCTGACCTCAAAAATTATAGTTCTTTTCATTTTCCAATGCTTATTTTTGTATATGACCTCTTAGTAAACAACTCCAGAATACTGAATATTCATTTATCACAGCACCCCTTAACTCAAACTCTTGAAACTTACAGAGTCAAAGAATGTAAAACTGTATTAAGTATTTCCTATTATGGGAAGATGACTTAATTACTATAAGGTAAGTCCTGAATTTTCACATGTCAATCAAACGTTTTTCTCCCTCATGCACACTATCAACATTTGTGTTGAAACTTCCTTTTGGGGATTAATGGCTGTAGAGTCTTTGGAGTTCAGGTGTCTACAGCTCAGAGTGAACTGGGAGATTAGAACTTGTTGCAAAAGATGTGGTTAGTGAAAGTAGAAATATTGGCAATGCAAGAAGAAAAGTGAAATATTTGACCAGAATTATCTTGTTTGCATAACCTAGCATATCAAATAACTGAAAAAGCTCATTTCCACTGTACTCAGCAGAAGGGTTCAAAGGCTAATTTATTACTGTTAAAATAAAATGTGATTATATTTGGGTGTTATTATATAACTTTTTAAATCAATATTGAAATAAGAATTTATGATATACGATTGCTTACAAAGTTATAACACAAGAGTTTAATTTATATTAAAATAAGAGAATTTAATATAAGAAATCTCACATTGGTCTTTGCAAAATAAAGTATAATACAAGAAATATTGAGAAATTATGTGTGCTAATCACTATATTATGGACTTTTAAGGAAAACATTATGTAGTAATTTAATTTAAGACATATTCAAGTTCTAATCATCCTTCCATTAAAACAATTAGAAACTTTCTAAGTCAAATGGGAATAATTCTTTTGATTAGGAACTGGCCCTGTTTCTAATCTCAGCTGTCTTCTACTAATCAATTGAGCTGTTTTAGGCAGTTCGAGAATCTCTCCAGGCTTCAGTTTACTCAACTTCACAGCAAAAGTATTGAATAAAATAGTCTCTTGGGGTTCCTTTCTGTTCCAACATGTTCTAATTTCAAGTTCTAATTCAAGTTCTAATTTCAAAATTACAAAAGGCAAAAGAGAAAAATGAAATTTTAAATTATATGTCATAAGAGGAGAAAAGATGAAAAAAAAAGTGAGAAAAAAAGATGTAAAAACCGATTCCAGTGAGGGACTGACACATTTTTAATTCAAATGCATTCTGAGAAGTATAGACATAATTCAAAAGTAACTTACAAGCTTGAGAGCTTTAGACTGTATCCAGATGATATAACAAATCGGTTCAGTACAGTAGAAAATATAGTGATAGCGATGGCTTTCCTATTCAACACCAAATAATTGCTTTAAGTTATCTGACTAGCTGTTTCAGATTTCTGAATCTAAGCCAAGATCCCTGCCTCAGAGAGATCAAGCCTATTGTGAAGGCTTAGAAGAATGGCCCCAAATGTCCTCGTTTTCCACATTCAAACACAAAAAAGCATTTTTTTTTTTTTAAAAATATAGTGGTCCCTTAATTGCACAGTACCCTAACAGATTATGTTTTCCCAGTACCATCTTTATGTTACAATATGTATAAATAAAATGCAGTTTACTTATATAAATTTCATCTTCCCCAAATGACACTGAGAAAAATGAGTCCTTTATAGTGTACTACATGGATGCGACTAAGCTATCTTATTACCCGTATCTTAATAACTTCATACTCAGTGTACGCCAGGAAGGAACAAACGGAAGAAGAAAAAGAGGTTGGTAGTTTTGCTAGCATTTAAGTTATTTGCCAGGAATGGATAAACCGAGATGTATCTGAATTCAGGTTTGGGGGATCACAAAAGGAAAGATGCAAAGAGGACACATTATTCTTTTCTTTTTCAGAAGATTTCAATTAAATACTTCAAAAAAAAACAGCAAGAACAACAAAAACTTCCAAATTTCCTACTTCCCTTGTTCAACATTTCCAAAATTTCTATCCGGTACTTACTTATTAGTCATACACACACATACACACATTTATGTCTAAAATATATATATTTTATTGTGAATGATATGTTTTATAATTTGGCACATAATTATTTATCTAAGAGTTTAAGACAATTATACACCTCAAATTTTACTGTAACTTAGGAATCTTAGATTACAGTACTTCAAATCTCGGAAAATGGAGCCAGCAATTCCAGTTCTAGTTCTGCCCCTGGCTAGTCATGTGAACTTACCTACTTAAGACATATATTTAATTACGTTGGTCACAGTTCACTTATCTGTGAGAGGGGTATATCAAACTAGACATTTCCTTTAGTCACATTCATTTTTAAGTTTTTCTGATTCAGTTAAGGAAGCACTCATAAATCTTAGGTTAAGTAGCCATATCTGAACTAGCATTTGTGATCTCCTTCTGCACCTTAAAAAGCTGCTTATAAAAGTTGAAATACAAACCTTTTTGGCACGCTACTTCCTATGCTCTTTTTTATACTCCCTTTTACACTCTTAACATTTGAACATTAAGGTTCCTTTGGAAAAATCATGCCTGGTTAACAGGATTCAGTAATATGGTTGACGTTAAAAAGGAAAATAATGCATTTGGATCTTATTCAAAATGACTGTTTAGGAAATTAATAGAAATATTAACCAAATATGAACATTCTGTGATTATTACCTCCATAAAGCTAAAAAGCAGTGATCTTTTGAAGAAATGATAATGTGATCACAGAGGTTAATTGCTGAACTGTTTTATTCCATTCAAAATTCCTACATATTCTATCGAATGACTCAATCAGAGAATGCCTCGTTTTACAAAAATAGCATTTGATACAATAAAACTCCTAATAAATTATTTCATTGCAAACATGGTATCTCTGTATGAGGCAGCAATAGCCTGGAGAGCGTCTAATGCATATGAGTGTTATATTTCATAGCAGAGAATGTCAACATAATAATGTTAAATTATTAAAATCATTGAAAGTATTTAATAGCCAAATTTTCTATAAAATCCTCAAAGCCAAATTCATATTTGAGTTTTATATGAGTGAGGTCTTGTCACCTAATTCTTCAAATAGCTGTGGTCTAATAAGAGTTGTTCATGTGATCATATTTAATGACATATGGAGAAATTATTTGCTCTATGTACTGGTGTATATTACAGTAATGAACACTACAAAATATCATTATCACAAAGGAAATTTGCATTTGTATTCATTTTAAATAATCATAAACTAATCAATAATTTAATTGAACACTGTTATTCATGTTGTTTTATACTGAAATTTATTAGTTGTTTAAATGTCAAAGACCAAAGAATGGGATTTCTATTGTATTTAACTCTAAAACACTGCTGCTCCTACTAATTTATTCAAATGAATAGGGGGGCTTATAATTATAACATGAGGTAGTAAACATCCTTCTTGGAGGATCCTGAGTTGTATAAATTAAGGAATGCTTTTGTTTCAGAAGGGAAACATCATTAGTGTGGTCCACTTTTCTTTTATACATGCATAACAAACTCCTTGGTATTCATAAAACCTATATGCAAAGACCGTATCCCAAAATGGGCCCAGCATGGATCTCCTCAGCTGAGTTTCAACTTTCACTGCTTGCTGAACACTATTTGGAGAATAAAATTTGAAATACTTGTAGAACCAGAGGGCTATTTTTTAATTGTTAACTGAGGTGGCTCTGCATTTTGAGAAAGCCAATGAAAACCATTAAAGGAAATGAGATATAATGAACTGTAGTTATTTTTTGTTTTTTTCAGTCTTAGTATCTCATTTGTTTGCGTATTTATAAATAAAAACCAAACAGGGTTAAAGATGGGCAAGGACATTCATTAACAATGGAGATATGTAATCTGGAGTTTGAGTGTCTCGTTATTTATACAATTCTTTAAATCAGGTCCACTATTCATTTATTTTGTTTTGTACTTTCATGTAAATGTTTTCTTGTATATATAGATATATGAAAAATGGAACTATTTTCTTACACATACTATGCAACATGTTTGTAAAATTGCAATATTACCAAAATTACAAAAGCTGTGCTTTTGTACTCTATCTTGCTTTATGTAAAATCACTTTTTCTATTTAAATGGACTGTCTGCCCTATAAACTGTAGATAACATATCTATTCAAAAATCAGTCTATTGTATCTTTTGTTTAGATGGAACTTAATTGGGGTATATTTTGGGGGAGAGAAAATGCAGCAAAGTTTTGGCAATTGGAAACCTTTTTTTCTCTGAAATGAGACCTTTTGAAGCATGCAATGAGCTCATATAATTTAAGATCTCTCCTGTGATTCTTGTAATTTGTCCTAATTTTGGTGCTACTATGTAACCATGATTAAATGTGATAGTCAAAACAAAGAGGATAAAAACTTA)$ MAAWGRRRLGPGSSGGSAREr|s* 11CO030 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 2 8 0 15 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAG(CTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO030 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 12 3 0 658 21 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTA)CTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCT?TGTACCTCAAGTTTCTTC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 11CO030 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 5 5 0 483 14 medium out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(2),mismappers(2) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCT)CCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTgAAAATACAAAATTAGCCAGGC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO030 ENSG00000204959.4 ENSG00000198420.10 -/- -/- chr7:144272445 chr7:143863796 exon CDS/splice-site deletion 2 0 0 82 51 medium . . |Peptidase_M60__enhancin_and_enhancin-like(100%) . . ENSG00000204959.4 ENSG00000198420.10 ENST00000483587.1 ENST00000479870.6 upstream downstream . ^(ATGGAGGCTGAGGAGGCCCAGCGTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTAAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAGGACCCATCCTATAAGTGGAGAGAGGAACACAGACTCTCAGCAACTCAGCAGAGTGAGTTAAGGGATGTGTGTGACTATGCGATTGAGACGATGCCCTCTTTTCCCAAGGAAGGTTCTGCAGATGTGGAGCCCAATCAGGAAAGCCTTGTGGCTGAGGCCTGTGACACTCCGGAACACTGGGAGGCAGTACCCCAGAGCCTAGCAGGCCGACAAGCAAGGACTCTAGCTCCCCCAGAGCTCTGGGCCTGCCCCATTCAGAGTGAGCATCTAGACATGGCCCCATTTTCCAGTGACCTGGGAGGCGAAGAAGAGGAGGTGGAATTTTGGCCAGGACTTACTTCTTTGACATTGGGATCTGGACAGGCAGAAGAAGAAGAGGAAACCTCTTCAGATAACTCTGGTCAGACCAGATATTATTCTCCCTGCGAAGAGCATCCTGCAGAGACCAACCAGAATGAAGGCGCTGAAAGTGGGACTATCAGGCAGGGGGAAGAGCTGCCATCTGAGGAGCTGCAGGAAAGTCAAGGGCTCTTGCATCCCCAGGAGGTCCAAGTTCTGGAGGAGCAGGGACAGCAGGAAGCAGGATTTCGGGGGGAAGGAACTCTGAGGGAGGATGTTTGTGCCGATGGGCTATTAGGGGAGGAACAGATGATAGAGCAGGTTAATGATGAAAAAGGAGAACAGAAGCAAAAACAGGAACAGGTACAAGATGTGATGCTTGGGAGACAAGGAGAAAGAATGGGGCTCACTGGGGAGCCAGAGGGTCTGAATGACGGTGAGTGGGAGCAGGAGGATATGGAGAGGAAGGCTCAGGGTCAGGGAGGTCCAGAACAGGGAGAAGAGAGGAAGAGGGAGCTGCAGGTGCCAGAAGAGAACAGGGCGGACTCTCAGGACGAAAAGAGTCAAACCTTTTTGGGAAAATCAGAGGAAGTAACTGGAAAGCAAGAAGATCATGGTATAAAGGAGAAAGGGGTGCCAGTCAGCGGGCAGGAGGCGAAAGAGCCAGAGAGTTGGGATGGGGGCAGGCTGGGGGCAGTGGGAAGAGCGAGGAGCAGGGAAGAGGAGAATGAGCATCATGGGCCTTCAATGCCCGCTCTGATAGCCCCTGAGGACTCTCCTCACTGTGACCTGTTTCCAGGTGCCTCATATCTCGTGACTCAGATTCCCGGGACTCAGACAGAGTCCAGGGCTGAGGAACTGTCCCCCGCAGCTCTGTCTCCCTCGCTAGAGCCCATCAGGTGCTCTCACCAGCCCATTTCTCTACTGGGCTCCTTTTTGACTGAGGAGTCACCTGACAAGGAAATAGATCAAAACAGCCAGCAAGAGGGATCCAGGCTGAGGAAGGGAACAGTGTCCAGCCAAGGGACTGAGGTGGTCTTTGCCAGTGCATCTGTGACTCCTCCAAGGACACCAGATTCAGCTCCTCCCAGTCCTGCTGAAGCCTACCCCATCACACCTGCCTCGGTATCTGCCAGGCCCCCAGTTGCCTTTCCCAGGAGGGAAACCTCTTGTGCTGCACGTGCTCCAGAAACTGCCAGTGCCCCTCTCTCAATGGATGACCCATCTCCCTGTGGGACTTCTGAGATGTGCCCGGCTGCCCTCTATGGCTTCCCCTCCACCGGGACCAGCCCTCCGAGGCCCCCAGCCAACTCCACAGGCACCGTCCAGCACTTACGGAGTGACTCCTTCCCTGGTTCTCACAGGACAGAGCAGACTCCAGACCTGGTGGGAATGTTGCTTTCCTACTCCCACTCAGAGCTGCCCCAGAGGCCCCCCAAACCTGCCATCTACAGCTCTGTGACCCCAAGAAGGGACAGAAGGAGTGGTAGGGACTACAGCACCGTTTCAGCATCCCCTACTGCCTTATCCACGCTGAAGCAGGACTCTCAAGAATCCATCTCAAATCTAGAGAGACCCAGCAGTCCTCCCAGCATCCAGCCCTGGGTCTCCCCACATAATCCAGCCTTTGCCACAGAGTCTCCCGCCTACGGTTCTTCCCCATCCTTTGTCTCCATGGAGGATGTGAGGATCCACGAACCTCTGCCCCCTCCTCCCCCACAGAGGAGGGACACCCATCCCTCCGTGGTGGAGACAGATGGCCATGCTCGTGTAGTGGTTCCCACGCTGAAGCAGCATAGCCACCCTCCTCCATTGGCCCTAGGTTCAGGGCTGCATGCCCCCCATAAAGGCCCACTTCCCCAAGCCTCTGACCCCGCTGTGGCCAGGCAGCACCGACCTCTGCCATCTACCCCAGACAGCTCCCACCATGCTCAGGCCACCCCCAGGTGGAGATACAACAAGCCGCTACCCCCTACCCCTGATTTGCCGCAGCCCCACCTTCCTCCCATTTCTGCTCCTGGTAGCTCAAGGATCTACAGGCCTCTACCCCCACTACCCATCATAGACCCTCCCACCGAACCACCCCCATTGCCCCCAAAGTCCAGGGGGAGGAGCAGGAGCACTTGGGGAGGACATATGAACTCAGGGGGTCATGCCAAAACAAGACCTGCTTGTCAAGACTGGACAGTCCCCCTCCCTGCCTCTGCTGGACGCACCTCCTGGCCCCCGGCCACAGCTAGATCAACAGAGTCTTTCACTTCCACCAGCAGGAGTAAGAGCGAAGTGTCCCCTGGCATGGCTTTCAGCAACATGACAAACTTCCTATGCCCCTCTTCCCCTACCACTCCCTGGACTCCGGAGCTCCAGGGACCCACCTCTAAGGATGAAGCAGGGGTCTCAGAACACCCTGAGGCCCCTGCGAGAGAACCTTTGAGAAGGACAACCCCTCAGCAAGGAGCCAGTGGCCCAGGGAGGTCACCTGTGGGCCAAGCAAGGCAGCCAGAAAAACCCAGCCATCTGCACCTGGAGAAGGCGTCCAGCTGGCCCCACAGGCGGGACTCAGGGAGGCCACCAGGGGACAGCAGTGGACAGGCTGTGGCTCCTAGTGAGGGGGCCAACAAGCACAAGGGCTGGAGCCGGCAGGGCCTGCGCAGACCTTCCATCTTGCCTGAGGGCTCTTCAG___ATTCAAGAGGTCCAGCCGTGGAGAAACATCCGGGACCCTCAGACACTGTTGTTTTTCG___GGAGAAAAAACCAAAGGAGGTGATGGGAGGCTTTTCAAGACGCTGCTCCAAACTCATCAACTCCT___CCCAGCTGCTTTACCAGGAGTATAGTGATGTTGTCCTGAATAAGGAGATCCAGAGCCAGCAGCGGCTGGAGAGCCTGTCCGAGACACCCGGGCCTAGCTCTCCGCGGCAGCCTCGGAAGGCCCTGGTCTCCTCCGAGTCGTACCTGCAGCGGCTCTCCATGGCCTCCAGCGGCTCCCTCTGGCAGGAAATCCCCGTGGTGCGCAACAGCACCGTGCTGCTCTCCATGACCCATGAAGACCAAAAGCTGCAAGAG___TCAAATTTGAGCTGATTGTGTCAGAGGCCTCCTACCTGCGCAGTCTAAACATAGCTGTGGATCATTTCCAACTTTCAACTTCACTCCGGGCCACACTTTCCAACCAGGAGCACCAATGGCTCTTCTCTCGTTTACAGGATGTGCGAGACGTCAGCGCCACGT___GTTCCTTTCAGACCTGGAAGAGAACTTTGAGAACAATATCTTCTCCTTCCAAGTATGTGACGTAGTCCTGAACCACGCCCCAGACTTCCGCCGGGTCTACCTGCCTTATGTCACCAACCAGACCTATCAGGAACGCACCTTCCAGAGCCTGAT___GAATAGCAACAGCAATTTCCGGGAGGTCTTGGAGAAGCTGGAGAGCGACCCCGTCTGCCAGCGCCTTTCCCTCAAGTCCTTTCTGATTCTGCCCTTCCAACGCATCACCCGCCTCAAACTGCTGCTCCAG___AACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAG___CTGATCCGGGACTGCAATAACAATGTCCAGAGTATGCGACGGACAGAGGAGCTAATCTACCTGAGCCAGAAGATTGAGTTTGAGTGCAAA___ATATTCCCGCTCATTTCTCAGTCACGCTGGCTGGTGAAAAGTGGGGAGCTGACAGCCTTGGAGTTCAGTGCTTCCCCAGGGCTACGAAGGAAGCTGAACACGCGTCCAGTCCACCTGCACCTCTTCAATGACTGTCTGCTGCTGTCTCGGCCCCGAGA___GGGTAGCCGATTCCTGGTATTTGACCATGCTCCCTTCTCCTCCATTCGGGGGGAAAAGTGTGAAATGAAGCTACATGGACCTCACAAAAACCTGTTCC)GACTCTTTCTGCGGCAGAACACTCAGGGCGCCCAGGCCGAGTTCCTCTTCCGCACGGAGACTCA___AAGTGAAAAGCTTCGGTGGATCTCAGCCTTGGCCATGCCAAGAGAGGAGTTGGACCTTCTGGAGTGTTACA|TTGTGAAGATGACCTCTCCGACGACAGAGAAGAGCTTCTGCATGG(GATTTCAGAGCTGGACATCAGCAACTCGGATTGTTTCCCATCCCAGCTGCTAGTGCATGGGGCTTTAGCCTTTCCTCTAGGGTTAGATTCCTACCATGGCTGTGTTATAGCGGCTGCCCGCTATGGCCGGGGCCGGGTGGTTGTGACTGGCCATAAGGTATTATTCACTGTTGGTAAACTGGGCCCCTTTCTGCTCAATGCTGTCCGCTGGCTGGATGGGGGCCGCAGAGGCAAGGTTGTGGTGCAGACAGAGCTGAGAACCCTGAGTGGCCTCCTCGCAGTGGGGGGCATAGACACCAGCATCGAGCCCAATCTGACCAGTGATGCAAGTGTCTACTGCTTTGAACCCGTGAGTGAAGTGGGGGTCAAGGAACTGCAGGAGTTTGTAGCAGAGGGTGGCGGGCTATTTGTTGGAGCCCAAGCCTGGTGGTGGGCCTTCAAGAACCCCGGAGTGTCCCCTTTGGCTCGATTCCCAGGAAACCTCCTCCTCAACCCCTTTGGCATCAGCATTACAAGCCAAAGCCTCAATCCAGGGCCCTTTCGTACTCCTAAAGCAGGGATAAGGACCTATCACTTCCGCTCCACCTTGGCCGAGTTCCAGGTTATAATGGGCAGGAAGAGAGGAAATGTGGAAAAGGGCTGGTTGGCAAAGCTGGGACCAGATGGTGCAGCTTTCCTGCAGATTCCCGCAGAAGAGATCCCTGCCTACATGTCTGTGCATCGACTCCTGAGGAAGCTGCTAAGTCGATATCGGCTTCCAGTAGCAACCCGAGAGAACCCTGTTATCAATGACTGCTGCAGAGGTGCTATGCTTTCCCTGGCCACAGGGCTGGCCCACTCTGGAAGCGACCTCTCTCTGTTAGTCCCAGAAATTGAAGATATGTACAGCAGCCCCTATCTGCGCCCCTCAGAATCTCCTATCACCGTCGAGGTCAACTGCACCAATCCAG___GCACCAGATATTGCTGGATGAGTACTGGGCTCTACATACCTGGAAGGCAAATTATAGAAGTCTCACTGCCTGAAGCTGCTGCCTCTGCCGACCTGAAG___ATACAGATTGGCTGCCACACAGATGACCTGACCAGGGCCAGCAAGCTTTTCCGAGGCCCACTCGTAATTAACCGGTGCTGCTTGGACAAACCCACAAAATCGATCACGTGCCTCTGGGGTGGACTCCTCTATATAATTGTGCCTCAGAACAGCAAACTGGGTTCTGTGCCTGTCACCGTGAAGGGGGCTGTGCATGCTCCATACTACAAGCTGG___GGGAGACCACCCTGGAGGAGTGGAAGAGGCGTATCCAGGAGAATCCAGGGCCCTGGGGAGAGCTGGCCACGGACAACATCATTCTGACCGTGCCGACCGCAAATCTTCGTACTCTGGAGAACCCTGAGCCGCTGCTCCGCCTCTGGGATGAGGTGATGCAGGCTGTGGCGCGACTGGGAGCTGAGCCCTTCCCTTTGCGCCTGCCTCAGAGGATTGTTGCCGACGTGCAGATCTCAGTGG___GCTGGATGCATGCAGGGTACCCCATCATGTGCCATCTGGAGTCAGTGCAGGAGCTCATCAACGAGAAGCTCATCAGAACCAAGGGGCTGTGGGGCCCCGTCCATGAGCTGGGCCGCAACCAGCAGCGGCAGGAGTGGGAGTTCCCACCACACACCACCGAGGCCACCTGCAACCTGTGGTGTGTGTATGTGCATGAGACGGTCTTGGGCATTCCTCGAAGCCGTGCCAATATTGCTCTGTGGCCCCCAGTTCGGGAGAAGAGAGTCAGAATCTACCTGAGCAAGGGTCCCAATGTGAAAAACTGGAATGCATGGACCGCACTGGAAACGTATTTACAG___CTCCAGGAAGCCTTTGGTTGGGAGCCATTCATCCGTCTCTTCACCGAGTACAGGAACCAGACCAACTTGCCCACAGAAAATGTTGACAAAATGAATCTGTGGGTCAAGATGTTCTCCCACCAAGTGCAGAAGAACCTGGCTCCGTTCTTTGAGGCCTGGGCCTGGCCCATCCAGAAGGAAGTGGCTACCAGCCTGGCCTATCTGCCTGAATGGAAGGAAAATATTATGAAATTGTACCTCCTCACACAGAT___GCCCCACTGAAATTGAAGTCAAGAAATGCAAAAAGGAACTGACACATCTCAGCAAAGAAAACTGAAGGGATTTGGTTATAAGTGGAGAGGATCTCAGCATATTTCTGGAAGATAGAAAGTGGATGAAGCATGATAATGAAAGAGTGAAGAACCTTTCAGATAAAATGTAAGCTGATCTGAACAACATAACCCCAAAGAGACTTGCGCACCTGAAAAGCTTGTCTACTGAAGAATTACTCCAGTTGTAAGATTGAGCCCTCTCCTACTCTCCCCCAACTCTTATGCACAGAACACAGGCAGTCTCCACTATTGATACCAGTTAAAAATTTCTTGTTATTGTTGCTGTTGTTGTTTGTATAAAGGAATTGAACAGGCTGCTTGCAGAGAGATAAGAGTTGGTGCTCCAGAAAAAAATTTCTCTTCTAGTGGAAATAAGTGCCCCTACCCCCAGCCGGTCAGCTAATTCTCTACTGACAGCTGAGACCTCCTACTCAAGTGCCTGTTGCCTTCAGGTATAGAAGAGGTTTCCTGAAGAAACAGACCTAACTGTACAACAGCAGAGGAAACCCATGCCAACTGTTATACAAGTTAACAGTTATGTTGATTTTTAAATGGGAATGGTGAGTTAGAAATTCCCAGACATGGGCGATGGGGAGGGAAGAGGAATAAGAAAAGTCACGAGGTAGAATTAGGGGCCTTGAAAATATGACAAACTCTGAGGGAAACAAAGACAATGTGGAAAGAATAACTTAATTTTAATTCCATCTCCAGAGAGATTTGAGGTGTATTTAAGATGAAAAACAGGATACTACAAAGAAACGGAAAACTCAGGAGTTCGAGACCAGCCTAGGCAAGATGGCAACATCCCGTCTCTACAAAATAATTTTTAAAAATTAGCCAAGCATGGTGGCATGTGCCTGTGGTCCTAGCTACTTGGGAGGCTGAAGTGGGAAGATCACTTGAGCCCAGGAGTTCAAGGCTTCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCTTAAAAAGCAAGAAAAGAAAGAGAAGACTGAGAATAAGAAGATCTCTTTGAAAATAAAATAAGACTGCTAAAAGTATTTGGTATACAGTCTGGAAAATAAAGTTGAGGGAATCTCTCCAGATAAAGAGCAAAAAGAAATAGATAGAAAAATATAAAGAAAGAAAAAAGACATAGACAATCAATATGTAATGTTAGGAGTTCCTGGAAGAGAGAACAGAGACAGTGTAGGTGAAGAAATAAAAAGAAAAAGAATTGAAGAACAGAGCAAGCTAAGTCTCCAGATTGAGAGGGCCCAATACAATCTACATCTAGACACAATATTGTAAAATTTTGGAATATTAAGGATAGAAGGAAGATATTAAAGTGGCCAGGGAGAAAACAAATGAGGTCATCACGATTAGCTCAACACAAAAATGGATGAGAAATAGACTGCTAACAGATTTGTCATCAGCAACACTGAATGCCAGAAGTCAATGGATCAACATCTTCAGAGCTTAAGGAAAATTTTTGTACCTAGAATTTCATAGTAAGGCAGACTGTCAAGAAGAACATCAAAGTGAAGACATTTTCTGTCAGGCAAATTTTCAGAAAGTCTCCTTTGCACCCTTACTGAGGAAGTATCTTGAGGAAATTCTCCAGCAAAATGAGGATGAAAACCAGGAAAGAAGAAGAAATGGGATCCATAAAACAGTGGACCTTACTTAGGATGTCTCATTCTAGAGTGACAGCCAAAAGGGTATCTCACCCTAGAGTGACAGCTATCCAGCAGACTAATTTCAGATGAGAGCATACTGTCTCGGGCTTTCTGGGAAGAATGTGCATTCAGTGCCATAGATAGTATCATTGAAGAGCTGGGATGCTTGAGAAGATTATTTAGTCAAGAAAAAAGAAAGACAAATCAACAATATGTCAAAAAATTCAGGTCCAATTATAGAGCAAAATAAAATGAGGCATGATTTTGAGTTATTCATGAAGAATAAGAAGAGGCTTGATAGGTACATTTCCTTTTCTATGGCACAGGCATGATGATATTGGGTGTGTAGGGAAGAAAATATCCTAGCTTATACTAGGCTCCCAGTAAGAAGTATTTAAATAGCCAAAATAATGTGGATATCATTTATTAGTATTCAATGTTCAGATCAGCCTATTAACAAAGTGTGAAAGGTTTCATTTTTTATTCAGAACTGAAGTTGAAAGTAATTAATGCTGACAAAGGGAAAGAAAGCAGAAAGAGATTGAGAATTAGAGGAAGAGAAGTGGAATCAAAGGTAGAGATACTTATATATTCAAAGTGGGGATGAAAAGATCTTCAGTTAATGGAACAAGAACTAGAGGATTAGTGTATTGTTCAAAGCTATAAAATCAAACCAATAGATGTATTAAAAAGTGATGTAACTATCAGACATTTGGAGAGAGATGGACAAAGGAAAGTGGCGATAGTGTAAGTTAAATCCTTATCTTTTGTAATGGGGAATTATTAAAGATGTTGTAAAGTCAGTAAGTCAAGAAATTATTGCTCAAACATATTATTTAAAGTTAGAAAGTTACCAGACGATCTAAAATAAATATTGTTAAAAGCATTACCTCTAGGGAATGGGATTTAGATTTAAAAAGGGTGGGATGGGAAACTGTGTTTTTCATTTTAAGTCCTTCTGTACTATTTAATTTTTTACCTTGTGCATGTATTACTTTGAAAAAATTTTTAATAAACCCAAATAAAAATCTT)$ . 11CO031 ENSG00000143549.21 ENSG00000198400.11 -/- +/+ chr1:154170400 chr1:156874571 CDS/splice-site CDS/splice-site inversion 92 79 7 1465 277 high in-frame Mitelman Tropomyosin(100%)|Protein_kinase_domain(100%) . . ENSG00000143549.21 ENSG00000198400.11 ENST00000271850.11 ENST00000392302.6 upstream upstream duplicates(13),mismatches(2) ^(CTCCAGTGTTCACAGGTGAGCCTACCAACAGCCACTGCTCATGATGGAGGCCATCAAGAAAAAGATGCAGATGCTGAAGTTAGACAAGGAGAATGCTCTGGATCGGGCAGAGCAAGCTGAAGCTGAGCAGAAGCAGGCAGAAGAAAGAAGTAAACAG___CTGGAGGATGAGCTGGCAGCCATGCAGAAGAAGCTGAAAGGGACAGAGGATGAGCTGGACAAGTATTCTGAAGCTTTGAAGGATGCCCAGGAGAAGCTGGAACTGGCAGAGAAGAAGGCTGCTGAT___GCTGAGGCTGAGGTGGCCTCCTTGAACCGTAGGATCCAGCTGGTTGAAGAAGAGCTGGACCGTGCTCAGGAGCGCCTGGCCACTGCCCTGCAAAAGCTGGAAGAAGCTGAAAAAGCTGCTGATGAGAGTGAGAG___AGGTATGAAGGTTATTGAAAACCGGGCCTTAAAAGATGAAGAAAAGATGGAACTCCAGGAAATCCAACTCAAAGA)AGCTAAGCACATTGCAGAAGAGGCAGATAGGAAGTATGAAGAG___GTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGGAACGCACAGAGGAACGAGCTGAGCTGGCAGAGTC___CCGTTGCCGAGAGATGGATGAGCAGATTAGACTGATGGACCAGAACCTGAAGTGTCTGAGTGCTGCTGAAGAAAAG___TACTCTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCT___GTGTTCACCACATCAAcCGCC(GGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAG___GCACTGAAGGAGGCGTCCGAGAGTGCTCGGCAGGACTTCCAGCGTGAGGCTGAGCTGCTCACCATGCTGCAGCACCAGCACATCGTGCGCTTCTTCGGCGTCTGCACCGAGGGCCGCCCCCTGCTCATGGTCTTTGAGTATATGCGGCACGGGGACCTCAACCGCTTCCTCCG___ATCCCATGGACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTCCAGGCCCCCTGGGTCTGGGGCAGCTGCTGGCCGTGGCTAGCCAGGTCGCTGCGGGGATGGTGTACCTGGCGGGTCTGCATTTTGTGCACCGGGACCTGGCCACACGCAACTGTCTAGTGGGCCAGGGACTGGTGGTCAAGATTGGTGATTTTGGCATGAGCAGGGATATCTACAGCACCGACTATTACCGT___GTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAG___GCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGA)$ MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESRCREMDEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHInRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG* 11CO031 ENSG00000143549.21 ENSG00000198400.11 -/- +/+ chr1:154169305 chr1:156874571 CDS/splice-site CDS/splice-site inversion 9 5 7 41 277 high out-of-frame Mitelman Tropomyosin(100%)|Protein_kinase_domain(100%) . . ENSG00000143549.21 ENSG00000198400.11 ENST00000651641.1 ENST00000392302.6 upstream upstream . ^(ACTCAGGCAGCAGCCCCTTCTTTCTTGCCCCAGTCTCCAGTTCTCCAGTGTTCACAGGTGAGCCTACCAACAGCCACTGCTCATGATGGAGGCCATCAAGAAAAAGATGCAGATGCTGAAGTTAGACAAGGAGAATGCTCTGGATCGGGCAGAGCAAGCTGAAGCTGAGCAGAAGCAGGCAGAAGAAAGAAGTAAACAG___CTGGAGGATGAGCTGGCAGCCATGCAGAAGAAGCTGAAAGGGACAGAGGATGAGCTGGACAAGTATTCTGAAGCTTTGAAGGATGCCCAGGAGAAGCTGGAACTGGCAGAGAAGAAGGCTGCTGAT___GCTGAGGCTGAGGTGGCCTCCTTGAACCGTAGGATCCAGCTGGTTGAAGAAGAGCTGGACCGTGCTCAGGAGCGCCTGGCCACTGCCCTGCAAAAGCTGGAAGAAGCTGAAAAAGCTGCTGATGAGAGTGAGAG___AGGTATGAAGGTTATTGAAAACCGGGCCTTAAAAGATGAAGAAAAGATGGAACTCCAGGAAATCCAACTCAAAGAAGCTAAGCACATTGCAGAAGAGGCAGATAGGAAGTATGAAGAG___GTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGGAACGCACAGAGGAACGAGCTGAGCTGGCAGAGTC___TAAGTGTTCTGAGCTGGAGGAGGAGCTGAAGAATGTCACCAACAACCTCAAGTCTCTTGAGGCTCAGGCGGAGAAG___TACTCTCAAAAAGAAGATAAATATGA)GGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG___ATGAGCTCTATGCCCAGAAACTGAAGTACAAGGCCATTAGCGAGGAGCTGGACCACGCCCTCAATGACATGACCTCTAT|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTC(AGTGATGCCT___GTGTTCACCACATCAAGCGCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAG___GCACTGAAGGAGGCGTCCGAGAGTGCTCGGCAGGACTTCCAGCGTGAGGCTGAGCTGCTCACCATGCTGCAGCACCAGCACATCGTGCGCTTCTTCGGCGTCTGCACCGAGGGCCGCCCCCTGCTCATGGTCTTTGAGTATATGCGGCACGGGGACCTCAACCGCTTCCTCCG___ATCCCATGGACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTCCAGGCCCCCTGGGTCTGGGGCAGCTGCTGGCCGTGGCTAGCCAGGTCGCTGCGGGGATGGTGTACCTGGCGGGTCTGCATTTTGTGCACCGGGACCTGGCCACACGCAACTGTCTAGTGGGCCAGGGACTGGTGGTCAAGATTGGTGATTTTGGCATGAGCAGGGATATCTACAGCACCGACTATTACCGT___GTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAG___GCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGA)$ MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSi|h* 11CO031 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 8 8 0 27 23 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CAGCCACCTGGAGCGCAGCTGCCAG___...AGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCAT(GACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO031 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 4 9 0 21 84 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream mismatches(1) AACAAAATCTCGCGATGTTTCCGAGGCAACGCGCTGGTGTGGGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGAT(ATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO031 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 4 1 29 18 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGT)CTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO031 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 17 15 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520052.1 upstream downstream duplicates(1) GACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGA(AACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO031 ENSG00000133315.11 ENSG00000162227.8 -/- +/- chr11:64151239 chr11:62774665 CDS/splice-site intron deletion/5'-5' 2 1 0 86 4 high out-of-frame . Macro_domain(100%)| . . ENSG00000133315.11 ENSG00000162227.8 ENST00000255681.7 . upstream downstream . ^(GAGCAGGTCGCCGCTGGCTGGCAGTCGCCACCCGGTCCCAGAGTAAATAAGGGAGAGACACTCCCGAGCGCCGTAAATAGAGTCCAAGTGGGCGGAGAGCCGTCCCGCGCCGCCCGCTCATGTCTCTACAGAGCCGACTGTCCGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACACTTGGCGGGTGCCACGAGGACCCGCAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGAGTTGGGGCGTGGGGGGCGGCGGCGGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGCACCTCCACCGACTGGAAGGAGGCGAAAT___CCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGA)CTTTGTCAGGCTGAAGAAGATCCCGACATGGAAGGAGATGGCGAAAG___GGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTCAATGAGAAAATCTCCCTGCTCCGCAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCG|GGTATAGCACAATAAGAAACCGACAAAAACAGCAGCTGATGACTCACTCCAACAACGCACAGCACCAGAAG___GCAAGGAAATCAAACCTCAGAGGCTAAATGTTCCATGACTTCTCCAAGATCATGAA___GAGCCGCCAGCTGTATGGGG MSLQSRLSGRLAQLRAAGQLLVPPRPRPGHLAGATRTRSSTCGPPAFLGVFGRRARTSAGVGAWGAAAVGRTAGVRTWAPLAMAAKVDLSTSTDWKEAKSFLKGLSDKQREEHYFCKDFVRLKKIPTWKEMAKGVAVKVEEPRYKKDKQLNEKISLLRSDITKLEVDAIVNA|gystirnrqkqqlmthsnnaqhqkarksnlrg* 11CO031 ENSG00000113269.14 ENSG00000211597.2 -/+ -/- chr5:180055629 chr2:88861923 intron CDS/splice-site translocation/3'-3' 0 33 0 0 6443 medium . . . . . ENSG00000113269.14 ENSG00000211597.2 . ENST00000390242.2 downstream downstream duplicates(31),mismatches(82) AGtTAtTAtTGCCAACAGTATAATAGCCA|GTGGACGTTCGGCCAAGGGACCAAGGTGGAAATCAAAC$ . 11CO031 ENSG00000162543.6 ENSG00000162543.6 +/+ +/+ chr1:20190684 chr1:20190664 CDS CDS duplication 10 8 0 59 56 medium in-frame . |UBX_domain(100%) . . ENSG00000162543.6 ENSG00000162543.6 ENST00000375099.4 ENST00000375099.4 downstream upstream . ^(GTTGTTTACCAGCA)GGACAGAGCCCGGGCGCAGGCGGCGGATGGAGCGGAACGGCTAG___GGGTCTTGAGAAGCAATGGCCACAGAAGCCCCTGTGAATATAGCACCACCTGAGTGTAGCACTGTTGTCAGCACAGCAGTTGACAGCCTCATTTGGCAGCCAAACTCACTAAATATGCACATGATAAGGCCCAAGTCC|CACATGATAAGGCCCAAGTCCGCCAAGGGACGGACAAGACCGAGTCTGCAGAAATCCCAGGGCGTGGAGGTGTGCGCTCATCATATACCATCTCCGCCTCCAGCCATTCCCTATGAGTTGCCAAGCAGCCAAAAACCAGGAGCCTGTGCACCCAAATCTCCAAACCAGGGAGCTTCTGATGAGATCCCTGAGCTGCAGCAGCAAGTACCCACTGGGGCTTCCTCTTCTCTCAATAAGTATCCAGTCCTTCCTTCCATCAACAGAAAGAACCTGGAGGAGGAGGCTGTGGAAAC(CGTTGCCAAAAAGGCCAGCTCACTGCAACTGAGCAGTATCCGGGCTCTTTACCAAGACGAGACGGGCACCATGAAGACAAGTGAAGAAGATTCCAGAGCTCGAGCTTGTGCCGTGGAGAGGAAATTCATCGTCCGAACCAAGAAACAGGGCTCTTCCAGGGCTGGAAATCTGGAGGAACCATCGGACCAAGAACCAAGGTTGCTGCTTGCTGTTAGATCACCAACAGGCCAAAGGTTTGTACGCCATTTCCGGCCAACAGATGATTTGCAAACCATTGTTGCTGTGGCCGAACAGAAAAACAAAACCTCCTACCGACACTGCAGCATTGAAACAATGGAGGTGCCCAGGAGGCGATTTTCTGACCTCACCAAATCTCTGCAAGAGTGCAGAATCCCCCACAAGTCTGTGCTGGGCATCTCACTGGAAGATGGGGAAGGGTGGCCCTGAGTCCACAGCCACCCAGCTGAGGTCCTGGGTCTCTGAGCAAAGGAGCATGCTTGGGCGTTGTGGCCTCTTAGGCAGCCTGTTTCAAGTGCCATGTGGACCTGGTGCAGCTGGGAAGCTTGGGACTCTCGTCTGCACTGCGTGTCCTCTGAAGCAGTGAAGTCTGTGCCTATGCCGAGCGCGCTAAGAAGTCTCCCTTCCAGCTGTTCCATTCTCTCCACCACCAGCGTAACTGGCAAGTTACCAAGGTTGTTCCTGAAACAGCAGTGATCATGACTTCTCCTTTCCAGAGTTTTGGGTCCTTCTGAATTAATGGTCCTTTTCGAACACCGGCTTGCCTTTACAGTGAACTGTGATTCTCTCGAAGCCAATGCTTTCCTGTCTGTATTTGATGCAGGATTAAACACTTCCCAGAGAGGATTCTAGTCTGGTAAATAACCACAGTGTAGGAACTATCTAACTGGCATTTGTGTTTCTTGCGAGTATTTTGAAGAAACAGGCCGTTGACCCCATCTTTGGAAGTAGCCCTTTACCATGCATGGTCAGTTTCTTAGGGATTTACTATTTGTGTGAGGTGGCATCTAAGGGAAGAATGGGTTTTCTTCCCCAAAACATCAGCATTTCTAAAATAGTCCTAAAGCTTGAAAGTAAGTTGCTTCCATGAGCATGGATTACCCAGTAGCTACTTTTTAATAGAGACTGACTAGGTTTACAACTTCTGGGAGCTACTCTGTGGGCTGAATTCTTCCAAAACCGAGAAAAGCCAGTGCAGTCTGATTTCTTTTGCTTTTGTCAGTAATGGAATCTTTTGTTTTTAAAATGTACAAACCTATAAGTTTAAACAGGTTTGTACTGACAACCTCCTTGGCTTATTTGGGGGTGGAGCAATTGTTTTATTCCCCAGTTTCAGTGCGTTGCCCACTTCAAACATGGTGTGTCCTTTGGAGCTGTGACAGAGGTGCCTGTTCTGACTTAGAACCTCTGGAGGAGGAGGGGGGTGCCTTGGTCTCGTGTTACTTTGCTGTGCCTGTGCTGAGAGACCATGTGCCCGAGCATCTGGTTGACCGGCATGAAGTACATCAGCCTGTCTTAGCCTGAGCTGCTTTGAAGACCATGGGGTCTTGTGTTTCCAACTTCGAAGTGCTGATGTGGACAGTTTGCCAATGTTCTCTTCTATTGCAAGTTCAGCCAGACTCCATGACTCATCTGATCCCTTTTATGGCCAAATCATCCTTCAGAGTAGGGAACACTCAGACATTCTGTGCATGTTGTTCCCCCAAAGCATGGTCATCACAAAGTCCTGAGTTCTGGTGTGTGCTCCCGCCTCCTGGGTATACAGAGAGAAGGCAGGAATCAGGAGTTCCAGAAGCATATACATGTGGCTACCCCAGCAACAAGCGCATCCTGTGCTCAGATAAGCTGCATGGTTGGGAGTGTTTTTTCTCGCACGTTGAGGCTTAGTGGAGATGGGCACCACTGCCATTTGCTCAGAAGAAGGCTGGTCTGGTCCTAACTGCATCCCACACTGCCCAGATCATTCTAGAATAGGTTATTTCTGAATGTTTTATAGAATTTCTTAATACCATCCTGGTTTGGTCAGCCATTCCTTTGATTGGAAAGGTCAGCTGGGGCCAGTGGTGCCTCAGGCAGGCCCACACAACTGGCCACCTCTTCCCGTTAATGACCACAGCAGACAGAATTTGAGCCCAGCACCTAAAAGTACAGGAATTTCACTTCCCACCAGGACTTGAGCACATAACTCTATGTCTGATCTAGGAGGCTGGGGGAAGAGCCTCCCATAAAATCACACCTACTCTGTGGTAAGAATAAAATCCCACCCACCTGGGACTTGGTAATTTCTCCAGACAGGAAAGCTTTAGAAAACTTGAGTGAAATGGAGCAAGCTTGAAGGAGTTAGAATCTTCTGTGCTTAGGGTTTGCTGCTGCTGGTGAGCTTAGAATTTTGGGGTTGGGAAAAAGTGGAAGGCATAAGCATAGAAATATTTTAGGATATTTTAGGATATGTGAATAAAGCTAGACTCAAACCATCATAATAAACATTTTTTTTTTGGACAAAAGATGATACGATAAAAACCAACTTGTGTGAAACTGAGTCAGTGGAGAAGTGCATCTCGTATTTTAACCTAAGGCTTCAGCTCCCACACACGACTGGACAGAGGGGTGTGTTAGCCTGATCTTCAGTTTTCTCATTGGGAAAGCACTTGTTCCACTGTTAGAACCAAGTCCTCCTCCCCGGACACTTCTGATGCCCACTGCAGAAGCGACGGGGCTCCTGCTCTCAGCTTCTGTCACAGCACTTAGCTTGTCTGGATAAGAGTCACCTGAATTTTTCCTAAACATCATTCCAAGTACTCTGATTTTGGGGATTGGCAAGAACAAACTAAATCAGAATTCAGAGTTCCTGATGGCTCCACATGTTGCATTGCAGCTGAGGCCCCCTGTCCTAAATGGGCTCAACCGGCCTAGCACACTCCTCTTGGTGGCTTTGGGTGGGTCAGCCTTGCCCAGTTTGGGGTCATAGACCTCAGTTATTCATTTAACCGATGGCCATTGAGGGCTTACCCAGTGCCACACTTTGAGACAAGCATGGGTGTCCTGAAAAGAAAGTGTTGGCAAGAAAACATGAACCCACCATTGGACTCTCAACTCAAACCTTACTGAAGTCAGTGGCTATAGCTTTATCTGCAAAGGACCCCAAAGTGAGGATCCCACATTGTTACTGCTGGCTCTTCATCCCACCCTCTGGAGATGCTAAGGAAGCTCTTGCCCACCTTTTCTAGTGATGGAGTAGGAACTTTGCATAGGACAAACCTTCATGATAGGTTACTCTAGTATATTCCCTCATAAAGTCCAATAGGTAAATTAGTCTTGGCAGCAGAAGGAACAGCAGGAGAAGTAAGTGATTCATCATCTAGAATCCAGAAAATTTGCACCAACAGATGGCAGGTGGTTATAACACAACAGATCTTGCCCTGAGAATATCTGGGGACCCAGCCAACAGCCTTCAAGGCAGGGCACTCCTGCGGAAGAGATGGCTTGTGAACATGACTGTGGACCCAGAGTCACCCCAGAGCTCCCATATAAAATGCTTCACAGAGAAACTAAGAGCAGCCTTGGGGCATTCATTCCAATTAATAACCTTAAAGACTAGAGCCAGATCCACCTGCATTACAAAAGCAGGCATTCGAGGAACTAAACTTTGCTTTTGTTCATGCTCTTACCTGCCGTTTTAAATGGGTTTCTAATGTCAAATAAAGCCACCCTGCCTCTTGGGACAAAGATGTTTCTCTTTACTTAGTTTTAAAAATAAAATCCTCATAATAAGTTCGGATAAAAGAGACTTTTACATGGTAAGAGGATCTACTTTTCTACCTTTTAAACGGAATAAAGAAGACAGCTATATTATTTTGCTTTAGCATTAGTTTAGAAGTCATTCCAAGAATTAAGCAGGAACATCTGTTTTCTCAGTCCATTAAGGCAACACCCCACAGTAAAGTTAAAAGTTCACGAGCCTATTGACTCTCATCCAGAAACCAGAACCAACCAAACCCCACCATATAACAGGGAAGGCCTGAGGTCGCTTCGGAGGAGTTAGCAATCAAAGGAGAACAGACTTTTGGTGACTCAGTTACCAACACACAACACTCATAAAACTAAAATTAGGTGTTTTATTTTTTGTCTACACGGGTGGCGTGCCACTTTCCTTTCCTGATTAGGGAAGCTTCTCCCAGCCCTTTCTGACGTTCATCTGTGTGCCTTTATGTTCAAACAGTTTAGGAAGCAGCAGCCCTCCTAACAGTCGACGCGGAAGCACAAATCTCTGGAGGTATTTTTGGACACACTTAAATCCTATCCCAAGAGACTGAACGACTGTGGTGACAAATGCCCACGGGTAAAACTGAGCAAGCCTCATTCAGACTGTCCTGCTCAGAGGCGCCCTCTGGCTGCCGTGTTGAGGGGCTGGGGTGGAAGATGGAAGACTTGAGTGCTGGAGGTATGAAGGTGACCAGAGAGAGGTGATGGTGGTTCGGGCCAGGGTGGTAGCCAGAGATGTCATGAGAGGTGGCCAGATTCTGGACATATAATCCATTTTCTTAAGGAGAAAAAAAAGGATAGTTTGACAAGTTGGGATTCACCCAGGTGGACTTAGCTTGACCAATATCGCCAACGTGGATTGTTTCTGCAAAAACAAACAAGCAAACAACCACCACGGCAGCAAAGCACATGGCAGGCAGGGGAAAGACACTGACCAGCAGGAACATTCCCATCAAGGAAATGCACGAGTGTTTTTGGACAAAGTGTACAGAGAAAATCAAAGCTATTCATTGTTTTAATTAAGAGATAAAACTAAGGTCACTGTTTCACTTAATGTTGAGATATAAGTTAAAAGTATCATCTACCTCTAGGGGTATGATATGACTGCTGACCAAGGTTACTTAATAAGAAATCCTTGTTCTAGTTAAATACACTGTTTATCTCTATCTCCTGTCCTTCATCCCTCCCTTTCTTGCCACCCTTCCCTCCATTTATTCCAGTCCAGCAGCTGACTGGGGATGCATTTCTTCTTGGGAAGGCAAACAAAGCCATCATTCTGGGGCTTAATTAATAAAGCTCCTAGTTTCATAGTT)$ MATEAPVNIAPPECSTVVSTAVDSLIWQPNSLNMHMIRPKS|HMIRPKSAKGRTRPSLQKSQGVEVCAHHIPSPPPAIPYELPSSQKPGACAPKSPNQGASDEIPELQQQVPTGASSSLNKYPVLPSINRKNLEEEAVETVAKKASSLQLSSIRALYQDETGTMKTSEEDSRARACAVERKFIVRTKKQGSSRAGNLEEPSDQEPRLLLAVRSPTGQRFVRHFRPTDDLQTIVAVAEQKNKTSYRHCSIETMEVPRRRFSDLTKSLQECRIPHKSVLGISLEDGEGWP* 11CO031 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 6 0 233 39 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO031 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 10 2 0 954 16 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATG)GGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTAC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 11CO031 ENSG00000266965.1(29885),ENSG00000141429.13(27076) ENSG00000141429.13 ./+ +/+ chr18:35627484 chr18:35654560 intergenic 5'UTR deletion/read-through 4 7 0 16 50 medium . . |Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%) . . . ENSG00000141429.13 . ENST00000269195.5 downstream upstream mismatches(1) GCCGCCGCCGCCGCCGCGCGCCTAGCGAG___GAGATGTGGGACATGTGGATTTGGGATATGAATTCATTTGAAAAACCACTTTGG|GGTATGAACGTGATTTCTGATGAAACTGGATTGGAATAATTTTCATGATCTTTGTATATTTATATATATATATTTTTAAATTTTGCATTTGACTTAAAGTGCCATGAGAAAATTTGCATACTGCAAGGTGGTCCTAGCCACCTCCTTGATTTGGGTACTCTTGGATATGTTCCTGCTGCTTTACTTCAGTGAATGCAACAAATGTGATGAAAAAAAGGAGAGAGGACTTCCTGCTGGAGATG___TTCTAGAGCCAGTACAAAAGCCTCATGAAGGTCCTGGAGAAATGGGGAAACCAGTCGTCATTCCTAAAGAGGATCAAGAAAAGATGAAAGAGATGTTTAAAATCAATCAGTTCAATTTAATGGCAAG(TGAGATGATTGCACTCAACAGATCTTTACCAGATGTTAGGTTAGAAGG___GTGTAAAACAAAGGTGTATCCAGATAATCTTCCTACAACAAGTGTGGTGATTGTTTTCCACAATGAGGCTTGGAGCACACTTCTGCGAACTGTCCATAGTGTCATTAATCGCTCACCAAGACACATGATAGAAGAAATTGTTCTAGTAGATGATGCCAGTGAAAGAG___ACTTTTTGAAAAGGCCTTTAGAGAGTTATGTGAAAAAACTAAAAGTACCAGTTCATGTAATTCGAATGGAACAACGTTCTGGATTGATCAGAGCTAGATTAAAAGGAGCTGCTGTGTCTAAAGGCCAAGTGATCACCTTCCTGGATGCCCATTGTGAGTGTACAGTGGGATGGCTGGAGCCTCTCTTGGCCAGGATCAAACATGACAG___GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG___GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG___ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG___GTGTTACAAAGGTAGATTATGGAGATATATCGTCAAGAGTTGGTCTAAGACACAAACTACAATGCAAACCTTTTTCCTGGTACCTAGAGAATATATATCCTGATTCTCAAATTCCACGTCACTATTTCTCATTGGGAGAG___ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG___GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG___AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACTGAGACAATGAAAAAAAATCAACAAAATATGCTTTCTGGAGAACTGTACCTTTTATGGTTTGCTTGCACATCAGTAGTTTCTGCTGAACGTGCTGTCATAATGAAGAGATTTCCAAGATTTTTTTTCCTGATTAGAACTGGTAGCCAGTATATTAAATATTGATATAAAAATAAAAGAACTGGAACCAGATTCAGAATCATGAAAACAACATTTTTACAACAACAAAAAAACTATATTAAACAGGGTTTAAAGGAAATTAAAACAGAACTATGAGAAGTACAATTTGTTATAGTATAGTATCAAATTTCTATATAGATTTTATACCTCAGTGGGGAAAAATAACTGATTCCAATGACATTCATTTTGTTTTCATCTGTGATAGTCATGGATGCTTTTATTTTCCTTGGGGTGCTGAAATTGAGCTGAAAAAAAAAGGCTCTTTGAATATAGTTTTAATTTCTCTCTACAGTTTTTTTTGTTTGGTTTGTGGGCTGTTGGAATTGTAATTTTTAATTGCCTTCTAAAAAATGGAAATTTAACAATGTCTGATCTCAGCTGAACAAATTAGATGTTTCAGTTGCTCTTGGGTCAACTGGCTTACAGATTTACATGTGCACACACACACAAATTTCTTATCACATTTTCGACTTCTTCACTTGACCTAACTGATTATGCGAAATACCCAAGATTCATGCTACTGTACCACAGATTTGTTTTCACAGCAATAAATCTTCAGTTCTTTGTTTATGATTCCACTTAACAAAAGGCCTGCAGAAGTGATTTATTATTTGGGTATTTGGAGATAATACATTTGATGGTTTTTTGGAAAACCTTTTTCACTCCATACTCAGATATGCTTCATTGTCAAATGCATATTTAGATTAGATTATTGAATTGTAATGTTTATCTGCTGCTTTTTTTAAATAAAATTTGACTGAAAATGTTTAATTGGCATTTTTTAATGACTTAGCCAAAGAAGTGCAGCTATTATTCCATATTAATAGGCTTGCATTTCTTTTCCTAAATCTTATTTAGGCTAAATCAGTTTTATTTTTCTCTGATTTTTTTTAATACCACAGAATCACCTGAGTGTCAATTGAAAGTTGTCAATTAAAAGGTAACCTTTTAATCTCGTAGGAGGAATCTCATTAAGACATTTTTCCTGATATGTAGAGCAGTCTGTTGGCAAAAATGCATATATTTTCTTTCATATTTGTAAAATTATATTTAATGGAATTCTTTTCTTTGATTATCAAGGACTTTCACTGCAGGCAGTGCTATTTCTTGTGCCTAAGAATGTTTCCAAAAGTCGCATCGCTAATGATATTTGCCAAGTTGAGTGTACACAAAGTTTCTCATATCCTGTTCAAGTTAATCAACATCAAGCACATGGGGATGCTTTAGGGTGAGTCTATAGTACAAAATGCATAAACCATGTCCCCAGGAAATTTGAAAGGAAGCAGGTGCTGAATGGAATTTTTTTCCTTTTCCATGAGCTGTGTTAATTCTATCTCCAGTAGGCCTAATGCTTGAATAAGCAAGATGTCTAATCAATAAATTATTTTCATGCTCAGAATTTCAGGTTTTTGTACTCCAGCATAGCTTGGTCTTATTTCTTACTGTATGAAAGCTTAACAGCAATGTGATTTAAGGTTTTGTTTTAAATGGGAGATGTAAGTGATTTAATTCATGGGTACTTTTAGAACCTGATAGATAATCCCATTGCCTTTATTTTTCTAATTAAAGAATTCCTAAATACTTTGAAAATACAAAATATTCCTGAATA)$ . 11CO031 ENSG00000161551.14 ENSG00000269483.2 -/- -/- chr19:51877282 chr19:51843315 CDS/splice-site exon deletion/read-through 2 2 0 29 11 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000269483.2 ENST00000301399.11 ENST00000594725.2 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAA)CTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTTTATCATCATTCAATGATGTGGCTGTTGACTTCACCTGGGAGGAGTGGAA?CTATTAGACCCTGTTCAGAAGAACCTCTACCAGGATGTGATGTTGGAAAATTACAACAACCTAGTGTCACTGG___GTTGTCAAGCTACCAAGCCAGAAGCAATATTCCAGT$ MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gfiiiq* 11CO031 ENSG00000257727.6 ENSG00000135473.15 -/- -/- chr12:56309935 chr12:56317643 3'UTR CDS/splice-site duplication 3 1 0 37 33 medium stop-codon . TLR4_regulator_and_MIR-interacting_MSAP(100%)| . . ENSG00000257727.6 ENSG00000135473.15 ENST00000273308.9 ENST00000610546.4 upstream downstream . ^(AGGCGGTCGCCGGGACACCCCGTGTGTGGCAGGCGGCGAAGCGCTCTGGAGAATCCCGGACAGCCCTGCTCCCTGCAGCCAGGTGTAGTTTCGGGAGCCACTGGGGCCAAAGTGAGAGTCCAGCGGTCTTCCAGCGCTTGGGCCACGGCGGCGGCCCTGGGAGCAGAG___GTGGAGCGACCCCATTACGCTAAAGATGAAAGGCTGGGGTTGGCTGGCCCTGCTTCTGGGGGCCCTGCTGGGAACCGCCTGGGCTCGGAGGAGCCAGGATCTCCACTGTGGAG___CATGCAGGGCTCTGGTGGATGAACTAGAATGGGAAATTGCCCAGGTGGACCCCAAGAAGACCATTCAGATGGGATCTTTCCGGATCAATCCAGATGGCAGCCAGTCAGTGGTGGAG___GTGCCTTATGCCCGCTCAGAGGCCCACCTCACAGAGCTGCTGGAGGAGATATGTGACCGGATGAAGGAGTATGGGGAACAGATTGATCCTTCCACCCATCGCAAGAACTACGTACGTGTAGTGGGCCGGAATGGAGAATCCAGTGAACTGGACCTACAAGGCATCCGAATCGACTCAGATATTAGCGGCACCCTCAAGTTTGCG___TGTGAGAGCATTGTGGAGGAATACGAGGATGAACTCATTGAATTCTTTTCCCGAGAGGCTGACAAT)GTTAAAGACAAACTTTGCAGTAAGCGAACAG___ATGGAGGGACCAGCAAGAACAGAGACAGGAAGGGGAAAATGGATGTGACCAACTCAGCTGAAAAGTAAGGGCTTTATCGGATAGGGACAGACGAG|ATGCAGCTGTCTTCTCCTCAGTGCTGGCGCTCTGACTACCCTTCCCAAAGAACCACaGCCCTCTCCCTTTACTGTTCTATAGCCCC(AGAACTGGGAGATGGCTTCCTAAGTTGGCTATACCTTGTCCACTTCCAGTACTGGACGTGCTCAGGGTCTAGGGTCACAGATGGTGCTATTAATTGAACTGGAACACAGCAGAATTGTTGCAAAGGTTCTAGGAGCCAGATTCATTCCTTCTTCATTCTTTGCAAAACAGTGGTACAGACATGGAGTCTAGAATTGACCCAGATGGAAAGTAATTGGTATTCTTAATATCCTGGGTGACTAATATCCAGGCAGAGAAGCTCCTGGAACCATAACTGTAAGTTCCTAGCTGGCTAGGGATTGAAGTCCTGGACAGTGACAGAGGATACCACAGTAGTTCAAGACTTAGCACAAGTCACCAACTGCTTCAGGGATACCTGGAGGGGCCAGCAAGTAGAGTGTTGGTGGCCCAAGCAAACCAGTGTTGCCAATACCATTGCCAAAAGGGCCTTTGGATCCTGGACAAAGCTTGGCTGCCGGCTTCATTTATTCCTGCTGATGGCTGAGAAGCATCTGTCTTCCATCCCACTTGCCTGTCCCAAGTTTTGTTCCATTTTTTAAAAATTTGTTGTAAACTGCATGTTTTATAAAATAAAAATAAAATATCGTTTGTTATTTATCTCATTAGAGAACTGCTAGTGTGGGTTCTCTGGCTTCAGTCTTCCTCTCCTTCCTTTGAAGGTAAAGGTCCGGAATCCAAAGTTATGGATATGAAAGGGTATAATTAGGCCGGGCGCGGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGAACACGAGGTCAGGAGTTAAAGACCAGCCTGACCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGATGGCGACTGTAACCCTAGCTGAGGCAGAAAATTGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTATGCCAGCCTGGGCGATAGGGCGAGACTCCGTCTCAAAAAAAGGGGAAAAAGGTATAATTTATGCCTTTTCTGGGCAATGCTGGGTCTTTGCTATAGCTGCCCAGTACCCTAAGTCAGACTGAAGATGTACAGTATGGTTTCCGTTAATTGTGTAAGCCGACAAACTACAGGTCCCAGGATAGCTTGAGACTTGTAGTTGCTCACAAAGATGGGTCCGGTGCTGCGGTGCTTCCTGGGAGATGTAGTTTCCTGTGTATTGAAACCTGGACTGCTCGCTGGCCGGCAGCGCACCGTTTTGAAGGTCCTAGCCCACCTGGGCTGGCTCACGCGCACGACTAGCCGCTCCCATACAGCACGCCCGGACTCTGTCGTCGCTT)$ . 11CO031 ENSG00000257727.6 ENSG00000135473.15 -/- -/- chr12:56314851 chr12:56317643 CDS/splice-site CDS/splice-site duplication 2 2 0 1543 33 medium out-of-frame . TLR4_regulator_and_MIR-interacting_MSAP(100%)| . . ENSG00000257727.6 ENSG00000135473.15 ENST00000273308.9 ENST00000610546.4 upstream downstream . ^(AGGCGGTCGCCGGGACACCCCGTGTGTGGCAGGCGGCGAAGCGCTCTGGAGAATCCCGGACAGCCCTGCTCCCTGCAGCCAGGTGTAGTTTCGGGAGCCACTGGGGCCAAAGTGAGAGTCCAGCGGTCTTCCAGCGCTTGGGCCACGGCGGCGGCCCTGGGAGCAGAG___GTGGAGCGACCCCATTACGCTAAAGATGAAAGGCTGGGGTTGGCTGGCCCTGCTTCTGGGGGCCCTGCTGGGAACCGCCTGGGCTCGGAGGAGCCAGGATCTCCACTGTGGAG___CATGCA)GGGCTCTGGTGGATGAACTAGAATGGGAAATTGCCCAGGTGGACCCCAAGAAGACCATTCAGATGGGATCTTTCCGGATCAATCCAGATGGCAGCCAGTCAGTGGTGGAG|ATGCAGCTGTCTTCTCCTCAGTGCTGGCGCTCTGACTACCCTTCCCAAAGAACCACaGCCCTCTCCCTTTACTGTTCTATAGCCCCAGAACTGGGAGATGGCTTCCTAAGTTGGCTATACCTTGTCCACTTCCAGTACTGGACGTGCTCAGGGTCTAGGGTCACAGATGGTGCTATTAATTGAACTGG(AACACAGCAGAATTGTTGCAAAGGTTCTAGGAGCCAGATTCATTCCTTCTTCATTCTTTGCAAAACAGTGGTACAGACATGGAGTCTAGAATTGACCCAGATGGAAAGTAATTGGTATTCTTAATATCCTGGGTGACTAATATCCAGGCAGAGAAGCTCCTGGAACCATAACTGTAAGTTCCTAGCTGGCTAGGGATTGAAGTCCTGGACAGTGACAGAGGATACCACAGTAGTTCAAGACTTAGCACAAGTCACCAACTGCTTCAGGGATACCTGGAGGGGCCAGCAAGTAGAGTGTTGGTGGCCCAAGCAAACCAGTGTTGCCAATACCATTGCCAAAAGGGCCTTTGGATCCTGGACAAAGCTTGGCTGCCGGCTTCATTTATTCCTGCTGATGGCTGAGAAGCATCTGTCTTCCATCCCACTTGCCTGTCCCAAGTTTTGTTCCATTTTTTAAAAATTTGTTGTAAACTGCATGTTTTATAAAATAAAAATAAAATATCGTTTGTTATTTATCTCATTAGAGAACTGCTAGTGTGGGTTCTCTGGCTTCAGTCTTCCTCTCCTTCCTTTGAAGGTAAAGGTCCGGAATCCAAAGTTATGGATATGAAAGGGTATAATTAGGCCGGGCGCGGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGAACACGAGGTCAGGAGTTAAAGACCAGCCTGACCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGATGGCGACTGTAACCCTAGCTGAGGCAGAAAATTGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTATGCCAGCCTGGGCGATAGGGCGAGACTCCGTCTCAAAAAAAGGGGAAAAAGGTATAATTTATGCCTTTTCTGGGCAATGCTGGGTCTTTGCTATAGCTGCCCAGTACCCTAAGTCAGACTGAAGATGTACAGTATGGTTTCCGTTAATTGTGTAAGCCGACAAACTACAGGTCCCAGGATAGCTTGAGACTTGTAGTTGCTCACAAAGATGGGTCCGGTGCTGCGGTGCTTCCTGGGAGATGTAGTTTCCTGTGTATTGAAACCTGGACTGCTCGCTGGCCGGCAGCGCACCGTTTTGAAGGTCCTAGCCCACCTGGGCTGGCTCACGCGCACGACTAGCCGCTCCCATACAGCACGCCCGGACTCTGTCGTCGCTT)$ MKGWGWLALLLGALLGTAWARRSQDLHCGACRALVDELEWEIAQVDPKKTIQMGSFRINPDGSQSVVE|mqlsspqcwrsdypsqrttalslycsiapelgdgflswlylvhfqywtcsgsrvtdgain* 11CO032 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 28 15 0 58 69 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(4),low_entropy(1),mismatches(1) GGGCCGTGTTGGTTACTAGCCGGGCTGGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___ATTCATGAAAAAC(TACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO032 ENSG00000099204.20 ENSG00000267626.1 -/- -/+ chr10:114526660 chr19:35612609 5'UTR/splice-site intron translocation/5'-5' 13 14 0 127 50 high . . LIM_domain(100%)| . . ENSG00000099204.20 ENSG00000267626.1 ENST00000392952.7 . upstream upstream . ^(AAAGCGAGGAGAGGAGGCGTGAGAGAGCGTGCCTGCCCGCCGCACACGGGGCTGGTTT)CCGGAGTGCGTCTCTAGAGGGATGCACGTTGCCTTAGCCGAGCTTCGGAGAGAAGCCTGATATGTAACCCAGGCAGGTGGGAGCCTCAGTCTGTCGGGCTGAGGTCTGGCATCTACAAAGCCTCTTGGCCGTGTTCTGAACTTGAAGCCTGGAGGAGTTCTCTGCTCAGCACAGCCAAGGAACAGAATTAGAAGAAAAGGAACCCTGGCCTGAG|GAGACCcACCTGGGAAGAGTGAGCGCTGCAAGACCCAGCCTGACCGCGCTAAGATTACTATGCAGCGCCCGAGCCCGCTGTCTGCCCGGCAACCGATGACGTCACTGTTGGCGCGCCCGTGACGTCAGAGGCGGGCGCCACACTTGAAGAGGCTGAGGGAGGCG . 11CO032 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 12 0 23 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 mismatches(2) CTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...G?GTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO032 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 9 0 42 22 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGG)CTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO032 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 5 8 1 71 20 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream mismappers(1),mismatches(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGA)GCaCATGTCTTCaTCGAAGTGGCTGTGAtTGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCA MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFiEVAViGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO032 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 3 0 161 22 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___ATCTAATGAGGCGTCAAGAAGAACTCAGACG)CTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO032 ENSG00000099204.20 ENSG00000249115.9 -/- +/+ chr10:114526660 chr19:35612609 5'UTR/splice-site 5'UTR translocation 1 10 1 127 50 high . . LIM_domain(100%)|HAUS_augmin-like_complex_subunit_5(100%) . . ENSG00000099204.20 ENSG00000249115.9 ENST00000392952.7 ENST00000203166.10 upstream upstream . ^(AAAGCGAGGAGAGGAGGCGTGAGAGAGCGTGCCTGCCCGCCGCACACGGGGCTGGTTTCCGGAGTGCGTCTCTAGAGGGATGCACGTTGCCTTAGCCGA)GCTTCGGAGAGAAGCCTGATATGTAACCCAGGCAGGTGGGAGCCTCAGTCTGTCGGGCTGAGGTCTGGCATCTACAAAGCCTCTTGGCCGTGTTCTGAACTTGAAGCCTGGAGGAGTTCTCTGCTCAGCACAGCCAAGGAACAGAATTAGAAGAAAAGGAACCCTGGCCTGAG|GAGACCcACCTGGGAAGAGTGAGCGCTGCAAGACCCAGCCTGACCGCGCTAAGATTACTATGCAGCGCCCGAGCCCGCTGTCTGCCCGGCAACCGATGACGTCACTGTTGGCGCGCCCGTGACGTCAGAGGCGGGCGCCACACTTGAAGAGGCTGAGGGAGGCGGTGTCGCCGCCGCGGCGCTGTCATGGAGCTAGCGCAGGAAGCGCGGGAACTGGGTTGCTGGGCGGTCGAAGAGATGGGGGTGCCCGTGGCGGCCCGGGCCCCGGAATCGACGCTGCGCAG___GCTGTGTCTGGGCCAGGGGGCTGACATCTGG(GCCTACATCTTGCAGCATGTGCACAGTCAGAG___GACTGTCAAGAAGATCCGGGGAAACCTACTCTG___GTATGGCCACCAGGACAGTCCACAG___GTCCGTCGGAAGTTAGAGCTGGAAGCTGCTGTGACCCGCCTGCGGGCAGAAATCCAGGAACTCGACCAGAGCCTGGAGCTGATGGAGCGAGACACTGAGGCTCAGG___ACACGGCCATGGAGCAGGCACGTCAGCACACTCAAGACACCCAGCGTCGAGCTCTCCTCCTCCGGGCCCAAGCTGGGGCCATGCGAAGACAGCAGCATACGCTCCGAGATCCCATGCAGCGGCTGCAGAATCAACTGAGGCGCCTGCAGGACATGGAGAG___GAAAGCCAAAGTAGATGTGACCTTTGGATCCCTCACGTCGGCAGCTCTGGGCCTGGAGCCCGTGGTCCTG___CGTGATGTCCGAACAGCCTGCACCCTCCGGGCCCAGTTCCTGCAGAACCTCCTGCTTCCCCAGGCCAAGAGGGGCAGCCTCCC___AACCCCTCATGATGACCACTTTGGCACTTCGTACCAGCAGTGGCTGAGCTCAGTGGAG___ACGCTGCTGACAAACCACCCCCCAGGCCACGTCCTGGCTGCCTTGGAGCACCTGGCTGCAGAGCGGGAGGCAGAGATTCGGTCCCTGTGCAGTGGGGATGGGCTTGGCGACACAGAGATATCCAG___ACCCCAGGCCCCGGACCAGTCAGACTCCAGCCAGACCCTGCCGTCCATGGTTCATCTCATCCAG___GAGGGCTGGCGGACTGTGGGTGTGCTGGTCTCCCAGCGGAGCACCCTCCTGAAGGAGCGGCAAGTCTTGACCCAGCGCCTCCAGGGCCTGGTGGAGGAGGTGGAGAGACGCGTCCTGGGATCCAGTGAGAG___GCAGGTGCTGATACTGGGGCTTCGGCGCTGTTGCCTGTGGACGGAGCTCAAGGCCCTGCACGATCAGAGCCAGGAGCTGCAGGATGCAGCTGGGCATCGGCAGCTCCTGCTGAGGGAGCTACAGGCCAAACAGCAGCGGATCCTGCACTGGCGCCAGCTGGTG___GAGGAGACCCAGGAACAGGTCCGCCTGCTCATCAAGGGAAACTCGGCCAGCAAGACCCGCCTGTGCCGGAGCCCGGGGGAG___GTGCTAGCTCTGGTCCAGCGAAAGGTGGTCCCTACATTTGAGGCAGTGGCACCACAGAGCCGGGAGCTGCTGCGCTGTCTGGAGGAGGAAGTCCGGCATTTGCCCCACATTCTGTTGGGCACGCTGCTGCGGCACAGGCCGGGAGA___GTTGAAGCCCCTGCCCACGGTCCTCCCATCCATCCACCAGCTGCACCCCGCGTCCCCAAGGGGCTCCAGCTTCATAGCGCTGAGCCACAAGCTGGGGCTGCCTCCAGGGAAG___GCCTCGGAGCTGCTCCTGCCGGCGGCTGCCTCTCTTCGCCAGGACCTTCTGCTCCTGCAGGACCAGCGGAGCCTCTGGTGCTGGGATCTACTCCACATGAAGACCAGCCTGCCGCCAGGCCTTCCCACCCAGG___AGCTGCTGCAGATCCAGGCATCCCAGGAAAAACAGCAGAAAGAGAACCTGGGGCAGGCTCTGAAGAGGCTGGAGAAGCTACTGAAACAGGCACTGGAGCGAATCCCTGAGCTGCAGGGGATCGTGGGGGACTG___GTGGGAGCAGCCAGGCCAGGCCGCCCTCTCTGAGGAGCTCTGCCAGGGCCTGTCCCTGCCCCAGTGGCGGCTGCGCTGGGTTCAGGCCCAGGGGGCCCTGCAGAAGCTGTGCAGCTGAAGAGAGGGTTCAAACGGAAGCCGAGAACTTGACACTGTTCACCCCAACACCTCACCTCCCCCAGGACATTTGGAAGAAAGCAGCGCCAGGATTCCTCGGCAGTCGTCCCCACCCGCACCTGCAGTCCCCTCATGTGCTGTTCTGCTGCCCCACTCAGCTCCTGGACCCTGTCCTTTCATCCCGCTAAAGCACCCCCTAAAACCCCTTCATCACTTTCATTCTCAGCAAAAAGTAATTGAGCACCTCCTCTAGGCGCTGGGGAGTCCACACTGAACAAAAGAAACAGAAAACCCTGTCTTCCAGCAGTTGAGTTCTAGGGCAGGGAGACAGAGTTTACAAGATAAGGAAAATATATATGTAGTATGCTGCAAGTTAACTGCTGTGTGGGAAATCCAGCAGGGGGTGGGATGTGTGATTTGAATTGAGGGCCACACTGCCCAGGTCGTGCTCCGTCAAGGGGTGAGCAGGAGCAACAGGGGTGGCTGAGTAAGGGCTTGCAGCTGGAGGCAACAGCACATGCAAAGGCCCTGAGCCAGGATGTGCTGCAATAAGGGCCACTGAGGGGGACAGTGTAGGTTGGGGGTGAGGAATGTATTAAAAGATGAGATTGCCTTCTAGTTTGTATAGTTTCTTTTTTTACATGTAAATCAGCCATTTGGAATTTATCCTAGCACATGGATCCAATTTTGTCTTATTTTACATATATCCTAGTAGCACTTACTGAAATTCCCAGTCAGAGTGGCAGTTGCCTCTGAGGGAAGGTGGGTGGCAGGGATCAACTGAGGAGGAGACACAGAAATGTCCTAGCTGATGGGAATGTGCTGTGTCAAGAGCAGCGGCGGTGACGCAGGTGTAGAGATTTGTCAGAGCTCATGTAGTTGTAGTCTTAAGGCCTGTGCATTTCACTGCGTGGGTTACTCAATTTATAAAGCAAAGCCCTTACACTTTTGAGATGCCACCTTTTTATGCACTAAATTTCCATGTTTAATTGGGTTATATCTGGCTTCTCTCCAGACCTGCTTTGTATTTAACTCTCCATGTGTCATTCCTACAGTAGCTTAATAGAAAGGCTTGTGACACATTGTCATATCTGTTCTTGTTTTCTTTTGTTTTTTTTTTTTTTTTTTTTGAGATGCAGTCTCATTCTGTTGCCCAAGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCATGCCTCAGCTTCCCCAGTAGCTAGGATTACAGGTACGCACCACCACGCCCAGCTCATTTTTGTACTTTTAGTAGGGACGGGGTTTCATCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACCACATTGCCATATCTGAAATGGCTGGATTCTCTTAGGTGCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTGAGACAGAATCTGGCTGTTTCCCAGGCTGAAGTGCAGTGGCATGAACTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAACAATTCTCATGTCTCAGCCTCCTGAATAGCTGGGATTACAGGCACCCACCACCATATCTGGCTAATATTTGTATTTTTTGTAGAGTCGGAGCTTTACCATGTTGGTCAGGCTGCTCTCCAACTCCTGGCCTCAAGTGATTCTATCGCCTCTGCCTCCCAAATCTTCACCTGCTGGGATTAGTTTCCCCTGTCTCAGTAAATTTTTTTTCCCAAACTAAGTGAACATTAGATTTAATTTGGCTGGCCCCAGAAGAAAAACATGCACAGATGGTAGTTTTACTGGTGTTGCAGTAAGTTTTCAAATTTGGAAGTTTGGCAGCTTTATGATCTTGAACCTTGCTGTCCATCTCTCACACAACTCCTCTCTTGGCCTCCAGAGTCCCTTTACTCTCCCAGCTTTCCTCCTGCCCCTGGCTGCTGTTTCCCAGCCTTTCCACATTGGCTTTCCCATGTAGTCCTTAGTGTGTCTGCTCCTCCTCTCTCTCCTCATCACAGTTCCCAGCCCCCACCTTCAACTGAACTCAACAAAATCTTCAACTTCATACAGTAGTCACATTGTTAGTAATAACACTGGCATTTTTATTTTGATAAAATAGACCGTTTAAATTTTTGAGATTCTACCTTATATTTTTTGAATTATATACTAAAGCAAATAAGTAGTGATGTAATGTCATTGGGGACCAAGATTTTTAGTGTAAATGAAAAAAGATAACAAATATAAACTCAAGTAAACACCCTGTAGTCTTTCACATGAATTGGAAATATCAGAATAAAGTCATGATTTTTCTCTTTCTAAAAAA)$ . 11CO032 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 23 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) GCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAG(CCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO032 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 5 0 37 46 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(1),mismatches(1) GCCAACTACTCCGCACGCACTTTGACCAGCGGAGCAACCGGGACCTGTGGGTCGGGGTCCTCTGGCGGAGTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCgGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO032 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 20 16 0 50 96 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(2),inconsistently_clipped(1),mismappers(1),mismatches(1),multimappers(1) GTAGCGTTGCCATGGCGAGGGCCGGG?GCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCGAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTG(TGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 11CO032 ENSG00000142065.14 ENSG00000142065.14 -/- -/+ chr19:36360435 chr19:36358912 CDS/splice-site intron inversion/5'-5' 1 1 0 45 6 medium out-of-frame . KRAB_box(100%)| . . ENSG00000142065.14 ENSG00000142065.14 ENST00000270001.12 . upstream upstream . ^(AGTTCTTTCCGGCTTCGCTGCTGGTGTCGGCTCCGAGAG___CTCTGGCTTATCAGGACTCCATAGTTCTCCAACAGAGAAATCTTGAAAAGGACTGACCAGTTTTTGCAGTTCTAAAACCATGGCCCAT___GGTTCAGTGACATTCAGGGATGTGGCCATAGACTTCTCACAGGAAGAATGGGAATTCCTGGATCCTGCTCAGAGGGACTTATATAGGGATGTAAT)GTGGGAGAACTACAGCAACTTCATTTCACTAG___CAGGACCTTCCATTTCTAAACCAGATGTGATTACCTTATTGGATGAAGAAAGGAAGGAACCTGGGATGGTTGTGAGGGAAGGGACAAGAAGATACTGCCCTG|GATTGGGACTGATGACTTTATAAGAAGAAGAGAGGCCTCAACTAGCACATTTGCATGTTCAGCCCACTTGCCATTTGATGCCCTGCAAAGCCTCGGAATTCAGCAGAGTCCCCACCAGCAAGAAGGCCC MAHGSVTFRDVAIDFSQEEWEFLDPAQRDLYRDVMWENYSNFISLaGPSISKPDVITLLDEERKEPGMVVREGTRRYCP|glglmtl* 11CO033 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 12 0 35 40 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) GTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO033 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 27 24 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),inconsistently_clipped(2) AGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCAC(CCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO033 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 6 0 172 28 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___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACC)AAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO033 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 4 7 0 14 28 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),mismatches(2) GCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAG(ATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO033 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 6 5 0 110 21 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(3),mismatches(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCA)CGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO033 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 4 6 0 10 64 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(1) GGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGG(AATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO033 ENSG00000114767.7 ENSG00000041880.14(2653),ENSG00000280422.1(329) -/- ./- chr3:51933675 chr3:51951520 intron intergenic duplication 11 2 0 23 10 medium out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000114767.7 . ENST00000232888.7 . upstream downstream . ^(GAGTTCTGCGGCCGCTGCTACACGCCTGGTGGGCAGCATGTCGGCAACAGCGGCTGCTCGTAAGCGGGGAAAGCCGGCCTCTGGGGCCGGGGCTGGCGCGGGGGCCGGCAAGCGGCGGCGAAAG___GCCGACTCTGCGGGGGACAGGGGCAAATCCAAGGGTGGCGGCAAGATGAATGAGGAGATCTCCAGCGACTCTGAGAGCGAGAG___CCTAGCTCCAAGGAAGCCTGAGGAGGAGGAGGAGGAGGAGCTGGAGGAAACTGCACAGGAAAAGAAGCTGCGCTTGGCCAAGCTCTACCTAGAGCAGCTCCGTCAGCAAG___AGGAGGAGAAGGCTGAGGCCCGTGCATTTGAGGAGGACCAGGTGGCGGGGCGCCTGAAGGAGGATGTG___CTTGAGCAGAGGGGCAGGCTGCAGAAGTTGGTGGCAAAAGAG___ATCCAGGCCCCAGCCTCAGCTGACATTCGCGTTTTACGGGGGCACCAGCTCTCTATCACATGTTTGGTCGTCACCCCCGATGACTCAGCCATCTTCTCTGCTGCCAAAGACTGCAGCATCATTAAGT___GGAGCGTGGAGAGTGGACGGAAGCTGCATGTGATTCCTCGAGCCAAGAAGGGTGCCGAGGGAAAGCCCCCTGGCCACAGCAGCCACGTCCTCTGCATGGCCATCTCCTCCGACGGCAAGTACCTT___GCCTCTGGTGACCGCAGCAAGCTCATTCTCATTTGGGAGGCCCAGAGCTGCCAGCACTTGTACACCTTCACAGGACACCGGGATGCAGTGTCG___GGTCTGGCATTCCGCAGAGGCACCCACCAGCTCTACAGCACATCCCACGATCGCTCCGTGAAGGTGTGGAATGTGGCAGAGAACTCCTACGTGGAGACGCT___CTTCGGACACCAGGACGCTGTGGCTGCACTGGATGCCTTGAGCCGGGAGTGCTGTGTGACGGCTGGGGGCCGGGATGGGACTGTACGTGTGTGGAAGATCCCCGAGGAGTCCCAGCTTGTCTTCTATGGCCACCA___GGGCTCCATCGACTGCATCCACCTAATCAATGAGGAGCACATGGTGTCCGGCGCGGACGATGG___CTCTGTGGCCTTGTGGGGTCTCTCCAAGAAGCGACCACTTGCCCTGCAGCGTGAAGCTCACGGGCTGCGGGGAGAGCCAGGCCTGGAGCAGCCCTTCTGGATATCGTCGGTGG)CAGCCCTCCTCAACACAGACCTTGTGGCCACAG___GCTCCCACAGCTCCTGTGTGCGGCTTTGGCAGTGTGGGGAAGGCTTCCGGCAGCTTGACCTTCTCTGTGACATCCCCCTG___GTGGGTTTTATCAACAGCCTCAAGTTCTCCAGCTCTGGGGACTTCCTGGTGGCTGGGGTAGGGCAGGAGCACAGGTATGTGTGGCCCTCGAGGGTTCAGGTAAGGTG|TATTCAAACTGTTACTTTGACCATGGACCCTCAATCTAACGACAAAAAAAAAA?-TACTGAGTAAGATCAGATACATCTTGAGCTCTATTTAGAATGTTTGTTTTTCACAGGGTATGGGTATGGCAATTCTGAAACTCCTTTTTGTGCAGGATTGAGCAAATAAGTAGATATATTGATG MSATAAARKRGKPASGAGAGAGAGKRRRKADSAGDRGKSKGGGKMNEEISSDSESESLAPRKPEEEEEEELEETAQEKKLRLAKLYLEQLRQQEEEKAEARAFEEDQVAGRLKEDVLEQRGRLQKLVAKEIQAPASADIRVLRGHQLSITCLVVTPDDSAIFSAAKDCSIIKWSVESGRKLHVIPRAKKGAEGKPPGHSSHVLCMAISSDGKYLASGDRSKLILIWEAQSCQHLYTFTGHRDAVSGLAFRRGTHQLYSTSHDRSVKVWNVAENSYVETLFGHQDAVAALDALSRECCVTAGGRDGTVRVWKIPEESQLVFYGHQGSIDCIHLINEEHMVSGADDGSVALWGLSKKRPLALQREAHGLRGEPGLEQPFWISSVAALLNTDLVATGSHSSCVRLWQCGEGFRQLDLLCDIPLVGFINSLKFSSSGDFLVAGVGQEHryvwpsrvqvrc|iqtvtltmdpqsndkkk?te* 11CO033 ENSG00000034152.19 ENSG00000007541.17 +/+ +/+ chr17:21314927 chr16:578403 3'UTR CDS translocation 1 0 1 61 36 medium stop-codon . Protein_kinase_domain(100%)| . . ENSG00000034152.19 ENSG00000007541.17 ENST00000342679.9 ENST00000409527.6 downstream upstream . ^(AGTCTGTCTCCGGCGCCGCCCGTCGCGGACTCGTCCTTGCTGCAGTCGCCGCCGCAGTCCTCGCCGCAGTCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCTCCTCCGCCTGGCCTGGGCCGTCTGCCCGCAGCCATGAGCGTGCTCGGCCCCGGTGGAGCCCGCAGTCCTCTAGATTAGTCTCCACCGCCGTCCAGGACCCACTTGCAGCATGGAGTCGCCCGCCTCGAGCCAGCCCGCCAGCATGCCCCAGTCCAAAG___GAAAATCCAAGAGGAAGAAGGATCTACGGATATCCTGCATGTCCAAGCCACCCGCACCCAACCCCAC___ACCCCCCCGGAACCTGGACTCCCGGACCTTCATCACCATTGGAGACAGA___AACTTTGAGGTGGAGGCTGATGACTTGGTGACCATCTCAGAACTGGGCCGTGGAGCCTATGGGGTGGTAGAGAAGGTGCGGCACGCCCAGAGCGGCACCATCATGGCCGTGAAG___CGGATCCGGGCCACCGTGAACTCACAGGAGCAGAAGCGGCTGCTCATGGACCTGGACATCAACATGCGCACGGTCGACTGTTTCTACACTGTCACCTTCTACGGGGCACTATTCAGAGAG___GGAGACGTGTGGATCTGCATGGAGCTCATGGACACATCCTTGGACAAGTTCTACCGGAAGGTGCTGGATAAAAACATGACAATTCCAGAGGACATCCTTGGGGAGATTGCTGTGTCT___ATCGTGCGGGCCCTGGAGCATCTGCACAGCAAGCTGTCGGTGATCCACAGAG___ATGTGAAGCCCTCCAATGTCCTTATCAACAAGGAGGGCCATGTGAAGATGTGTGACTTTGGCATCAGTGGCTACTTGGTGGACTCTGTGGCCAAGACGATGGATGCCGGCTGCAAGCCCTACATGGCC___CCTGAGAGGATCAACCCAGAGCTGAACCAGAAGGGCTACAATGTCAAGTCCGACGTCTGGAGCCTGGGCATCACCATG___ATTGAGATGGCCATCCTGCGGTTCCCTTACGAGTCCTGGGGGACCCCGTTCCAGCAGCTGAAGCAGGTGGTGGAGGAGCCGTCCCCCCAGCTCCCAGCCGACCGTTTCTCCCCCGAGTTTGTGGACTTCACTGCTCAGTG___CCTGAGGAAGAACCCCGCAGAGCGTATGAGCTACCTGGAGCTGATG___GAGCACCCCTTCTTCACCTTGCACAAAACCAAGAAGACGGACATTGCTGCCTTCGTGAAGGAGATCCTGGGAGAAGACTCATAGGGGCTGGGCCTCGGACCCCACTCCGGCCCTCCAGAGCCCCACAGCCCCATCTGCGGGGGCAGTGCTCACCCACACCATAAGCTACTGCCATCCTGGCCCAGGGCATCTGGGAGGAACCGAGGGGGCTGCTCCCACCTGGCTCTGTGGCGAGCCATTTGTCCCAAGTGCCAAAGAAGCAGACCATTGGGGCTCCCAGCCAGGCCCTTGTCGGCCCCACCAGTGCCTCTCCCTGCTGCTCCTAGGACCCGTCTCCAGCTGCTGAGATCCTGGACTGAGGGGGCCTGGATGCCCCCTGTGGATGCTGCTGCCCCTGCACAGCAGGCTGCCAGTGCCTGGGTGGATGGGCCACCGCCTTGCCCAGCCTGGATGCCATCCAAGTTGTATATTTTTTTAATCTCTCGACTGAATGGACTTTGCACACTTTGGCCCAGGGTGGCCACACCTCTATCCCGGCTTTGGTGCGGGGTACACAAGAGGGGATGAGTTGTGTGAATACCCCAAGACTCCCATGAGGGAGATGCCATGAGCCGCCC)AAGGCCTTCCCCTGGCACTGGCAAACAGGGCCTCTGCGGAGCACACTGGCTCACCCAGTCCTGCCCGCCACCGTTATCGGTGTCATTCACCTTTCGTGTTTTTTTTAATTTATCCTCTGTTGATTTTTTCTTTTGCTTTATGGGTTTGGCTTGTTgTTCTTGCA|CTGCTGCAGTGGCTGATGGGTGCTCCCGCCGGGCTCAAGATGAACCGTGCACTGGACCAGGTGCTGGGCCGCTTCTTCCTCTACCACATCCACCTGTGGATCA___GCTACATCCACCTCATGTCCC(CCTTCGTGGAGCACATCCTTTGGCACGTGGGCCTCTCGGCCTGCCTGGGCCTGACGGTGGCCCTGTCCCTCCTCTCGGACATTATCGCCCTCCTCACCTTCCACATCTACTGCTTTTACGTCTATGGAGCCAG___GCTGTACTGCCTGAAGATCCATGGCCTGTCCTCACTGTGGCGTCTGTTCCGGGGGAAGAAGTGGAACGTTCTGCGCCAGCGCGTGGACTCCTGTTCCTATGACCTGGACCAG___CTGTTCATCGGGACTCTGCTCTTCACCATCCTGCTCTTCCTCCTGCCTACCACAGCCCTGTACTACCTGGTGTTCACCCTG___CTCCGGCTCCTGGTGGTCGCCGTGCAGGGCCTGATCCATCTGCTCGTGGACCTCATCAACTCCCTGCCGCTGTACTCACTGGGTCTTCGGCTCTGCCGGCCCTACAGGCTGGCGG___CTGGCGTGAAGTTCCGTGTCCTCCGGCACGAGGCCGGCAGGCCCCTCCGCCTCCTGATGCAG___ATAAACCCACTGCCCTACAGCCGCGTGGTGCACACCTACCGCCTCCCCAGCTGTGGCTGCCACCCCAAGCACTCCTGGGGCGCCCTGTGCCGCAAGCTGTTCCTTGGGGAGCTCATCTACCCCTGGAGGCAGAGAGGGGACAAGCAGGACTGA)$ . 11CO036 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 11 0 32 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(1),mismatches(1) GCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCC(TCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO036 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 7 0 32 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___)CTGAAATAACAGGAAtCACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO037 ENSG00000125977.7 ENSG00000078747.15 -/- +/- chr20:34105368 chr20:34444580 CDS/splice-site intron duplication/5'-5' 102 134 4 1619 391 high out-of-frame . . . . ENSG00000125977.7 ENSG00000078747.15 ENST00000374980.3 . upstream downstream duplicates(23),mismappers(57),mismatches(1) ^(GTCGTTTCCTTTCGCTGATGCAAGAGCCTAGTGCGGT)GGTGGGAGAGGTATCGGCAGGGGCAGCGCTGCCGCCGGGGCCTGGGGCTGACCCGTCTGACTTCCCGTCCGTGCCGAGCCCACTCGAGCCGCAGCCATGTCTGGGGACGAG___ATGATTTTTGATCCTACTATGAGCAAGAAGAAAAAGAAGAAGAAGAAGCCTTTTATGTTAGATGAGGAAGGGGATACCCAAACAGAGGAAACCCAGCCTTCAGAAACAAAAGAAGTGGAGCCAGAGCCAACTGAGGACAAGGATTTGGAAGCTGATGAAGAGGACACTAGGAAAAAAG|AGTTTCCCTCTTGTTGCCCAGACTGGATGGAGTGCAATGGCGCGATCTTGGCTCACCGCAACCTCTGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCATGCGTCATCACACTTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCGGCCCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACGCCCAGCCCACTTCCTATCATTTTAAATGGG MSGDEMIFDPTMSKKKKKKKKPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEEDTRKK|efpsccpdwmecngailahrnlclsgssdspasas* 11CO037 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 33 22 1 64 70 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(4),mismappers(3),mismatches(1) GAGGAGCTGGCCTTCCCTCCAGGAGTGATGGGAACCACTGGGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCaGAG(___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO037 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 11 9 0 55 30 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGA)GAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO037 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 5 0 180 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 . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGG)CGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO037 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 5 0 22 19 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520052.1 upstream downstream mismappers(1) AGAAGATATAACCGGATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAA(ATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO037 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 14 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCG(TCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO037 ENSG00000120896.13 ENSG00000254687.1 +/+ +/+ chr8:22564066 chr8:53221868 CDS intron deletion 5 2 0 24 4 medium out-of-frame . Sorbin_homologous_domain(100%)| . . ENSG00000120896.13 ENSG00000254687.1 ENST00000240123.11 . downstream upstream . ^(CGCGCGCGCCCCGACGGACGGAGAGCACTCGCACGTCCCTCCTCTCCGGCCCAGCCCCGGCCCGCAGTCCAGATCCGAGACCCAAACTCCGCCCGCCCCGCCGCGCGACTCTCACGGTCCGGCCTCCGGCGCGCGCCCCTTCGGCCTCCCTCTTCCTGCGCCGGCGCCCGGCCCGGCCCGGCCCGTCCTGACCCGGTCACGAGGGCCGCGACGGCCCGCGCTTCTCCTTGCCCTTCCTCCTCGAGCGCCCGCGCCAGGCAGCAGCCGGGCAGGGATGCTCCTGCGCTCCCGGGCGGCCTCGGGCCCAGCCACCTGCTCGCCGGGGAAG___AGGACACGCAGAGGAGCAGCTGGCTTGCCCGGAGTCCTCCCACCTTGACCCAAGCATGCAGGGCCCACCCCGCAGCCTCCGCGCTGGGCTCAGCCTGGACGACTTCATCCCTGGCCACCTCCAGTCCCACATAGGGTCTTCCTCCCGGGGGACACGG___GTGCCCGTGATCCGGAATGGTGGCTCCAACACCCTTAATTTCCAGTTCCACGACCCCGCGCCCAGGACTGTGTGCAATGGGGGCTACACACCAAGACGAGATGCTTCCCAGCACCCGG___ACCCTGCGTGGTATCAGACCTGGCCAGGCCCTGGGAGCAAGCCCTCTGCAAGCACAAAGATCCCTGCCTCCCAGCACACCCAGAACTGGTCAGCCACGTGGACCAAGGACAGCAAGCGTCGGGACAAGCGCTGGGTCAAGTACGAGGGAATCGGGCCCGTGGACGAGAGCGGCATGCCCATTGCCCCCCGATCC___AGCGTTGACAGACCCAGAGACTGGTACCGGAGAATGTTCCAGCAGATTCACCGGAAAATGCCAG___ACTTGCAGCTGGACT)GGACCTTCGAGGAGCCACCCAGAG___ACCCCAGGCATCTAGGAGCCCAGCAAAGACCTGCCCACAGGCCCGGCCCGGCAACATCTTCCAGTGG___AAGAAGCTGGGACCACTCTGAAGAGTTACCTAGAAGCACCTTCAACTACAGACCTGGAGCATTCTCCACTGTGCTGCAGC|TCATCATTTGAACACTGAATCTGCCCATATCCCTCATCTGAGACATCAGCTCCCTGAGCTTCACTGCAGGGGAAGCCCCATGACTTGTGAATCAGCAACGCTGTGCTCCCTCTTAGG MQGPPRSLRAGLSLDDFIPGHLQSHIGSSSRGTRVPVIRNGGSNTLNFQFHDPAPRTVCNGGYTPRRDASQHPDPAWYQTWPGPGSKPSASTKIPASQHTQNWSATWTKDSKRRDKRWVKYEGIGPVDESGMPIAPRSSVDRPRDWYRRMFQQIHRKMPDLQLDWTFEEPPRDPRHLGAQQRPAHRPGPATSSSGRSWDHSEELPRSTFNYRPGAFSTVLQ|lii* 11CO037 ENSG00000165637.13 ENSG00000269891.2 +/+ -/+ chr10:75222402 chr10:97259495 CDS/splice-site CDS deletion/5'-5' 3 0 0 633 17 medium out-of-frame . Eukaryotic_porin(100%)| . . ENSG00000165637.13 ENSG00000269891.2 ENST00000543351.5 . downstream upstream . ^(GGCAGTCCCAAAAAGCCTCTCAGGCACACAACCCAGCACAGCAAGGCAGTCACACCAAG___ATTCCCCTCTTCCCGCGGCCTCGCCATGGCGACCCACGGACAGACTTGCGCGCGTC___CAATGTGTATTCCTCCATCATATGCTGACCTTGGCAAAGCTGCCAGAGATATTTTCAACAAAGGATTTG___GTTTTGGGTTGGTGAAACTGGATGTGAAAACAAAGTCTTGCAGTGGCGTG___GAATTTTCAACGTCCGGTTCATCTAATACAGACACTGGTAAAGTTACTGGGACCTTGGAGACCAAATACAAGTGGTGTGAGTATGGTCTGACTTTCACAGAAAAGTGGAACACTGATAACACTCTGGGAACAGAAATCGCAATTGAAGACCAG___ATTTGTCAAGGTTTGAAACTGACATTTGATACTACCTTCTCACCAAACACAGG___AAAGAAAAGTGGTAAAATCAAGTCTTCTTACAAGAGGGAGTGTATAAACCTTGGTTGTGATGTTGACTTTGATTTTGCTGGACCTGCAATCCATGGTTCAGCTGTCTTTGGTTATGAGGGCTGGCTTGCTGGCTACCAGATGACCTTTGACAGTGCCAAATCAAAGCTGACAAGGAATAACTTTGCAGTGGGCTACAGGACTGGGGACTTCCAGCTACACACTAATGT___CAATGATGGGA)CAGAATTTGGAGGATCAATTTATCAGAAAGTTTGTGAAGATCTTGACACTTCAGTAAACCTTGCTTGGACATCAGGTACCAACTGCACTCGTTTTGGCATTGCAGCTAAATATCAGTTGGATCCCACTGCTTCCATTTCT|GAGATCAAGCAATAACTTCAGCAAATTACGATTAGGAGGAGGGAGAATGAGGAAGAGCAACTGG MATHGQTCARPMCIPPSYADLGKAARDIFNKGFGFGLVKLDVKTKSCSGVEFSTSGSSNTDTGKVTGTLETKYKWCEYGLTFTEKWNTDNTLGTEIAIEDQICQGLKLTFDTTFSPNTGKKSGKIKSSYKRECINLGCDVDFDFAGPAIHGSAVFGYEGWLAGYQMTFDSAKSKLTRNNFAVGYRTGDFQLHTNVNDGTEFGGSIYQKVCEDLDTSVNLAWTSGTNCTRFGIAAKYQLDPTASIS|eikq* 11CO037 ENSG00000165637.13 ENSG00000213390.11 +/+ -/+ chr10:75222402 chr10:97259495 CDS/splice-site CDS deletion/5'-5' 3 0 0 633 17 medium out-of-frame . Eukaryotic_porin(100%)| . . ENSG00000165637.13 ENSG00000213390.11 ENST00000543351.5 . downstream upstream . ^(GGCAGTCCCAAAAAGCCTCTCAGGCACACAACCCAGCACAGCAAGGCAGTCACACCAAG___ATTCCCCTCTTCCCGCGGCCTCGCCATGGCGACCCACGGACAGACTTGCGCGCGTC___CAATGTGTATTCCTCCATCATATGCTGACCTTGGCAAAGCTGCCAGAGATATTTTCAACAAAGGATTTG___GTTTTGGGTTGGTGAAACTGGATGTGAAAACAAAGTCTTGCAGTGGCGTG___GAATTTTCAACGTCCGGTTCATCTAATACAGACACTGGTAAAGTTACTGGGACCTTGGAGACCAAATACAAGTGGTGTGAGTATGGTCTGACTTTCACAGAAAAGTGGAACACTGATAACACTCTGGGAACAGAAATCGCAATTGAAGACCAG___ATTTGTCAAGGTTTGAAACTGACATTTGATACTACCTTCTCACCAAACACAGG___AAAGAAAAGTGGTAAAATCAAGTCTTCTTACAAGAGGGAGTGTATAAACCTTGGTTGTGATGTTGACTTTGATTTTGCTGGACCTGCAATCCATGGTTCAGCTGTCTTTGGTTATGAGGGCTGGCTTGCTGGCTACCAGATGACCTTTGACAGTGCCAAATCAAAGCTGACAAGGAATAACTTTGCAGTGGGCTACAGGACTGGGGACTTCCAGCTACACACTAATGT___CAATGATGGGA)CAGAATTTGGAGGATCAATTTATCAGAAAGTTTGTGAAGATCTTGACACTTCAGTAAACCTTGCTTGGACATCAGGTACCAACTGCACTCGTTTTGGCATTGCAGCTAAATATCAGTTGGATCCCACTGCTTCCATTTCT|GAGATCAAGCAATAACTTCAGCAAATTACGATTAGGAGGAGGGAGAATGAGGAAGAGCAACTGG MATHGQTCARPMCIPPSYADLGKAARDIFNKGFGFGLVKLDVKTKSCSGVEFSTSGSSNTDTGKVTGTLETKYKWCEYGLTFTEKWNTDNTLGTEIAIEDQICQGLKLTFDTTFSPNTGKKSGKIKSSYKRECINLGCDVDFDFAGPAIHGSAVFGYEGWLAGYQMTFDSAKSKLTRNNFAVGYRTGDFQLHTNVNDGTEFGGSIYQKVCEDLDTSVNLAWTSGTNCTRFGIAAKYQLDPTASIS|eikq* 11CO037 ENSG00000104490.18 ENSG00000253756.1(471108),ENSG00000104447.12(145459) -/- ./+ chr8:101915809 chr8:115263037 5'UTR/splice-site intergenic inversion 0 2 0 13 2 medium . . . . . ENSG00000104490.18 . ENST00000395923.5 . upstream upstream . ^(AGGGGCCCCTTAGATGTCTTCCTCCGGATTTTTTGTTAAGCTTTTCCTAGACAGTTTACAGAAGGCTTTGGGTAGAGAAAGCACTAGTTAGACAAAAGCAGCCCCCCTCCCACCTTGTGGGCATGAAGAGTCCAGAGGACACCACCTGAGAAGCTTTTCAACTGCCTTCCAAGGCTCCCTTGAACTTCACTGCGGTAGAGCAGGGACCCCAGACCCCCCCTCAAATCGAAGCTTGGAAGGAGGTGCTCTAGGCTGAATCTGACCTCCCAGGACCCGAGGAGGCAAGCAGATGGCACCCCTTGGAAAGTAGCAGTGCAGGCTGGCTAGAGGCCTGGGCG___AGTGATTTCTTCTGACTTGAGCCTGCAGTGTGCTGTGAGAGATCTACCACTAG___ATTATCTCAACTTTGGTCT)CCTGGGACCACTCGTTGCTGACAGTCAGAAA|CTCTGAAATGCATGGGAATGAGAAGCCTCCTCCTTCCACGCTTCCCTGCTCTGGTTTGTTTAAAGCTTCCCTCATCATCT . 11CO037 ENSG00000140386.13 ENSG00000260660.4 -/- -/- chr15:76905299 chr15:75232518 5'UTR/splice-site exon deletion 0 2 0 12 3 medium . . . . . ENSG00000140386.13 ENSG00000260660.4 ENST00000563290.6 ENST00000637356.2 upstream downstream . ^(G)GGACGCTTTGAGCCGCCCCGAACTAAGCAGGGCGGTCGGGG|GACTCAGTCTCCTCTACCCCAGGACCCAGTCACATGACGCGCTCCGTGACCTTCACAATCACCAATGAAGCCTTCTCGGCTGCACTCTTGAACCCTGCCTCCTGGAAGCACCAGCTGCTGCGTAAGATCATCCACCACCAG___CTCCAGCCCCTCTACCACGAGGC(CTTCCCCGGCTTCCAGGGCATCGGTGTCCTGGTCTTCAG___GCCTGGCTCTGTAGCGGTGAACGCCTCCCTTGTATTTGGGGGCCGTGCCCCAGGCCCCTCTCCCTGTGAACTCCTCTGGGCTTTGTATCGCAAAGTGAAGACCTCAGGGCACATGCTGGGGAACCTCTCATTGGCTGAGAACAGCCTCACCTCTGATG___GGGCCGACTTGATCACCCTGGCCCGGGAGACCATCAGCATCCGCTTCACAGCCATGAGGTCCTTCCTGCCGCAGCTCCTCGTACCGGGTTCTGTTTCCTTTGTCCTGCTGGAAAGGCAGATCCTCCAACAG___GTCACACCGGTGGTGTCAGGATTCTACAAGGCGAGTCCCCAGGAGAGGCCCCTGCTCCTCTTCAG___CAATGCGGACCAGTGGGTGGGTGTTTATATCGAATACAAGTTCCAGACTCCCATCACTACCCACCTCCAAGGCCTGGCTAATCACTTGGCCCAAAACATAACAGATCCCATCCTCCAGAAATCCAGCATCGTGGCCAATG___GGGAGAAGGCAGAGCTGGTGCTGTATGAAGTTTGGCTGCAGATCCTGGTCCAGCCCTACACCAAGGCTTTGGAGGACAAAACCAGCCCTGAGTTCTGGGCACTTCAAGGGCAGCTGACGAGATGG___CTGAACTTCATCCTCAGACCTCTGCAGAACTTTGACCAAGTGGTGGTGGAGGAATTCCC___GCCGGAGCCACTGACTGCCAGAATGGGTGCCACCTTCTTCAGGGCGGCGCCAGCCCAGGCTCTCATGTGGGACCGTTTGCGCCAGGGTCTGCACACCCTGGGGAAGGCAGAGGGCCTCTTGGTGGAGATGGTCATCCCAGACCTCG)$ . 11CO037 ENSG00000164830.18 ENSG00000169946.14 +/+ +/+ chr8:106742317 chr8:105634246 CDS/splice-site CDS/splice-site duplication 1 1 0 242 5 medium in-frame . LysM_domain(100%),TLD(100%)|Zinc-finger_of_C2H2_type(100%) . . ENSG00000164830.18 ENSG00000169946.14 ENST00000517566.6 ENST00000407775.7 downstream upstream . ^(GTCCTCTCAAACTGTGAGTAACTAAGTGGTTTGTGCATCATTCCAGAAGCAAAGCTAAAATTTTTAGCGGTGTTGTCGACTTGACCTGCTAATTTCCTGTTCTGGAATCGAGAGAAGACTCCTCAACAAGTTGCTGCAATGTCTGTGTCTAATCTATCATG___GCTGAAGAAAAAGTCCCAGTCGGTGGATATTAATGCTCCAGGGTTCAACCCTTTGGCTGGTGCAGGAAAGCAAACACCACAAGCCAGTAAGCCCCCGGCACCCAAGACCCCCATCATTGAAGAAGAGCAGAACAATGCAGCAAATACTCAGAAACATCCTTCCAGAAGGAGCGAACTGAAGAGGTTCTACACAATTG___ACACTGGCCAAAAGAAGACCCTAGACAAGAAAGATGGAAGACGAATGTCTTTTCAGAAACCTAAAGGGACTATTGAGTATACT___GTTGAATCAAGGGATTCTTTGAATAGCATAGCCCTGAAGTTTGATACAACACCTAACGAACTTGTTCAATTAAATAAGTTATTCTCCCGAGCAGTTGTTACTGGACAG___GTTCTGTATGTTCCTGATCCTGAATATGTCTCCAGTGTTGAGAGCTCTCCATCTCTAAGCCCCGTAAGTCCTCTGTCACCAACATCATCTGAGGCTGAATTTGATAAGACCACT___AATCCTGATGTCCATCCAACAGAAGCAACTCCCTCATCTACTTTCACTGGTATTCGACCTGCACGAGTTGTATCTTCAACTTCTGAGGAGGAGGAAGCATTTACTGAGAAATTTCTTAAAATTAATTGCAAATATATTACCAGTGGCAAG___GGCACAGTCAGTGGTGTGCTGCTAGTTACACCAAATAATATAATGTTTGATCCACATAAAAATGACCCTTTGGTTCAAGAGAATGGCTGTGAGGAATATGGCATCATGTGTCCAATGGAAGAGGTGATGTCAGCTGCAATGTACAAAGAAATTTTGGATAGCAAAATAAAGGAATCTTTACCCAT___AGATATAGATCAGCTATCAGGAAGGGACTTCTGCCATTCAAAGAAAATGACAGGAAGTAACACTGAGGAAATAGACTCAAGAATCCGAGATGCAGGTAATGATAGTGCCAGCACTGCTCCTAGGAGCACTGAGGAGTCTCTTTCTGAAGATGTGTTCACAGAATCAGAACTTTCCCCTATACGAGAGGAGCTTGTATCTTCAGATGAACTGCGACAAGATAAATCTTCTGGTGCGTCATCAGAATCTGTGCAAACTGTCAATCAGGCTGAAGTAGAAAGTCTGACAGTCAAATCAGAATCTACTGGTACTCCTGGTCACTTAAGATCTGATACTGAACATTCTACAAATGAAGTTGGGACTTTATGTCATAAAACTGATTTAAATAATCTTGAAATGGCCATTAAGGAAGATCAGATTGCAGATAACTTTCAAGGAATATCAGGTCCTAAAGAAGACAGCACAAGTATAAAAGGTAATTCAGACCAGGATTCTTTTCTTCATGAGAATTCGTTACACCAAGAAGAGAGTCAAAAAGAAAATATGCCTTGTGGGGAAACAGCAGAATTTAAACAAAAGCAAAGTGTTAACAAAGGAAAACAAGGAAAGGAGCAAAATCAGGACTCACAGACAGAGGCAGAAGAGCTACGCAAACTTTGGAAAACCCATACTATGCAACAAACTAAACAGCAAAGGGAAAATATTCAACAAGTGTCACAAAAAGAAGCTAAGCATAAAATTACATCTGCTGATGGACACATAGAAA___GTTCTGCACTTTTAAAAGAAAAGCAAAGGCATCGATTACATAAGTTCTTGTGTCTCAGAGTTGGAAAACCAATGAGGAAAACGTTTGTATCTCAAGCAAGTGCTACAATGCAACAGTATGCACAGAGAGATAAGAAACATGAATATTGGTTTGCTGTGCCACAAGAAAG___GACAGATCACTTGTATGCCTTCTTCATTCAGTGGAGTCCAGAAATATATGCAGAAGATACTGGCGAATATACCAGAGAACCTGGATTTATAGTAGTAAAAAAGATTGAGGAGTCTGAAACAATTGAGGATTCTAGTAATCAAGCAGCAGCCAGAGAATGGGAG___GTAGTGTCAGTGGCTGAGTATCACCGCAGGATCGATGCTCTAAATACTGAAGAACTGCGCACACTCTGCAGACGCCTCCAG___ATTACTACAAGGGAAGACATAAATTCAAAGCAGGTTGCTACAGTGAAAGCAGACCTGGAGTCTGAATCTTTTCGACCAAACCTAAGTGATCCCAGTGAACTTTTACTGCCAGATCAAATTGAAAAG___CTTACCAAGCATCTTCCACCAAGAACAATTGGCTATCCATGGACTCTTGTTTATGGTACTGGAAAACATGGCACAAGCTTGAAAACTCTTTATCGAACAATGACAGGTTTAGACACCCCAGTGCTGATGGTGATTAAAGACAGTGATGGA)CAG___GTTTTTGGTGCGTTAGCATCTGAGCCACTGAAAGTGAGTGATGGCTTTTATGGTACTGGAGAGACCTTTGTTTTTACATTCTGTCCGGAGTTTGAG|AAGACAAAGGCTCAGGTCCCAATGGTGCTGACTGCTGGTCCCAAGTGGT?GCTGGATGTGACTTGGCAAGGAGTGGAAGACAACAAAAACAACTGCATTGTGTACAGCAAAG(___GGGGTCAGCTTTGGTGTACAACTACGAAGGCCATCTCTGAGGGTGAAGAGCTAATTGCCTTTGTGGTGGATTTTGACTCAAGGCTACAAGCTGCCAGTCAGATGACTCTCACAGAAGGGATGTACCCTGCACGCCTGCTGGACTCAATTCAGCTGCTTCCTCAGCAAGCTGCCATGGCTTCTATTTTGCCCACAGCTATTGTCAATA___AGGATATATTCCCTTGCAAGTCCTGTGGCATCTGGTATCGGAGTGAGCGGAATCTGCAGGCCCATTTGATGTACTACTGCAGTGGGAGGCAAAGAGAAGCTGCTCCGGTGTCAGAGGAAAATGAAGACAGTGCCCATCAGATTTCCAGCCTGTGCCCCTTCCCACAGTGCACCAAGAGCTTTTCAAATGCTCGAGCTCTAGAAATGCACCTGAATTCACACAGTG___GAGTGAAAATGGAAGAATTCCTGCCCCCTGGTGCTAGTCTAAAATGCACCGTCTGTAGCTACACTGCTGATTCCGTGATCAACTTTCACCAACACCTGTTCTCCCATCTCACTCAAGCTGCCTTCCGATGTAATCACTGCCATTTCGGCTTCCAGACTCAGAGGGAGTTATTGCAGCACCAGGAGCTCCATGTCCCTAGCGGCAAACTTCCCAGAGAAAGTGACATGGAACACTCTCCAAGTGCAACTGAAGACAGCTTACAGCCAGCCACAGACTTATTGACCAGAAGCGAACTTCCCCAGAGCCAAAAGGCCATGCAGACTAAAGATGCGAGCTCTGACACAGAGCTGGACAAGTGTGAGAAAAAGACTCAGCTCTTTCTCACGAACCAGAGACCAGAGATACAGCCTACAACAAATAAACAAAGCTTTTCTTACACAAAAATAAAGTCTGAGCCCTCTAGCCCAAGACTTGCCTCATCTCCAGTTCAGCCTAATATTGGGCCTTCTTTCCCTGTGGGCCCTTTCCTATCTCAGTTTTCTTTCCCCCAAGATATCACCATGGTCCCTCAAGCTTCAGAGATCTTAGCTAAGATGTCTGAACTGGTGCATCGGCGACTGAGGCATGGCAGTAGTAGCTACCCTCCCGTCATTTACAGCCCTTTGATGCCCAAGGGGGCTACTTGTTTTGAGTGTAACATAACATTCAATAATTTGGATAATTATCTAGTGCACAAAAAGCATTATTGCAGCAGCCGATGGCAGCAGATGGCTAAGTCCCCAGAGTTCCCTAGTGTGTCAGAAAAGATGCCTGAAGCTTTGAGTCCCAACACTGGCCAAACCTCCATAAACCTTCTCAACCCAGCTGCTCATTCTGCTGATCCTGAGAATCCACTTCTTCAAACATCTTGCATCAATTCTTCCACTGTCTTAGATTTAATTGGGCCAAATGGGAAGGGCCATGACAAGGACTTTTCCACTCAAACTAAGAAGCTCTCCACCTCCAGTAACAATGATGACAAAATTAATGGAAAACCTGTTGATGTGAAAAATCCCAGTGTCCCCTTAGTGGATGGGGAAAGTGACCCAAATAAGACTACCTGTGAAGCTTGCAACATTACCTTCAGCCGGCACGAAACATACATGGTCCACAAACAGTATTACTGTGCTACACGCCACGACCCTCCACTGAAGAGGTCTGCTTCCAACAAAGTGCCTGCCATGCAGAGAACCATGCGCACACGCAAGCGCAGAAAGATGTATGAGATGTGCCTACCTGAGCAGGAACAAAGGCCTCCACTGGTTCAGCAGAGATTTCTTGACGTAGCCAACCTCAATAATCCTTGTACCTCCACTCAAGAACCCACAGAAGGGCTAGGAGAGTGCTACCACCCAAGATGTGATATCTTTCCAGGAATTGTCTCTAAACACTTGGAAACTTCTCTGACGATCAACAAGTGTGTTCCAGTTTCCAAATGTGATACTACTCATTCCAGTGTTTCCTGCCTAGAGATGGACGTGCCCATAGATCTCAGCAAAAAGTGTTTATCTCAGTCTGAGCGGACGACCACGTCTCCCAAAAGGCTGCTGGACTATCACGAGTGCACTGTGTGCAAGATCAGTTTCAATAAGGTAGAAAACTATCTGGCCCACAAGCAGAATTTCTGCCCGGTTACTGCACATCAGCGTAATGACCTGGGTCAACTGGACGGCAAAGTGTTTCCGAATCCAGAAAGCGAACGAAACAGCCCTGATGTCAGCTACGAAAGAAGCATAATAAAATGTGAGAAAAATGGGAATTTGAAGCAGCCTTCCCCCAATGGAAACTTATTTTCATCCCACCTAGCAACCCTGCAAGGCTTGAAGGTCTTTAGTGAAGCTGCTCAGCTCATTGCTACAAAAGAAGAAAACAGACATTTGTTTCTTCCACAATGCCTTTACCCTGGAGCAATAAAGAAAGCAAAAGGAGCCGACCAGCTTTCTCCATATTATGGAATCAAGCCAAGTGATTATATTTCTGGTTCTCTTGTCATCCATAACACTGACATCGAGCAAAGCAGAAATGCAGAAAATGAATCTCCTAAAGGCCAGGCTTCCTCAAATGGGTGTGCTGCGCTGAAGAAAGATTCTCTGCCATTGTTGCCCAAAAATCGAGGAATGGTAATAGTGAATGGTGGACTGAAACAAGATGAGAGACCTGCTGCCAACCCACAGCAAGAGAACATTTCCCAGAATCCTCAGCACGAAGACGACCACAAATCTCCCTCGTGGATCTCTGAGAACCCATTAGCTGCCAATGAGAATGTCTCACCAGGAATTCCCTCAGCAGAGGAACAGTTGTCTAGTATAGCAAAAGGTGTGAATGGTTCCAGCCAGGCTCCAACCAGTGGGAAATATTGCCGGCTATGTGATATCCAGTTCAACAACCTTTCAAACTTTATAACTCACAAGAAGTTTTATTGCTCATCACATGCAGCAGAACATGTCAAATGAACTAACTAAACATCAGTCACCTTTGGTATCAGTGTTTAGTATGTTGTTCTAACCAGTCCAGAAAAAAAAATAAGCTGTTTGAATTACATCTGGGCAATCAGGAGATAATTCATTATGGCTGAGTTGAAGACTTAAGGTGTAATTTCATTACAGTCCATTAGTAAAGTGTATTATTGGTGCCATTTTCAAAAAAATTAATTTATTTTACCAGCAGTATTCATAGCTGTGGTTATGTTATTTTTTATTTAAAAACTTTATATTAAAGTCATTTGTAATGTTATTGTATAGTTATTGTGTAGCACATATGGTTTGCACTGTATAGTAGCTTTTAAAGAAAATAGTCACAATACAGAAAAGCATTTTAGAAATAGCTTCAAAAGCACTTGTGTATCTTGATTTTTTCTTATATGCTGTTGCAGATATATGTATATGCTAAAATATAACTTGCAAAGATGTTCTAAATACACATGCTATAAGTTCGCCTTAAGATTTCAATTCTTGGATAATCAGGCTCTGTTTGCACTTTATATTTTAGCAGATACAGTCTCTTAGTCACTAGGCTTTGCATTTGTATGTAGCTGTATGTTTCCGTCCATTTTCTTAATCCTGAACCTGTATGTTAAATGAAGATGGCAATTTTTTTCTTGTATAGTACTTGTATTTTCTTTCGCTGATGCAGCTCTGTCTCAATTTTTAAACCTTTGCTGTTAAATGCAATACTTTATAAAGAATGAACAAAATTACTGGAAGCAGTATTGTAAGTAATGAGGTAGTATTAATCAGTTTTATCTTTTGAAAGGCACAGTCTAAATCGAAACCCTAAACTCAATGCTGCAAGTATGAATTTAATTCATATATAAGATCTATTTAAATATAAGAGTAGCAATACTGCACCTGGTGATCACAAAGATAATGTTCTACTTCTGATAGAAATAATTTCTCAACAAATGTTGTTACTATGCATGTATATGGATGGAATAAAATTCCAGATTGTTGGAGAA)$ MSVSNLSWLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQKHPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVESRDSLNSIALKFDTTPNELVQLNKLFSRAVVTGQVLYVPDPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDVHPTEATPSSTFTGIRPARVVSSTSEEEEAFTEKFLKINCKYITSGKGTVSGVLLVTPNNIMFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCHSKKMTGSNTEEIDSRIRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQDKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEMAIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQKQSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQVSQKEAKHKITSADGHIESSALLKEKQRHRLHKFLCLRVGKPMRKTFVSQASATMQQYAQRDKKHEYWFAVPQERTDHLYAFFIQWSPEIYAEDTGEYTREPGFIVVKKIEESETIEDSSNQAAAREWEVVSVAEYHRRIDALNTEELRTLCRRLQITTREDINSKQVATVKADLESESFRPNLSDPSELLLPDQIEKLTKHLPPRTIGYPWTLVYGTGKHGTSLKTLYRTMTGLDTPVLMVIKDSDGQVFGALASEPLKVSDGFYGTGETFVFTFCPEFE|KTKAQVPMVLTAGPKW?LDVTWQGVEDNKNNCIVYSKGGQLWCTTTKAISEGEELIAFVVDFDSRLQAASQMTLTEGMYPARLLDSIQLLPQQAAMASILPTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREAAPVSEENEDSAHQISSLCPFPQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINFHQHLFSHLTQAAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSELPQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLASSPVQPNIGPSFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIYSPLMPKGATCFECNITFNNLDNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTGQTSINLLNPAAHSADPENPLLQTSCINSSTVLDLIGPNGKGHDKDFSTQTKKLSTSSNNDDKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHETYMVHKQYYCATRHDPPLKRSASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPCTSTQEPTEGLGECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQSERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPESERNSPDVSYERSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRHLFLPQCLYPGAIKKAKGADQLSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQASSNGCAALKKDSLPLLPKNRGMVIVNGGLKQDERPAANPQQENISQNPQHEDDHKSPSWISENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKYCRLCDIQFNNLSNFITHKKFYCSSHAAEHVK* 11CO039 ENSG00000101384.12 ENSG00000124198.9 -/- +/- chr20:10656398 chr20:48969847 CDS/splice-site intron duplication/5'-5' 20 20 0 80 45 high out-of-frame . Delta_serrate_ligand(100%),N_terminus_of_Notch_ligand(100%)| . . ENSG00000101384.12 ENSG00000124198.9 ENST00000254958.10 . upstream downstream duplicates(3) ^(AGACGGGCTCTCCGGGTCCTTCTCCGAGAGCCGGGCGGGCACGCGTCATTGTGTTACCTGCGGCCGGCCCGCGAGCTAGGCTGGTTTTTTTTTTTCTCCCCTCCCTCCCCCCTTTTTCCATGCAGCTGATCTAAAAGGGAATAAAAGGCTGCGCATAATCATAATAATAAAAGAAGGGGAGCGCGAGAGAAGGAAAGAAAGCCGGGAGGTGGAAGAGGAGGGGGAGCGTCTCAAAGAAGCGATCAGAATAATAAAAGGAGGCCGGGCTCTTTGCCTTCTGGAACGGGCCGCTCTTGAAAGGGCTTTTGAAAAGTGGTGTTGTTTTCCAGTCGTGCATGCTCCAATCGGCGGAGTATATTAGAGCCGGGACGCGGCGGCCGCAGGGGCAGCGGCGACGGCAGCACCGGCGGCAGCACCAGCGCGAACAGCAGCGGCGGCGTCCCGAGTGCCCGCGGCGCGCGGCGCAGCGATGCGTTCCCCACGGACGCGCGGCCGGTCCGGGCGCCCCCTAAGCCTCCTGCTCGCCCTGCTCTGTGCCCTGCGAGCCAAG___GTGTGTGGGGCCTCGGGTCAGTTCGAGTTGGAGATCCTGTCCATGCAGAACGTGAACGGGGAGCTGCAGAACGGGAACTGCTGCGGCGGCGCCCGGAACCCGGGAGACCGCAAGTGCACCCGCGACGAGTGTGACACATACTTCAAAGTGTGCCTCAAGGAGTATCAGTCCCGCGTCACGGCCGGGGGGCCCTGCAGCTTCGGCTCAGGGTCCACGCCTGTCATCGGGGGCAACACCTTCAACCTCAAGGCCAGCCGCGGCAACGACCGCAACCGCATCGTGCTGCCTTTCAGTTTCGCCTGGCCG___AGGTCCTATACGTTGCTTGTGGAGG)CGTGGGATTCCAGTAATGACACCGTTC___AACCTGACAGTATTATTGAAAAGGCTTCTCACTCGGGCATGATCAACCCCAGCCGGCAGTGGCAGACGCTGAAGCAGAACACGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGATGACTACTACTATGGCTTTGGCTGtAATAAGTTCTGCCGCCCCAGAGATGACTTCTTTGGACACTATGCCTGTGACCAGAATGGCAACAAAACTTGCATGGAAGGCTGGATGGGCCCCGAATGTAACAGAG___CTATTTGCCGACAAGGCTGCAGTCCTAAGCATGGGTCTTGCAAACTCCCAGGTGACTGCAG|ATGAGGCTTGGCAAGTCATATAGCCAAGGAACTGCTCTCAAGTGGAGGATCCAAGATCTAAATGCAGCTCTCTCTGGCTCTGAAGCCTCTGCTTTCTTCACTCCACAGCGCTGACATCCTTGTAGTAGTTTGTTTACTACAAAGAAATGTTTGGCTTCCCTGTGTCGAATCTGGGGCTTACATCTGTATCGATGAAGCAGAGGTTTCCAACAGAACAGGGAACTGAGGTTTGCAGGCATCCTGTCCCTCCACACCCCACATCAAGAGATTCAATCCACTAG MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCr|* 11CO039 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 17 0 37 49 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) CTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO039 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 6 8 1 22 18 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(1),mismappers(1) TGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGA(GAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO039 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 5 9 0 13 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 low_entropy(1) CCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCA(TGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO039 ENSG00000132669.13 ENSG00000230990.2(11635),ENSG00000235544.1(32223) +/+ ./- chr20:19889658 chr20:11313160 CDS/splice-site intergenic inversion 5 9 0 84 15 high out-of-frame . . . . ENSG00000132669.13 . ENST00000255006.11 . downstream downstream duplicates(1) ^(CTTTCAGTGGTGTTGTTGAAAGGGCTTGGCAGCTCCCAAATGTTTGCAGTGTCCTTAGTCCTATGAGGGCTGCCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTGCTAGCTTTTAGCTAGTATCTGGAAACATCTACTGGACATGTTGGACTCATTTTCTCAAGAATCCACTTTACCCTTCAGGGAAGCCAGGAAAAGAACAAGCTTCCAACCGGTACAAGTCTGGAGGAATTTCACAGCCTCTC)AAACTACG___GAGTCCCCGGCGTGCAGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GAGGAACCTTGAAACAGTAAGGAATTCAGCTTCATATATCAGAGAAGAAATAAATTTCAAGAGAGCCAGCATTCTACCTTCGGGCAAGAAGATTTTATTCCCATTTGGCAGATGGAATAGCTGAGGTCCAGGAAAGTTAAATATCTTGGTGTCAATGTCTCCAGTCATGTAAATGGTGGAAGCTTTTTTTTTAATTCAGTACTATCACATATAACATACC MLDSFSQESTLPFREARKRTSFQPVQVWRNFTASQTTESPACSGASLGEMTAWTMGARGLDKRGSFFK|eep* 11CO039 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 10 0 20 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),inconsistently_clipped(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAAC(TCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO039 ENSG00000197134.13 ENSG00000268278.1 +/+ +/- chr19:22052635 chr19:21640621 CDS/splice-site intron inversion/3'-3' 9 4 0 50 15 high out-of-frame . . . . ENSG00000197134.13 ENSG00000268278.1 ENST00000594947.6 . downstream downstream . ^(ACTTTGTCTCTCGCTCTAGCCCGAGCTGCAG)GTCTCGTCTTCCCTGGTCTGTGTCCTCTTCTCCTAGGGGCCCAGCCTCTGTGGCCCTGTGACCTGCAGGTATTGGGAGATCCCCAGCTAAGACGCCAGGTCCTCCTGGAAGCCTAGAAATG|AGCATCACTTGAACCcGGGAGGCGGAGGTTGCTGTGAGCCAAGATCATGACACTGCACTCCAGCTTGGGCAACAAGAGCAAAATGCTGTCTCAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAAACAACTTGAAGAAGTGTTTGCTCTATCAAATTCACAGACACCAATGCAAAACTATATTGTGCCTATTGTCAATGCTTCTATTTTTACGTAGGACTGGAAGTAAGTGGCAGAATCATGAG M|sit* 11CO039 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 6 0 43 16 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* 11CO039 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 8 3 0 21 15 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismappers(1),mismatches(1) GAAGGACTTTGCTGCTTTcGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGAC(CGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO039 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 9 1 0 15 63 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream . GTGGGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGG(GTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO039 ENSG00000169062.15 ENSG00000283361.2 +/+ +/+ chr13:114299000 chr13:114211912 CDS/splice-site CDS/splice-site duplication 3 2 0 157 7 high in-frame . Smg-4/UPF3_family(100%)| . . ENSG00000169062.15 ENSG00000283361.2 ENST00000375299.8 ENST00000646158.1 downstream upstream . ^(GTCGGGGGCTGGCGGCTGCGGCTCGGCGGAGAGTGCGGCATGCGCTCGGAAAAGGAGGGGGCCGGAGGCCTTCGGGCGGCCGTTGCCGCGCGGGGCCCGAGCGGGAGGGAGAAGCTGTCGGCCCTAGAAGTGCAGTTCCACCGCGACTCGCAGCAGCAGGAGGCTGAGACGCCGCCAACTTCGTCCTCCGGTTGCGGGGGCGGTGCGGGCAAACCTCGCGAGGAGAAGAGGACGGCCCTGAGCAAG___GTGGTCATCCGCCGCCTGCCTCCGGGCCTCACCAAGGAGCAGCTGGAGGAGCAGCTGCGCCCGCTGCCAGCACACGACTACTTCGAGTTCTTCGCCGCCGACCTGAG___TCTTTATCCTCATCTCTACTCAAGAGCATACATTAATTTTAGGAATCCTGATGACATCCTTCTTTTTAGAGATCGTTTTGATGGATATATCTTCCTTGACAGCAAAG___GCCTAGAATATCCTGCAGTGGTAGAGTTTGCTCCATTCCAGAAGATAGCCAAAAAGAAGCTGAGAAAAAAAGATGCCAAGACTGGAAGCATCGAAGATG___ATCCAGAATATAAGAAGTTTTTAGAAACCTACTGTGTGGAGGAAGAGAAGACCAGTGCCAACCCTGAGACTCTGCTGGGGGAGATGGAGGCGAAGACAAGAGAGCTCATTG___CTAGAAGAACCACACCTCTTTTGGAATATATTAAAAATAGAAAATTAGAAAAGCAG___AGAATTCGAGAAGAGAAGCGAGAAGAACGGAGGAGGAGAGAGTTAGAAAAGAAACGTTTGCGGGAAGAGGAAAAAAGAAGAAGAAGAGAAGAAGAAAGATGCAAAAAAAAAGAGACAGATAAACAGAAGAAAATTG)CAGAGAAAGAAGTAAGGATTAAG___CTTCTTAAGAAACCAGAAAAGGGAGAGGAACCAACCACAGAGAAACCAAAAGAAAGAGGAGAGGAGATTGATACTGGAGGTGGCAAGCAGGAATCCTGTGCCCCCGGTGCAGTCGTAAAAGCCAGGCCCATGGAAGGCTCGCTGGAGGAGCCCCAGGAGAC|TCTGCACAGGGGGAAGAGAGAACAGGAACTTCGCAGAGTGCGGAAGAAAACACGGCCATTCTGGAAGGAATCACACACTCAGAACCATGGTATGGAGCTCAAAGGTGGTGTGAAGACTGGGGCAGGGCTGAGAAGTCCCGGGTGCTGG(TGTGGAATCTCCCTGGAGACAGCAGATACGCCTAGCAAAAAG___CAGGAAGTGAAACTGGATTAG)$ MRSEKEGAGGLRAAVAARGPSGREKLSALEVQFHRDSQQQEAETPPTSSSGCGGGAGKPREEKRTALSKVVIRRLPPGLTKEQLEEQLRPLPAHDYFEFFAADLSLYPHLYSRAYINFRNPDDILLFRDRFDGYIFLDSKGLEYPAVVEFAPFQKIAKKKLRKKDAKTGSIEDDPEYKKFLETYCVEEEKTSANPETLLGEMEAKTRELIARRTTPLLEYIKNRKLEKQRIREEKREERRRRELEKKRLREEEKRRRREEERCKKKETDKQKKIAEKEVRIKLLKKPEKGEEPTTEKPKERGEEIDTGGGKQESCAPGAVVKARPMEGSLEEPQEt|LHRGKREQELRRVRKKTRPFWKESHTQNHGMELKGGVKTGAGLRSPGCWCGISLETADTPSKKQEVKLD* 11CO039 ENSG00000138190.17 ENSG00000108231.13 +/+ +/+ chr10:92848634 chr10:93805472 CDS/splice-site CDS/splice-site deletion 2 2 0 36 13 high out-of-frame . . . . ENSG00000138190.17 ENSG00000108231.13 ENST00000443748.6 ENST00000636155.1 downstream upstream . ^(ACTTGGAGCTCGCCCCCGTCGTTCCCGCGGCGCCGCGCCTCGCTGG)CTCCTCAGCTTCCAGCCAAAATGGCGGAGAACAGCGAGAGTCTGGGCACCGTCCCCGAGCACGAGCGGATCTTGCAGGAGATCGAGAGCACCGACACCGCCTGTGTGGGGCCCACCCTCCG|GTCAATCCTGTTGGTGTCCACAATAtTTCTCTCTCTGGGGCAGTGGGCATAGTGGTAACAGCATGTGTTTAAGAGTCAGGGAGACCTTGATTTGCATCCCAATATGGCCTCCTCTAGCTCTAGGACCTGGGACAAGCTAATCAAACTCATCTGCAAAATGTGAATAATGATCGTCATAGAGTGGGT(TTGCAGATTAAATACTGTATAAGCCTCACAAGTACCCCAGGAGGTGGTTACTCTGAATACCTCTATTTTACTAATGAAATTAGCAACTTGTCCATGAACATACGGCTAGCAAGTCTGACCTGGGAGCCTGCATCTGGGATTTTGGCCACTCCATTCTGCTAAGCTGGTATGAGTTGTAGAAGCGGTACATTATTGTATAGGAGCTGTAATCACTGATCAGGATAGGTGGAAAATGCTTACACCCCATCACATCTTTCTCTGTGAGAGCTGAGGATGTCTGTGGACCTCTAGAAGAACAGGTGGAACAGAAACCCAGGTGAGGCAGTGGGGCCCACCAAGAAGTTACAGGTAGAAGACGGCAGTGAAGTGAGCTGACCACCCCAGCAGCATTGGTGTGCTCCAACATAGAAGATGACAGGAGTCACAGTGTGTGATATGCATGCATTCTTATTGAGGAACATTGAGGGACTTTGGCCT)$ MAENSESLGTVPEHERILQEIESTDTACVGPTLr|sillvstiflslgqwa* 11CO039 ENSG00000064601.19 ENSG00000172315.6 +/+ -/+ chr20:45892484 chr20:46687336 CDS/splice-site intron deletion/5'-5' 2 1 0 277 8 high out-of-frame . Serine_carboxypeptidase(100%)| . . ENSG00000064601.19 ENSG00000172315.6 ENST00000354880.9 . downstream upstream duplicates(1) ^(ACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAG___ATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTG___GTTTGTGGAGTCCCAGAAGGATCC)CGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTG___ATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAG|GACTATTGAGGAATGCTACAGGAAATGGTACAACTGAACTCATCTGGAATATTCCCCTGCTCATGCCCACTGCAGGACTATGCCTGGGAACACCCCACAGCTAAACTGAGG MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLIANVLYLESPAGVGFSYSDDKFYATNDTE|dy* 11CO039 ENSG00000119912.17 ENSG00000185303.17(1863),ENSG00000219430.2(20028) -/- ./+ chr10:92468879 chr10:79562270 CDS/splice-site intergenic inversion 1 1 0 40 3 high out-of-frame . Insulinase_(Peptidase_family_M16)(100%),Middle_or_third_domain_of_peptidase_M16(100%),Peptidase_M16_inactive_domain(100%)| . . ENSG00000119912.17 . ENST00000265986.11 . upstream upstream . ^(ATGCGCAGTGCGCAGGGCCGGCTCGAAGCGCAAGCAGGAAGCGTTTGCGGTGATCCCGGCGACTGCGCTGGCTAATGCGGTACCGGCTAGCGTGGCTTCTGCACCCCGCACTGCCCAGCACCTTCCGCTCAGTCCTCGGCGCCCGCCTGCCGCCTCCGGAGCGCCTGTGTGG___TTTCCAAAAAAAGACTTACAGCAAAATGAATAATCCAGCCATCAAGAGAATAGGAAATCACATTACCAAGTCTCCTGAAGACAAGCGAGAATATCGAGGGCTAGAGCTGGCCAATGGTATCAAAGTACTTCTTATCAGTGATCCCACCACGGATAAGTCATCAGCAGCACTTGATGTGCACATAG___GTTCATTGTCGGATCCTCCAAATATTGCTGGCTTAAGTCATTTTTGTGAACATATGCTTTTTTTGGGAACAAAGAAATACCCTAAAGAAAATGAATACAGCCAGTTTCTCAGTGAGCATGCAGGAAGTTCAAATGCCTTTACTAGTGGAGAGCATACCAATTACTATTTTGATGTTTCTCATGAACACCTAGAAGGTGCCCTAGACAG___GTTTGCACAGTTTTTTCTGTGCCCCTTGTTCGATGAAAGTTGCAAAGACAGAGAGGTGAATGCAGTTGATTCAGAACATGAGAAGAATGTGATGAATGATGCCTGGAGACTCTTTCAATTGGAAAAAGCTACAGGGAATCCTAAACACCCCTTCAGTAAATTTGGGACAG___GTAACAAATATACTCTGGAGACTAGACCAAACCAAGAAGGCATTGATGTAAGACAAGAGCTACTGAAATTCCATTCTGCTTACTATTCATCCAACTTAATGGCTGTTTGTGTTTTAGGTCGAG___AATCTTTAGATGACTTGACTAATCTGGTGGTAAAGTTATTTTCTGAAGTAGAGAACAAAAATGTTCCATTGCCAGAATTTCCTGAACACCCTTTCCAAGAAGAACATCTTAAA___CAACTTTACAAAATAGTACCCATTAAAGATATTAGGAATCTCTATGTGACATTTCCCATACCTGACCTTCAGAAATACTACAAATCAAATCCTGGTCATTATCTTGGTCATCTCATTGGGCATGAAGGTCCTGGAAGTCTGTTATCAGAACTTAAGTCAAAGG___GCTGGGTTAATACTCTTGTTGGTGGGCAGAAGGAAGGAGCCCGAGGTTTTATGTTTTTTATCATTAATGTGGACTTGACCGAGGAAGGATTAT___TACATGTTGAAGATATAATTTTGCACATGTTTCAATACATTCAGAAGTTACGTGCAGAAGGACCTCAAGAATGGGTTTTCCAAGAGTGCAAG___GACTTGAATGCTGTTGCTTTTAGGTTTAAAGACAAAGAGAGGCCACGGGGCTATACATCTAAGATTGCAGGAATATTGCAT___TATTATCCCCTAGAAGAGGTGCTCACAGCGGAATATTTACTGGAAGAATTTAGACCTGACTTAATAGAGATGGTTCTCGATAAACTCAGACCAGAAAATGTCCG___GGTTGCCATAGTTTCTAAATCTTTTGAAGGAAAAACTGATCGCACAGAAGAGTGGTATGGAACCCAGTACAAACAAGAAGCTATACCGGATGAAGTCATCAAG___AAATGGCAAAATGCTGACCTGAATGGGAAATTTAAACTTCCTACAAAGAATGAATTTATTCCTACGAATTTTGAGATTTTACCGTTAGAAAAAGAGGCGACACCATACCCTGCTCTTATTAAG___GATACAGCTATGAGCAAACTTTGGTTCAAACAAGATGATAAGTTTTTTTTGCCGAAGGCTTGTCTCAACTTTGAATTTTTCAG___CCCATTTGCTTATGTGGACCCCTTGCACTGTAACATGGCCTATTTGTACCTTGAGCTCCTCAAAGACTCACTCAACGAGTATGCATATGCAGCAGAGCTAGCAGGCTTGAGCTATGATCTCCAAAATACCATCTATGGGATGTAT___CTTTCAGTGAAAGGTTACAATGACAAGCAGCCAATTTTACTAAAGAAGATTATTGAGAAAATGGCTACCTTTGAGATTGATGAAAAAAGATTTGAAATTATCAAAGAAGCA___TATATGCGATCTCTTAACAATTTCCGGGCTGAACAGCCTCACCAGCATGCCATGTACTACCTCCGCTTGCTGATGACTGAAGTGGCCTGGACTAAAGATGAGTTAAAAGAAGCTCTGGATG___ATGTAACCCTTCCTCGCCTTAAGGCCTTCATACCTCAGCTCCTGTCACGGCTGCAC)ATTGAAGCCCTTCTCCATGGAAACATAACAAAGCAG___GCTGCATTAGGAATTATGCAGATGGTTGAAGACACCCTCATTGAACATGCTCATACCAAACCTCTCCTTCCAAGTCAGCTGGTTCGGTATAGAGAAGTTCAGCTCCCTGACA|CAATGTGGACTCGTGAGTGAGGCTTGCCACCGACCGCCAGGGGGAACCATGCACTCGCCTGCGTGCTGCAAGGGACACTATCCGAGTTTGATGTTGAGACAG___CTGCACTGGGTGCTAGCAGTGGGAAGAGGCTGTCTGTGGCTGCTAGAGCTTTCCCG MRYRLAWLLHPALPSTFRSVLGARLPPPERLCGFQKKTYSKMNNPAIKRIGNHITKSPEDKREYRGLELANGIKVLLISDPTTDKSSAALDVHIGSLSDPPNIAGLSHFCEHMLFLGTKKYPKENEYSQFLSEHAGSSNAFTSGEHTNYYFDVSHEHLEGALDRFAQFFLCPLFDESCKDREVNAVDSEHEKNVMNDAWRLFQLEKATGNPKHPFSKFGTGNKYTLETRPNQEGIDVRQELLKFHSAYYSSNLMAVCVLGRESLDDLTNLVVKLFSEVENKNVPLPEFPEHPFQEEHLKQLYKIVPIKDIRNLYVTFPIPDLQKYYKSNPGHYLGHLIGHEGPGSLLSELKSKGWVNTLVGGQKEGARGFMFFIINVDLTEEGLLHVEDIILHMFQYIQKLRAEGPQEWVFQECKDLNAVAFRFKDKERPRGYTSKIAGILHYYPLEEVLTAEYLLEEFRPDLIEMVLDKLRPENVRVAIVSKSFEGKTDRTEEWYGTQYKQEAIPDEVIKKWQNADLNGKFKLPTKNEFIPTNFEILPLEKEATPYPALIKDTAMSKLWFKQDDKFFLPKACLNFEFFSPFAYVDPLHCNMAYLYLELLKDSLNEYAYAAELAGLSYDLQNTIYGMYLSVKGYNDKQPILLKKIIEKMATFEIDEKRFEIIKEAYMRSLNNFRAEQPHQHAMYYLRLLMTEVAWTKDELKEALDDVTLPRLKAFIPQLLSRLHIEALLHGNITKQAALGIMQMVEDTLIEHAHTKPLLPSQLVRYREVQLPD|tmwtre* 11CO039 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 5 5 0 275 19 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATC)TAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTaGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQE*QKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO039 ENSG00000038382.20 ENSG00000226306.6 +/+ +/+ chr5:14143882 chr5:137793123 CDS/splice-site intron deletion 0 5 0 6 25 medium out-of-frame . . . . ENSG00000038382.20 ENSG00000226306.6 ENST00000344204.9 ENST00000510937.1 downstream upstream . ^(ATTGAAATCAAGATGGAGGCTCGCGGCAGCCGCCGGCGCCCGTGATCCCGGAGGTCTCGCCGGCCACGGGCCCCCGCCCTCGCGACTGCGCGTCCGGGAGGCGCGTGCTGCTGCCCGCGCTCCGGCCGGCGCCCGGGAGGCCGTGGCTCCGCGCCTCCGCCCCTCGGCCAGCTCGCGGCTACCGGGCGGAGTCCTCGTCTATGTGGGCGCGCTCCTTGGGCCGAGCCGCCGCCGCCGCCCCCCGCCGCCCCGGGGCTCTGCGTCCGCGCGCCGGGCGCGGGCAGCTGGGTGCTCGGCGCCGCCAGGCCCGGCGCGGAGCGGGCGGCACGCGGCGCTAGGGGCGCGGGGCCCGAGGCGGGCGCGGCCGCGGGCGCCGCCGCAGCCATGAGCGGCAGCAGCGGCGGAGCCGCCGCCCCCGCCGCGTCCTCCGGCCCCGCCGCGGCGGCCAGCG)CGGCTGGCTCGGGCTGCGGGGGCGGTGCCGGCGAGGGGGCAGAGGAGGCGGCCAAGGACCTGGCCGACATCGCGGCCTTCTTCCGATCCG|TGTGGAGAAATGATTGGAAGGAGGTAAAAGAAAACGTGGAGAGACAAGTAACTACACCATTGCTTTAGTCCAG___CTCCACCTCATGTCACTGCTGCTGAGATTTCTGACTCCTCCCTTCCGGCTCTTCAGTGACCTTCAGTGCCCACTGGATTCCAAAGCTCAATCCTCTGTGCAAT(GATTCCAACTCCAGGGATCAGTGTCTGAAGTGAAGCTACAGATTGTCTGGTGGATAAATAATCCAAGAAGGAACGGGGGATGTTATGACTTTTTGAGAGAAGGCTAACATGTCATCCTTGACAGATAAACTTTAAAAAATTATAATAATGGAAATGAAGAAAGAAAACAACAGAAGATGAGAATAGCAAAAGAGCTAGACATTTCCGACAG___GGTCTCAAGAGCACGCTCAAGTCATTCACATGTTTCCATCAAATACAGACACAGATCAGGGAAGATTAAACCCTACTAATTTCTCGTCGGATGCCTCACAACAAGGTGCCTTCCAAGAACTAATGGCCAAAATATCCACCCACAACACAAATAAGCTTAGAAAATCTCTTCTTACAATCCTGACACAATGGAAGTTTCCCTAAACCACCCAGCATCTAATACAACCAGCACAAAGAACAACAACTCGGCATTTTTTTACTTTGAGTCCTGTCAACCCCCTTCTCCAGCTTTACTCCTATTATGCATAGCCTATACTGTGGTCTTAATTGTGGGCCTTTTTGGAAACCTCTCTCTCATCATCATCATCTTTAAGAAGCAGAGAAAAGCTCAGAATTTCACCAGCATACTGATTGCCAATCTCTCCCTCTCTGATACCTTGGTGTGTGTCATGTGCATCCATTTTACTATCATCTACACTCTGATGGACCACTGGATATTTGGGGATACCATGTGCAGACTCACATCCTATGTGCAGAGTGTCTCAATCTCTGTGTCCATATTCTCACTTGTATTCACTGCTGTCGAAAGATATCAGCTAATTGTGAACCCCCGTGGCTGGAAGCCCAGTGTGACTCATGCCTACTGGGGCATCACACTGATTTGGCTGTTTTCCCTTCTGCTGTCTATTCCCTTCTTCCTGTCCTACCACCTCACTGATGAGCCCTTCCGCAACCTCTCTCTCCCCACTGACCTCTACACCCACCAGGTGGCCTGTGTGGAGAACTGGCCCTCCAAAAAGGACCGGCTGCTCTTCACCACCTCCCTTTTTCTGCTGCAGTATTTTGTTCCTCTAGGCTTCATCCTCATCTGCTACTTGAAGATTGTTATCTGCCTCCGCAGGAGAAATGCAAAGGTAGATAAGAAGAAGGAAAATGAGGGCCGGCTCAATGAGAACAAGAGGATCAACACAATGTTGATTTCCATCGTGGTGACCTTTGGAGCCTGCTGGCTGCCCCGAATATCTTCAATGTCATCTTTGACTGGTATCATGAGGTGCTGATGAGCTGCCACCACGACCTGGTATTTGTAGTTTGCCACTTGGTTGCTATGGTTTCCACATGTATAAACCCTCTCTTTTATGGCTTTCTCAACAAAAATTTCCAAAAGGACCTGGTAGTGCTTATTCACCACTGCTGGTGCTTCACACCTCAGGAAAGATGTGAAAATATTGCCATCTCCACTATGCACACAGACTCCAAGAGGTCTTTAAGATTGGCTCGTATAACAACAGGTATATGAAAATTGATAATGCTGAAGCTCTTCTTGAATGGGAGCTGGACAGGTAATGGTGGGAATAGGGCAAGATGCAGAAAGAAGAAACCAGAACCAAAAATAGCAACTTTATACCCACTTTTCCTTTAGGCTAAGACTGCCTGTCTCATATGTCTATCCAACACACCCTCCAACATACACGAACACACATACCACCCCTTTTCTCTTAAGAAAATAACTCTAATAATTCAAACAACCTGCCCGCCATCATTTGTGGCAAAGAATGAGAATGAGAAAGCAGAGAGAGAGGCAAACAGCAGTGATGGCTGGGGAACAATGTTCACAGATACTTTTATTCAATGGAATATCTACAAAAGTTATGACTAATGATATGCCTAGTAAAAACACTGCTATACCTCCTTAGCACTGAAGCAAGTCTATTCTCAGATATGAAAACTGTAACTTTCAATCATATAACTATTCAATTAATTAGCCAAGTCAGAAAATCCCCCCTTAAAATTCATTAATTAATTAACAAACTAAGTTTGGACTAAAGTTGAAGGGCTGGTTTTAACTTAACATTTAAACGAAGTGTTGTAATTACAATTAATTCCCATGCTTGAATCATATCTCCAGTTTATGATAACAGTACATTTTATTCACTAACAATGCTATTAGAACTGGCCACAAATTCTTTAGCATAGCAATTATGCTAGAAATTGCTCTAACAAACTTATTAATGGCCAATGTAGATACAGCTTTCCTCACAAAGTGGCTTTTAATCCCTAATTCTTTATGTATATTAAAAAGAGGTCATTATGACTCTATTACTGGATCTCAGAGACTTTGTCAGTAGCATTTTTATAATTAGCGCCAGATTTTTAAAACCTTCTCATATATCTTGTGGCTTAAACATTTTTAAAAGAGCCCTCATCCCCACAGAGTTGCTTACACAGGGGAATCAACTAGACTGTTCTCAAAAGACACTAAGCTACTGTTCAAATTGCTATTAACTGAAGTCACTTTTATTAAATTGTGACCAGCTTTACCACTTCTTAGAACAAACCTCCCCTATATCTATCAAAGTTGAACTGCAGCTTATTTGTATGTTAAAAATGTAACTGTAGGCTGGACTCAGCAACTTACACCTGTAATCCCAGCCCTTTGGGAGGCCAAGGTGGAGGATCACTTTTGCCCAGGAGTTGAAGACCAGCCTGAGCAACACAGTGAGACTCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTCATGCATACCTGCAGTCCCAGCTACTTAGATGAGAGGAAGGATCACCTGAGCCTGGGAGATCAAGTGAGTCATGATCACACCACTGCACTCCAACCTGGATGAAAGAGTGAGACCCTGTCTCAAAAAAAAATTTTAAAAGTAACTATATTTTCTTTTGAATAAAAAGTAATGTTTCTGGAAA)$ MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRS|vwrndwkevkenverqvttpll* 11CO039 ENSG00000134758.14 ENSG00000263917.1 +/+ +/+ chr18:32092886 chr18:32087898 CDS/splice-site intron duplication 2 2 0 58 4 medium out-of-frame . . . . ENSG00000134758.14 ENSG00000263917.1 ENST00000261593.8 . downstream upstream duplicates(1) ^(GCCGTGCGCCGGTTGCTATACAGGCCGCACTTCACACCCCGTGCCTCCCCGCCTCTCCTGGCTCCTCCGCCCAGATCCCCGGCGCTCCCGCGTTCGGTGACGGCCGGGTAGGCTGTAGGCAGCGCAATGCCAAGACAGAGCTGCTGGCGGCGGCGGGCGAATCTCCCTGCACCATGAGCCTCGGCTCCGGCCCCGTTAGGGGCCGATAAGCACAGCGCACGCCGCCCTCCATTTGCCCCGGGGCCTCGGCTGCGAAGATAGCGGCGGCCGGACAGGAAGCTCGAGGAAAGCGCTGGGCCGGGTCTCTACGAACACGTGAAGGAAAAGCAGCTCCGTCCACAACGCCGCTTCGGGGCTCCTAG___GGAGTCGGGCCCCGGGCCGCCACCGTCACCTCGGCCGCTGCCGCTGTCGCCATCG)CCTTGTTTCCCCATCCCCCGCCATGGCCGAGGACCTCTCTGCGGCCACGTCCTACACCGAAGATGATTTCTACTGCCCCGTCTGTCAGGAGGTGCTCAAAACGCCCGTGCGGACCACGGCCTGTCAGCACGT|GATAACAATACGAAGATCCACCTGTCTTGCTGCTGCCCAAGACCACACTTCCATCCACAAGTTCCCCAGTAAATCACCTGCTACCAGCAAACTGGATTTGTTTGCCTCTTCTTTGGATTTTTGGCTTCTTCTGCATTTGAGAGTCACTTTGCAT MAEDLSAATSYTEDDFYCPVCQEVLKTPVRTTACQHv|itirrstclaaaqdhtsihkfpskspatskldlfassldfwlllhlrvtl 11CO039 ENSG00000088356.6 ENSG00000197296.6(5958),ENSG00000101074.5(19883) -/- ./+ chr20:31945407 chr20:44317160 3'UTR intergenic inversion 1 2 0 66 13 medium stop-codon . . . . ENSG00000088356.6 . ENST00000202017.6 . upstream upstream . ^(ACCTAGAGAGCGGCGCGTGCGCAGCGGGAGTCGAAGCGGAGATCCCGGGGTCGCGCGAGAGCCGCAAGCGGAGTTGGTGGGCGCTATGCTATCACCCGAGGCAGAGCGAGTGCTGCGGTACCTTGTAGAAGTGGAGGAGCTCGCCGAGGAGGTGCTGGCGGACAAGCGGCAG___ATTGTGGACCTGGACACTAAAAGGAATCAGAATCGAGAGGGCCTGAGGGCCCTGCAGAAGGATCTCAGCCTCTCTG___AAGATGTGATGGTTTGCTTCGGGAACATGTTTATCAAGATGCCTCACCCTGAGACAAAGGAAATGATTGAAAAAG___ATCAAGATCATCTGGATAAAGAAATAGAAAAACTGCGGAAGCAACTTAAAGTGAAGGTCAACCGCCTTTTTGAGGCCCAAG___GCAAACCGGAGCTGAAGGGTTTTAACTTGAACCCCCTCAACCAGGATGAGCTTAAAGCTCTCAAGGTCATCTTGAAAGGATGAGACTCAAGAACCAAGATGGGGGACCAGCAACCCCCCAGGGTCATGGAGGACCCAGGACCCTCCAACCTTGACACCTGTAAGGACAGGATCTGCCCTGTAAGGGGCCAGCCGTCAGGAATCTGGCCATGAAAACCTCTTTGTAGTGCTTGGCTACTCTGTGATGGCAGGAGGGAACCTTCAGCCTGTCTGGCTGCTGGACCTGGACACCAGGGCTCGGTGGACACAAGATCTATTGACGGGCCTTGGTAGCCACCAGTGGGTGTGTGG)GGCAGTGGCTGTGGGGGTGTAAGAATGACTGCAACAGGCACTTCCCAACAATGGCCTGCTGTTCACATGGACCCTGAGCAAGGAAGGAGGGAGGGAGGGGCAGAGTGGAGTGTCATTCCAGCATTCCTCTCA|a|TCATATGGAACCACAAAAAACTCAAATAGCCAAGGCAATAATGAGTAAAAAAACAAAGCTGGAGACATCTTACTACTTGATTTAAAACTATACCACAAAACAACAGTAATTAAA...GGAACAGAGTAGAGAGCCCAGAAATGAACCCATGCATATATGGTCAATTGACTTTTGACAAAGATGCCATGGATACACAACAGGAAAAGGACAGTCTCTTCAATAAATGATGTTGGGGAAAACTGGATATCCATATGCAGAAGAATGAAA . 11CO039 ENSG00000139116.18 ENSG00000270718.1(65643),ENSG00000139116.18(56706) -/- ./- chr12:39325839 chr12:39236523 CDS/splice-site intergenic deletion/read-through 2 1 0 55 3 medium out-of-frame . Kinesin_motor_domain(100%)| . . ENSG00000139116.18 . ENST00000544797.6 . upstream downstream . ^(AGCCTACTGCGCCCGAGTCCCGCGGCCCCAGTGGCGCCTCAGCTCTGCGGTGCCGAGGCCCAACGGCTCGATCGCTGCCCGCCGCCAGCATGTTGGGCGCCCCGGACGAGAGCTCCGTGCGGGTGGCTGTCAG___AATAAGACCACAGCTTGCCAAAGAGAAGATTGAAGGATGCCATATTTGTACATCTGTCACACCAGGAGAGCCTCAGGTCTTCCTAGGGAAAGATAAGGCTTTTACTTTTGACTATGTATTTGACATTGACTCCCAGCAAGAGCAGATCTACATTCAATGTATAGAAAAACTAATTGAAGGTTGCTTTGAAGGATACAATGCTACAGTTTTTGCTTATGGACAA___ACTGGAGCTGGTAAAACATACACAATGGGAACAGGATTTGATGTTAACATTGTTGAGGAAGAACTGGGTATTATTTCTCGAGCTGTTAAACACCTTTTTAAGAGTATTGAAGAAAAAAAACACATAGCAATTAAAAATGGGCTTCCTGCTCCAGATTTTAAAGTGAATGCCCAATTCTTAGAG___CTCTATAATGAAGAGGTCCTTGACTTATTTGATACCACTCGTGATATTGATGCAAAAAGTAAAAAATCAAATATAAGAATTCATGAAGATTCAACTGGAGGAATTTATACTGTGGGCGTTACAACACGTACTGTGAATACAGAATCAGAG___ATGATGCAGTGTTTGAAGTTGGGTGCTTTATCCCGGACAACTGCCAGTACCCAGATGAATGTTCAGAGCTCTCGTTCACATGCCATTTTTACCATTCATGTGTGTCAAACCAGAGTGTGTCCCCAAATAGATGCT___GACAATGCAACTGATAATAAAATTATTTCTGAATCAGCACAGATGAATGAATTTGAAACCCTGACTGCAAAGTTCCATTTTGTTGATCTCGCAGGATCTGAAAGACTGAAGCGTACTGGAGCTACAGGCGAGAGGGCAAAAGAAGGCATTTCTATCAACTGTGGACTT___TTGGCACTTGGCAATGTAATAAGTGCCTTGGGAGACAAGAGCAAGAGGGCCACACATGTCCCCTATAGAGATTCCAAGCTAACAAGACTACTACAGGATTCCCTCGGGGGTAATAG___CCAAACAATCATGATAGCATGTGTCAGCCCTTCAGACAGAGACTTTATGGAAACGTTAAACACCCTGAAATACGCCAATCGAGCTAGAAATATCAAGAATAAGGTGATGGTCAATCAGGACAGAGCTAGTCAGCAAATCAATGCACTTCGTAGTGAAATCACACGACTTCAGATGGAGCTCATGGAGTACAAAACA___GGTAAAAGAATAATTGACGAAGAGGGTGTGGAAAGCATCAATGACATGTTTCATGAGAATGCTATGCTACAGACTGAAAATAATAACCTGCGTGTAAGAATTAAAGCCATGCAAGAGACGGTTGATGCATTGAGGTCCAGAATTACACAGCTTGTTAGTGATCAGGCCAACCATGTTCTTGCCAGAGCAG___GTGAAGGAAATGAGGAGATTAGTAATATGATTCATAGTTATATAAAAGAAATCGAAGATCTCAG___GGCAAAATTATTAGAAAGTGAAGCAGTGAATGAGAACCTTCGAAAAAACTTGACAAGAGCCACAGCAAGAGCGCCATATTTCAGCGGATCATCAACTTTTTCTCCTACCATACTATCCTCAGACAAAGAAACCATTGAAATTATAGACCTAGCAAAAAAAGATTTAGAGAAGTTGAAAAGAAAAGAAAAGAGGAAGAAAAAAAG___TGTGGCTGGTAAAGAGGATAATACAGACACTGACCAAGAGAAGAAAGAAGAAAAGGGTGTTTCGGAAAGAGAAAACAATGAATTAGAAGTG___GAAGAAAGTCAAGAAGTGAGTGATCATGAGGATGAAGAAGAGGAGGAGGAGGAGGAGGAAGATGACATTGATGGGGGTGAAAGTTCTGATGAATCAGATTCTGAATCAGATGAAAAAG___CCAATTATCAAGCAGACTTGGCAAACATTACTTGTGAAATTGCAATTAAGCAAAAGCTGATTGATGAACTAGAAAACAGCCAGAAAAGACTGCAGACTCTGAAAAAGCAGTATGAAGAGAAGCTAATGATGCTGCAACATAAAATTCGGGATACTCAGCTTGAAAGAGACCAGGTGCTTCAAAACTTAG___GCTCGGTAGAATCTTACTCAGAAGAAAAAGCAAAAAAAGTTAGGTCTGAATATGAAAAGAAACTCCAAGCCATGAACAAAGAACTGCAGAGACTTCAAGCAGCTCAAAAAGAACATGCAAGGTTGCTTAAAAATCAGTCTCAGTATGAAAAGCAATTGAAGAAATTGCAGCAGGATGTGATGGAAATGAAAAAAACAAAG___GTTCGCCTAATGAAACAAATGAAAGAAGAACAAGAGAAAGCCAGACTGACTGAGTCTAGAAGAAACAGAGAGATTGCTCAGTTGAAAAAGGATCAACGTAAAAGAGAT___CATCAACTTAGACTTCTGGAAGCCCAAAAAAGAAACCAAGAAGTGGTTCTACGTCGCAAAACTGAAGAG___GTTACGGCTCTTCGTCGGCAAGTAAGACCCATGTCAGATAAAGTGGCTGGGAAAGTTACTCGGAAGCTGAGTTCATCTGATGCACCTGCTCAGGACACAGGTTCCAGTGCAGCTGCTGTCGAAACAGATGCATCAAGGACAGGAGCCCAGCAGAAAATGAGAATTCCTGTGGCGAGAGTCCAGGCCTTACCAACGCCGGCAACAAATGGAAACAG___GAAAAAATATCAGAGGAAAGGATTGACTGGCCGAGTGTTTATTTCCAAGACAGCTCGCATGAAGTGGCAGCTCCTTGAGCGCAGGGTCACAGACATCATCATGCAGAAGATGACCATTTCCAACATGGAGGCAGATATGAATAGACTCCTCAAG___CAACGGGAGGAACTCACAAAAAGACGAGAGAAACTTTCAAAAAGAAGGGAGAAGATAGTCAAGGAGAATGGAGAGGGAGATAAAAATGTGGCTAATATCAATGAAGAGATGGAGTCACTGACTGCTAATATCGATTACATCAATGACAGTATTTCTGATTGTCAGGCCAACATAATGCAGATGGAAGAAGCAAAG___GAAGAAGGTGAGACATTGGATGTTACTGCAGTCATTAATGCCTGCACCCTTACAGAAGCCCGATACCTGCTAGATCACTTCCTGTCAATGGGCATCAATAAG___GGTCTTCAGGCTGCCCAGAAAGAGGCTCAAATTAAAGTACTGGAAGGTCGACTCAAACAAACAGAAATAACCAGTGCTACCCAAAACCAGCTCTTATTCCATATGTTGAAAGAGAAGGCAGAATTAAATCCTGAGCT)AGATGCTTTACTAGGCCATGCTTTACAAG___AAAATGTAGAGGATAGTACTGATGAGGATGCTCCTTTAAACAGCCCAGGATCAGAAGGAAG___CACGCTGTCTTCAGATCTCATGAAGCTTTGTGGTGAAGTGAAACCTAAGAACAAG|GAACCAAGTTTGCTTCTACATTAATGAGAGGTAGAATGGAGAAGAAAGGGGAGAGGATTATTTTCAAGATTCATGAAGAAGCTAACGGCAATACTCTACTGGATGAACAACAGGTATAAGATTTGATCAAAAAGAATTTGGAG MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQQEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVNIVEEELGIISRAVKHLFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHEDSTGGIYTVGVTTRTVNTESEMMQCLKLGALSRTTASTQMNVQSSRSHAIFTIHVCQTRVCPQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSERLKRTGATGERAKEGISINCGLLALGNVISALGDKSKRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSPSDRDFMETLNTLKYANRARNIKNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESINDMFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIHSYIKEIEDLRAKLLESEAVNENLRKNLTRATARAPYFSGSSTFSPTILSSDKETIEIIDLAKKDLEKLKRKEKRKKKSVAGKEDNTDTDQEKKEEKGVSERENNELEVEESQEVSDHEDEEEEEEEEEDDIDGGESSDESDSESDEKANYQADLANITCEIAIKQKLIDELENSQKRLQTLKKQYEEKLMMLQHKIRDTQLERDQVLQNLGSVESYSEEKAKKVRSEYEKKLQAMNKELQRLQAAQKEHARLLKNQSQYEKQLKKLQQDVMEMKKTKVRLMKQMKEEQEKARLTESRRNREIAQLKKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPMSDKVAGKVTRKLSSSDAPAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGNRKKYQRKGLTGRVFISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKRREKLSKRREKIVKENGEGDKNVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEGETLDVTAVINACTLTEARYLLDHFLSMGINKGLQAAQKEAQIKVLEGRLKQTEITSATQNQLLFHMLKEKAELNPELDALLGHALQENVEDSTDEDAPLNSPGSEGSTLSSDLMKLCGEVKPKNK|epslllh* 11CO039 ENSG00000139116.18 ENSG00000270718.1(101020),ENSG00000139116.18(21329) -/- ./- chr12:39325839 chr12:39271900 CDS/splice-site intergenic deletion/read-through 1 1 0 55 4 medium out-of-frame . Kinesin_motor_domain(100%)| . . ENSG00000139116.18 . ENST00000544797.6 . upstream downstream duplicates(1),low_entropy(1),mismappers(1) ^(AGCCTACTGCGCCCGAGTCCCGCGGCCCCAGTGGCGCCTCAGCTCTGCGGTGCCGAGGCCCAACGGCTCGATCGCTGCCCGCCGCCAGCATGTTGGGCGCCCCGGACGAGAGCTCCGTGCGGGTGGCTGTCAG___AATAAGACCACAGCTTGCCAAAGAGAAGATTGAAGGATGCCATATTTGTACATCTGTCACACCAGGAGAGCCTCAGGTCTTCCTAGGGAAAGATAAGGCTTTTACTTTTGACTATGTATTTGACATTGACTCCCAGCAAGAGCAGATCTACATTCAATGTATAGAAAAACTAATTGAAGGTTGCTTTGAAGGATACAATGCTACAGTTTTTGCTTATGGACAA___ACTGGAGCTGGTAAAACATACACAATGGGAACAGGATTTGATGTTAACATTGTTGAGGAAGAACTGGGTATTATTTCTCGAGCTGTTAAACACCTTTTTAAGAGTATTGAAGAAAAAAAACACATAGCAATTAAAAATGGGCTTCCTGCTCCAGATTTTAAAGTGAATGCCCAATTCTTAGAG___CTCTATAATGAAGAGGTCCTTGACTTATTTGATACCACTCGTGATATTGATGCAAAAAGTAAAAAATCAAATATAAGAATTCATGAAGATTCAACTGGAGGAATTTATACTGTGGGCGTTACAACACGTACTGTGAATACAGAATCAGAG___ATGATGCAGTGTTTGAAGTTGGGTGCTTTATCCCGGACAACTGCCAGTACCCAGATGAATGTTCAGAGCTCTCGTTCACATGCCATTTTTACCATTCATGTGTGTCAAACCAGAGTGTGTCCCCAAATAGATGCT___GACAATGCAACTGATAATAAAATTATTTCTGAATCAGCACAGATGAATGAATTTGAAACCCTGACTGCAAAGTTCCATTTTGTTGATCTCGCAGGATCTGAAAGACTGAAGCGTACTGGAGCTACAGGCGAGAGGGCAAAAGAAGGCATTTCTATCAACTGTGGACTT___TTGGCACTTGGCAATGTAATAAGTGCCTTGGGAGACAAGAGCAAGAGGGCCACACATGTCCCCTATAGAGATTCCAAGCTAACAAGACTACTACAGGATTCCCTCGGGGGTAATAG___CCAAACAATCATGATAGCATGTGTCAGCCCTTCAGACAGAGACTTTATGGAAACGTTAAACACCCTGAAATACGCCAATCGAGCTAGAAATATCAAGAATAAGGTGATGGTCAATCAGGACAGAGCTAGTCAGCAAATCAATGCACTTCGTAGTGAAATCACACGACTTCAGATGGAGCTCATGGAGTACAAAACA___GGTAAAAGAATAATTGACGAAGAGGGTGTGGAAAGCATCAATGACATGTTTCATGAGAATGCTATGCTACAGACTGAAAATAATAACCTGCGTGTAAGAATTAAAGCCATGCAAGAGACGGTTGATGCATTGAGGTCCAGAATTACACAGCTTGTTAGTGATCAGGCCAACCATGTTCTTGCCAGAGCAG___GTGAAGGAAATGAGGAGATTAGTAATATGATTCATAGTTATATAAAAGAAATCGAAGATCTCAG___GGCAAAATTATTAGAAAGTGAAGCAGTGAATGAGAACCTTCGAAAAAACTTGACAAGAGCCACAGCAAGAGCGCCATATTTCAGCGGATCATCAACTTTTTCTCCTACCATACTATCCTCAGACAAAGAAACCATTGAAATTATAGACCTAGCAAAAAAAGATTTAGAGAAGTTGAAAAGAAAAGAAAAGAGGAAGAAAAAAAG___TGTGGCTGGTAAAGAGGATAATACAGACACTGACCAAGAGAAGAAAGAAGAAAAGGGTGTTTCGGAAAGAGAAAACAATGAATTAGAAGTG___GAAGAAAGTCAAGAAGTGAGTGATCATGAGGATGAAGAAGAGGAGGAGGAGGAGGAGGAAGATGACATTGATGGGGGTGAAAGTTCTGATGAATCAGATTCTGAATCAGATGAAAAAG___CCAATTATCAAGCAGACTTGGCAAACATTACTTGTGAAATTGCAATTAAGCAAAAGCTGATTGATGAACTAGAAAACAGCCAGAAAAGACTGCAGACTCTGAAAAAGCAGTATGAAGAGAAGCTAATGATGCTGCAACATAAAATTCGGGATACTCAGCTTGAAAGAGACCAGGTGCTTCAAAACTTAG___GCTCGGTAGAATCTTACTCAGAAGAAAAAGCAAAAAAAGTTAGGTCTGAATATGAAAAGAAACTCCAAGCCATGAACAAAGAACTGCAGAGACTTCAAGCAGCTCAAAAAGAACATGCAAGGTTGCTTAAAAATCAGTCTCAGTATGAAAAGCAATTGAAGAAATTGCAGCAGGATGTGATGGAAATGAAAAAAACAAAG___GTTCGCCTAATGAAACAAATGAAAGAAGAACAAGAGAAAGCCAGACTGACTGAGTCTAGAAGAAACAGAGAGATTGCTCAGTTGAAAAAGGATCAACGTAAAAGAGAT___CATCAACTTAGACTTCTGGAAGCCCAAAAAAGAAACCAAGAAGTGGTTCTACGTCGCAAAACTGAAGAG___GTTACGGCTCTTCGTCGGCAAGTAAGACCCATGTCAGATAAAGTGGCTGGGAAAGTTACTCGGAAGCTGAGTTCATCTGATGCACCTGCTCAGGACACAGGTTCCAGTGCAGCTGCTGTCGAAACAGATGCATCAAGGACAGGAGCCCAGCAGAAAATGAGAATTCCTGTGGCGAGAGTCCAGGCCTTACCAACGCCGGCAACAAATGGAAACAG___GAAAAAATATCAGAGGAAAGGATTGACTGGCCGAGTGTTTATTTCCAAGACAGCTCGCATGAAGTGGCAGCTCCTTGAGCGCAGGGTCACAGACATCATCATGCAGAAGATGACCATTTCCAACATGGAGGCAGATATGAATAGACTCCTCAAG___CAACGGGAGGAACTCACAAAAAGACGAGAGAAACTTTCAAAAAGAAGGGAGAAGATAGTCAAGGAGAATGGAGAGGGAGATAAAAATGTGGCTAATATCAATGAAGAGATGGAGTCACTGACTGCTAATATCGATTACATCAATGACAGTATTTCTGATTGTCAGGCCAACATAATGCAGATGGAAGAAGCAAAG___GAAGAAGGTGAGACATTGGATGTTACTGCAGTCATTAATGCCTGCACCCTTACAGAAGCCCGATACCTGCTAGATCACTTCCTGTCAATGGGCATCAATAAG___GGTCTTCAGGCTGCCCAGAAAGAGGCTCAAATTAAAGTACTGGAAGGTCGACTCAAACAAACAGAAATAACCAGTGCTACCCAAAACCAGCTCTTATTCCATATGTTGAAAGAGAAGGCAGAATTAAATCCTGAGCT)AGATGCTTTACTAGGCCATGCTTTACAAG___AAAATGTAGAGGATAGTACTGATGAGGATGCTCCTTTAAACAGCCCAGGATCAGAAGGAAG___CACGCTGTCTTCAGATCTCATGAAGCTTTGTGGTGAAGTGAAACCTAAGAACAAG|ATACTTATTCAGTACCTATGCTGTGTGACATGCTATTTTGGCTACAGGATTGAAATCTTGTTTAATTCCAAAACCTTTGTTTTCAACCATGGCAAATGATGCTTCCCTTGTACACTGACCTTTTCCCGAATACTCACATGTTGCTAAGCACTATGGTAAGCACCTTATGGAC...GGTGATCAGCCCAGCTGAATGATGGGGTGAAGATGGAGGCAAGGAAGGGAATTCTCTCTGTGGACTGCATCAGGAAGCCTGCCCATGAGCTTCTCAGGATACCTCATCCTTGGACCTCCTCCCCCTAGCTGACCCATGGACACCCCAAAC MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQQEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVNIVEEELGIISRAVKHLFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHEDSTGGIYTVGVTTRTVNTESEMMQCLKLGALSRTTASTQMNVQSSRSHAIFTIHVCQTRVCPQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSERLKRTGATGERAKEGISINCGLLALGNVISALGDKSKRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSPSDRDFMETLNTLKYANRARNIKNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESINDMFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIHSYIKEIEDLRAKLLESEAVNENLRKNLTRATARAPYFSGSSTFSPTILSSDKETIEIIDLAKKDLEKLKRKEKRKKKSVAGKEDNTDTDQEKKEEKGVSERENNELEVEESQEVSDHEDEEEEEEEEEDDIDGGESSDESDSESDEKANYQADLANITCEIAIKQKLIDELENSQKRLQTLKKQYEEKLMMLQHKIRDTQLERDQVLQNLGSVESYSEEKAKKVRSEYEKKLQAMNKELQRLQAAQKEHARLLKNQSQYEKQLKKLQQDVMEMKKTKVRLMKQMKEEQEKARLTESRRNREIAQLKKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPMSDKVAGKVTRKLSSSDAPAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGNRKKYQRKGLTGRVFISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKRREKLSKRREKIVKENGEGDKNVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEGETLDVTAVINACTLTEARYLLDHFLSMGINKGLQAAQKEAQIKVLEGRLKQTEITSATQNQLLFHMLKEKAELNPELDALLGHALQENVEDSTDEDAPLNSPGSEGSTLSSDLMKLCGEVKPKNK|iliqylccvtcyfgyrieilfnsktfvfnhgk* 11CO039 ENSG00000234684.7 ENSG00000100558.9 +/+ -/- chr20:1325529 chr14:67397826 exon/splice-site CDS/splice-site translocation 1 1 0 15 76 medium . . |Domain_found_in_Dishevelled__Egl-10__and_Pleckstrin_(DEP)(100%),PH_domain(100%) . . ENSG00000234684.7 ENSG00000100558.9 ENST00000609470.6 ENST00000216446.9 downstream downstream . ^(GATCCCTAGCGGCTGCAGAGTGGAACATGGCGGCCTCCTTGCCGCTTGCGTTACCAGA)GTCCACCCGGCCTCGTGCTTTCTCCGGGCGCCCGTAGCTGGCGCCGGCATCCACAAAAATAGATCAG|GGCCACATTGTCCACAACTGGAAGGCGCGATGGTTCATCCTTCGGCAGAACACGCTGGTG(TACTACAAGCTTGAGGGGGGTCGGAGAGTGACCCCTCCCAAGGGCCGGATCCTCCTGGATGGCTGCACCATCACCTGCCCCTGCCTGGAGTATGAAAACCGACCG___CTCCTCATTAAGCTGAAGACTCAAACATCCACGGAGTACTTCCTGGAGGCCTGTTCTCGAGAGGAGCGGGATGCCTGGGCCTTTGAGATCACCGGGGCTATTCATGCAGGGCAGCCGGGGAAGGTCCAGCAGCTGCACAGCCTGAGAAACTCCTTCAAGCTGCCCCCGCACATCAGCCTGCA___TCGCATTGTGGACAAGATGCACGATAGCAACACCGGAATCCGTTCAAGCCCCAACATGGAGCAGGGAAGCACCTATAAAAAGACCTTCCTCG___GCTCCTCCCTGGTGGACTGGCTCATCTCCAACAGCTTCACGGCCAGCCGTCTGGAGGCGGTGACCCTGGCCTCCATGCTCATGGAGGAGAACTTCCTCAGGCCTGTGGGTGTCCGAAGCATGGGAGCCATTCGCTCTGGGGATCTGGCCGAGCAGTTCCTGGATGACTCCACAGCCCTGTACACTTTT___GCTGAGAGCTACAAAAAGAAGATAAGCCCCAAGGAAGAAATTAGCCTGAGCACTGTGGAGTTAAGTGGCACGGTGGTGAAACAAGGCTACCTGGCCAAGCAG___GGACACAAGAGGAAAAACTGGAAGGTGCGTCGCTTTGTTCTAAGGAAGGATCCAGCTTTCCTGCATTACTATGACCCTTCCAAA___GAAGAGAACAGGCCAGTGGGTGGGTTTTCTCTTCGTGGTTCACTCGTGTCTGCTCTGGAAGATAATGGCGTTCCCACTG___GGGTTAAAGGGAATGTCCAGGGAAACCTCTTCAAAGTGATTACTAAGGATGACACACACTATTACATTCAGGCCAGCAGCAAGGCTGAGCGAGCCGAGTGGATTGAAGCTATCAAAAAGCTAACATGACAAGGACCTGAGGGAACCAGGATTCCTCCCTCCTACCAGATGACACAGACAAGAGTTCCTGGAGAATGGGAGTGTTAAGACTTTTGACTTCTTTGTAAGTTTTGTACTGCTTTGGAGAGTGAATGCTGCCAAGAGTTCCTCAGATTACAAACAGCAGTGGTGCCATTTCCTTCCCCATCTTCATGTTACAAACCTGGAAAGGCTAGAACAGCCATTAGGCGTCAGCATCTTGACTTTTCCCCAGCATCACAAACAGCCATTTCCTCGGGCACCAAAGTAGGTTCCCTTTGTTGGAACAATTACACTGGCCATGCCATAATGTTGAATAAAACTCTCTTCTTATGA)$ . 11CO042 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 19 2 38 49 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) CCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO042 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 14 9 1 71 40 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTC)ACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO042 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 7 0 133 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),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAAC)ACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTaCGTATCT...TCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO042 ENSG00000092853.14 ENSG00000238242.2(102038),ENSG00000226476.6(263913) -/- ./- chr1:35743141 chr1:60251822 CDS/splice-site intergenic duplication 8 6 0 34 7 high out-of-frame . . . . ENSG00000092853.14 . ENST00000251195.9 . upstream downstream duplicates(1) ^(AGCACTGCTGGGCTGGAGACGGCGGGAGCCGCTGCTCTCCGGCTGAGGGAATCAGAGACAGCTCCGTCCCTAGTGGAGCGCAGGGGAGGCAGAAGTCATGACAGGCGAGGTGGGTTCTGAG___GTTCACCTAGAAATCAATGACCCAAACGTCATTTCACAAGAGGAAGCAGATAGTCCTTCAGATAGTGGACAGGGCAGCTATGAAACAATTGGACCCTTGAGTGAAGGAG___ATTCAGATGAAGAGATATTTGTAAGTAAGAAGTTGAAAAACAGGAAGGTTCTACAAGACAGTGATTCCGAAACAGAGGACACAAATGCCTCTCCAGAGAAAACTACCTATGACAGTGCCGAGGAGGAAAATAAAGAGAATTTATATGCTGGGAAAAATACAAAAATCAAAAGGATTTACAAAACTGTGGCAGACAGTGATGAAAGTTACATGGAAAAGTCTTTGTATCAGGAAAATCTTGAAGCGCAAGTGAAACCTTGCTTAGAGCTGAGTCTTCAGTCTGGAAACTCTACAGACTTTACCACTGACAGAAAGAGTTCCAAAAAGCACATACATGATAAAGAAGGAACTGCAGGAAAAGCAAAAGTAAAATCAAAAAGAAGACTTGAGAAAGAGGAGAGAAAAATGGAAAAAATTAGACAGCTAAAAAAGAAGGAAACAAAAAACCAG___GAAGATGATGTAGAACAGCCATTTAATGACAGTGGCTGTCTTCTTGTGGATAAAGACCTTTTTGAAACTGGGTTGGAGGATGAAAATAACTCTCCATTGGAAGATGAAGAGTCATTAGAATCAATAAGAGCAGCTGTAAAAAACAAAGTAAAAAAGCACAAG___AAAAAAGAACCATCTTTGGAGAGTGGGGTCCATTCATTTGAGGAAGGAAGTGAGTTATCAAAAGGAACCACGAGGAAG___GAAAGAAAGGCAGCCAGATTAAGTAAAGAAGCATTAAAACAACTGCATAGTGAGACTCAGCGCCTTATTCGAG___AGTCTGCACTGAACCTTCCATATCATATGCCTGAGAATAAAACCATTCATGATTTCTTCAAACGTAAACCCCGGCCCACTTGCCACGGAAATGCCATGGCACTATTGAA___GTCATCTAAATATCAGTCAAGCCATCACAAAGAAATCATAGACACTGCAAATACTACTGAAATGAACAGTGATCACCATAGTAAAGGTTCTGAGCAGACAACAGGTGCAGAAAATGAAGTGGAAACTAATGCACTCCCTGTAGTTTCAAAGGAAACCCAGATCATTACTGGATCAGATGAGTCTTGCAGGAAGGATTTGGTAAAAAATGAAGAGCTAGAAATTCAGGAGAAACAGAAGCAGAGTGACATTAGACCTTCACCTGGGGACAGCTCAGTGTTGCAACAGGAATCCAACTTCCTCGGGAACAATCACAGTGAGGAATGTCAGGTTGGAGGGCTTGTAGCATTTGAACCTCATGCCCTGGAGGGTGAAGGCCCCCAAAATCCAGAAGAAACAGATGAGAAAGTGGAAGAGCCTGAGCAGCAAAATAAATCATCAGCAGTTGGGCCACCTGAAAAAGTGAGACGGTTTACTCTGGATAGACTTAAGCAACTGGGAGTAGATGTTTCCATTAAACCACGGCTAGGTGCTGATGAAGATTCCTTTGTGATACTTGAACCTGAAACCAACAGAG___AACTGGAAGCCTTGAAGCAGCGTTTCTGGAAGCATGCTAATCCAGCAGCCAAACCCAGGGCTGGTCAGACAGTGAATGTGAACGTCATAGTGAAAGACATGGGCACTGATGGAAAGGAAGAGCTAAAAGCAGATGTGGTACCTGTGACTTTAGCACCTAAGAAGTTGGATGGAGCAAGCCACACAAAACCAG___GTGAAAAGCTTCAGGTGTTAAAAGCTAAACTGCAAGAAGCAATGAAACTCCGAAGGTTTGAGGAGCGCCAGAAGCGCCAAGCACTGTTTAAATTAGATAATGAAGATGGGTTTGAGGAAGAGGAGGAGGAAGAGGAAGAAATGACAGATGAGTCTGAGGAAGATGGAGAAGAGAAGGTAGAGAAAGAAGAGAAAGAGGAAGAACTAGAGGAAGAGGAGGAGAAAGAAGAGGAGGAGGAAGAAGAAGGAAATCAGGAG___ACTGCAGAATTCCTTCTTAGTAGTGAAGAAATAGAAACAAAAGATGAAAAAGAAATGGATAAAGAAAATAATGATGGCAGTAGTGAAATTGGCAAGGCAGTTGGCTTCCTCTCTGTTCCCAAGTCTCTCTCATCAGATTCTACTTTACTTCTGTTTAAGGACAGCTCTTCCAAGATGGG___TTACTTTCCTACTGAAGAAAAATCAGAAACAGATGAAAACTCAGGCAAGCAGCCTAGCAAACTGG___ATGAGGATGATTCATGTTCATTGCTAACAAAGGAGAGCAGCCACAATAGCAGCTTTGAGCTGATTGGCTCCACGATTCCATCCTATCAGCCTTGCAACAGACAAACAGGCCGTGGGACCAGTTTTTTCCCTACAGCAGGAGGATTCAGATCTCCTTCCCCTGGGCTATTTCGAGCCAGTTTGGTCAGCTCAGCTTCTAAG___AGTTCAGGGAAACTGTCTGAGCCTTCACTTCCCATAGAGGATTCCCAGGATCTGTATAACGCCTCCCCAGAGCCTAAGACACTTTTCCTAGGAGCAGGAGACTTCCAGTTCTGTTTAGAAGATGACACTCAGAGCCAACTGTTGGATGCAGATGG___GTTCTTAAATGTTAGAAACCACAGGAATCAGTACCAAGCTTTGAAGCCTCGATTGCCATTGGCCAGTATGGATGAGAATGCCATGGATGCCAACATGGATGAGCTGTTGGATTTGTGTACTGGAAAGTTCACATCTCAGGCTGAAAAACATCTACCCAGGAAGAGTGACAAGAAAGAGAACATGGAGGAACTTCTGAACCTTTGTTCAGGAAAATTCACTTCTCAGG___ATGCCTCCACTCCAGCCTCATCAGAGTTAAATAAACAGGAGAAGGAGAGCAGCATGGGTGATCCAATGGAAGAAGCACTTGCTCTTTGCTCAGGCTCTTTTCCCACAGACAA___GGAAGA)GGAAGACGAGGAGGAGGAATTTGGAGACTTTCGGCTTGTTTCAAATGATAATGAGTTTGATAGTGATGAG___GATGAACACAGTGACTCTGGTAATGATCTGGCACTGGAAGACCATGAAGATGATGATGAAGAAGAACTCCTGAAGCGATCTGAGAAGTTGAAAAGGCAAAT|GAAGAAAAATTTGAACACAAAGAGACACCAAAGATGCTAGTGCAGATAAGAGACCATGTGAGGACAGTGAGAAGACAGCTCCTTGCAACTTAGGAGGGAGGCCTCAGAAGAAACCAACCCTGGTGACATATTGATCTCAAACACCTCGCCCTAGAATTGTGAGGAAATACATTTTTGTTGTTGAAGTCACACAATCTGTGGTATCTTGTTACACCAGCTCTGGAAAACGAATACAGGTGAGGAAATGAG MTGEVGSEVHLEINDPNVISQEEADSPSDSGQGSYETIGPLSEGDSDEEIFVSKKLKNRKVLQDSDSETEDTNASPEKTTYDSAEEENKENLYAGKNTKIKRIYKTVADSDESYMEKSLYQENLEAQVKPCLELSLQSGNSTDFTTDRKSSKKHIHDKEGTAGKAKVKSKRRLEKEERKMEKIRQLKKKETKNQEDDVEQPFNDSGCLLVDKDLFETGLEDENNSPLEDEESLESIRAAVKNKVKKHKKKEPSLESGVHSFEEGSELSKGTTRKERKAARLSKEALKQLHSETQRLIRESALNLPYHMPENKTIHDFFKRKPRPTCHGNAMALLKSSKYQSSHHKEIIDTANTTEMNSDHHSKGSEQTTGAENEVETNALPVVSKETQIITGSDESCRKDLVKNEELEIQEKQKQSDIRPSPGDSSVLQQESNFLGNNHSEECQVGGLVAFEPHALEGEGPQNPEETDEKVEEPEQQNKSSAVGPPEKVRRFTLDRLKQLGVDVSIKPRLGADEDSFVILEPETNRELEALKQRFWKHANPAAKPRAGQTVNVNVIVKDMGTDGKEELKADVVPVTLAPKKLDGASHTKPGEKLQVLKAKLQEAMKLRRFEERQKRQALFKLDNEDGFEEEEEEEEEMTDESEEDGEEKVEKEEKEEELEEEEEKEEEEEEEGNQETAEFLLSSEEIETKDEKEMDKENNDGSSEIGKAVGFLSVPKSLSSDSTLLLFKDSSSKMGYFPTEEKSETDENSGKQPSKLDEDDSCSLLTKESSHNSSFELIGSTIPSYQPCNRQTGRGTSFFPTAGGFRSPSPGLFRASLVSSASKSSGKLSEPSLPIEDSQDLYNASPEPKTLFLGAGDFQFCLEDDTQSQLLDADGFLNVRNHRNQYQALKPRLPLASMDENAMDANMDELLDLCTGKFTSQAEKHLPRKSDKKENMEELLNLCSGKFTSQDASTPASSELNKQEKESSMGDPMEEALALCSGSFPTDKEEEDEEEEFGDFRLVSNDNEFDSDEDEHSDSGNDLALEDHEDDDEEELLKRSEKLKRQm|kknlntkrhqrc* 11CO042 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 6 5 0 20 163 high . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream duplicates(1) CTGGGTTCAGGGGCTTTCCGCCGCTCTGGGTTCACAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAGcCGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGG(GTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 11CO042 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 16 82 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1),mismatches(1) CGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGG(GAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO042 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 20 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCT(GGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO042 ENSG00000141655.17 ENSG00000134444.14 +/+ +/+ chr18:62360049 chr18:62266701 CDS/splice-site CDS/splice-site duplication 0 4 0 34 46 medium out-of-frame . TNFR/NGFR_cysteine-rich_region(100%)| . . ENSG00000141655.17 ENSG00000134444.14 ENST00000586569.3 ENST00000644646.1 downstream upstream . ^(AGAGGCCGCTGAGGCCGCGGCGCCCGCCAGCCTGTCCCGCGCCATGGCCCCGCGCGCCCGGCGGCGCCGCCCGCTGTTCGCGCTGCTGCTGCTCTGCGCGCTGCTCGCCCGGCTGCAG___GTGGCTTTGCAGATCGCTCCTCCATGTACCAGTGAGAAGCATTATGAGCATCTGGGACGGTGCTGTAACAAATGTGAACCAG___GAAAGTACATGTCTTCTAAATGCACTACTACCTCTGACAGTGTATGTCTGCCCTGTGGCCCGGATGAATACTTGGATAGCTGGAATGAAGAAGATAAATGCTTGCTGCATAAAGTTTGTGATACAG___GCAAGGCCCTGGTGGCCGTGGTCGCCGGCAACAGCACGACCCCCCGGCGCTGCGCGTGCACGGCTGGGTACCACTGGAGCCAGGACTGCGAGTGCTGCCGCCGCAACACCGAGTGCGCGCCGGGCCTGGGCGCCCAGCACCCGT___TGCAGCTCAACAAGGACACAGTGTGCAAACCTTGCCTTGCAGGCTACTTCTCTGATGCCTTTTCCTCCACGGACAAATGCAGACCCTGGACCAA___)CTGTACCTTCCTTGGAAAGAGAGTAGAACATCATGGGACAGAGAAATCCGATGCGGTTTGCAGTTCTTCTCTGCCAGCTAGAAAACCACCAAATG|GTAAAACCTCAGTTCCAGGAGATTTTAAGACTATCTGAAGAAAACATTG___ATTCCTCAGCAGGAAATGGGGTCCTCACTAAAGCTACAGTCCCCATTTATGCAACAGGAGTCCTTACGTGTTATATTCAG___GAAGAAGACCGAAAACTGTTAGTTGGATTCTTAGAAGATGTAATGACG(CTGCTTTCATTATCTCATGCTCCTCTTGATAGCCTGAAGGCTTCTTTTGTGGAATTGGG___TGCAAACCCAGCCTACCATGAGTTACTATTAACTGTTTTGTGGTATGGTGTTGTCCATACTTCAGCACTCGTGAGGTGTACTGCTGCTAGAATGTTTGAG___CTGTTGGTGAAGGGGGTGAATGAAACTCTGGTAGCTCAGAGGGTTGTTCCTGCTCTCATTACTCTCTCCAGTGACCCTGAAAT___CTCTGTCAGGATTGCCACAATTCCAGCCTTTGGCACTATTATGGAAACAGTAATTCAAAGAGAG___TTGCTGGAAAGAGTGAAAATGCAGTTGGCTTCTTTCCTGGAAGATCCTCAGTATCAAGACCAACATTCTTTGCATACAGAGATCATAAAAACATTTGGTAGAGTTGGCCCTAACGCAGAACCCAGGTTCCGAGATGAGT___TTGTTATACCACATTTGCATAAGTTAGCCTTGGTGAACAACTTACAGATTGTGGATTCTAAAAGACTGGACATTGCTACGCATCTTTTTGAAGCCTACAGTGCACTTTCCTGTTGTT___TCATTTCAGAGGATTTAATGGTTAATCACTTTTTACCTGGTCTCAGATGTTTACGGACTGACATGGAACATCTCTCTCCAGAGCATGAG___GTTATTTTAAGTTCCATGATAAAAGAATGTGAACAAAAAGTTGAAAACAAGACCGTCCAAGAGCCTCAAGG___CTCAATGTCAATTGCTGCAAGCTTAGTGAGTGAAGATACAAAGACCAAGTTTTTGAACAAAATGGGCCAGTTGACAACATCAGGTGCCATGTTGGCCAATGTATTTCAGAGAAAGAAGTAGAAGCAGGAAAGAAGCCCCCAGTAAACACTAAGATGGACCTCAAGCCGACTGGTTCCTTGTACTTGAAGTACTTGCCTTTTTTGTTTCCTCAGTTTTATGTTCTTGCATTATAATTTTATCCTAACCTCCAAAGATATTTGCACTGCTTTTAATTACTGCTGTATATTTGTTGATTTTGGAGTTACAACTGTGGTGATAGAAAATTGAGTTGATGGTCTGTACCAAGTCCCTTGTCTATGTTCTTGTCTTTCAGAATAATTTTTATATAAATATATATATAGTGAAGAAGTTTTTTTTAATTTTTGGATGGGATATTCGCAAATATCTGTATTATACACTAAGCTATTACAATGGTACTTAAAATAATGTAAATTTGAAGTCATTGTTATAAAATAATAAAGTGGAGATTACTTAAGTATTTAAATTATGAAAGAATAATGCAGACTTTTTATTGTTTCTTAACTGACTAGAAAGAGCCACCAGCATTACTCTGTGCCTTTTGGACATCAGTTTGTGTGTTCTGTAGGAATTGTGTGCATTCCATTCACACAGTATTTCTTTAGGATGCTGTGATGATTTGAATTACAAATCCTACAGTCAATAGCTAAAGACGAAACCTTCATTTCAGAACTCTCATGAATATTCTTTAAGTGCTATTTAAACCTCCCCAGCACTTAGATGCATATAATGGACTTACCTGAGGAAAGACAGCACATAGGCATGGGGAGAGGTAACCAAGGTGAATTTTACAAACTGGTGTATAGTAGATTTAAATGCTCAAAAATAAATGTAACTGAGAAGAGTTAATAATTGTGAGATTTTTCCCAAATTGAGATACAGAAGAAAATATAGTTTGAATCTGAAATTTAACACTTATTTATGTAAAACACTTTATTTAAGATATTTTCTAATGATTTTAATTTTAGAGAGTACCTTTTCATTCTGTGTGTTACAGAGAAGTACTGAAAAGTTAAGGACACTTGGGGGCTACTTTTTTCCCTCTAAACTAAAAAAGACATTGGCTGAATTATAACTAGTTAGTTATCACCTCGTCCCTTAAAGTCAGTGACCTCCTGTGTTTGATGTATATTACATAGAGTCTTAAGTCAGTGTACAGTTCCACTGGAATTTGACAGTTGTCTCTACAGTCATGCAACTCGAAGTAGAAAAGAGTGCTGGACATAGGAAGGGGGTGCTTGGTTTGAGGGGTTAATGTGAGGCCTTTTTGAAAAATGAATATTTTGATAAAAAGAATTCTTGTTTTAGCACAGTTGATGCACATAAGTGATTCTCATATTTGTTGTATAAACTGGTTTAATACATTTGGAACATAGTTGGATTACATTCATTTCCTGGGAAAGCTAGCTTACCATACATTCAAGTTTATAAAACAATTTGCCATAGGCAAAGCCATTTAAAAAGTTCATTCTGAAATTATTTCATTTACCTACAGTGAAATAATTGTGAACTAAGTAGTCTTTCTGAAAACTGTTGGGTTCTAGGCATTCCTGAGAAATTGAAAGTGGCTACCTTTCATGTCAAAAATGTTGATCTATTATAAATAAAATGTTTTTGCATATGTTTTTGATTTGGTTTGGGCTATGCATTTTACTTTCGTTTTGAAACACTATACTTTCTATTAAGCAAAAAAATGAGAAAAGCCTATATTCATGAGAATATACTAATATTTTGTAAATATAATTTATATAAATTTACCTATTTTGGTTTATTTTTACTAAAAGGGGACCATGTTGCTATAAAACTAATACATTTCAGAGGTACCTGGAAGAAAAATGTTTAAACTCTGATTTGCTTCAAACTATAGTAGAATATGTGTATGTTTGTTATCAGGTGAATGGGTAGAATGTATTTTTATTGTGAACATTTTTCTTAATTAATGAATATATTTATTTAAGTGCTAATGTTTTTTTAAAGGCAATAGTAGGCAAGATTCACAGTGTATTTCAAGTGAGAGTCTCTTTTCTTAAATATTTTAATATCATTAAGATTTCACATTGTGGTTTTGTTTTTTGTTTGTTTGTTTGTTTTTAGTAAAATATGTCTTGTCTTTACAGACAAGACAGACACTAATCATTGAGACTGAGATTTGGACTGAGTCCAAAATAGGGCATAAAACTCCCATACTCATTCCTTTTAAACAGAAGTAAACTTACGGTACAAGTTTTTAAGTGTTCAACTTAATGAAAAACTAAGTTTGCAAAGTAATGAAAAGCTAATTTGAAATTATACCTGTGTTTCCAGAGTAATCCAGAGATTAAATTTTTTCAGAAATCCAGAAGTGCCATAATTACTAATTTAGCTGAATTCTTCCAAGAACAGTGCTTGAATGATGGCAGTATCTATCTCTATACATAGGTGTCTATGACCTTCATTGGTTTGCATTATTCACCCCTTTAGAGAGATTATTTTGCTAAACATCAAATTGATTTTCAACCTGAACGAAATTGTGAGTAATTTAAGTCATGCCATCCTCATTATCCATAGCTTTTAGGATATGTCACTACTATAGGATATGTCACTACTATACACTATAATTCTAATGGGGGTCTCAAGTCAAGGTGCTATCACATTCTTGTTTTTAAAAAGTTGGCTCAAATAGTCTCTCTTAAAATTTAGAGAGGTGAGATCAGGATGTATTGAATTGTCTTTTCATCATCCCATTTTTCAAGACAACCTATTTTGGACCATTATTTGAACTCCAAGGATGTAACTTTCTGTAGTTACTACCCTGCTGATCTTTGAACTGCAGTAGCTAACTACAGCTAACATTCTGTGCTGGTTATATTTTCTTAACTATTCTTTGTGTAAAGATTGTACTAATTTTTTCAGTTCATTAAAGAAAGTTACACTTTAGCTCTTCAATGTTACACTTAAAGAGCTTTGGACTGTGCGCTGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGACGAATCACTTGAGGTCAGTAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCGCCTCTAAAAATACAAAAATTAGCCAGGCGTGGTGACGTGGGCCTGTAATCCCTGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCTGGGAAGCGGAGATTGCAGTGGGCCGCTATTGCACCACTGCACTCCAGCCTGGTCCACAGAGCAAGACTCCATCTCAAAAACAAAAAAAAAAGCTTTGTAAGTAGCAATTCTAATTCATAATTCATGAAATACTCCAGATTAGCCAGGTAACAAAATTCAACCTTCAAGGTTGGATGTTAATTCTCTTACAAGAAAACTACAAAATAAATTTAGCCTTTTGTATGAGTAGACATCTATTTCAAAGTTCTACTGTAACTTTACAGTGTGCTTAGTTTTGATACTATTTTTTTCAGTACATTAAAAAGAAATAGAGACTGGCCGGGCACGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGAAGATCACTTGAGGCCGGGAGTTCAAGACTAGCCTGACCAACATGGTGAAACCGTCTCTACTAAAAATACAAAATTAGCCGGGTATGGTGGCGCACACCTGTAATCCCAGCTACTCTGGAGTCTGAGGCAGGAGAATCACTTGAACCCAGGGAGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCTAGCCTGGGCGAGAGTGAGACTACATCTCAAAAAAAAAAAATAATAATAGAGACAAACTACTAATCAAAAATAATGTATCAGGTAAGTTTCTGCATATTGGTAAAAAAATTGAATTTTAGACAATTTTCATACTGCGTAAGAATGTGTTCTGTATGCATTTTGTGTGTGAGCCTACACTGTGATCACAGTCTCCAAGTGGCACATCTCATCATTCATATTTTCTCTTCAGAACCAAGTACAGGAAACTGTTTTGATTGTCTTTTTTGTGGTTTACTTTGCATGTTTAAGAAAAATCTTAAAACATCCTATTCTCTGTTAAGACCACACCAATCATAAAGTACATAACAGTTAATATAAACTTAATATTGCATCAAAAACAAATATATTTTATTTTGATAGTATATAAATAATATCTTCAGTTCAGTGTTATGAGGAATGTAAACTGTTTGCTTTTCTCCAGAGAGGCGTCAATAAATCTGGGAAATTCTGTCCCCCGCATATCTACATGGAGAACTATATTACTATTTTAATTCCTTTTATTCCATTACAGACTAATCCACCATATTTATTTCAGTTAGATCATTGCATGAATAGATTTCTGGAGGGACTTTAATGTAGTAAAATATATGTAGTTTATAAACTGGTATTTTGTGTTGTGTGTTATGTATATTAAATTCTTGGTCAGTGATCTTTTTAGGGTGTCATTTGTTGATAGTAATCTGCTTTTTATAATTTTAACAAACTGCTTCCCTCCTGGAAAAGTAACCCTTTCTTAATTGTTGGCATTTTAAACCTTAGATATTTTCAGGACATGCATCTTCAATGAAGCTGGAAATGTTACAGATAATCTCTCTATAAAATGTACATTGCTGAGTAATATAAATATAATAATTTCTCATTGACTTTATGATTTCATAGATGCTTTATCTTCATTTCTGATCATTACTTGACAGTTCTTTAAATTCTTAGCTTTCTCTGTTCATAAGCCTTCCCATCATGTATTAAATAATG)$ MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKCTTTSDSVCLPCGPDEYLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHWSQDCECCRRNTECAPGLGAQHPLQLNKDTVCKPCLAGYFSDAFSSTDKCRPWTNCTFLGKRVEHHGTEKSDAVCSSSLPARKPPN|gktsvpgdfkti* 11CO043 ENSG00000205758.12 ENSG00000205726.15 -/- +/- chr21:33621996 chr21:33802359 CDS/splice-site intron duplication/5'-5' 7 17 1 37 39 high out-of-frame . Alcohol_dehydrogenase_GroES-like_domain(100%)| . . ENSG00000205758.12 ENSG00000205726.15 ENST00000290244.9 . upstream downstream duplicates(1),low_entropy(1) ^(TTTATTGGTAGTCCTTGGGGCGGGGCCTCGCCTCTTTCTCCGCCCCCGAGCGGAACATGACGGGAGATGTAGTTCCGAGACCGGTTGCCATGGCGTTCTGGACAGCCTCGCGAGTCCGACCCCGCCCTTCAGGAGTGACGAGCGGCCTGACCAATGGGAGCAGGGGGCGGGCTCTCTGACGAAGGACTGGAAGGTGGCGGTGGTGAAGGTGCAGGCCGTTGGGGCGGCTCAGAGGCAG___GTGACTATGAAAGGCTTATAT)TTCCAACAGAGTTCCACAGATGAAGAAATAACATTTGTATTTCAAGAAAAG___GAAGATCTTCCTGTTACAGAGGATAACTTTGTGAAACTTCAAGTTAAAGCTTGTGCTCTGAGCCAGATAAATACAAAG___CTTCTGGCAGAAATGAAGATGAAAAAGGATTTATTTCCTGTTGGGAGAGAAATTGCTGGAATTGTATTAGATG|CATATCTAAACTCTACGCATCTCATCAAGCTGGTGGTTAACTAGCCAATTCGAGGAAAAGGTTTCAACAGGCCTAGGATTACAAGTGAAGCCCAGATATGTTCCCGAAAAAGAGCAACACTTTCTCATTAAGATACAGATCACCTGCAACATTTCCTCATCATCACATTTCATAACATTCCCTTACTTTAGGATGAGAGCGAGCTGCTTCTCTGC MKGLYFQQSSTDEEITFVFQEKEDLPVTEDNFVKLQVKACALSQINTKLLAEMKMKKDLFPVGREIAGIVLD|aylnsthliklvvn* 11CO043 ENSG00000205758.12 ENSG00000249209.2 -/- -/- chr21:33621996 chr21:33802359 CDS/splice-site intron duplication 7 17 1 37 39 high out-of-frame . Alcohol_dehydrogenase_GroES-like_domain(100%)| . . ENSG00000205758.12 ENSG00000249209.2 ENST00000290244.9 . upstream downstream duplicates(1),low_entropy(1) ^(TTTATTGGTAGTCCTTGGGGCGGGGCCTCGCCTCTTTCTCCGCCCCCGAGCGGAACATGACGGGAGATGTAGTTCCGAGACCGGTTGCCATGGCGTTCTGGACAGCCTCGCGAGTCCGACCCCGCCCTTCAGGAGTGACGAGCGGCCTGACCAATGGGAGCAGGGGGCGGGCTCTCTGACGAAGGACTGGAAGGTGGCGGTGGTGAAGGTGCAGGCCGTTGGGGCGGCTCAGAGGCAG___GTGACTATGAAAGGCTTATAT)TTCCAACAGAGTTCCACAGATGAAGAAATAACATTTGTATTTCAAGAAAAG___GAAGATCTTCCTGTTACAGAGGATAACTTTGTGAAACTTCAAGTTAAAGCTTGTGCTCTGAGCCAGATAAATACAAAG___CTTCTGGCAGAAATGAAGATGAAAAAGGATTTATTTCCTGTTGGGAGAGAAATTGCTGGAATTGTATTAGATG|CATATCTAAACTCTACGCATCTCATCAAGCTGGTGGTTAACTAGCCAATTCGAGGAAAAGGTTTCAACAGGCCTAGGATTACAAGTGAAGCCCAGATATGTTCCCGAAAAAGAGCAACACTTTCTCATTAAGATACAGATCACCTGCAACATTTCCTCATCATCACATTTCATAACATTCCCTTACTTTAGGATGAGAGCGAGCTGCTTCTCTGC MKGLYFQQSSTDEEITFVFQEKEDLPVTEDNFVKLQVKACALSQINTKLLAEMKMKKDLFPVGREIAGIVLD|aylnsthliklvvn* 11CO043 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 9 1 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 duplicates(1),low_entropy(2),mismappers(1),mismatches(2) GGATGCCTGGGGCTGG___...AGC?CTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAG(CCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO043 ENSG00000197265.9 ENSG00000253377.2 -/- +/+ chr8:30653433 chr8:31384157 CDS/splice-site exon/splice-site inversion 7 12 0 59 26 high out-of-frame . . . . ENSG00000197265.9 ENSG00000253377.2 ENST00000355904.9 ENST00000655813.1 upstream upstream duplicates(4) ^(ACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGCCTCAGCTACCGCCGCTGCCGCCGCCGCCGCCGCCACCGCCAGTGGTGAGACCCCGACCTGGCGGGTCAGCGCTGGGCGTGCGTGCGGGCAGGCGGGGGCGCTGA)CGAGAAGCAGGAAGAGGGTGCAGTGCCGGCGTGGGCGGCCGGCCGAGGCGGAGGCGCAGGAAGGGGGCGGCGAGTCGTGCGAGGCTGCCCTTCTCACTCAG___CATTATGGATCCAAGCCTGTTGAGAGAAAGGGAGCTGTTCAAAAAACGAGCTCTTTCTACTCCTGTAGTAGAAAAACGTTCAGCATCTTCTGAGTCATCATCATCATCGTCAAAGAAGAAGAAAACAAAGGTAGAACATGGAGGATCGTCAGGCTCTAAACAAAATTCTG|CTCCTACAGCAAAAGAAGTACTAAGAGGAAAGTTTATAGTGATAAGCACCTACATAACAAAAAACTTCAAATAAACAACCTAATGAGGCATCTTAAGGAATGAGAAAAGAGCAAACTGAATACAAAATTAGTAGAAGAAAAGAAATAATAAAGTTCACAGCAAAAATAAATGAAGAAAACAATACAAAAGATCAATAAAATAAAAATTTGTTTTTTTGAACAGATGAACAACATTGACAAACCTTCAGGCAGACTAAGAAAAAAAAGAG(CAAAAAACCCAAATAAATAAAATTAGAGATGAAAGAGGAGACATTGCAGCTGATTTCACAGAAATTCAAAGTATCATTACAGGCTGCTATGAACAACTATATGCCAATAAATGGGAAAACCTGGAAGAAATGGATAAATTTCTAGAAAAATACAACCTACCAAGATTGAACCATGAAGAAATCCAAAACCTGAACAGATCAATAACAAGTAATAAGATCGAAGCTGTAATAAAAAGTCTCCCAGAAAAGCAAAGCCTAGGATTCAATGGCATCACTGCTGAATTTTATCAGACATTAAAAAAGAGCTAAACCCTATTCAAATTATTCCAAAAAACTTATTCTACAAGGCGAGTATTACACTAATACCAAAACCAGACAAAGATGCATAAAAAAAGAAAACAATATGCCAATATCCCTTATGAACATTGATGCAAAAATCCTCAACAAAATACTAGTAAACCAAATTTAACAGTACAATAAAATGATCATTCATCATGACCAAGTTGGATTTATCCCTGGGATGTAAGAATGGCTCAACATATGCAAATCAATCAATGTCATACGTCATAGCAATGAAGGACAAAAACCATATGATCATTTCAATTGATGCTGAACAAGCACTTAACAAAATTCAACATTTATTCATGATAAAACCCTAAAAAAATTGGATCTAGAAGGAACATACCTTAGCACAATAAAAGCCATTTACAACAGACTCATAGCTAGTATAATACTGAATGAGGAAAAACTAAAAGCTTTTCCTTTAAGATCGAGAACATGACAAGGATGCCCACTTTCACCACTGTTATTTAATGTAGTACTGGAAGTCCTAGCTGGACCAACCAGACAAGAGCAAGAAATAAAGGAAATCCAAATTGGAAAGGAAGAAGTCAAATTATCTTTGTTTGCAGATGCTATGATCTTATATTTGGAAAAGCCTAGAGATTCCACAAGAGAACTATTAGAACTGATAGACAAATTCAGTAAATTTGAAGGATACAAAATCAACATACGAAAATCAGTAGCATTTCCATATGACAACAGTGAATCTGAAAAAGAAATCAGGAAATTAATCATATTTACAATAGCCAAAAACAAAATAAAATACCTAAAAATTAACCAAAGAAGTC)$ MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNS|aptakevlrgkfivistyitknfk* 11CO043 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 8 0 30 30 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1) AAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGT(CTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO043 ENSG00000158106.14 ENSG00000254859.1 +/+ -/+ chr8:143379078 chr8:143549603 CDS/splice-site intron deletion/read-through/5'-5' 12 4 0 34 22 high out-of-frame . BRO1-like_domain(100%),Hr1_repeat(100%)| . . ENSG00000158106.14 ENSG00000254859.1 ENST00000289013.11 . downstream upstream duplicates(3) ^(ACTCAGGAGCCCGCGGCCCAGGTGGTGCGGGCGGCCCTAGCCCGGCTGCGGAGCGCTGCGCGAGCGGCGGGCTGGCTGACCCCGAGGGACCCCCAGCGCAGCGGGTGCGGCGATGATCCTGGAGGAGAGGCCGGACGGCGCGGGCGCCGGCGAGGAGAGCCCGCGGCTGCAG___GGCTGTGACTCCCTGACGCAGATCCAGTGCGGCCAGCTGCAGAGCCGCAGGGCCCAGATTCACCAGCAGATTGACAAGGAGCTGCAGATGCGGACGGGCGCTGAGAACCTCTACAG___AGCCACCAGCAACAACCGGGTGAGAGAGACGGTCGCCCTGGAGCTGAGCTACGTCAACTCCAACCTGCAGCTGCTGAAGGAGGAGCTGGAGGAGCTCAGCGGTGGCGTGGACCCTGGCCGGCATGGGAG___CGAAGCTGTCACTGTCCCCATGATCCCCCTGGGCCTGAAGGAGACCAAGGAGCTGGACTGGTCTACACCGCTGAAG___GAGCTGATCTCAGTGCACTTTGGAGAGGACGGCGCCTCCTACGAGGCAGAAATCAGGGAGCTGGAGGCCCTGCGGCAG___GCCATGCGGACCCCCAGCCGGAATGAGT)CGGGCCTGGAGCTGCTCACAGCCTATTACAACCAGCTGTGCTTCCTGGATGCGCGCTTCCTCACCCCTGCCAGGAGCCTCGGGCTCTTCTTCCACTG___GTACGACTCGCTTACTGGGGTCCCGGCCCAGCAGCGTGCCCTGGCCTTCGAGAAGGGCAGCGTTCTCTTCAACATCGGTGCCCTCCACACGCAGATTGGGGCGCGCCAGGACCGCTCCTGCACCGAGGGTGCCCGCCGCGCTATGGAGGCCTTCCAGAGGGCCGCTG|TTACGCTGAAAGCTCTGGCACGTGTGAAACTGGCAAACGTGAAAACAACCCACCTTGGCGGGAAGCAGAGTCACCTAAACCGCCTGCTGTGCACACCGGTGTTCGGAAGGGCAGCGCACTGCACATCCTGGCCAGGCTGCTTCGTGGCCGTCTCTCCCACCGGGGTCTGCAGGTGCTGGCCGCCCA MILEERPDGAGAGEESPRLQGCDSLTQIQCGQLQSRRAQIHQQIDKELQMRTGAENLYRATSNNRVRETVALELSYVNSNLQLLKEELEELSGGVDPGRHGSEAVTVPMIPLGLKETKELDWSTPLKELISVHFGEDGASYEAEIRELEALRQAMRTPSRNESGLELLTAYYNQLCFLDARFLTPARSLGLFFHWYDSLTGVPAQQRALAFEKGSVLFNIGALHTQIGARQDRSCTEGARRAMEAFQRAA|vtlkalarvklanvktthlggkqshlnrllctpvfgraahctswpgcfvavsptgvcrcwpp 11CO043 ENSG00000165392.11 ENSG00000254054.3 +/+ +/+ chr8:31100955 chr8:17907556 CDS/splice-site exon/splice-site duplication 4 11 0 24 18 high out-of-frame . 3'-5'_exonuclease(100%),DEAD/DEAH_box_helicase(100%)| . . ENSG00000165392.11 ENSG00000254054.3 ENST00000298139.7 ENST00000519038.3 downstream upstream duplicates(1) ^(GTGTACTGTGTGCGCCGGGGAGGCGCCGGCTTGTACTCGGCAGCGCGGGAATAAAGTTTGCTGATTTGGTGTCTAGCCTGGATGCCTGGGTTGCAGGCCCTGCTTGTGGTGGCGCTCCACAGTCATCCGGCTGAAGAAGACCTGTTGGACTGGATCTTCTCGGG___TTTTCTTTCAGATATTGTTTTGTATTTACCCATGAAGACATTGTTTTTTGGACTCTGCAAATAGGACATTTCAAAGATGAGTGAAAAAAAATTGGAAACAACTGCACAGCAGCGGAAATGTCCTGAATGGATGAATGTGCAGAATAAAAGATGTGCTGTAGAAGAAAGAAAG___GCATGTGTTCGGAAGAGTGTTTTTGAAGATGACCTCCCCTTCTTAGAATTCACTGGATCCATTGTGTATAGTTACGATGCTAGTGATTGCTCTTTCCTGTCAGAAGATATTAG___CATGAGTCTATCAGATGGGGATGTGGTGGGATTTGACATGGAGTGGCCACCATTATACAATAGAGGGAAACTTGGCAAAGTTGCACTAATTCAGTTGTGTGTTTCTGAGAGCAAATGTTACTTGTTCCACGTTTCTTCCATGTCAG___TTTTTCCCCAGGGATTAAAAATGTTGCTTGAAAATAAAGCAGTTAAAAAGGCAGGTGTAGGAATTGAAGGAGATCAGTGGAAACTTCTACGTGACTTTGATATCAAATTGAAGAATTTTGTGGAGTTGACAGATGTTGCCAATAAAAAG___CTGAAATGCACAGAGACCTGGAGCCTTAACAGTCTGGTTAAACACCTCTTAGGTAAACAGCTCCTGAAAGACAAGTCTATCCGCTGTAGCAATTGGAGTAAATTTCCTCTCACTGAGGACCAGAAACTGTATGCAGCCACTGATGCTTAT___GCTGGTTTTATTATTTACCGAAATTTAGAGATTTTGGATGATACTGTGCAAAGGTTTGCTATAAATAAAG___AGGAAGAAATCCTACTTAGCGACATGAACAAACAGTTGACTTCAATCTCTGAGGAAGTGATGGATCTGGCTAAGCATCTTCCTCATGCTTTCAGTAAATTGGAAAACCCACGGAG___GGTTTCTATCTTACTAAAGGATATTTCAGAAAATCTATATTCACTGAGGAGGATGATAATTGGGTCTACTAACATTGAGACTGAACTGAGGCCCAGCAATAATTTAAACTTATTATCCTTTGAAGATTCAACTACTGGGGGAGTACAACAGAAACAAATTAGAGAACATGAAGTTTTAATTCACGTTGAAGATGAAACATGGGACCCAACACTTGATCATTTAGCTAAACATGATGGAGAAGATGTACTTGGAAATAAAGTGGAACGAAAAGAAGATGGATTTGAAGATGGAGTAGAAGACAACAAATTGAAAGAGAATATGGAAAGAGCTTGTTTGATGTCGTTAGATATTACAGAACATGAACTCCAAATTTTGGAACAGCAGTCTCAGGAAGAATATCTTAGTGATATTGCTTATAAATCTACTGAG___CATTTATCTCCCAATGATAATGAAAACGATACGTCCTATGTAATTGAGAGTGATGAAGATTTAGAAATGGAGATGCTTAAG___CATTTATCTCCCAATGATAATGAAAACGATACGTCCTATGTAATTGAGAGTGATGAAGATTTAGAAATGGAGATGCTTAAG___TCTTTAGAAAACCTCAATAGTGGCACGGTAGAACCAACTCATTCTAAATGCTTAAAAATGGAAAGAAATCTGGGTCTTCCTACTAAAGAAGAAGAAGAAGATGATGAAAATGAAGCTAATGAAGGGGAAGAAGATGATGATAAGG___ACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTCAAGATGTACTTTGGCCATTCCAGTTTTAAACC___AGTTCAGTGGAAAGTGATTCATTCAGTATTAGAAGAAAGAAGAGATAATGTTGCTGTCATGGCAACTG___GATATGGAAAGAGTTTGTGCTTCCAGTATCCACCTGTTTATGTAGGCAAGATTGGCCTTGTTATCTCTCCCCTTATTTCTCTGATGGAAGACCAAGTGCTACAGCTTAA___AATGTCCAACATCCCAGCTTGCTTCCTTGGATCAGCACAGTCAGAAAATGTTCTAACAGATATTAAATT___AGGTAAATACCGGATTGTATACGTAACTCCAGAATACTGTTCAGGTAACATGGGCCTGCTCCAGCAACTTGAGGCTGATATTG___)GTATCACGCTCATTGCTGTGGATGAGGCTCACTGTATTTCTGAGTGGGGGCATGATTTTAGGGATTCATTCAGGAAGTTGGGCTCCCTAAAGACAGCACTGCCAATG|ATAATCCTTAAAGTCCAACTAATTGGTTAACAGAACAGGACGTGAAAGCAGACAGCCCGTCAGACCACAGGCCTGTGCATCAAAGGAGCGGTCCACTCCAAGCACCATCAGCAGGGCAGCAGAGCTCTCTGCCTCTGGGAACGAGCGAGAGATAGAAGACTTTCCCCTTATCCTCAGAGGACTTCTCCTCTTTTACAAGCAACCTCCTGCTGTTCCCTTCTGGGGAATGGAGCAGGGGTCGCTTCCCTTCCCA(CAAGACCTTTGTTCAGGGACTCAAGTGGGAGGTTGAGCAATAAGCAAGCTTTCTTGCTTAGAGGCTCCGCACACTTCCTGTGGTTGTTTGTTCCACCCTGCAGTTAGGCAAGCAAGCTCACCGCCTGATTCTTATATTGTCGGACTAAGCAGAAGCTATTCTTATGATTCATGACTATATTAATAAAGCACTATTCTAAAGCA)$ MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDASDCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCVSESKCYLFHVSSMSVFPQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSLVKHLLGKQLLKDKSIRCSNWSKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAINKEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMIIGSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGEDVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEHELQILEQQSQEEYLSDIAYKSTEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLENLNSGTVEPTHSKCLKMERNLGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCLKMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLISLMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADIGITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPM|iilkvqlig* 11CO043 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 9 0 70 24 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO043 ENSG00000078674.17 ENSG00000254095.1 +/+ +/- chr8:17924780 chr8:31343857 5'UTR/splice-site intron inversion/3'-3' 3 4 0 20 8 high . . . . . ENSG00000078674.17 ENSG00000254095.1 ENST00000327578.9 . downstream downstream duplicates(1) ^(CTCCAGTCTAGCTCGCATTGCGGCTCCCGCCCGGGCGAGTTCTCGCCCCCGCGCGGCCGTTGCCGAGGAGACGGCGCATGTCCCGCCGCGCGTTGCCCCCTCTGCAGTACCCCCGCCCCTCTTCTCCCACCACAATGAGATCCTAAGATGGCGGTGGCTGCGGCGGTTGGCGCTGCGTAGCTGAGGTCGAAAAGGCGGCCACTGGGGCCGAGGCAGCCAGG)AAACGTGTGGGCCTCTCTGCTGCGGTCTCCGAGGGCCGACCGCTGCCGGCGGCGGGTCGTGGGGGCTGACTGTCGCTCTGCCTTTGACAGGAGAGGCTGCTTCTTGTAGAG___GAAACAGCTTTGAAGTGTGGAGCGGGAAAGGAGCAGTTTCTGAGCTGCAAAAACTAGTTTCTAAACAG|ATGAAGACTTTCGAGTACATACTGTCCTTGCCTTTCACTTACTTGCCATCCTGCCTGTGTCCATGAAGACGACAGTGCTCCACAAGACAGAGAGTCTCAGAAATTAGACATTTCTATCATTTAAAGAGAATGGAAGTGCTGTCTCCCCACCTGACCGGCTTCATAGTGGGGTTCTCCTTAAAGACAAACAAGAAGTTTACCAGTAG . 11CO043 ENSG00000104611.12 ENSG00000078674.17 +/+ +/+ chr8:19319728 chr8:17972329 CDS/splice-site CDS/splice-site duplication 3 2 0 38 35 high out-of-frame . |Pericentriolar_material_1_C_terminus(100%) . . ENSG00000104611.12 ENSG00000078674.17 ENST00000265807.8 ENST00000327578.9 downstream upstream . ^(GTATTTGCTCAGCCCGCCTGCGCCGCTTGGGACGCCTCTGCCTTTCCCTCCCTCCCTTCCCCGACGGCTTCTGGCGGCCAAGTGGATGTGGCGGGTGATCGAGCCACCCTGCCCAGGGGCGCCCAGCACTG___GTTCAGTGAACAGCATTTTGGACAGGACATTTGGTGCCAGGTCTGAGTAGCCAGTTTGCTGAATTATTGTCCCAGTCAGCCAGGATTGTGAGCTGTTTGGGAAGTTTCGTGGAAACGCCCAAGTGCCAGCACAGGTGGAGGGACACCTGGAGGCCAGTTTCAGGAACTTTTGCCACAAGTATAAAAGACTTCAGAAGTGCAAAGATGCT)GAAACAGATACTGTCGGAGATGTACATAGATCCTGATCTACTGGCAGAGCTCAGCGAAGAACAGAAACAGATCCTGTTCTTCAAGATGAGAGAGGAACAGATCCGACGATGGAAAGAAAGAGAAGCAGCTATGGAAAGAAAGGAGTCCCTGCCAGTGAAACCCAGACCAAAGAAAG|GAATAAAAAACTGCCTGAAGAGGAGGTGGAAAGCAGTAGGACACCATGGTTATATGAACAAGAAGGTGAAGTAGAGAAACCATTTATCAAGACTGGATTTTCAGTGTCTGTAGAAAAATCTACAAGTAG(TAACCGCAAAAATCAATTAGATACAAACGGAAGAAGACGCCAGTTTGATGAAGAATCACTGGAAAGCTTTAGCAGTATGCCTGATCCAGTAGATCCAACAACAGTGACTAAAACATTCAAGACAAGAAAAGCGTCTGCACAGGCCAGCCTGGCATCTAAAGATAAAACTCCCAAGTCAAAAAGTAAGAAGAGGAATTCTACTCAGCTGAAAAGCAGAGTTAAAAACATCA___AAACTGGGAGTGATTTTTCCATGTTTGAAGCTTTGCGAGATACTATTTATTCTGAAGTAGCTACATTAATTTCTCAAAATGAATCTCGTCCACATTTTCTTATTGAACTCTTCCATGAGCTGCAGCTACTAAACACAGACTACTTGAGACAGAGGGCTTTATATGCATTGCAG___GACATAGTATCCAGACATATTTCTGAGAGCCATGAAAAAGGAGAAAATGTAAAGTCAGTAAACTCTGGTACTTGGATAGCATCAAACTCAGAACTTACTCCTAGTGAGAGCCTTGCTACTACTGATGAT___GAAACTTTTGAGAAGAACTTTGAAAGAGAAACCCATAAAATAAGTGAGCAAAATGATGCTGATAATGCTAGTGTCCTGTCTGTATCATCAAATTTTGAGCCTTTTGCAACAGATGATCTAG___GTAACACCGTGATTCACTTAGATCAAGCATTAGCCAGAATGAGAGAATATGAGCGTATGAAGACTGAGGCTGAAAGTAACTCAAATATGAGATGCACCTGCAGGATTATTGAGGATGGAGATGGTGCTGGTGCAGGTACTACAGTTAATAATTTAGAAG___AAACTCCCGTTATTGAAAATCGTAGTTCACAACAACCTGTAAGTGAAGTTTCTACCATCCCATGTCCTAGAATTGATACTCAGCAGCTGGACCGGCAAATTAAAGCAATTATGAAAGAAGTCATTCCTTTTTTGAAG___GAGCACATGGATGAAGTATGCTCCTCGCAGCTTCTAACTTCAGTAAGGCGCATGGTTTTGACCCTTACCCAGCAAAATGATGAGAGCAAAGAGTTTGTAAAGTTCTTTCATAAACAACTTGGAAGTATATTACAG___GATTCACTGGCAAAATTTGCTGGCAGAAAACTGAAAGACTGTGGAGAAGATCTTCTTGTAGAGATATCTGAAGTGTTGTTCAATGAATTGGCTTTCTTTAAGCTTATGCAAGATTTGGATAATAATAGTATAACTGTTAAACAGAGATGCAAAAGGAAAATAGAAGCAACTGGAGTGATACAATCTTGTGCCAAAGAG___GCTAAAAGGATTCTTGAAGATCATGGCTCACCTGCTGGAGAGATTGATGATGAAGACAAA___GACAAGGATGAAACTGAAACAGTTAAGCAGACTCAAACATCTGAGGTGTATGATGGTCCCAAAAATGTAAGATCTGATATTTCTGATCAAGAGGAAGATGAAGAAAGTGAAGGATGTCCAGTGTCTATTA___ATTTGTCTAAAGCTGAAACTCAGGCTTTAACTAATTATGGAAGTGGAGAAGATGAAAATGAGGATGAAGAAATGGAAGAATTTGAAGAAGGCCCTGTGGATGTCCAGACTTCCCTCCAGGCTAACACTGAAGCTACTGAAGAAAATGAACATGATGAACAG___GAAGCAGAATCTGGTAATATAAGTCAAAAGTCTGATGAAGAAGATTTTGTAAAAGTTGAAGATTTACCACTGAAACTGACAATATATTCAGAG___GCAGATCTAAGAAAGAAAATGGTAGAAGAAGAACAGAAAAACCATTTATCTGGTGAAATATGTGAAATGCAGACCGAAGAATTAGCTGGAAATTCTGAGACACTAAAAGAACCTG___AAACGGTGGGAGCCCAGAGTATATGAGATGTCTTCAGAGGCTCATCTAACTCTGTCCTTACATACTCAATGCATATATGAAAACAATACTAAATAAACATCTGATCTGTATAAAAATGTAAATTAGTTTGACACTGCTTTTTTGATAGGTGTGGTCATTTCTCCCCATGGTAGTTTAAAACATCAGAAACTGAATTCTGGACAGATTTAAGCCTTGACACACTGTGTTTTTTTTTTTTTCCCCCTTCTTTTTTGGGTCTTCATTTTTTTCCCCATTGTGATGTTTGGTAACGAATTTAAAATGTAGTTTTAAATAAAGTTTGGACTTATCTATAAAGTATCTTTTTTGGAAATTATATTGAATTCTATACAGCAAGTCAATGTTTTATATAACTTTAGGCTGCTCAGAGAAGAGCAATGGTTAAGAGTTAGTTAGAGAAATATATTATTTGTTATAAAGCCCATCCATTAGGCCAGTCTTCCAACTAATGCCAGTGTTGCTGCTGTTGGGTCTGATGTTCTTCTTTTAGATACCTGCAGGTCCTATTCCTGTGCAAGAATAGGGCAGATTATCAAGATATCCAGGATACCTATGAAGTTATTATAGAATATTTATTAATCCATTGAAATTGGATAATAAGTTTAGAACATAGGTTCTCAGTATCTAGAACTTACATCATTATCATCTGTTTGTTAGGATTTGAAATTCTGGAAAATATTTATCTACATCGCCTCAGACTAAAAGTAAAAAAAATAAGCTTTATATAATTAGGGAGATTTCTGCACAGAGAAGTAACATTGTGGTTAATTTTAAATGAAAAACTTAACTTTTTCAAGTGGGGATAAATAATACAACTAAATTTCTGTAATAGTAAGATTCTGTATGCCTTCAGATAAACTTGCCTATTGAGATGGTAATTTAAAGCCAAAGCATAGCAGTTTCTTTTGTGTGTAGTGAGGTTGAAGCAGATTTGCAGGTGAAGTATTGAAAGTTTATGTGACTTTAAGTCAGCTTTTGAAAAGTGATTGATTTGCTTTTTATCCCAAACTGTCCATATACCCAGTAAGGCTTCAAAAAACCAGTCAACAATGAGTAAGTCAATCTTATAGATTCTTCTTCCTCGAATAAAATACAAAGAATTAGTTCCAATAAGTATTTTAACTTTGTTAACAACTGAAATACCCCATAAAAAAAGAACTTGTTGAGAGTATTTCTTTAAAATGGTTACTTGCTGCCCAGGCACCATGGCTCACTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATTGAGACCATCCTGCCCAACATGGGGGAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGAGAGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGAATAGCCTGAACCCGGGAGGTGGAGGTTGCAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAACTTGCTGTATACCTCAGTGTAATGTCCATTCAAGGAGTATTAAATGAGGATTTCCCTGCGAGGACATTTACTGTATTGCTACTTAAATTATGGAAGACAATATATCTTCAACTTTAATAAAACCTATTCAGAAAATTACCAATTCAGAATTCGGAGTTCTTATCCAGGTGCTCTAACTAACTTCAGGGAAATTGGAACAATAAGTTATGTTACATGCACACTCAAATTCTTTATTTTCTCCACTTTAAGCAGGAAAGGGTAAAAACTGTTTTGGTACTCAAGCCCAGCCTTACATACTGTGTTTCTCTCTCTGTCTGCATGCATATTAAAGTGGAAAAATTGTATTTATATCTTAGTTATTACCATAGTACCTATGAACCTTATCAAAATTGCTTATTTGACTGGTGTTACAGCTGCTATTAATCTAAGTCTATTGTTTTTCTATTTTAGTAGATAATTTAGTTTTAAAATACGTAGGGTTTGAGAGCAGATATATTTATTTAATCTGTTTTCTCTAGTAACTATTGCTGAAGGGTTAGGCATTCAGTATTCCTATTTGTCCTAATTTTGAAGTTAAAAATTTTGGTTACAGATAGATAGAGGGAGAAAAGTTCAAAATGAGTGAGAGAGAACTTTATGCAGGTTGAGATAATGCCTAAAATAATGAGCTGGCCAGACTGTGGAGGTACTCTTTGTATTTTGTAACATTGACTTTGGGTAAATGCTTTTTCACTGTTAATAAATATATATCCTGTAT)$ MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKK|giknclkrrwkavghhgymnkkvk* 11CO043 ENSG00000156011.17 ENSG00000206579.9 -/- +/+ chr8:19013563 chr8:55357678 CDS/splice-site CDS/splice-site inversion 1 2 0 5 2 high out-of-frame . . . . ENSG00000156011.17 ENSG00000206579.9 ENST00000327040.13 ENST00000327381.7 upstream upstream . ^(GGCAGTCCCGGGAGCTCAACAAAGAGCACGCGGCGCTGGCCGCCGGCA)CTCGCGCCCTGAGGCTGCGGCCCCGGAGCGCCCGGCGGCGGTTTCGGCGCGCGGCtGGGCTGGCGATGGAAGATGGAAGGAAGGAGCGCAGCG|ATATTTCCACACAATATACTTAGGTATTCGAAGCCGACAGAGTGGGGAGAATGACAGATGGAGGTTTTACTGGAAAATGGTATATGAGTATGCGGATGTGAGTATGCTGCATTTGCTAGCCACCTTTCTGGAAAGTGCTCCACAGCTGGTC(CTGCAGCTCTGCATTATCGTACAGACTCATAGCTTACAGGCCCTCCAAG___GTTTCACAGCGGCAGCTTCCCTCGTGTCCCTGGCCTGGGCCTTGGCCTCCTACCAGAAGGCCCTCCGGGACTCTCGAGATGACAAGAAGCCCATCAGCTACATGGCCGTCATCATCCAGTTCTGCTGGCACTTCTTCACCATCGCCGCCAGGGTCATCACGTTTGCCCTCTTTGCCTCGGTTTTCCAGCTGTACTTTGGGATCTTCATCGTCCTTCACTGGTGCATCATGACCTTCTGGATCGTCCACTGTGAGACAGAATTCTGTATCACCAAATGGGAAGAGATTGTGTTCGACATGGTGGTGGGGATTATCTATATCTTCAGTTGGTTCAATGTCAAGGAAGGCAGGACACGCTGCAGGCTATTCATTTACTATTTTGTGATCCTTTTGGAAAATACAGCCTTGAGTGCCCTCTGGTACCTCTACAAGGCTCCCCAGATTGCAGACGCATTTGCCATTCCAGCGCTGTGTGTGGTGTTCAGCAGCTTTTTAACTGGCGTTGTTTTTATGCTGATGTATTATGCCTTCTTTCATCCCAATGGACCCAGATTCGGGCAGTCACCAAGTTGTGCTTGTGAGGACCCAGCCGCTGCCTTCACTTTGCCCCCAGACGTGGCCACAAGCACCCTACGGTCCATCTCCAACAACCGCAGTGTTGTCAGCGACCGCGATCAGAAATTCGCAGAGCGGGATGGGTGTGTACCTGTCTTTCAAGTGAGGCCCACTGCCCCATCCACCCCATCATCTCGCCCACCACGGATTGAAGAATCAGTCATTAAAATTGACTTGTTCAGGAATAGGTACCCAGCATGGGAGAGACATGTTTTGGACCGAAGCCTCCGAAAGGCTATTTTAGCTTTTGAATGTTCCCCATCTCCTCCAAGGCTGCAGTACAAAGATGATGCCCTTATTCAGGAGCGGTTGGAGTACGAAACCACTTTATAAAGCAAAAGGAGTTGCAGGACCCACAACATCCAGATGAAGGGGTGACAGCAGGGCTGTGGCCATAATGACACTTCATCCTAGAGCAGGGCAGTGAGCCGTGAAGTTCCTAGTGGGACCGTCATCACCATTATCATTTGATCCTGTCGGCTGGGGGCGGCTGGTCTCCTTCCAAAGCAGCTGCACCCGAGAGTCTCTGACTCCACCTGAAAGAATGACGCTGGCTTAATAGGACTCTCCATTGCTACCAAACTCCTCCTGCACGGTCTTGGGTGCACCCACCAGAGGGTACTACTATTATGGAAAAATTTTGCCTCCAATCATTAGGGTGTCTTGATGGCGTTAACTGATCTTTCCATAAAAATAGATTCAGTCATACACACATACACACACTAACACACATAAGTTACACCAGTCCTCTGTCAAAAAAGCTTAGGTGACTTTTCTTGATGCAAAGCTCTGATTCCCACAGGAATATAAAAACAAAGAAAGAGGGAAACATCCCTCGAGAAAAAAAATAGTATTGCTTAGAAAAGAAACCATTTTCTCATTTGGAAATCCATACCATGTGTGAAAATCCTATCCAACGGACAGCAAACCCAAATGTTGTCTACACATGTGTTAGCATTGATGGAGTGGTTCATTTTCTACACATTTCAGGATTTGTTTTATATTTTAAATTTTCAGTTGCGAACATCCTTTTTGACAGAAATCCTATGCAGCCCATGTACGGCTTTCAACAAGACCAAGGAGCTCAATAACTTCATGATGTAAATTAAATAGTAATCATGATTCAGTATTCAATTGCAAAAATGTAACAGGTACACAAAGAGGAAGTGGGGAAAAAGGCAAAATGAGAGTCTGATTCCCAGGCATGTGCAGCGCCCATTGGGACATAACGGCAGTGCGGCGCGAGCCAGAGGAATGGGCTGGAACCGGATCTGTTTCCAGACGCAGAATGAGTGGCTCTGTGTGACCATAGGCAGATGCTGACTCTGGAAGACTCCGTGCCACTCCTTTCTAGTGCCAAACACCATCCAACCACAGGACTGACGTGGAAGCCCCAAACAACTGAGAATGAGTGGCATGAGCCCCCTAAAAGCAGGCGAGAGAACGAGCAATCAAGTTCTCCACTGTGTACAGACTTTTCCTCCCCCCAATCCAAGGTCAAAGTGATGTGTCTTTTAGAGGCTTTGGGACACTTTTTAGTAAGTATGAGCAGACAAATGCAATGAATATGCTATGAAAAAACCCTTCTGAACTGAGAGAGGGCTTATCACTATATCCAGCTAAGATTTGTATTTGAATCATCTGTAAAGTCGCACTCTTACAACAAGCTTCTGGGTTTTAAATACCTCCGTACAGCAAGTAAACGTTCCCCGCTTTCTGTTCTCAGTGTCCTCGGTCATGGTGCTTTTCGTTGCATTAAAAGTGCCGGTCAAACTTTGATAGTATTTTTTTATAGTTGGTGCAGAGTGGAATAACTCATGGATTATTTCAATATTTTTGTAATAAAAAATATAGGGTATACACATAGGCATCATCACATTTTTTATAGACCTGGAATCGTTTAAAATACTTTAAGCATCATAATTACTTGGGATGTCAGAAACTGGTCCACAAATTCCATCAGCCTGCCTCAGCAGATTGAAAACATTTGTCTCTTGCAAGATCACCCTACTTTGCAAGTTGGTGCCCCCAGGAACCTGGCCAGGGGTGCTATCAGAATATCAGGTGAAGAGAGAATCAGCTTAAATAGAAAGGGCTTGTCAAGACTGGCCAATGTTTCCCAGGAAATCAAAGATGTAAATGATTACTTTCATCCATCCATTATAACAAACCTGACCACAGTGGAAGCTGTCTTAAACTTCCTTCCCTGGTTTTATATTAACCCAACTGATAGATTAAGTATTAGTCAAACCACTAAAAAAGAAAAAGAAAAAAGTTTAACTTAATTATTCGGTTATTTGGATCTAATTCACACAAAGTAGTCCAGTTCTCTAGCCACCACCTGTAATGGGTGTGTCATCCAGAGACTGTGTCCCCACGATGACATCCACAGGAAGTAACAGAGGGCTCAACCTAGGACTTCTTTTGGTACAAAGCCCCAAATCAATTTTTTTAAAAAATAGACAATTTTTATAAGTAGACATACTTCCTAGTACTCCATGATTTGATCCTCCAAGCAAGATTTCCACTAAAAAATACTAATCTTTTGTTGGGATGTGGAAAGATTACCTAGTCACCAGTAAAGGCCCAGGAAAAGGCTCTTCTTGTCAGCACATGGTGAAAACATTCCATCCCCACTGGAGAAGGAAAAAACGATTTTGGCAAATTCTTCACTTTTGTGCAGAACCTTGAGTTATTAGCTTCATTGTTTCCAAGACAACTTTTAACTGATGATCTTTGGAAATTGAGTTTCTCAGTTGAACTGTACCTTTGATTCTATGAGTAAATCACAGATTACAGTCTAATAGAGTCAATCAATCAACACAAACCCAACAGGCCCCATCATGCTTCAATCATGTAAGTTCTAAGTTATTTCTCAACTTGATCCCTCATTCAACATGTTAAGAGTCAGAATGAATACTATGTCAATGAAAAATGATGTACTGTGCTTTGACTTGGAGGTGAGATTGGCAGTCAGGAGAATGTAAGGAGGTTGAATTTTTCAGTGATTTCCCAAATACTGTAAATACTCTGTTATCCGACATATTTGGAGATTATGATGTTTTAATTAGGCATGAATTCTTGTTAAGGAAAGAACATATCCATGATGTGATGAATTACAACCTTTCAAAAGATTACAAGAGCAAAACAAGAGATAAATCATGATTTAGCCTTGCTTCCATGATTCAGGAAGCACTACACTGCCATCAGACTGTTGTGGTAATAACAACTTTTACTTGTTTTCTAGATGCACAGATAACAGAGAGTTTAAAGTATTCAGATTTAAAGAGACATCATCAGTGTACAAAGAAACAAAGTTTCATTTTTGTATTTATATTTTAATTCTAACATTTCCTTTTCAATCTGCCATTAAACCCTCCGCAGACAGTAACTGGAGAATCCCAAAGGAAAAAATTGGAAATGCTGGGTTCCTTATCTGCAGGCTCCTTTCTGTGTCTGAGTCCACTTTGATTCCATTTAAGAGGGAGATCTGCTCTTACTCACTTTTTGCATAGGATCAGGAAATTTTCTAAAGGAACAACATTGTAATTTGTTTTACTTTTAAACTTGCATTTCTAAATATGAAACCATGTTTAATGAATATATATAATGTGTGTGTGTGTATCTTAACCATAGTGACACTTTAAGTGTTTGTGTGAAAGAAAAGGAAATAATTTTTCCATGTAAGTCAAAGTTTAGTCTCCCAAAATGACTATGTCCTTTAAATCCTCTTTGCTTATTTACTTAACTACATACTGTCTAGTTCAATAGCACTGACTTTGCAGACACTTAGTTACTACTCATTTGTGATAAACGCTGTTAACCCAACAAATATAATAAATTCTCTTACTGACATGGCAAGAATATATAATTCAAGTATTAGCAAAAGATAATCTGAGGATAAAAGTAAAATGAAGTATTTTATGGTTAATTTCTAAATGCCCAATTTATTTTGCTCTATGAGTAAAGGAAGTGATTGCACAGAACAATTAAAAGTGAATGAGAATAGTTGAAAACTCAATGGCTGTTTTTTAAAAATGATATGTGCCTTTTAAGTGTGTTTGTGTACATACATATATGTATATATACGTACCTATATATGTATGTACACACACACACACACACACTTTCCAACTAAAGTAACAGAGATGAAAAGGATAAAGTATATACTGCTTTTGAATGTATATAAAGTGGTATGTTATGCATATAAATTGTACATAAACTTTTTAGAAAAGAAGCATTTTCCTGCTCCTTTTTCAAAACCAACCCAAGCTTACAGTCCATCTATAAGACCAACACACTTACGAACTTCAGTTGGAAATACCTAAATATAATTCAGCACTTCTTAGCTCGAATGAGTTTTATCACTTCTTAAGGATCTCATCTTTTAAACAGCTGAATAAAATAGTTCTGTGTCACTTCAAAGTTTCTTTCTCTGAACAGATTGAATTGAGCAAAGAGAACCTCTTCTGTCCTTACCAGGATTGTGTAAGGTTACACATTTGCTTTTAAATATACCAAATGCCGTTGATTGGAAACAAGTTCTGACACAATGTTTAGACAAGAATCCAGAGATTTTTTCTAATGAACCATTTTCTAGACTAAATATATGCTCCCTTGCATTTTCCACATATCTTTGCCATTAGCCATTGCTGTTTCTATATAAAGCTTGGATGAGATGCCTGCATTTTTATGTGCTAAGGAGAATTCCTTAAAGCCTTTTTAAAAATAGCTCATACTGTCATTCAGATTATAGCTCAGAGGATGGTTGAAGCGCATGGTGAAAACACAGGAGGACTGGGGTGGTCATTCCTATAATTTCAGTGACAGATGCAGATCAACGTTCCTTTGTCTCGGCAATCCAATGTCATTTTTGAAAACAATCAAAAAGATCGCTTGTGTCAGCTTCTGACTCATAACACTCCTCCCACCTGATGCTCCAGTGTTTCAAAATGGCCAAGGATGGGCGATTCCGCTCTATCCCCCATTTCTGAGACTCTTGTCTGGACCTGTAACAGGCCGTGAAATGCCCTGAGCATTCGAGTGGCATCCCTTCTCCTCACATAGGCACCTGGGTGGCAGCATCAGACCACTGAAGTTGTTGTGTTGACATATGTCTTATCTAGTTGCTGTCCTAAAAATGGGCATGTGGCAAGACTCTCAATCTACAGCCTCGACAGTATCATTACTCATTCTAAAGTAAAACTGCAGAATATGGGTGGAATTGTATAAAAACATAATGAGCCATTTAATTTTGCTAATTGAAGCAATTAGTCTAACATGCAAGCAGCCTGCTCTCACAGCAGAGAGCCACATGGAAGAAGTGCCAAATAGCCATTTGCATTTATATATATATATTGCAGGCAGTGACCTGGCCCCCAAATGTAAAGCTTTTGTCAACCTTGAGGCCTATATTCTGCTAAACAAGAGATGACTTAATGTCCTTGAAATATTTTCGTAATATACTGACAGCCTAATGTCAGAAACGAGCTGCCTAAATCAAGTTTTGCTTTTGGTTATTTCACTTCCCCATAGACTTTCTTATGGTTCCATCTCCCACATTGAGAGTAGCTCACCACGATGGATGGTTTACTGCGCACCTAGTGCTGGACTAAGAGCTGTATCTATGTGGTTTCATTTAGTCCTCACTGCCATCTGTGAGTTAAGCATCATTTACAGATGACAAAATCTGTAAATGGCTTAGAGATGTCAAGCAATTTGCCCAAAGGTCCCACAGCTAGGAAACAGTGGGGCTGAGGGTTGAGCACAGCTTTCAACAACTGCGACTTCTGGGAGCCCAGTGACTCTTCCCACAAAATCTAGTCCTGATTTGGCAAGTCTTCAGAAGAAACAGAATCATGGTCTGATGATCAAATTTTTCCAAGAAAATTTTATTTAAAAGTCAAAGATGTCCTTCAAAATGAACAGTTAAAAATGTAAAAGTCGATGTAAAATGGAAGTCTCTATCACCTGTAACTAAATTTTACCTTAACTCTAACTCATAGTAGGCAGATAAATGCTATTCTTCCATTCCAGGCAACTGTCCCCCTCCTATGGCTCCACTATGTATTCAATTAAGTGATAAATATAAATTAACCTGATGCCATGTCTCTTGTATTTTATATGTGTATGCTGTTTTCATCCAATTAAGCAGACTGAAAAAAAACTAAACCCCATTACTTACTTTGGCATTTTGACAAGATAGAGAGAGAGGAAAAGAAAGAGGGAGGGAGAGAGGGAGGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGATTTAACAAGTCTTTGAAGTGATATTTTCAAATTATAAGGTAATTCTGTTTCACTGCCATAATTTTTCCCTAAATTTTATTTAATATCTTGCAGGTCACAAACTTTAATATTTAAGAGGATTATTAAACCACTAGCTTGAACAATCATATAAGTCTAGGAACCTTATTTTAGTGTTAGATGCCAATAATACTGCAAGTGTCAACCAAATATTTGTTGAATTGAATTATAAAATAATTGATGTGTTCTTTCCCTTCTCACTTTAGATATAGCATGTCTGAAGGTCTGCAAGATGACAGAGTTGTAACCCATTCAATGATATTGTTGCCTAGTAAGCTGTGTGTGTGTTGTTTGAACTGATACTAAAAAGGTAGCTGATAATAAACCAAAAATTTTCTCAACCCTGGTGTTTATTTTTAAAAAATCTTCAATGATCAATATGAATGTAGTGTATTAAAATACAAGTAACTATCTTCCTACTTTGATTTAAGAGATCTTTATGAATTTATATAAAATTAGAAGTCACTGATTTTTATAGGAAATAGCATGTAAAATAAATCTAAGTATTGCTTTATCACTTTATTTTATAGATGAGACAACTGAGATCCAAAAAGAACAGGTAATTTTTGTGATCAGGATTACACAATACACTTTTTTTTTTCCCTGAGTCATTTATTCAACAAGTTTGACCTCTACAACTCATTTGGCTAGGCAATGCACAGTCAAGCACAAAAGGAAAGTTGCACTGGAATAGCTCATAGTCTGGCTATTAGCAGCACAATCATAGTTTTCTGACGCCAGCTCTTACTCTTTTCTACTCTACCACACTGTTTCTTCTCTTCTCAATATCTATATTTAATTCCATATTGAAGCAAGAAAGAAACACAGCTTTTCTAAGACTATGCAGTCATGTGTCACTTAAGGATGGGGATATGTTCTGAGATATGCATCGTCAGGCAATTTTGTCATTGTGTGATGGAGTGTGCTTACACAAGCTTAGATGGTAGAGCCTACCATGCTCCTAGGCTATATGGTAGAGCCTATTGTCCCTAGGCTACAAACCTGTACAGCATGCTACTGTACCGAATACTGTAGGCAACTGTAACACCATGGTAAGTACTTGTGTATTTAAATATAGAAAAGTTAACAGTAAAAAATATAGTATTATTGTCTTATGGGATCGCTGTCATATGTGCAGTCTATTATTGACCAAAATGCCATTGTGTGGCATGTGAGCCTTACAATATACAATTAACATATGAAATAATGATGATGAACATAAAGTAACAATACAAATACAAAAAAAAAACTAGATGACTGCTTATAAAGAGAAAAGTAATTTTATAATTTGTTTATATGACTCTCCAACACTAGATATTTTTAAATTGATATCACAACACACAAAAAAATTGAAATACTCTCTTGGTGCATAGTATTTGATTGAAAACAATCATTTTTGGATAAACTTTGAAGCGATTCTTGAGAACTTATTTCAAGAAAAGGCATGAAATTAGGGAGACTCCAAAGTGAAGAGTTTTCCAATAGGTGACTTCTCTGATTTTTCAAGAAAGCATTCTTCACTAACTGTATTTCTCCAGCATACTGGTTATTTAGGAATAACAAATTTCTGGACATAAACATGAGCTGTTTCTCTAAAGCCTTTCCTCCAATGCCCAGAAGAGCAGCACTGTGCTGCGTGACAATTTCAGGAGTCAGGAGTCAGGAGTCAGGACAGTCAGCCCCAGCTTCCTGGGGAAACCCACACTGGCTTTGGACCCGATTGCATTCTCTCCTGAGTGATTGGCTTCCCACATATATAAGCAGCAGATTGTTAAAGATCACTATTAACTTGTATAACTAATTTTCCTTATGTGAAATAATTCTGGTCAGGGAATATATAAACCCATTGGCCCTCTAAGGAGTAGAAGAAAAGAGAGAAGAAAGTATATTAACTTTTATGAGTACAGAATAATTCAAGTTCCTTAGCGAGTCACATTATGCATTAATAAAAGAGTTGACCTAATAAATGTTACAAGGTACCATGATCTCTAGGTTCATGCCACCATTACCACATTCCTTACTACAATTATTGCTATTTTAGTCATTGGACCAGACAAAATGAAGCATATAATTACTGATATAATATTTGCTAAGCAAAAATCTTGTTTAACGAAAAAAATCAATACCAAAACTAATTAATCAAAATATTAAGCAAATATTACCAGCACAGTACTGACACAAAATTTTCTCTTGTGCTAGTAATTGAAGTATGTCATCTACCCTGTTATTAGAATTTCAGAAAATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCCATCTCTACTAAAACTACAAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATTTCAGAAAATATAAAGTTTTATGTTTTTATTATATTTCCATCTACCAAATTGTTGACCTTCTCCTCCTCTCCATTGCTTAATTTATATTAAAACAGATTTAATCAAATTATTACTTAAGTACTACAAATGTTATCAGATGGAGATGTGGTTAAGCTAATTTAATTTACCTATTCTAGTGGCATTCTGGTATGGAGCTGTATCAAATCAACACTTTTAATTATTTCACATTAATTCATCAAGAAGTTCCAAAACACTACTAAATGTGTTGAAAATATAGTTTGAGTTTCTATGATTGTAATCAAAATTCCTATTTTGATCGCACACCAGTAGAACGCATCTTAACACCAGCATTGCCATTGTGAGTCTAGAAAATGAGCACTTTGTGTGTTGAGCGCTGTTGCATTCACTTAGCAATTAACCTTTGACCTGTGGTTTTCTGCTGAGCCCCTTGTGATTTTTTTTATTCTATTCAAATTGGGAGCAATAACACACCTTAACATAACCAAAAAAAGGAGACCTGTCAGCTAGTGAAAGAATTGTCATTTTATATCATTCTTTCAAAAAATTAAAATATTCAACTTCCCTTATTAACCTTTCTAATGCATTGTACATAAAAGAGGAAATGGATTTCTGAAATATATTTTGAAAGCCTGGGGTGAAACATTTTCCACGGTCTGAATCGGAAGCTTGGGGCTCTGTGGAAAGATGTAAATCCCTCCTGCTGTAAGAGGAGGGAAGGCAGCAGTGAGCTGTCACTCAGAAATACAGTCACCACTGTCACAAAGCTGCCTATTGCTGATGCTATCGATTCCCTTCTTTTTCTACAGAAACATCTTGGAGCTTGTCAAGCTTTACTGGAGGTGATTTGCAGTTAATTAATTCAACAGACACTTTAATCTTGCAAATTCTTGACTTGTAATATTGTAACCAAGCTCCTGCAAGGGAACATTAATCAGTTAGTGAAAAAGGAGCACTTCCGTTCAGCCGTAGTACCATGACGTGCACAGGCCTGAAGAGAAATACCTCTGTGAAGTGGAGCGCTAGTGAATTCCTGCTACCTGCTTCTTATGGCTCACGCTATGAATATTCACCTGCTTCATTTGTTTTTTCCAGTAAACGCTGTTTTGAAAAAAAAGAAAAATATTCCCGGGGGCTTGCATAGCTCAGAGAACGGAGTACTGGGTCGTGGAGACTTGCTTTAAATGGATTCAAATCCACATGTTTGGAAATGAAAATAATGCACTGTCATCTGTTGAATAATTGATCTGTCTGAGTACAGTTGCTGCTTTTATTTCATTTCTTGAGACTACCATTGTCAGCATTGTAATAACCAATTTATAAAAATTGAGTTTTTATTCAGTTTCAGAGGTAAAATCTGCATGGGTGCAGCTACTGAATAATTTGATTCCTGCCTTCTTAGGTGGTGACATTAGCAGTTCCAAACCGAGATCCATTTCTATGTGGAATTGGCTATCCTGTTGCTTCTCAGGCCCTGCAAAACCTTGGTTACGAGCTCAAAGATCACGAATCTGATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCAGGGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATCCTTCTGCCTCAGCCTTCTGAGTAGGTGGGACTACAGGCGCCTGTCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCCCGATATTCTTAATGACTAAATTTTCACATAGAGGTAAACAGATCATCTCTTAATTTAATACATGGTTCTTTCTCCCTTGCTTCTGGGTTTTGTTTTTTTTTTTTCAAAGAAAGATTTGAGCTACGAGATAAGAATGAAGTTACCAGAAGTTATCAGGTCATAGTTTCAGAGTATGCAAGAGAGTCGGGCCTTCATATGTTCTTGTAAAGTTTTCTGTCTAATCTTTTGGTATAACAATTTTAGGAGTTCACCCTAGATGAAAGAGTGGAAGTCATCAGATTTGTCAATAAGCAGTCTAGAGGAAAAATGAGAAGAGGAAGAAGCAGGGATTCTTTTTCTTGTGTTTTGAAGATGTTTCTCCTCCCAAAGCTATCACCTTGGTAGTTATCACCAAGATGTATAATAGCAAGCACTACTGAATGATCTTCCCAGTTATCAGCACTAGCATCACGGCGAGTCAGTTTTCAGAACTAGCTCTTGGCGCAAGCCCTGAAATAAAATGGGGACAAAAAGTGGTCTACCACCATGTGACTTATTTTCTTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCTATTAACTCGTCATTTAGCATCAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACACTCCCCGGTGTGTGATGTTCCCCTTCCTGTGCACGTGACTTATTTTCAATTGCCCAGCAATGAAAACTAACAAGTTAAAGAAAATGTTCATTTTCTGAACCCCAGAGCCCACATAGGTACAAAGATACTCTGTAATGTACAATGAGGTGGCCAATCGTGGGAATATAGGAGCAATAAATAGTCCTCTTAAGCAAGGTTCATGGGTAAGAGTTACTCTAGCAGGATTGGGTGTTGGGTCAGAGGGTATCTATTAATGTAGAGGCCCAAGTATGGTGATGAAGAGAAAACCTGTCAGTGGCTCATCCATAGTATTTGCCTTTTCACAGAGCAGAGAAGTTCAAAATAGTCACAGCCAGTCCATAACTATAACAACAGACATGTCCACTTTGGAAAGGCTAGGGCCTGACGAAAGTGGGAAAACAGAGATGTCAGTGGTGTCATGTCTAAGAGTGACTCTGTCATTAGGGGAACCCACCCCCTGTGATAGTTCTCCTTGACCACTGGTCCCTATGGGCTCTGCAGGAGAGCTTCTCGTGGGTTCTAAGATAAGGTATTCCAAGGTATTGTAAGTTACCCTTGTTTGTAGAACATGAACCACTTAACCATCCCTCCTTTTAACAGCAATGAGATTCAGGGTTACCATGGCCTTACTCATCTTCCCATTGTAAATATATCACAATGTCACAAGAGCCTCTGTGTCCAAACACACTAAACTGGGTTTACAAGCATTAGAATCTTTCACTCATATTGTGAATCTCAATTCTGCCAGTCACCTAGTCTGTGTATCTGTTCCCAAACTGGAAAAAATAATTCTTGAGAGAATAATTTTCAGAATAATGGAGGTGGAAAGAAATGAACAGTTAAGCAATTTTTCAACATAGACAAAACCACTGGACCATTGATAGCCCTCAAGCTCTGATTCTTCCTCCTGACTAAGTTTCTTTTCTTTGGGGGGCTTTCAACATCTGAATTTTCCAGATGATTGCGGAACCATCGTCACTAAACCAAAGTAGACAAGGAGTTATTAAAAAATAAAGACTGTCCACATGACTGCAAATATCCTGATGAAAAGTGGCCAAGTAGATCACTCAAGTGGTAAATTTGGTCTTCATGATATCAAACATACGGATATTTGGAAAAGTCGAGATGTTTGAATCATACAGTTTTCCGTCTGGGTGTCTGGTGTTTCTGGATAGACAGACTGCTCCGGTGTTGTAAGTAATGGAATTGAACTTTCTTGCGCCGTAAGCAATTGCTGGTCATATTCTGCTGCTAAAAGTCTCTTTGTTGTGCCAAGAGAAATAATGCAGAACAAATGTTATTTAATTTTTATTTACTTTCAGCAAACACATGAATGAAAGAGGTCAGGTAGGCTGTCCTGGGCATTCTGGGCCTGGCTGCGGCACACCCTCCTTCACTTGGCCCCTGCCAGGCAAGAAACTTTCTATTCAGTCTTTGCTATCTTTCATAAATTGTATCATTGCTCTTCTGCTGTTCATATCATCTTAGTTATTCACAAAGTCTACTTGATAAAATGGCTCAAGGGAAATACAAGTTTCTTAAGTTTTTATTCTTCAAATAGAAGTTTTAATTTTAAGCATTCCTTATGATATTTTTTAAGCCTAAAAACCATTCAAATTGCTTGACAAAATTATTTCATGGTGAATTTTATAAGGTTGATAGAAGTAAAAGCTATTTTTCCCAAAACAAACAAAATACCATACATAGTTTTTTGGGTTTGGTTTGTTGATGTCATGCCAATTTCCAAGCACCAACTGGTTACCACAAACATGGGAATATTTAGTGATATCTTTGTAGTCATCGTTAAAATTCCTGGGAAAAAAAGAAAAAGTTTACGTCAAAGGAAAATTCACCTCCCACAAGGAAAGTCTGAGATGTTCATCCTGACATTTGCGTTCCTGATTATTTGTGGACATTTCTTCATTGTGACTGTAGGAAGCTGAGCTTGTTTCTCCTAATTTGACACTGGGTTGGTGAGCATTGTCTCAAATTTTGTGCTTGCCTCATTTATGGTCCTGAAGCTTAGCAGAAAAACAGACAAGCTATTCAGACCAGTTTTCTTTAAGAGCACTTATGTTGCAGAACATGATACAAATGATTCACCGTGAGCAGGCACACAGAGTACGGAAAGGTATTCAACTATGCAAAGATATTGAGGGGATTTCCAGAGAAAACTTAAATGTTTTGAAGATTTGTAGGTAGGGTTTTGATTGTGTCACATTCTACACTCAGTGCCAAGTTAGAATGTCTTTATGGGGAAGGCAATAAAGTTACTTGTTGGGTCCTTCCTTCCCTTACAAACAGAATGTTTTTATGAAATCAAATGGATCCTCCACTTTGTGTAGTAAGGACCCCCCAGGCCCCACAACATCATCACTGTGAGTCCTATCGCAGATGTGTGTACCAGCCCAATTCAGTTTTGCTTTTCTTTTTCCCTAAGATTTTTACTTCACCAAATCCCATTTCAAATCTTTTTACCTTCATGTTACCAACAGGATGTTTAGTTGAATCAGCAACAAAGACGTGACAACCTATTGTCCTCCACAAAAGCATGAGTCATTTTATTCAGTGATCTTTGGTAGTACGATAATCAATGGAATTTATGGTGTCGTAGAAAACCAAAAATCCATGTTGAATATAGTGACTGTCTTAAATATACTTAAATATGTTATTCTACAAAACAATATCCTTTTACACTATGGGATGGATTCCTTTCTGGATGCAGGGATGGGAGGGTCTATGGGTCAGTGACTGGGACAAAGGAACTGGGAATCTCTGCACAACTGAGCCCTAATCCCTGGTCCATCTCTCCAGCCTCAGAAACTCACCCTCAGCCTCATTTTCCCCATATGCAAAAGAGAGATATTTATTTACCTACCTCATAGGGGTGTTGTGGAGATTAGCTAGATTTGCTAAAGTGCTTGTAGGTTAGAAAGTGCTGTCATTCCTGAGAACTGGCATTAACAGAAGAGAGCTGTGTGCAGCACGGAGGAAGTGGAGTCTGAGGAATACAACAGCAACAACTCACCAAGCAGAGAATACAATGGTTCTTCATCACTATATAAAACTAACACTTTTCCTTCAAAGGTCTATGTATAATTTTCTTCAATGATTAGCTTTTTAATGAGACAACTCCTTTCATCCAGACATTCAGATGCTTTATATAAGTTGGCAATTTTCCTGTTAACCAAACTGAATTTTATTAAATGTTTATTAAAATGCACCCAGAAAACTTGTCTCCTCCTGATGCCTGAGGGGTTTGCATGCCTGATCCCAAGCTGCATTTTTTCAGAATGCGTGCATGATGCCCCAGTTCTGTACTCATGATCACCAGGTGGCGTTCTGAAATCCACTACTGGGGAAAGATTTTTAACAGATATTAGTGAGATTAGAGTTGGTGTCATTTCCATTGAGTATCCTCTTCACCCCTAAGATGACACATCTTTACAACACAATAAAAGAACGTAAAGCCTTATTTCCACCTGTAACTCCTGAATTGATTCATTTTCACGTTATAACTACATTTCAAATATTTCGGAGAAGTTTTTACACAGGGCTTCAGCTATATACTGATATACATATGCTTACATGTGCTTAGGTGGGAATTCTACTAAAGGATAAAGGACACAGTGTGAAAACAACATCAGAGAATATCCTGTACAACTTCCCCAAAAGTGACAAGTTTTCTTGTACTTAAAAATTTAATCCTGATAAGAACTAATGTGAAATAACATCATTTTGGTTTATAAATATTTGTAATTTTTGAGACATAGAGGCAATATCATGATATAGGAATACATTCATAAAACTAGACTAGCAAAGCAGATAATGTTTTCATGATATGGCTTCATGAGGCAAAGTTGTTGTACATCAATATTATCATTGTGCCCTTATTTAAGGATTATATTCCATTGTGAAAAAAATGTGCACACTCTTAAAAACACAAAATGGGTTTCAGAAAGTTTACCTTGAGAAGTGGGTTTGAAATCATCTTGTGCTTGGAGCTGACATAAGATACGCACTCAATATAATCTCTTCTGGATTCTAAAATCTAATTGGCAGTGATATTTCAAAGCCTTAACATTTCAAGGTGGTTAATTAATATCTAATGCATGGTATTAAACTTTCTGAAGCATGAATTTAACCTAGGCAATTATCTGATTCATTTTTTTTAAAGTTTGTGCTGCCAAACCAGACTGAAGTATTGTTTTTCTGGACTAATACTATGAGAATAGTAAGTGAGTCAAAAAATAATTGGGACTGTCCTTTTTCCCCTGCCCACTTCCTAGTATCAATACTCCCCCAACCAGAAATGCAGCAGAATATCCTTTTTGCTATAAAGGAAAATACTGTGTTTTTATTTGTTTTTGCAGAAGAAAACTGGTGTTGCCTATTTGGACTAGATGTAGGGGCCTGGAAGAAGGAAGTGGCAGATTCACAGGTGGGGTGACCAGGATGGGAGGAAAATAGTGGGGCGAGTATGTCATGGGGAGATTTTGCCACAAAGATACAAAACAGAATTGAAGTGTGTTAGAGCTGGACAACCCTTTGAAATGACAGAGTCTAGATTCTTCACCAAACAGATGAAAAGACAAGTAGAGACAACATGTACTTGAGATATAAGCTATACATCTCATCACTGGAAGAAAGGAGACTTCAGCCTCTTTTCAAGGCTTTCCAGACCACATGGAACTCTCCAGAGCCCTCCTTGAAAGTTTTTAGAAAAACTACCATTTTCAGCAAAGATTCATGTGATTATGCTGCTGAGGACCAGTCATTCTGTAAACATCACATATGTGATGCTTTGTAAATGTATTAATTGTGGTCAATTTTCATGGATATTTCCCATTAACATTGTATTCCATGAACAAGTGATAGAAAACATATGGAAATTCTCTTTTGATCAAAAGGAGTGTCTCCCAATTAGTTTACGTGTGTTAGTATTGCTGACATATTATTATCATCACAAAATTCCTTTTATATCTAGATGGTATCAAATAAGAAAAAAATGCATCATTTGGTCAATTGCTTATTGAAGATCCCAGCTGAAGCCTTTCTTTGGTAAAGAGCGCAGAAAGAGACCATAGCTATTCTTGGATGAGAACCTTGCCTCTACTAAATAGTTTCTGCTTTTCCTCTCTGTAGCCAGACAGCTCAATAGCCTAGGGAGAGTCGATGAAGGATATGCAAATTACATTTTTCCCATTCTCAGAACAAAGACAGCAACCAATGAGCCAGAGGTTTCTTCTCTCTTTGAAACCAAATAGCACGCTGAATTTAGGGCTATGACAAAAATGTTGTTAAAGCAAGAGCAAAATCATCCTTCCTATGGATTCTTTTCTCAGTGTTTACTTAATTCTTTTTGCAGTTTGGATTGGAGTTTCTAGTAATGATAATTAATGCCATTTTACATGATAGCTTCAATGCAGAAATGGTGTGAGCCTGAGTTACAAATGACATGACTAGGGATACAAACTTCGTCTGTACTAACATCCTACCAAGCAGATTGGAAACAAATACTACTACCACTAATATTCTGATGTAATTAATAACATCTAATAGAAAAATAGAAACATCGTGCTTAGCATGAAACCATTGCACAATATAAACCTGCTCCCAAATGGCAAGGATTTTTGCTACCAATATTTGTTCTTAATTCTCCAGTTATTTTAAGTAAATAAGTTTCACATCTAACTACCTCAGCTACTGTTGTTTTATTTAGAAACATGAAACCATGCACTTTGTAATCAATAAGTCTTTTGTTTAACATTTCAAAAGGATATTTGGTGCAAAGCAATTTTCAAAAATTTGTACATGATATACACCACCCAACCTCAGGAGGTTGTACTTAATTTTGTTTGTTTGTTTCTAAGGTTGGTTTTGGGTAAAATCCTCATTTCCACTCAACATCAAGATAAGCTGCTCTATATTTGCTTAATTTGCCTTAAACATTTTGTGCTCCTTTCCCTGTTCAATTTTTTTGTTTTGTTTTAAATCTATCTCTGAAAAAAAAATGGAACAGGTGGCAGGTGAACAGCAAATGGAAGAGAATGGACCAGTAATTTCTCAGTCCCCTGTTGTCAACTATCTGCATGACATTCTGATTGTGCAAAAATGCCATTCCTGTGCTTCCCCCTCCATTACAGAATAAGGTCCGAGAGACCCCACGAGTGTGCGTAGGGAACGGTGTAGACATTTCCCCCAGTATGAGCACAGTGCCTGGACCTGAATGATCATCTTGGCAGTTCTTGTGCTTTTACTTTGTAAACATTGTACAAATGTATTTGGAATTTTATTTGAAATGGAGACTTAAACTAGTTATTAAATTTGTTTCCTTCCTGTAAATATATATATTCAAATTCCATGTATCCAAACATCCCTTTAGCGTTCAGATTGTAAGTGTGTCTTTATTCGCGGGAGGCCACTGTCAGCAGGCAGTGACCCCCAGTGCCCTAGTTTGAAGCACAGTGTGTGGAGTATTTGATGTACTACAGTACCATAGTTATTTTGGTCTGTTAAGTAAGTTGCAATTTGTGATGAAATGAAGTGGAAAGTAGTACTTCATAATGAACAAATTTCCTTGGTTACATGGTTTTTCTTGTAAAACTTAAAGAAAAAAAAAGAAAACTTGAAATTTTA)$ MEGRSAA|ifphnilryskptewge* 11CO043 ENSG00000156011.17 ENSG00000078674.17 -/+ +/+ chr8:18912755 chr8:17972329 intron CDS/splice-site duplication/3'-3' 0 2 1 5 35 high . . |Pericentriolar_material_1_C_terminus(100%) . . ENSG00000156011.17 ENSG00000078674.17 . ENST00000327578.9 downstream upstream . AGGATTCTCCTAAAAGAAATGAAGACACTCACTCACCACACCTAGTTCCACAACCTGACCAGGGCTGCTTCAGTCCCGACCAGAACCCTCCTCCTCTTTGGCAACCTGATGTTGAAGTTCAGAGAAAGCAGTGAACAGTGACAG|GAATAAAAAACTGCCTGAAGAGGAGGTGGAAAGCAGTAGGACACCATGGTTATATGAACAAGAAGGTGAAGTAGAGAAACCATTTATCAAGACTGGATTTTCAGTGTCTGTAGAAAAATCTACAAGTAGTAACCGCAAAAATCAATTAGATACAAACGGAAGAAGACGCCAGTTTGATGAAGAATCACTGGAAAGCTTTAGCAGTATGCCTGATCCAGTAGATCCAACAACAGTGACTAAAACATTCAAG(ACAAGAAAAGCGTCTGCACAGGCCAGCCTGGCATCTAAAGATAAAACTCCCAAGTCAAAAAGTAAGAAGAGGAATTCTACTCAGCTGAAAAGCAGAGTTAAAAACATCA___AAACTGGGAGTGATTTTTCCATGTTTGAAGCTTTGCGAGATACTATTTATTCTGAAGTAGCTACATTAATTTCTCAAAATGAATCTCGTCCACATTTTCTTATTGAACTCTTCCATGAGCTGCAGCTACTAAACACAGACTACTTGAGACAGAGGGCTTTATATGCATTGCAG___GACATAGTATCCAGACATATTTCTGAGAGCCATGAAAAAGGAGAAAATGTAAAGTCAGTAAACTCTGGTACTTGGATAGCATCAAACTCAGAACTTACTCCTAGTGAGAGCCTTGCTACTACTGATGAT___GAAACTTTTGAGAAGAACTTTGAAAGAGAAACCCATAAAATAAGTGAGCAAAATGATGCTGATAATGCTAGTGTCCTGTCTGTATCATCAAATTTTGAGCCTTTTGCAACAGATGATCTAG___GTAACACCGTGATTCACTTAGATCAAGCATTAGCCAGAATGAGAGAATATGAGCGTATGAAGACTGAGGCTGAAAGTAACTCAAATATGAGATGCACCTGCAGGATTATTGAGGATGGAGATGGTGCTGGTGCAGGTACTACAGTTAATAATTTAGAAG___AAACTCCCGTTATTGAAAATCGTAGTTCACAACAACCTGTAAGTGAAGTTTCTACCATCCCATGTCCTAGAATTGATACTCAGCAGCTGGACCGGCAAATTAAAGCAATTATGAAAGAAGTCATTCCTTTTTTGAAG___GAGCACATGGATGAAGTATGCTCCTCGCAGCTTCTAACTTCAGTAAGGCGCATGGTTTTGACCCTTACCCAGCAAAATGATGAGAGCAAAGAGTTTGTAAAGTTCTTTCATAAACAACTTGGAAGTATATTACAG___GATTCACTGGCAAAATTTGCTGGCAGAAAACTGAAAGACTGTGGAGAAGATCTTCTTGTAGAGATATCTGAAGTGTTGTTCAATGAATTGGCTTTCTTTAAGCTTATGCAAGATTTGGATAATAATAGTATAACTGTTAAACAGAGATGCAAAAGGAAAATAGAAGCAACTGGAGTGATACAATCTTGTGCCAAAGAG___GCTAAAAGGATTCTTGAAGATCATGGCTCACCTGCTGGAGAGATTGATGATGAAGACAAA___GACAAGGATGAAACTGAAACAGTTAAGCAGACTCAAACATCTGAGGTGTATGATGGTCCCAAAAATGTAAGATCTGATATTTCTGATCAAGAGGAAGATGAAGAAAGTGAAGGATGTCCAGTGTCTATTA___ATTTGTCTAAAGCTGAAACTCAGGCTTTAACTAATTATGGAAGTGGAGAAGATGAAAATGAGGATGAAGAAATGGAAGAATTTGAAGAAGGCCCTGTGGATGTCCAGACTTCCCTCCAGGCTAACACTGAAGCTACTGAAGAAAATGAACATGATGAACAG___GAAGCAGAATCTGGTAATATAAGTCAAAAGTCTGATGAAGAAGATTTTGTAAAAGTTGAAGATTTACCACTGAAACTGACAATATATTCAGAG___GCAGATCTAAGAAAGAAAATGGTAGAAGAAGAACAGAAAAACCATTTATCTGGTGAAATATGTGAAATGCAGACCGAAGAATTAGCTGGAAATTCTGAGACACTAAAAGAACCTG___AAACGGTGGGAGCCCAGAGTATATGAGATGTCTTCAGAGGCTCATCTAACTCTGTCCTTACATACTCAATGCATATATGAAAACAATACTAAATAAACATCTGATCTGTATAAAAATGTAAATTAGTTTGACACTGCTTTTTTGATAGGTGTGGTCATTTCTCCCCATGGTAGTTTAAAACATCAGAAACTGAATTCTGGACAGATTTAAGCCTTGACACACTGTGTTTTTTTTTTTTTCCCCCTTCTTTTTTGGGTCTTCATTTTTTTCCCCATTGTGATGTTTGGTAACGAATTTAAAATGTAGTTTTAAATAAAGTTTGGACTTATCTATAAAGTATCTTTTTTGGAAATTATATTGAATTCTATACAGCAAGTCAATGTTTTATATAACTTTAGGCTGCTCAGAGAAGAGCAATGGTTAAGAGTTAGTTAGAGAAATATATTATTTGTTATAAAGCCCATCCATTAGGCCAGTCTTCCAACTAATGCCAGTGTTGCTGCTGTTGGGTCTGATGTTCTTCTTTTAGATACCTGCAGGTCCTATTCCTGTGCAAGAATAGGGCAGATTATCAAGATATCCAGGATACCTATGAAGTTATTATAGAATATTTATTAATCCATTGAAATTGGATAATAAGTTTAGAACATAGGTTCTCAGTATCTAGAACTTACATCATTATCATCTGTTTGTTAGGATTTGAAATTCTGGAAAATATTTATCTACATCGCCTCAGACTAAAAGTAAAAAAAATAAGCTTTATATAATTAGGGAGATTTCTGCACAGAGAAGTAACATTGTGGTTAATTTTAAATGAAAAACTTAACTTTTTCAAGTGGGGATAAATAATACAACTAAATTTCTGTAATAGTAAGATTCTGTATGCCTTCAGATAAACTTGCCTATTGAGATGGTAATTTAAAGCCAAAGCATAGCAGTTTCTTTTGTGTGTAGTGAGGTTGAAGCAGATTTGCAGGTGAAGTATTGAAAGTTTATGTGACTTTAAGTCAGCTTTTGAAAAGTGATTGATTTGCTTTTTATCCCAAACTGTCCATATACCCAGTAAGGCTTCAAAAAACCAGTCAACAATGAGTAAGTCAATCTTATAGATTCTTCTTCCTCGAATAAAATACAAAGAATTAGTTCCAATAAGTATTTTAACTTTGTTAACAACTGAAATACCCCATAAAAAAAGAACTTGTTGAGAGTATTTCTTTAAAATGGTTACTTGCTGCCCAGGCACCATGGCTCACTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATTGAGACCATCCTGCCCAACATGGGGGAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGAGAGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGAATAGCCTGAACCCGGGAGGTGGAGGTTGCAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAACTTGCTGTATACCTCAGTGTAATGTCCATTCAAGGAGTATTAAATGAGGATTTCCCTGCGAGGACATTTACTGTATTGCTACTTAAATTATGGAAGACAATATATCTTCAACTTTAATAAAACCTATTCAGAAAATTACCAATTCAGAATTCGGAGTTCTTATCCAGGTGCTCTAACTAACTTCAGGGAAATTGGAACAATAAGTTATGTTACATGCACACTCAAATTCTTTATTTTCTCCACTTTAAGCAGGAAAGGGTAAAAACTGTTTTGGTACTCAAGCCCAGCCTTACATACTGTGTTTCTCTCTCTGTCTGCATGCATATTAAAGTGGAAAAATTGTATTTATATCTTAGTTATTACCATAGTACCTATGAACCTTATCAAAATTGCTTATTTGACTGGTGTTACAGCTGCTATTAATCTAAGTCTATTGTTTTTCTATTTTAGTAGATAATTTAGTTTTAAAATACGTAGGGTTTGAGAGCAGATATATTTATTTAATCTGTTTTCTCTAGTAACTATTGCTGAAGGGTTAGGCATTCAGTATTCCTATTTGTCCTAATTTTGAAGTTAAAAATTTTGGTTACAGATAGATAGAGGGAGAAAAGTTCAAAATGAGTGAGAGAGAACTTTATGCAGGTTGAGATAATGCCTAAAATAATGAGCTGGCCAGACTGTGGAGGTACTCTTTGTATTTTGTAACATTGACTTTGGGTAAATGCTTTTTCACTGTTAATAAATATATATCCTGTAT)$ . 11CO043 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 5 1 0 70 37 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGT)TGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAaACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 11CO043 ENSG00000078674.17 ENSG00000078674.17 +/+ +/- chr8:17972687 chr8:17958298 CDS/splice-site intron inversion/3'-3' 1 3 0 36 6 medium out-of-frame . . . . ENSG00000078674.17 ENSG00000078674.17 ENST00000327578.9 . downstream downstream mismatches(1) ^(CTCCAGTCTAGCTCGCATTGCGGCTCCCGCCCGGGCGAGTTCTCGCCCCCGCGCGGCCGTTGCCGAGGAGACGGCGCATGTCCCGCCGCGCGTTGCCCCCTCTGCAGTACCCCCGCCCCTCTTCTCCCACCACAATGAGATCCTAAGATGGCGGTGGCTGCGGCGGTTGGCGCTGCGTAGCTGAGGTCGAAAAGGCGGCCACTGGGGCCGAGGCAGCCAGGAAACGTGTGGGCCTCTCTGCTGCGGTCTCCGAGGGCCGACCGCTGCCGGCGGCGGGTCGTGGGGGCTGACTGTCGCTCTGCCTTTGACAGGAGAGGCTGCTTCTTGTAGAG___GAAACAGCTTTGAAGTGTGGAGCGGGAAAGGAGCAGTTTCTGAGCTGCAAAAACTAGTTTCTAAACAG___AGAGTTAATTGTTAAATCCAGTATGGCCACAGGAGGAGGTCCCTTTGAAGATGGCATGAATGATCAGGATTTACCAAACTGGAGTAATGAGAATGTTGATGACAGGCTCAACAATATG___GATTGGGGTGCCCAACAGAAGAAAGCAAATAGATCATCAGAAAAGAATAAGAAAAAGTTTGGTGTAGAAAGTGATAAAAGAGTAACCAATGATATTTCTCCGGAGTCGTCACCAGGAGTTGGAAGGCGAAGAACAAAGACTCCACATACGTTCCCACACAGTAGATACATGAGTCAGATGTCTGTCCCAGAGCAGGCAGAATTAGAGAAACTGAAACAGCGGATAAACTTCAGTGATTTAGATCAG___AGAAGCATTGGAAGTGATTCCCAAGGTAGAGCAACAGCTGCTAACAACAAACGTCAGCTTAGTGAAAACCGAAAGCCCTTCAACTTTTTGCCTATGCAGATTAATACTAACAAGAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGATTGGATCAGCACAGTGTAAAGAGTTGTTTGCTTCTGCTTTAAGTAATGACCTCTTGCAAAACTGTCAGGTGTCTGAAGAAGATGGGAGGGGAGAACCTGCAATGGAGAGCAGCCAG___ATTGTAAGCAGGCTTGTTCAAATTCGCGATTATATTACTAAAGCTAGTTCCATGCGGGAAGATCTTGTAGAGAAAAATGAGAGATCTGCTAATGTTGAGCGCCTTACTCATCTAATAGATCACCTTAAAGAACAAGAGAAGTCATATATGAAATTTCTTAAAAAAATCCTT___GCCAGAGATCCTCAGCAGGAGCCTATGGAAGAGATAGAAAATTTGAAGAAACAACATGATTTATTAAAAAGAATGTTACAACAGCAGGAGCAACTAAGAGCTCTACAGGGACGGCAGGCTGCACTTCTAGCTCTGCAACATAAAGCAGAGCAAGCTATTGCAGTGATGGATGATTCTG___TTGTTGCAGAAACTGCAGGTAGCTTATCTGGCGTCAGTATCACATCTGAACTAAATGAAGAATTGAATGACTTAATTCAGCGTTTTCATAATCAGCTTCGTGATTCTCAG___CCTCCAGCTGTTCCAGACAATAGAAGACAGGCAGAAAGTCTTTCATTAACTAGGGAGGTTTCCCAGAGCAGGAAACCATCAGCTTCAGAACGTTTACCTGATGAGAAAGTCGAACTTTTTAGCAAAATGAGAGTGCTACAGGAAAAGAAACAAAAAATGGACAAATTGCTTGGAGAACTTCATACACTTCGAGATCAGCATCTTAACAATTCATCAT___CCTCTCCACAAAGGAGTGTCGATCAGAGAAGTACTTCAGCTCCCTCTGCTTCTGTAGGCTTGGCACCGGTTGTCAATGGAGAATCCAATAGCCTCACATCATCTGTTCCTTATCCTACTGCTTCTCTAGTATCTCAGAATGAGAGTGAAAACGAAGGCCACCTCAATCCATCTGAAAAACTCCA___GAAGTTAAATGAAGTTCGAAAGAGATTGAATGAGCTAAGAGAATTAGTTCATTATTATGAACAAACGTCAGACATGATGACAGATGCTGTGAATGAAAACAGGAAAGATGAAGAAACTGAAGAGTCAGAATATGATTCTGAGCATGAAAATTCCGAGCCTGTTACTAACATTCG___AAATCCACAAGTAGCTTCCACTTGGAATGAAGTAAATAGTCATAGTAATGCACAGTGTGTTTCTAATAATAGAGATGGGCGAACAGTTAATTCTAATTGTGAAATTAACAACAGATCTGCTGCCAACATAAGGGCTCTAAACATGCCTCCTTCTTTAG___CAGATTGTCGATATAATAGAGAAGGGGAACAGGAGATTCATGTTGCACAAGGTGAAGATGATGAGGAGGAGGAGGAAGAAGCAGAAGAGGAGGGAGTCAGTGGAGCTTCATTATCTAGTCACAGGAGCAGTCTGGTTGATGAGCATCCAGAAGATGCTGAATTTGAACAGAAGATCAACCGACTTATGGCTGCAAAACAGAAACTTAGACAGTTACAAGATCTTGTTGCTATGGTACAG___GATGATGATGCAGCTCAAGGAGTTATCTCTGCCAGTGCATCAAATTTGGATGATTTCTACCCAGCAGAAGAAGACACCAAGCAAAATTCAAATAACACTAGAGGAAATGCCAATAAAACACAGAAAGATACTGGAGTAAATGAAAAGGCAAG___AGAGAAATTTTATGAGGCTAAACTACAGCAGCAACAGAGAGAGCTAAAACAATTGCAGGAAGAAAGAAAGAAACTGATTGACATTCAGGAGAAAATTCAAGCATTGCAAACGGCATGCCCTGACTTACAG___CTGTCAGCTGCTAGTGTGGGTAACTGTCCCACCAAAAAATATATGCCAGCTGTTACTTCAACCCCAACTGTTAATCAACACGAGACCAGTACAAGCAAATCTGTTTTTGAGCCTGAAGATTCTTCAATAGTAGATAATGAG___TTGTGGTCAGAAATGAGAAGACATGAAATGTTGAGGGAGGAGCTGCGACAGAGAAGAAAGCAGCTTGAAGCTCTGATGGCTGAACATCAGAGGAGGCAAGGTCTAGCTGAAACTGCATCTCCAGTGGCTGTGTCATTGAGAAGTGATGGATCTGAGAACCTATGTACTCCTCAGCAAAGTAGAACAGAAAA___AACGATGGCAACTTGGGGAGGGTCTACCCAGTGTGCACTAGATGAAGAAGGAGATGAAGACGGTTACCTTTCTGAAGGAATTGTTCGGACAGATGAAGAGGAGGAAGAAGAGCAAGATGCCAGTTCCAATGATAACTTTTCTGTGTGTCCTTCTAACAGTGTGAATCATAACTCCTACAATGGAAAGGAAACTAAAAATAG___GTGGAAGAACAATTGCCCTTTTTCGGCAGATGAAAATTATCGTCCTTTAGCCAAGACAAGGCAACAGAATATCAGCATGCAACGGCAAGAAAACCTTCGTTGGGTGTCAGAGCTCTCTTACGTAGAAGAGAAAGAACAATGGCAAGAACAAATCAATCAGCTAAAGAAACAGCTTGATTTTAGTGTCAGTATTTGTCAGACTTTGATGCAAGACCAGCAG___ACTCTATCTTGTCTGCTACAAACTCTTCTCACGGGTCCTTACAGTGTTATGCCCAGCAATGTTGCATCTCCTCAAGTACACTTCATAATGCACCAGTTGAACCAGTGCTATACTCAGCTAACATGGCAACAGAATAATGTTCAGAG___GTTGAAACAAATGCTAAATGAACTTATGCGCCAGCAAAATCAGCATCCAGAAAAACCTGGAGGCAAGGAAAGAGGCAGTAGTGCATCGCACCCTCCTTCTCCCAGTTTATTTTGTCCTTTCAGCTTTCCAACACAGCCTGTAAATCTCTTCAATATACCTGGATTTACTAACTTTTCATCATTTGCACCAG___GTATGAATTTCAGCCCTTTATTTCCTTCTAATTTTGGAGATTTTTCTCAGAATATCTCTACACCCAGTGAACAGCAGCAACCCTTAGCCCAGAATTCTTCAGGAAAAACAGAATATATGGCTTTTCCAAAACCTTTTGAAAGCAGTTCCTCTATTGGAGCAGAGAAACCAAG___GAATAAAAAACTGCCTGAAGAGGAGGTGGAAAGCAGTAGGACACCATGGTTATATGAACAAGAAGGTGAAGTAGAGAAACCATTTATCAAGACTGGATTTTCAGTGTCTGTAGAAAAATCTACAAGTAGTAACCGCAAAAATCAATTAGATACAAACGGAAGAAGA)CGCCAGTTTGATGAAGAATCACTGGAAAGCTTTAGCAGTATGCCTGATCCAGTAGATCCAACAACAGTGACTAAAACATTCAAGACAAGAAAAGCGTCTGCACAGGCCcGCCTGGCATCTAAAGATAAAACTCCCAAGTCAAAAAGTAAGAAGAGGAATTCTACTCAGCTGAAAAGCAGAGTTAAAAACATCA|TAGGTTAAGATCGCAGGCTCTGGTATCAGGAAGTCTGAATTCTGGATTGGACAGTCATATAAACTTCGGCAATTAAGATCTCTTTAACCTATTTAATGTCTACCTCATTGAGATGCTGCAAGTTGTACATAATATAAGGCCA MATGGGPFEDGMNDQDLPNWSNENVDDRLNNMDWGAQQKKANRSSEKNKKKFGVESDKRVTNDISPESSPGVGRRRTKTPHTFPHSRYMSQMSVPEQAELEKLKQRINFSDLDQRSIGSDSQGRATAANNKRQLSENRKPFNFLPMQINTNKSKDASTNPPNRETIGSAQCKELFASALSNDLLQNCQVSEEDGRGEPAMESSQIVSRLVQIRDYITKASSMREDLVEKNERSANVERLTHLIDHLKEQEKSYMKFLKKILARDPQQEPMEEIENLKKQHDLLKRMLQQQEQLRALQGRQAALLALQHKAEQAIAVMDDSVVAETAGSLSGVSITSELNEELNDLIQRFHNQLRDSQPPAVPDNRRQAESLSLTREVSQSRKPSASERLPDEKVELFSKMRVLQEKKQKMDKLLGELHTLRDQHLNNSSSSPQRSVDQRSTSAPSASVGLAPVVNGESNSLTSSVPYPTASLVSQNESENEGHLNPSEKLQKLNEVRKRLNELRELVHYYEQTSDMMTDAVNENRKDEETEESEYDSEHENSEPVTNIRNPQVASTWNEVNSHSNAQCVSNNRDGRTVNSNCEINNRSAANIRALNMPPSLADCRYNREGEQEIHVAQGEDDEEEEEEAEEEGVSGASLSSHRSSLVDEHPEDAEFEQKINRLMAAKQKLRQLQDLVAMVQDDDAAQGVISASASNLDDFYPAEEDTKQNSNNTRGNANKTQKDTGVNEKAREKFYEAKLQQQQRELKQLQEERKKLIDIQEKIQALQTACPDLQLSAASVGNCPTKKYMPAVTSTPTVNQHETSTSKSVFEPEDSSIVDNELWSEMRRHEMLREELRQRRKQLEALMAEHQRRQGLAETASPVAVSLRSDGSENLCTPQQSRTEKTMATWGGSTQCALDEEGDEDGYLSEGIVRTDEEEEEEQDASSNDNFSVCPSNSVNHNSYNGKETKNRWKNNCPFSADENYRPLAKTRQQNISMQRQENLRWVSELSYVEEKEQWQEQINQLKKQLDFSVSICQTLMQDQQTLSCLLQTLLTGPYSVMPSNVASPQVHFIMHQLNQCYTQLTWQQNNVQRLKQMLNELMRQQNQHPEKPGGKERGSSASHPPSPSLFCPFSFPTQPVNLFNIPGFTNFSSFAPGMNFSPLFPSNFGDFSQNISTPSEQQQPLAQNSSGKTEYMAFPKPFESSSSIGAEKPRNKKLPEEEVESSRTPWLYEQEGEVEKPFIKTGFSVSVEKSTSSNRKNQLDTNGRRRQFDEESLESFSSMPDPVDPTTVTKTFKTRKASAQArLASKDKTPKSKSKKRNSTQLKSRVKNI|ig* 11CO043 ENSG00000104611.12 ENSG00000156011.17 +/+ -/+ chr8:19319728 chr8:18913360 CDS/splice-site intron duplication/5'-5' 0 2 0 38 6 medium out-of-frame . . . . ENSG00000104611.12 ENSG00000156011.17 ENST00000265807.8 . downstream upstream . ^(GTATTTGCTCAGCCCGCCTGCGCCGCTTGGGACGCCTCTGCCTTTCCCTCCCTCCCTTCCCCGACGGCTTCTGGCGGCCAAGTGGATGTGGCGGGTGATCGAGCCACCCTGCCCAGGGGCGCCCAGCACTG___GTTCAGTGAACAGCATTTTGGACAGGACATTTGGTGCCAGGTCTGAGTAGCCAGTTTGCTGAATTATTGTCCCAGTCAGCCAGGATTGTGAGCTGTTTGGGAAGTTTCGTGGAAACGCCCAAGTGCCAGCACAGGTGGAGGGACACCTGGAGGCCAGTTTCAGGAACTTTTGCCACAAGTATAAAAGACTTCAGAAGTGCAAAGATGCTGAAACAGATACTGTCGGAGATGTACATAGATCCTGATCTACTGGCAGAGCTCAGCGAAGAACAGAAACAGATCCTGTTCTTCAAGATGAGAGAGGAACAGATCCGACGATGGAAAGAAAGAGAAGCAGCTAT)GGAAAGAAAGGAGTCCCTGCCAGTGAAACCCAGACCAAAGAAAG|AGTGCAAACTTCAGATTTCCTGTCATTTTCCACATGATTCCTGGGCAATCATACCCACTTCCAAAATGTCTTCTAAGCCCCAATGGCCAAAGGCTTCAGACCTGCACCCACAGACCCAGAAACCAGTCTGGCCCTTGCAGATAGAGACTCCAGGCCTCCCAGGAGCCAGGCCAGCCTCAGGGGCCTCATGCTCTAC MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKK|ecklqischfphdswaiiptskmsskpqwpkasdlhpqtqkpvwplqietpglpgarpasgascs 11CO043 ENSG00000206672.1(62223),ENSG00000227706.4(193345) ENSG00000180879.14 ./+ +/+ chr6:67687687 chrX:153797460 intergenic CDS/splice-site translocation 0 2 0 0 1648 medium . . |Translocon-associated_protein__delta_subunit_precursor_(TRAP-delta)(100%) . . . ENSG00000180879.14 . ENST00000320857.7 downstream upstream . GAAATCCAAAAAAATAATAAAAAA|CATGGCTCTCTATGCTGACGTCGGTGGAAAACAATTCCCTGTCACTCGAGGCCAGGATGTGGGGCGTTATCAG___GTGTCCTGGAGCCTGGACCACAAGAGCGCCCACGCAGGCACCTATGAGGTTAGATTCTTCGACGAGGAGTCCTACAGCCTCCTCAGGAAG___GCTCAGAGGAATAACGAGGACATTTCCATCATCCCGCCTCTGTTTACAGTCAGCGTGGACCATCGG(___GGCACTTGGAACGGGCCCTGGGTGTCCACTGAGGTGCTGGCTGCGGCGATCGGCCTTGTGATCTACTACTTGGCCTTCAGTGCGAAGAGCCACATCCAGGCCTGAGGGCGGCACCCCAGCCCTGCCCTTGCTTCCTTCAATAAACATCACAGGACCTGGGACTGCACAGG)$ . 11CO043 ENSG00000067601.8 ENSG00000214300.7 -/- +/- chr7:67292463 chr7:100321084 exon/splice-site 3'UTR duplication/5'-5' 0 2 0 11 46 medium . . . . . ENSG00000067601.8 ENSG00000214300.7 ENST00000414507.2 . upstream downstream . ^(GGCGGATCGGGTATTGAGTCCATGGAGCGAGCTGAGAGCTAGAG___TACAGAACCTGCTAAGGCCATCAAACCTATCGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCGGTGGTACTGAGTCTAAGCACTGCGGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACCAATATTG___ATCTAAAGCTTAAGGACTATGGAGTGGATCTCATTGAAGTTTCAGACAATGGATGTGGGGTAGAAGAAGAAAACTTTGAAGGCTTAA___CGATGTCACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACACTACCTGTGCACCATAAGGAATTTCAAAGGAATATTAAGAAG___ACGTGCCTGTTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCCTGAGGCCTC)CCCAGCCATGCTTCCTGTACAGCCTGCAGAACT|GACTCCTAGAAGTACCCCACCtCACCCCTGCTCCTTGGAGGACAACGTGATCACTGTATTCAGCTCTGTCAAGAATGGTCCAGGTTCTTCTAGATGATCTGCACAAATGGCTCCTCTCCTCCTTCCTGATGTCTGCCATTAGCACTGGAATAAAGTTCCTGC . 11CO044 ENSG00000095637.22 ENSG00000107438.9 -/- -/- chr10:95491035 chr10:95264063 5'UTR/splice-site CDS/splice-site deletion/read-through 9 24 0 53 431 high . . |Domain_of_unknown_function_(DUF4749)(100%),LIM_domain(100%) . . ENSG00000095637.22 ENSG00000107438.9 ENST00000306402.10 ENST00000329399.7 upstream downstream duplicates(1),mismappers(1),mismatches(3) ^(AGCGCTGAGTCCCAGAAAAACAGAGCGGGGCCAGCTGCAGCGTGTAGT)GCGAGTGGGGCGGACGCGCGCAGCCCGCCCGCCCGGCGACCAGCAAG___GAGTTGGCATCCTTTGGAAGAGTTCGTGAAAGCTTTCTGCCCAGAGCTCCTGGACCAATGCATCTTCCCACCACCTTAAACCACTG|GAGGTCCTGCACATAGGAAGCGCCCACAACCGAAGTGCCATGCCCTTTACCGCCTCGCCTGCCTCCAGCACTACTGCCAGGGTCATCACAAACCAGTACAACAACCCAGCTGGCCTCTACTCTTCTGAAAATATCTCCAACTTCAACAATGCCCTGGAGTCAAAGACTGCTGCCAGCGGGGTGGAGGCGAACAGCAG(ACC___CTTAGACCATGCTCAGCCTCCAAGCAGCCTTGTCATCGACAAAGAATCTGAAGTTTACAAGATGCTTCAGGAGAAACAGGAGTTGAATGAGCCCCCGAAACAGTCCACGTCTTTCTTGGTTTTGCAGGAAATCCTGGAGTCTGAAGAAAAAG___GGGATCCCAACAAGCCCTCAGGATTCAGAAGTGTTAAAGCTCCTGTCACTAAAGTGGCTGCGTCGATTGGAAATGCTCAGAAGTTGCCTATGTGTGACAAATGTGGCACTGGGATTGT___TGGTGTGTTTGTGAAGCTGCGGGACCGTCACCGCCACCCTGAGTGTTATGTGTGCACTGACTGTGGCACCAACCTGAAACAGAAGGGCCATTTCTTTGTGGAGGATCAAATCTACTGTGAGAAGCATGCCCGGGAGCGAGTCACACCACCTGAGGGTTATGAAGTGGTCACTGTGTTCCCCAAGTGAGCCAGCAGATCTGACCACTGTTCTCCAGCAGGCCTCTGCTGCAGCTTTTTCTCTCAGTGTTCTGGCCCTCTCCTCTCTTGAAAGTTCTCTGCTTACTTTGGTTTTCCCTCTGCTTGTAAAACATTGAGTCCCCTCCCTGCCTTGGTTAATTGACTCACACCAGCTGTGCGATGCCCGCTTTTACAATTAAAGGAAAACTGTTTTGTTCAGTGTCACCTTGTCAGCAACACTGTGTCCCTTCGCCCCACCGTTCTTCTCTGCTGCATTTGGACATCAGCCAAATTTGAACCCAATCAAATATAACGTGTCTGACACTGATTTTGTTTTTACTCAATAAATGTATAGACTACAAA)$ . 11CO044 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 16 0 31 39 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) ACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGgCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO044 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 22 0 29 109 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2) CGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGC(TGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO044 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 5 0 161 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCA)TGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTA...TCGTAGGAAACCCTGGCATCATATCTCAGCAAGGCTAGAGGGGACTCTCAGCTTCGCCTTGCCCTCCTCTTTCCTCACTGGTGTAATGCGTATATTAATTTGTCTTCAGGTAAAACTGGACTAAGAGGGGAAATGACTAAGAGGGGAA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO044 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 10 0 62 31 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGG)AGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO044 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 10 0 13 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(1) CGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGAT(AGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO044 ENSG00000207304.1 ENSG00000115839.18 -/- +/+ chr11:93732257 chr2:135137348 exon intron translocation 3 1 0 410 55 medium . . . . . ENSG00000207304.1 ENSG00000115839.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCAT)CGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 11CO044 ENSG00000207304.1 ENSG00000121988.18 -/- -/+ chr11:93732257 chr2:135137348 exon intron translocation/5'-5' 3 1 0 410 55 medium . . . . . ENSG00000207304.1 ENSG00000121988.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCAT)CGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 11CO045 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 12 0 44 48 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),low_entropy(1),mismatches(1) TGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...AGGTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO045 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 24 1 41 125 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2),mismatches(1) GGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO045 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 6 7 2 24 15 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCC)CCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATG...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGGAAGAAGAGCCAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpedny 11CO045 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 4 0 154 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCT)CGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO045 ENSG00000006757.12 ENSG00000182583.12(28899),ENSG00000274923.1(23472) -/- ./- chrX:7912028 chrX:7873042 CDS/splice-site intergenic deletion/read-through 8 6 0 46 17 high out-of-frame . Patatin-like_phospholipase(100%)| . . ENSG00000006757.12 . ENST00000381042.9 . upstream downstream duplicates(1) ^(ACTTTCCTGGGCCGGCTCGCGGAGAGCGTAGCGCGGCCTTGGTGGCGGAATGGCGTTGAGTGACGGCCCGGCCCCGCCATCTGGTTAAAGGGACTCGTTCAACACGGAAGTGTCCCGGGGCTGCATTG___TGCTACAGCTAGAATGAAGCACATCAACCTATCATTTGCAGCGTGTGGATTTCTGGGCATTTACCACTTGGGGGCAGCATCTGCACTTTGCAGACATGGCAAAAAACTTGTGAAGGATGTCAAAGCCTTCGCTGGGGCGTCTGCGGGATCGTTGGTTGCTTCTGTTCTGCTAACAGCACCAGAAAAAATAGAG___GAATGTAACCAATTTACCTACAAGTTTGCCGAAGAAATCAGAAGGCAGTCTTTCGGGGCAGTAACGCCCGGTTATGACTTCATGGCCCGACTAAG___AAGTGGGATGGAGTCGATTCTTCCTCCCAGCGCTCACGAGCTGGCCCA)GAACCGACTGCACGTATCCATCACCAACGCCAAAACCAGAGAAAATCACTTAGTCTCCACTTTTTCCTCCAGGGAGGACCTCATTAAG___GTCCTCCTAGCCAGCAGTTTTGTGCCCATTTATGCAGGACTGAAGCTAGTGGAATACAAAGGGCAG|CCCTGTAGAATTGTACCAATTTGCATACTATCCTACACCATGTGTCAAAAGAGGCGAAGAAAATGCCACGGCTTGTATTACCTGACAAGGCCACTGTTTTGAAGCTCAGCGGCGTTGCTACCAACAGGGAC MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASAGSLVASVLLTAPEKIEECNQFTYKFAEEIRRQSFGAVTPGYDFMARLRSGMESILPPSAHELAQNRLHVSITNAKTRENHLVSTFSSREDLIKVLLASSFVPIYAGLKLVEYKGQ|pcrivpicilsytmcqkrrrkchglyyltrplf* 11CO045 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 6 0 12 21 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream mismatches(1) CGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAG(GGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO045 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 1 11 0 13 26 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream . CAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCAC(ATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 11CO045 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 1 9 0 49 8 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGG)CAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO045 ENSG00000152520.14 ENSG00000285228.1(53547),ENSG00000075673.11(12881) +/+ ./+ chr13:28177935 chr13:24667530 CDS/splice-site intergenic duplication 2 3 0 90 9 high out-of-frame . . . . ENSG00000152520.14 . ENST00000380958.8 . downstream upstream . ^(ACCCGCCCAGGCTTTTATCCGGCACCGGCAGCGTCTTCCTTTCCTCCCCCGTCTATGGTGGTGGCGGCGGCGGCTCCTCGGGCGGCGGCGGAAGACGAGGCTGCGGCGTTGCCATGAACAGTGGCGGCGGCCTCCCGCCCCCCTCGGCCGCCGCCTCCCCTTCCTCCTCCTCGCTGGCGGCGGCGGTGGCGGTGGTGGCCCCGCCGGGGGTCGGGGGTGTCCCCGGCGGGGCGGCGGTAGGAGTGAAGCTGAAGTACTGCCGCTACTACGCTAAGGATAAGACTTGCTTCTACGGGGAGGAGTGTCAGTTCCTGCATGAGGACCCTGCCGCCGGGGCTGCCCCGGGCCTCGGCCTCCATAGCAACAGCGTCCCCCTGGCTCTGGCTGGTGCACCCGTGGCCGGCTTTCCGCCGGGAGCCGTCGCGGGCGGGGGAGCTGGGCCGCCCCCCGGGCCCAAGAAGCCGGACCTGGGGGACCCGGGGACCGGAGCCGCAGCCGGCGGAGGAGGCAGTAGCGGGGGACTCGATGGACCGCGGCTGGCAA___TTCCAGGAATGGATGGAGGTGCTTTAACTGATACAAGTCT)CACAGATTCCTATTTTAGCACCAGCTTTATTGGAGTCAATGGATTTGGAAGCCCTGTAGAAACAAAATATCCCCTGATGCAG___AGAATGACTAATAGTAGCAGCTCCCCAAGCCTTCTAAATGACAGTGCCAAGCCATATTCAGCCCATG___ATCCTCTAACATCACCTGCTTCATCCTTGTTTAATGACTTTGGTGCCCTCAACATCTCTCAGAGACGAAAG|AAGGAGTTTACATGCTGCATTTGAAAACAGAGTTCATAACCAATATGAAATTTAGCGGAAGTAACTTGACCTCATGGAATTTGTGGGAAAACTCAGAATTCAAATCACTTCCTTGCAGCCTCTCAAGTGAGTCGAAAGCAGAGCCCCTACTCCGTGCTTCTCTCGCCTGGAACTCACTGTCACTGTCTGCTGG MNSGGGLPPPSAAASPSSSSLAAAVAVVAPPGVGGVPGGAAVGVKLKYCRYYAKDKTCFYGEECQFLHEDPAAGAAPGLGLHSNSVPLALAGAPVAGFPPGAVAGGGAGPPPGPKKPDLGDPGTGAAAGGGGSSGGLDGPRLAIPGMDGGALTDTSLTDSYFSTSFIGVNGFGSPVETKYPLMQRMTNSSSSPSLLNDSAKPYSAHDPLTSPASSLFNDFGALNISQRRK|keftcci* 11CO045 ENSG00000141551.14 ENSG00000104290.11 -/- +/+ chr17:82243211 chr8:28541166 3'UTR intron translocation 2 1 0 189 3 medium stop-codon . Protein_kinase_domain(100%)|Frizzled/Smoothened_family_membrane_region(100%) . . ENSG00000141551.14 ENSG00000104290.11 ENST00000314028.10 . upstream upstream . ^(GCCCCGCCGGGTTGCTAGGGGAAGTGACGTCACAGCGCGATGGCGGCGGCTCCTTTAGGCAGCTGAAAGGGGATTTAGGCCCGGAAGATCCGAGTCCATCCGCGGCGGGGAGAGGGCAAGCGGGACCGGTAGGGGCCGGAGCAGCGGCGGCGGCGCTCGGACTGTCCCATCCGCCCCGTATTGAGGCGCTGGGAGCGGCGGGGCGACAGGAAAGCGATGGTGAAAGCGGGGCCGTGAGGGGGGCGGAGCCGGGAGCCGGACCCGCAGTAGCGGCAGCAGCGGCGCCGCCTCCCAGAGTTCAGACCCAGGAAGCGGCCGGGAGGGCAGGAGCGAATCGGGCCGCCGCCGCCATGGAGCTGAGAGTCGGGAACAGGTACCGGCTGGGCCGGAAGATCGGCAGCGGCTCCTTCGGAGACATCTATCTCG___GTACGGACATTGCTGCAGGAGAAGAGGTTGCCATCAAGCTTGAATGTGTCAAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTACAAGATGATGCAGGGAGGAG___TGGGCATCCCCACCATCAGATGGTGCGGGGCAGAGGGGGACTACAACGTCATGGTGATGGAGCTGCTGGGGCCAAGCCTGGAGGACCTCTTCAACTTCTGCTCCAGGAAATTCAGCCTCAAAACCGTCCTGCTGCTTGCTGACCAAATG___ATCAGTCGCATCGAATACATTCATTCAAAGAACTTCATCCACCGGGATGTGAAGCCAGACAACTTCCTCATGGGCCTGGGGAAGAAGGGCAACCTGGTGTACATCATCGACTTCGGGCTGGCCAAGAAGTACCGGGATGCACGCACCCACCAGCACATCCCCTATCGTGAGAACAAGAACCTCACGGGGACGGCGCGGTACGCCTCCATCAACACGCACCTTGGAATTG___AACAATCCCGAAGAGATGACTTGGAGTCTCTGGGCTACGTGCTAATGTACTTCAACCTGGGCTCTCTCCCCTGGCAGGGGCTGAAGGCTGCCACCAAGAGACAGAAATACGAAAGGATTAGCGAGAAGAAAATGTCCACCCCCATCGAAGTGTTGTGTAAAGGCTACCCTT___CCGAATTTGCCACATACCTGAATTTCTGCCGTTCCTTGCGTTTTGACGACAAGCCTGACTACTCGTACCTGCGGCAGCTTTTCCGGAATCTGTTCCATCGCCAGGGCTTCTCCTATGACTACGTGTTCGACTGGAACATGCTCAAATTT___GGTGCCAGCCGGGCCGCCGATGACGCCGAGCGGGAGCGCAGGGACCGAGAGGAGCGGCTGAGACACTCGCGGAACCCGGCTACCCGCGGCCTCCCTTCCACAGCCTCCGGCCGCCTGCGGGGGACGCAGGAAGTGGCTCCCCCCACACCCCTCACCCCTACCTCACACACGG___CTAACACCTCCCCCCGGCCCGTCTCCGGCATGGAGAGAGAGCGGAAAGTGAGTATGCGGCTGCACCGCGGGGCCCCCGTCAACATCTCCTCGTCCGACCTCACAGGCCGACAAGATACCTCTCGCATGTCCACCTCACAG___ATTCCTGGTCGGGTGGCTTCCAGTGGTCTTCAGTCTGTCGTGCACCGATGAGAACTCTCCTTATTGCTGTGAAGGGCAGACAATGCATGGCTGATCTACTCTGTTACCAATGGCTTTACTAGTGACACGTCCCCCGGTCTAGGATCGAAATGTTAACACCGGGAGCTCTCCAGGCCACTCACCCAGCGACGCTCGTGGGGGAAACATACTAAACGGACAGACTCCAAGAGCTGCCACCGCTGGGGCTGCACTGCGGCCCCCCACGTGAACTCGGTTGTAACGGGGCTGGGAAGAAAAGCAGAGAGAGAATTGCAGAGAATCAGACTCCTTTTCCAGGGCCTCAGCTCCCTCCAGTGGTGGCCGCCCTGTACTCCCTGACGATTCCACTGTAACTACCAATCTTCTACTTGGTTAAGACAGTTTTGTATCATTTTGCTAAAAATTATTGGCTTAAATCTGTGTAAAGAAAATCTGTCTTTTTATTGTTTCTTGTCTGTTTTTGCAGTCTTACAAAAAAAATGTTGACTAAGGAATTCTGAGACAGGCTGGCTTGGAGTTAGTGTATGAGGTGGAGTCGGGCAGGGAGAAGGTGCAGGTGGATCTCAAGGGTGTGTGCTGTGTTTGTTTTGCAGTGTTTTATTGTCCGCTTTGGAGAGGAGATTTCTCATCAAAAGTCCGTGGTGTGTGTGTGTGCCCGTGTGTGGTGGGACCTCTTCAACCTGATTTTGGCGTCTCACCCTCCCTCCTCCCGTAATTGACATGCCTGCTGTCAGGAACTCTTGAGGCCCTCGGAGAGCAGTTAGGGACCGCAGGCTGCCGCGGGGCAGGGGTGCAGTGGGTGTTACCAGGCAAAGCACTGCGCGCTTCTTCCCCAGGAGGTGGGCAGGCAGCTGAGAGCTTGGAAGCAGAGGCTTTGAGACCCTAGCAGGACAATTGGGAGTCCCAGGATTCAAGGTGGAAGATGCGTTTCTGGTCCCTTGGGAGAGGACTGTGAACCGAGAGGTGGTTACTGTAGTGTTTGTTGCCTTGCTGCCTTTGCACTCAGTCCATTTTCTCAGCACTCAATGCTCCTGTGCGGATTGGCACTCCGTCTGTATGAATGCCTGTGCTTAAAACCAGGAGCGGGGCTGTCCTTGCCACGTGCCAAGACTAGCTCAGAAAAGCCGGCAGGCCAGAAGGACCCACCCTGAGGTGCCAAGGAGCAGGTGACTCTCCCAACCGGACCCAGAACCTTCACGGCCAGAAAGTAGAGTCTGCGCTGTGACCTTCTGTTGGGCGCGTGTCTGTTGGTCAGAAGTGAAGCAGCGTGCGTGGGGCCGAGTCCCACCAGAAGGCAGGTGGCCTCCGTGAGCTGGTGCTGCCCCAGGCTCCATGCTGCTGTGCCC)TGAGGTTCCCAGGATGCCTTCTCGCCTCTCACTCCGCAGCACTTGGGCGGTAGCCAGTGGCCATGTGCTCCCAACCCCAATGCGCAGGGCAGTCTGTGTTCGTGGGCACTTCGGCTGGACCCCATCACGATGGACGATGTTCCCTTTGGACTCTAGGGCTTCGAAGGTGTGCACCTTGGTTCTCCCTTCTCCTCCCCAGAGTTCCCCGGATGCCATAACTGGCTGGCGTCCCAGAA|GGGGACACTCCTTCTTTATAGCAGTAGCTTGGCTCTTCTTCCTCAGTGTCTTGGCCCTCTGGCTCCAACACTCTGCCTGTGGCATCTTCAAAAAACAGGTGTTATTTGAGTTGCTTTCACACTGTATCCCTGCCATGGGCAGTGCTGACTTGTCTTTTCT . 11CO047 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 11 7 1 36 19 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO047 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 5 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),mismatches(1) CTCCAGGAGTGATGGGAACCACTGGGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO047 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 8 1 39 21 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGA)GTGGCAGTTTTTGGAaCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLeQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO047 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 2 0 187 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAA)AAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO047 ENSG00000244194.3(8498),ENSG00000163734.4(16215) ENSG00000163735.7 ./- -/- chr4:74020374 chr4:73998338 intergenic CDS/splice-site deletion/read-through 1 9 0 17 33 high . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . . ENSG00000163735.7 . ENST00000296027.5 upstream downstream low_entropy(2) GGTAAATTCACTAGAGTGAATTCAAGACAATATGGGGACTGAAGTCACATCCTGCAGCTACATGGAACCTGAGAATGGAGCCAGCACTAGAG|CTGGTCCTGCCGCTGCTGTGTTGAGAGAGCTGCGTTGCGTTTGTTTACAGACCACGCAgGGAGTTCATCCCAAAATGATCAGTAATCTGCAAGTGTTCGCCATAGGCCCACAGTGCTCCAAGGTGGAAGTGGT___AGCCTCCCTGAAGAACGGGAAGGAAATTTGTCTTGATCCAGAAGCCCCTTTTCTAAAGAAAGTCATCCAGAAAATTTTGGACGG___TGGAAACAAGGAAAACTGATTAAGAGAAATGAGCACGCATGG(AAAAGTTTCCCAGTCTTCAGCAGAGAAGTTTTCTGGAGGTCTCTGAACCCAGGGAAGACAAGAAGGAAAGATTTTGTTGTTGTTTGTTTATTTGTTTTTCCAGTAGTTAGCTTTCTTCCTGGATTCCTCACTTTGAAGAGTGTGAGGAAAACCTATGTTTGCCGCTTAAGCTTTCAGCTCAGCTAATGAAGTGTTTAGCATAGTACCTCTGCTATTTGCTGTTATTTTATCTGCTATGCTATTGAAGTTTTGGCAATTGACTATAGTGTGAGCCAGGAATCACTGGCTGTTAATCTTTCAAAGTGTCTTGAATTGTAGGTGACTATTATATTTCCAAGAAATATTCCTTAAGATATTAACTGAGAAGGCTGTGGATTTAATGTGGAAATGATGTTTCATAAGAATTCTGTTGATGGAAATACACTGTTATCTTCACTTTTATAAGAAATAGGAAATATTTTAATGTTTCTTGGGGAATATGTTAGAGAATTTCCTTACTCTTGATTGTGGGATACTATTTAATTATTTCACTTTAGAAAGCTGAGTGTTTCACACCTTATCTATGTAGAATATATTTCCTTATTCAGAATTTCTAAAAGTTTAAGTTCTATGAGGGCTAATATCTTATCTTCCTATAATTTTAGACATTCTTTATCTTTTTAGTATGGCAAACTGCCATCATTTACTTTTAAACTTTGATTTTATATGCTATTTATTAAGTATTTTATTAGGAGTACCATAATTCTGGTAGCTAAATATATATTTTAGATAGATGAAGAAGCTAGAAAACAGGCAAATTCCTGACTGCTAGTTTATATAGAAATGTATTCTTTTAGTTTTTAAAGTAAAGGCAAACTTAACAATGACTTGTACTCTGAAAGTTTTGGAAACGTATTCAAACAATTTGAATATAAATTTATCATTTAGTTATAAAAATATATAGCGACATCCTCGAGGCCCTAGCATTTCTCCTTGGATAGGGGACCAGAGAGAGCTTGGAATGTTAAAAACAAAACAAAACAAAAAAAAACAAGGAGAAGTTGTCCAAGGGATGTCAATTTTTTATCCCTCTGTATGGGTTAGATTTTCCAAAATCATAATTTGAAGAAGGCCAGCATTTATGGTAGAATATATAATTATATATAAGGTGGCCACGCTGGGGCAAGTTCCCTCCCCACTCACAGCTTTGGCCCCTTTCACAGAGTAGAACCTGGGTTAGAGGATTGCAGAAGACGAGCGGGAGCGGGGAGGGCAGGGAAGATGCCTGTCGGGTTTTTAGCACAGTTCATTTCACTGGGATTTTGAAGCATTTCTGTCTGAATGTAAAGCCTGTTCTAGTCCTGGTGGGACACACTGGGGTTGGGGGTGGGGGAAGATGCGGTAATGAAACCGGTTAGTCAGTGTTGTCTTAATATCCTTGATAATGCTGTAAAGTTTATTTTTACAAATATTTCTGTTTAAGCTATTTCACCTTTGTTTGGAAATCCTTCCCTTTTAAAGAGAAAATGTGACACTTGTGAAAAGGCTTGTAGGAAAGCTCCTCCCTTTTTTTCTTTAAACCTTTAAATGACAAACCTAGGTAATTAATGGTTGTGAATTTCTATTTTTGCTTTGTTTTTAATGAACATTTGTCTTTCAGAATAGGATTCTGTGATAATATTTAAATGGCAAAAACAAAACATAATTTTGTGCAATTAACAAAGCTACTGCAAGAAAAATAAAACATTTCTTGGTAAAAACGTATGTATTTATATATTATATATTTATATATAATATATATTATATATTTAGCATTGCTGAGCTTTTTAGATGCCTATTGTGTATCTTTTAAAGGTTTTGACCATTTTGTTATGAGTAATTACATATATATTACATTCACTATATTAAAATTGTACTTTTTTACTATGTGTCTCATTGGTTCATAGTCTTTATTTTGTCCTTTGAATAAACATTAAAAGATTTCTAAACTTCA)$ . 11CO047 ENSG00000183579.16 ENSG00000140848.17 +/+ +/+ chr22:29044890 chr16:57113288 CDS/splice-site CDS/splice-site translocation 5 4 0 62 107 high in-frame . |C2_domain(100%),Copine(100%) . . ENSG00000183579.16 ENSG00000140848.17 ENST00000544604.7 ENST00000290776.13 downstream upstream . ^(GATAACCCCTCACGTGGAGCAGATGAAAGGGCCGCGGCGCGACGGCCGGGGGAGCCGAGCTGAGCCTGCGACCCACAAAGCCGCCGCCGCCGCCGCCGTGATGGGGCTGTGAGGCGTCCGCCCGCGTTCGGTCCTCAGCCGGCCCGCGACTATGCCCGGCCGCGCCCGCCCTCCGCGCCCTCCCGCCGCAGGACCATGAGGCCGCGCTCGGGCGGGCGCCCAGGGGCCACGGGCCGCCGCCGCCGCCGCCTGCGCCGCCGCCCCCGCGGCCTCCGGTGCAGCCGCCTGCCGCCGCCGCCGCCGCTGCCGCTGCTGCTCGGGCTGCTGCTGGCGGCCGCGGGGCCCGGCGCGGCGCGGGCCAAGGAGACGGCGTTCGTGGAGGTGGTGCTGTTCGAGTCGAGCCCAAGCGGCGATTACACCACCTACACCACCGGCCTCACGGGCCGCTTCTCGCGGGCCGGGGCCACGCTCAGCGCCGAGGGCGAGATCGTGCAG___ATGCACCCACTGGGCCTATGTAATAACAATGACGAAGAGGACTTGTATGAATATGGCTGGGTAGGAGTGGTGAAGCTGGAACAGCCAGAATTGGACCCGAAACCATGCCTCACTGTCCTAGGCAAG___)GCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAG___CTGAACCAGGGCTCTGAAGACCCGCTCAAGAGGCCGGTGGTGTATGTGAAGGGTGCAGATGCCATTAAGCTGATGAACATCGTCAACAAGCAGAAAGTGGCTCGAGCAAGGATCCAGCACCGCCCTCCTCGA___CAACCCACTGAATACTTTGACATGGGGATTTTCCTGGCTTTCTTCGTCGTGGTCTCCTTGGTCTGCCTCATCCTCCTTGTCAAAATCAAGCTGAAGCAGCGACGCAGTCAG|TACGACAGGACAGAAACCGCGATCAACAACCTCAACCCCGCCTTCTCCAAGAAGTTCGTGCTTGACTACCACTTCGAGGAGGTACAGAAGCTCAAGTTCGCGCTCTTTGACCAGGACAAGTCCAGTATGCGGCTGGACGAGCATGACTTCCTGGGCCAGTTCTCCTG(CAGCCTGGGCACG___ATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACG___ATCGCTGCCCAGGAGCTGTCCGACAACCGCGTCATCACACTAAGCCTGGCGGGCAGGAGGCTGGACAAGAAG___GACCTCTTTGGGAAGTCAGACCCCTTTCTGGAGTTTTATAAGCCAGGAGACGATGGCAAGTGGATGCTGGTCCACAGGACTGAG___GTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAG___GTCATGTGCTACGACTATGACAATGACGGGGGCCATGACTTCATCGGCGAGTTCCAGACCTCAGTGTCACAGATGTGTGAGGCTCGAGACAGCGTCCCG___CTGGAGTTCGAGTGCATCAACCCCAAGAAGCAGAGGAAGAAGAAGAACTATAAAAACTCGGGCATCATCATCCTGCGATCCTGCAAG___ATAAACCGAGACTACTCCTTCCTTGACTACATCCTGGGAGGCTGCCAGCTCATGTTCACC___GTTGGAATAGACTTTACAGCCTCCAACGGGAATCCCCTCGACCCTTCCTCTTTGCACTATATCAACCCTATGGGCACCAACGAATATCTGTCGGCCATCTGGGCTGTTGGGCAGATCATTCAGGACTACGACAG___TGATAAGATGTTTCCAGCTCTGGGATTCGGGGCCCAGTTACCCCCAGACTGGAAG___GTCTCCCATGAGTTTGCCATCAACTTCAACCCCACCAACCCCTTCTGCTCAG___GTGTGGATGGTATTGCCCAGGCGTACTCAGCTTGCCTGCCCCACATCCGCTTCTACGGTCCTACCAATTTCTCCCCCATCGTCAACCACGTGGCCCGGTTTGCGGCCCAGGCCACACAACAGCGGACGGCCACG___CAGTACTTCATCCTCCTCATCATCACGGACGGGGTCATCAGTGACATGGAGGAGACACGGCATGCCGTGGTGCAGGCTTCCAAGCTGCCCATGTCCATCATCATCGTGGGCGTGGGCAATGCGGACTTCGCTGCCATGGAGTTCCTGGATGGGGACAGCCGCATGCTGCGCTCCCACACGGGGGAGGAGGCAGCCCGCGATATTGTGCAGTTCGTTCCCTTTCGAGAGTTCCGCAAC___GCAGCAAAAGAGACCTTGGCCAAAGCTGTGCTGGCGGAGCTGCCCCAACAAGTTGTGCAGTATTTCAAGCATAAAAACCTGCCCCCCACCAACTCGGAGCCCGCCTGAGCTCCAGTGCCCAGCAGCAGCATGTCAGCTGAGCCTCCTGCCCTCCCCCAGGAACATGCACGCTCACTCTGCTTCCTTGTGGGTGGCCTTTTTTTACCGATCCCCTTTTTTATTTTTTACAACCGGACCTCCACCCCCAACTTCCTCCAGCCCAGCTGGGCTTCCTTTGTTGGAGTCAACTGTTGATGCTTCCAGGCCAAACTGGCTTCCTCTCCTCCTCTCCCCACCTTTGCCATTCTTAAGTATTGAATGTACTTTGTATAATTTTAGTGGAATTGTTATTGAGAATAAAATTTTTACAATCATAACTGGCTTTTTCCAAGTAACTAGCTGCAGACTCTGATGAAAGAAACATGTCCTTGGTGCATACGTGTCGTAGCCTGCACCTAATTAATTCCTGCTGTTTTTTTAATACTGTGACTGTGTTCTATTTGTTATATGCTCAGGGTAACAAATGAGTTTCAGACGTCCCTGCGTCAGCTCCTTCCTCAGCAGGGACCTGACGGGCTCACTGATCTAAGAAAGGAAATGGAAAATGAAAATCCACCCCACAAGTCTAATAAGTTGGTGTAGTCACTTCTGCATGGGGACATGCATTCCAGATGATAACCTGTTAAATCACTGCCAGTTAACAGTGATAACCTGTTAAACTGGCACAGAACCTGGCACATTGTACAAACTCAATAAATATTCATGGATGAATAGAATGAA)$ MRPRSGGRPGATGRRRRRLRRRPRGLRCSRLPPPPPLPLLLGLLLAAAGPGAARAKETAFVEVVLFESSPSGDYTTYTTGLTGRFSRAGATLSAEGEIVQMHPLGLCNNNDEEDLYEYGWVGVVKLEQPELDPKPCLTVLGKAKRAVQRGATAVIFDVSENPEAIDQLNQGSEDPLKRPVVYVKGADAIKLMNIVNKQKVARARIQHRPPRQPTEYFDMGIFLAFFVVVSLVCLILLVKIKLKQRRSQ|YDRTETAINNLNPAFSKKFVLDYHFEEVQKLKFALFDQDKSSMRLDEHDFLGQFSCSLGTIVSSKKITRPLLLLNDKPAGKGLITIAAQELSDNRVITLSLAGRRLDKKDLFGKSDPFLEFYKPGDDGKWMLVHRTEVIKYTLDPVWKPFTVPLVSLCDGDMEKPIQVMCYDYDNDGGHDFIGEFQTSVSQMCEARDSVPLEFECINPKKQRKKKNYKNSGIIILRSCKINRDYSFLDYILGGCQLMFTVGIDFTASNGNPLDPSSLHYINPMGTNEYLSAIWAVGQIIQDYDSDKMFPALGFGAQLPPDWKVSHEFAINFNPTNPFCSGVDGIAQAYSACLPHIRFYGPTNFSPIVNHVARFAAQATQQRTATQYFILLIITDGVISDMEETRHAVVQASKLPMSIIIVGVGNADFAAMEFLDGDSRMLRSHTGEEAARDIVQFVPFREFRNAAKETLAKAVLAELPQQVVQYFKHKNLPPTNSEPA* 11CO047 ENSG00000173275.13 ENSG00000196406.4(11909),ENSG00000165509.13(127668) +/+ ./- chrX:135349314 chrX:141710648 CDS/splice-site intergenic inversion 1 2 0 19 7 high out-of-frame . SCAN_domain(100%)| . . ENSG00000173275.13 . ENST00000339249.5 . downstream downstream . ^(AGTTGCCGGTGAGCTTGGGAGAACCGTGGGCGCTGAGGCG___CTGTAGGTGGCTCCCTCCCACCCCAACGATTTCAGAGAGAAACAAGTCGGAATCTGAGAAGTGAGGCTCCAGATAAACTGTAAACTGCTGGAAGGGGGCGATGGCTGTGGCCCTGGGTTGTGCAATCCAGGCATCCTTGAATCAAGGCTCTGTGTTTCAAGAATATGATACTGACTGTGAAGTTTTCCGTCAGCGCTTCAGGCAGTTCCAGTACAGAGAAGCAGCTGGGCCTCATGAAGCATTTAACAAACTCTGGGAGCTTTGCTGTCAATGGCTGAAGCCAAAGATGCGCTCTAAGGAACAAATCCTGGAGCTGCTAGTGTTGGAGCAATTCCTAACTATCCTGCCCACAGAGATAGAGACCTGGGTGAGGGAGCACTGCCCAGAGAATAGAGAAAGAGTTGTGTCACTGATAGAAGACTTACAGAGAGAA)CTTGAGATACCAGAGCAGCAG___GTTGATATGCATGACATGCTCTTGGAAGAACTGGCACCAGTGGGAACGGCACACATACCACCAACCATGCACCTAGAGTCACCTGCACTCCAGGTAATGGGACCTGCCCAGGAGGCCCCAGTAGCAGAGGCATGGATCCCACAGGCAGGGCCACCGGAGCTGAACTATGGTGCTACTGGAGAATGTCAGAACTTTCTGGACCCTG|CTAATATTGATCAAGCTCTGTACTAATCATGAATAATGTACAGAAGAAATGGCATATTTGCAGTCTTCCTAACCCACAGTTAAATGAGGAAACAAACACATAAATAATTCGTGAAAAAACATAAGATAAGCACTtgTCTACACATACATATGAGG MAVALGCAIQASLNQGSVFQEYDTDCEVFRQRFRQFQYREAAGPHEAFNKLWELCCQWLKPKMRSKEQILELLVLEQFLTILPTEIETWVREHCPENRERVVSLIEDLQRELEIPEQQVDMHDMLLEELAPVGTAHIPPTMHLESPALQVMGPAQEAPVAEAWIPQAGPPELNYGATGECQNFLDP|anidqaly* 11CO047 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 8 2 0 11 818 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAA)GCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAAT(CCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11CO047 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 2 4 0 22 7 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCA)GTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpss 11CO047 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 2 3 0 22 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACT)GTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACCTGG...___CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 11CO047 ENSG00000185650.10 ENSG00000264781.1(2658),ENSG00000211900.2(987) -/- ./+ chr14:68792882 chr14:105862211 CDS/splice-site intergenic inversion 0 4 0 643 120 medium out-of-frame . Tis11B_like_protein__N_terminus(100%)| . . ENSG00000185650.10 . ENST00000336440.3 . upstream upstream . ^(GTGTGTTGGGGGTGGTGAGAATGCGCTCTCTTCGGCCCGCCCCGTCCTTTCCAAAGAAACGTGCTCATAATGGGGTGACCTAATTACATCGCAATGGAACTCAATCTTAGCCACTCCGCAGCACCGGGTTTCATAACAGACTCGGCGGCCTCGAGTGCTGGGAAGAAACGTGCGAGGGCCGAGGGGGGCGGCGGAGCCCGCGTGGAAATCGGAAAGAAGCGCAGCCCTGCGACTTCCGCCTGGGTCATCACGCCAGCAGTCGGGCCAAGGCGCAGGGGGCGGGTGGGGGACTCGTTAACTTTTTATTTGGGTGGGCGGCATCCAAACCTAACAGTATATATTTTATCATTTTCAAGGGAGTCATGCTCCATTGCGGGCCCTTCGGTTTCGTGGCTCCCATGTCCCCCTCTCCACCTCCCGCCAAAACGGCGCAGCGTGACAAGCCATATGTTCCACTCCGGTGGGGGCGAGAGAGAAGCAACAATAAGTTAAAAGTGCCGCCTCCCTCCACCTCTTTACCTTCATTCTTACCAAAGTAACCTTTTTTCATTGTTCTAGAGTCTTGAGGTGTGTGTGGGGAGGATGGAGGAGGAGGGAGGGTTGTGGCGCCGCCCAGAATTCGGAGCGCGCGTGGAAAGTAGTGAGTTGCTCGGTGGGCTTTTTCTGGGAGGAAGGGGCATTCAGGAAGGATTAGGGTTTTCTTGACTAAAAAGTTTAAAGATTGGATGCGTGAAAAGAAACGGCACGCCTAGGCCTGGTAAAACAAACAATCGTCCCGGGTTGTGGTCTTTTTTTGCGGCGCCCCCCACCCGCCCACACCCGGAGAGCGCCGGCTGCAAAGCGAGCGCGAGTGTCGACGCGTGCGGCGCACTAAATTGTGCCGCGCTCGCCCCCGCCAGACCATGTCCTCCTGGGGAAAAAGTTTCCCTAGTCCCCCCAGCAGCGCGCCCCACCCTACGCCCCGCTGGAAAAAAAACAGCAACATAAAATCCTAGGCTTGAACATTCTGTGCGTCCCAAATTTCTAATGTCCTCGGCCTGCCCGGTTTGCCGAAGGGAGCCGAGTGTCGAAGAGAAGTCGGGAAAAGGTAAGTTGTGCAGACACTTGGGGAAGTTTCAAGGAGACCGCCAGCTCAAGATGGAAACCGCGGCCCGGGCGCTAAGGACGGGCTTCAGCTCCCGCTGGCAAAAAGAGAAAGTCGAGCCCGCCTTCCTGCCCAACAAAAAACAACAACATGACAACAAGAACCCCGGAGGGAGTGGAATGAGTGACGTCACAGCCGCGCTCTGAGGCTGACAAAGGAGGGGGCGCGCCCCTCCCGCTCTGCGCCCGCGCGGCCCCGGAGAGGGGGCGCCTGAAGCGCCGGGTAGGGAAGTCAGCCGACTTGAAACTTTTCCTCTTAAAGAAAAAAAAAAAAAAGTTGTGCGCGGCTCACAGTGGGGTTTTTTTTTTCCGCCTTCTTTTCTCGTCTCCCCTCCCCCTTCTTCCTTTTGAAAGTTTCTTCTCCTCCCCCTGCCCCCCCTCCCCGCCTGACCGCATGGCTGATTCAACTCCAGTGTCAATCAACTTCTTTTTCCTCCTCTTCCTCATTTAAATAAGTTTAAAGCTCCTCCTCCCCCCGGCCCACCAAATCTGAACTTTATAAATTGGGCTTTGCGCGCCCCAGCCCGGAGTCAGAAAGGCGAGGGGCGCCGGGAACTGGCGTGTGGGACTCCAGACAGGAGAGGCTGCGCCTTCCCCGCACCGGGACCTTCGCGACACACCAGATCCTCGCCCCTGGCTCGCGCGAACGCACAGGATGA)CCACCACCCTCGTGTCTGCCACCATCT?CGACTTGAGCGAAGTTTTATGCAAG|ACTCTCGCGGTGACCTGCTTCCTGCCACCTGCTGTGGGTGCCGGAGACCCCCATGCAGCCATCTTGACTCTAATTCATCATCTGCTTCCAGCTTCGCTC MTTTLVSATI?DLSEVLCK|tlavtcflppavgagdphaailtlihhllpas 11CO047 ENSG00000239407.5 ENSG00000173588.15 +/+ -/- chrX:102901771 chr12:94335664 exon/splice-site CDS/splice-site translocation 0 3 0 17 32 medium . . . . . ENSG00000239407.5 ENSG00000173588.15 ENST00000426528.5 ENST00000397809.10 downstream downstream . ^(AGCTTCTACTCAAGATTTGAAGGGCAGCTGTCCTCAGGAGACCCCTGGCACTTCCCTCCATGGTGGGATGTGATGCCTGATTCCAGTGAGTTCATAGAGCTGAACAAAA___GGAGGCAGCAGATGGCTGAAATTCTGATCCGATGTGGCTGGTTAATGCATGATCTGAAAACCCCTGCACTGGTGATTTTGGGACAGATCTAGAATATACCAATAAATATATTAACATACCAAGTAGTCTAGGAGCAGCCACTGGGCGAACACCAAACCTTGCATCCCTGCTGCTGTCTCTGAGCTCAGCAG___ACACGTCTTTGCAGAAGAGTTCTATAATGGTGGTACAATGGTGCCCCCTCGTGACAGAAGCTTGAACTACAGCTTGAACATCG___AGATGAAAATATACTGTCTACGTTGTTCAACACAATAGCTAATGGCAACTGTGGCAGTTGAACACCCGAAACGTGATGAATGTGACTGAGGAACTGAACTTTTAGTTTCAT___TGTGACATGATGAATGAATTTATTGAGCCCCAGGAAGAAGGAAAATTAA)AGAAGAGCAAAGAATAATAGCTGGACAGAAGATGGGGGTCATTGAACCTATATCCTAGTTGCCAGACCAGTAAACTGACCATGGGACCTGGG|GTTAAAACTTCAGCAACAAATTGTGACTATTGAAAATGCAGAGAAGGAAAAAAATGAAAATTCTGACCTAAAACAG___CAAATCAGTAGTTTGCAGATCCAAGTGACTTCACTTGCACAGTCAGAGAATGACTTGCTGAATTCAAACCAAATGCTGAAGGAAATGGTGGAGAGATTAAAACAAGAATGCCG(AAATTTTAGAAGCCAAGCTGAAAAAGCGCAACTAGAAGCTGAAAA___GACATTGGAAGAGAAACAGATACAGTGGTTGGAAGAAAAGCATAAGCTTCATGAGCGTATCACAGACAGAGAAGAAAAGTACAATCAAGCTAAGGAGAAACTGCAGCGAGCTGCAATTGCCCAGAAAAAG___AGAAAATCTCTTCATGAAAACAAATTGAAAAGACTACAAGAGAAAGTAGAAGTCTTGGAGGCAAAGAAAGAAGAATTGGAAACAGAAAATCAGGTCTTAAATAG___ACAAAATGTTCCTTTTGAAGACTATACAAGGCTTCAAAAAAGACTAAAAGATATACAGAGAAGACATAATGAATTTCGAAGTCTAATTTTGGTTCCTAACATGCCTCCAACAGCATCTATCAATCCTGTTAGCTTTCAGTCATCAGCCATGGTTCCAAGCATGGAACTACCATTTCCTCCTCATATGCAG___GAGGAACAACATCAAAGGGAACTCTCTCTACTTCGCAAAAGACTAGAAGAACTGGAAACAACACAAAGAAAACAACTAGAGGAACTTGGATCTTCCGGAGAATGATGTTCTTGGAGAACAGGCAGATCAAAAGAGGTGAAGTTGGTGACTCAGTAAAACTTGACATTTTAACCTGTGGCATTTAGATACTTTTTACTGTTTGCCAAAACACTTGAATGTGCCTCAAGAAAAGGTACCTACTACATGCTGTATTGTATGACTGTCAGGATTTTAAGATTATACAAGTGAAGCATTAAAAGAGAAATTCTCAGAGATATTTAGAATATTTGACAATGGTTTGAGAATGTAAAACAAAAAGGAACTAGTTAGAGTCAAGTTTTAAAATTTTTACTTTGTTGAATTTTTTTTTTTGGCATTTTGAGTGAAATATAACTATCATTAATTCTCTCTTCATCTTTGAGATGCTTGGCCATAACAGGGTCCATACACATCTTCTGGTTTACTATATACAAAAACTGTAGTTGAAAAAAGATGACAATTTAAAAGTCAGCCTAAAGAATGTAAAGGTATCTATATACAAAAGGCTACCTTTTCTAAAATCTGTGTGCACATAATTAAAGAGCTTAATTTTTTTTTAATCGTGTGTTTAATTTTACATCAACCATATAGCATATATTTAGCAATATGACAGTCTACTGATTTTGGCTTTGTTAGAATAGAGAATAAGTGCAAATAATTAAATCCTATGGCTGTATTAACAAGGGGGCCATTGATTATAAAACTTGAACTCAGGTCCTTTTATAAACATTGTTGGTATTTAACTTTACTTCCCATTACTGTGGATCTAACCAAATAATTATGTGTTTTGTGTCCCTAAGTATGCTCTCATTTTTTTTGGTCTACACCCATTGGAAGCCTTTTTAATGTGACATCTTTTAGAGGAATTCTGCTGGAATAATTTCATGTTAACGAGGCTAAAGCTCAAGTCTCCCAAATTAAGTGGAATGTTCATTATCCCAAGGTGTTCATAGTCAAAAGTCCCAGTTGATAGTGAAGAAGGCCAGGACTGTAATTGAGCAGTCCTTAGCACCATTTAGCAAACTAGGTTTACTTACTACATAATATAGCTGCTTATTCACAGCATATACAGTGACACCTTATCTCTGAAAAATAATTTCCACGGAGCCACTTAGAATAAAAAAACTATTATAACTAGAAAA)$ . 11CO048 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 32 0 65 147 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),mismappers(3),mismatches(3) CCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGG(ATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO048 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 14 0 39 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(2),mismatches(2) GGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGC(CTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO048 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 18 14 0 29 47 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(2) CGGGAGGCCGAGGCCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGG(AAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO048 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 10 6 1 31 19 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream mismatches(1) CCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGG(AAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO048 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 10 4 0 16 29 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream . CGGCGGCTGCAGGGCGCTCCGGCAGCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGC(CATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 11CO048 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 17 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000378605.3 upstream downstream duplicates(1) CAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAG(AGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATGGTATGGTTGTCAACAAACATTCAGAAGGCTCTCATGGGG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___AGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___TGGTCTGATGAAGGACTGCAAACCACAGCTCTTGTGTTTTTTGCACCATGGGTTTTAAAATCCGTCCTCTGCCTCCCACAAGGAGCTACTACCCAAGGGAAGGGAGAAGATTAATTGGTGACCTTTCGCCGTGTTAAAATAGGATGAGTATGTTGCTGGTCAAGGCAGAAACGCTAACTTCCAACTGTGGTCTGTTAAGAGATCTGCTGGGAACCTTCAGAAGCACTGCCTTCCAAGGCGGGGCCACAGCTTGGGGTGTTCAGCACTTGAGGACGGGTGGAGCTTGTTCAACCCAAAGATGTGTGCGATGAACGGATCTACACACTGGAAATACGTATCAAAACTGCAACAGCAAAATCATATTTTGTAAATTAAAATTGTGTTTACTTACTGTGA)$ . 11CO048 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 17 34 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(1),inconsistently_clipped(1) GGCTCCCCGGCGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAG(TCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11CO048 ENSG00000220205.9 ENSG00000241322.11 -/- -/+ chr17:8161473 chr17:15597488 CDS/splice-site intron inversion/5'-5' 7 4 0 171 10 high out-of-frame . Synaptobrevin(100%)| . . ENSG00000220205.9 ENSG00000241322.11 ENST00000316509.11 . upstream upstream duplicates(1) ^(AGTCGGAGCCAGCGCGAGCCGCCGCCGCCATCACTGCCGCTGCCAAGTCCTCCACCCGCTGCCCCCGCCAT___GTCTGCTACCGCTGCCACGGCCCCCCCTGCTGCCCCGGCTGGGGAGGGTGGTCCCCCTGCACCCCCTCCAAACCTCACCAGTAA)CAGGAGACTGCAGCAGACCCAGGCCCAGGTGGATGAG___GTGGTGGACATCATGAGGGTGAACGTGGACAAGGTCCTGGAGCGAGACCAGAAGCTGTCGGAGCTGGACGACCGTGCAGATGCACTCCAGGCGGGGGCCTCCCAGTTTGAAACAAGCGCAGCCAAGCTCAAGCGCAAATACTGGTGGAAAAACCTCAAG___ATGATGATCATCTTGGGAGTGATTTGCGCCATCATCCTCATCATCATCATAG|CTGGGCGTGGTGGCGTGCAACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGCCACAGAGCAAGACTC MSATAATAPPAAPAGEGGPPAPPPNLTSNRRLQQTQAQVDEVVDIMRVNVDKVLERDQKLSELDDRADALQAGASQFETSAAKLKRKYWWKNLKMMIILGVICAIILIIII|agrggvql* 11CO048 ENSG00000220205.9 ENSG00000251537.4 -/- -/+ chr17:8161473 chr17:15597488 CDS/splice-site intron inversion/5'-5' 7 4 0 171 10 high out-of-frame . Synaptobrevin(100%)| . . ENSG00000220205.9 ENSG00000251537.4 ENST00000316509.11 . upstream upstream duplicates(1) ^(AGTCGGAGCCAGCGCGAGCCGCCGCCGCCATCACTGCCGCTGCCAAGTCCTCCACCCGCTGCCCCCGCCAT___GTCTGCTACCGCTGCCACGGCCCCCCCTGCTGCCCCGGCTGGGGAGGGTGGTCCCCCTGCACCCCCTCCAAACCTCACCAGTAA)CAGGAGACTGCAGCAGACCCAGGCCCAGGTGGATGAG___GTGGTGGACATCATGAGGGTGAACGTGGACAAGGTCCTGGAGCGAGACCAGAAGCTGTCGGAGCTGGACGACCGTGCAGATGCACTCCAGGCGGGGGCCTCCCAGTTTGAAACAAGCGCAGCCAAGCTCAAGCGCAAATACTGGTGGAAAAACCTCAAG___ATGATGATCATCTTGGGAGTGATTTGCGCCATCATCCTCATCATCATCATAG|CTGGGCGTGGTGGCGTGCAACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGCCACAGAGCAAGACTC MSATAATAPPAAPAGEGGPPAPPPNLTSNRRLQQTQAQVDEVVDIMRVNVDKVLERDQKLSELDDRADALQAGASQFETSAAKLKRKYWWKNLKMMIILGVICAIILIIII|agrggvql* 11CO048 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 8 3 0 16 16 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),mismatches(1) GTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAG(TGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO048 ENSG00000263620.1 ENSG00000241322.11 -/- -/+ chr17:8161473 chr17:15597488 CDS/splice-site intron inversion/5'-5' 7 4 0 171 10 high out-of-frame . . . . ENSG00000263620.1 ENSG00000241322.11 ENST00000498285.1 . upstream upstream duplicates(1) ^(ATCTTTCCGTCCCGGGCAGCCAGCGCCAGTCGGAGCCAGCGCGAGCCGCCGCCGCCATCACTGCCGCTGCCAAGTCCTCCACCCGCTGCCCCCGCCAT___GTCTGCTACCGCTGCCACGGCCCCCCCTGCTGCCCCGGCTGGGGAGGGTGGTCCCCCTGCACCCCCTCCAAACCTCACCAGTAA)CAGGAGACTGCAGCAGACCCAGGCCCAGGTGGATGAG___GTGGTGGACATCATGAGGGTGAACGTGGACAAGGTCCTGGAGCGAGACCAGAAGCTGTCGGAGCTGGACGACCGTGCAGATGCACTCCAGGCGGGGGCCTCCCAGTTTGAAACAAGCGCAGCCAAGCTCAAGCGCAAATACTGGTGGAAAAACCTCAAG___ATGATGATCATCTTGGGAGTGATTTGCGCCATCATCCTCATCATCATCATAG|CTGGGCGTGGTGGCGTGCAACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGCCACAGAGCAAGACTC MSATAATAPPAAPAGEGGPPAPPPNLTSNRRLQQTQAQVDEVVDIMRVNVDKVLERDQKLSELDDRADALQAGASQFETSAAKLKRKYWWKNLKMMIILGVICAIILIIII|agrggvql* 11CO048 ENSG00000263620.1 ENSG00000251537.4 -/- -/+ chr17:8161473 chr17:15597488 CDS/splice-site intron inversion/5'-5' 7 4 0 171 10 high out-of-frame . . . . ENSG00000263620.1 ENSG00000251537.4 ENST00000498285.1 . upstream upstream duplicates(1) ^(ATCTTTCCGTCCCGGGCAGCCAGCGCCAGTCGGAGCCAGCGCGAGCCGCCGCCGCCATCACTGCCGCTGCCAAGTCCTCCACCCGCTGCCCCCGCCAT___GTCTGCTACCGCTGCCACGGCCCCCCCTGCTGCCCCGGCTGGGGAGGGTGGTCCCCCTGCACCCCCTCCAAACCTCACCAGTAA)CAGGAGACTGCAGCAGACCCAGGCCCAGGTGGATGAG___GTGGTGGACATCATGAGGGTGAACGTGGACAAGGTCCTGGAGCGAGACCAGAAGCTGTCGGAGCTGGACGACCGTGCAGATGCACTCCAGGCGGGGGCCTCCCAGTTTGAAACAAGCGCAGCCAAGCTCAAGCGCAAATACTGGTGGAAAAACCTCAAG___ATGATGATCATCTTGGGAGTGATTTGCGCCATCATCCTCATCATCATCATAG|CTGGGCGTGGTGGCGTGCAACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGCCACAGAGCAAGACTC MSATAATAPPAAPAGEGGPPAPPPNLTSNRRLQQTQAQVDEVVDIMRVNVDKVLERDQKLSELDDRADALQAGASQFETSAAKLKRKYWWKNLKMMIILGVICAIILIIII|agrggvql* 11CO048 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127794734 chr8:127398893 exon/splice-site exon/splice-site duplication 4 3 0 19 18 high . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000651587.1 ENST00000646670.1 downstream upstream duplicates(2) ^(AGAGCGCGTGTGGC)GGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|ATTTCTGTTCAGAAAACACATCTTCAGGAAAATCACCCCTGACTCACCCAGGCTAAGTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAAT . 11CO048 ENSG00000155313.15 ENSG00000232884.9 +/+ -/- chr21:15766141 chr21:14677080 CDS/splice-site exon/splice-site inversion 1 3 0 65 8 high out-of-frame . . . . ENSG00000155313.15 ENSG00000232884.9 ENST00000400183.6 ENST00000673788.1 downstream downstream . ^(AAGCAGCCCGCGGACCGGCAGCAAAGGAACGTGCGAACGCGTGACGCCGCCCGACTGGCTCGCGCTCTCCCGTGCCCCGGCGTCCTCCGCCCGCTCATGGCCCGGGCCGCCGCGGACGAGCGGCGCTGAGGCGGGCCGCGTGGAGACGTGAGGCGGCCGCCGTGGCCCTCACAGTCGGCGTTTCGCCGCCTGCCCGCGGTGCCCGCGCACGCCGGCCGCCATCGCCTTCGCGCCTGGCTGGCGGGGGCGCTGTCCTCCCAGGCCGTCCGCGCCGCTCCCTGGAGCTCGGCGGAGCGCGGCAGCCAGGGCCGGCGGAGGCGCGAGGAGCCGGGCGCCACCGCCGCCGCCGCCGCCGCCGCCGCGGGGGCCATGACCGTGGAGCAGAACGTGCTGCAGCAGAGCGCGGCGCAGAAG___CAC)CAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAG___GATAGTAATGGAAACTTGGAATTAGCAGTGGCTTTCCTTACTGCGAAGAATGCTAAGACCCCTCAGCAGGAGGAGACAACTTACTACCAAACAGCACTTCCTGGCAATGATAGATACATCAGTGTGGGAAGCCAAGCAGATACAA|GCATTCCTGTAAACTTATATTCATGAAGAAAGTCAGAGTACTTGTTGCAGATGCAATGCTAGGTCTTCAGCCATGTGCTATAGAAACAGAAGGTGACAAATATAACCAAGGATTGGGAGGAGAAAAAGAAGAAAGCCAATTTGGGAAATGAGAC(TGTAAAGTTTATAATGCTACTGATTTTCAAACATTTTCAGAAGCAATGGAAAGAAGAATGCGAAGAAAATGAGTTTATTTTCCAAAATGCTTTTTTTGTTATTGTTTTGCAATTTCCCTTTGTTAACATCATATAGGTTATGGGGGTTTCTGTTTTGAAAAAAATAAATACTGCACCGTGTGTGGATTGCTACTCAGCACTCAGCAATAAACAAGTCAATGAATGCTCT)$ MTVEQNVLQQSAAQKHQQTFLNQLREITGINDTQILQQALKDSNGNLELAVAFLTAKNAKTPQQEETTYYQTALPGNDRYISVGSQADT|sipvnlys* 11CO048 ENSG00000083123.15 ENSG00000035681.9(16743),ENSG00000198846.6(128816) +/+ ./- chr6:80127624 chr8:58676596 CDS/splice-site intergenic translocation 1 2 0 37 7 high out-of-frame . Transketolase__pyrimidine_binding_domain(100%)| . . ENSG00000083123.15 . ENST00000356489.9 . downstream downstream . ^(AGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCG)GCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACG___GGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAG|GAGCGTCTCTGCCAGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCTGTCTGAGAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCATCTGGG...ACCCCGTCTGGGAGGTGTACCCAACAGCGCATTGAGAACGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCATGTCTGTGTAGAAAGAGGTAGACCcGGGAG MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTA|gaslpgrpv* 11CO048 ENSG00000144579.7 ENSG00000232133.1 +/+ -/- chr2:218403417 chr2:201138993 CDS/splice-site exon inversion 1 2 0 217 19 high out-of-frame . . . . ENSG00000144579.7 ENSG00000232133.1 ENST00000443891.5 ENST00000440965.1 downstream downstream . ^(TGAGATTAGGGGGCGCAGCCAGAGCAGGCCTAGGAAAACGCCAGCAGCGTGTGGCGATCACGGTGATGAAGCGCAATGGTGGCCGCCCCGTGGGCTACCCAGGAGCAGGAGGAGGGCCGAGGGATCCAGCCCGGGGACCGGG___GTGACCAGAAGTCAGCAGCTTCCCAGAAGCCCCGAAGCCGGGGCATCCTCCACTCACTCTTCTGCTGTGTCTGCCGGGATGATGGGGAGGCCCTGCCTGCTCACAGCGGGGCGCCCCTGCTTGTGGAGGAGAATGGCGCCATCCCTAAG___ACCCCAGTCCAATACCTGCTCCCTGAGGCCAAGGCCCAGGACTCAGACAAGATCTGCGTGGTCATCGACCTGGACGAGACCCTGGTGCACAGCTCCTTCAAG___CCAGTGAACAACGCGGACTTCATCATCCCTGTGGAGATTGATGGGGTGGTCCACCAG___GTCTACGTGTTGAAGCGTCCTCACGTGGATGAGTTCCTGCAGCGAATGGGCGAGCTCTTTGAATGTGTGCTGTTCACTGCTAGCCTCGCCAAG___TACGCAGACCCAGTAGCTGACCTGCTGGACAAATGGGGGGCCTTCCGGGCCCGGCTGTTTCGAGAGTCCTGCGTCTTCCACC)GGGGGAACTACGTGAAGGACCTGAGCCGGTTGGGTCGAGACCTGCGGCGGGTGCTCATCCTGGACAATTCACCTGCCTCCTATGTCTTCCATCCAGACAATGCT|CAGCTCTTCGCCAGTGACCAGGGACTCACCTACAACGACTTCTTGATTCTCCCAGGATTCATAGACTTCATAGCTGATGAGGTGGACCTGACCTCAGCCCTGACCCAATGGTCACTCTGAAGACGCCGCTGATCTCCTCCCCCATGGACACTGTGACAGAGGCCGACCTGGCCATCGTGATGGCTCTGATGGGAGGTACTGGTTTCATTCACCACAACTGCACCCCAGAGTTtCAGGCCAGTGAGGTGCAGAAGGTCAAGAAGTTTGAACCGGGCTTTATCACACACCCCGTGGTGCTGAGCCCC(TTGCACACTGTGGGTGATGTGTTGGAGGCCAAGATGCGTCATGGCTTCTCTGGCATCCCCATCACTGAGACGGGTACCATGGGCAGCAAGCTGGTGGGCATCGTCACCTCCCGAGACATCGACTTTCTTGCTGAGAAGGACCACACCACCCTCCTCAGTGAGGTGATGATGCCAAGGATCAAGCTAGTGGTGGCTCCAGCAGTGTGAGGTTGAAAGAGGCAAATGAGATCCTGCAGCTTAGTAAGAAAGGAAGCTGCCTATCGTCAATGATCGCGATGAGCTGGTGGCCATTATCACCTGCACCGCGCTGAAGAACCGAGACTACCCTGTGGCCTCCAAGGATTCCCATGAGCAGCTGCTGGGCGGGGCAGCTGTGGGTACCCATGAGGATGACAAATACCACCTGGACCTGCTCACCCAGGTAGGCGTCAATGTCATAGGCTTGGACTCGTCCCAAGGGAACTCGGTGTATCAGATCGCCATGGTGCATTACATCAAACAAAAGTAACCCCACCTCCAGGTGATTGGGGGGAACGTGGTGACAGCAGCCCAGGCCAACAACCTGATTGACGCTGGTGTGGATGGGCTGGGCAGGGGCATGGACTGCGCGGCTCCATCTACATCAACCAGGAAGTGATAGCCTGCAGTCAGCCCCAGGGCACTGCTGTGTACAAGGTGGCCAAGCATACCCAGAACTTTGGTGTGCCCATCATAGCCGATGGTGGCATCCAGACCATGGGGCATGTGGTCAAGGCCCTGGCCCTAGGAGCCTCCACAGTGATGATGGGCTCCCTGCTGGCCGCCACCATGGAGGCCCCCGGCGAGTGCTTCTTCTCAGACGGAATGCAGCTCAAGAAGTACCAGGGCATGGGCTCACTGGATGCCATGGAGAAGAGCAGCAGCAGCCAGAAACAATACTTCAACGACGGGGATAAGGCGAAGATCACGCAGGATGTCTTGGGCTCCATCCAGGACAAAGGGTCCATTCAGAAGTTCGTGCCCTACCTCATAGTGGGCATCCAGCATGGCTGCCAGGATATCGGGGCCCACAGCCTGTCTGTCCTTCGGTCCATGATGTACTCAGGGGAGCTCAAGTTTGAGAAGCAGACCATGTCAGCCCAGATCGACGGTGGCATCCATGGCCTGCACTCTTACGAGAAGTGGCTGTACTGA)$ MVAAPWATQEQEEGRGIQPGDRGDQKSAASQKPRSRGILHSLFCCVCRDDGEALPAHSGAPLLVEENGAIPKTPVQYLLPEAKAQDSDKICVVIDLDETLVHSSFKPVNNADFIIPVEIDGVVHQVYVLKRPHVDEFLQRMGELFECVLFTASLAKYADPVADLLDKWGAFRARLFRESCVFHRGNYVKDLSRLGRDLRRVLILDNSPASYVFHPDNA|qlfasdqgltyndflilpgfidfiadevdltsaltqwsl* 11CO048 ENSG00000144579.7 ENSG00000003402.20 +/+ +/- chr2:218403417 chr2:201138993 CDS/splice-site 3'UTR inversion/3'-3' 1 2 0 217 19 high out-of-frame . . . . ENSG00000144579.7 ENSG00000003402.20 ENST00000443891.5 . downstream downstream . ^(TGAGATTAGGGGGCGCAGCCAGAGCAGGCCTAGGAAAACGCCAGCAGCGTGTGGCGATCACGGTGATGAAGCGCAATGGTGGCCGCCCCGTGGGCTACCCAGGAGCAGGAGGAGGGCCGAGGGATCCAGCCCGGGGACCGGG___GTGACCAGAAGTCAGCAGCTTCCCAGAAGCCCCGAAGCCGGGGCATCCTCCACTCACTCTTCTGCTGTGTCTGCCGGGATGATGGGGAGGCCCTGCCTGCTCACAGCGGGGCGCCCCTGCTTGTGGAGGAGAATGGCGCCATCCCTAAG___ACCCCAGTCCAATACCTGCTCCCTGAGGCCAAGGCCCAGGACTCAGACAAGATCTGCGTGGTCATCGACCTGGACGAGACCCTGGTGCACAGCTCCTTCAAG___CCAGTGAACAACGCGGACTTCATCATCCCTGTGGAGATTGATGGGGTGGTCCACCAG___GTCTACGTGTTGAAGCGTCCTCACGTGGATGAGTTCCTGCAGCGAATGGGCGAGCTCTTTGAATGTGTGCTGTTCACTGCTAGCCTCGCCAAG___TACGCAGACCCAGTAGCTGACCTGCTGGACAAATGGGGGGCCTTCCGGGCCCGGCTGTTTCGAGAGTCCTGCGTCTTCCACC)GGGGGAACTACGTGAAGGACCTGAGCCGGTTGGGTCGAGACCTGCGGCGGGTGCTCATCCTGGACAATTCACCTGCCTCCTATGTCTTCCATCCAGACAATGCT|CAGCTCTTCGCCAGTGACCAGGGACTCACCTACAACGACTTCTTGATTCTCCCAGGATTCATAGACTTCATAGCTGATGAGGTGGACCTGACCTCAGCCCTGACCCAATGGTCACTCTGAAGACGCCGCTGATCTCCTCCCCCATGGACACTGTGACAGAGGCCGACCTGGCCATCGTGATGGCTCTGATGGGAGGTACTGGTTTCATTCACCACAACTGCACCCCAGAGTTtCAGGCCAGTGAGGTGCAGAAGGTCAAGAAGTTTGAACCGGGCTTTATCACACACCCCGTGGTGCTGAGCCCC MVAAPWATQEQEEGRGIQPGDRGDQKSAASQKPRSRGILHSLFCCVCRDDGEALPAHSGAPLLVEENGAIPKTPVQYLLPEAKAQDSDKICVVIDLDETLVHSSFKPVNNADFIIPVEIDGVVHQVYVLKRPHVDEFLQRMGELFECVLFTASLAKYADPVADLLDKWGAFRARLFRESCVFHRGNYVKDLSRLGRDLRRVLILDNSPASYVFHPDNA|qlfasdqgltyndflilpgfidfiadevdltsaltqwsl* 11CO048 ENSG00000065615.14 ENSG00000185760.15 +/+ +/+ chr6:83909090 chr6:73120483 CDS/splice-site CDS/splice-site duplication 0 1 1 90 6 high out-of-frame . Cytochrome_b5-like_Heme/Steroid_binding_domain(100%)|KCNQ_voltage-gated_potassium_channel(100%) . . ENSG00000065615.14 ENSG00000185760.15 ENST00000369681.10 ENST00000342056.6 downstream upstream . ^(GGGCTTGGCCTCTGCCCGGCCACAGAGCCGGAGCTGGAGGTGCTGTCCCGTCTGGCGGCGATCCCCGGGCAGGGCCCGGGGCCGGGGTTTGAAGATGCTGAACGTCCCTTCCCAGTCTTTCCCGGCCCCCAGGTCGCAGCAGCGTGTCGCCTCCGGGGGGCGTAGCAAG___GTACCTTTAAAACAGGGCAGAAGCCTTATGGATTGGATTCGACTGACCAAAAGTGGAAAGGATCTAACGGGATTAAAAGGCAGGTTAATTGAAGTAACTGAAGAAGAACTTAAGAAACACAACAAAAAAGATGATTGTTGGATATGCATAAGAG___GTTTCGTTTATAATGTCAGCCCTTATATGGAGT)ATCATCCTGGTGGAGAAGATGAACTAATGAGAGCAGCAGGATCAGATGGTACTGAACTTTTTGATCAG___GTTCATCGTTGGGTCAATTATGAATCCATGCTGAAAGAATGCCTGGTTGGCAGAATGGCCATTAAACCTGCTGTTCTGAAAG|TGTGTTTGGCGTAGTTACGCAGCTGATGAGAAATCTGTTTCCATTGCAACCTGGAAGCCACACTTGAAGGCCTTGCACACCTGCAGCCCTACCAA___CTGACACAGCCCTTGGCACTGATGATGTATATGATGAAAAAGGATGCCAGTGTGATGTATCAGTGGAAGACCTCACCCC(ACCACTTAAAACTGTCATTCGAGCTATCAG___AATTATGAAATTTCATGTTGCAAAACGGAAGTTTAAGGAAACATTACGTCCATATGATGTAAAAGATGTCATTGAACAATATTCTGCTGGTCATCTGGACATGTTGTGTAGAATTAAAAGCCTTCAAACACG___TGTTGATCAAATTCTTGGAAAAGGGCAAATCACATCAGATAAGAAGAGCCGAGAGAAAATAACAGCAGAACATGAGACCACAGACGATCTCAGTATGCTCGGTCGGGTGGTCAAGGTTGAAAAACAG___GTACAGTCCATAGAATCCAAGCTGGACTGCCTACTAGACATCTATCAACAGGTCCTTCGGAAAGGCTCTGCCTCAGCCCTCGCTTTGGCTTCATTCCAGATCCCACCTTTTGAATGTGAACAGACATCTGACTATCAAAGCCCTGTGGATAGCAAAGATCTTTCGGGTTCCGCACAAAACAGTGGCTGCTTATCCAGATCAACTAGTGCCAACATCTCGAGAGGCCTGCAGTTCATTCTGACGCCAAATGAGTTCAGTGCCCAGACTTTCTACGCGCTTAGCCCTACTATGCACAGTCAAGCAACACAGGTGCCAATTAGTCAAAGCGATGGCTCAGCAGTGGCAGCCACCAACACCATTGCAAACCAAATAAATACGGCACCCAAGCCAGCAGCCCCAACAACTTTACAGATCCCACCTCCTCTCCCAGCCATCAAGCATCTGCCCAGGCCAGAAACTCTGCACCCTAACCCTGCAGGCTTACAGGAAAGCATTTCTGACGTCACCACCTGCCTTGTTGCCTCCAAGGAAAATGTTCAGGTTGCACAGTCAAATCTCACCAAGGACCGTTCTATGAGGAAAAGCTTTGACATGGGAGGAGAAACTCTGTTGTCTGTCTGTCCCATGGTGCCGAAGGACTTGGGCAAATCTTTGTCTGTGCAAAACCTGATCAGGTCGACCGAGGAACTGAATATACAACTTTCAGGGAGTGAGTCAAGTGGCTCCAGAGGCAGCCAAGATTTTTACCCCAAATGGAGGGAATCCAAATTGTTTATAACTGATGAAGAGGTGGGTCCCGAAGAGACAGAGACAGACACTTTTGATGCCGCACCGCAGCCTGCCAGGGAAGCTGCCTTTGCATCAGACTCTCTAAGGACTGGAAGGTCACGATCATCTCAGAGCATTTGTAAGGCAGGAGAAAGTACAGATGCCCTCAGCTTGCCTCATGTCAAACTGAAATAAGTTCTTCATTTTCTTTCCAGGCATAGCAGTTCTTTAGCCATACATATCATTGCATGAACTATTTCGAAAGCCCTTCTAAAAAGTTGAAATTGCAAGAATCGGGAAGAACATGAAAGGCAGTTTATAAGCCCGTTACCTTTTAATTGCATGAAAATGCATGTTTAGGGATGGCTAAAATTCCAAGGTGCATCGACATTAACCCACTCATTTAGTAATGTACCTTGAGTTAAAAAGCCTGAGAAACCAAACACAGCTAATGCTATGGGGTGTATGAATATGTCAAGTTTAGGTCATTTAGAAGATTTGACACTGTATTTTGAAATTATGGGAGTAAACACCTTCAAATTTCAGGCATTTCTGCTTTGTGACTAAATACAAACTACATTTTCAAGATTAGGCCATAATGTATATTTAAACACAATGGCTATCAACAGCTGCTAATAAGGTATCAACTAAAGCAGAATTGGGGAATAATAGAAATGGCTGCTTATTTCAAGATATATTTGCCAACCCATTCCTATTCAGTCATTTTATTATTAATGTAATTTGAATGTCAATTTGTGTGCTTTTGGTGATTTAGCGCTGTGGCAAGCAATTTTGCACATCATTTTCATGTTGTTCTTTATGACAAGAATGTTCTTCAATTAGAAAATGTGCAAATAATGAAATTCAGGGCCAGTGAGGCAAATAGACTATCTGACATATTTGACTTTATGAAAACATATTGCCTGATGGCAGAATCAACTTTATAAGTGGTCAACTTCTACACAAGCGTATGAAATACTGGTCAGTAGAACAGCCATTGTGATTGGACTGGTTTCTCTGCAATGGCGCCAACCCCAGGCTTGCCAATACTGCCTATGTAAAGGGCAAGTGTGAGAAGCTATTCTCATTTCGCTGACATACAGGTAGGACTATGGGGGATGGGACATTTGAGTGGGACTGAGATAGGAAAGGCTTGAAAAGAACCCAGAAACACCACCAGGAAGTTGGCAAAGTAAAAGAAAATGACTTCCCCCTCAAAGGGCAATGAGAGGGAGAGAAACAAACCAAAATAGAAGAACTAGACTTTTTAGAAAATGAGTATTGCTAGGGAATTCAACTACCTAATCTTCCCTTATTCTTATATATAAGCAGAGAATTTTTGCAAGGTATTTATTTTTTAATATGCCCTGAATGTCTTTTGCTATTATGTGTACATTTTGCATATGAAAGTCTAAAACGAAACTTCCTTTACTTTTTATACTGTAGTGAAAATTTTCTATTCTTCCCAAGAATGTTGTCCCAAATCTGAAATTACTGGTTCAATTTCCTGATATAAACATTTACAATTAGAAGCTAGATAGTACTGGCAGAGTCTGCAAATCAGAACACTTAAATATATCATGGCAGCAAAAAGACCAAGGGAAACAAAATGACAAATGTATTTATCAGAAAGCAAGCAATGCTGACTGCTTGTTAGAAACCCATCTAGCTATCTTAGGTCACCAGAACTTCAGCCAACGTAATGACATTCAAAAAAAAAGGACATAAGAGATAGCATTTCAATTCAATTAAACCCTAGCCACAGGAGGACTCAAGAAAGGAAGTTGTTTCCTTGGCAGACATAAATGCTGCCTCCAGAAGTACTTCTCCAGCAGCCAAGCAGAATGAGCAGGGTTATCAAGTGGATGTTCAAAGGAAGAAGGAGGCCCTGAACTCCACCAATCCTCCCCAGCCCTCCCCAACAGGCTTTCTCCATCATTGACTCTCCCCTGCTTTTCTTCTTCATTAACTCCTTATTCATTCCCTGCCAGTATTTTGCTTCTGAACTTCACCAGGCCTTAACCAGCCTCCATCCCCAGGTCAACCAGTTCTCCGCTTTACCTAAAATGTGCTTCTCAACCTTTTAGAACCTTGTCCCTTTTGATAAACATGGAAATTTTTAAAGCTTCCTCTTCGCATCCCACTTGGATTCTAAGACAATTAGAATCATTTAGAATCTTTTTGGCTGCTGGAAATGTATAGAAGATAGAGGCTAAATTTTACACTTCAGTTAAGACATTGTCAATCCTTTTAAGCAATTGTTTTCATTTTCAAAATACAGAATGTTAGTAAATTATGAAAATCAATTTTTCATCTTCATTCAACCTGAAGTTGTGATTCCCCCTTGCAAGAATGTTGCATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCCCTCCACTGACCTAAAGCCAGACACCTGCCGTGACTGGGCAGGCTCTCTCCCATTATTAACAGAGGAAGAGGAGGGAGGCAGCAACTTTCAGGTAGCACTGATTCTTGGACATACTCTGTCCTGGGTCAAACCCCACTGGCAGCAGGAATTCTGAATGTATTGGGGACCCCTCCTTAGGCCTCGTTAAGTCTCAAACACAGTACAGCTCACCCAGCATTGCTGACGACTGAAGATTCAGAAACAAAACCTACACACAGCACTGAGGTCTTAATCATAGCAAAATGTGATAAACCATGTTGTGAAAAACTTTTATACATTGAAGCCATGACCATTTTGTGTCTATCTTACTCTAGCACAAAAATTGGGGGATGTTAAAAGATAGTTGTGTGGAAGCTATAAGGTTCTGTCTGTCGTGTTACTCTCTGTGGAAATGAGAGGGGTCTCCCATTTACACTAAGCAAATTTCCATTGGTCAATTTTAATGATGTCTTGAAGCACAATTTAGCTGAGCACTGAGTAGCCATATGCTTTCTGAGTACAAGTGTGTCTGCCTTCTTCAACATGTAGGGTTGATCAAGCTAATACTTAATTGCAAATATCCCTTGTATGAGGTTAACTAAAAAAATTTTGCTATGTCTGATCTACATGTTTGCATTTTGTTCAACTAAATTAATATTTGTAGATTGCAAGTTTTGTTTAAAATAACTTTATTGAGTTTTTAAGTCCTGATCTGTTCTAAGGTGCCTTTCTCACCTCCCATTGATTCAGTGATTCTGAAGTTCTTAATTTGCAAGTAAAATAAGTCTACTAGAGAGGAGGAAATCAGGCACAAATTGACCAATTCTCATGCCATTTGCAAAGCAAAACTGTAAGGATGATGAAACCTGGCTAACTAAATTAATGGATCATTTCACTAAATCAGATAGAGGAAATATCATAAATATTAACTTGTCTCCCTAGAAGCTGAGATTTTTCGCCTTAAATGACATGGTTGTGTTTTTGTAAGAGAAACTTAATCTAATCTAATAATGTGCATTTAAGTAAGCAGTTCTAAGTCATGTATGACAATGCAATTGTCTGTTTCCTGAAAACAAATAAATCGGGAACACCATATCCATTTCAAGCTATCATTAAAGTGTAATTTCCTTTGCTCTCTTTTACTGGGATTATTTGTTTTAAAGTAAAACATTAAAAAGATGTCTAT)$ MLNVPSQSFPAPRSQQRVASGGRSKVPLKQGRSLMDWIRLTKSGKDLTGLKGRLIEVTEEELKKHNKKDDCWICIRGFVYNVSPYMEYHPGGEDELMRAAGSDGTELFDQVHRWVNYESMLKECLVGRMAIKPAVLK|vcla* 11CO048 ENSG00000155313.15 ENSG00000155307.19(9404),ENSG00000232884.9(8473) +/+ ./- chr21:15766141 chr21:14668225 CDS/splice-site intergenic inversion 1 1 0 65 2 high out-of-frame . . . . ENSG00000155313.15 . ENST00000400183.6 . downstream downstream . ^(AAGCAGCCCGCGGACCGGCAGCAAAGGAACGTGCGAACGCGTGACGCCGCCCGACTGGCTCGCGCTCTCCCGTGCCCCGGCGTCCTCCGCCCGCTCATGGCCCGGGCCGCCGCGGACGAGCGGCGCTGAGGCGGGCCGCGTGGAGACGTGAGGCGGCCGCCGTGGCCCTCACAGTCGGCGTTTCGCCGCCTGCCCGCGGTGCCCGCGCACGCCGGCCGCCATCGCCTTCGCGCCTGGCTGGCGGGGGCGCTGTCCTCCCAGGCCGTCCGCGCCGCTCCCTGGAGCTCGGCGGAGCGCGGCAGCCAGGGCCGGCGGAGGCGCGAGGAGCCGGGCGCCACCGCCGCCGCCGCCGCCGCCGCCGCGGGGGCCATGACCGTGGAGCAGAACGTGCTGCAGCAGAGCGCGGCGCAGAAG___CACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAG)CAAGCCTTGAAG___GATAGTAATGGAAACTTGGAATTAGCAGTGGCTTTCCTTACTGCGAAGAATGCTAAGACCCCTCAGCAGGAGGAGACAACTTACTACCAAACAGCACTTCCTGGCAATGATAGATACATCAGTGTGGGAAGCCAAGCAGATACAA|GTTTTGGTATCCAGATGATTCTGGACTCATAAAATGGGTTAGAATAAAACACCTATGAATACAACTTACAAGGGATGTGAAGAATATTTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATGAGAGAGGACACAAACAAATGGGAAAACATTCCATGCTCATGGATAGGAAGAATTAATATCGTGAAAATGGCC MTVEQNVLQQSAAQKHQQTFLNQLREITGINDTQILQQALKDSNGNLELAVAFLTAKNAKTPQQEETTYYQTALPGNDRYISVGSQADT|sfgiqmilds* 11CO048 ENSG00000152894.14 ENSG00000146374.14 -/- +/+ chr6:128520259 chr6:127148648 CDS/splice-site CDS/splice-site inversion 12 0 0 76 36 medium in-frame Mitelman |Furin-like_repeat__cysteine-rich(100%) . . ENSG00000152894.14 ENSG00000146374.14 ENST00000368226.8 ENST00000356698.9 upstream upstream duplicates(1),mismatches(1) ^(AGAAGCGCCCGGAGCCCGCGGGGCGACGTCACCCCCGGCTCCGCCCCCGTCCCTCCCCGAGCAAAGTAACTCTTGACTAACAGGAGCAGCCTCCGCCGAGCATGGAGAGCTGCCGCCGCGGCCGGCCGG)CGACGCTGGCGACGCTTTCGCCCCTGAGGTAGTTTGGCGACCGCGAAGAAGGAAAAAGGGCGGGCGGGCGGCTGTCCTCTCACCGTCCTCACCCCGCGAGGCCCGGCCCGCTCCTCCGTCGTGGATTTCGCGGCGATCCCCCCGGCAGCTCTTTGCAAAGCTGCTTGAAACTTCTCCCAAACTCGGCATGGATACGACTGCGGCGGCGGCGCTGCCTGCTTTTGTGGCGCTCTTGCTCCTCTCTCCTTGGCCTCTCCTGGGATCGGCCCAAGGCCAGTTCTCCGCAG|TGCATCCTAACGTTAGTCAAGGCTGCCAAGGAGGCTGTGCAACATGCTCAGATTACAATGGATGTTTGTCATGTAAGCCCAGACTATTTTTTGCTCTGGAA(AGAATTGGCATGAAGCAGATTGGAGTATGTCTCTCTTCATGTCCAAGTGGATATTATGGAACTCGATATCCAGATATAAATAAGTGTACAA___AATGCAAAGCTGACTGTGATACCTGTTTCAACAAAAATTTCTGCACAAAATGTAAAAGTGGATTTTACTTACACCTTGGAAAGTGCCTTGACAATTGCCCAGAAGGGTTGGAAGCCAACAACCATACTATGGAGTGTGTCAGTATTG___TGCACTGTGAGGTCAGTGAATGGAATCCTTGGAGTCCATGCACGAAGAAGGGAAAAACATGTGGCTTCAAAAGAGGGACTGAAACACGGGTCCGAGAAATAATACAGCATCCTTCAGCAAAGGGTAACCTGTGTCCCCCAACAAATGAGACAAGAAAGTGTACAGTGCAAAGGAAGAAGTGTCAGAAGGGAGAACGAG___GAAAAAAAGGAAGGGAGAGGAAAAGAAAAAAACCTAATAAAGGAGAAAGTAAAGAAGCAATACCTGACAGCAAAAGTCTGGAATCCAGCAAAGAAATCCCAGAGCAACGAGAAAACAAACAGCAGCAGAAGAAGCGAAAAGTCCAAGATAAACAGAAATCGGTATCAGTCAGCACTGTACACTAGAGGGTTCCATGAGATTATTGTAGACTCATGATGCTGCTATCTCAACCAGATGCCCAGGACAGGTGCTCTAGCCATTAGGACCACAAATGGACATGTCAGTTATTGCTCTGTCTAAACAACATTCCCAGTAGTTGCTATATTCTTCATACAAGCATAGTTAACAACAAAGAGCCAAAAGATCAAAGAAGGGATACTTTCAGATGGTTGTCTTGTGTGCTTCTCTGCATTTTTAAAAGACAAGACATTCTTGTACATATTATCAATAGGCTATAAGATGTAACAACGAAATGATGACATCTGGAGAAGAAACATCTTTTCCTTATAAAAATGTGTTTTCAAGCTGTTGTTTTAAGAAGCAAAAGATAGTTCTGCAAATTCAAAGATACAGTATCCCTTCAAAACAAATAGGAGTTCAGGGAAGAGAAACATCCTTCAAAGGACAGTGTTGTTTTGACCGGGAGATCTAGAGAGTGCTCAGAATTAGGGCCTGGCATTTGGAATCACAGGATTTATCATCACAGAAACAACTGTTTTAAGATTAGTTCCATCACTCTCATCCTGTATTTTTATAAGAAACACAAGAGTGCATACCAGAATTGAATATACCATATGGGATTGGAGAAAGACAAATGTGGAAGAAATCATAGAGCTGGAGACTACTTTTGTGCTTTACAAAACTGTGAAGGATTGTGGTCACCTGGAACAGGTCTCCAATCTATGTTAGCACTATGTGGCTCAGCCTCTGTTACCCCTTGGATTATATATCAACCTGTAAACATGTGCCTGTAACTTACTTCCAAAAACAAAATCATACTTATTAGAAGAAAATTCTGATTTTATAGAAAAAAAATAGAGCAAGGAGAATATAACATGTTTGCAAAGTCATGTGTTTTCTTTCTCAATGAGGGAAAAACAATTTTATTACCTGCTTAATGGTCCACCTGGAACTAAAAGGGATACTATTTTCTAACAAGGTATATCTAGTAGGGGAGAAAGCCACCACAATAAATATATTTGTTAATAGTTTTTCAAGTTTTGTTCACTCTGTTTTATTGTTTGTTTTATTGAGAAATTCTTACTCTTAGAGACTCATGAATTAAGAAAGAGAATTCTGCTAACTCAGAGAACCTGGTTCCTATGTAATTCAGAATATATTACATTTCTCAGTAATATTTGTTTTTTGAATCCACCTTTATCTGAGCCAATGGAGATTTACTTATAGCGTATTAGGAGATATTTATTCCATTTTCTTATTTTAATCAACATTCTAATTATAGACACATGGGCCTCCCTAGCTGATTTCACTGCTCCCCCTTCATTGCTTAGAAATGGGCATCATTTCTTGTATGTCAGATCCCCCTGCATCTTCAACATTTAGTCTTTTCTTCTCCATATTTTCTATCTGTGGATCTCTTTAGGGGATTGAAGTCACCCTAGCTGAAGGCCTCACCAGTGTTTCACAGAGGACACAGCCCACCCCTTGCAGGAGGAGGTATCTCTGAGTGTGCAGCACAGAATCGCATGACCCACCTTAACCTTCCTGTTGTCATGGAAGGATGCACGGCTGCTCTGTCCACTGTGATTCCTAGCCCTCTCAAGATCACTGCTTTCTGAAGAATTTGCAATGACTCTGGCTTCTGGCTGCTTATCTCTGGACACCCGTTCTCCACCAGTTGTACAGTTCATGTAATCTACTTGGCTTAATTGATTTTCCACTTCTCTCTTCCTCTTCTAAGATATAAACATTTTAAATGATTTATTCCTGTTTCTTATTCTGGTGTTTCTTTCCTTGTCCCTATGAGATAAGTGTCTCAACTCACTAAATCTATTCCCAATGTATAAAATAATTCTAATTCCATTTTCAGCTAAAACATATATTACCAAGAAGAAACAAACTTTATCCTACAGAATGATGTTAGGTAGAAATATGTCCCCAGGTTTGAGACCTTTCGGATGATTTCATATACCATCTTTCTTCTGAGTGTTACCCAGTCAAGTATAAGTAGCCAAATTATTTTTGCACATCTTTCTGTTTCTCATGTCTTCATTTATTCAACAAGCACTTACTGGGAAGGTCTACACCTGCATAGGCAATGCTGGAAAAAGGGTTAAGTAAACCAGGACATGACAATGGTGGCAAATGACTATCAGGTCTTCCCATGTGTTTGACTCAAACTTATTACCCTATGGTCCTTCTGACAATGGCAGAAGGTCTGAATCCTTGATGCTAAACTTATATAAAAGTAGAATTATTACAAAGGAAAAAGAAATAAAAACTAACATTCATTTTCATATGTTGGATGAAATATAAATGAAGAAAAAGATAACATCAATTTTAACTGTAATTCTCCATCCACCAGTAACAGATCCTTAAGACAATAGAATCATACAGTATTCAAACCAGCAGCCTTCTCAAATTTGAGCAAAAACTCTATCAACCTCTGGTAAAGTTCCTACACTAGTCACAGAAGGTGTTAACTTTCTACTCTGATTCTGTCTCCATAATGGGGTAAACTGTTGATAGTTTACCCCATCAACAGATGGTCGGTAAATTATTGATTCGAAGAATCGAGAGAGTGCAGCAACATAAATCTGTTAATGTCTGATCAAGCTCCTGCCCTGTTCTCCGAATTCAGCTTCATAATTAAGGGAAGGCCTGTTTTCTATCCTCAGATTTAGGTTCTAGTAGCAGTTGTGTAACCACTAGTGAGTCACTTAACTCCTCTGGGTCCCCATTTCTCATGTGCAACAAGAAAGAGGGGAACTGGAGATGATCACTCTAGTTCCAGACAAGGGAACATTTCACACTTTGTTTACTTCAGGGTGATGTCCCTGAGTCCTCATTAGTGACTGCGTCCTTTGGAAGTTATCCCAACCCTGCTTTTCTCAAAAGTGAAAATGTATAGGCTCTCAGAGGAGACAGATTTAACTCTGCTTCTCTAATGTTATTGAATTAAAAGCTGTTCACATTAGTGGTTATTAAATATTGAAATAACACTGGGAAGAAAAAGCATATATAAATACAGCTAAAAACAAGAATAGATATTCATTCTCACAAAGGGAGACAGCAAAGAAAATGGAAAGTGCACTGGTGCTAGCGTTAGACAGCTTGTGTTAATGTCTCAATTCTGCTACTAACTGGTTGCAGCTTGTGTGACCTTGGGCACATTGTATGATCTCGCAGAATATCATCCCAAATCTGCAAAATGGAATTGGCATCATCTCTTTTGCAAGATTGTTATGAGAATTAAAAGGTTCTTCATTCAATATAATAATAAATATTTTGTATATAAATGAATATCAATTAAAAGTTATGACTAATTCCACAAGTCAAACATATAAATTTTATTTCTTGATTCATGATATGTGATAGTATTCATAAAAATGTACATGCATGATAATTTCAAGGAATAAGTATATATGTGAGAATCATGGAAATGAAATTAATAATATTAACTAGTAATTAAATTGTAA)$ MDTTAAAALPAFVALLLLSPWPLLGSAQGQFSA|vHPNVSQGCQGGCATCSDYNGCLSCKPRLFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYLHLGKCLDNCPEGLEANNHTMECVSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREIIQHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNKGESKEAIPDSKSLESSKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH* 11CO048 ENSG00000236088.10 ENSG00000278311.5 -/- +/+ chr17:14034008 chr17:36577983 exon/splice-site CDS/splice-site inversion 0 2 0 19 117 medium . . . . . ENSG00000236088.10 ENSG00000278311.5 ENST00000582752.7 ENST00000613102.5 upstream upstream . ^(GGGCGGGCTCCGAAAGGAGAGCGTGGTGTCTGGAGGTGATCGGAAGGGACTGGCTGGAGTGTGGCGGGCTGACAGGTCTGAGGCCTGAAGGACTTCCGGGAACCGCAAAGCACGGTGTGCCTCCGCTGTCCTGAAGAAAAAGCCGCGCGCGGACGACTGGCCGGCCCGCGCTTGCAGCTCCCAGAAGTTGACAGGCATCCTCCGGTGACCGG___TGTGAGTATGGCATCAGGATGATTTGACTGCAAGCAACAGAAAAATCAAACAAAAATGGCCTAAGCCAAGAAGAGAAATGATTATTTCACATTCCAAGAAGTTTGGGAGTCGAGTGGTTAAACGGCTAATTAATCTAGAGCTCAACAGTATCACCCAGGACCCATTTTCACTATGGTGGCTAAAGCTCTGCACCCTTCAGGCTTGCACCATGGCAGCAGCAGTGACAGTAAAGACACCCTTACACCACAATGCTCCATGACCAGGGAGAGGGTCTCCTCTCTCCTGCCCCTTTCTGGAGGCTCCACCGAAGATTTCTCTTCACATTCCGTTTCTCATTCCTGA)AGCAGTTGCTGGCAACAGGGATGGACTTACCGCAATGGGTACAGAGCAACTAAGATTCACCACTAG|GTTTTGCACTGATTGCAAAAATAAAGTCCTCCGAGCATACAATATCCTTATTGGTGAACTTGACTGCAGCAAAGAAAAGGGCTACTGTGCTGCACTTTATGAAGGCTTGCGGTGCTGTCCACATGAACGACACATACATGTTTGCTGTGAAACAGACTTCATTGCACATCTTTTGGGTCGTGCTGAG(CCAGAGTTCGCAGGAGG___GCGAAGAGAAAGGCATGCAAAGACAATAGATATAGCTCAAGAAGAAGTTCTGACCTGCTTGGGAATTCATCTTTATGAAAGACTGCATCGAATCTGGCAGAAGCTACGGGCAGAAGAGCAGACATGGCAGATGCTTTTCTATCTTGGTGTTGATGCTTTACGCAAGAGTTTTGAG___ATGACCGTGGAAAAAGTACAGGGTATTAGCAGATTGGAACAACTTTGTGAGGAATTTTCAGAAGAGGAACGAGTAAGAGAACTCAAGCAAGAAAAGAAACGCCAAAAACGGAAGAATAGACGAAAAAATAAGTGTGTGTGTGATATTCCTACTCCCTTACAAACAGCAGATGAAAAGGAAGTAAGCCAAGAGAAG___GAAACAGACTTCATAGAAAATAGCAGCTGCAAAGCCTGTGGCAGCACTGAAGATGGTAATACTTGTGTAGAAGTAATTGTTACCAATGAAAATACATCATGTACCTGTCCTAGCAGTGGCAATCTTTTGGGGTCCCCTAAAATAAAGAAAG___GCTTATCTCCACACTGTAATGGTAGTGATTGTGGATATTCATCTAGCATGGAAGGGAGTGAAACAGGTTCTCGGGAGGGTTCGGATGTTGCCTGCACTGAAGGCATTTGTAATCATGATGAACACG___GTGATGACTCTTGTGTTCATCACTGTGAAGACAAAGAGGATGATGGTGATAGTTGTGTTGAATGTTGGGCAAATTCTGAAGAGAACGACACAAAAGGAAAAAATAAAAAGAAGAAGAAGAAAAGCAAGATACTGAAATGTGATGAACAT___ATCCAGAAGCTTGGAAGCTGTATTACAGATCCAGGTAATCGAGAGACCTCAGGAAATACCATGCACACAGTGTTTCACCGTGACAAGACCAAAGATACACATCCTGAAAGCTGTTGCAGCTCTGAAAAGGGTGGGCAGCCATTGCCTTGGTTTGAGCATAGGAAAAATGTACCACAGTTTGCAGAACCTACAGAAACGTTGTTTGGTCCCGATTCCGGAAAAGGTGCCAAGAGCTTAGTTGAACTCCTT___GATGAGTCTGAATGTACTTCAGATGAGGAAATCTTTATCTCACAAGATGAAATACAGTCATTTATGGCTAATAACCAGTCTTTCTACAGCAATAGAGAACAATACCGACAGCATCTGAAGGAGAAATTTAATAAATACTGCCGGTTAAATGATCACAAGAGGCCCATTTGTAGTGGCTGGTTGACAACGGCTGGAGCAAATTAAATAAATAAAATAGCTCTGTCTTTCAATGAAACACTCACGATGACTACTGCGCCTTCTCTTTCGAAAAACTCTTAATTTAGTGACTTATGGCAAAATTTTATCTTAAATCAATGTGATTCTTTCTTGTTTTGGGAGACGGTGGAGGTATCCTCATTAGTTCTTTCTTCAGGCTTGTGTCTTTAGTTGCGTGGCTGCGCAGGCCTGCCATATGATTTAAGCCATCTCTTTTCATTAAATGTTTCTCTTCCTGTGAGACTTACTAAAGCAACTTAGTGGCAAAAAGTAATGTTGTACTTATAATTCTGTACAGAAATGACAATGAGCTGAATATATGGTTTTACAAAGTAGACATCCACTTGCAAAATGTTTGGATGTAATGTTAAAGCGCAATGTGCAAAATTTAAAATAAAGAATATTTATTAATACGCACAGTAAAA)$ . 11CO048 ENSG00000135334.9 ENSG00000234426.3 -/- -/- chr6:87701450 chr6:88299015 CDS/splice-site exon/splice-site duplication 0 2 0 92 3 medium out-of-frame . . . . ENSG00000135334.9 ENSG00000234426.3 ENST00000257787.6 ENST00000648572.1 upstream downstream . ^(AGAGTTCTACGAGGGAGGGGAAGCGGTTGGACGTGTTCGCTTGGGTTCCTGCTGCGGCAGCTACCTCGCAATCTCTCTGCATCGATCGCCGCTCGCAAGCTACTGACCGTACTCGGGCGTATTAGGAGCCGCGTTCCAGCCTCACACCCCACGGTGCTGTTTTCGACTTCAGAAAGGATCTAGTCTCAGCACAGAAGCGCCTCAGGCGCGGCGCAAAGCTCGAGCGGACGGCGGGGGCGGCCGGAGCCTCTCTCGGGGGAGCCGCGCCTGAGGAGGCGGAAGAACCCCCCTGACGCGACTGGCGTGTGCTTCTGCCCGCCACCGCCCCTCCCGCTCTCACCCGGGCCGTCCCTGGCCACTGCCCCTGCCGCGGAGGCAGCGGCGGCAGCGGCTCTCCTTTCCACAGCCGGCGCTCCGCGACCCGCTTGGCTCCTGAGCCCGTCGGGTAGGCTCTCCTCGAGTTCCCGCTCTTCACCCCTTCCCTCACCCTCTTCTTTCGTCACCCGTCCCCGACCCCACCCGAGCCCGGCGCCTCAGCTGCCCCCGGCCATGGCGTGCGGAGCCACTCTGAAAAGGACTCTGGATTTCGACCCGCTGTTGAGCCCGGCGTCCCCGAAGCGCAGGCGATGTGCGCCATTGTCGGCGCCCACCTCGGCCGCTGCCTCCCCGTTGT)CGGCGGCCGCGGCCACCGCCGCCTCCTTCTCCGCTGCGGCCGCCTCGCCGCAGAAGTATCTCCGAATGGAGCCATCCCCCTTCGGCGACGTCTCCTCCCGCCTCACCACAG|GCAAACTGAGCTCCTGAATCATTAGGATGGACGCGCCATCAACAGAATCTGCTTTTAGTGGAATGGGTCTTCGGATAATCTGTTTTCATCACATCAAGAGCTAAGCCAGTCAGTTAACACAGAGGAAATATTAAAG(GCAGTATTTTTTCATTAAG___CAACCAGCAAGCACTTTATGGAACTTAAGAAAGGAAGACCCCACAAGTGGACGAAGCTGAGTTATGTTCTGCTCCCCCCACCCAGATACATACAACAGGACTGCCTATCACATGCCAACCAGTGCAACTGAAGGAG___ACAGAACAAATATGCAGATGAGTCATCCAACTTGCAAAGAGGCCATGGGAGGCACGATGAGGTCAAGAAAAGAGCAAACTGACTTAGTGAGAGAGACCAAAGTTCCACTGCCATCTTCCAGCTGTATGACTTGCATATGCCATTTAAATGAAGTCTGGGTTTTTTTTAATCTGAAAAATTTGCCTTATCTACCTCAAAAAAAGGGGATGAAAATGCATCTTAAGCATGAAGTGTTATGCAAATCTTGGTTGTGGTTATTACTATAATTTCATGTATTGATTTTAAACAAAATGTACTTTGAGTTGGAAGGTAAAAAATATGAAAGACTCTAAGAATGGGTAGGCGGGGAACCAAATGATCTGTGGCCACACTGAAGGTAGAAAAAAAGGAAGTGAATTTGAACTAAAGAAGCAGAAGTTGAGAAAGTACCAAAGTCTTTGACTTTCAGAGTGACCGAACACCAGCATAGTTCACCAGAGAAGATCAGGAATGCTGTCTCTTCTGAAAGGGTACCAAAAAGAGAGTAAACAGATCATTCTATATTGATCAAGGAGTGGCAAACTGACATCTGCAGAACAAATCTGATCCCCAGATGAGCTCTATTTGTTCAACAAAGATGTTGTCGTTGTTA)$ MACGATLKRTLDFDPLLSPASPKRRRCAPLSAPTSAAASPLSAAAATAASFSAAAASPQKYLRMEPSPFGDVSSRLTT|gklss* 11CO051 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 15 0 32 39 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),mismatches(2) CCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO051 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 7 13 0 22 32 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),inconsistently_clipped(1) AGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATC(TACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO051 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 12 0 24 102 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),inconsistently_clipped(1),mismappers(1),mismatches(3) GTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGG(AGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO052 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 9 1 21 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(2),low_entropy(1) CATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGaACGCC(GACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO052 ENSG00000164219.10 ENSG00000152503.9 -/- -/- chr5:115212420 chr5:115171222 CDS CDS/splice-site deletion/read-through 6 4 0 67 13 high in-frame . Prenyltransferase_and_squalene_oxidase_repeat(100%)|B-box_zinc_finger(100%),Fibronectin_type_III_domain(100%),RING-type_zinc-finger(100%) . . ENSG00000164219.10 ENSG00000152503.9 ENST00000419445.6 ENST00000379618.6 upstream downstream mismappers(1) ^(GCGGCGGACGTCGCTTCCGGAGCAGCATGGCGGCCACTGAGGATGAGAGGCTAGCAGGGAGCGGTGAGGGAGAGCGGCTGGATTTCTTACGGGATCGGCACGTGCGATTTTTCCAGCGCTGCCTCCAGGTTTTGCCGGAGCGCTATTCTTCACTCGAGACAAGCAG___GTTGACAATTGCATTTTTTGCACTCTCCGGGCTGGATATGTTGGATTCCTTAGATGTGGTGAACAAAGATGATATAATAGAGTGGATTTATTCCCTGCAGGTCCTTCCCACAGAAGACA___GATCAAATCTAAATCGCTGTGGTTTCCGAGGCTCTTCATACCTGGGTATTCCGTTCAATCCATCAAAG___GCTCCTGGAACAGCTCATCCTTATGATAGTGGCCACATTGCAATGACCTACACTGGCCTCTCATGCTTAGTTATTCTTGGAGACGACTTAAGCCGAGTAAATAAAGAAGCTTGCTTAGCGGGCTTGAGAGCCCTTCAGCTGGAAGATGGGAG___TTTTTGTGCAGTACCTGAAGGCAGTGAAAATGACATGCGATTTGTGTACTGTGCTTCCTGTATTTGCTATATGCTCAACAACTGGTCAGGCATGGATATGAAAAAAGCCATCACCTATATTAGAAGGAGTATG___TCCTATGACAATGGACTGGCACAGGGAGCTGGACTTGAATCTCATG___GAGGATCAACTTTTTGTGGCATTGCCTCACTATGTCTGATGGGTAAACTAGAAGAAGTTTTTTCAGAAAAAGAATTGAACAGGATAAAGAGGTGGTGTATAATGAGGCAACAAAATGGTTATCATGGAAGACCTAATAAGCCTGTAGACACCTGTTATTCTTTTTGGGTGGGAGCAACTCTGAAG___CTTCTAAAAATTTTCCAATACACTAACTTTGAGAAAAATAGAAATTACAT)CTTATCAACTCAAGATCGCCTTGTAGGGGGATTTGCCAAGTGGCCAGACAGTCATCCAG___ATGCTTTGCATGCATACTTTGGGATCTGTGGCCTGTCACTAATGGAGGAAAGTGGAATTTGTAAAGTTCATCCTGCTCTGAATGTAAGCACACGGACTTCTGAACGCCTTCTAGATCTCCATCAAAGCTGGAAAACCAAGGACTCTAAACAATGCTCAGAGAAT|ATGCCGGATTGGAGACGAGGCTACCGCTGCAGACAGGGCTGTGGGAAGACGACGGAACTTGCCACAGCGACAGACTTCTCCCAAACAGGAAATAAAAGTGGG(AAGCATTTTAAAACCTAAA)$ MAATEDERLAGSGEGERLDFLRDRHVRFFQRCLQVLPERYSSLETSRLTIAFFALSGLDMLDSLDVVNKDDIIEWIYSLQVLPTEDRSNLNRCGFRGSSYLGIPFNPSKAPGTAHPYDSGHIAMTYTGLSCLVILGDDLSRVNKEACLAGLRALQLEDGSFCAVPEGSENDMRFVYCASCICYMLNNWSGMDMKKAITYIRRSMSYDNGLAQGAGLESHGGSTFCGIASLCLMGKLEEVFSEKELNRIKRWCIMRQQNGYHGRPNKPVDTCYSFWVGATLKLLKIFQYTNFEKNRNYILSTQDRLVGGFAKWPDSHPDALHAYFGICGLSLMEESGICKVHPALNVSTRTSERLLDLHQSWKTKDSKQCSEN|MPDWRRGYRCRQGCGKTTELATATDFSQTGNKSGKHFKT* 11CO052 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 20 10 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . GGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTA(GAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO052 ENSG00000119139.20 ENSG00000164418.20 +/+ +/- chr9:69151771 chr6:101573553 CDS/splice-site intron translocation/5'-5' 3 6 0 21 18 high out-of-frame . . . . ENSG00000119139.20 ENSG00000164418.20 ENST00000636438.1 . downstream downstream . GGTGCGAAGTACCACATTACTGTCATCTCCCTGTGAGTGGGATTGGCACCCCGGCTGCAGCTCCAGGAGCAAGTACTCCAGGAAGCACAGAGCTGTACCAGTACACGGCCCACGTTGCCAG|ATGAGTGAAAATGATAGAAATCCTCCAGAAGGAAAAGAACTGGATTATGAAACAAC___AATTTGATTTTCAGGACAACTCTCACTAGTGGACACCATGGCCCTCCTCTCCTCACTCCCTACCTCCAAGTAGCTTCCTAGATAAACAATATTCAGCCAAGCAACATTGAATGTAAATCAT VRSTTLLSSPCEWDWHPGCSSRSKYSRKHRAVPVHGPRCQ|msendrnppegkeldyetti* 11CO052 ENSG00000285130.2 ENSG00000164418.20 +/+ +/- chr9:69151771 chr6:101573553 CDS/splice-site intron translocation/5'-5' 3 6 0 21 18 high out-of-frame . . . . ENSG00000285130.2 ENSG00000164418.20 ENST00000642889.1 . downstream downstream . ^(GGAGGGCGGAGCGGGCGGCAGACCCGGAGCAGCATGTGGACTCTCGGGCGCCGCGCAGTAGCCGGCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTCACCCGGGTCCCGCGGCCGGCAGAGTTGGCCCCACTCTGCGGCCGCCGTGGCCTGCGCACCGACATCGATGCGACCTGCACGCCCCGCCGCGCA___GTTAACGTGGCTCCTGTGGCTGTTCCATCCCTGAGGAAAAGTGAGGACCATGCTCTCCAAACAGGCCATGTGCTGGACTACCTCTGTTTCTGTCTCCTGGGATTCCAATCAGCAAGTGAGCAACGAAGCAACCCAGACAGTGTGGTTCATAGGATGGCTGG___)GGTGCGAAGTACCACATTACTGTCATCTCCCTGTGAGTGGGATTGGCACCCCGGCTGCAGCTCCAGGAGCAAGTACTCCAGGAAGCACAGAGCTGTACCAGTACACGGCCCACGTTGCCAG|ATGAGTGAAAATGATAGAAATCCTCCAGAAGGAAAAGAACTGGATTATGAAACAAC___AATTTGATTTTCAGGACAACTCTCACTAGTGGACACCATGGCCCTCCTCTCCTCACTCCCTACCTCCAAGTAGCTTCCTAGATAAACAATATTCAGCCAAGCAACATTGAATGTAAATCAT MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRAVNVAPVAVPSLRKSEDHALQTGHVLDYLCFCLLGFQSASEQRSNPDSVVHRMAGVRSTTLLSSPCEWDWHPGCSSRSKYSRKHRAVPVHGPRCQ|msendrnppegkeldyetti* 11CO052 ENSG00000134909.18 ENSG00000152402.11 -/- -/- chr11:128998319 chr11:106810478 CDS/splice-site CDS/splice-site deletion 3 1 0 18 6 high out-of-frame . PX_domain(100%),Variant_SH3_domain(100%)|Adenylate_and_Guanylate_cyclase_catalytic_domain(100%),Heme_NO_binding_associated(100%) . . ENSG00000134909.18 ENSG00000152402.11 ENST00000310343.13 ENST00000526355.7 upstream downstream . ^(ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAAGAGGAAGAAAGGGAAGAGAAGTTCAG___GAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTACACCCTCGAGAGCGGCCTGATTGGGAAGAAACTCTTAGCGCAATG___GCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAAAA___GTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAG___CTTTCACTTTCAGAAGAACAGAATGAAGTAATGAAAAATGGCTGTGAATCTAAAGAGCTGGTCTACCTCGTGCAGATTGCTTGTCAG___GGAAAAAGTTGGATTGTTAAAAGAAGTTATGAAGATTTTCGGGTACTTGATAAACATCTTCATCTGTGTATTTATGACCGAAGATTTTCCCAGCTCTCAGAACTTCCCCGTTCTGACACCCTGAAGGACAGTCCAGAG___TCGGTCACTCAGATGCTTATGGCTTACCTGTCACGCCTTTCAGCTATCGCTGGCAACAAGATCAACTGTGGGCCCGCCCTTACCTGGATGGAG___ATTGATAATAAGGGAAATCACCTTTTGGTTCATGAGGAGTCATCCATCAACACTCCTGCTGTCGGTGCTGCCCATGTTATCAAGAGGTACACTGCTCGGGCCCCTGACGAACTGACCTTAGAG___GTGGGAGACATTGTTTCTGTTATTGACATGCCCCCGAAAGTGTTAAGCACATGGTGGAGAGGCAAGCACGGATTCCAG___GTGGGACTCTTCCCTGGACACTGTGTTGAGTTAATTAACCAAAAAGTTCCCCAGTCAGTGACCAACTCAGTGCCAAAACCAG___)TGTCTAAAAAGCACGGCAAGCTCATTACGTTCTTACGAACATTCATGAAGTCTCGTCCAACAAAACAGAAGCTGAAGCAGCGGGGAATCTTGAAAGAGAGGGTGTTTGGTTGTGACCTGGGGGAgCACCTTCTAAATTCTGGTTTTGAAG|GTGATGGAAGTCAAAGGACAAATGATCCATGTTCCAGAATCAAATTCCATTTTATTTTTGGGCTCTCCATGTGTGGACAAGTTGGATGAACTCATGGGCCGAGGGCTACATCTCTCAGACATCCCTATCCATGATGCCACCCGAGATGTCATTTTGGTTGGTGAGCAG(GCAAAGGCCCAAGATGGGTTGAAGAAAAGGATGGATAAATTAAAGGCAACTTTAGAAAGAACTCACCAGGCCCTGGAAGAAGAGAAAAAGAAGACAGTGGATCTTCTATATTCTATTTTCCCTGGTGATGTAGCCCAGCAATTATGGCAAGGGCAGCAAGTACAGGCCAGAAAGTTTGATGATGTCACCATGCTCTTTTCAGACATTGTTGGCTTCACAGCCATATGTGCCCAGTGTACTCCCATGCAAGTAATCAGCATGCTGAATGAACTGTACACCAGATTTGACCACCAGTGTGGATTTTTGGATATTTATAAG___GTGGAAACAATAGGTGATGCCTACTGTGTTGCAGCAGGGCTCCACAGAAAAAGCCTCTGCCATGCTAAACCCATTGCTCTGATGGCCTTGAAGATGATGGAACTTTCAGAAGAGGTGCTGACACCTGATGGAAGACCGATTCAG___ATGAGGATAGGAATTCACTCAGGCTCCGTGCTGGCTGGAGTTGTTGGGGTGCGAATGCCACGTTATTGCCTGTTTGGAAATAATGTCACACTGGCAAGCAAATTCGAGTCGGGAAGTCACCCTCGGCGCATCAATGTCAGCCCAACCACTTACCA___ATTATTAAAACGAGAAGAAAGTTTCACATTCATTCCGCGGTCTCGTGAAGAGCTTCCAGACAACTTTCCAAAGGAAATTCCTGGGATCTGCTATTTCCTGGAGGTAAGGACTGGTCCAAAGCCACCAAAGCCTTCTCTTTCTTCGTCGAGAATAAAAAAGGTTTCCTACAACATCGGCACCATGTTCCTCCGGGAGACAAGCCTCTGAGACCTGCTACAGATCAAAGACTCCTCCAAAAAGCACAAGCCCAGAACATGGGTCACCAATGGGGGGTGGAAAGAGATTGTGTCTCTTTCATTGCTTTGTTGAGAACAAGCAGCAAAATTTCTGTATTATGTCAGGCAATAATCCTACTAAAAGGTGGAGGTGACCGCTGTCAATAAAAAGCCGGAGGATGAGGGAAATAAGATGTGTCCATTCATATGAGTGGTTTTGGTCATATATATACACATATATTTTAATTACAAGTGTGGGTCCCCTTTCAGAACTAACCAATAAATAGATTCCATGTTTTCTTGTTTATCACACATACAAGTATCTTTCCCTATATATTTGTACCACTTTTGAGAGCCAGTTTTGATTATATATTCCTACATTTAGTGAGTTGGTGGGTGAGGAATATTTTCTAAGTTTCTTTTTCTGAACAGACATTTCATACATGTATCATGGCAGTGTGGTAAACTTCCCAACTGGAAGAATTGTAACTCGGCAAAATATTTTAGGGATATTACCTATTTTTATACATATCTCTTCTAGATAACTACATTTCGCACAACATTATTAGATTTTCAGAATCTGCTTCTGTATTGTTAGTATATTATATATAATGCTAACCTATTAATCTAATATAGTTTCCCTTATTTAGAGAGATCAGTGCTTCGACTGAGAATACATATAACCAAGGATTTCAGATACCAAGAAAGCATTATATGTCTGCTTAGTAAATATATCTTTTAGATTTAACTAATGTAGCATGGAATCCAGAGGAAATGGAATTTCCTAACACCAGATGTATCTGTAACCAAGATTAAAGAAAGGTCTTTTTGCCACCTTCTAACAAATATCAGTTAAAATGAAATGCTTTGCTACACTGGATCCTTTTCAACTTAGCACTTACAAATATAGGTAGCTTTTGCAACACTAAACTGCATTCTAATAAACAGCATTCAGCTAAATGACATGTTAGTTACCCCCTTCCTCTTCCCCAGTTGATGCCTCCTAAGAGCCGACTGCTATTCTTGAGAACAAATTCCTGGATACTGGCATTAGTGACAAAGAAGTGTCAGGACAGTTTGCCAAGAATGTTGTTTCTTCTTGTACAACACAAAGCAAGGAAACCTCTGTATTTTATGGCTTTGAGGTTTTAAAAAATGTTCTGCAGTTTGATTGATATGGCTTTTAAATTCAGTGAATCACTTTCATGAATACTGAAGTAGGTATAATCTTCAGAACTAGTAATCATTATAGTTACAGATAGGATTCCATCGCATGTCCTGCTCAAATGAAGACCTGTTCTCATTAATCAATACTGCATGAAAATATTACTGGCTCACACTAAAATTAGGAGCATCAGGTGTCCAGAGTTTTCCTGTTTGGGTTCAGATATAAAATCTAAGTTTCTATTGAGGTTAATAAGCTGGAAGCATTTGTTTCCTTTAAGCCTTGGAGAGGTCATTTTCTTACTCATTGATAGCTTATGTCTACTGAATGCAATATTCTTTTCTGTTCAGGGATTTTGGCTGCATTATGATTTGGTTATGACATAACTCAGTTAAGGAATATATTTACTAATTTCCAATGTAGTCTATGAGGTTCATTTAATGTTTTTAAATTTTCTATGTGTGTGGCTAGAAGGCATTTGTAGATATGCAAATATTTGTTATAATCCTGATCCCTTTTATAATTTGAGTTATTTTCTTGCCCTGGGGGTTTACAAGGACACGAGTGCAACACTCTTTATATGGAGAAGACAGGAAATAGACCTTGAGCTCTAAACCTTTGCCTGACCCCCTCTTCTGTGGGCCTGTGTTTCTGGACAATGGGGAGGTTTACAGCCAGTATGAGCAGAGCAGACTGGGAGCACCTCAATCCTCATGCTTATATTAGAAAATGCCTTAGCAATGTTGATGGGCTCCTTGTAGCACTGGAGCATGGGGAGGGAACAAGCTCACTGATGTCATTTATGCCTATTGTCTTCAGTAACTTAGAACTTATTATGGTATATTAAATCAATAAAATGTTGGTGATGAACAATGTGTTTTGTAACCATAAGGCTGAAAGGGACTTCCAGGAATATCCAATCTATTTCTCTCACTTTTTATAAAGATTTGTCTAAGCAACTACTCTAAACACATATTTATTATCTCCATACTTAAGAATATCTACGGGAAGCATATTTGAAAAGCATCATTGGAAATCCACCTCAATACTAGTGATAGGCCTGGAGAGAAGTATTGTATTTATATATCTCAATTTATCAGAAGAATCACAAATTCTGTATTAGTTTATATGATTTTACTTAGAGAATAAGTATCCATTTACATTGCCATAAATGTCACGATGAAGAACGTGCCAGAGATTTCTTATTTATCACTGACAGGATGTCAACTACATTTTTCATACATTATAACCTAAGTGTATTTTCACAGCTATAGTCCGAGATAATGGTCCAATTTGTTATCATTTTGCTAATCTATTATAGTTGATTATTGTAGTTACAATGTTGCTATATATGTTTATGAGGTACTATATAAAATGTCTGTTCATTCAAACTTCAATCACAGAAGTTAGAAGATGGAGAAAAAATTATATTTTTATTTGTCCTACACAATGCCATCTACATCTCTTCTCTTAGGAATTGTGATTGTAACAATGTGGTGGCATTTGTTATTTCATATGACTTTTATCTATACAGTATTCTCACTTACTTACAAACTATTACCAACAGCATGCATTTTAGTATGGCAGATACAAGAAATTTGTGTGATGTTCCCTTAGAAACCAAATGATATTAAATTGGGGAAATGGTTTTAACCCACTCTGCAAGGGATACTTTAAAATATAATTTGGCACCTATAGCTCTTGCATTTTAATATTCTTTTAAGCTGCTGTTTGGAAGAAGGCACCTTATAACTAGCCATTAGCACCAAAGCATCACGTTGGTATCAGGATTATTTTGATGGAGAGAATGTCATCATTTGCAAATAAATCAGTTATCTAACAAAATCAGAATCCCCCAATATGTACTCAGAATGTACTACCCTGTATCTTCTTTGTGGACCTTAATCATTAGGTAACATTGGCCATAATAAAAAATAATAATATGCTTCAGAAACATAGTAGTTGGATCTCTTGTCTATATAACGTAGAGAAGGGGAAGAAGACATAGCTTCCAGGTAACATGGGACCCAATTGCGTACAATCTGCCTTTATATTCATCTCTTGCTCTATATTTTAAGTAATTTCAGATTTTCCTTTTAATATCTGATTATGTGGAATCAAGTGAGCTTTGATCTGGGACTCTGAGACAGACATTGATGCCTGAGACTTGAGAGTGGGTCTGTAGGTTCAGCACTTCAAATGTTGTTTCTTACAGTCTTGCACTCCTTCCTCTTGTCCAGTAACAACGGTGTCAGGACACAGTAGTTTAGTGTGAATATGTGTGTCTTTCCAGGAAAAACAAAGCAAAAGAGGATAATAACAACTTAAACAAAATCTCATTCACAAGGGGAGCAAGACTTTTAATTTTGCAAATGCCTCCAAAGAGTTCCAGCAATAAAGCAAAATTAAATTGATAGATAACAAAAGGCAAAGCCATGGAGAATTCTGAAAACCCCACCAGGCTCTGTGTTTTGTATAGAATCATACTGCTGCTGAATGAAATTGTGTATCTAAAGTCGTAAGGCATCAGGTAGGAGCTCAAAATTATGACCATAATTAAATATATTTGTTGAAGGCTCCTTGGGTCCCTGACTTTCTGAGAGCAGGTGTTGTGGATGGTTAAGGCAAAAAGTAAAACTTTTACACACAGGTTTCTGTCTTGTCATTTTGAGAATGACTCAGTCCATTCTGGACCCTTTCTTACTCCATTCTGTCACTAGAAACCATCTCACCCCCTCACGCCTGGCCACAGCAAACAGCATTCTCTCTTCACTTCTGAACCCAGAATGGCTACAGAAAGGGTTGCTGGTGCCTCATTCAGGCGGATAGGAAGGACCACACACAGTCAGGCCTGAGCAACAATGTACTTCTGAAGTGTAGTAATGAACTGGATGTGCCGGGGCATTGATTATATCTGCAGCTTCACCCTCTGCTCTTTCTTCAAAACACAGTCTGACTCCAAGCACTTCATACAGCTTCACTGAATGTTCCTTTGAAATTAATTATAAATGACTCTGAATAGGCTTTGGGTAGCACCAGGCGTCTTTCAGCTGACAATATCTAGAAACTCAAGTTCAAGAACCAAGCCCTATATCGTAGCTTAGTTTTTTCTACTATTAGATTATAGACCTTCAGCTACAAAAATTATGTCATTTCAGAGGCTTCTATAATCATAGCTTAATAATAGATATAACCCAAAAATCATGATGCATGAGACTGAATTATTGAAGTTTAACATATTTCTAAACGATTTATGGGCAGCTCTTGATATGAATGTTCCTAAACCACAACCAGCTGGTTTAACATACACATAAATTGTGTTCATGTGATTGAACAAAATTTATTGTTAAATGGGTAAGTTGACCTCAGCTATGGACTCAATTTCAAGATCCTCGTAGTGGTGAATGAAGAGCAGACACTGATATTACATACAGATTAACAATCTTGTCAGGCTATACTGAGATAGTGTGCAAAATTCCTTCCTCACACTTGATCCAAACAATTGAAACCTGCGTATGACTGTTCTTCCATCCCTTGTTTTCTTCCTTCCTTTGTTCCTTCTTTCCTTTAATTAAAAAAGGTCACTGATACATTTATAACACAGGAAGTATCACAGCTAATCCCATATTCTAAAATAGTTTTATAAAGTGATTAATATTTTTAGTTTGTGTGTATGCATCTGTGTTTATTGAATGTAGATGTTTCATGATTGAAAGAAGTAAGTTTCTTTGGAAGGACTTGGGAATGCAGAGAAGTAAAGTTTGTGTCTTTATTTCTAATATGTTATAACCAGATCACGGTTTCAGTTAAGTACCTCATTGCCATCCCATCCTTAAGAAATGACCTAGTTCAGTGGTTCAGCTGATCTGCTTGGAAGTATCTGGCTGGCTTCATAAGAATTCCGTAGGGAGTTTTAGGAATACAGAAGACTAGTCTTTACCTTCAGAGATTTGGATTCAGTAGGTCTCAGGTAGGGCCTAGGAATCTGTGTTTAGAAAATCACTCTAAGTAATGCTAATATACAGCCAGACTTGGGAATCATTGAAAAGTATTCAAATAATCCCAATTACTAGGAATAAATACAAGTTGACTGGGATAGTGATGTTATTTCATTTGTAGTTATTTTGAAAAGTTAAATACTCTAGGCCTCATACCATTATTTCTTTCACAAATTTTAATTTTAGCTTTGATTTCCAATTTGTGGTCTTCTTTCTGAGCATGAATCTTCAAACTTAGAGACAGACGTCAACACTGATAAGCATGAGGGATGAATATTGCTCACTATAGGGCTATTAGGCATACTAGATACAGTACCATTTTCTTAGTTACTGCCAGAGCTGTGCAGTATATTACAACATTTGCTAATCCTCACCACCGAGGTAAAAACTATGACCTTTGGGACACAGAAGCAAATATCAAAGTGACAGCCTTACTTCTGAATGCTTTGATTTTTATGTCATGAAAAGACATCAACTTAATACTTAGTCTCACTATGTACTTTTCATATTGAATTGTACATTATCTGAAAACTGATTTCCAAGCAATACCGTGTAACAACCTTTCAAGCAATAATTTAAGCCATGGTGATGATGCCATATGAAGCTTGCACTTCTTTGCATTTCATAGAGCCTTTGTGAAAACAGAAACATGTTTTATACAAGCAATAATATAGCTGGTGTGGACTTTTTAAAGATACTCATTATTCTGTAGCAAAATGAGCAGCAAGTAATGACTCAGATTAAAAATATTCGGGCAAATGACATGTTTAATCTATCTCAGAAGTTATTCATTTGCAAACATGCTGTAAAGTGATTAATATACATCAGATTATTTCTGGTGCATAATTTTAAACATGGCTATAAAAATATGATTTCTATTCCTGTCAAAGAGATTTGTGTATTATTTATAATGTTGCCCAATTTTTGGATCTTTGTAGTATATAATAGTAAGGAAGAAGTTAAGGATGGATAAATGAGTGGAAGTAGAGCATAGGTTGGAAGAGGTGATTGAGAAAGTAGGCTTTGCAAAAATATAGATGGGTCTTGCGGCAGATTTATTCAAATGTTGGTTTGATATGGTCTTGGAAGATGAAAGAGTAAAGATAAAAGAGCTCATTATTACTGTTTTCAATGATAGCTACACAAGTTTTTGGTAAGTATGATAGTATTTTGACTTCAGAATATGATTGACTGAAAGTCACCTGTAGCACAATAAATAAAAGTCTGAAAATGATTATTCAGTAATACTGAAAAAACACTAAAGCTTTCAGATTTCGAAATGAAAAAATCATGTTTTTAGTCTACTTAAAATACAATTTTAATAGAATGTGGCATAGTCAATGATAATCAGTTCTTTAGTAGTTAAATTTACTTCATCATTTAGAATAATGTATAAGGATTACAGCTAAAATCAACTAGTAAATTTATGTTTATACTGAACAGTATCTAAACATCAGATTATGATTTAGCATATAAGCTTAGGATTCATTCCTAAGCATCTAAATAAGATGACAGCTCCTATTATTGCCCTGCAAGGTAAACAATCCCCTAAACATGAATATGAACCCATTTGAATGGTGGGTGTGTTCGATATTTTGTCTTTACCTTTCTATTACTCATAGCAAAACTTAATTTTAGCATTCTCCTGCCCACAGTTTGGAAAATTTCCCTATCAAAATCAAACCGGATTGTTGATTTACTGAGGCTTTGACAATTATCCTCTTGTATATCACTGGATCCTTAAATCCTTAGTAAGAATGGTTTTGGGTTAAATAAATAATGGAAAATATTTAATTTGAATCTATTAAATTACACTGAAGTTATCCTTCCAGTTAATTCAGCTAGTTGCTGATCAGATCATTCTTTATATTAGACTTAAGTATTGTTGCTTATTATTTAAAAGCAGAAAAGAAAAACCAAATGGCAGGTCTGAGTAATAGTTACTTTTTGATTCTTTTGATACATATTTTTAAACTGAAGAAATCACTTTATATTCAGTCTTCTTCTGTGGACTTTTTGCTATTTGCAGATAAAGAAGGAATTCTACTTAATATATTTTTACTGTGGTCTATTAAATGTCATTAAACCTATATCTAAGAGGAAAGTAATAACTGAAATAAAATCAGGAATGTGCAAAATTGTTTCTTCATACCTCACTTTCTGAAGACACTTCTTTGCATTCTGCTGCCTGGCATTTACACAGCAGACTCAGGACAAAGGGACAAATGGAGTGAGTGAGGTGGGCAGGAGCTTTAGAAGAGATGAAGCAAAGAGAGTTAGTTTTTTATTCAGGAAGATGTAGAGACTCTTAAAGGAGAGGCAATTTCCGTAACAAACACCTCTGGTTTAATGGAAGCCACATGATTTATTTGACTACTGGTCACTCATTTTTAAAAAGAAAAGAGAAAGACAAAAAAAGAGAAACCCTTCACAAGCCATTTTTAGTTTTCCTAGGAGGTAGTGCCAACCTCTCGGCAGCTGCACATCTCAGTGAAGCTGGGATAGAAGCTTACAGAGCTACAAATAGATGCTTTCTGAAGGTGGCAGATAGAACTAGTCTTGGTTACAATGATTAAGGTAAATGAAAGTGTCAGAACATCTGGGTTGAAGGAACAAAGAAGGCCCAATACCAGCTCTGCCATATGCCACAGAAAACCCTGCTAAAATTAGCATAGAAAAACAGACTAACACTATGCAAGTGATATTAAAACAAACTATATTTTTTCCTTTTATAACATGCCTGGCTGAGCTAGCATTCAGTGAGAAGAATATACTTTTGTCTTATGAATCATTTAAAAACATTTGTTGTTGTTCTGACATTAAATAAATTACATATTCCCTTAGTTGAAAAATTTAATCACAAATAATAGGAAATATTTATTTTGTGTCCTGAAATTTTTAAACTTTTGGCGGCTGTACTCTACGCCATATTCTTCTTCACATTCTTCTCAAATTGGGTTTGGCTGCTAGCAAAACAAGTGTGGAACTTTAGAGCAGAAAAATGTCCATCTGTCTCTTACAGAATGTGCCAGAGTATTTGAGCTGGAGAGAGAATCACCCCATAGCATTTAATGGTATTCTGTGAGACACGAAGACTCTAGTCTTCTAAACTTAAAAGTGGTTAGGTAGTACCTTAATCATCAAAGATTTTTCACTTACATGTAACTGGTTAATTCATATAGAGTTTGTTTAGAACAGAAACTTTAAAAGGAGGGAACAAACCTGAGCAATTTTTAATCAAAATTATCAGTTAGAAAAAGAATTTAAGACAAAGATTTATTGTCCTGAAAGAGTCAACTCACTCATATCCAAAACTTAGAATGTCAGAGACTTTTGAAAGTTTTCTGAATGTGTCAACTTCTTCAGCAATGAGAGATTCAATTAATGTTGTTTCTAGGTTCCTTAGAGTTTTATCCTCTGATGATAACACTTAATTGTGAATTACATTTAAGTGATTTTTACTTTATATTTTCCATTTGTTACAGAAAAAAAGTCATAAATATGACAGACTTAAAAATTGTGGCATTGAGCCAGGGTTTGCAAATTTGGCAATATTATTTTACTTAAAATATTACACTTTTTAAAATAACATAAACATTAAGGATAATAGTCAAATAATACTGTATTTTCAGCTTGTTCACATTAGAATATAGAACAACGCATTGTAAACTTCTCGGAATAAAATCTAAGTCAAAACCAATTTATGTTCAAATCATTTGAACAACAAATATGAATATTGTTACATCACCTCTGACTCTCTGACTAGTAAGAAACTATGCATTTCCATACCCAATGAAACCTCAATTCCTACAGCAATTCTACTTTTATTGCCTCCCAAGAACTATTTCTTCATGGTCAATATCACTCTTTAAAAGCTAGCAAAATATGACTTTCTTCTGAGGTTTGGGCAATCTGGATCAATATTTATGTATCTAACCACTTGAAAGGCTGTCTCCTTTTTTGGCCTTTTAAATTAAAACTTCCATAAAATGAAGCAAAATATGAAAACAGCTAGTTGATTTATCAATAATGTGAAACCCTCCTTCTGAATTTTTTTGGTAAAAATTACCACACTGAAACCAAAACTTAACCTTGGCTTGGACTCTCAGATAAATTGCTTTTGTATTCTTTGACTACAAAGTATTCTCAAAAAGAAGAAATTATTTCTGATGGTAGATCAAACTCTAGCCAAGAAGGTCTAGATAAACTAGAGGACTGTATAATTATCTAAAGTAATTCAGGGGGACTTTTAGAAAAATTCTTTAATTTTTGTTCCTGTGTAAAAATTATTATTAATGGATGGCAGCCCAAATTACTATTCTTCTTTTAAAATTTGTTTCAAGTGTGTCACCAGGCACTCATAAAATTCATTTATTTGTTATATAACTCAATGACCTGAAATAATAGGTGCTCATTGCTTTTTCATTTGATCCTTAAAAACAATTTTATTCTGTCTAAAAAAAATTCTCCTGCTAAAATCCAAATGATTACCTGGCTATAGGAGGAGTCCCATTTTATGAACATGTATGAAATATTTAGTTGGATTCAGATGAAATGCAACTTAGAGAAAGGAATGGATACCAGTAGAGAAGATGGAAAGAGACACAAAAATCAGACTTTGCTTACATCAAAATTAGGTCTGTTGTCTAATCCTGTTAACCTAGAGGCAAGCTGAAAATAGATGGTAAGGATAAATAGATTTTTAAACACAGTATTTATATTTAACAGAATGTCATAAAAATGACAGAATGCCATGAAATTCAGCATGTCAAAACTTTGATAAAACAAACAAGAAATTTAATAAATATGCTAATTAGAGTGAATATTTAAAGGGACAAAAATAACTTGTCACATCATAGATGTCTCCCCAGTGCAGAATTTATTATCTGCTGGGAAAATTTGGTTTTATGTCTTCAATCAATATTTGCTGCATTATCTAATTAAACATTAGTATATTTTTTGTGCTAATGAGAAACCATGCAAGAGTCCAAATATCAAGTGTGGTGACAGCTTGAATCAGTTGAGTTTGGTGTTCATGAATAAAATTCTTGATGAATGTGAAATGAATGGTTTATATACATAAGTTTTATGTGCAGTAAATTAATTAGGCTTTAAAACTTGTTAGCATGCTTAGCTCCTCTTTTTTCCATTGAATTATCTTCCTATCTTCCTTCCTTCCTTCCTTTCCTTCCTTTCCTTCCCTCCCTCTTTGCTTTATTTCTTTCTAGCTCTTATAAGATAAATGACAATAGTACTTTACTATTTGGGCTGGAGCCTCCCTTTTTCACTTTCACATGATTGAACACTTTGTGGATTTGTGAGAAAAGGGGAAAGAAGATGAGCACGTAGATGCAGATCAGTTGAGGATAGAAGTGACTGAGAGAATTGGGACCTTGACTTCCAGAGACTGTCAGTCAAGAGAAATGTGGGTCTATAAAAATCTATGTGTGTTCATTTTCATTGAATTTAAACACTTTTTCAAGAAGTATCAGGGTCAATCTGTTTGGACAATCTCCTATTTTTACCCCCTTACAAATGTCTTAAGTTAGAAAAACCTCTTATTTTCAAGTAGTCATTTTTTTTTATGTGAGTACCACACTGCTAAAGACTGAAATAGAAAAAAAAAATGCTTTTTCTGTTTGTAGGGAAATTGCTTTCTGAAAACTACTCCCAATAAGATGTATACATCAAATGCAACTTGATTTTACTGGCTCTTTATCTAGAGATAACTGATGCACTGTCTTCTTTCTTAGATACCCTTCTGTAATTCAGCTTGGCATAGTATGATGTTTTGAGTTCTTATTGAGGGTTTGGAAACATTTGTCATCAATTTTATGTCTACTCTATTGAAAAAGCAATATACAATGTATTCCATATTTCTTAGCTCTGTGTCTTTGAGGTTTTAAACCTATATTCAGATAGCTGTTTTTAGCTACAATTTTGAGTATTCACCAGAATTTACAAATTGCCATTTTATTAAATACAAAAAAAAAAAAAGTACAGCTTGGATCAAGAGATCAAACATTTACAAATCTCAATCCAAAGCCATTATTTTTCAGGGAAAATTAAATCATTTCTAGCAGAGTATTTGACTCCTAAGGGAAAATAAGTCAAATATCTTCTTTAAGAGTAAGGGCATTCTTCCATTGTAGGTATTTCTAATTGACTTTATAATAATTTGAACAAATCTTGAACAAGATTTAAAGAATTTATAATCTCCCAAACTTAAAATTGTATTCTTTCTGGTTTTTTATTTTTATGTATTAAGATTATATTCAAACCACTTAATTATCTTCATGACATAAGTTTGTGTTAATAGAAAATTATACAGAAAAAAACATGATTTGTTCCTCTGTGGAAAGATATGCTTCAATGAGTTAAATACCCTTGAATTTTGGTTCTCATTTCTTATTTGGACTTTTCTGTTATGTACCTCAGGGGTCTTAAATTCTAACAGATGAAGTAGTCAAAGGGGTATAAAATACTTGAAAAAAATTAAAACTTCAAAAGGGACGAATTTCTCTGTTAACTTTTGTTTATCCTATACTGACTTATTTTGAAATTGTGAAAAAACAGGCAGCTACCATATAAATTGGTATCTATGAAAATACTGATTACTTTCTTCCTGTGATTTTCACTGTTAAGAAAACCTTTGTCTTGAAATGATGGACAATCTTAATACTTGTTCAGATAAAGAAATGTGACTTTCAATACCTTTACCATTTGTATTTCTTTAGGGAAATATTTTAATAATGATTGTAAAAATAGAAGAAATATGGTTGAGAAAAATAGAAGAAATTAAGATGAAATTTGAACAGTTGTAATCCACAGTCCCATTTTTCCCTCTATTTTATTGCCTTCTACTAAGTTATTGAAGGCCCAGATCTGCAAAATTTACAAGCTACTAATTCATTGTCTCCTTTAAGAATTTGGAGCAAAAATTATTCCGACTATGCGGAAATGAATTCACATCATCATGGCAGGTTTTGACTATGAGGGAATTCAGGTTAGGTTCAAATAGAATAATGGTCCATGGAGAAAAATACTTTCTGATTTTTCTTCAAGTTGGATGGAAAGGTTTTTCTTTATTTAAAAAAAAAAAAAAAAAGTCCTCCTGAGAATTTTGCCTTCGAAAAAGAAGTTTTATAACAGCTGCCTGTAGCTACATTATAACTTCGGTAATTAAGTGACAAAACTGTCTCATTATGCTTTTAAAATACTGATTAAGTGCATTCCAGAAATAATACATATCATTCATTTCAAAATCAACCTACCTGAATTCTGACTCTTCAATCATGAGTAGCCATTTTACAAAACCAAAGGGTCTCATTTCCCAAACAGTACTTTAAATATCATCCTAATAGTAATATCCTAATAGTAATAATCCTATTAATACTCACTTCAATGCATAAAATAAACAGCCAATGCACTTCCATCAAGTCTGCAGGCACTATATAATAATAAATAGGTTTCCAAAATCACTTAATAAAAACACACAGTTATAATGTGCTCGGCCTTCATTAGCATCCTCTGCATGGGGTGGTTTTCATTTAACCTGAATTATTTTAACATTTTGGCTAATTTGTTTGCTGCAATTTCATGGGTCTAAATTTTTGGTTTGGTTTGCAATGTAAATCATATTGTATATCTGCTCCTTTGTTATTAGATTTACTTTGTGAATAATATCTTTTAAAAATTGAGTTATCAAAAACTTAAATTATAATGTCATCAACTAATACCAGGTAAATATACTAATATATATGTAGGGCATGATTAAATTGCATATATTTTGAAATGTCAAACTATTTTTTGTTTTTTTAAAAAAATGAATGCATCTCTTAAACCTGTACCATTAATTTTAAAAAAGTTTCATTTGGTATTTCATATTATATTTTAAAATATTTTTCTTTATCTAGTAGTACAGGTTTAAAGAAACTTTTTCTGATTGAAATGATAAAATATGCCTCATTTCACTAGAATTTTAAGAATAATACATGTAAAAGTATAACTCATATAAGATTATAAATATCCACAATATCTTCTTTGATTTTCATGTAACACCACTTTTTACTCATTCTTTTATTTGTTATTATTCGAAATCATTCACAATGTAAATAGCATGTTTCATGATGTAAAATGTCTTTGCATTTACAGACTGCAGAACAAGGTGAATTTGTATATGAAAAATAAGTGATGGAAACGTGGGATTCTTATAAAACAAAGTGGAAATGATAGTTCTGTGTTATATTTACATAATTCATTACAAAATTGTCTAGTTAAGTCATGCATTTATTTACCTTAAAAGTGTCCAAACTGTCACTTATAAAATATTTAAATCAATAAATAATACCAAAAAGGA)$ METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTLKTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQGKSWIVKRSYEDFRVLDKHLHLCIYDRRFSQLSELPRSDTLKDSPESVTQMLMAYLSRLSAIAGNKINCGPALTWMEIDNKGNHLLVHEESSINTPAVGAAHVIKRYTARAPDELTLEVGDIVSVIDMPPKVLSTWWRGKHGFQVGLFPGHCVELINQKVPQSVTNSVPKPVSKKHGKLITFLRTFMKSRPTKQKLKQRGILKERVFGCDLGEHLLNSGFE|gdgsqrtndpcsrikfhfifglsmcgqvg* 11CO052 ENSG00000086758.16 ENSG00000087253.13 -/- +/+ chrX:53535418 chr16:55545778 CDS CDS translocation 1 0 1 87 72 medium out-of-frame . Domain_of_Unknown_Function_(DUF908)(100%),Domain_of_Unknown_Function_(DUF913)(100%),Domain_of_unknown_function_(DUF4414)(100%),HECT-domain_(ubiquitin-transferase)(92%),UBA/TS-N_domain(100%),WWE_domain(100%)|EF-hand_domain_pair(100%) . . ENSG00000086758.16 ENSG00000087253.13 ENST00000262854.11 ENST00000262134.10 upstream upstream . ^(GACTGAGGGCTAGCGAGGGGAGCAGGGCTGGAGCAGGGCTGGAGCAGGGCTGGAGCAGGGCTGAAGCAGGGCTGAAGCAGGGCCGCGGACCCCGCACGCTCCTGCGGGCCCCGCGGAGCCATTGCGGCCGAG___GCCTCGGCAGGCGCCAGCGGAGAGCTAGCCGCATCTTCGGGGGCAGCCCGGCAGCTGCCGGCGGCGCGGCGAGAGAGCGGCTGACAGAGGGGATGCGAG___GTCCTCCAGCAGCCTGACCTGAGTGGGTTAGTGATCCAGAGAAACCAGCAGGCCAACTTGGTCAGGAAGGTTCGGGAAGCTGTTGGAGCAGTGTGGGGAATTTCCCACCAGGATGAGTATGATTGGCTGTGATTTTAG___ATCGTAAAGCTGAAAATTGAAATCATGAAAGTAGACAGGACTAAACTGAAGAAGACACCTACTGAGGCT___CCTGCAGACTGCAGAGCCTTAATAGACAAACTCAAAGTTTGTAATGATGAGCAACTTCTCTTGGAACTGCAGCAGATCAAAACATGGAACATTGGAAAG___TGCGAGTTATATCACTGGGTGGACCTGTTGGACCGCTTCGATGGAATACTGGCAGATGCTGGACAGACAGTGGAGAATATGTCATGGATGCTCGTATGTGATAGGCCAGAAAGAGAGCAACTGAAAATGCTTCTCTTGGCTGTGTTGAACTTCACAGCCTTGCTCATTGAGTACAGCTTTTCCCGGCATCTGTACAGTTCCATAGAG___CATTTGACAACTTTATTGGCTTCCTCTGATATGCAAGTGGTGCTGGCAGTCCTCAATCTCCTATATGTATTTAGCAAAAGATCAAACTACATCACTCGTCTGGGATCTGACAAGAGGACCCCGCTGCTAACTCGGCTACAACATTTGGCAGAG___AGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATG___AAATATCCACCCAGTGCAACTACACTACACTTTGAATTCTATGCAGATCCTGGGGCCGAGGTCAAAATTGAGAAAAGG___ACAACTAGTAACACACTACATTATATTCACATAGAGCAACTTGACAAG___ATTTCAGAAAGCCCTTCTGAAATCATGGAATCTCTTACCAAAATGTACAGCATTCCTAAGGATAAGCAG___ATGCTGTTATTTACACACATACGACTGGCCCATGGCTTTTCTAATCACAGGAAGCGATTGCAGGCAGTTCAGGCCAGACTGCATGCAATATCTATATTAG___TGTATTCCAATGCCTTGCAGGAATCAGCAAACAGTATCTTGTATAATGGCTTGATAGAGGAGTTGGTAGATGTCCTTCAGATAACGGATAAGCAGCTTATG___GAGATTAAAGCAGCTTCTTTACGAACATTAACATCAATTGTCCACTTGGAGAGAACTCCCAAACTCAGCAGTATTATTGACTGTACTGGAACTGCCTCCTACCATGGATTTTTGCCAGTGCTTGTAAGGAACTGTATCCAGGCCATGATTG___ATCCTTCCATGGATCCATACCCTCACCAGTTTGCCACTGCTCTCTTCTCTTTTTTATACCATCTGGCCAGCTACGATGCTGGTGGTGAAGCCTTGGTCTCCTGTGGAATGATGGAAGCCTTATTGAAG___GTCATAAAGTTTCTTGGCGATGAACAGGACCAGATAACATTTGTCACCAGAGCCGTCAGAGTGGTTGACCTTATCACCAACCTGGATATGGCAGCTTTTCAATCCCATAGTGGACTTTCTATCTTCATTTATAGACTTGAG___CATGAAGTAGATTTGTGCCGAAAAGAATGTCCGTTTGTGATCAAGCCAAAGATCCAGAGACCCAATACTACACAAGAAGGAGAGGAAATGGAAACTGATATGGATG___GAGTCCAGTGTATTCCACAACGAGCAGCACTTCTGAAATCCATGTTGAATTTCCTCAAGAAGGCCATCCAAGACCCTGCTTTCTCAGATGGCATACGACATG___TGATGGATGGTTCTCTGCCTACCTCCCTGAAACACATCATCAGCAATGCAGAATACTATGGCCCATCACTCTTCCTCCTAG___CTACTGAAGTGGTGACTGTGTTTGTATTTCAAGAACCATCACTGCTCTCCTCACTCCAGGACAATGGATTGACAGATGTCATGCTGCATGCACTGCTTATCAAAGAT___GTTCCTGCTACCCGTGAAGTCCTTGGCTCCCTCCCAAATGTATTCAGTGCACTCTGTTTGAATGCCCGAGGTCTTCAGTCTTTTGTTCAGTGTCAGCCTTTTGAACGCCTCTTCAAAGTTCTTCTGTCTCCAGATTACCTCCCAGCCATGCGGAGGAGGAGAAGTTCTGATCCCCTTG___GGGATACTGCATCCAACCTGGGGAGTGCTGTCGATGAGCTCATGAGACATCAGCCCACCCTTAAAACAGATGCAACGACTGCCATCATCAAG___TTACTTGAAGAAATCTGTAATCTTGGAAGGGACCCCAAATACATCTGTCAGAAGCCATCAATCCAGAAGGCAGATGGCACTGCCACTGCTCCTCCCCCAAGGTCTAATCATGCCGCAGAAGAAGCCTCTAGTGAGGATGAGGAGGAAGAGGAAGTACAGGCCATGCAGAGCTTTAATTCTACCCAGCAAAATGAAACTGAGCCTAATCAGCA___GGTTGTTGGTACAGAGGAACGTATTCCTATTCCCCTCATGGATTACATCCTTAATGTG___ATGAAATTTGTGGAATCTATTCTGAGCAACAATACAACAGATGACCACTGCCAGGAATTTGTGAATCAGAAAGGACTGTTGCCTTTGGTTACCATTTTGGGTCTTCCCAATCTGCCCATTGACTTTCCCACATCTGCTGCCTGTCAGGCTGTTGCAGGTGTCTGCAAATCCATATTG___ACACTGTCACATGAACCCAAAGTCCTTCAAGAGGGTCTCCTTCAGTTGGACTCCATCCTCTCCTCCCTGGAGCCCTTACACCGCCCCATTGAATCCCCTGGGGGCTCAGTGTTGTTGCGAGAACTGGCTTGCGCAGGCAATGTTGCTGATGCTACCCTCTCAGCCCAGGCCACACCTCTGCTGCATGCACTCACTGCTGCCCATGCCTACATCATGATGTTTGTTCATACTTGCAGAGTTGGACAG___AGTGAAATTCGTTCCATCTCCGTAAACCAGTGGGGCTCTCAATTGGGTCTGAGTGTTTTGAGCAAGCTGAGCCAGTTATACTGTTCCCTGGTGTGGGAAAGCACTGTCCTCCTCTCTCTGTGTACCCCAAACAG___CCTACCATCTGGGTGTGAATTTGGCCAGGCAGATATGCAGAAACTGGTTCCAAAGGATGAGAAGGCAGGTACGACCCAGGGCGGAAAAAGATCAG___ATGGGGAACAGGATGGAGCAGCTGGAAGTATGGATGCTTCTACCCAGGGCTTATTAGAAGGCATTGGGCTAGATGGTGACACATTGGCTCCCATGGAGACAGATGAACCTACTGCTTCAGACTCTAAGGGCAAATCTAAAATCACACCAGCAATGGCTGCCAGAATTAAGCAAATCAAGCCTTTGTTATCAG___CTTCCTCCAGATTAGGCCGAGCACTTGCTGAGCTATTTGGACTTCTTGTTAAACTTTGTGTGGGATCTCCTGTCCGCCAGAGAAGGAGCCATCATGCTGCCAGCACCACTACAGCACCGACACCTGCCGCGCGATCAACAGCCTCAGCTCTCACTAAGCTCTTGACTAAGGGGTTATCTTGGCAGCCCCCACCATATACACCTACTCCCCGATTCAG___GCTGACATTCTTCATCTGTTCAGTTGGTTTCACATCCCCAATGCTGTTTGATGAGAGGAAGTATCCCTACCACCTCATGCTGCAAAAATTTCTCTGCTCCGGAGGCCACAATGCTCTTTTTGA___AACTTTCAACTGGGCTCTGTCCATGGGAGGTAAAGTTCCTGTTTCTGAGGGATTGGAACACTCAGACTTGCCTGATGGCACAGGAGAATTCCTAGATGCCTGGCTTATGCTGGTGGAGAAGATGGTGAATCCCACCACGGTGCTTGAATCTCCACATTCGCTGCCTGCCAAATTGCCTGGAGGTGTCCAGAACTTTCCCCAGTTCAGTGCACTGCGCTTCCTTGTGGTAACTCAGAAA___GCAGCCTTTACTTGCATCAAAAACTTATGGAACCGGAAACCCCTGAAGGTATATGGTGGACGAATGGCTGAATCGATGCTGGCCATTCTATGCCACATCCTCCGAGGAGAACCTGTGATTCGAGAGAGACTAAGCAAGGAGAAGGAGGGGTCTCGAGGAGAAGAGGATACAGGGCAAGAGGAAGGTGGCTCCCGCCGGGAACCTCAAGTCAACCAGCAACAACTGCAACAG___CTCATGGACATGGGCTTCACAAGGGAACATGCAATGGAGGCACTGTTGAACACCAGCACCATGGAGCAGGCCACAGAGTACCTTTTAACCCACCCTCCTCCAATCATGGGAGGAGTTGTTCGG___GATCTCAGCATGTCTGAAGAGGACCAGATGATGAGAGCAATTGCTATGTCTCTGGGACAGGATATTCCAATGGATCAAAGGGCAGAGTCACCTGAG___GAAGTTGCTTGCCGGAAGGAGGAAGAGGAACGGAAAGCTCGGGAAAAGCAGGAGGAGGAAGAGGCTAAATGTCTAGAGAAGTTCCAGGATGCTGACCCGTTGGAACAAGATGAGCTCCACACTTTCACAGATACTATGTTGCCAGGCTGCTTCCACCTTCTTGATGAGCTGCCAGACACAGTATACCGTGTGTGTGACCTGATCATGACAGCAATCAAACGTAATGGAGCAGATTATCGTGACATGATTCTGAAGCAAGTAGTCAATCAG___GTGTGGGAAGCTGCTGATGTATTGATCAAAGCTGCTCTTCCCCTGACAACAAGTGACACAAAAACCGTGTCAGAGTGGATAAGTCAGATGGCCACACTGCCCCAGGCCTCCAATTTGGCTACTAGAATCTTGCTTTTAACGCTACTTTTTGAG___GAGTTGAAGCTACCTTGTGCTTGGGTGGTTGAATCAAGTGGCATCCTTAATGTCCTAATCAAACTCTTGGAAGTGGTTCAGCCCTGCCTCCAGGCAGCCAAGGAGCAGAAGGAAGTCCAGACCCCAAA___GTGGATCACACCAGTGTTGCTCCTGATTGATTTCTATGAAAAGACAGCCATCTCCTCAAAAAGGAGAGCCCAGATGACTAAG___TACCTGCAATCCAACAGCAACAACTGGCGCTGGTTTGATGATCGCTCTGGGCGTTGGTGTAGTTACAGTGCAAGCAACAATAGCACTATTGATTCTGCCTGGAAATCTGGAGAGACAAGCGTGCGATTCACTGCAGGCCGAAGAAGATACACGGTCCAATTCACTACAATGGTGCAG___GTTAATGAGGAAACAGGGAACCGACGCCCTGTGATGCTGACTCTCCTCAGGGTACCTCGGCTGAATAAAAATTCAAAAAACAGCAATGGACAGGAACTAGAGAAGACGCTGGAAGAAAGCAAAGAAATGGATATCAAACGTAAAGAAAATAAAGGCAATG___ATACCCCTTTGGCCCTAGAGAGTACAAACACTGAAAAGGAGACAAGCCTGGAGGAAACAAAAATCGGGGAGATCCTGATCCAGGGCTTGACAGAAGATATGGTGACTGTTTTAATCCGGGCCTGCGTGAGCATGCTGGGAGTCCCTGTGGACCCAGATACTTTGCATGCCACCCTTCGTCTCTGTCTGAGGCTCACCCGGGACCACAAATATGCCATGATGTTTGCAGAACTGAAGAGTACCCGCATGATCTTGAATTTGACCCAGAGCTCAGGCTTCAATGGGTTTACTCCCCTGGTCACCCTTCTCTTAAGACACATCATTGAGGACCCCTGTACCCTTCGTCATACCATGGAAAAG___GTTGTTCGCTCAGCAGCTACAAGTGGAGCTGGTAGCACTACCTCTGGTGTTGTGTCTGGCAGCCTCGGCTCTCGGGAGATCAACTACATCCTTCGTGTCCTTGGGCCAGCCGCATGCCGCAATCCAGACATATTCACAGAAGTGGCCAACTGCTGTATCCGCATCGCCCTTCCTGCCCCTCGAGGCTCAGGAACTG___CTTCAGATGATGAATTTGAGAATCTTAGAATTAAAGGCCCTAATGCTGTACAGCTGGTGAAGACCACCCCTTTGAAGCCCTCACCTCTGCCTGTCATCCCTGATACTATCAAGGAAGTGATCTATGATATGCTGAATGCTCTGGCTGCATACCATGCTCCAGAGGAAG___CAGATAAATCTGATCCTAAACCTGGGGTTATGACCCAAGAGGTTGGCCAGCTCCTGCAAGACATGGGTGATGATGTATACCAGCAGTACCGGTCACTTACGCGTCAGAGCAGTGACTTTGATACGCAGTCAGGTTTTTCCATTAAT___AGTCAGGTCTTTGCTGCAGATGGTGCCTCCACTGAGACTTCCGCATCTGGGACCTCCCAAGGAGAGG___CTTCAACTCCAGAGGAGTCTCGAGATGGGAAGAAAGATAAAGAAGGGGACCGGGCCTCTGAGGAAGGCAAACAGAAAGGCAAGGGCAGCAAACCTTTAATGCCTACCTCCACTATCCTTCGTCTTCTGGCAGAGTTGGTGAGGTCCTATGTTGGTATTGCTACCCTGATTGCCAACTACAGCTACACTGTGGGCCAGTCTGAACTGATCAAAGAG___GACTGCAGTGTGCTAGCTTTTGTTCTGGACCACCTGCTCCCACATACCCAGAATGCAGAAGACAAGGACACCCCTGCCTTGGCCCGCCTGTTCCTCGCAAGCCTGGCTGCTGCAGGGAGTGGCACAGATGCCCAGGTGGCCCTAGTGAATGAAGTAAAAGCAGCCCTTGGACGGGCACTGGCTATGGCTGAGAGTACAGAGAAACATGCCAG___GCTTCAGGCAGTGATGTGTATCATCAGTACTATCATGGAGTCCTGCCCCTCCACCTCCAGCTTCTACAGCAGTGCCACAGCGAAGACCCAGCACAATGGCATGAACAACATCATTCGGCTTTTCCTGAAGAAGGGACTGGTTAATGACCTGGCCAGAGTACCTCACAGCTTAGACCTGTCCAG___TCCCAACATGGCCAACACAGTCAATGCTGCTCTGAAGCCTTTGGAAACACTTTCCCGGATTGTGAACCAGCCCAGTAGCCTTTTTGGCAGCAAGAGTGCTTCTAGCAAGAACAAGTCTGAGCAGGATGCCCAAGGAGCCTCTCAAGATTCCAGTAGCAACCAGCAGGACCCAG___GCGAGCCTGGGGAAGCAGAAGTGCAGGAGGAGGATCATGATGTCACTCAGACAGAGGTGGCAGATGGGGATATCATGGATGGGGAGGCTGAAACCGACTCAGTGGTGATTGCTGGGCAGCCTGAGGTGCTCAGTTCACAAGAGATGCAG___GTTGAGAATGAGCTGGAGGACCTGATAGATGAGTTGCTTGAGAGGGATGGCGGATCTGGGAACAGTACAATTATAG___TGAGCAGAAGTGGAGAGGATGAATCACAAGAGGACGTGCTGATGGATGAAGCTCCTTCCAACCTCAGCCAAGCTTCCACCTTGCAGGCCAACCGAGAAG___ATTCCATGAATATCCTGGACCCTGAGGATGAGGAGGAGCACACTCAGGAAGAGGACAGCAGTGGCAGTAACGAGGATGAGGATGATAGTCAGGATGAAGAGGAGGAGGAGGAGGAAGATGAGGAAGATGATCAG___GAGGATGATGAAGGTGAAGAGGGAGATGAAGACGATGACGACGATGGCTCTGAGATGGAATTGGATGAGGATTATCCTGATATGAACGCTTCTCCCTTGGTCCGATTTGAGCGCTTTGACCGGGAGGATGATCTCATCATTGAGTTTGACAACATGTTCTCCAGTGCTA___CAGACATCCCCCCATCCCCAGGAAATATCCCTACCACCCATCCACTGATGGTGCGCCATGCAGACCACAGTTCTCTGACACTGGGCAGTGGCTCTTCAACAACTCGTCTCACCCAGGGCATCGGGCGCAGTCAGAGGACCCTAAGGCAGCTGACGGCCAATACTGGCCACACCATTCATGTTCACTACCCTGGGAATCGCCAGCCCAACCCTCCTCTTATACTGCAGAG___GTTGCTTGGTCCCTCAGCTGCTGCTGACATCCTTCAGCTGAGCAGCAGCCTTCCCCTACAAAGCCGGGGTCGGGCCCGCCTCCTGGTAGGCAACGATGACGTCCACATCATCGCCCGTTCTGATGATGAGCTGCTGGATGACTTTTTCCATGATCAGAGCACAGCTACCAGCCAAGCAG___GAACCCTGTCCAGCATCCCCACAGCCCTGACCCGCTGGACAGAAGAATGCAAAGTTCTCGATGCTGAGAGCATGCATGACTGTGTTTCAG___TGGTTAAAGTGTCCATTGTCAATCACCTGGAATTCCTGAGGGATGAGGAGCTGGAAGAAAGGCGAGAGAAGCGCAGGAAACAACTGGCTGAGGAAGAAACAAAGATAACTGATAAAGGCAAAGAAGATAAGGAGAACAGGGATCAGAGTGCACAG___TGTACTGCATCTAAGTCAAATGACTCCACTGAACAGAATCTCTCAG___ATGGGACGCCTATGCCTGACAGCTACCCAACAACCCCATCTTCAACTGATGCAGCTACATCTGAGTCCAAGGAGACCCTTGGCACTCTGCAATCCTCACAACAGCAACCAACACTCCCAACCCCACCAGCTTTGGGAGAGGTTCCTCAGGAGCTGCAGTCTCCAGCTGGAGAAGGGGGCAGCTCTACACAGCTATTGATGCCTGTAGAGCCAGAGGAATTGGGTCCCACAAGGCCAAGTGGGGAAGCAGAAACAACTCAGATGGAGTTATCCCCAGCTCCCACTATAA___CCTCACTTTCCCCAGAGAGAGCTGAGGATTCTGATGCACTGACGGCTGTCAGCAGTCAGCTAGAAGGCTCTCCTATGGATACAAGCAGCCTGGCTTCCTGTACCTTAGAGGAGGCTGTGGGTGACACTTCAGCAGCTGGCAGTTCTGAGCAGCCCAGAGCAGGCAGCTCCACTCCTGGGGATGCCCCACCAGCTGTGGCGGAAGTGCAAGGCAGGAGTGATGGGTCAGGGGAATCTGCCCAGCCACCTGAGGACAG___CTCCCCACCTGCATCCTCTGAGAGCTCTTCCACCAGAGATTCTGCCGTGGCCATTTCTGGAGCAGATTCCCGAGGAATCCTAGAAGAGCCGTTGCCTTCAACAAGCAGTGAAGAAGAAGATCCCCTTGCGG___GTATCAGTCTCCCTGAAGGTGTGGACCCCTCTTTTCTGGCTGCCCTGCCTGATGACATCCGTCGGGAAGTTCTACAGAACCAGCTAGGCATTCGTCCACCAACCCGGACTGCCCCCTCCACAAATAGCTCAGCGCCTGCAGTGGTGGGGAATCCTGGTGTGACTGAAGTGAGCCCTGAGTTTCTGGCTGCCCTGCCTCCAGCCATTCAGGAGGAA___GTACTGGCACAGCAGAGAGCTGAGCAGCAGCGACGAGAACTAGCACAGAATGCCAGCTCAGACACCCCTATGGACCCTGTGACCTTCATCCAGACTCTGCCCTCAGACCTGCGCCGTAGTGTCCTAGAGGATATGGAGGACAGTGTGTTAGCTGTGATGCCACCTGACATTGCAGCTGAGGCTCAAGCCCTGAGACGAGAGCAAGAAGCCCGGCAGCGACAGCTCATGCATGAGCGTCTGTTTGGGCACAGTAGCACCTCCGCACTCTCTGCTATTCTCCGAAGCCCGG___CTTTCACCAGTCGCTTAAGTGGCAACCGTGGGGTCCAGTATACTCGCCTTGCTGTGCAGAGAGGTGGCACCTTCCAGATGGGGGGTAGCAGCAGCCATAACAG___GCCTTCTGGCAGTAATGTAGATACTCTCCTCCGCCTCCGAGGACGGCTCCTTCTGGACCACGAAGCCCTTTCTTGTCTCTTGGTCCTACTTTTTGTGGATGAGCCAAAGCTCAATACTAGCCGTCTACACCGAGTACTGAGAAATCTCTGCTACCATGCCCAGACCCGCCACTGGGTCATCCGCAGTCTGCTCTCCATCTTGCAGCGCAGCAGTGAGAGTGAGCTATGCATTGAAACACCCAAACTCACTACAAGTGAGGAAAAGGGCAAAAAGTCGAGCAAGAGCTGTGGGTCAAGTAGCCATGAGAACCGTCCCCTGGACCTGCTACACAAGATGGAGTCAAAGAGCTCCAACCAGCTTTCCTGGCTCTCAGTATCCATGGATGCAGCCCTAGGCTGCAGGACTAATATATTTCAGATCCAGCGTTCAGGGGGGCGTAAACATACCGAGAAGCATGCAAGCGGTGGCTCCACCGTCCACATCCATCCCCAAGCTGCTCCTGTTGTCTGCAGACACGTTTTGGATACACTCATTCAATTGGCCAAG___GTATTTCCCAGCCACTTCACACAGCAGCGGACCAAAGAAACAAACTGTGAGAGTGATCGGGAAAGGGGCAATAAGGCCTGTAGCCCATGCTCCTCACAGTCCTCCAGCAGTGGCATTTGCACAGACTTCTGGGACTTATTGGTAAAACTGGACAACATGAATGTCAGCCGGAAAGGCAAGAACTCCGTGAAGTCAGTGCCAGTGAGCGCTGGCGGTGAGGGGGAAACCTCTCCATACAGCCTCGAGGCCTCTCCACTGGGGCAGCTCATGAACATGTTGTCACACCCAGTCATCCGCCGGAGCTCTCTCTTAACTGAGAAACTCCTCAGACTCCTTTCTCTCATCTCAATTGCTCTCCCAGAAAACAAGGTGTCAGAAGCACAGGCTAATTCTGGCAGCGGTGCTTCCTCCACCACCACTGCCACCTCAACCACATCTACCACCACCACCACTGCCGCCTCCACCACGCCCACACCCCCTACTGCACCCACCCCTGTCACTTCTGCTCCAGCCCTGGTTGCTGCCACGGCTATTTCCACCATTGTCGTAGCTGCTTCGACCACAGTGACTACCCCCACGACTGCTACCACTACTGTTTCAA___TTTCTCCCACTACTAAGGGCAGCAAATCTCCAGCGAAGGTGAGTGATGGGGGCAGCAGCAGTACAGACTTTAAGATGGTGTCCTCTGGCCTCACTGAAAACCAGCTACAGCTCTCTGTAGAG___GTGTTGACATCCCACTCTTGTTCTGAGGAAGGCTTAGAGGATGCAGCCAACGTACTACTGCAGCTCTCCCGGGGGGACTCTGGGACCCGGGACACTGTTCTCAAGCTGCTACTGAATGGAGCCCGCCATCTGGGTTATACCCTTTGTAAACAAATAG___GTACCCTGCTGGCCGAGCTGCGGGAATACAACCTCGAGCAGCAGCGGCGAGCCCAATGTGAAACCCTCTCTCCTGATGGCCTGCCTGAGGAGCAGCCACAGACCACCAAGCTGAAGGGCAAAATGCAGAGCAG___GTTTGACATGGCTGAGAATGTGGTAATTGTGGCATCTCAGAAGCGACCTTTGGGTGGCCGGGAGCTCCAGCTGCCTTCTATGTCCATGTTGACATCCAAGACATCTACCCAGAAGTTCTTCTTGAGGGTACTACAGGTCATCATCCAGCTCCGGGACGACACGCGCCGGGCTAACAAGAAAGCCAAGCAGACAGGCAGGCTAG___GTTCCTCCGGTTTAGGCTCAGCTAGCAGCATCCAGGCAGCTGTTCGGCAGCTGGAGGCTGAGGCTGATGCCATTATACAAATGGTACGTGAGGGTCAAAGGGCGCGGAGACAGCAACAAGCAGCAACG___TCGGAGTCTAGCCAGTCAGAGGCGTCTGTCCGGAGGGAGGAATCACCCATGGATGTGGACCAGCCATCTCCCAGTGCTCAAGATACTCAATCCATTG___CCTCCGATGGAACCCCACAGGGGGAGAAGGAAAAGGAAGAAAGACCACCTGAGTTACCCCTGCTCAGCGAGCAGCTGAGTTTGGACGAGCTGTGGGACATGCTTGGGGAGTGTCTAAAGGAACTAGAGGAATCCCATGACCAGCATGCGGTGCTAG___TGCTACAGCCTGCTGTCGAGGCCTTCTTTCTGGTCCATGCCACAGAGCGGGAGAGCAAGCCTCCTGTCCGAGACACCCGTGAGAGCCAGCTGGCACACATCAAGGACGAGCCTCCTCCACTCTCCCCTGCCCCCTTAACCCCAGCCACGCCTTCCTCCCTTGACCCATTCTTCTCCCGGGAGCCCTCATCTATGCACATCTCCTCAAGCCTGCCCCCTGACACACAGAAGTTCCTTCGCTTTGCAG___AGACTCACCGCACTGTGTTAAACCAGATCCTACGGCAGTCCACGACCCACCTTGCTGATGGGCCTTTTGCTGTCCTGGTAGACTACATTCGTGTCCTCGACTTTGATGTCAAGCGCAA___ATATTTCCGCCAAGAGCTGGAGCGTTTAGATGAGGGGCTCCGGAAAGAAGACATGGCTGTGCATGTCCGTCGTGACCATGTGTTTGAAGACTCCTATCGTGAGCTGCATCGCAAATCCCCCGAAGAAATGAAGAATCGATT___GTATATAGTATTTGAAGGAGAAGAAGGGCAGGATGCTGGTGGGCTCCTGCGGGAGTGGTATATGATCATCTCTCGAGAGATGTTTAACCCTATGTATGCCTTGTTCCGTACCTCACCTGGTGATCGAGTCACCTACACCATCAATCCATCTTCCCACTGCAACCCCAACCACCTCAGCTACTTCAAGTTTGTCGGACGCATTGTGGCCAAAGCTGTATATGACAACCGTCTTCTGGAGTGCTACTTTACTCGATCCTTTTACAAACACATCTTGGGCAAGTCAGTCAG___ATATACAGATATGGAGAGTGAAGATTACCACTTCTACCAAGGTCTGGTTTATCTGCTGGAAAATGATGTCTCCACACTAG)GCTATGACCTCACCTTCAGCACTGAG___GTCCAAGAGTTTGGAGTTTGTGAAGTTCGTGACCTCAAACCCAATGGGGCCAACATCTTGGTAACAGAGGAGAATAAGAAGGAG|CTGTCCTTTTTGCCAATAAAGTCCGGAATTTAATGGCAGA___AGCTCTGGGAATACCAGTAACAGATCATACCTATGAAGACTGCAGATTGATGATTTCAGCAGGAC(AGCTAACATTGCCTATGGAAGCTGGGCTGGTGGAATTTACTAAAATTAGCCGAAAATTGAA___ATTAGATTGGGATGGTGTTCGTAAGCATTTGGATGAATATGCATCTATTGCGAGTTCCTCAAAAGGAGGAAGAATTGGAATTGAAGAATTCGCCAAGTATTTAAAGTTGCCTGTTTCAGATGTCTTGAGACAACTTTTTGCACTCTTTGACAGG___AACCATGATGGCAGCATTGACTTCCGAGAGTATGTGATTGGCCTGGCTGTCTTGTGCAACCCTTCCAACACAGAGGAGATCATCCAGGTGGCATTTAAG___CTGTTTGACGTTGATGAGGATGGCTACATAACGGAGGAAGAGTTCTCCACCATTCTACAGGCTTCCCTTGGAGTGCCTGACCTTGATGTTTCTGGTCTCTTCAAGGAAATAGCCCAAGGGGACTCAATTTCCTATG___AGGAATTTAAAAGTTTTGCCTTAAAGCATCCAGAATATGCTAAGATATTTACAACATACCTAGACCTCCAGACGTGCCATGTGTTTTCATTACCAAAAGAAGTCCAGACAACCCCCTCCACCGCCAGTAATAAAGTCAGCCCTGAAAAGCATGAAGAGAGTACCTCAGACAAAAAAGATGACTGAAAGCAGTATTTCCAATAAGGAAAACACAGTAGCTTTTGCTTGAAATTGTAAAGGCACTTATTGATAATACTTTTAATGTGTTGGTAATGATGTTTAAAATTGAAAGATTTTTAAAACAAAAATGATAGATTTTCTTACTAAAAATGTTTTTATTAACCTTGCTTTTATTGGAAAAAATCAAGCAATATTTCGTTTTCTTTTGTGTTATATTGTACTTTACTGATTCATTTACTGGTGATACATATGTTTTTATGGATTTTCCAGTTTAATTTGCATATACAAATGAATGCAATGGTCTATTGGTGAGCATTGAGCAACACTGTATAAAGTTTTAAAAATGTAAACACTTTTTAATCTACTTTCCTCTAAAAATCAATAATATTCTATTATTTCTAATCCTTTTCCACTTGGGAAATAACAATGAAGAATCTGAGAATTTGACATCTATAACTTTACAGATTCATTTTTCCATTTAAATTTCAGTTTCTTGGATCACTGAATATGGGAAGGGAGAGCTTCACTAATTAGACGCAGCTTCTTAAGAACTTATATTCTCTTTGACATACATCTCTATTGTAGTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCGTACCTCAGACTCCCGAGTAGTTGGGATTACAGGTGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGCCATGTGGTTTTGCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTTCCCGGCCTATTGTAGATTTTCTTAACTACTTGCTAAGGAAATCATATCCTTTTACATGAACTACAGGTTTAGAACTTGGTTTTAAGACAACTGCTATGGCCAGAAGGTAAATGGGAATTGCCTTATTGAAGGTAACATTGATTGCCTAATAAGAAAATGAATTGTTTGCCACAGAGTTGAATTTAATTTGAGTTAGATAGTTCAGAATGTAGCACTTGCCCTATAAATGAATCAGATTTGTTCTATTTATATAATATTAGAATTAATATATTATCATGTAAGTGGGAATTTTATTTTGTTAAGTGGACTCTCAAATTTTAGAACTTGTGTGAAATATCTCCCAGAAAACACAAAAGGTTTCAAGGTATCACCCAAAGCTAGGGAATCAACAAACGTACTTTATTAATGCAAGACCACAATTTAAGCCCCAGGCAGGAATCCAACAGTAACATTTTTCCTTTAGGTTAAGCAGTAATTTTTTTGAATTGTCATTTTTAATGGGTCTCACACATGCATATTGCTAATATCATTCATGTTTGAGGTTTTCAACAAAGAACCAATTTATTAATATAATGTACAAAAATAGTTGGTTCATTTTCTGAATTCAGTCTTTGAAATAAAACTCCTTGTTTTGGCCGTGTTTCTGAATGTATTGGTGATTCACCCCCAAGCTAATTTTTTAAAGTCATTTTTGAAGTTGGGAAGTCTCATGAGAGATGTTGAAGTATGTATTTAATCAAGAGTCATGATTTCAAACTAGTTTTACATATTAAGCAGTTAGTGTTCTAATTTAATGGGTAAATGTGTGTTTGGATAAATATCTGAAAATTTTATCCTTAAGTATATATAATTATTTGCCTCTTATATGTCTTAAAGCTATTTAAACAAGGTGTTAAATGAGCCAAAACAATTAAGTAATTAGAACAGTACATTTTTATCAGAGTGTCTGTCATATGCAATGAATGTATGTAATACTAAAAAATCATGACTACTTTTATCAAAGAAAAACCACACATTAATCCTATTAATCATGAAAGCGTAGCATTGTAAATTAAAGGTTTTCTTTGAGGCTCTTGAAAGTGATCCCATTGCTTTCCTGTTTTAAAAATATTTTATGCTCTTTATTTCCACTTCTGTGAATGTGATATTTCTATTTTGTGATTATGTTACTGAATAAACAAACTTGCTACATAAAATTCTTAGCAATTAAAAAAATTCTGATTCTGCCATTTTGTCTCAAATGTAATATACCCTTTTAATATCATATGTTTACATATTTATGAATGATTAATCATTTTTGTTTGCATTAAACTTTATGAAATGTCAGAAATGATTTTACTCTAATGAAACTCAAATTTTGCCCAAAGTAGCAATATTCTTAAAGATGTTGAATTTTGACTGGTTGAATTTTATATAGTAACACACAAGTCGTGATCATCAATATTATTGCAGACCAGGACTCTGCTTATATGCCTTGCTAACAAAGATTTCTTTCACAGAGGCTTTTCTCCTCTCAAGACTTAAAGTAAGAATTACATTTTATTAAGTCAGTTAAATGCACCATGGCTTCATATAGTAATATAAAAAAACTCTTTGAAGTGAGAAATATTATATCCTAAAACCTCTAAACCACAAACATTCAATTGAAAGAGTTCTGTTGAAGGATAATGACATACTGACTGCTTACAGACCAAGTTGCTTGCATTTTGTATGTTTAGCCCTCCTTTGCCACTGCTTTTAGAGCCTTGGAAGGCTAAGTGTGATAGTAATGCTAGCTCTAATGCATATTTAAAGGAGACTGCCTCGCTTTTAGAAGACATCTGGTCTGCTCTCTGCATGAGGCACAGCAGTAAAGCTCTTTGATTCCCAGAATCAAGAACTCTCCCCTTCAGACTATTACCGAATGCAAGGTGGTTAATTGAAGGCCACTAATTGATGCTCAAATAGAAGGATATTGACTATATTGGAACAGATGGAGTCTCTACTACAAAAGTCTTTGGGTATTTGTTTCTTACATAGAAAATGCTAACATGAATAGAAAGATACTGGTGCAAGACCATTCCCGGGAAAGTAGACATACTTACATTTTTTTCCTTTTCTGCTCATTTGAATGAACTCAATTTTATGTTAAATTGTTATATCAGAGTGACAAATAAGTGCTATGGCTTGATAGAAGTGAAGCTCTTCACATATATTCAAAATACATATCACAAACTTTGGTAAATAGGATAGTAATCTGAAGAACTTTTGCCCTTTTTACCCCATTTACTGTAACTCTTGTTTCTAGGTAATCGTTCTCTCTCAACAAACTTCTCAAGCGTCTGTGTAACAAGCCACATGTTCTAACAAATTGTCTCCATCGCACTTCAACAGCCAGGTCCCTATTTTTTATAACGTATTAACCTTATTATTTTCTTATTATTTTAAAAGAATCTATGCACATTAGCAAAATTTAAAAGATAGAGAAAAATATAAACAGAAAAAATTATGTTTACTTCTACCACCCTAAATCAACTATTATCAATTTTATACATATTTTACTCCATCTTTTTTCAAAGTTTCTTACATTTTCCAATGTCATTAAAATTCTCTGTGAATGTAAATTTTAAAAACTGTACCTACTGTTTTTTGGAAATCTGTAACAAGCTATGTGTAATCATTCTTCTAATATTAAACATATTGTGTCCAGAA)$ MKVDRTKLKKTPTEAPADCRALIDKLKVCNDEQLLLELQQIKTWNIGKCELYHWVDLLDRFDGILADAGQTVENMSWMLVCDRPEREQLKMLLLAVLNFTALLIEYSFSRHLYSSIEHLTTLLASSDMQVVLAVLNLLYVFSKRSNYITRLGSDKRTPLLTRLQHLAESWGGKENGFGLAECCRDLHMMKYPPSATTLHFEFYADPGAEVKIEKRTTSNTLHYIHIEQLDKISESPSEIMESLTKMYSIPKDKQMLLFTHIRLAHGFSNHRKRLQAVQARLHAISILVYSNALQESANSILYNGLIEELVDVLQITDKQLMEIKAASLRTLTSIVHLERTPKLSSIIDCTGTASYHGFLPVLVRNCIQAMIDPSMDPYPHQFATALFSFLYHLASYDAGGEALVSCGMMEALLKVIKFLGDEQDQITFVTRAVRVVDLITNLDMAAFQSHSGLSIFIYRLEHEVDLCRKECPFVIKPKIQRPNTTQEGEEMETDMDGVQCIPQRAALLKSMLNFLKKAIQDPAFSDGIRHVMDGSLPTSLKHIISNAEYYGPSLFLLATEVVTVFVFQEPSLLSSLQDNGLTDVMLHALLIKDVPATREVLGSLPNVFSALCLNARGLQSFVQCQPFERLFKVLLSPDYLPAMRRRRSSDPLGDTASNLGSAVDELMRHQPTLKTDATTAIIKLLEEICNLGRDPKYICQKPSIQKADGTATAPPPRSNHAAEEASSEDEEEEEVQAMQSFNSTQQNETEPNQQVVGTEERIPIPLMDYILNVMKFVESILSNNTTDDHCQEFVNQKGLLPLVTILGLPNLPIDFPTSAACQAVAGVCKSILTLSHEPKVLQEGLLQLDSILSSLEPLHRPIESPGGSVLLRELACAGNVADATLSAQATPLLHALTAAHAYIMMFVHTCRVGQSEIRSISVNQWGSQLGLSVLSKLSQLYCSLVWESTVLLSLCTPNSLPSGCEFGQADMQKLVPKDEKAGTTQGGKRSDGEQDGAAGSMDASTQGLLEGIGLDGDTLAPMETDEPTASDSKGKSKITPAMAARIKQIKPLLSASSRLGRALAELFGLLVKLCVGSPVRQRRSHHAASTTTAPTPAARSTASALTKLLTKGLSWQPPPYTPTPRFRLTFFICSVGFTSPMLFDERKYPYHLMLQKFLCSGGHNALFETFNWALSMGGKVPVSEGLEHSDLPDGTGEFLDAWLMLVEKMVNPTTVLESPHSLPAKLPGGVQNFPQFSALRFLVVTQKAAFTCIKNLWNRKPLKVYGGRMAESMLAILCHILRGEPVIRERLSKEKEGSRGEEDTGQEEGGSRREPQVNQQQLQQLMDMGFTREHAMEALLNTSTMEQATEYLLTHPPPIMGGVVRDLSMSEEDQMMRAIAMSLGQDIPMDQRAESPEEVACRKEEEERKAREKQEEEEAKCLEKFQDADPLEQDELHTFTDTMLPGCFHLLDELPDTVYRVCDLIMTAIKRNGADYRDMILKQVVNQVWEAADVLIKAALPLTTSDTKTVSEWISQMATLPQASNLATRILLLTLLFEELKLPCAWVVESSGILNVLIKLLEVVQPCLQAAKEQKEVQTPKWITPVLLLIDFYEKTAISSKRRAQMTKYLQSNSNNWRWFDDRSGRWCSYSASNNSTIDSAWKSGETSVRFTAGRRRYTVQFTTMVQVNEETGNRRPVMLTLLRVPRLNKNSKNSNGQELEKTLEESKEMDIKRKENKGNDTPLALESTNTEKETSLEETKIGEILIQGLTEDMVTVLIRACVSMLGVPVDPDTLHATLRLCLRLTRDHKYAMMFAELKSTRMILNLTQSSGFNGFTPLVTLLLRHIIEDPCTLRHTMEKVVRSAATSGAGSTTSGVVSGSLGSREINYILRVLGPAACRNPDIFTEVANCCIRIALPAPRGSGTASDDEFENLRIKGPNAVQLVKTTPLKPSPLPVIPDTIKEVIYDMLNALAAYHAPEEADKSDPKPGVMTQEVGQLLQDMGDDVYQQYRSLTRQSSDFDTQSGFSINSQVFAADGASTETSASGTSQGEASTPEESRDGKKDKEGDRASEEGKQKGKGSKPLMPTSTILRLLAELVRSYVGIATLIANYSYTVGQSELIKEDCSVLAFVLDHLLPHTQNAEDKDTPALARLFLASLAAAGSGTDAQVALVNEVKAALGRALAMAESTEKHARLQAVMCIISTIMESCPSTSSFYSSATAKTQHNGMNNIIRLFLKKGLVNDLARVPHSLDLSSPNMANTVNAALKPLETLSRIVNQPSSLFGSKSASSKNKSEQDAQGASQDSSSNQQDPGEPGEAEVQEEDHDVTQTEVADGDIMDGEAETDSVVIAGQPEVLSSQEMQVENELEDLIDELLERDGGSGNSTIIVSRSGEDESQEDVLMDEAPSNLSQASTLQANREDSMNILDPEDEEEHTQEEDSSGSNEDEDDSQDEEEEEEEDEEDDQEDDEGEEGDEDDDDDGSEMELDEDYPDMNASPLVRFERFDREDDLIIEFDNMFSSATDIPPSPGNIPTTHPLMVRHADHSSLTLGSGSSTTRLTQGIGRSQRTLRQLTANTGHTIHVHYPGNRQPNPPLILQRLLGPSAAADILQLSSSLPLQSRGRARLLVGNDDVHIIARSDDELLDDFFHDQSTATSQAGTLSSIPTALTRWTEECKVLDAESMHDCVSVVKVSIVNHLEFLRDEELEERREKRRKQLAEEETKITDKGKEDKENRDQSAQCTASKSNDSTEQNLSDGTPMPDSYPTTPSSTDAATSESKETLGTLQSSQQQPTLPTPPALGEVPQELQSPAGEGGSSTQLLMPVEPEELGPTRPSGEAETTQMELSPAPTITSLSPERAEDSDALTAVSSQLEGSPMDTSSLASCTLEEAVGDTSAAGSSEQPRAGSSTPGDAPPAVAEVQGRSDGSGESAQPPEDSSPPASSESSSTRDSAVAISGADSRGILEEPLPSTSSEEEDPLAGISLPEGVDPSFLAALPDDIRREVLQNQLGIRPPTRTAPSTNSSAPAVVGNPGVTEVSPEFLAALPPAIQEEVLAQQRAEQQRRELAQNASSDTPMDPVTFIQTLPSDLRRSVLEDMEDSVLAVMPPDIAAEAQALRREQEARQRQLMHERLFGHSSTSALSAILRSPAFTSRLSGNRGVQYTRLAVQRGGTFQMGGSSSHNRPSGSNVDTLLRLRGRLLLDHEALSCLLVLLFVDEPKLNTSRLHRVLRNLCYHAQTRHWVIRSLLSILQRSSESELCIETPKLTTSEEKGKKSSKSCGSSSHENRPLDLLHKMESKSSNQLSWLSVSMDAALGCRTNIFQIQRSGGRKHTEKHASGGSTVHIHPQAAPVVCRHVLDTLIQLAKVFPSHFTQQRTKETNCESDRERGNKACSPCSSQSSSSGICTDFWDLLVKLDNMNVSRKGKNSVKSVPVSAGGEGETSPYSLEASPLGQLMNMLSHPVIRRSSLLTEKLLRLLSLISIALPENKVSEAQANSGSGASSTTTATSTTSTTTTTAASTTPTPPTAPTPVTSAPALVAATAISTIVVAASTTVTTPTTATTTVSISPTTKGSKSPAKVSDGGSSSTDFKMVSSGLTENQLQLSVEVLTSHSCSEEGLEDAANVLLQLSRGDSGTRDTVLKLLLNGARHLGYTLCKQIGTLLAELREYNLEQQRRAQCETLSPDGLPEEQPQTTKLKGKMQSRFDMAENVVIVASQKRPLGGRELQLPSMSMLTSKTSTQKFFLRVLQVIIQLRDDTRRANKKAKQTGRLGSSGLGSASSIQAAVRQLEAEADAIIQMVREGQRARRQQQAATSESSQSEASVRREESPMDVDQPSPSAQDTQSIASDGTPQGEKEKEERPPELPLLSEQLSLDELWDMLGECLKELEESHDQHAVLVLQPAVEAFFLVHATERESKPPVRDTRESQLAHIKDEPPPLSPAPLTPATPSSLDPFFSREPSSMHISSSLPPDTQKFLRFAETHRTVLNQILRQSTTHLADGPFAVLVDYIRVLDFDVKRKYFRQELERLDEGLRKEDMAVHVRRDHVFEDSYRELHRKSPEEMKNRLYIVFEGEEGQDAGGLLREWYMIISREMFNPMYALFRTSPGDRVTYTINPSSHCNPNHLSYFKFVGRIVAKAVYDNRLLECYFTRSFYKHILGKSVRYTDMESEDYHFYQGLVYLLENDVSTLGYDLTFSTEVQEFGVCEVRDLKPNGANILVTEENKKE|lsflpiksgi* 11CO053 ENSG00000164463.12 ENSG00000113719.16 +/+ +/+ chr5:173056479 chr5:172909667 5'UTR/splice-site CDS/splice-site duplication 11 47 0 73 283 high . . |Endoplasmic_Reticulum-Golgi_Intermediate_Compartment_(ERGIC)(100%),Endoplasmic_reticulum_vesicle_transporter_(100%) . . ENSG00000164463.12 ENSG00000113719.16 ENST00000296953.6 ENST00000393784.8 downstream upstream duplicates(1) ^GAGTCACGCGATTTCCGGGAACCCGTCAGGAAGGACATAAACAAAACAAACCCGAGGCAGCATGGAGAGGGGCCGTGGCCCCTGCAGCGGAACCGGACCCAGTCCCTGAGCCGCCCCTACACCCACAG|TGTGAACGAGCTCTATGTCGATGACCCAGACAAGGACAGCGGTGGCAAGATCGACGTCAGTCTGAACATCAGTTTACCCAATCTGCACTGCGAGT___TGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGTGGGCCACATCGACAACTCCATGAAGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAG___GTCCCCGGCAACTTCCACGTGTCCACACACAGTGCCACAGCCCAGCCACAGAAC(CCAGACATGACGCATGTCATCCACAAGCTCTCCTTTGGGGACACGCTACAG___GTCCAGAACATCCACGGAGCTTTCAATGCTCTCGGGGGAGCAGACAGACTCACCTCCAACC___CCCTGGCCTCCCACGACTACATCCTGAAGATTGTGCCCACGGTTTATGAGGACAAGAGTGGCAAGCAGCGGTACTCCTACCAGTACACGGTGGCCAACAAG___GAATACGTCGCCTACAGCCACACGGGCCGCATCATCCCTGCAATCTGGTTCCGCTACGACCTCAGCCCCATCACGGTCAAGTACACAGAGAGACGGCAGCCGCTGTACAGATTCATCACCACG___ATCTGTGCCATCATTGGCGGGACCTTCACCGTCGCCGGCATCCTGGACTCATGCATCTTCACAGCCTCTGAGGCCTGGAAGAAGATCCAGCTGGGCAAGATGCATTGACGCCACACCCAGCCTAATGGCCGAGGACCCTGGGCATCGCCAGCCTTGCCTCCAGTGCCCTGTCTCCTTTGGCCCTCAATCTGGTCCCAAATCTGGCTGTGTCCCAAAGGGTGTGTGGGAAGTGGGGGGAAAGTAGAGGATGGCTCGATGTTTTGCAGCTACCTCTTTTCCCCGTGTTTCTTTTTAGACAAATTACACTGCCTGAAGTTGCAGTTCCCCTTTCCCTGGGGAGCCCCAAGAACAGAGTCAGGCAAGGGGTGGGGAGTCCAGGGATCTTGGGGACCCCTCCTAGGAGAGCTGCAGTCTCTTCCCTCAGGGGAACATCCCAGAATGCATATCGATCAGCTCTCAGCCAGGCTTCGACAATCTCGCAGCCCCCACTAGGTGGACACATTAATGATTTGGTTTCTCCCCTGGGCAGCCAACCTGCCCCAGAGGCACCAGACCTGGGCTTTCAGCTTTGGGACCAGGCTGCCCAAAGGTACTCCTTTATACACCCGGCACCTTCCACGAAAGATGGTACTTCCCAAGCAAGCCCCTATGATTTGTCACTATAGATGGAACCCTGACTTCTGCCCCATCCCTTCCTGCCCAACCTAGAACCCAGGCCTCAAGTCTTTACCCCACCCCTTTCTTGTTCTTCCAAGAAGCAGATGCCCAGTTGCTCAGCAGCAGCGGTAGAGACTTGAATCTGCCCACCAGTCACAAGGCGGGTCACAGATTCCTCTTCCTCTCTTCTCCTCGTTCCTCTGAACCCTCCACCAATGTGCCTCAGCCTGTGTGCTGTGTGGCAACAGCATTCTGGTTCCCACTGCCAAGATCTCCCACCACTCTGCTGGGATCTGCAGTGGCAGGGAGTGGGGGTTGTGTAAAGGGGAAGTCATCTTTTGAGATCCAGATAGACATGGTTTGTGCACTTACGTCCAGATGGGAAGCATCCTTCCTGCAACCCTAAAATAATCATGCAGCCTCTCAGACGGACGCCATCGGTCCCAAGGCCTTAGGTGGAGGAAGCAAAGCAGGCCAGGCCTGTCCTGTCCGTGGACCTCTACCTTCTGGACTCCCTACGGGTGCAGAGCACTTGGGTTTCTCTACAGCCATCGTGGCCCACTTGACACTGTGCTCCTCCATCAGCTGGTCACATGCCAACACGTTCCCAGCCCCTGAGGCAGCTCCAGGGTGCCCCACCTGCTCCTGAGGTGGGTCCCTACCCTGCTGCTCCTCTTCATCCTTTCCCTTTTGTCCTGAAAGGGAGGAGCAATGGTCCAGGCATTAATTCCACCCAGGGAATTTTAGCTATGCCCTCATGTCCCAGGGAGAGAGCCACACGCCTGTTTTCCATTTATAGCAAGATTGTTTGCATACTTTTGTAATGAAGGGGAGTGTCCAGTGGAAGGATTTTTAAAATTATCTTATGGATAGCTCAAGTCTCTGCCATTTGTAATTTTTGGCTCTAAGCTCCGATTGGAGACGCTTCTCCTTGTGCATGTGAGTTGACTGATGTTGTGAGTGTAAATGCATTTGGTTATTTCTGGTATCGGTGGCCACTTGGATGGATTTTTTTACATTCTGTTCCCCAGTTACAGGAAGGAGTCCCTTTGGTGTGTGAATATGTGTGCCTGTAGAGGGTGGGGCAGGGTGGGGTGGGGATGGAAATGTGTGGCATGCACATGAGTTGAAATTCTTTTATGCATTTTTTTGAAGAAAAAAAAAAAAACAACTCTGAGGACATAGGGGATGTCAGTTTCCTATGGAAGAGACACCTCTGACCCGTTATTCTTATAATCAAAATCTGAAGGGAAAAAAATGTTTTAGTTCTTTCCCCACTCGTTGGGTTCAACTAGATTAAAAGGCTGATTTTCAGAAA)$ . 11CO053 ENSG00000145934.16 ENSG00000184347.15 +/+ -/+ chr5:168062265 chr5:169272624 CDS/splice-site intron deletion/5'-5' 26 8 2 58 45 high out-of-frame . Teneurin_Intracellular_Region(100%)| . . ENSG00000145934.16 ENSG00000184347.15 ENST00000518659.5 . downstream upstream duplicates(4),mismappers(2),mismatches(1) ^(CTTTTCTGAAAACATCAGCATTCTGCCATATCTGGAATAATGGATGTAAAGGACCGGCGACACCGCTCTTTGACCAGAGGACGCTGTGGCAAAGAGTGTCGCTACACAAGCTCCTCTCTGGACAGTGAGGACTGCCGCGTGCCCACACAGAAATCCTACAGCTCCAGTGAGACTCTGAAGGCCTATGACCATGACAGCAGGATGCACTATGGAAACCGAGTCACAGACCTCATCCACCGGGAGTCAGATGAGTTTCCTAGACAAG___GAACCAACTTCACCCTTGCCGAACTGGGCATCTGTGAGCCCTCCCCACACCGAAGCGGCTACTGCTCCGACATGGGGATCCTTCACCAGGGCTACTCCCTTAGCACAGGGTCTGACGCCGACTCCGACACCGAGGGAGGGATGTCTCCAGAACACGCCATCAGACTGTGGGGCAGAGGGATAAAATCCAGGCGCAGTTCCGGCCTGTCCAGTCGTGAAAACTCGGCCCTTACCCTGACTGACTCTGACAACGAAAACAAATCAGATGATGAGAACG___GTCGTCCCATTCCACCTACATCCTCGCCTAGTCTCCTCCCATCTGCTCAGCTGCCTAGCTCCCATAATCCTCCACCAGTTAGCTGCCAGATGCCATTGCTAGACAGCAACACCTCCCATCAAATCATGGACACCAACCCTGATGAGGAATTCTCCCCCAATTCATACCTGCTCAGAGCATGCTCAGGGCCCCAGCAAGCCTCCAGCAGTG___GCCCTCCGAACCACCACAGCCAGTCGACTCTGAGGCCCCCTCTCCCACCCCCTCACAACCACACGCTGTCCCATCACCACTCGTCCGCCAACTCCCTCAACAGGAACTCACTGACCAATCGGCGGAGTCAGATCCACGCCCCGGCCCCAGCGCCCAATGACCTGGCCACCACACCAGAGTCCGTTCAGCTTCAGGACAGCTGGGTGCTAAACAGCAACGTGCCACTGGAGACCCG___GCACTTCCTCTTCAAGACCTCCTCGGGGAGCACACCCTTGTTCAGCAGCTCTTCCCCGGGATACCCTTTGACCTCAGGAACGGTTTACACGCCCCCGCCCCGCCTGCTGCCCAGGAATACTTTCTCCAGGAAGGCTTTCAAGCTGAAGAAGCCCTCCAAATACTGCAGCTGGAAATGTGCTGCCCTCTCCGCCATTGCCGCGGCCCTCCTCTTGGCTATTTTGCTGGCGTATTTCATAG___CAATGCATCTGCTCGGACTCAATTGGCAACTCCAGCCTGCAGATGGGCACACCTTTAACAATGGGATAAGGACCGGCTTACCAGGAAACGATGATGTGGCAACAATGCCATCTGGAGGCAAAG___)TGCCCTGGTCGTTGAAAAACAGCAGCATAGACAGTGGTGAAGCAGAAGTTGGTCGGCGGGTAACACAAGAAGTCCCACCAGGGGTGTTTTGGAGGTCACAAATTCACATCAGTCAGCCCCAGTTCTTAAAGTTCAACATCTCCCTCGGGAAGGACGCTCTCTTTGGTGTTTACATAAGAAGAGGACTTCCACCATCTCATGCCCAG|CTTCCAAGACCATGTGAGAAGAGAAACGAGAAGGGAAGGGAACAAGAAGCACTCACCCCATCATCCCTCTGCCAGACTTGATCCTGCAGGTCTACTGAAGTTGACCCCAGCTCCCAGGGAAAAAGAGATGGAGGTGGCTGCAG___ATGCCAGCTGCGACTCTGCTCACAGCCCAGGAGACCTGTAGACCCATAATGTCTCTTCCTGATGATTTGAACTGTGTCGTCAATAAGCG MDVKDRRHRSLTRGRCGKECRYTSSSLDSEDCRVPTQKSYSSSETLKAYDHDSRMHYGNRVTDLIHRESDEFPRQGTNFTLAELGICEPSPHRSGYCSDMGILHQGYSLSTGSDADSDTEGGMSPEHAIRLWGRGIKSRRSSGLSSRENSALTLTDSDNENKSDDENGRPIPPTSSPSLLPSAQLPSSHNPPPVSCQMPLLDSNTSHQIMDTNPDEEFSPNSYLLRACSGPQQASSSGPPNHHSQSTLRPPLPPPHNHTLSHHHSSANSLNRNSLTNRRSQIHAPAPAPNDLATTPESVQLQDSWVLNSNVPLETRHFLFKTSSGSTPLFSSSSPGYPLTSGTVYTPPPRLLPRNTFSRKAFKLKKPSKYCSWKCAALSAIAAALLLAILLAYFIAMHLLGLNWQLQPADGHTFNNGIRTGLPGNDDVATMPSGGKVPWSLKNSSIDSGEAEVGRRVTQEVPPGVFWRSQIHISQPQFLKFNISLGKDALFGVYIRRGLPPSHAQ|lprpcekrnekgreqealtpsslcqt* 11CO053 ENSG00000113719.16 ENSG00000145934.16 +/+ +/+ chr5:172897074 chr5:168062060 CDS/splice-site CDS/splice-site duplication 13 18 0 164 34 high out-of-frame . Endoplasmic_Reticulum-Golgi_Intermediate_Compartment_(ERGIC)(100%)|GHH_signature_containing_HNH/Endo_VII_superfamily_nuclease_toxin(100%) . . ENSG00000113719.16 ENSG00000145934.16 ENST00000393784.8 ENST00000518659.5 downstream upstream mismatches(1) ^(ACTTCCCGGCAGCGGGAGGCGAGTGGCGAGTGGCGAGTGGCGAGTGTCAGGGGGGCGGCCGGCGGGGGCGGGGCGGCCGGAGGAGGCGTTGGCAGCGGGCTCGGACCCACGCGGCGCCGCGGCC)CGCCTGGCCTGCAGCGCTCCCACCCCCGGCGGCGGCACGATGCCCTTTGACTTCAGGAG___GTTTGACATCTACAGGAAGGTGCCCAAGGACCTTACGCAGCCAACGTACACCGGGGCCATTA___TCTCCATCTGCTGCTGCCTCTTCATCCTCTTCCTCTTCCTCTCGGAGCTCACCGGATTTATAACGACAGAAGT|TGCCCTGGTCGTTGAAAAACAGCAGCATAGACAGTGGTGAAGCAGAAGTTGGTCGGCGGGTAACACAAGAAGTCCCACCAGGGGTGTTTTGGAGGTCACAAATTCACATCAGTCAGCCCCAGTTCTTAAAGTTCAACATCTCCCTCGGGAAGGACGCTCTCTTTGGTGTTTACATAAGAAGAGGACTTCCACCATCTCATGCCCAG(___TATGACTTCATGGAACGTCTGGACGGGAAGGAGAAGTGGAGTGTGGTTGAGTCTCCCAGGGAACGCCGGAGCATACAGACCTTGGTTCAGAATGAAGCCGTGTTTGTGCAGTACCTGGATGTGGGCCTGTGGCATCTGGCCTTCTACAATGATGGAAAAGACAAAGAGATGGTTTCCTTCAATACTGTTGTCCTAG___ATTCAGTGCAGGACTGTCCACGTAACTGCCATGGGAATGGTGAATGTGTGTCCGGGGTGTGTCACTGTTTCCCAGGATTTCTAGGAGCAGACTGTGCTAAAG___CTGCCTGCCCTGTCCTGTGCAGTGGGAATGGACAATATTCTAAAGGGACGTGCCAGTGCTACAGCGGCTGGAAAGGTGCAGAGTGCGACGTGCCCATGAATCAGTGCATCGATCCTTCCTGCGGGGGCCACGGCTCCTGCATTGATGGGAACTGTGTCTGCTCTGCTGGCTACAAAGGCGAGCACTGTGAGGAAG___TTGATTGCTTGGATCCCACCTGCTCCAGCCACGGAGTCTGTGTGAATGGAGAATGCCTGTGCAGCCCTGGCTGGGGTGGTCTGAACTGTGAGCTGGCGAGGGTCCAGTGCCCAGACCAGTGCAGTGGGCATGGCACGTACCTGCCTGACACGGGCCTCTGCAGCTGCGATCCCAACTGGATGGGTCCCGACTGCTCTGTTG___AAGTGTGCTCAGTAGACTGTGGCACTCACGGCGTCTGCATCGGGGGAGCCTGCCGCTGTGAAGAGGGCTGGACAGGCGCAGCGTGTGACCAGCGCGTGTGCCACCCCCGCTGCATTGAGCACGGGACCTGTAAAGATGGCAAATGTGAATGCCGAGAGGGCTGGAATGGTGAACACTGCACCATTGGTAGGCAAACGGCAGGCACCGAAACAG___ATGGCTGCCCTGACTTGTGCAACGGTAACGGGAGATGCACACTGGGTCAGAACAGCTGGCAGTGTGTCTGCCAGACCGGCTGGAGAGGGCCCGGATGCAACGTTGCCATGGAAACTTCCTGTGCTGATAACAAGGATAATGAGGGAG___ATGGCCTGGTGGATTGTTTGGACCCTGACTGCTGCCTGCAGTCAGCCTGTCAGAACAGCCTGCTCTGCCGGGGGTCCCGGGACCCACTGGACATCATTCAGCAGGGCCAGACGGATTGGCCCGCAGTGAAGTCCTTCTATGACCGTATCAAGCTCTTGGCAGGCAAGGATAGCACCCACATCATTCCTGGAGAGAACCCTTTCAACAGCAG___CTTGGTTTCTCTCATCCGAGGCCAAGTAGTAACTACAGATGGAACTCCCCTGGTCGGTGTGAACGTGTCTTTTGTCAAGTACCCAAAATACGGCTACACCATCACCCGCCAGGATGGCAC___GTTCGACCTGATCGCAAATGGAGGTGCTTCCTTGACTCTACACTTTGAGCGAGCCCCGTTCATGAGCCAGGAGCGCACTGTGTGGCTGCCGTGGAACAGCTTTTACGCCATGGACACCCTGGTGATGAAGACCGAGGAGAACTCCATCCCCAGCTGTGACCTCAGTGGCTTTGTCCGGCCTGATCCAATCATCATCTCCTCCCCACTGTCCACCTTCTTTAGTGCTGCCCCTGGGCAGAATCCCATCGTGCCTGAGACCCAG___GTTCTTCATGAAGAAATCGAGCTCCCTGGTTCCAATGTGAAACTTCGCTATCTGAGCTCTAGAACTGCAGGGTACAAGTCACTGCTGAAGATCACCATGACCCAGTCCACAGTGCCCCTGAACCTCATTAGGGTTCACCTGATGGTGGCTGTCGAGGGGCATCTCTTCCAGAAGTCATTCCAGGCTTCTCCCAACCTGGCCTACACCTTCATCTGGGACAAGACAGATGCGTATGGCCAAAGGGTGTATGGACTCTCAGATGCTGTTG___TGTCTGTCGGGTTTGAATATGAGACCTGTCCCAGTCTAATTCTCTGGGAGAAAAGGACAGCCCTCCTTCAGGGATTCGAGCTGGACCCCTCCAACCTCGGTGGCTGGTCCCTAGACAAACACCACATCCTCAATGTTAAAAGTG___GAATCCTACACAAAGGCACTGGGGAAAACCAGTTCCTGACCCAGCAGCCTGCCATCATCACCAGCATCATGGGCAATGGTCGCCGCCGGAGCATTTCCTGTCCCAGCTGCAACGGCCTTGCTGAAGGCAACAAGCTGCTGGCCCCAGTGGCTCTGGCTGTTGGAATCGATGGGAGCCTCTATGTGGGTGACTTCAATTACATCCGACGCATCTTTCCCTCTCGAAATGTGACCAGCATCTTGGAGTTACG___AAATAAAGAGTTTAAACATAG___CAACAACCCAGCACACAAGTACTACTTGGCAGTGGACCCCGTGTCCGGCTCGCTCTACGTGTCCGACACCAACAGCAGGAGAATCTACCGCGTCAAGTCTCTGAGTGGAACCAAAGACCTGGCTGGGAATTCGGAAGTTGTGGCAGGGACGGGAGAGCAGTGTCTACCCTTTGATGAAGCCCGCTGCGGGGATGGAGGGAAGGCCATAGATGCAACCCTGATGAGCCCGAGAG___GTATTGCAGTAGACAAGAATGGGCTCATGTACTTTGTCGATGCCACCATGATCCGGAAGGTTGACCAGAATGGAATCATCTCCACCCTGCTGGGCTCCAATGACCTCACTGCCGTCCGGCCGCTGAGCTGTGATTCCAGCATGGATGTAGCCCAG___GTTCGTCTGGAGTGGCCAACAGACCTTGCTGTCAATCCCATGGATAACTCCTTGTATGTTCTAGAGAACAATGTCATCCTTCGAATCACCGAGAACCACCAAGTCAGCATCATTGCGGGACGCCCCATGCACTGCCAAGTTCCTGGCATTGACTACTCACTCAGCAAACTAGCCATTCACTCTGCCCTGGAGTCAGCCAGTGCCATTGCCATTTCTCACACTGGGGTCCTCTACATCACTGAGACAGATGAGAAGAAGATTAACCGTCTACGCCAGGTAACAACCAACGGGGAGATCTGCCTTTTAGCTGGGGCAGCCTCGGACTGCGACTGCAAAAACGATGTCAATTGCAACTGCTATTCAGGAGATGATGCCTACGCGACTGATGCCATCTTGAATTCCCCATCATCCTTAGCTGTAGCTCCAGATGGTACCATTTACATTGCAGACCTTGGAAATATTCGGATCAGGGCGGTCAGCAAGAACAAGCCTGTTCTTAATGCCTTCAACCAGTATGAGGCTGCATCCCCCGGAGAGCAGGAGTTATATGTTTTCAACGCTGATGGCATCCACCAATACACTGTGAGCCTGGTGACAGGGGAGTACTTGTACAATTTCACATATAGTACTGACAATGATGTCACTGAATTGATTGACAATAATGGGAATTCCCTGAAGATCCGTCGGGACAGCAGTGGCATGCCCCGTCACCTGCTCATGCCTGACAACCAGATCATCACCCTCACCGTGGGCACCAATGGAGGCCTCAAAGTCGTGTCCACACAGAACCTGGAGCTTGGTCTCATGACCTATGATGGCAACACTGGGCTCCTGGCCACCAAGAGCGATGAAACAGGATGGACGACTTTCTATGA___CTATGACCACGAAGGCCGCCTGACCAACGTGACGCGCCCCACGGGGGTGGTAACCAGTCTGCACCGGGAAATGGAGAAATCTATTACCATTGACATTGAGAACTCCAACCGTGATGATGACGTCACTGTCATCACCAACCTCTCTTCAGTAGAGGCCTCCTACACAGTGGTACAAG___ATCAAGTTCGGAACAGCTACCAGCTCTGTAATAATGGTACCCTGAGGGTGATGTATGCTAATGGGATGGGTATCAGCTTCCACAGCGAGCCCCATGTCCTAGCGGGCACCATCACCCCCACCATTGGACGCTGCAACATCTCCCTGCCTATGGAGAATGGCTTAAACTCCATTGAGTGGCGCCTAAGAAAGGAACAGATTAAAGGCAAAGTCACCATCTTTGGCAGGAAGCTCCGG___GTCCATGGAAGAAATCTCTTGTCCATTGACTATGATCGAAATATTCGGACTGAAAAGATCTATGATGACCACCGGAAGTTCACCCTGAGGATCATTTATGACCAGGTGGGCCGCCCCTTCCTCTGGCTGCCCAGCAGCGGGCTGGCAGCTGTCAACGTGTCATACTTCTTCAATGGGCGCCTGGCTGGGCTTCAGCGTGGGGCCATGAGCGAGAGGACAGACATCGACAAGCAAGGCCGCATCGTGTCCCGCATGTTCGCTGACGGGAAAGTGTGGAGCTACTCCTACCTTGACAAG___TCCATGGTCCTCCTGCTTCAGAGCCAACGTCAGTATATATTTGAGTATGACTCCTCTGACCGCCTCCTTGCCGTCACCATGCCCAGCGTGGCCCGGCACAGCATGTCCACACACACCTCCATCGGCTACATCCGTAATATTTACAACCCGCCTGAAAGCAATGCTTCGGTCATCTTTGACTACAGTGATGACGGCCGCATCCTGAAGACCTCCTTTTTGGGCACCGGACGCCAGGTGTTCTACAAGTATGGGAAACTCTCCAAGTTATCAGAGATTGTCTACGACAGTACCGCCGTCACCTTCGGGTATGACGAGACCACTGGTGTCTTGAAGATGGTCAACCTCCAAAGTGGGGGCTTCTCCTGCACCATCAGGTACCGGAAGATTGGCCCCCTGGTGGACAAGCAGATCTACAGGTTCTCCGAGGAAGGCATGGTCAATGCCAGGTTTGACTACACCTATCATGACAACAGCTTCCGCATCGCAAGCATCAAGCCCGTCATAAGTGAGACTCCCCTCCCCGTTGACCTCTACCGCTATGATGAGATTTCTGGCAAGGTGGAACACTTTGGTAAGTTTGGAGTCATCTATTATGACATCAACCAGATCATCACCACTGCCGTGATGACCCTCAGCAAACACTTCGACACCCATGGGCGGATCAAGGAGGTCCAGTATGAGATGTTCCGGTCCCTCATGTACTGGATGACGGTGCAATATGACAGCATGGGCAGGGTGATCAAGAGGGAGCTAAAACTGGGGCCCTATGCCAATACCACGAAGTACACCTATGACTACGATGGGGACGGGCAGCTCCAGAGCGTGGCCGTCAATGACCGCCCGACCTGGCGCTACAGCTATGACCTTAATGGGAATCTCCACTTACTGAACCCAGGCAACAGTGTGCGCCTCATGCCCTTGCGCTATGACCTCCGGGATCGGATAACCAGACTCGGGGATGTGCAGTACAAAATTGACGACGATGGCTATCTGTGCCAGAGAGGGTCTGACATCTTCGAATACAATTCCAAGGGCCTCCTAACAAGAGCCTACAACAAGGCCAGCGGGTGGAGTGTCCAGTACCGCTATGATGGCGTAGGACGGCGGGCTTCCTACAAGACCAACCTGGGCCACCACCTGCAGTACTTCTACTCTGACCTCCACAACCCGACGCGCATCACCCATGTCTACAATCACTCCAACTCGGAGATTACCTCACTGTACTACGACCTCCAGGGCCACCTCTTTGCCATGGAGAGCAGCAGTGGGGAGGAGTACTATGTTGCCTCTGATAACACAGGGACTCCTCTGGCTGTGTTCAGCATCAACGGCCTCATGATCAAACAGCTGCAGTACACGGCCTATGGGGAGATTTATTATGACTCCAACCCCGACTTCCAGATGGTCATTGGCTTCCATGGGGGACTCTATGACCCCCTGACCAAGCTGGTCCACTTCACTCAGCGTGATTATGATGTGCTGGCAGGACGATGGACCTCCCCAGACTATACCATGTGGAAAAACGTGGGCAAGGAGCCGGCCCCCTTTAACCTGTATATGTTCAAGAGCAACAATCCTCTCAGCAGTGAGCTAGATTTGAAGAACTACGTGACAG___ATGTGAAAAGCTGGCTTGTGATGTTTGGATTTCAGCTTAGCAACATCATTCCTGGCTTCCCGAGAGCCAAAATGTATTTCGTGCCTCCTCCCTATGAATTGTCAGAGAGTCAAGCAAGTGAGAATGGACAG___CTCATTACAGGTGTCCAACAGACAACAGAGAGACATAACCAGGCCTTCATGGCTCTGGAAGGACAGGTCATTACTAAAAAGCTCCACGCCAGCATCCGAGAGAAAGCAGGTCACTGGTTTGCCACCACCACGCCCATCATTGGCAAAGGCATCATGTTTGCCATCAAAGAAGGGCGGGTGACCACGGGCGTGTCCAGCATCGCCAGCGAAGATAGCCGCAAGGTGGCATCTGTGCTGAACAACGCCTACTACCTGGACAAGATGCACTACAGCATCGAGGGCAAGGACACCCACTACTTTGTGAAGATTGGCTCAGCCGATGGCGACCTGGTCACACTAGGCACCACCATCGGCCGCAAGGTGCTAGAGAGCGGGGTGAACGTGACCGTGTCCCAGCCCACGCTGCTGGTCAACGGCAGGACTCGAAGGTTCACGAACATTGAGTTCCAGTACTCCACGCTGCTGCTCAGCATCCGCTATGGCCTCACCCCCGACACCCTGGACGAAGAGAAGGCCCGCGTCCTGGACCAGGCGAGACAGAGGGCCCTGGGCACGGCCTGGGCCAAGGAGCAGCAGAAAGCCAGGGACGGGAGAGAGGGGAGCCGCCTGTGGACTGAGGGCGAGAAGCAGCAGCTTCTGAGCACCGGGCGCGTGCAAGGGTACGAGGGATATTACGTGCTTCCCGTGGAGCAATACCCAGAGCTTGCAGACAGTAGCAGCAACATCCAGTTTTTAAGACAGAATGAGATGGGAAAGAGGTAACAAAATAATCTGCTGCCATTCCTTGTCTGAATGGCTCAGCAGGAGTAACTGTTATCTCCTCTCCTAAGGAGATGAAGACCTAACAGGGGCACTGCGGCTGGGCTGCTTTAGGAGACCAAGTGGCAAGAAAGCTCACATTTTTTGAGTTCAAATGCTACTGTCCAAGCGAGAAGTCCCTCATCCTGA)$ MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEv|alvvekqqhrqw* 11CO053 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 18 13 0 70 43 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATG)CCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO053 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 9 0 25 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(2) GTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGtGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGaCC(TCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO053 ENSG00000113732.9 ENSG00000164308.17 +/+ +/+ chr5:172983964 chr5:96896732 CDS/splice-site CDS/splice-site duplication 10 10 0 310 68 high out-of-frame . |ERAP1-like_C-terminal_domain(100%),Peptidase_family_M1_domain(100%) . . ENSG00000113732.9 ENSG00000164308.17 ENST00000519374.6 ENST00000437043.8 downstream upstream duplicates(1),mismatches(1) ^(GCACACGCTGGTCACGCGGTCAGC)TATTGACACTTCCTGGTGGGATCCGAGTGAGGCGACGGGGTAGGGGTTGGCGCTCAGGCGGCGACCATGGCGTATCACGGCCTCACTGTGCCTCTCATTGTGATGAGCGTGTTCTGGGGCTTCGTCGGCTTCTTGGTGCCTTGGTTCATCCCTAAGGGTCCTAACCGGGG|GGAGCTTGTATTTTGAATATGCTCAAGGATTTTCTGGGTGAGGAGAAATTCCAGAAAGGAATAATTCAGTACTTAAAGAAGTTCAGCTATAGAAATGCTAAGAATGATGACTTGTGGAGCAGTCTGTCAAAT___AGTTGTTTAGAAAGTGATTTTACATCTGG(TGGAGTTTGTCATTCGGATCCCAAGATGACAAGTAACATG___CTCGCCTTTCTGGGGGAAAATGCAGAGGTCAAAGAGATGATGACTACATGGACTCTCCAGAAAGGAATCCCCCTGCTGGTGGTTAAACAAGACGGGTGTTCACTCCGACTGCAACAGGAGCGCTTCCTCCAGGGGGTTTTCCAGGAAGACCCTGAATGGAGGGCCCTGCAGGAGAG___GTACCTGTGGCATATCCCATTGACCTACTCCACGAGTTCTTCTAATGTGATCCACAGACACATTCTAAAATCAAAGACAG___ATACTCTGGATCTACCTGAAAAGACCAGTTGGGTGAAATTTAATGTGGACTCAAATGGTTACTACATCGTTCACTATGAGGGTCATGGATGGGACCAACTCATTACACAGCTGAATCAGAACCACACACTTCTCAGACCTAAGGACAGAGTAGGTCTGATTCATGATGTGTTTCAGCTAGTTGG___TGCAGGGAGACTGACCCTAGACAAAGCTCTTGACATGACTTACTACCTCCAACATGAAACAAGCAGCCCCGCACTTCTCGAAGGTCTGAGTTACTTGGAATCGTTTTACCACATGATGGACAGAAGGAATATTTCAGATATCTCTGAAAACCTCAAG___CGTTACCTTCTTCAGTATTTTAAGCCAGTGATTGACAGGCAAAGCTGGAGTGACAAGGGCTCAGTCTGGGACAGGATGCTCCGCTCGGCTCTCTTGAAGCTGGCCTGTGACCTGAACCATGCTCCTTGCATCCAGAAAGCTGCTGAACTCTTCTCCCAGTGGATGGAATCCAGTGGAAAATTAAA___TATACCAACAGATGTTTTAAAGATTGTGTATTCTGTGGGTGCTCAGACAACAGCAGGATGGAATTACCTTTTAGAGCAATATGAACTGTCAATGTCAAGTGCTGAACAAAACAAAATTCTGTATGCTTTGTCAACGAGCAAGCATCAGGAAAAGTTACTGAA___GTTAATTGAACTAGGAATGGAAGGAAAGGTTATCAAGACACAGAACTTGGCAGCTCTCCTTCATGCGATTGCCAGACGTCCAAAGGGGCAGCAACTAGCATGGGATTTTGTAAGAGAAAATTGGACCCATCTTCTGAAAAA___ATTTGACTTGGGCTCATATGACATAAGGATGATCATCTCTGGCACAACAGCTCACTTTTCTTCCAAGGATAAGTTGCAAGAG___GTGAAACTATTTTTTGAATCTCTTGAGGCTCAAGGATCACATCTGGATATTTTTCAAACTGTTCTGGAAACGATAACCAAAAATATAAAATGGCTGGAGAAGAATCTTCCGACTCTGAGGACTTGGCTAATGGTTAATACTTAAATGGTCAATAGAAAAAGTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGAAGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAGACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGCAGGCTGCAGCAGGAAAATGGCATAAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGTGACTGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAAAAGGTACATCAGACATGACTGCCTGCATGAAGTCAAACAGGGTAACACCAGTGAAGCTCAAGTCAAGAGCTGTGGATATTTTGTCTAACCAACAAGAAGTCTCAAGAAATCAGGCAGTGCAGCTGCCTGCTCTCAGCTATCGTATCCAGCCAAAAGATGCATGATGATGGAGTGGTGGGGGAAGGCCAGTTCAGTATCCTATTTAAAAGTAAACTTCCTGAATAATGGATATATGTGGAGATACAGACATAGATATATAGATACAGCTGTAATTATTTAGCCTCAAGTGACTTTCTCCATTGCTTCACGCTATGCCACTATTTTGCTTCTTTAATTTTTTTAACCTTGCTTAGTATTCTATAGTTTGCCCAACCAGTTTTACGTCCAAGGAAAATTAGCCAATGCATAAAATATACAAACTATGAAAGGCAAGGATCAGGAAACCAGAGACTTTGCCACCAAATCTCAGATTATTAGAAACTAGGTGTCAGGGTTTATCAAGAAGGCCAGGAAGGCCTTTTGGGTTAAGCCTTACATTCATGAAGAACCTCAAGGGTAGATTTTTGAGAGCATTCCAAATGAATGGTCTCTGGTCAAATGAATGAATGGTCAAATGAATAAATCTGCCCTCACAGAGATACAAAAGGAAAAGGAATATAATTCATACCATTTGGTTTAAGCCTTACATTCATGAAGTACCTCAAGGGTAGATTTTTGAGATCATTCCAAATGAAGTCGAATCTGCCCTCACAGAGACACAAGAAAGGAATATAATTCATACACTATTGCATTTTTAATAAATCTTTTGAAATTTGCAGAATTAGATTGTATTGTGTATTTTCGGTTAAATGATAATTGAATGTAAATATTTAGATGCAGCACCATATTTTATAACCCAGCTTTAGCATTTCTTCATATTTTAAGGAAACCCCCCACCTCCTTCTTTTAAGGGCGCTTCTTGCTCTCTGAAATGCCCTGCTAAATGCTTCTCTTAATTATTTGAATAAGGTAGTTTGGAATAAAGAAAGAAAAGATCACTCTACATACAGATAGTAAACTTAATTTGTGATCCTATATATGAGACAGTATAAAAATACAGATAAGTTTTAGAAAGACTCAAAACAATATGTAAATGACTGATGTTTGCATTATTAAGGAAGACTTGGGATGTTGGGTCAAGAGGGGAAAGTGTTAGTCAATCCACTTTGGAGCAATATCATGAAGGTCAATTATAATTCCATATACCTTTCTTTGATGCCACAGTCAGAGATAGAATACAGTTTGGGTGGCCATGGATGTGCCCCAATACAGTACACATTTTTTGGTTAAATTTGTTTTCAGATCATTTCATGGAATCTTTGAAGTATCTTTGACTCTAACTTTGACTTGGTGGTGGACCTTCCTTGGTTTTTATAACACCTAAGAGATATCCTTTAGAATTACATGTATTTTAGCATAAGGAAATTGAAAAAGTAAAACATACTGGTTTTTTTCAACAAGACCATATGTAAATTAAATAGTGAAATGTGTATGAGTTTCAGTAGAACTGTACCATCAACAATGTTTCCATAAATATGCAGAGTTCTTTCTTTTGTATTGTTATTTACAATATTGTTAAATTGAATGCATTTGCAATTTCTAGGATTCTAAAGAATTGAGTACAGAAAGTAGCAATTTTATTATTTGATGATAATATGAGAATTACTGTGCCAATACTGTTTTGATAAATAAATAGATTTTTAAAAATAAA)$ MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRg|elvf* 11CO053 ENSG00000113732.9 ENSG00000164308.17 +/+ +/+ chr5:172983964 chr5:96896373 CDS/splice-site CDS/splice-site duplication 1 7 0 310 32 high out-of-frame . |ERAP1-like_C-terminal_domain(100%),Peptidase_family_M1_domain(100%) . . ENSG00000113732.9 ENSG00000164308.17 ENST00000519374.6 ENST00000437043.8 downstream upstream . ^(GCACACGCTGGTCACGCGGTCAGCTATTGACACTTCCTGGTGGGAT)CCGAGTGAGGCGACGGGGTAGGGGTTGGCGCTCAGGCGGCGACCATGGCGTATCACGGCCTCACTGTGCCTCTCATTGTGATGAGCGTGTTCTGGGGCTTCGTCGGCTTCTTGGTGCCTTGGTTCATCCCTAAGGGTCCTAACCGGGG|GATGACTATTTTTTGAATGTGTGTTTTGAAGTAATTACAAAAGATTCATTGAATTCATCCCGCCCTATCTCCAAACCAGCGGAAACCCCGACTCAAATACAGGAAATGTTTGATGAAGTTTCCTATAACAAG___GGAGCTTGTATTTTGAATATGCTCAAGGATTTTCTGGGTGAGGAGAAATTCCAGAAAGGAATAATTCAG(TACTTAAAGAAGTTCAGCTATAGAAATGCTAAGAATGATGACTTGTGGAGCAGTCTGTCAAAT___AGTTGTTTAGAAAGTGATTTTACATCTGGTGGAGTTTGTCATTCGGATCCCAAGATGACAAGTAACATG___CTCGCCTTTCTGGGGGAAAATGCAGAGGTCAAAGAGATGATGACTACATGGACTCTCCAGAAAGGAATCCCCCTGCTGGTGGTTAAACAAGACGGGTGTTCACTCCGACTGCAACAGGAGCGCTTCCTCCAGGGGGTTTTCCAGGAAGACCCTGAATGGAGGGCCCTGCAGGAGAG___GTACCTGTGGCATATCCCATTGACCTACTCCACGAGTTCTTCTAATGTGATCCACAGACACATTCTAAAATCAAAGACAG___ATACTCTGGATCTACCTGAAAAGACCAGTTGGGTGAAATTTAATGTGGACTCAAATGGTTACTACATCGTTCACTATGAGGGTCATGGATGGGACCAACTCATTACACAGCTGAATCAGAACCACACACTTCTCAGACCTAAGGACAGAGTAGGTCTGATTCATGATGTGTTTCAGCTAGTTGG___TGCAGGGAGACTGACCCTAGACAAAGCTCTTGACATGACTTACTACCTCCAACATGAAACAAGCAGCCCCGCACTTCTCGAAGGTCTGAGTTACTTGGAATCGTTTTACCACATGATGGACAGAAGGAATATTTCAGATATCTCTGAAAACCTCAAG___CGTTACCTTCTTCAGTATTTTAAGCCAGTGATTGACAGGCAAAGCTGGAGTGACAAGGGCTCAGTCTGGGACAGGATGCTCCGCTCGGCTCTCTTGAAGCTGGCCTGTGACCTGAACCATGCTCCTTGCATCCAGAAAGCTGCTGAACTCTTCTCCCAGTGGATGGAATCCAGTGGAAAATTAAA___TATACCAACAGATGTTTTAAAGATTGTGTATTCTGTGGGTGCTCAGACAACAGCAGGATGGAATTACCTTTTAGAGCAATATGAACTGTCAATGTCAAGTGCTGAACAAAACAAAATTCTGTATGCTTTGTCAACGAGCAAGCATCAGGAAAAGTTACTGAA___GTTAATTGAACTAGGAATGGAAGGAAAGGTTATCAAGACACAGAACTTGGCAGCTCTCCTTCATGCGATTGCCAGACGTCCAAAGGGGCAGCAACTAGCATGGGATTTTGTAAGAGAAAATTGGACCCATCTTCTGAAAAA___ATTTGACTTGGGCTCATATGACATAAGGATGATCATCTCTGGCACAACAGCTCACTTTTCTTCCAAGGATAAGTTGCAAGAG___GTGAAACTATTTTTTGAATCTCTTGAGGCTCAAGGATCACATCTGGATATTTTTCAAACTGTTCTGGAAACGATAACCAAAAATATAAAATGGCTGGAGAAGAATCTTCCGACTCTGAGGACTTGGCTAATGGTTAATACTTAAATGGTCAATAGAAAAAGTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGAAGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAGACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGCAGGCTGCAGCAGGAAAATGGCATAAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGTGACTGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAAAAGGTACATCAGACATGACTGCCTGCATGAAGTCAAACAGGGTAACACCAGTGAAGCTCAAGTCAAGAGCTGTGGATATTTTGTCTAACCAACAAGAAGTCTCAAGAAATCAGGCAGTGCAGCTGCCTGCTCTCAGCTATCGTATCCAGCCAAAAGATGCATGATGATGGAGTGGTGGGGGAAGGCCAGTTCAGTATCCTATTTAAAAGTAAACTTCCTGAATAATGGATATATGTGGAGATACAGACATAGATATATAGATACAGCTGTAATTATTTAGCCTCAAGTGACTTTCTCCATTGCTTCACGCTATGCCACTATTTTGCTTCTTTAATTTTTTTAACCTTGCTTAGTATTCTATAGTTTGCCCAACCAGTTTTACGTCCAAGGAAAATTAGCCAATGCATAAAATATACAAACTATGAAAGGCAAGGATCAGGAAACCAGAGACTTTGCCACCAAATCTCAGATTATTAGAAACTAGGTGTCAGGGTTTATCAAGAAGGCCAGGAAGGCCTTTTGGGTTAAGCCTTACATTCATGAAGAACCTCAAGGGTAGATTTTTGAGAGCATTCCAAATGAATGGTCTCTGGTCAAATGAATGAATGGTCAAATGAATAAATCTGCCCTCACAGAGATACAAAAGGAAAAGGAATATAATTCATACCATTTGGTTTAAGCCTTACATTCATGAAGTACCTCAAGGGTAGATTTTTGAGATCATTCCAAATGAAGTCGAATCTGCCCTCACAGAGACACAAGAAAGGAATATAATTCATACACTATTGCATTTTTAATAAATCTTTTGAAATTTGCAGAATTAGATTGTATTGTGTATTTTCGGTTAAATGATAATTGAATGTAAATATTTAGATGCAGCACCATATTTTATAACCCAGCTTTAGCATTTCTTCATATTTTAAGGAAACCCCCCACCTCCTTCTTTTAAGGGCGCTTCTTGCTCTCTGAAATGCCCTGCTAAATGCTTCTCTTAATTATTTGAATAAGGTAGTTTGGAATAAAGAAAGAAAAGATCACTCTACATACAGATAGTAAACTTAATTTGTGATCCTATATATGAGACAGTATAAAAATACAGATAAGTTTTAGAAAGACTCAAAACAATATGTAAATGACTGATGTTTGCATTATTAAGGAAGACTTGGGATGTTGGGTCAAGAGGGGAAAGTGTTAGTCAATCCACTTTGGAGCAATATCATGAAGGTCAATTATAATTCCATATACCTTTCTTTGATGCCACAGTCAGAGATAGAATACAGTTTGGGTGGCCATGGATGTGCCCCAATACAGTACACATTTTTTGGTTAAATTTGTTTTCAGATCATTTCATGGAATCTTTGAAGTATCTTTGACTCTAACTTTGACTTGGTGGTGGACCTTCCTTGGTTTTTATAACACCTAAGAGATATCCTTTAGAATTACATGTATTTTAGCATAAGGAAATTGAAAAAGTAAAACATACTGGTTTTTTTCAACAAGACCATATGTAAATTAAATAGTGAAATGTGTATGAGTTTCAGTAGAACTGTACCATCAACAATGTTTCCATAAATATGCAGAGTTCTTTCTTTTGTATTGTTATTTACAATATTGTTAAATTGAATGCATTTGCAATTTCTAGGATTCTAAAGAATTGAGTACAGAAAGTAGCAATTTTATTATTTGATGATAATATGAGAATTACTGTGCCAATACTGTTTTGATAAATAAATAGATTTTTAAAAATAAA)$ MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRg|mtif* 11CO053 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 12 0 29 95 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(4),mismatches(1) GGAGCGTGTGGGCAGCAGCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO053 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 3 0 161 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAA)AGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGaaCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO053 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 26 18 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAAC(TCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO053 ENSG00000033867.16 ENSG00000235493.2 -/- -/- chr3:27383153 chr3:27967408 CDS/splice-site exon/splice-site duplication 5 4 0 22 7 high out-of-frame . Band_3_cytoplasmic_domain(100%),HCO3-_transporter_family(100%)| . . ENSG00000033867.16 ENSG00000235493.2 ENST00000425128.6 ENST00000643609.1 upstream downstream . ^(GCTCTCCTCCTTCCCGCTCGGTCCGCCGGTTCGCTCAGTTCTAGCTTCAGGTTCCACGCCGCGGCCTCGCTCTCCTACTAAAGCCAGCCCAGCAGTCGCAGCGCGCACACGCACGCCCCGCGTCTCCCGCGCCCGGCGCCCGGCTCTCCCCACGCGCGCACACCTCGCGCACGGACGCACCCACGTTTGTCCTCGCGCGCCGGGGGCTCGGCGGCGGCGGCAGGGGCAGCGGCAGAAGCAGGCAGACCGCGCGGGGCAGTACCGTAGCGGCCGTCACGGGCTGGCCGGCCGGCCATGGAGGCTGATGGGGCCGGCGAGCAGATGAGACCGCTACTCACCCGG___GGTCCTGATGAAGAAGCTGTTGTGGATCTTGGCAAAACTAGCTCAACTGTGAACACCAAGTTTGAAAAAGAAGAACTAGAAA___GTCATAGAGCTGTATATATTGGTGTTCACGTCCCGTTTAGTAAAGAGAGTCGTCGGCGTCATAGGCATCGCGGACACAAACATCACCACCGGAGAAGAAAAGATAAAGAATCAGATAAAGAAGATGGACGGGAATCTCCTTCTTATG___ATACACCATCCCAGAGAGTTCAGTTTATCCTTGGTACTGAAGATGATGATGAAGAACATATTCCCCATGATCTCTTCACGGAAATGGATGAACTGTGTTACAGAGATGGAGAAGAATATGAATGGAAAGAAACTGCTAG___ATGGCTGAAATTTGAAGAGGATGTTGAAGATGGCGGTGACCGATGGAGTAAACCTTATGTGGCAACTCTCTCTTTGCACAGTCTTTTTGAACTAAGGAGTTGCATCCTCAATGGAACAGTCATGCTGGATATGAGAGCAAGCACTCTAGATGAAATAGCAG___ATATGGTATTAGACAACATGATAGCTTCTGGCCAATTAGACGAGTCCATACGAGAGAATGTCAGAGAAGCTCTTCTGAAGAGACATCATCATCAGAATGAGAAAAGATTCACCAGTCGGATTCCTCTT___CTCGTGAGGATTACAGTGAGGACTA___GGGAAGGCCTTTCAGCCTCCCGCCACTCTTTGCGAACAGGTCTGTCTGCCTCAAACCTTTCCTTGAGAGGAGAATCACCTTTATCTCTTCTTCTTGGTCATCTTCTTCCTTCTTCAAGAGCTGGAACCCCTGCAGGCTCAAGGTGTACAACCCCAGTACCCACCCCTCAAAACAGTCCTCCTTCTAGCCCTAGCATCAGCCGCCTGACCTCCAGAAGTTCCCAAGAGAGTCAGCGTCAGGCCCCAGAACTACTGGTTTCACCTGCCAGTGATGATATTCCCACAGTAGTAATTCATCCGCCTGAGGAAGACTTAGAAGCAGCGCTGAAAGGCGAGGAGCAGAAGAATGAGGAAAAT___AGCAGGGATTTGAACTCAG___GTATTTTGGCCTCTCCCCAGTCTGCTCCTGGAAACTTGGACAATAGTAAAAGTGGAGAAATTAAAGGTAATGGAAGTGGTGGAAGCAGAGAAAATAGTACTGTTGACTTCAGCAAG___GTTGATATGAATTTCATGAGAAAAATTCCTACGGGTGCTGAGGCATCCAACGTCCTGGTGGGCGAAGTAGACTTTTTGGAAAGGCCAATAATTGCATTTGTGAGACTGGCTCCTGCTGTCCTCCTTACAGGGTTGACTGAGGTCCCTGTTCCAACCAG___GTTTTTGTTTTTGTTATTGGGTCCAGCGGGCAAGGCACCACAGTACCATGAAATTGGACGATCAATAGCCACTCTCATGACAGATGAG___ATTTTCCATGATGTAGCTTATAAAGCAAAAGACAGAAATGACCTCTTATCTGGAATTGATGAATTTTTAGATCAAGTAACTGTCCTACCTCCAGGAGAGTGGGATCCTTCTATACGCATAGAACCACCAAAAAGTGTCCCTTCTCAG___GAAAAGAGAAAGATTCCTGTGTTTCACAATGGATCTACCCCCACACTGGGTGAGACTCCTAAAGAGGCCGCTCATCATGCTGGGCCTGAGCTACAGAGGACTGGACG___GCTTTTTGGTGGTTTGATACTTGACATCAAAAGGAAAGCACCTTTTTTCTTGAGTGACTTCAAGGATGCATTAAGCCTGCAGTGCCTGGCCTCGATTCTTTTCCTATACTGTGCCTGTATGTCTCCTGTAATCACTTTTGGAGGGCTGCTTGGAGAAGCTACAGAAGGCAGAATA___AGTGCAATAGAGTCTCTTTTTGGAGCATCATTAACTGGGATTGCCTATTCATTGTTTGCTGGGCAACCTCTAACAATATTGGGGAGCACAGGTCCAGTTCTAGTGTTTGAAAAAATTTTATATAAATTCTGCAG___AGATTATCAACTTTCTTATCTGTCTTTAAGAACCAGTATTGGTCTGTGGACTTCTTTTTTGTGCATTGTTTTGGTTGCAACAGATGCAAGCAGCCTTGTGTGTTATATTACTCGATTTACAGAAGAGGCTTTTGCAGCCCTTATTTGCATCATATTCATCTACGAGGCTTTGGAGAAGCTCTTTGATTTAGGAGAAACATATGCATTTAATATGCACAACAACTTAGATAAACTGACCAGCTACTC___ATGTGTATGTACTGAACCTCCAAACCCCAGCAATGAAACTCTAGCACAATGGAAGAAAGATAATATAACAGCACACAATATTTCCTGGAGAAATCTTACTGTTTCT___GAATGTAAAAAACTTCGTGGTGTATTCTTGGGGTCAGCTTGTGGTCATCATGGACCTTATATTCCAGATGTGCTCTTTTGGTGTGTCATCTTGTTTTTCACAACATTTTTTCTGTCTTCATTCCTCAAGCAATTTAAGACCAAGCGTTACTTTCCTACCAAG___GTGCGATCGACAATCAGTGATTTTGCTGTATTTCTCACAATAGTAATAATGGTTACAATTGACTACCTTGTAGGAGTTCCATCTCCTAAACTTCATGTTCCTGAAAAATTTGAG___CCTACTCATCCAGAGAGAGGGTGGATCATAAGCCCACTGGGAGATAATCCTTGGTGGACCTTATTAATAGCTGCTATTCCTGCTTTGCTTTGTACCATTCTCATCTTTATGGATCAACAAATCACAGCTGTAATTATAAACAGAAAGGAACACAAATTGAAG___AAAGGAGCTGGCTATCACCTTGATTTGCTCATGGTTGGCGTTATGTTGGGAGTTTGCTCTGTCATGGGACTTCCATGGTTTGTGGCTGCAACAGTGTTGTCAATAAGTCATGTCAACAGCTTAAAAGTTGAATCTGAATGTTCTGCTCCAGGGGAACAACCCAAGTTTTTGGGAATTCGTGAACAGCGGGTTACAGGGCTAATGATTTTTATTCTAATGGGCCTCTCTGTGTTCATGACTTCAGTCCTAAAG___TTTATTCCAATGCCTGTTCTGTATGGTGTTTTCCTTTATATGGGAGTTTCCTCATTAAAAGGAATCCAGGCAA___TG___TTATTTGACCGTATAAAATTATTTGGAATGCCTGCTAAGCATCAGCCTGATTTGATATACCTCCGTTATGTGCCGCTCTGGAAGGTCCATATTTTCACAGTCATTCAGCTTACTTGTTTGGTCCTTTTATGGGTGATA)AAAGTTTCAGCTGCTGCAGTGGTTTTTCCCATGATG___GTTCTTGCATTAGTGTTTGTGCGCAAACTCATGGACCTGTGTTTCACGAAGAGAGAACTTAGTTGGCTTGATGATCTTATGCCAGAAAGTAAGAAAAAGAAAGAAGATGACAAAAAGAAAAAAGAGAAAGAG___GAAGCTGAACGGATGCTTCAAGAcGATGATGATACTGTGCACCTTCCATTTGAAGGGGGAAGTCTCTTGCAAATTCCAGTCAAGGCCCTAAAATATAG|TGACAGCTACTTCTACAAGCTTGAGGAAGAAAAAATACTGGAAAGGAAATTAGTTCGAATCATTATTAATAGAACATTCAAGAGGAAATCTCCTATCCAACCACCATGGAATTTACCTGCTGT(___GATGAGGTTTTACAGGATGCCAAGTGCCACTCTAAAGCAAGGAACTAAACCATCTATACAGAAATTGCATTTGGGGTGCTCTTTTGCCAGCATTATTCCACTTCATCCTAAAAAAGAAAAG___GACACATCCTGGATATCCATAAGCAGCAGCCATGTTCCTTTGTTGGAGACACACATTCTGAATGTCTGGAGACCACTGCACTAGCATAAT___ATAATGTTTCTCAGAAAAATAATTTGCCAAGTGAGTTTGTGTGGCAGAACCTAAAGGCAAGTCCATGTCTCACGTGGAGCCAAGACCATGCTTTTTCCCATGTCTCACAGCCACTCTAGAGAACTTTTAGGAGACATTCAGTTGGCAG___TACGTGCATGACACTTTACCACCGAAGATTGTGTCTATTCTTCCATTGCCTTGAATTTGACCAGTAGTCACAAGGAGAGGCACTGGAGCACCAGATATATGAATGAAGAAACTACCTTGGCATCCAGCCTAGTTGAGCCTTTGGATAAGTCCAGCCTCAGCCCTATCATACTGCAACTGCATGAACGACCCCAAAGAAGAGCCATCCAG)$ MRPLLTRGPDEEAVVDLGKTSSTVNTKFEKEELESHRAVYIGVHVPFSKESRRRHRHRGHKHHHRRRKDKESDKEDGRESPSYDTPSQRVQFILGTEDDDEEHIPHDLFTEMDELCYRDGEEYEWKETARWLKFEEDVEDGGDRWSKPYVATLSLHSLFELRSCILNGTVMLDMRASTLDEIADMVLDNMIASGQLDESIRENVREALLKRHHHQNEKRFTSRIPLLVRITVRTREGLSASRHSLRTGLSASNLSLRGESPLSLLLGHLLPSSRAGTPAGSRCTTPVPTPQNSPPSSPSISRLTSRSSQESQRQAPELLVSPASDDIPTVVIHPPEEDLEAALKGEEQKNEENSRDLNSGILASPQSAPGNLDNSKSGEIKGNGSGGSRENSTVDFSKVDMNFMRKIPTGAEASNVLVGEVDFLERPIIAFVRLAPAVLLTGLTEVPVPTRFLFLLLGPAGKAPQYHEIGRSIATLMTDEIFHDVAYKAKDRNDLLSGIDEFLDQVTVLPPGEWDPSIRIEPPKSVPSQEKRKIPVFHNGSTPTLGETPKEAAHHAGPELQRTGRLFGGLILDIKRKAPFFLSDFKDALSLQCLASILFLYCACMSPVITFGGLLGEATEGRISAIESLFGASLTGIAYSLFAGQPLTILGSTGPVLVFEKILYKFCRDYQLSYLSLRTSIGLWTSFLCIVLVATDASSLVCYITRFTEEAFAALICIIFIYEALEKLFDLGETYAFNMHNNLDKLTSYSCVCTEPPNPSNETLAQWKKDNITAHNISWRNLTVSECKKLRGVFLGSACGHHGPYIPDVLFWCVILFFTTFFLSSFLKQFKTKRYFPTKVRSTISDFAVFLTIVIMVTIDYLVGVPSPKLHVPEKFEPTHPERGWIISPLGDNPWWTLLIAAIPALLCTILIFMDQQITAVIINRKEHKLKKGAGYHLDLLMVGVMLGVCSVMGLPWFVAATVLSISHVNSLKVESECSAPGEQPKFLGIREQRVTGLMIFILMGLSVFMTSVLKFIPMPVLYGVFLYMGVSSLKGIQAMLFDRIKLFGMPAKHQPDLIYLRYVPLWKVHIFTVIQLTCLVLLWVIKVSAAAVVFPMMVLALVFVRKLMDLCFTKRELSWLDDLMPESKKKKEDDKKKKEKEEAERMLQDDDDTVHLPFEGGSLLQIPVKALKYs|dsyfykleeekilerklvriiinrtfkrkspiqppwnlpavmrfyrmpsatlkqgtkpsiqklhlgcsfasiiplhpkkekdtswisissshvpllethilnvwrplh* 11CO053 ENSG00000221874.4 ENSG00000269082.1 -/- -/- chr19:52952751 chr19:52970842 CDS/splice-site exon/splice-site duplication 6 3 0 43 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000221874.4 ENSG00000269082.1 ENST00000391777.3 ENST00000600068.1 upstream downstream mismappers(1) ^(AGTTGTCTGGTGCTGCTATATAGGGGACGTGGGGTCCCCACAGACCTGCAGGTTC)CGGCCCCTCTTTTCTCAACCCAGAGCAAATTGAAACGTCCGGGTGAGAGTCC___GATaTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGATGGCTCTTCCTCAG___GGACGCTTGACTTTCAGGGATGTGGCTATAGAGTTCTCTTTGGAGGAGTGGAAATGCCTGAACCCTGCACAGAGGGCTTTATACAGGGCTGTGATGTTGGAGAACTACAGGAACCTGGAGTTTGTGG|CTATCTCTTCCAAATGCATGACAAGGAAGTTCTCATCAAGAAGGCAAGGCAATACAGAAGTGTTCCACACAGGGACATTGCAAAGACAAGCAAGTCATCACACTGGAGATTTTTCCTTCCAGGAAATTGAGAAAGATTTTCAGGACTTTGAGTTTCAGTGGCAAGAAGATGAAAGAAATGGCCATGAAGCACTCATGACAGAGATAAAAAAGTTGACAG(___GATTTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGA)$ MLREEATKKSKEKEPGMALPQGRLTFRDVAIEFSLEEWKCLNPAQRALYRAVMLENYRNLEFV|aisskcmtrkfssrrqgntevfhtgtlqrqashhtgdfsfqeiekdfqdfefqwqedernghealmteikkltgfpkthvt* 11CO053 ENSG00000180257.13 ENSG00000269082.1 -/- -/- chr19:52952751 chr19:52970842 CDS/splice-site exon/splice-site duplication 6 3 0 43 26 high out-of-frame . KRAB_box(98%)| . . ENSG00000180257.13 ENSG00000269082.1 ENST00000444460.6 ENST00000600068.1 upstream downstream mismappers(1) ^(CACAGACCCGGAAGCGGATGGCGTGGACTGAAAGTTGCACGGCGGCGTGTGCGTTTCCTAGTTGTCTGGTGCTGCTATATAGGGGACGTGGGGTCCCCACAGACCTGCAGGTTC)CGGCCCCTCTTTTCTCAACCCAGAGCAAATTGAAACGTCCGGGTGAGAGTCC___GATaTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGATGGCTCTTCCTCAG___GGACGCTTGACTTTCAGGGATGTGGCTATAGAGTTCTCTTTGGAGGAGTGGAAATGCCTGAACCCTGCACAGAGGGCTTTATACAGGGCTGTGATGTTGGAGAACTACAGGAACCTGGAGTTTGTGG|CTATCTCTTCCAAATGCATGACAAGGAAGTTCTCATCAAGAAGGCAAGGCAATACAGAAGTGTTCCACACAGGGACATTGCAAAGACAAGCAAGTCATCACACTGGAGATTTTTCCTTCCAGGAAATTGAGAAAGATTTTCAGGACTTTGAGTTTCAGTGGCAAGAAGATGAAAGAAATGGCCATGAAGCACTCATGACAGAGATAAAAAAGTTGACAG(___GATTTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGA)$ MLREEATKKSKEKEPGMALPQGRLTFRDVAIEFSLEEWKCLNPAQRALYRAVMLENYRNLEFV|aisskcmtrkfssrrqgntevfhtgtlqrqashhtgdfsfqeiekdfqdfefqwqedernghealmteikkltgfpkthvt* 11CO053 ENSG00000180257.13 ENSG00000242779.7 -/- -/- chr19:52952751 chr19:52970842 CDS/splice-site exon/splice-site duplication 6 2 0 43 26 high out-of-frame . KRAB_box(98%)| . . ENSG00000180257.13 ENSG00000242779.7 ENST00000444460.6 ENST00000600425.5 upstream downstream mismappers(1) ^(CACAGACCCGGAAGCGGATGGCGTGGACTGAAAGTTGCACGGCGGCGTGTGCGTTTCCTAGTTGTCTGGTGCTGCTATATAGGGGACGTGGGGTCCCCACAGACCTGCAGGTTC)CGGCCCCTCTTTTCTCAACCCAGAGCAAATTGAAACGTCCGGGTGAGAGTCC___GATaTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGATGGCTCTTCCTCAG___GGACGCTTGACTTTCAGGGATGTGGCTATAGAGTTCTCTTTGGAGGAGTGGAAATGCCTGAACCCTGCACAGAGGGCTTTATACAGGGCTGTGATGTTGGAGAACTACAGGAACCTGGAGTTTGTGG|CTATCTCTTCCAAATGCATGACAAGGAAGTTCTCATCAAGAAGGCAAGGCAATACAGAAGTGTTCCACACAGGGACATTGCAAAGACAAGCAAGTCATCACACTGGAG(ATTTTTCCTTCCAGGAAATTGAGAAAGATTTTCAGGACTTTGAGTTTCAGTGGCAAGAAGATGAAAGAAATGGCCATGAAGCACTCATGACAGAGATAAAAAAGTTGACAGGTAATACAGACTGATATGATCAAAGGCATGCTGGAAACAAACCTATTAAAGATCAGCTTGGATCAAGCTTTCATTCACATCTGCCTGAACTGCATATATTGCAGAGCAAAGGGAAAATTGATAGTCAAGATGAGAAGTCTGTCAATGATGCTTCCTCAGTTTCAGCATCCCAAAGAATT)$ MLREEATKKSKEKEPGMALPQGRLTFRDVAIEFSLEEWKCLNPAQRALYRAVMLENYRNLEFV|aisskcmtrkfssrrqgntevfhtgtlqrqashhtgdfsfqeiekdfqdfefqwqedernghealmteikkltgntd* 11CO053 ENSG00000221874.4 ENSG00000242779.7 -/- -/- chr19:52952751 chr19:52970842 CDS/splice-site exon/splice-site duplication 6 2 0 43 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000221874.4 ENSG00000242779.7 ENST00000391777.3 ENST00000600425.5 upstream downstream mismappers(1) ^(AGTTGTCTGGTGCTGCTATATAGGGGACGTGGGGTCCCCACAGACCTGCAGGTTC)CGGCCCCTCTTTTCTCAACCCAGAGCAAATTGAAACGTCCGGGTGAGAGTCC___GATaTCCAAAGACTCATGTTACGTGAGGAAGCCACCAAGAAGAGCAAAGAAAAGGAGCCAGGGATGGCTCTTCCTCAG___GGACGCTTGACTTTCAGGGATGTGGCTATAGAGTTCTCTTTGGAGGAGTGGAAATGCCTGAACCCTGCACAGAGGGCTTTATACAGGGCTGTGATGTTGGAGAACTACAGGAACCTGGAGTTTGTGG|CTATCTCTTCCAAATGCATGACAAGGAAGTTCTCATCAAGAAGGCAAGGCAATACAGAAGTGTTCCACACAGGGACATTGCAAAGACAAGCAAGTCATCACACTGGAG(ATTTTTCCTTCCAGGAAATTGAGAAAGATTTTCAGGACTTTGAGTTTCAGTGGCAAGAAGATGAAAGAAATGGCCATGAAGCACTCATGACAGAGATAAAAAAGTTGACAGGTAATACAGACTGATATGATCAAAGGCATGCTGGAAACAAACCTATTAAAGATCAGCTTGGATCAAGCTTTCATTCACATCTGCCTGAACTGCATATATTGCAGAGCAAAGGGAAAATTGATAGTCAAGATGAGAAGTCTGTCAATGATGCTTCCTCAGTTTCAGCATCCCAAAGAATT)$ MLREEATKKSKEKEPGMALPQGRLTFRDVAIEFSLEEWKCLNPAQRALYRAVMLENYRNLEFV|aisskcmtrkfssrrqgntevfhtgtlqrqashhtgdfsfqeiekdfqdfefqwqedernghealmteikkltgntd* 11CO053 ENSG00000141564.15 ENSG00000272462.3 +/+ +/- chr17:80625793 chr6:25999229 CDS/splice-site exon translocation/5'-5' 3 2 0 17 12 high out-of-frame . Raptor_N-terminal_CASPase_like_domain(100%)| . . ENSG00000141564.15 ENSG00000272462.3 ENST00000306801.8 . downstream downstream . ^(GTCCTGGCAATATGGCGTCCTCCTTGATGGGCTGATGAGATGAGTTTCACTGTAGCTCCAAACCAGAGGGCAAAGCTCCCATGACCCAATAAGCCCACATTGTCCCTTTCCTCCGTGGTTCCGTGTCGCCCGTTTCTCAGGACTCGTTCTCAGGCAGGAGAGAGCCTCGGGGCTGAAGGCCAGGACCAGCCAGGCCGCGCGGACCTGAGGTTGAGGAACCGGGTGCAGGCGAGCACGATGGGCCGGTCGTGGCTCTGGTTGCAGCAGCTCAGACGAGTGCGGGACCCGCAGGGCTGAGAGTGGCTGGAGGAGACCCAGGGCCCTTTGAACCCGATCCCTTGGCCGGAGACCTCAGCCCAGTCGGCCCAGTGGGCGAACCGGCACCAAGAGCGGCCTGCCTGTCTTCGGAACTGCTGAGGCGGTGGAGGCCGAGAGCAGGGTCATCGTGAGGCCTGAAGTCTCTTACGCTTTTGGCAGCTCCCCTCGCAGCCCCTCTGGAAACGTACAGCCTCAGGAGCAGCCAGTGGCTTGGGACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGCCCCATTTCCTAGCGGCCCCCACCTCCCCACTTCCCGCTCAGAGTTAGAGATAAGGATCTCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTATCCATTTGGTTTTCGATTTCCCGTTTTTGTTTCTTATTTCACCAATTCTGGTACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTGCTGCCAAGGACTCCCCCACCCCCTCCCCCACTGATGGAGTCCGAAATGCTGCAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCTGATCTTACAGA)CTGGAACCTACCTTTGGCTTTTATGAAAAAGAGGCACTGTGAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGGAGGATGAAGGATCGG___ATGAAGACAGTCAGTGTTGCCTTAGTTTTGTGCCTGAATGTTGGTGTGGACCCTCCCGATGTGGTGAAGACgACGCCCTGTGCACGCTTGGAATGCTGGATCG|GAGGTGATGGCCGGAAGAACATGGCAGAGGGCAAAACAAAACAGCATTGGGAACAAGCTCTGTTTAAAAGGAGACTTGTGAACAGCAAAGAGTAGAAAGGGTTCTCTTACAACTGAAGCCCATGGAAGACAAATGTGTACTGCGTGAGTTTTAAGGCAATAGGAGTAGTGGGACCTAGGGCACACCAGAG MESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDPPDVVKTTPCARLECWI|ggdgrknmaegktkqhweqalfkrrlvnske* 11CO053 ENSG00000183840.7 ENSG00000235615.2 +/+ -/+ chr2:132417898 chr2:131971800 CDS/splice-site intron duplication/5'-5' 2 3 0 16 10 high out-of-frame . 7_transmembrane_receptor_(rhodopsin_family)(100%)| . . ENSG00000183840.7 ENSG00000235615.2 ENST00000329321.4 . downstream upstream . ^(ACATACACTCCCAAACCTCAACACCCAGGCGCCTCCTGGGCCTCTCCTAGGTTGGGCTGCTCCAGCAAGTTTCCATGAAAGCACCTGAAATACTAAGTTACCTTCGCGAGGAGAACTCGAGTGAGATAAAATCGTGCGCCCACGCAGGTGAGTTTGCAGCCAAGAATTTTGGACGCTGCTGGGAGGAGAAAGGGAAGTTGAGAAAGTCTTTGGACCTGGTAGCCTGGTGCTCTTTCTCATGGCTTCACCCAGCCTCCCGGGCAGTGACTGCTCCCAAATCATTGATCACAGTCATGTCCCCGAGTTTGAGGTGGCCACCTGGATCAAAATCACCCTTATTCTGGTGTACCTGATCATCTTCGTGATGGGCCTTCTGGGGAACAGCGCCACCATTCGGGTCACCCAGGTGCTGCAGAAGAAAGGATACTTGCAGAAGGAGGTGACAGACCACATGGTGAGTTTGGCTTGCTCGGACATCTTGGTGTTCCTCATCGGCATGCCCATGGAGTTCTACAGCATCATCTGGAATCCCCTGACCACGTCCAGCTACACCCTGTCCTGCAAGCTGCACACTTTCCTCTTCGAGGCCTGCAGCTACGCTACGCTGCTGCACGTGCTGACACTCAGCTTTGAGCGCTACATCGCCATCTGTCACCCCTTCAGGTACAAGGCTGTGTCGGGACCTTGCCAGGTGAAGCTGCTGATTGGCTTCGTCTGGGTCACCTCCGCCCTGGTGGCACTGCCCTTGCTGTTTGCCATGGGTACTGAGTACCCCCTGGTGAACGTGCCCAGCCACCGGGGTCTCACTTGCAACCGCTCCAGCACCCGCCACCACGAGCAGCCCGAGACCTCCAATATGTCCATCTGTACCAACCTCTCCAGCCGCTGGACCGTGTTCCAGTCCAGCATCTTCGGCGCCTTCGTGGTCTA)CCTCGTGGTCCTGCTCTCCGTAGCCTTCATGTGCTGGAACATGATGCAGGTGCTCATGAAAAGCCAGAAGGGCTCGCTGGCCGGGGGCACGCGGCCTCCGCAGCTGAGGAAGTCCGAGAGCGAAGAGAGCAGGACCGCCAGGAGGCAGACCATCATCTTCCTGA|GGAAAATGAAAGCAGCCAAAAGAGAATTTCCTGATGCTCCCACCATCAAATCCACCAGCATACCTGCATCTGAAATCACATTCTTTGCTTTCCTTCCTTTGAGAGTGGCTGGTCTGTCAGTATTTCTAGCAAAGACCACACCACATCCTATCCTCTTACCAGAGAGCATTTTCCTGAAAATGACCATTTCTGCATTCCCC MASPSLPGSDCSQIIDHSHVPEFEVATWIKITLILVYLIIFVMGLLGNSATIRVTQVLQKKGYLQKEVTDHMVSLACSDILVFLIGMPMEFYSIIWNPLTTSSYTLSCKLHTFLFEACSYATLLHVLTLSFERYIAICHPFRYKAVSGPCQVKLLIGFVWVTSALVALPLLFAMGTEYPLVNVPSHRGLTCNRSSTRHHEQPETSNMSICTNLSSRWTVFQSSIFGAFVVYLVVLLSVAFMCWNMMQVLMKSQKGSLAGGTRPPQLRKSESEESRTARRQTIIFL|rkmkaakrefpdaptikstsipaseitffaflplrvaglsvflakttphpillpesiflkmtisaf 11CO053 ENSG00000164308.17 ENSG00000182132.13 +/+ +/+ chr5:96915769 chr5:170669499 CDS/splice-site 5'UTR/splice-site deletion 2 2 0 101 11 high out-of-frame . ERAP1-like_C-terminal_domain(100%),Peptidase_family_M1_domain(100%)|EF-hand_domain_pair(100%) . . ENSG00000164308.17 ENSG00000182132.13 ENST00000437043.8 ENST00000390656.8 downstream upstream . ^(AGTCAAATCTGCAGCAGCATGATTTAAG___ATTAAATTCATGTATTGAAAATATTGTTCAGACCCCATGTGACATAACTGGAGCCAGTGCAGTGCCATGAAGAACTACGAGATTAGCCTGGATATTAACTTGTCTTCTAGAGAATAGATTTCATGTTCCATTCTTCTGCAATGGTTAATTCACACAGAAAACCAATGTTTAACATTCACAGAGGATTTTACTGCTTAACAGCCATCTTGCCCCAAATATGCATTTGTTCTCAGTTCTCAGTGCCATCTAGTTATCACTTCACTGAGGATCCTGGGGCTTTCCCAGTAGCCACTAATGGGGAACGATTTCCTTGGCAGGAGCTAAGGCTCCCCAGTGTGGTCATTCCTCTCCATTATGACCTCTTTGTCCACCCCAATCTCACCTCTCTGGACTTTGTTGCATCTGAGAAGATCGAAGTCTTGGTCAGCAATGCTACCCAGTTTATCATCTTGCACAGCAAAGATCTTGAAATCACGAATGCCACCCTTCAGTCAGAGGAAGATTCAAGATACATGAAACCAGGAAAAGAACTGAAAGTTTTGAGTTACCCTGCTCATGAACAAATTGCACTGCTGGTTCCAGAGAAACTTACGCCTCACCTGAAATACTATGTGGCTATGGACTTCCAAGCCAAGTTAGGTGATGGCTTTGAAGGGTTTTATAAAAGCACATACAGAACTCTTGGTGGTGAAACAAG___AATTCTTGCAGTAACAGATTTTGAGCCAACCCAGGCACGCATGGCTTTCCCTTGCTTTGATGAACCGTTGTTCAAAGCCAACTTTTCAATCAAGATACGAAGAGAGAGCAGGCATATTGCACTATCCAACATGCCAAAG___GTTAAGACAATTGAACTTGAAGGAGGTCTTTTGGAAGATCACTTTGAAACTACTGTAAAAATGAGTACATACCTTGTAGCCTACATAGTTTGTGATTTCCACTCTCTGAGTGGCTTCACTTCATCAGGGGTCAAG___GTGTCCATCTATGCATCCCCAGACAAACGGAATCAAACACATTATGCTTTGCAGGCATCACTGAAGCTACTTGATTTTTATGAAAAGTACTTTGATATCTACTATCCACTCTCCAAACTGG___ATTTAATTGCTATTCCTGACTTTGCACCTGGAGCCATGGAAAATTGGGGCCTCATTACATATAGGGAGACGTCACTGCTTTTTGACCCCAAGACCTCTTCTGCTTCCGATAAACTGTGGGTCACCAGAGTCATAGCCCATGAACTGGCGCACCAG___TGGTTTGGCAACCTGGTCACAATGGAATGGTGGAATGATATTTGGCTTAAGGAGGGTTTTGCAAAATACATGGAACTTATCGCTGTTAATGCTACATATCCAGAGCTGCAATTT___GATGACTATTTTTTGAATGTGTGTTTTGAAGTAATTACAAAAGATTCATTGAATTCATCCCGCCCTATCTCCAAACCAGCGGAAACCCCGACTCAAATACAGGAAATGTTTGATGAAGTTTCCTATAACAAG___GGAGCTTGTATTTTGAATATGCTCAAGGATTTTCTGGGTGAGGAGAAATTCCAGAAAGGAATAATTCAGTACTTAAAGAAGTTCAGCTATAGAAATGCTAAGAATGATGACTTGTGGAGCAGTCTGTCAAAT___AGTTGTTTAGAAAGTGATTTTACATCTGGTGGAGTTTGTCATTCGGATCCCAAGATGACAAGTAACATG___CTCGCCTTTCTGGGGGAAAATGCAGAGGTCAAAGAGATGATGACTACATGGACTCTCCAGAAAGGAATCCCCCTGCTGGTGGTTAAACAAGACGGGTGTTCACTCCGACTGCAACAGGAGCGCTTCCTCCAGGGGGTTTTCCAGGAAGACCCTGAATGGAGGGCCCTGCAGGAGAG___GTACCTGTGGCATATCCCATTGACCTACTCCACGAGTTCTTCTAATGTGATCCACAGACACATTCTAAAATCAAAGACAG___ATACTCTGGATCTACCTGAAAAGACCAGTTGGGTGAAATTTAATGTGGACTCAAATGGTTACTACATCGTTCACTATGAGGGTCATGGATGGGACCAACTCATTACACAGCTGAATCAGAACCACACACTTCTCAGACCTAAGGACAGAGTAGGTCTGATTCATGATGTGTTTCAGCTAGTTGG___TGCAGGGAGACTGACCCTAGACAAAGCTCTTGACATGACTTACTACCTCCAACATGAAACAAGCAGCCCCGCACTTCTCGAAGGTCTGAGTTACTTGGAATCGTTTTACCACATGATGGACAGAAGGAATATTTCAGATATCTCTGAAAACCTCAAG___CGTTACCTTCTTCAGTATTTTAAGCCAGTGATTGACAGGCAAAGCTGGAGTGACAAGGGCTCAGTCTGGGACAGGATGCTCCGCTCGGCTCTCTTGAAGCTGGCCTGTGACCTGAACCATGCTCCTTGCATCCAGAAAGCTGCTGAACTCTTCTCCCAGTGGATGGAATCCAGTGGAAAATTAAA___TATACCAACAGATGTTTTAAAGATTGTGTATTCTGTGGGTGCTCAGACAACAGCAGGATGGAATTACCTTTTAGAGCAATATGAACTGTCAATGTCAAGTGCTGAACAAAACAAAATTCTGTATGCTTTGTCAACGAGCAAGCATCAGGAAAAGTTACTGAA___GTTAATTGAACTAGGAATGGAAGGAAAGGTTATCAAGACACAGAACTTGGCAGCTCTCCTTCATGCGATTGCCAGACGTCCAAA)GGGGCAGCAACTAGCATGGGATTTTGTAAGAGAAAATTGGACCCATCTTCTGAAAAA___ATTTGACTTGGGCTCATATGACATAAGGATGATCATCTCTGGCACAACAGCTCACTTTTCTTCCAAGGATAAGTTGCAAGAG|AACTACCTTAAATTAATTTGTTGAAAGGACAGATGGATGGATGGTTGATGGAAGTAGCAGGCTTCCAGCAGCAGGGGATGGAGTGAGTGTGTGGATACCGCTGGATCAGCAGAAGGTTATACCATTTTAGAGTAACTATCTCGGACTTCGGAGAGTTCCTG(G___ATAAGATTGAAGATGAGCTGGAGATGACCATGGTTTGCCATCGGCCCGAGGGACTGGAGCAGCTCGAGGCCCAGACCAACTTCACCAAGAGGGAGCTGCAGGTCCTTTATCGAGGCTTCAAAAAT___GAGTGCCCCAGTGGTGTGGTCAACGAAGACACATTCAAGCAGATCTATGCTCAGTTTTTCCCTCATGGAG___CCCTGCCTTGTTTGGAAGGTTCTCCCTGTGTGGAATTCCTGCCCCCATCACCTGCCCTCCTTTTCTGCCTTGTAGATGCCAGCACGTATGCCCATTACCTCTTCAATGCCTTCGACACCACTCAGACAGGCTCCGTGAAGTTCGAG___GACTTTGTAACCGCTCTGTCGATTTTATTGAGAGGAACTGTCCACGAGAAACTAAGGTGGACATTTAATTTGTATGACATCAACAAGGACGGATACATAAACAAAGAG___GAGATGATGGACATTGTCAAAGCCATCTATGACATGATGGGGAAATACACATATCCTGTGCTCAAAGAGGACACTCCAAGGCAGCATGTGGACGTCTTCTTCCAG___AAAATGGACAAAAATAAAGATGGCATCGTAACTTTAGATGAATTTCTTGAATCATGTCAGGAG___GACGACAACATCATGAGGTCTCTCCAGCTGTTTCAAAATGTCATGTAACTGGTGACACTCAGCCATTCAGCTCTCAGAGACATTGTACTAAACAACCACCTTAACACCCTGATCTGCCCTTGTTCTGATTTTACACACCAACTCTTGGGACAGAAACACCTTTTACACTTTGGAAGAATTCTCTGCTGAAGACTTTCTATGGAACCCAGCATCATGTGGCTCAGTCTCTGATTGCCAACTCTTCCTCTTTCTTCTTCTTGAGAGAGACAAGATGAAATTTGAGTTTGTTTTGGAAGCATGCTCATCTCCTCACACTGCTGCCCTATGGAAGGTCCCTCTGCTTAAGCTTAAACAGTAGTGCACAAAATATGCTGCTTACGTGCCCCCAGCCCACTGCCTCCAAGTCAGGCAGACCTTGGTGAATCTGGAAGCAAGAGGACCTGAGCCAGATGCACACCATCTCTGATGGCCTCCCAAACCAATGTGCCTGTTTCTCTTCCTTTGGTGGGAAGAATGAGAGTTATCCAGAACAATTAGGATCTGTCATGACCAGATTGGGAGAGCCAGCACCTAACATATGTGGGATAGGACTGAATTATTAAGCATGATATTGTCTGATGACCCAAACTGCCCATGTCATTTGTTTCCAGAAACGAGGACCAATAATTCTCTCACACTGGCATTTGTGCTGGTAGTACAAGTCCTTTAATATGTCCAGGAAGGGAGCCATTGCCCAGTGGTCCATATCTCCACCACATCCCCTGCTTGAGCCCAGCGCTGCATGTCCCTCCCAAGAAGTCCAGAATGCCTGCAAATTGCTGTAATTTTATACCATGTTCTAACCAATAAACAGAACTATTTCTTACACTCTC)$ MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDLFVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHLKYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVKTIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNVCFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQYLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVIHRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRVGLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISENLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISGTTAHFSSKDKLQE|nylklic* 11CO053 ENSG00000253729.8 ENSG00000164808.17 -/- +/- chr8:47957171 chr8:47400008 CDS/splice-site intron deletion/5'-5' 1 1 0 18 3 medium out-of-frame . . . . ENSG00000253729.8 ENSG00000164808.17 ENST00000314191.7 . upstream downstream . ^(ACTCGGCGGCATGGCGGGCTCCGGAGCCGGTGTGCGTTGCTCCCTGCTGCGGCTGCAGGAGACCTTGTCCGCTGCGG)ACCGCTGCGGTGCTGCCCTGGCCGGTCATCAACTGATCCGCGGCCTGGGGCAGGAATGCGTCCTGAGCAGCAGCCCCGCGGTGCTGG___AAAAAATGGGCCAGAAGATCGCACCTTACTCTGTTGAAATTAAG|TGCCCGCCgAGCTCCAAGATGGTGTCCTCCACTCGCCTCAGCCACTCTAATCTTGAAGTCCCGAACTGCCTCCCTCCAGCGGCTCAACTCTGGGCGCCCGTCATCGTTACTGCCCCAGCTCATCACCTCTAGTAGCGTTACTCT___GAAACTACAAGACAGTACCACACATAGAGGCAATCTCCAAAAC MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLEKMGQKIAPYSVEIK|cppsskmvsstrlshsnlevpnclppaaqlwapvivtapahhl* 11CO054 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 22 21 0 50 67 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(2) CCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGG?GCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO054 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 11 0 27 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(4),inconsistently_clipped(1),mismappers(1) AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACC(GCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO054 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 3 1 138 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO054 ENSG00000112118.20 ENSG00000146386.8(10385),ENSG00000112406.5(81393) -/- ./+ chr6:52272301 chr6:139053687 CDS/splice-site intergenic inversion 5 4 0 239 15 high out-of-frame . MCM2/3/5_family(100%),MCM_N-terminal_domain(100%)| . . ENSG00000112118.20 . ENST00000616552.4 . upstream upstream . ^(GAAGAAGAAGAAGCTTTTGATTGGACAGTCGCTAGTCCGACCTCAGAGAACTCAGCCAATCATAATGCTTATATGCTCCCAAGGTCCCCGCCTCTTCCTCGAGGTAACCTTTGGTGGCGGGAAGAGTTCGGAAGTTTTCGCGCCGGGGTGGAGTCATCCTGGGAACCTCCACGCGACTTTGGTGGAGGTAGTTCTTTGGCAGCGGGCATGGCGGGTACCGTGGTGCTGGACGATGTGGAGCTGCGGGAGGCTCAGAGAGATTACCTGGACTTCCTGGACGACGAG___GAAGACCAGGGAATTTATCAGAGCAAAGTTCGGGAGCTGATCAGTGACAACCAATACCGGCTGATTGTCAATGTGAATGACCTGCGCAGGAAAAACGAGAAGAGGGCTAACCG___GCTTCTGAACAATGCCTTTGAGGAGCTGGTTGCCTTCCAGCGGGCCTTAAAGGATTTTGTGGCCTCCATTGATGCTACCTATGCCAAGCAGTATGAGGAGTTCTACGTAGGACTGGAAGGCAGCTTTGGCTCCAAGCACGTCTCCCCGCGGACTCTTACCTCCTGCTTCCTCAGCTGTGTGGTCTGTGTGGAGGGCATTGTCACTAAAT___GTTCTCTAGTTCGTCCCAAAGTCGTCCGCAGTGTCCACTACTGTCCTGCTACTAAGAAGACCATAGAGCGACGTTATTCTGATCTCACCACCCTGGTGGCCTTTCCCTCCAGCTCTGTCTATCCTACCAAG___GATGAGGAGAACAATCCCCTTGAGACAGAATATGGCCTTTCTGTCTACAAGGATCACCAGACCATCACCATCCAGGAGATGCCGGAGAAGGCCCCAGCCGGCCAGCTCCCCCGCTCTGTGGACGTCATTCTGGATGATGACTTGGTGGATAAAGCGAAGCCTGGTGACCGGGTTCAGGTGGTGGGAACCTACCGTTGCCTTCCTGGAAAGAAGGGAGGCTACACCTCTGGGACCTTCAG___GACTGTCCTGATTGCCTGTAATGTTAAGCAGATGAGCAAGGATGCTCAGCCCTCTTTCTCTGCTGAGGATATAGCCAAGATCAAGAAGTTCAGTAAAACCCGATCCAAG___GATATCTTTGACCAGCTGGCCAAGTCATTGGCCCCAAGTATCCATGGGCATGACTATGTCAAGAAAGCAATCCTCTGCTTGCTCTTGGGAGGGGTGGAACGAGACCTAGAAAATGGCAGCCACATCCGTGGGGACATCAATATTCTTCTAATAG___GAGACCCATCCGTTGCCAAGTCTCAGCTTCTGCGGTATGTGCTTTGCACTGCACCCCGAGCTATCCCCACCACTGGCCGGGGCTCCTCTGGAGTGGGTCTGACGGCTGCTGTCACCACAGACCAGGAAACAG___GAGAGCGCCGTCTGGAAGCAGGGGCCATGGTCCTGGCTGACCGAGGCGTGGTTTGCATTGATGAATTTGACAAAATGTCTGACATGGATCGCACAGCCATCCATGAAGTGATGGAGCAGGGTCGAGTGACCATTGCCAAGGCTGGCATCCATGCTCGGCTGAATGCCCGCTGCAGTGTTTTGGCAGCTGCCAACCCTGTCTACGGCAGG___TATGACCAGTATAAGACTCCAATGGAGAACATTGGGCTACAGGACTCACTGCTGTCACGATTTGACTTGCTCTTCATCATGCTGGATCAGATGGATCCTGAGCAGGATCGGGAGATCTCAGACCATGTCCTTCGGATGCACCGTTACAGAGCACCTGGGGAGCAGGATGGCGATG___CTATGCCCTTGGGTAGTG)CTGTGGATATCCTGGCCACAGATGATCCCAACTTTAGCCAGGAAGATCAGCAGGACACCCAGATTTATGAGAAGCATGACAACCTTCTACATGGGACCAAGAAGAAAAA___GGAGAAGATGGTGAGTGCAGCATTCATGAAGAAGTACATCCATGTGGCCAAAATCATCAAGCCTGTCCTGACACAGGAGTCGGCCACCTACATTGCAGAAGAGTATTCACGCCTGCGCAGCCAGGATAGCATGAGCTCAGACACCGCCAGG|CATCTAGGGCATCCTGGCAGAGAGGAGGATCAAGAAAGAAGGTATAGTGTGCCAGGAGAAACCCAGGAAGATCTCGTCACTGGGAAATGTGGGATTTAGGCCACTGGAAAATATAACCTAGGCTCCTTATGTTTTATTTCACATGAGTGTGTTCTGAAG MLPRSPPLPRGNLWWREEFGSFRAGVESSWEPPRDFGGGSSLAAGMAGTVVLDDVELREAQRDYLDFLDDEEDQGIYQSKVRELISDNQYRLIVNVNDLRRKNEKRANRLLNNAFEELVAFQRALKDFVASIDATYAKQYEEFYVGLEGSFGSKHVSPRTLTSCFLSCVVCVEGIVTKCSLVRPKVVRSVHYCPATKKTIERRYSDLTTLVAFPSSSVYPTKDEENNPLETEYGLSVYKDHQTITIQEMPEKAPAGQLPRSVDVILDDDLVDKAKPGDRVQVVGTYRCLPGKKGGYTSGTFRTVLIACNVKQMSKDAQPSFSAEDIAKIKKFSKTRSKDIFDQLAKSLAPSIHGHDYVKKAILCLLLGGVERDLENGSHIRGDINILLIGDPSVAKSQLLRYVLCTAPRAIPTTGRGSSGVGLTAAVTTDQETGERRLEAGAMVLADRGVVCIDEFDKMSDMDRTAIHEVMEQGRVTIAKAGIHARLNARCSVLAAANPVYGRYDQYKTPMENIGLQDSLLSRFDLLFIMLDQMDPEQDREISDHVLRMHRYRAPGEQDGDAMPLGSAVDILATDDPNFSQEDQQDTQIYEKHDNLLHGTKKKKEKMVSAAFMKKYIHVAKIIKPVLTQESATYIAEEYSRLRSQDSMSSDTAR|hlghpgreedqerrysvpgetqedlvtgkcgi* 11CO054 ENSG00000183726.11 ENSG00000117643.14 +/+ +/+ chr1:25338456 chr1:25746668 5'UTR/splice-site CDS/splice-site deletion 0 2 0 152 10 medium . . |Glycosyl_hydrolase_family_47(100%) . . ENSG00000183726.11 ENSG00000117643.14 ENST00000374358.5 ENST00000374332.8 downstream upstream duplicates(1),mismatches(1) ^(ACTGCTGCATCCGGGTGT)CTGGAGGCTGTGGCCGTTTTGTTTTCTTGGCTAAAATCGGGGGAGTGAGGCGGGCCGGCGCGGCGCGACACCGGGCTCCGGAACCACTGCACGACGGGGCTGGAC|GAGGCCTCAGCGGGGCAACAGTCATTGACTCCCTCGATACCCTCTACCTCATGGAGCTGAAGGAGGAGTTCCAGGAGGCCAAGGCCTGGGTGGGAGAGAGCTTCCACCTGAACGTG___AGCGGAGAAG(CATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAG___GTGTTCCGAATAAAGGCCATCAGGCTGGGAGAGAAGCTCCTGCCGGCGTTCAACACCCCCACGGGAATCCCAAAGGGCGTGGTGAGCTTCAAAAG___TGGGAACTGGGGCTGGGCCACAGCCGGCAGCAGCAGCATCTTGGCGGAGTTTGGATCCCTGCACTTGGAATTCTTACACCTCACTGAACTCTCTGGCAACCAGGTCTTCGCTGAAAAG___GTCAGGAACATCCGCAAGGTCCTCAGGAAGATCGAAAAGCCCTTTGGCCTCTACCCCAACTTCCTCAGCCCAGTGAGTGGGAACTGGGTGCAAC___ACCATGTCTCAGTTGGAGGACTCGGGGACAGTTTTTATGAATATTTGATCAAATCCTGGTTGATGTCGGGCAAGACAGATATGGAGGCTAAAAATATGTACTACGAAGCCTTGGAG___GCGATAGAGACCTACTTGCTGAATGTCTCTCCCGGGGGGCTGACCTACATTGCCGAGTGGCGAGGGGGGATTCTGGACCACAAGATGGGGCACCTGGCCTGTTTCTCCGGGGGCATGATCGCCCTTGGCGCCGAGGATGCCAAGGAAGAAAAGAGGGCCCACTACCGAGAGCTCGCAGCCCAGATCACCAAGACGTGTCACGAGTCATACGCCCGCTCAG___ACACCAAACTTGGGCCTGAGGCCTTCTGGTTTAACTCCGGCAGAGAGGCCGTGGCCACCCAGCTGAGCGAGAGCTACTACATCCTCCGGCCAGAGGTGGTGGAGAGCTACATGTACCTGTGGCGACAGACCCACAACCCCATCTACAGGGAGTGGGGCTGGGAGGTGGTGCTG___GCCTTGGAGAAATACTGTCGGACAGAAGCCGGTTTCTCTGGGATCCAAGACGTGTACAGTAGCACCCCCAACCACGACAACAAGCAGCAGAGCTTCTTTCTAGCGGAGACACTAAA___GTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACTCCCGGTGAACCACTCAGACAGCTCCGGCAGAGCCTGGGGCAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGCCTTGCCTTTTCAGGATTTGAGACTGTTCTCAAAGGGATTGGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAGCAACTTCTTTTCCTCTGTGAGGAGACAAGACTTGGAGACTCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTCTACAGAGAATTTCTATGAAGCCCACTCACTTGCCATTCCAGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCTTCCTTTTGGTTTCTTGGTTTTTGTTTTTGCTTGATTTTGTCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAATCATGCACTTTCTAAAATGGTGTCATCCTGAAAAACAAAACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAAATGCTTTTTGCCCAACACTGACCCTATGTTCAACTTTGTGTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTACAAATTACTAGTGCTATTTTCATTATTATTGTAATGGAAAAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGGCTCATTGCACATCAGTGACTCCTAGAAAAACCATTGCAATGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTTAGTAAACGATTCCAACTTCTATTACCTCCCCTGAAATCGGTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTTATTTATACTCAGGTTTAGATTGGGAAGAGGCCCAGGGAGGAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTCTCGCCCCTGCCGTCTCCTGGCCACCCCAGTTGAGTGTCCGTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGACACTGGGCTAGAGGCCAGGGACACCGCTGAGAGTGAGACAGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAGGGAAACTGACAAGTAAGTGAAGTGACTGCAGGTCATAGGAAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTCAGGGAGGGCCTCTCTGGGCAGGTGACCTTCAAGCCAAGACCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAACTTCCCATAACCCAGCCCCCTTTCCCACCCTCCCTGATGCCCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAGCTCAGGTCCTAACACTGAAGTGACAGCTCTTCCTCCCCTGACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCGTCACCACACCCGGCTAATTTTTTGTATTTTTAGTAAAGACGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCGGGGATTACAGGCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAACACAGCGGAAATCACGGGAGAATGTTGAGCCCTTCCCTGGGCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGGCCAGGTGACCCGGCTTTAAATCCCTGCTGTGTGAACTTAGGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAAACCTCAACCCCACAAGGTTGCTGTGAGAAGAAGTGGGAAGCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTCAAGACATTCCCAGAATCTTCTTAAGCAGAGCTGCTGGGGAGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTGACTCCCATGACCCACCTGTGCTCAAAAAAAAAAAAAAAAAAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAAATAGAAGCAGAAAGAAGACTCATTGGCCATCCCACTCTCTGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATAGAATATAGATTTTGCCACCGTGGTATCCTACTATGCACACTGTTTTCTTATAATCTGCTTTTGCACTTAACTGTACATTGTGAACCTCTTTCCATGTCAACAAATACATGTTTATCTCATCGCTGTA)$ . 11CO054 ENSG00000204610.13 ENSG00000196284.17 +/+ -/- chr6:30171008 chr6:45106006 CDS/splice-site CDS/splice-site inversion 2 0 0 111 23 medium out-of-frame . B-box_zinc_finger(100%),Prokaryotic_RING_finger_family_4(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)|Transcription_initiation_factor_IID__18kD_subunit(100%) . . ENSG00000204610.13 ENSG00000196284.17 ENST00000619857.4 ENST00000371459.6 downstream downstream . ^(ACTTTGATGCTGTGGGCACGCCTCAGAGCCAGAAGTTTATGGCTCCCACCTGCTCAATCTGACAGGAAGCTTCTGCTCCCCAGTTCTCCCCAGCCACTGTGGTCTACAGATTCCAGGAAACCCATCCCCCTGTGACCTCATGGTGTGCTCTGTTCTCCACCCTAGGGACCAGAAGGAGCCAGGAGTAAAGAACTGGCTTACTTGGCCGCCACTGGGAAATTCTGGGTAATTCGAGACGCCCTGGAATTTGGACCCACTCCGCTGATAGGTGGTGGCCAGGGTTCTAGGGAACACAAGAGGCGGAGCCAGGTGGCTTCCCTGTGCTGGCATTCTTGCCTCTCTCTCTCTTTCTCTCTCTCTGTCTCTTAGCCTTGCAGCCGTTTCCCTCTGCGATTCATGTAAGTGTGACTCGATTTCAGGGAAAGGGAACTCGCGTGGGCTGAGGAGACCGGAGTGGACGGGCTGGGGAAGGCACCGTGATGCCCGCAACCCCGTCCCTGAAGGTGGTCCATGAGCTGCCTGCCTGTACCCTCTGTGCGGGGCCGCTGGAGGATGCGGTGACCATTCCCTGTGGACACACCTTCTGCCGGCTCTGCCTCCCCGCGCTCTCCCAGATGGGGGCCCAATCCTCGGGCAAGATCCTGCTCTGCCCGCTCTGCCAAGAGGAGGAGCAGGCAGAGACTCCCATGGCCCCTGTGCCCCTGGGCCCGCTGGGAGAAACTTACTGCGAGGAGCACGGCGAGAAGATCTACTTCTTCTGCGAGAACGATGCCGAGTTCCTCTGTGTGTTCTGCAGGGAGGGTCCCACGCACCAGGCGCACACCGTGGGGTTCCTGGACGAGGCCATTCAGCCCTACCGG___GATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTG___ACTCAGATCGAAAGCAAGAAGCATCAGGTGGAAACAGCTTTTGAGAGGCTGCAGCAGGAGCTGGAGCAGCAGCGATGTCTCCTGCTGGCCAGGCTGAGGGAGCTGGAGCAGCAGATTTGGAAGGAGAGGGATGAATATATCACAAAGGTCTCTGAGGAAGTCACCCGGCTTGGAGCCCAGGTCAAGGAGCTGGAGGAGAAGTGTCAGCAGCCAGCAAGTGAGCTTCTACAA___GATGTCAGA___GGAACAATTGTCAC___GTGTGAGATGAAGACTTTTGTGAGTCCTGA)GGCCATTTCTCCTGACCTTGTCAAGAAGATCCGTGATTTCCACAGGAAAATACTCACCCTCCCAGAGATGATGAGGATGTTCTCAG___AAAACTTGGCGCATCATCTGGAAATAGATTCAG|GTATTCTTTAGGTGATGCTAGAAGGCCTCTTCATGAAACAGCAG(TTTTGGTAGAAGATGTGGTACACACTCAGTTAATTAATCTG___TTACAGCAAGCTGCTGAAGTTTCTCAGCTGCGGGGAGCAAGGGTAATCACTCCTGAAGATCTTCTGTTTTTGATGCGCAAAGATAAG___AAAAAACTTAGAAGACTGCTAAAATACATGTTTATCCGAGACTACAAATCAAAGATTGTCAAAGGCATCGATGAGGATGATCTTCTCGAAG___ACAAATTGAGTGGCAGCAATAATGCGAACAAAAGACAAAAGATTGCTCAGGACTTCCTCAACTCTATTGACCAGACAGGAGAACTTTTAGCAATGTTTGAAGATGACGAAATTGATGAAGTTAAACAAGAAAGAATGGAG___AGAGCAGAAAGACAAACTCGAATTATGGATTCAGCTCAATATGCAGAATTCTGTGAAAGTCGACAATTAAGTTTCT___CCAAAAAAGCTTCCAAATTTCGAGACTGGTTGGACTGCAGCAGTATGGAGATAAAACCCAATGTTGTCGCAATGGAAATCTTAGCATATTTAGCGTATGAAACTGTGGCACAG___TTAGTGGATCTGGCTCTTCTTGTGAGGCAAGACATGGTAACCAAGGCAGGGGACCCCTTCAGCCATGCCATTTCTGCAACCTTCATTCAGTATCACAACTCTGCTGAG___AGCACTGCAGCCTGTGGTGTTGAGGCTCACAGCGATGCCATCCAGCCCTGCCACATCAGAGAGGCCATTCGACGCTACAGCCACAGGATTGGCCCACTTTCCCCATTCACA___AATGCCTACCGCAGGAATGGGATGGCTTTTCTAGCCTGCTGATGTGACAACTGTGATGTGCCTGCAACAACAGGAAAGGCAATGTTATATTAAGGTGATTTCTTGTGAACAAAATAAAATACAAATTTACCTTTCTTTTATCTGAGGGAGTGGGCTGGTCTGTTGTGACTTTCAACTTGCTGACTCCTCCTCTTTTCCAGCCCCTCAACCATCGGTCTTGTTTACTAGATGGGCTGTTCAGCTAATTAATGGCAGGATGTTTAGGATAGTCTGTAGGTGGACAAGAATGCAGATCACACAGTTTTGAAATTTTAATTTGAGTAGATTTACTGCCCTCAGCTCACATACCTTAAAAGCAGTGGTTGCCCCCGTCCAGCGTTTTGTCTGCATTTTATTTGATATATTTTATAATCCAGGTTTGGAACAAGGAAACAAAATTAAAAGGACAGTGAGTTTTCGCCTTCCCTTACACCACCAACTTTACTTTCCAACATTTGTTGACATGTGTTTTAGTGACAGCTATCCATTTTATAAACTTACAGTAATCAAAGATCTAACAGACCTGATAAATCACCTGTTCCCACCTCCTTTCCCCTTCACTCCACTTATAGTATGTGTCATTTTCAATGCCTGCTTCCCAACTTCCTGCCATCTGCCTTTCATGTGTGTTTTTCCTCACACAGAACCTCTTCCTCCATCTTCATTTCCCTCCTTTTCCTGTTCCTCCAATCCCCAGATCCACCACTCCTGCACATGCCATACACATTTAGAAGCCAAGTATTCAGAATCAGTAGAAGGGGAGCAGAGTGATTTCTTGCTTCCTCCCTTCAAAGCACTACCACACCTAGACTGGAAATGTGGGCTGGGTAATTTCTTGCTGTTAGCAGCCGAGCTACCCTTCTGGCATCTATACTTTCTCCAGTAAATGAGGAACCGTAACTCTTTGGAACAAACCAAAATATAGCAGATGTAATTGTACAGTTCCTGATTAAACTTCAGTTGCAAAAAAGAAAGTTATTTCTTTAATTCTGTGGGAGTTTTGTATAATTTTACTTTTATGGTTTTTACACATACTTGAAACACTCTTTCTAAAGAATTAATAAAAACAGAAATGAGAAACATGAAAGATCTTTTTCTTGATACTGCTCCTTTTTCTTGATACTGCTCAAGAGAGCAAGCCTCTCTTGATACTGCTTCCTAGATTTAAGGGTAAAGAAAGTAGAAATAGTTCTCCCTTCACCCAAATTTGGAAGTATAAAACTTTCTGAACATGCCATTTAGAGGTTATGTCATTAGCTTTCCTGCCTTCTTATATTGTAATAGTTGCGATTCAAAAACACTGTTTCAATTTTAAATTCAAGACTTTTTATTTGAAAACCATCAGACTCAAAGAATTATGAGGCTCAGTTAATATTATTATGCCACATTATTTACATTTGTTAACTGTCATTTACCTGCTCTATGTTAATCTTTTTAGAAAAAATTTGCATTTCAGAAACAAAAAGCACGGATAGATATATAATATCAAAATATTCCCAAAGGATTTTGATGTTCCATCTATGCTTGTTAAAATGTATGATTATGATTAAACTTTTTATCATTCTTATTTTCCTTGGCATCCATAATCATGGAAAATTACAAGCTTGCAGTAAACATCCTAACTTAACTTAACTTTTAAACGATAGCATTTATTGTATTTGGTTTTGATCTGCCAGGCTTATAGATGGTATAAAATTTTCAGGGGATAATTTTTCACATCAAAATTCCTTCTCTCCCACATTATACATTTTAAAGTATGCACAAGGCAGAAAATATAGGGTTTGGGTTTTTTTCCTTCGTTTTATTCCACCTGATCTCCTTATAGTCCCAGAGAAGGAAGACTCAATGTACATTTCTCTCAGAAATATGACAGGTCTGTGTTTTTGTTGGTCTGGCATATGTTTGTCTATCTTGAACAGTCTGACAGGTAATTATTTATAAAATCTGGTTTTGCCCAGTAAGTTCATATAAAACCTTTCATTTTTCATCATAAGCCAGTAAGCTGAATTTAGAATAAAGCAAGGTCATTTATGTCTGTCCTGAACCAGCCTACATGTCCCCATAATTGCTCAATATTTTTAATTCCCTTTTCTATTTTTTATACTTAGGTTCTTTCTCTGACTCTTTGCACAATACTAAATTTGAAGTGAAATAAAACTTCCTTCAGCAGTGACTATAGAAACAAAAGAAAATTTACAGAAGGAATGTTTAAGAAAACTTCAGTAAATTATTTTCTCAATAATCATAATGTTAGAGCAGAAGATAGTCTTAGAGATCATTAAGAACAGCTGCTCATCTTGCAAATGAAAAAACCATGGCCTAGAGAGGGAAAGTGAGTTTCCTAAGATCACTCAATAATGTAGTGACAGACCAGAGATGAGAATCGATGGTCCCTAATTTTCAGTCGGTATTATACAGTATTTTCTACCATACTGGGTTAGCATAAGAATATTACTAAGACATGTTGGGGTTTTATGGCATATTTATCCTAGACAACGATGTAAATTTATTTAAAAACTGTACTAATTATGGATACATCCTAAAGCATACGTGTTATATAGTAAAATCTTCAGTGTGACTGTGGTATTAAGTAAACAGTCTGTTATCTTACACATCAGGCTTAACTCTAAGTCAAATGGAAATATACAAAGCTAGTTTCTATTTTTTGTCCCTTGTATTTTAGAGACTGAATTTGAAAATAAATAAGCCAATAAATAAATAGCGTCTCTTGATACTGCTTCCTAGATTTAAGGGTAAAGAAAGTAGAAATATTTCTCCCTTCACCTAAATTTGGAAGTATAACTTTCTGAACGTGCCATTTAGAGGGTTATGCCATTAGCTTTCCTGCCTTCTTAGATTGTAATCGTTGTGATTCAAAAATACTGTTTCAATTTTAAAACCAAGACTTTTTATTTGAAAACCATCAGAAGCACAAATATTTTTTAAATGGTGTATATAATTCCTGTATCTGGGGAGAACCCTTCATTTATTGCTGTTCTTTGTTTTTATAAAATAATAAACAAGCCATGTCTGATGCTTTTACCATGTAGAAGACAAATAAACATAACTGGTGATTCTTGGTCTGAAAGAAAA)$ MAPVPLGPLGETYCEEHGEKIYFFCENDAEFLCVFCREGPTHQAHTVGFLDEAIQPYRDRLRSRLEALSTERDEIEDVKCQEDQKLQVLLTQIESKKHQVETAFERLQQELEQQRCLLLARLRELEQQIWKERDEYITKVSEEVTRLGAQVKELEEKCQQPASELLQDVRGTIVTCEMKTFVSPEAISPDLVKKIRDFHRKILTLPEMMRMFSENLAHHLEIDS|gil* 11CO054 ENSG00000234515.1(15079),ENSG00000235301.1(1489) ENSG00000196821.10 ./+ -/- chr6:32894927 chr6:34606904 intergenic CDS/splice-site inversion 2 0 0 25 128 medium . . . . . . ENSG00000196821.10 . ENST00000374026.7 downstream downstream . CCCAAGGAGGCAATCTGTCAGGCGCCGCCCGGGCGGCAGTATGCCTGAGGGGGTCCTCCGTGTTCGCGCCTCCCGCCGCCTGCACTGAAAGGTCTGTACCTGAGCCTGGATACTTGAACAGAGGCAGACACTGCGGCTCAAAACCCCAAGG|ATGTCATCTGGGTGATTCTCAGTGTGGAGGTGGGTGGACTTTTAGGAGTAACGCAGCAGCTGTCATCTTTTGAAACGGAG(TTCAACACACAGCCGCATCGTAAGGTAGAAGGAAACTTCAACCCTTTTGCCTCTCCCCAAAAGAACCGACAATCAGATGAAAACAACTTAAAAGACCCTGGGGGCTCCGAGTTCGACTCGATCAGCAAAAACACATGGGCTCCTGCTCCTGACACATGGGCTCCTGCTCCTGACCAAACTGAGCAAGACCAGAATAGACTGTCACAGAACTCTGTAAATCTGTCTCCCAGCAGTCACGCAAACAACTTATCAGTAGTGACTTACAGTAAG___GGGCTCCATGGGCCTTACCCCTTCGGCCAGTCTTAAACGGGTGTCAGCAAGAAGAAAAATTAACAAAAGACAGAAGGCCTGACTTTGGGGGGTTAGGGCAAGGGGTTCCTCTGGATTGCAGACCACATCGCACAGACCCCTGGCTCTGACCCCCTCTCATCCCGGAAGAAGAGGAAGAAGCAGAACAGACTAGTTTTGAGTAAACTCAGTATGCATGTGTGAATGCTGAATCACAGGAATGGTGTTGAGGCTACCAAGAAGAAATCCATGCAGCCACTTTGGGTTTTGTTATAGGCATCAGTCTAACAAGTCATTAGGTCACTCGGGAAGGGGGAAAAAGTTTAAAATGGGGGAAAAAAAGCCATCTTTTTAAACAAAAATTATTTTGCCTACAGAAAGGTTGTAGTTTTGAGCACATGTTAATTTTTTTCCCTCTTTCCCCACTTTTATTTTTTTAAATAAGGGATAACATATTCTTTATAGAATAGTGCTTGTTCTGGAAGAGATTCAGGTGAAAAGTTGGCGTGGCATGTTTGAGGACTCTGCGGATCAGTGCTACAGGAGTACATCTGCCCTGCCACATGACTCCAGAAGTCTCTGACCCCATTTGTTTTTAATGGCATCAGCCAATGAGTTATCACCCTTTTCCTCCTCTTTTCTCTTTAATCTTCTGTTGATTTACACCTTTGACATTTGTATTCGTCAACCCTGTGGCTTGTTAGCATCAGAACCTCTCTGAAGACCAAACTTCCCTGTGTGGCCAGCAGAGGAAGCCTTGAGGATAGATCTCGGGTGACGTGGGATTTTCTAAGCCTGAGAGGTGTCCTTCTGCACACCCTTGTAACAATTAAAATTGCTTTTCTTCCATGTTTCTCTTGGCAGAGAGAAATGCCATCATGCTTACTGCTCTTTTGGATTCTTCATGCAGTGGCTTCCCATTTGCTCTGGGAACAGTGCCTCTGTGCTGGTTATATGTATGCACCACATGTGCACACACGGGTGTTGGTGCAACTCACCAGCAGGTGTGCAGTAGGCAAGCTTGAAGGTGGCCCATGCTTCTCTGTTGTCACACAACACCTTTCCCTGTTTCTCTTCAGTTGTCCTCTGATATTTTCACAGCCTGTTAGTGGCGGCTGATCTGTAGAGGTATGAAAATACAGCCCCAAAGGGGGAATTTGTCATGGGGAAGGGCCAGCCACTGACTACTTGATCTTGGAGACCACATTTAGATGGAAATGAGAGGACCTCCACAGCCCCGCCTCCCTGCCAGGATGCTAGATTATTGGCTGGGAGGTGGGCAAGTGGCAGCCCAGCTGAAGCAAGAGGCTGATTGACTGGCTGCTCACTCAGGCAGGTGGCCTGCCCTGGCATCCTGTAGATTCTGAGCAGGTTGAGATGTGGATATCTCCATGGGAAGCTTGAACCAGGCTAGAACAGCTGTCTGCCAAAGATACAAGAATATGCAAAGTCCCTCTTACCCCCCTCCTTCCCTCAAGTCTTAGTTGGTTTGAGAGCCAGGGATATGGATCCAGGGTGCTGTTGCAGGGTCACCTGCCTGTTACCACACCCCCATCCAGCTGGGTGGTGGGTGAGGGTGTGAGACAGGCAGGGAGACCAGGTAATGAGTGGCTGCAAGGAGTCATATAGCCTGGGTGTGGGTGAGGGTCTGCCTGCCTGTTTCTGTCTGGGTGTCTGAGTTCCAAAAAATGTGTGTTGTTTGTTCCTCCTCATCCTCTTCTGAGACTGTTGTTTTTTTAGAGCTTGATTGTGGGAGAAAAGCTTGTGTGAAATTCCCTCTTCACCTCCCCACCCCCCAAAAAATAAAAGGGGGCATAAACTTTATTCCACTGGAGAAGCCCTGGGGGTGGCTGGAGCCAGCCTGCTGAGAAGCGTGGTGCAGCTGGGTCTGGGACTTCACTAGAGCTTACTCTGGAGCACCTATTTTCTGTGCACATGGGAGTGCTCCACTCCCTAGCAGAGCAGAGGGAAGTCTCTGCCAGGTACCCACGCCACAGGCCTCAGGATGGCTTTTTGTCTGAGGGCCTCATTAGGCCCAGACTGCTGCTGCTGGTACCAGTCTCCTGAGACACTGCCTCCCTGGAGCCCATGCATGCCCAGCTGTTCTTACTGCTTAGTAGCCTTGAAGCAGCACATCTCCACTGTCCCTGGCAGGATTGTGGGAGGCTTCACAACCCCTGCTTTCCTGACTTCCTCTTCTGCCCAACACTGGGTGCCCCTTCCCAGTTTCCCAGCAGGGGCTTCATGGGCCACCGTCAGTGGGTCTGGGCCTGCCAGAGTCGTCTTGCTCTTCCTCTTGCTTCTAGGCAACCACACTTGGCAAGTTAAATGTCCCAAGCACCTTGTCTCCCTTCCCAAGAACAAACCATTTCTGTGCACATCCTTGGAGGCGAGATGAGCTCCTTGCAGAGGGCCAGAGTAAGTGCAAGTCATGGAGTGCAGGCAGAGGGGTCCATGGCTTCCCCAGCCCAGGGAGGGTATCAGTATCATTCATTCTCTCTCCCCTCACTGGTATGGGTTCAGAGCAATGCCTAGGGCCCCTCTCTGCTCCCCTGCCTAGTGGGGTGGTAGTGGCTACCTCTCAGCCCCAATAGTCCCTGCTCCTCTTAGAATCTTCACCAAGTGGCAGGCCACCTCTGGGCAGGACCACCTGCGTCTGGCACCCAGGAGGTGAGGCAGACACCATGGTTAGGTGATAGGGTCTGAACCCAGTTGGGGAGACAGAGGGGTTCAGACTTGGGAAGAATCTGTCAGTGTGCATGGAGTGAGGTGTGTGTGTGTGGATGGATGTGCACGTGTGCATGCTTTTTTTCTTTTTGCCGTGAGGACAGTTGAATTTGGGGCATTTTTCTACAAGAAGCAGTCAGCCTTCTCTCCCCCATAAGGACTGGCTGTAACCTTAAGCCCATCAAAGTTACTTCCAGCCTGGAGAGAACCTCACCAAACAGCTGGTGTGGCCTGAGGGTGGCCATGGTGGGAAATGGGCATGAGAATAAATACCTCCCCAAATTCAATCTGAGCCCAGCAGGAGAGGATGGTAGGGTTGCCAGGGCTCAGAAGTGCAAGCTGATTACTCACCCCACCCTGCCTCGCCGCACCTTTCCTTTGTTTCCTTGGGTGAATGCAGGAGCAGCAGTGGCTGCCCTTCCCACCTGGACAGTGGTGTGTGTAGAAAGCCAGCTGGATGTTTGTGGTGGGGCCTCATGGTGCCTAGGAGGAGATAAAGATGAGGAGGTTTTTCCTTATTGTATAAATGAATATTTGTATGATTAAATTAACACACACACCAAAAAAA)$ . 11CO057 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 8 0 19 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 . GAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACT(GCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO057 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 13 7 0 56 27 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11CO057 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 14 0 30 152 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CTTTGACCAGCGGAGCAACCGGGACCTGTGGGTCGGGGTCCTCTGGCGGAGTTAAAAAAAAAAGAGGaGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCaTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCtCCGCCCCTCCTC...CGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC??????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTG(GTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO057 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 9 0 25 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream . CCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGAGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGG(GATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO057 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 9 0 14 22 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream inconsistently_clipped(1) CGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAaATCG(AGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO057 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 5 0 165 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACT)CAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO057 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 16 17 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGG(ATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO057 ENSG00000154122.14 ENSG00000146021.15 -/- -/+ chr5:14871352 chr5:137621261 CDS/splice-site 3'UTR inversion/5'-5' 1 7 0 107 38 high out-of-frame . Progressive_ankylosis_protein_(ANKH)(96%)| . . ENSG00000154122.14 ENSG00000146021.15 ENST00000284268.8 . upstream upstream . ^(AGAGCGCTTATAATGGAGCCGCTGTCAGCAGAACCTTCTGCCGCCGCCGCCGCCGCCGCCGTCCCTCCTCTTTTTTTTCCCGGCAGATCTTTGTTGTGTGGGAGGGCAGCAGGGATGGACTTGAGCTTGCGGATCCCCTGCTAGAGCAGCCGCGCTCGGAGAAGGCGCCGCAGCCGCGAGGAGGAGCCGCCGCCGCCGCGCCCGAGGCCCCGCCGCCCGCGGCCTCTGTCGGCCCGCGCCCCGCTCGCCCCGTCG)CCCCGTCGCCCCTCGCCTCCCCGCAGAGTCCCCTCGCGGCAGCAGATGTGTGTGGGGTCAGCCaACGGCGGGGACTATGGTGAAATTCCCGGCGCTCACGCACTACTGGCCCCTGATCCGGTTCTTGGTGCCCCTGGGCATCACCAACATAGCCATCGACTTCGGGGAGCAG|TGTTACCCGAGGCTTCTCTGAAGAGCTAGTTTTCCCAGCTGAAGAGACATAACACCTCCCAGGCCTGGAATCTATGACATCAAAGACCAATGGCCTAAACCTGAAGACTGGGCAGTTCTCATCTGCTTCCTGTAGGAGAACTCAAGGAAAAACAGTGAGCTGAGAAGCACAGGGAACCCATTTGTCCCTTATTCTAGCACACAGAGGACACGGTGCAGCTTCGAGAATTTTCCAGCTCTTCTGCA MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQ|cyprll* 11CO057 ENSG00000143067.5 ENSG00000171385.9 -/- -/- chr1:119625875 chr1:111831131 CDS/splice-site intron deletion 2 2 0 33 2 high out-of-frame . |Domain_of_unknown_function_(DUF3399)(100%),Ion_transport_protein(100%) . . ENSG00000143067.5 ENSG00000171385.9 ENST00000421812.3 . upstream downstream . ^(AGTGAGGAGTCAGCCGGGCAGCCAGCCAGCGAGCCAGCCAGCCAGCCAGCCAGCCAGCCAGCCAACCAGCCAGCCAGCGGGCCACCCAGCGGCCGCTGCAGCCGCCGCCGCCGCACAAGGGCAGACGCGCTGCGGTGCGGGGCTCGGGCCGGGGCGCTCGGTGCCCTAGCTCCTCGCCGCGCCAGCCGCCTCGCAGGTAGGAGCGTGGCTGTGGCTGGGCTCAACCGCCTCCCGGGGATGGGGCTGATCGGGACCAGACCCGACCGCTGCGGGGATGGGGTGTGTGTTCGAGTGCGGTGGCGGAACGGCTGGGCGAAGTTGTGCCTCGTAAAGTGGACCGTTGTCCGCTCCCCTGGGGCGCAGGGCCCCGGGCTTATGGGGTGCTCTCGCGCCCCCAAAGCCAGGACTGAGCTCCCTCAGGGGTATGTGGCGAGGGGCGGGGAGGAGGAGGCTGAGACTTGAGGGAGGAGACAGCGATGCAAGAGGGAATAGGACCGTCCCGCCGACCACCGAAGGGGGCATCAGAGACCCTCGGAGAAACCAAGCCCAGGGAGGAGCTTGGAAGGCAAGGAGAAG___GGATTCCTGGTCACCTCCCTTGCTCTTTTCTTCCTGGATGAAACAAGAAGATAATCAGGGTGTCTGTGCACACCAGGACTCAGAAGACAAAGGGATGGGTTCTGATTTTGAGGACT)CTGAGGACAGGGAAGGGGACCCAGAAGAAAGAGAAATGGGCTCTAATCCACATGACACAAACAAGAGAGAAGGCCATCCGGAGCCGGAGATGGGCTCCAACCCACAGGACTCAAGGCACAGGGAAGCAGTGCCCGACATCTGCACAG|ATGAAAGGGGGAGTCAGCACAGCCGGTGTCAGAGGAAAGCAAGTGTGGAAAACCTTCCAGGCCAGGAGGGTGCTGCCTGAGGCATCCACCCTAACTTCTCTGAAGTCCTGTTTAGTCACAAAATTCATGCAACCAGTGCTTATTATAAGCAATGTTTTCCACATTGTCTAGTTTAACAAAGCAGTTCTTCAACTTTCTGGTTTCAGAAAAATTACCAAGAATCCCAAT MKQEDNQGVCAHQDSEDKGMGSDFEDSEDREGDPEEREMGSNPHDTNKREGHPEPEMGSNPQDSRHREAVPDICT|dergsqhsrcqrkasvenlpgqegaa* 11CO057 ENSG00000143067.5 ENSG00000171385.9 -/- -/- chr1:119625875 chr1:111787106 CDS/splice-site CDS/splice-site deletion 3 0 0 33 1 medium out-of-frame . |Domain_of_unknown_function_(DUF3399)(100%),Ion_transport_protein(100%) . . ENSG00000143067.5 ENSG00000171385.9 ENST00000421812.3 ENST00000315987.6 upstream downstream . ^(AGTGAGGAGTCAGCCGGGCAGCCAGCCAGCGAGCCAGCCAGCCAGCCAGCCAGCCAGCCAGCCAACCAGCCAGCCAGCGGGCCACCCAGCGGCCGCTGCAGCCGCCGCCGCCGCACAAGGGCAGACGCGCTGCGGTGCGGGGCTCGGGCCGGGGCGCTCGGTGCCCTAGCTCCTCGCCGCGCCAGCCGCCTCGCAGGTAGGAGCGTGGCTGTGGCTGGGCTCAACCGCCTCCCGGGGATGGGGCTGATCGGGACCAGACCCGACCGCTGCGGGGATGGGGTGTGTGTTCGAGTGCGGTGGCGGAACGGCTGGGCGAAGTTGTGCCTCGTAAAGTGGACCGTTGTCCGCTCCCCTGGGGCGCAGGGCCCCGGGCTTATGGGGTGCTCTCGCGCCCCCAAAGCCAGGACTGAGCTCCCTCAGGGGTATGTGGCGAGGGGCGGGGAGGAGGAGGCTGAGACTTGAGGGAGGAGACAGCGATGCAAGAGGGAATAGGACCGTCCCGCCGACCACCGAAGGGGGCATCAGAGACCCTCGGAGAAACCAAGCCCAGGGAGGAGCTTGGAAGGCAAGGAGAAG___GGATTCCTGGTCACCTCCCTTGCTCTTTTCTTCCTGGATG)AAACAAGAAGATAATCAGGGTGTCTGTGCACACCAGGACTCAGAAGACAAAGGGATGGGTTCTGATTTTGAGGACTCTGAGGACAGGGAAGGGGACCCAGAAGAAAGAGAAATGGGCTCTAATCCACATGACACAAACAAGAGAGAAGGCCATCCGGAGCCGGAGATGGGCTCCAACCCACAGGACTCAAGGCACAGGGAAGCAGTGCCCGACATCTGCACAG|ATACGGAGACATGGTGCCTAAGACGATTGCAGGGAAGATCTTCGG(CTCCATCTGCTCCTTGAGTGGCGTCCTGGTCATTGCCCTGCCAGTCCCTGTGATTGTTTCCAACTTTAGCCGGATTTACCACCAGAATCAGAGAGCTGATAAACGCAGGGCACAAAAG___AAGGCCCGCCTTGCCAGGATCCGTGTGGCCAAAACAGGCAGTTCGAATGCATACCTGCACAGCAAGCGCAACGGGCTCCTCAACGAGGCGCTGGAGCTGACG___GGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACT___GGGTTGTCCTATCTTGTGGATGATCCCCTGTTATCTGTACGAACCTCCACCATCAAG___AACCACGAGTTTATTGATGAGCAGATGTTTGAGCAGAACTGCATGGAGAGTTCAATGCAGAACTACCCATCCACAAGAAGTCCCTCACTGTCCAGCCACCCAGGCCTCACTACCACCTGCTGCTCCCGTCGTAGTAAGAAGACCACACACCTGCCCAATTCTAACCTGCCAGCTACTCGCCTGCGCAGCATGCAAGAGCTCAGCACGATCCACATCCAGGGCAGTGAGCAGCCCTCCCTCACAACCAG___TCGCTCCAGCCTTAATTTGAAAGCAGACGACGGACTGAGACCAAACTGCAAAACATCCCAGATCACCACAGCCATCATCAGCATCCCCACTCCCCCAGCGCTAACCCCAGAGGGGGAAAGTCGGCCACCCCCTGCCAGCCCAGGCCCCAACACGAACATTCCTTCCATAGCCAGCAATGTTGTCAAGGTCTCCGCCTTGTAAAACCACTGGACAGAGGGCCAGAGTGGGTAGTGGGGAATGAAGGGGACTGGCATGTTGGTGGGTGGTCACTGAGACCACTCCCTCCCCCCTTTCCCCACTATTTCTGCCTGCCCCATTGTACCCCTAGCACTGAGACTTGTGCCTGGAAGGAAAAAGAGGTAGCAAAGGGGCACCTGAGGTTCACGCTGCTAGCGTGGACATAGCCCTGTGATACTGCATCTCACTGGGGCCAGAGGAAGGGAGGGAGGGTGGGGGGGTCGGGGATAGG)$ MKQEDNQGVCAHQDSEDKGMGSDFEDSEDREGDPEEREMGSNPHDTNKREGHPEPEMGSNPQDSRHREAVPDICT|dtetwclrrlqgrssapsap* 11CO057 ENSG00000116754.13 ENSG00000225079.2(106928),ENSG00000272715.1(26598) +/+ ./+ chr1:70205780 chr1:116882551 5'UTR/splice-site intergenic deletion 0 12 0 12 37 medium . . . . . ENSG00000116754.13 . ENST00000370951.5 . downstream upstream duplicates(1) ^(GCAGTCCAGATGTCGTCAGCAC)CAGCGCCTGGGCTGGAGGACAGAGAAGCCTTTTCCGTTGCCGGTGCCGGCCTAGCGTCCTGGAATTACTTCAATCAA|TGTTGCAGGTCTACGGATCTCGGTGCAATTTGTTCAGTATATGGAGCAATGCAATGAGTATTCCAACCCTGAACAGCTGGGAAAGGAGAAAGATGTGAAAAATGAGGAGGGATCCAG___GTGGAAAGAAGATGAAGATCCAATTTTTATCCAATGGCACAGAAGGCTCTTCATGTCCATGCTCTGTTAATGTCACCTTCCCCAAGCCGTG . 11CO057 ENSG00000137831.15 ENSG00000152127.9 -/+ +/+ chr15:70729752 chr2:134362277 intron CDS/splice-site translocation/3'-3' 0 3 0 0 172 medium . . |Glycosyltransferase_family_18(99%) . . ENSG00000137831.15 ENSG00000152127.9 . ENST00000409645.5 downstream upstream . CTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGCT|CATACCCCAGACAACAGCTTTCTGGGGTTTGTGGTTGAGCAGCACCTGAACTCCAGTGATATCCACCACATTAATGAAATCAAAAGGCAGAACCAG(TCCCTTGTGTATGGCAAAGTGGATAGCTTCTGGAAG___AATAAGAAGATCTACTTGGACATTATTCACACATACATGGAAGTGCATGCAACTGTTTATGGCTCCAGCACAAAGAATATTCCCAGTTACGTGAAAAACCATGGTATCCTCAGTGGACGGGACCTGCAGTTCCTTCTTCGAGAAACCAAG___TTGTTTGTTGGACTTGGGTTCCCTTACGAGGGCCCAGCTCCCCTGGAAGCTATCGCAAATGGATGTGCTTTTCTGAATCCCAAGTTCAACCCACCCAAAAGCAGCAAAAACACAGACTTTTTCATTGGCAAGCCAACTCTGAGAGAG___CTGACATCCCAGCATCCTTACGCTGAAGTTTTCATCGGGCGGCCACATGTGTGGACTGTTGACCTCAACAATCAGGAGGAAGTAGAGGATGCAGTGAAAGCAATTTTAAATCAGAAG___ATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAG___GACTTCTGCCATGGGCAAGTGATGTGGCCACCCCTCAGCGCCCTACAGGTCAAGCTTGCTGAGCCCGGGCAGTCCTGCAAGCAGGTGTGCCAGGAGAGCCAGCTCATCTGCGAGCCTTCTTTCTTCCAGCACCTCAACAAGGACAAGGACATGCTGAA___GTACAAGGTGACCTGCCAAAGCTCAGAGCTGGCCAAGGACATCCTGGTGCCCTCCTTTGACCCTAAGAATAAGCACTGTGTGTTTCAAGGTGACCTCCTGCTCTTCAGCTGTGCAGGCGCCCACCCCAGGCACCAGAGGGTCTGCCCCTGCCGGGACTTCATCAAGGGCCAGGTGGCTCTCTGCAAAGACTGCCTATAGCAGCTACCTGCTCAGCCCTGCACCATGCTGCTGGGGAAGACAGTGGCCCCAGCCCCGTCAGGCAGGGCCAGGGACAGAAGTCATGCAGGGACTCTGGCAAGAGCCTGAACTTTTTCGTAGAAGGTTCTGAATTGGCATTGCCCTTGCTGCACTCCGAGCAACCCAGTGGAGTCTTCACCAAAACAAAACAAGAGCGTATGTCAGGCCAGGAGCCTGGCTTGTCCCTGGCACAACATCATTTCTGTTTCTCAAGGAGCAACTGTGGGAAGACTGTCACTGCAGCTGCTCCAGGGCAAAAGAAAGTCTCAAGAGTCCTTTAAAACAAAACAGGAGGAATTGAGCTGATGGGAAAGAACTCTGAATGGGAATATTCCTAAACCCATTAACTTATTTATTCGGGTGGGAGGGAGGGGACCGCGGGAGGGAGAGGAGGGATTGATCACAGGCTTCTTTTATTTCCACTGTTAATCATCCACCTTCACTATACTGTTGTTCTGTCTGCTTTGGGCAGGGTGCAGGAGAGAGACCGTGTGCCGTGGGGCTGGTGGCCTGCTCAGGGACAGCCATGGGGACCTGGCAGCTCAAAACAGATGGCAGCAGAACAAAAGAAACTTTTGCTTTGGAAGCACAGCCAAACTCCCCAGGGCATCGTCATAGATGGCACCTAGAGCATGGGCTGCCTCAGTCAGGGGGACGTGCCTGTGTTGTCCAGAGAGCCCAGCCAGGGACGAAAAAGGAGATGAGGCCCCTTTCCTCCATGTCCCCATGCCCAGACACATACCTTGGCCGTAATTTCTTTTAGAATCCCTTTGGGAAGGAAATACAGGATTGAGGGATTTTGGAGTTTCTGGTAAACTCACCCTCCCTCCAGCCCCGCTATGAGGAGGAAAGTAGAGATGAAAGACTCACGCTGTTCATGGACTTGGAGAGGATTATCTTTGAGCCAAGATTTGGACAGGAGTGAAGTCGGTCCTTAAGAATTTGTGGCGCGACCGGAGCTGGGCTCCTGACAGGTGGGCTTGTGTTGTGTCCCCTCTGATGGCACCAAAGTCCAGGGAAGGGGGCTCTTGATGTCTGCTGGGGGAGTGGGGGCAGCTCAGGATGAATGCAGTGCCCTGTCCTGGCTACTCACCTGAGGGTGTAGCTCGCAAAGGTGGGAATCTGGTGCTGGCTTTTCCTTCAGGCAGGATCACTCTGACTTGTTGAGTAATCAGTCATCAGGTTGGCCTGGTCAGACACACTGGACCCCACCTTCCAAACCCTGGACCCCCCCATGCTCTGCCTTTGTATAAGTTCCCACCCCACTGAATCATTGCTGCCATGCTCTGTACAAGTTTGTAAGTTTCTGAAAAGCCCCTGACATCTCCATGCTGATGCAAGTGAGACCCCTTCTGCCTAATGTGAGCGGTTGGCGTCCTCCACTTGGCCTCTGCTGGGCGCCTCAGTCGCTCAATGATGTGCTCTGTGCCGGGGCTTCCAAGCACCCTTCCTGCTAACAGAGGGCGGCCCAGTGGAGCCTCCGCTGGGCAGAACTGATGGGCAAGGCGTAATGGCTGGTAGCTTTCAGAATGTGAGGGAAAGGAAGAATTCCGCTTCATGGGGACTAGAGTTAGTGTGGGGCCTTTAAGTCTGGGAAGTTACATTCTGCTTCTTTCTCAATTGCTACACAAATGTGCAGCCAGCCTTTTTTCTTAGGCCCACTGAGATCCCTGCTCAGTGCGTCTCAATTGTATCTCCAGTCTAAGAGGAGGGTGGGGGGCACCCGGGGCCTCCTCCACTCCTTAGGTGGCCCCCAAGCACATCTGCCAGGTAGAGTACCATGGGGAGGCCTCTGCCCTGAGCATCATCACAGGGGCGCCTCCAGACCTGGCTGAGAATAGCCTCTGCTTGGGCCTAGGAAGAAGGGCAGAAGTCCAAAGGAAACCTTGGTGAGTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAGCCTGTGCATTTCTTTTAAGCAAGGGCAGTTTCCTGCAGTAGGAGGGCAGATGACTGGCATCCTTGCTGTAAGGAAGAGCTTTTTCCTTGTGAATGGGCCTCTTGGCTGTACCCTAGGGTGTGGGAATTTGCTAGAGTTCCCTGACCTGCAATCCCTGGGCCAGTGCCGCCCTCTCCTGGGCTCTTCCAGGAGCATTGAACACTGAGGATGTCAATGCAAGTATCTGACCAACAGGGGGAGCCTGCAGGCCGAGCAAAGTTTAACCCACTTAGCCACTGCTACTTAAGCAAGGAAGCTGAAAGGTAACCTTAGCCCTGCCTTGTGTTCCAAAAGCTGCAAGGATCATTTGCTGGCTGTCCCTAAGTTCAAGGCCTCCCTACCTTCCCCTTCTTTTCCAAGTCACAACCCGCCCTGCCCGGGCCAGACAGCCCAGAAGAACACTTTTCTGCCATTTAAAAATCCCTCTTTCATCCCCCCCAGTCCAGTATTGAGTGGAAGTGCGCCGGAGTTCCACTGACAGGGCAGCTGCTCTTGGAGCAAACAAGCCCACACTCCAGTTGTTTAGGGCATTATCTGAAGAGTCAGTGACCCCTGAATGTGTACTGGCTCCCAGGCCTCCTCAGACTTGGCCCAGGTCTAGTCAGTGATCCTGGAGAGGAAACTGGGGAGGGGGCTTCCAACTGCCCTGCATGGAAGAGGAGAGGAAGGTGCCCCTGTGTGGGCTGGAAGCCTGCGGAGGTTTTGCCATTGCTGATCTTGATAGAATCCTAAACCGATTTATAGCTGATAACAGTTCCATGGGGAGAGAAATCCTAAGTTATGATTAATGTTTTTCCCCGCTATAATATCTTGCCTGTTTTTTTGGATTATTTTCCCCATTGTGATCCTAAGCTCTTAAAAAACTTGAGGGAAAACATTCATCTAATTTACTAAAAGAGAAAGCTTTCCATTGAAAGGTAGATACTTTGAGGAGTAAAAAGACTTCTTTGAATGCTGGTAAACACCGCATTTATTTTGTGTATGCAGTTTGATTTGCACATGTATAAATGGAGATGCTTTTCATTTTTGTTTGGACTGGGTTTGTGTCACTGCTCATTACAGTTTGCTTTTTTGTGTGTTTGCTGTGCGTTTGGAGATATTAGTCAGTTTCTTTAGTGATATTTGTTTCCTTGATGTGCCTTTTCGTTTTTCTTTGGGGTTTTTGGAATCCGGATGCTGTTGAAGGGCAATAGCAGACTCCTCCAGCTAAGAGACAGGACATGTTCTTGAGCCACTGTAGCTGTTGAAGCTGGACACCAGACGCTCCCTATAACCCCCCCGCCAGGCCATAGCGTGTATGCATGTGCACTTCCACCCACAGAGGAGGGTGTGAAGCCTTGAGAACCTCAAGAAAGGGCTGGATTCTGCCATACCTTTGGGTCTACCTTGGGACTGCTGGTTGCCAACGTGTCAACCAGCCTGTGTTCCCTGCCACCCACGCACTTGCTGAGGTGTGGCTGAGGCAGAATCATGTGAATGGGTGCATCCAAGGAGTTCAGGGCCCTGCTTGGAGAAGAAATACTTTAGCATCATGAAAGGGAAAGAACGTGCACCCCTTTTTTGTTTCTTTAGTGAATGCAAGATTTAATAAAAGTGAATAATGAGCTTCCCCTTTGGGAGTGGAGCCCAGTGCAGCTCACTGACAGGGTTGACATCAGTATGATGTGTTGGACTGAAACTGTATGTCTGTAGGTAGGTGTGTGCCTTTTAGGGCAGACCACGGTGGCCACCCCATTTCTCCAAGGTGGTTTACCTAGCTTGTGTATATTAGACATTGCCACCCTCACCTCTGGCCAAAAATTCTTGATTTAAAAAGAAAAGTCTATTTTGTTAACGACAGGCTCTGTTGTATGTGTTACTATCCCAAGCCTGGATTATTTTATTTATTTAAAAGTATTTTAATTTCCATATTGGCTTTATTCTAATCCCATCCATCCCTGTGGAGCTGCAGAGCATCTTCATGTGAGTAGACGGATGGACATAAATAGATTCATGCTCATTTAGGAAGCTGGGAGTTTCGTGAAGCTGAGGGTGAGTTCCTGTGATTCTTGTTCGCTTCAACAAAAAGTGGGAGACCAAGTTTTTATAGCAAAAGACCAAATTAGCTGTAGAGTCTTGAATGCAGAAAAAAATTACCCTAGCTTTCTTAGCACTTAGGGTTTTGTGAGGATTCAGTGTTTAGCACAGTGCTTGGCACATAGTAAGCCCTAGTAAATGTTAAATATTGTTATTAGTGTTTCGTAAAACTTGAGAAATAGAGCTGAGCTCATTCCCTTCCTGTTGATTCAAAAATAATACCTACATGAAAACATGATTCCAAGTTGATTGAATGTTGTAGGAATTACTGGTTTAGAGTAGCCCAGTTCTCGGCCTACCCTGCTGGTTGGGATCTTACTGTATTCTTGAATGCACTGGTTTGAAAATATGCCAGACTTCAGCCCCCAAGGAAACAAGGCTGCAAGAATTTATGAACTCCAGCTGGAAAAGGTAAAGGTGACCTTTGGCTAGCCACATACTGGACCTTACCCCACTGACGTCTTTCAGAACATTCCAAGGGTTTTCCTCAAGGAACATTTTTGAGCTAGAAATTAAAATGGGTTCTCTGGCAGACTGCACCCCTTGAGTCAAAGTTAACAGTATTCCTTTGAATGCAATAATAGAGGCTTTTCTGCGTTAAGGGAGAAGGAATGACCAATTGAACTTACACATTCCCCAGGCAGGTCCCTTTGCCGGCCCCTACAGGCTGGGGTGGCCCCTCCTGTCCTCAGGGATCAGACTCCCAGACTGGTTAGTTCTGCATGTTTCCATCAAATTAAAGGTTATTCCCTGGCCGCCTCCTGGAGAAAACCAACCCCACCCTGCCAGCTGGGGGCAATGGGGCAGGGATTTTGGCCTCTCAGAACAGCTCCTAGAGGCTGCTCATGACTGAATGTTTTCCCAAATCACCTAAATATCGGTTTGCTTTTTGTTTTGGGGGAGAGGATTTAGCCTCTTACTTCCCTGATGGATTCAAAGTTTTATCTATCTCCTTATCTCCTGCCCTGTCTTGGCACAACTCTGGATAGATTGCAGGTGTGGAATTTGCTGGAGTTTGGTGACTTCGTCAAATTCCTTTGGATTCTGTTCCGCCAAATCAGCAGTCTCGTCCTGTGGATGCAGTGACTGGAATTTCCCATCTGCAAAGCATCTCTGTAGCCCAGATTTTGTGGAGCCTTAAGACACTCCCTCAATGCCACCCTGACCCCACGGCTGGAGAACCCTGTGCTTATGTGGTGGGCAGGGCCACTGTTGATGGAGGATGGCGGGGACGGGGTGGTGCTCAAAGGATCTGTGGTGCTGGAGGTCTACACGCCTCTCAGGACAGCGTGTCAGGAACCTCAGAGCAGCTTCACATCTGCCAAAGCTGAGAGGGAGCGAACTTGGGAAGCATTTTGCTCATTGTCCTACCCAAGTATTAATAGCATAATAGTTGATGCCAAAGGAGATGGTGACGTCCCTTCCACTGTAGTTGCTGTCACAACCTTGACGTCTTTAAGCTAATGGCCGTTTGCATCTGTGTCTTCAAACAGATCCTGGTTACAGCCATTTTGTGTGATTCACTTCGGGGGTTAAGTAATGCAGGATTCTGCAAACAAGGTGTCGCCGTCCAAATGTACTGTCCTGGCATAGAGAGCACTGCTTTGTTTTCCACTGTTGTAGAGAAAACTAGGGAGAACTTTATTTTTCAATAAACTTTTCTTGTGTGA)$ . 11CO058 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 8 0 28 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(2),mismatches(2) CGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCgCAAGGCGCATTgCGGGGGG...CAgCTTCgTCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGtGGAAGTGAGAGcCATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGT(CCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO058 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 8 9 2 30 27 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(3),mismappers(1),mismatches(1) CAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCG(TCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO058 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 4 0 196 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___ATCT)AATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO058 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 7 0 17 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1) AGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCC(GTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO058 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 7 6 0 36 58 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(1),mismatches(1) ACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCC(TGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO058 ENSG00000285677.2 ENSG00000116584.20 +/- -/- chr1:156002441 chr1:155989351 exon CDS/splice-site deletion/read-through/3'-3' 8 4 0 18 28 high . . |RhoGEF_domain(100%) . . ENSG00000285677.2 ENSG00000116584.20 . ENST00000673475.1 upstream downstream . ATGCAAACTTCTGGACCATGAACAGCTCCCTTAAAAGGACCAAGAGAGAGGGGACCCCCACCAAAGTGCTGGACTGGGTTCTTAAAGGGGCCACCTGAAGCAGGACTTTTTCCCACACTGAAGTCACCAACTGACAGCAGAAACAGGTCCCCCATCTTTGGGATATCTCCCAGTTCTG|GAGGAGACTGCAAGCATCGGGATGCCCAGGCCCCAAGGAGGCCCTCTTCCTGCAGATCCGAGAAGGACTGGACACCTTTCTGGGACTGCAGCACCAGGGTGGCTACGCCTCCCGGCTG___GATCAGGATTCCTGTCATCCATCTGCTGGCCCTTTGGACCACTCGGCCACTGGCATGCTTTCCAAGTCTGTACCCGTGAG(TGGCATCAACTGTCTCTTGGACCGTTCGGATACAGATG___GGAATGTATCCCAGTCCTCTGCCATTGACCTCAGGAAACG___CTGCAGCCAGCTGGAAGGACATTCAGGTACCCGGGTAGGCTCCTCCCTGCGACAGACCTTCAGCTTCCTCTCGGGCATGACCGGAAAGGCCAAG___ACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGCTATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAA___CCTGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAG___CAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTGCAGTCCGTTTCTCTTCGAAGTAAGA___CAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGCCGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGG___ACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACAGACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAG___CAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAGGACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATG___AGCTAATCCAGACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTCCCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATCCATCGCTTGGGTGATCTGCTCATCAGCCAG___TTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAGCTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGG___AAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTGCTGGTGACTCAGCGCATCACCAAGTACCCGTTACTCATCAGCCGCATCCTGCAGCATTCCCACG___GGATCGAGGAGGAGCGCCAGGACCTGACCACAGCACTGGGGCTAGTGAAGGAGCTGCTGTCCAATGTGGACGAGGGTATTTATCAGCTGGAGAAAGGGGCCCGTCTGCAGGAGATCTACAACCGCATGGACCCTCGGGCCCAAACCCCAGTGCCTGGCAAGGGCCCCTTTGGCCGAGAGGAACTTCTGAGGCGCAAACTCATCCACGATGGCTGCCTGCTCTGGAAGACAGCGACGGGGCGCTTCAAAG___ATGTGCTAGTGCTGCTGATGACAGATGTACTGGTGTTTCTCCAGGAAAAGGACCAGAAGTACATCTTTCCTACCCTG___GACAAGCCTTCAGTGGTATCGCTGCAGAATCTAATCGTACGAGACATTGCCAACCAGGAGAAAGGGATGTTTCTGATCAGCGCAGCCCCACCTGAGATGTACGAGGTGCACACAGCATCCCGGGATGACCGGAGCACCTGGATCCGGGTCATTCAGCAGAGCGTGCGCAC___ATGCCCATCCAGGGAGGACTTCCCCCTGATTGAGACAGAGGATGAGGCTTACCTGCGGCGAATTAAGA___TGGAGTTGCAGCAGAAGGACCGGGCACTGGTGGAGCTGCTGCGAGAGAAGGTCGGGCTGTTTGCTGAGATGACCCATTTCCAGGCCGAAGAGGATGGTGGCAGTGGGATGGCCCTGCCCACCCTGCCCAGGGGCCTTTTCCGCTCTGAGTCCCTTGAGTCCCCTCGTGGCGAGCGGCTGCTGCAGGATGCCATCCGTGAGG___TGGAGGGTCTGAAAGACCTGCTGGTGGGGCCAGGAGTGGAACTGCTCTTGACACCCCGAGAGCCAGCCCTGCCCTTGGAACCAGACAGCGGTGGTAACACGAGTCCTGGGGTCACTGCCA___ATGGTGAGGCCAGAACCTTCAATGGCTCCATTGAACTCTGCAGAGCTGACTCAGACTCTAGCCAGAGG___GATCGAAATGGAAATCAGCTGAGATCACCGCAAGAG___GAGGCGTTACAGCGATTGGTCAATCTCTATGGACTTCTACATGGCCTACAG___GCAGCTGTGGCCCAGCAGGACACTCTGATGGAAGCCCGGTTCCCTGAGGGCCCTGAGCGGCGGGAGAAGCTGTGCCGAGCCAACTCTCGGGATGGGGAGGCTGGCAGGGCTGGGGCTGCCCCTGTGGCCCCTGAAAAGCAGGCCACGGAACTGGCATTACTGCAGCGGCAACATGCGCTGCTGCAGGAGGAGCTACGGCGCTGCCGGCGGCTAGGTGAAGAACGGGCAACCGAAGCTGGCAGCCTGGAGGCCCGGCTCCGGGAGAGTGAGCAGGCCCGGGCACTGCTGGAGCGTGAGGCCGAAGAGGCTCGAAGGCAGCTGGCCGCCCTGGGCCAGACCGAGCCACTCCCAGCTGAGGCCCCCTGGGCCCGCAGACCTGTGGATCCTCGGCGGCGCAGCCTCCCCGCAGGCGATGCCCTGTACTTGAGTTTCAACCCCCCACAG___CCCAGCCGAGGCACTGACCGCCTGGATCTACCTGTCACTACTCGCTCTGTCCATCGAAACTTTGAGGACCGAGAGAGGCAGGAACTGGGGAGCCCCGAAGAGCGGCTGCAAGACAGCAGTGACCCTGACACTGGCAGCGAGGAGGAAGGTAGCAGCCGTCTGTCTCCGCCCCACAGTCCACGAG___ACTTTACCAGAATGCAGGACATCCCGGAGGAGACGGAGAGCCGCGACGGGGAGGCTGTAGCCTCCGAGAGCTAAGGGGGCCCCTCCCCCCTGCCCCGTGCCCCACTGAAGAACATTACTGAGGGGGCTAACCTTGGGGACTCCAATTTGCCAATGATGAGGGAACATTTGAAAGAACTGCAAATTGTCCTTGCCAGCTCTTGGGATCCTTGGATACCTGGGGCCATTTAAGAAGCTAGGGGAATTAGGCCACAACACCCCCTGGGACATCCGAAAGCTACACCACAGATGCCAGTGGTTCATGCCTTCTTCCCGCAACTTTAGGAAAATTTATTTATTTATTGTTTATTAGTTATGGGGGGAGAGGGGAGATTTAAAGGACCAGGGACATGGGAACCAAGCCATAGGGATCAGAGGGCCTTGTCCTTGAACACTACTGGGGTATATTCAGGCTCATCCACGCAGCTGCTGGGTTCTTGCCCTAACGGCCCTCCCCTGCAACATCCGTCTTGGAGGAGAGGCTGCAGCCACAGCACCCTACTGCCCTTTAAATAAAGGAGGGCTGTGGGCAGGGCCATGTCCCTTTCTCCTCTCCCCTCAACCTCTTACTGCTGTTCTCCCTTTCTCCGTCCTTCATGGAAGCCCTGGGAGATAACCTGGCTTCCTGGAGTTGATGGAATAAAGGTTGGGGTGGCCATAATGGTTTGTTGGGGGTGAGGGAAAAAACCCACAGGGACCAGAATGTTTTGTTGTTCTTTTGTTTTCTTTTTTGTACCAAAGTCAACTGCACGTGTTTTATATTTTTAAGAGATCGTAGGCAATTAGAGATCGAAGCCTCCTATCTCCACATCTCTGAAGAAGTTGAGGGGTGGGGGAGAGAATGACTTCTGCCTTCATCTGCAGTAACGGGGGGACCTATACTGACCTCTTCCCCAGCCATTTAGAAACAAGTTCTAGGGTGGGTTGGAAAATCTCCAAGAGCCCTGACCTCATCTTCCACCTCAGCAACCATGACCTGAAACCTCAGCGTGAATTTGGGGGATTTTTCAGTGGAACCCTTGCCCCCAAATGTCGACCAGCCCCCAAATGTCGAAGAATTTTCTTCTTGCCAATTTTGTTGTTTAAAAAAAAAATTCAGGGAAAATTAAAAACCTGGAACTCC)$ . 11CO058 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 8 0 22 15 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTA)CAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 11CO058 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 16 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),low_entropy(1),mismatches(3) TTcGTTACTAGCCGGGCTGGAcGCGGcGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCC(TGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO058 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 8 0 22 128 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2),mismatches(1) CTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTG(GAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO059 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 7 1 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 . TGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGAC(TCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO059 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 8 1 29 21 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2),mismatches(1) CTTtAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAG(GAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO059 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 9 0 20 72 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . CGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAA(TCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO059 ENSG00000157764.13 ENSG00000115170.15 -/- -/- chr7:140787548 chr2:157770514 CDS/splice-site CDS/splice-site translocation 2 1 0 20 21 high in-frame . Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Raf-like_Ras-binding_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000157764.13 ENSG00000115170.15 ENST00000496384.7 ENST00000434821.7 upstream downstream . ^(CCCCGCTCCTCCGCCTCCGCCTCCGCCTCCGCCTCCCCCAGCTCTCCGCCTCCCTTCCCCCTCCCCGCCCGACAGCGGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG___GTGTGGAATATCAAACAAATGATTAAGTTGACACAGGAACATATAGAGGCCCTATTGGACAAATTTGGTGGGGAGCATAATCCACCATCAATATATCTGGAG___GCCTATGAAGAATACACCAGCAAGCTAGATGCACTCCAACAAAGAGAACAACAGTTATTGGAATCTCTGGGGAACGGAACTGATTTTTCTGTTTCTAGCTCTGCATCAATGGATACCGTTACATCTTCTTCCTCTTCTAGCCTTTCAGTGCTACCTTCATCTCTTTCAGTTTTTCAAAATCCCACAGATGTGGCACGGAGCAACCCCAAGTCACCACAAAAACCTATCGTTAGAGTCTTCCTGCCCAACAAACAGAGGACAGTG___GTACCTGCAAGGTGTGGAGTTACAGTCCGAGACAGTCTAAAGAAAGCACTGATGATGAGAGGTCTAATCCCAGAGTGCTGTGCTGTTTACAGAATTCAGGATGG___AGAGAAGAAACCAATTGGTTGGGACACTGATATTTCCTGGCTTACTGGAGAAGAATTGCATGTGGAAGTGTTGGAGAATGTTCCACTTACAACACACAACTTT___GTACGAAAAACGTTTTTCACCTTAGCATTTTGTGACTTTTGTCGAAAGCTGCTTTTCCAGGGTTTCCGCTGTCAAACATGTGGTTATAAATTTCACCAGCGTTGTAGTACAGAAGTTCCACTGATGTGTGTTAATTATGACCAACTTGA___TTTGCTGTTTGTCTCCAAGTTCTTTGAACACCACCCAATACCACAGGAAGAGGCGTCCTTAGCAGAGACTGCCCTAACATCTGGATCATCCCCTTCCGCACCCGCCTCGGACTCTATTGG___GCCCCAAATTCTCACCAGTCCGT)CTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCCCAATGTGCATATAAACACAATAGAACCTGTCAATATTGAT___GACTTGATTAGAGACCAAGGATTTCGTGGTGATGGAG|GGAAAGGCAGGTATGGTGAGGTGTGGAGGGGCAGCTGGCAAGGGGAaAATGTTGCCGTGAAGATCTTCTCCTCCCGTGATGAGAAGTCATGGTTCAGGGAAACGGAATTGTACAACACTGTGATGCTGAGGCATGAAAATATCTTAG___GTTTCATTGCTTCAGACATGACATCAAGACACTCCAGTACCCAGCTGTGGTTAATTACACATTATCATGAAATGGGATCGTTGTACGACTATCTTCAGCTTACTACTCTGGATACAGTTAGCTGC(CTTCGAATAGTGCTGTCCATAGCTAGTGGTCTTGCACATTTGCACATAGAGATATTTGGGACCCAAGGGAAACCAGCCATTGCCCATCGAGATTTAAAGAGCAAAAATATTCTGGTTAAGAAGAATGGACAGTGTTGCATAGCAGATTTGG___GCCTGGCAGTCATGCATTCCCAGAGCACCAATCAGCTTGATGTGGGGAACAATCCCCGTGTGGGCACCAAGCGCTACATGGCCCCCGAAGTTCTAGATGAAACCATCCAGGTGGATTGTTTCGATTCTTATAAAAGGGTCGATATTTGGGCCTTTGGACTTGTTTTGTGGGAAGTGGCCAGGCGGATGGTGAGCAATG___GTATAGTGGAGGATTACAAGCCACCGTTCTACGATGTGGTTCCCAATGACCCAAGTTTTGAAGATATGAGGAAGGTAGTCTGTGTGGATCAACAAAGGCCAAACATACCCAACAGATGGTTCTCAGACCCG___ACATTAACCTCTCTGGCCAAGCTAATGAAAGAATGCTGGTATCAAAATCCATCCGCAAGACTCACAGCACTGCGTATCAAAAAGACTTTGACCAAAATTGATAATTCCCTCGACAAATTGAAAACTGACTGTTGACATTTTCATAGTGTCAAGAAGGAAGATTTGACGTTGTTGTCATTGTCCAGCTGGGACCTAATGCTGGCCTGACTGGTTGTCAGAATGGAATCCATCTGTCTCCCTCCCCAAATGGCTGCTTTGACAAGGCAGACGTCGTACCCAGCCATGTGTTGGGGAGACATCAAAACCACCCTAACCTCGCTCGATGACTGTGAACTGGGCATTTCACGAACTGTTCACACTGCAGAGACTAATGTTGGACAGACACTGTTGCAAAGGTAGGGACTGGAGGAACACAGAGAAATCCTAAAAGAGATCTGGGCATTAAGTCAGTGGCTTTGCATAGCTTTCACAAGTCTCCTAGACACTCCCCACGGGAAACTCAAGGAGGTGGTGAATTTTTAATCAGCAATATTGCCTGTGCTTCTCTTCTTTATTGCACTAGGAATTCTTTGCATTCCTTACTTGCACTGTTACTCTTAATTTTAAAGACCCAACTTGCCAAAATGTTGGCTGCGTACTCCACTGGTCTGTCTTTGGATAATAGGAATTCAATTTGGCAAAACAAAATGTAATGTCAGACTTTGCTGCATTTTACACATGTGCTGATGTTTACAATGATGCCGAACATTAGGAATTGTTTATACACAACTTTGCAAATTATTTATTACTTGTGCACTTAGTAGTTTTTACAAAACTGCTTTGTGCATATGTTAAAGCTTATTTTTATGTGGTCTTATGATTTTATTACAGAAATGTTTTTAACACTATACTCTAAAATGGACATTTTCTTTTATTATCAGTTAAAATCACATTTTAAGTGCTTCACATTTGTATGTGTGTAGACTGTAACTTTTTTTCAGTTCATATGCAGAACGTATTTAGCCATTACCCACGTGACACCACCGAATATATTACTGATTTAGAAGCAAAGATTTCAGTAGAATTTTAGTCCTGAACGCTACGGGGAAAATGCATTTTCTTCAGAATTATCCATTACGTGCATTTAAACTCTGCCAGAAAAAAATAACTATTTTGTTTTAATCTACTTTTTGTATTTAGTAGTTATTTGTATAAATTAAATAAACTGTTTTCAAGTCAAA)$ MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDSLKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPIPQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQRDRSSSAPNVHINTIEPVNIDDLIRDQGFRGDG|gKGRYGEVWRGSWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALRIKKTLTKIDNSLDKLKTDC* 11CO059 ENSG00000115170.15 ENSG00000157764.13 -/- -/- chr2:157774088 chr7:140783157 CDS/splice-site CDS/splice-site translocation 1 0 2 24 12 high in-frame . Activin_types_I_and_II_receptor_domain(100%),Protein_kinase_domain(100%),Transforming_growth_factor_beta_type_I_GS-motif(100%)|Protein_kinase_domain(100%) . . ENSG00000115170.15 ENSG00000157764.13 ENST00000434821.7 ENST00000496384.7 upstream downstream . ^(GCTCTTTGCAGCCGCCGCCGCCGCCGCAGCCTCCCCCTCGGCGCAGGGGGAACTTTTCTACTCTCTGTGACGGTCTCCCCCGCCGCCCCCGGGGGCAAGCCCAGCTGGTCCGCCCGCCCCGCCCGCGGTCGTGCTCCCAGCCCGAGCCTCTGCGCCTCGGGAAGTTTATTCTGCCCGCCCTCCTCCCCTTCCTCCTCCTCTTCACCCCGCCTCCCCGCCCTCCCCCGGCTCTTTCCCCCGGGTGGCTGCCGCTGCCGCCGCTGCCGCTGCCAGCCTGCTCCTCGGCCAGCCGCGCCGGCCCCAGGGCCGGGAAGCTCCCGGCCCCACGCACCGCTCCGCTGCAGCCACCGCAGCCGCCGCCGCTCTGGGCCGGCCCTCGGCCCCCGGCTCCCGGCCCCGCAGAGTTCCGGGCTCCCTCGCCGGCTGCACCGCCCCGCCCCGCCCCGCGCCGCCCCGCGCCGCGCCGACCTGCAGCGCCCGGCTGCCTCGCACTCCGCCTCCCCCGGCTCAGCCCCCGGCCGCGGCGGGACCCGAG___CCTGGAGCATTGGTAAGCGTCACACTGCCAAAGTGAGAGCTGCTGGAGAACTCATAATCCCAGGAACGCCTCTTCTACTCTCCGAGTACCCCAGTGACCAGAGTGAGAGAAGCTCTGAACGAGGGCACGCGGCTTGAAGGACTGTGGGCAGATGTGACCAAGAGCCTGCATTAAG___TTGTACAATGGTAGATGGAGTGATGATTCTTCCTGTGCTTATCATGATTGCTCTCCCCTCCCCTAGTATGGAAG___ATGAGAAGCCCAAGGTCAACCCCAAACTCTACATGTGTGTGTGTGAAGGTCTCTCCTGCGGTAATGAGGACCACTGTGAAGGCCAGCAGTGCTTTTCCTCACTGAGCATCAACGATGGCTTCCACGTCTACCAGAAAGGCTGCTTCCAGGTTTATGAGCAGGGAAAGATGACCTGTAAGACCCCGCCGTCCCCTGGCCAAGCCGTGGAGTGCTGCCAAGGGGACTGGTGTAACAGGAACATCACGGCCCAGCTGCCCACTAAAG___GAAAATCCTTCCCTGGAACACAGAATTTCCACTTGGAGGTTGGCCTCATTATTCTCTCTGTAGTGTTCGCAGTATGTCTTTTAGCCTGCCTGCTGGGAGTTGCTCTCCGAAAATTTAAAAGGCGCAACCAAGAACGCCTCAATCCCCGAGACGTGGAGTATGG)CACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTAGCA___GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG|GATCAACCACAGGTTTGTCTGCTACCCCCCCTGCCTCATTACCTGGCTCACTAACTAACGTGAAAGCCTTACAGAAATCTCCAGGACCTCAGCGAGAAAGGAAGTCATCTTCATCCTCAGAAGACAGGAATCGAATG___AAAACACTTGGTAGACGGGACTCGAGTGATGATTGGGAGATTCCTG(ATGGGCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATG___GTGATGTGGCAGTGAAAATGTTGAATGTGACAGCACCTACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAG___GAAAACACGACATGTGAATATCCTACTCTTCATGGGCTATTCCACAAAGCCACAACTGGCTATTGTTACCCAGTGGTGTGAGGGCTCCAGCTTGTATCACCATCTCCATATCATTGAGACCAAATTTGAGATGATCAAACTTATAGATATTGCACGACAGACTGCACAGGGCATGGA___TTACTTACACGCCAAGTCAATCATCCACAGAGACCTCAAGAGTAATA___ATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCCATCAGTTTGAACAGTTGTCTGGATCCATTTTGTGGATG___GCACCAGAAGTCATCAGAATGCAAGATAAAAATCCATACAGCTTTCAGTCAGATGTATATGCATTTGGAATTGTTCTGTATGAATTGATGACTGGACAGTTACCTTATTCAAACATCAACAACAGGGACCAG___ATAATTTTTATGGTGGGACGAGGATACCTGTCTCCAGATCTCAGTAAGGTACGGAGTAACTGTCCAAAAGCCATGAAGAGATTAATGGCAGAGTGCCTCAAAAAGAAAAGAGATGAGAGACCACTCTTTCCCCAA___ATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCATTGCCAAAAATTCACCGCAGTGCATCAGAACCCTCCTTGAATCGGGCTGGTTTCCAAACAGAGGATTTTAGTCTATATGCTTGTGCTTCTCCAAAAACACCCATCCAGGCAGGGGGATATG___GAGAATTTGCAGCCTTCAAGTAGCCACCATCATGGCAGCATCTGCTCTTATTTCTTAAGTCTTGTGTTCGTACAATTTGTTAACATCAAAACACAGTTCTGTTCCTCAAATCTTTTTTTAAAGATACAAAATTTCCAATGCATAAGCTGATGTGGAACAGAATGGAATTTCCCATCCAACAAAAGAGGAAAGAATGTTTTAGGAACCAGAATTCTCTGCTGCCAGTGTTTCTTCAACAAAAATACCACGAGCATACAAGTCTGCCCAGTCCCAGGAAGAAAGAGGAGAGACCCTGAATTCTGACCTTTTGATGGTCAGGCATGATGGAAAGAAACTGCTGCTACAGCTTGGGAGATTTGCTATGGAAAGTCTGCCAGTCAACTTTGCCCTTCTAACCACCAGATCAATTTGTGGCTGATCATCTGATGGGGCAGTTTCAATCACCAAGCATCGTTCTCTTTCCTGTTCTGGAATTTTGTTTTGGAGCTCTTTCCCCTAGTGACCACCAGTTAGTTTCTGAGGGATGGAACAAAAATGCAGCTTGCCCTTTCTATGTGGTGCGTGTTCAGGCCTTGACAGATTTTATCAAAAGGAAACTATTTTATTTAAATGGAGGCTGAGTGGTGAGTAGATGTGTCTTGGTATGGAGGAAAAGGGCATGCTGCATCTTCTTCCTGACCTCCGGGGTCTCTGGCCTTTTGTTTCCTTGCTCACTGAGGGGTCTGTCTAACCAAGCAGGCTAGATAGTGCTGGCACACATTGCCTTCTTTCTCATTGGGTCCAGCAATGAAGATAAGTGTTTGGGTTTTTTTTTTTTCCTCCACAATGTAGCAAATTCTCAGGAAATACAGTTTATATCTTCCTCCTATGCTCTTCCAGTCACCAACTACTTATGCGGCTACTTTGTCCAGGGCACAAAATGCCGTGGCAGTATCTAACTAAACCCCCACAAAACTGCTTAATAACAGTTTTGAATGTGAGAAATTTAGATAATTTAAATATAAGGTACAGGTTTTAATTTCTGAGTTTCTTCTTTTCTATTTTTATTAAAAAGAAAATAATTTTCAGATTTAATTGAATTGGAAAAAAACAATACTTCCCACCAGAATTATATATCCTGAAAATTGTATTTTTGTTATATAAACAACTTTTAAGAAAGATCATTATCCTTTTCTCTACCTAAATATGAGGAGTCTTAGCATAATGACAAATATTTATAATTTTTCAATTAATGGTACTTGCTGGATCCACACTAACATCTTTGCTAATAATCTCATTGTTTCTTCCAACTGATTCCTAACACTATATCCCACATCTTCTTTCTAGTCTTTTATCTAGAATATGCAACCTAAAATAAAAATGGTGGCGTCTCCATTCATTCTCCTTCTTCCTTTTTTCCCAAGCCTGGTCTTCAAAAGGTTGGGCAATTTGGCAGCTGAATTCCCAGACAGAGAATAGAGCAATTTTAGGGATATTAGGACTGAGGGAGGGTGTGGGAAAGCTGTCATCAGTTGTTTTTATAGAAAGAACTGGCATTCATTAAGAACCTAAATCTTATCTTTGCACAAATGGAAAATATAACCTAGTTATAGCTTCCTTTGGCCTTTATTAAAGGGTAATATCAATCACAGTCATAGCAAAGAAAGCGGATGTATTAATGGCAAATTAATGGAAAACCTCCCTTATCAGGAATCTAGACTCAGAATTTAGGAACACAAATCAAATCAGACCAACCAAGCTATAGCCAAGGACTTGAAAGAAATTAAACAAGACCCAGAATAAATCAAGGAATTAGAAATTGTTATTTAAAAATTTCAGATTGTAACTCCAGGCCCTGCTGTCTATATTGCAGCCACTAAAAGCTCACTACCATTAGATTTTTGCTAACATACATGTATTCAGAAGAAAGCCTATTGAAATTTTCATTGTCTTGTAAAAGGTTGTCCTAGTAAAATGGAAAAGATCCTTAAGTTATTAATCAGTTTGAAAAGCAAATTTGTTTTTAAGTTTTACATCAGCAGGGCAGTGTCTTACAAAATTCAGAAATTGCAAAGGTGGAAATAATTCACGCTGATTTGAAGAACATCTTCTGTGCAATAATACTGCCTCTCTTGAAAAGCATTGGCTGTTTTTTCTTTTTAAATATATCTCTAGATGCTTTTAAATGTGGCTGTGTTCCCTTTACCAAGATTGGCTTCAAGTTTCCGCAGGTAGAGAGACCTGGGCTTGAACAAGAGGATGTGTTTCATGTCCTGCTGAGGAGGTAGAACATGTGCAGCCTGGGTCCGGGACTGCCTCCGTGGGGCAGGGGCAGGGGCGGTACCATTAGGGAGGAAGCTTAGCATTTCAGTTTCTTAAACAATATTCAGGGTGATACACTTTTTCTTCCCTTGCATTTTAGAATAGGCTGGTATCTCATTTGAACGGGGGAGCAGACTTGATCTCAAATGAAGCTGTGCCCAGGAGCCAGGCTTAGCATATTGAGATTTTTATAGATACCTTAAAAAATAAAATATTTAAACCTCTCTTTTCTTCCTTTTTCTATGAAATAGGTTTTTTCTCTAGTTTACAAATGACATGAAAATAGGTTTTATTTGTGTTTTATCTGCTTTATTTTTTGATGCTTAGACAACAGTTAGACTTACTGAGCTCCTAAAAAAACGAGGAAGAAGTCCTTATTTGTGAAAAGCACTTTATGAGTAATTGTATAGACAGTATGTGGCTGCGTCACTGATCATCTTGTAAGGGTGTAACAGTCTTGTCTGTAAAGTGGCTGCAGTGCCTTCTGTAGTGTGTTTTATTTTTGGTAGGGAGAGGTGAAGCCTTCTGAAAAATTTGAGAGCAACTACAGAGGATTGTTTGTAACTGTGTAGTATTCCTGATGGACTTTTTTCATCGTTAGAGTCAAGGACCTAGACTTTTGCCACTGAAATAATATTGACCAAAAAAATAGTTTATAAAAGGGATTTGTGAATAGAAAATTCAGTGTGATCATTTGTTGTTAATGTGCACCTTAAAAGAAGATTCTGTCTAGCTGTCAAATTCTGGTTCCCGAATATCTCACCCCTGATTGTATTTGAGATCTAGTAGGGCATACTGGGGCATTTTAGAAGATAAAATCCCATACAAATGATATATGCTATATTTATGTTGGTGTTGGAGAAGAAAGAGCAGTATATAAAGAAATAATTCAAGACTGCAGCACTGTCAACCTGAAACTTTGTAAATATTTCCTAGCTTCTGGTTTGGTGCGGTGACAGCACTTTCATCACAGGATGTTACCTTGTATTCACCAGGCGGAGTGCGAGCTGCTGCACATCCTCCTCAGATCTCACCTGTCCCCACTGTACATCCACCCGCCAGCTGCTTGCAAACCTCATCTCTAGCTTTAGTTCGAAACCACATTGCAGGGTTCAGGTGACCTCTACAAAAAACTACCTCTTCAGAATGAGGTAATGAATAGTTATTTATTTTAAAATATGAAAAGTCAGGAGCTCTAGAACATGACGATGATTTAAGATTTTAACTTTTTTGTGTACTTGTATTTGAGCACTCTCATTTTGTCCTAAAGGGCATTATACATTTAAGCAGTAATACTGTAAAAAAATGTGTTGCTCGGAATATCTGAATGTTGTTGAAAGTGGTGCCAGAACCGGTTTAGGGGTACGTTTCAGAATCTTAACCTTGAGTCAATTGCATGAAATTAAATAGCTGTGGTATCACTTCACTAACAGTGATGTAATTTTAATTTTCAGTAGGCTTGGCATGACAGTACATCCTCATAATGAGTTTGCTGCAGCTTTGTCACATGCACAGGCATTCATAGAAAGACCACCCAGCTAAGAGGGTAGAATGATTACTCTTTTTGCAAGATTCTCTTCTTTGTCCAAGTTGGCATTGTTAGTGCTAGGAATACCAGCACCTTGAGACGAGCAGATTCCAACCATTAGGCTATAAACACCATAGCCAGAGATGGAAGGTTTACTGTGAGTATGAACAGCAAATAGCTTACAGGTCATGAGTTGAAATGGTGTAGGTGAGGCTCTAGAAAAATACCTTGACAATTTGCCAAATGATCTTACTGTGCCTTCATGATGCAATAAAAAAGCTAACATTTTAGCAGAAATCAGTGATTTGTGAAGAGAGCAGCCACTCTGGTTTAACTCAGCTGTGTTAATAATTTTTAGAGTGCAATTTAGACTGCATAGGTAAATGCACTAAAGAGTTTATAGCCAAAATCACATTTAACAATGAGAAAACACACAGGTAAATTTTCAGTGAACAAAATTATTTTTTTAAAGCACATAATCCCTAGTATAGTCAGATATATTTATCACATAGAGCAACTAGGTTGCAAATATAGTTCAGTGACATTTCTAGAGAAACTTTTTCTACTCCCATAGGCTCTTCAAAGCATGGAACTTTTATACAACAGAAATGTTGACAGAAATTGCTGTAGTTTAGGGTTGAAGTACTGTATGATGGGCAGCAATCATGTATTAACTTAGAAGGGGAAATTGAAATATAGGACCGAATTTGGTTTTATCAGTTTCCAGAGTACTGCTGCCAACCTAGACACTGATTTTTCAGAGTTTGAAATGTAAATTTCTTCCCGGGACTTGATTGCACATGAAGCTGGACTGCGTTAGTCATCCTGTCCCAAAGCGCTGTGGGGGCCAGGGTGGAGGTCTCAAGGCATCCTTTATGACCTGGCCATTGGATGTAAAAGAAAACATATTCCATGCTGTGGTTCTTGTATCTTGTTTCATTCCTCACCATTGAAAGAGAAAGTCCATGTATTGTCTCCAGCACATCCTTGAAATGTTATACTGGGATGGATTACTGATGCCCATCGGTAGTTGAGCCCCAGAAGAGGGTAGTAGCATCTCTGCCTCAGGTGATGATTTGTAGCTTGGCCAGAGGAGAGCGGAGTCACCAGTATATCTGTGGTCCATGTTGCTAGCTCTGGTAAAATTAAAAATACTGGTAAGATGTTTGTTTTATTAGTACACTAGACAGTAAGCTCTGTTTTGTTGTTTTCAAATAACCTATTTTCACTTTTGTTTGGGCAAAGACATTTAAATTGAAATTCAATTCTAATTTTTGTTAATTGTGGAAAGGGTAATTAACAGTTCCTATCAGGTATTTTTAATGTGGAAAAGGACAGAAACCCAACTCCTAAAATCTTAAATTAAGGTAACAGTGCTTTAAAAAAAAAAAATGCATGGGGCAATTAGTCGGCAACTCAATGAGTGACTAAAGTACTTTTATTTAACATCCACAACTTCAACTGTTAAGTTTTATTAATTACTAAATCAGCTTTATTAAAATGTTGACATTTATTTAGCTATTTTGAATAATTATAGTGACTTGACGAGTGTGTATGAGGACACAGCCAATGTAAGCCAGTGTATCCATTTTTTAGAGGTGCATTTTTTTTTAAAGAATTCTGTAGATAGAAGTGCTCTGAAAACAACTAAAATATGTTTATTCATGGTAGTATCAAAAAATGTTTGTACAAACCATCTGCTTCTCCCGGCCAGCCGAGTTCATTCTCCAGCACCGTGACCGCTGGTTCTCATGTACAGCACATATGCGGGAGAGTTGGCAGAAAATTTGTGAAGAGATGCCGCAAAGGAAGGGTCTGTTGACGGGTGGGATTGGGGGTTTTGATGAAGTTGCTTAGTCCTGGTTTTGTTTTGAAAATTACTGCGTTGCATTTTTGTGTTAAGTTTTTGAACCCACGTGTGTTTTGGTGGAGTATGAGTTGGAAGTCACTGCAAACTAGCATAAACAACAAAGCTCACAGAGTAGGCACAGATGTAGAGAACAGAGACCAAAATGGGGTGAGGTGGCAGTAAATCTAGGATAGGGAAAAATTAATGTGAGGGTGGGAAATAAACTGTAATTACCTGAAATCAAATGTAAGAGTGCAATAAGTATGCTTTTTATTCTAAGCTGTGAACGGTTTTTTTAAGAATCATTCCTTCCTAATACATTTGTGTATGTTCCATAGCTGATTAAAACCAGCTATATCAACATATAATGCCTTTTTATTCATGTTAATGACCAACGTAAGTGGCTAGCCTTTATGTCTTATTTATCTTCATGTTATGTTAGTTTACATACAGGGGTGTATGTCTCTGTGCTGTCCCCTTCTCCTGCCTTCATTTTAAAATGCATCCATGGGTCCTCCGTGTTTCCTTTGGCCATGCCACATATATAGACTCAGTTTGGCCTTCATGATATCGCCTGATTTTTGAGGACTGTATCACAGTGATATGTATTTGTGGTAATCTCATTTGTTGGTTGTACATCTGATCCTTTCCTCAACATGGCAATTGCTGCCTTTCCTAAGATAGGATCATACAACTGATCAGGGGATTGAATTTGATCATTCATCAACATGTGTCTCTGAATTTTATTCAGTAGTTGTCATTGCTCTTTGGTTTAGACCAAGAAAAAGGAAATCCCCCCTTTTCATGTATTCCTTGGTTTGAGGACATGACTCCTGTAAGGGAGAGGAAAGGGAGATGCTTCCTGTTTGAACTGCAGTGAATTCACGGTTCCTGTTTCACCACTCCAAACCTTATGGCGACTCACACACACATTCCTCTTTTCTGTTACTGCCAAAGGTTCGGGTTTAGTACACTTCAGTTCCACTCAAGCATTGAAAAGGTTCTCGTGGAGTCTGGGGCGTGCCCAGTGAAAAGATGGGGACTTTTTAATTGTCCACAGACCTCTCTATACCTGCTTTGCAAAAATTACAATGGAGTAACTATTTTTAAAGCTTATTTTTCAATTCATAAAAAAGACATTTATTTTCAGTCAAATGGATGATGTCTCCCTCTTTTCCCCTATTCTCAATGTTTGCTTGAATCTTTTATTATTTTTTTTAATTCTCCCCCATACCCACTTCCTGATACTTTGGTTCTCTTTCCTGCTCAGGTCCCTTCATTTGTACTTTGGAGTTTTTCTCATGTAAATTTGTATAACAGAAAATATTGTTCAGTTTGGATAGAAAGCATGGAGAATAAAAAAAGATAGCTGAAATTCAGATTGAAGAAATTTATTTCTGTGTAAAGTTATTTAAAAACTGTATTATATAAAAGGCAAAAAAAGTTCTATGTACTTGATGTGAATATGCGAATACTGCTATAATAAAGATTGACTGCATGGAGAAGTCTTCA)$ MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECV|gSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARSLPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGEFAAFK* 11CO059 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 2 8 0 269 20 medium out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(1),mismatches(2) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGG)CTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGaGGTGGgGCAgGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGGGGTTGCGGTGAGCCGAGATCACACCATTGCACTCCAGCCTGG MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 11CO060 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 28 21 0 62 57 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),mismappers(2),mismatches(3) TCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGC(AAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO060 ENSG00000116017.11 ENSG00000064666.15 +/+ +/+ chr19:932742 chr19:1031071 CDS/splice-site CDS/splice-site deletion/read-through 14 16 0 35 161 high in-frame . |Calponin_family_repeat(100%),Calponin_homology_(CH)_domain(100%) . . ENSG00000116017.11 ENSG00000064666.15 ENST00000263620.8 ENST00000348419.7 downstream upstream duplicates(2),mismatches(1) ^(AGACGCGGACGCGGCTGGCGGCTCG___GTTTCTGCAAATGCGTGAATGAGCCGGATGCCAGCCTCTGTCCCCTGGAGCCCAGCGTGAGGAAGAGGCATGCCCCATCAGCCTTCAGCTTGAGCCCGGCGGCCCCCGCCCCCGCCCCCTGCCACCCTGCACTGCCCCGGCTCCCCCGCGGCCCCCACGCTGCAGTGCGGCCGGGCCCCCTCCCCGCAGGGGCCGCCCCCGCCGCCCACCCCTAGCGCCCGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGCCCGGGCCGCAGGGCCATGAAACTACAGGCCGTGATGGAGACGCTGTTGCAGCGGCAGCAGCGGGCGCGCCAGGAGCTGGAGGCCCGGCAGCAGCTGCCCCCCGATCCCCCTGCTGCACCCCCCGGCCGGGCCCGGGCTGCCCCCGACGAGGACAGAGAGCCCGAGAGTGCCCGGATGCAGCGGGCTCAGATGGCCGCACTGGCAGCCATGCGGGCTGCAGCTGCGGGCCTGGGACACCCAGCCAGCCCCGGCGGCTCTGAGGATGGGCCCCCAGGCTCGGAGGAGGAGGACGCGGCCCGGGAGGGGACACCGGGCTCACCCGGGCGAGGCAGAGAAGGGCCAGGAGAGGAGCACTTTGAGGACATGGCCTCCGACGAGGACAT___GAAGCCCAAATGGGAGGAGGAGGAGATGGAGGAAGACCTCGGGGAGGATGAGGAGGAGGAGGAGGAGGATTACGAGGATGAGGAGGAGGAGGAGGACGAGGAGGGGCTGGGCCCCCCAGGCCCT)GCCAGCTTGGGCACCACGGCACTGTTCCCCCGAAAGGCCCAGCCACCCCAGGCCTTCCGCGGCGATGGCGTTCCCAGGGTGCTGGGGGGCCAGGAGCGGCCGGGGCCTGGCCCTGCCCACCCCGGAGGGGCCGCCCACGTAGCCCCGCAGCTGCAGCCGCCTGACCACGGCGACTGGACTTACGAGGAGCAGTTTAAGCAG|CTCCTGTCCAAATATGACCCCCAGAAGGAGGCAGAGCTCCGCACCTGGATCGAGGGACTCACCGGCCTCTCCATCGGCCCCGACTTCCAGAAGGGCCTGAAGGATGGAACTATCTTATGCAC___ACTCATGAACAAGCTACAGCCGGGCTCCGTCCCCAAGATCAACCGCTCCATGCAGAACTGGCACCAG___CTAGAAAACCTG(TCCAACTTCATCAAGGCCATGGTCAGCTACGGCATGAACCCTGTGGACCTGTTCGAGGCCAACGACCTGTTTGAGAGTGGGAACATGACGCAGGTGCAGGTGTCTCTTCTCGCCCTGGCGGGGAAG___ATGGGCACCAACAAATGCGCCAGCCAGTCGGGCATGACTGCCTACGGCACGAGAAGGCATCTCTATGACCCCAAGAACCATATCCTGCCCCCCATGGACCACTCGACCATCAGCCTCCAGATGGGCACGAACAAGTGTGCCAGCCAG___GTGGGCATGACGGCTCCCGGGACCCGGCGGCACATCTATGATACCAAGCTGGGAACCGACAAGTGTGACAACTCCTCCATGTCCCTGCAGATGGGCTACACGCAGGGCGCCAACCAGAGCGGCCAGGTCTTCGGCCTGGGCCGGCAGATATATGACCCCAAGTACTGCCCGCAAGGCACAGTGGCCGATGGGGCTCCCTCGGGCACCGGCGACTGCCCGGACCCGGGGGAGGTCCCTGAATATCCCCCTTACTACCAGGAGGAGGCCGGCTACTGAGGCTCCCAGCACGCTCTCTCCCCACATCGTCTGCCCATCTGGGTTTTTGGGTTTTTCTGTGTTTTCATCTTTTTTTTTTTTTTCTTAACCCGTTCAGTGCTGCCAGTCAACCAAGGGTCTGTGAGTGTCAGCGTGGGATCAGGCAGCAGAGCTTTTTTCCCCTTTGCCTTGATCCTTCGCAAGGCTGAGCCACTGGGCTGTGGGGGAAGGGGTCAAGGCCATATCCCAATACGTGTAGGGCGAGGGTCCCTGCTGGCACATTCAGGCTGTGCTGGGAAGAAGAGACCTGGGCTTGGAAGGAACCGGTCCCCGACGGTTTCTGCTTGCCTCGCCTCTTCCCCCTTTTGTCAGCTGAGCAGTTTGTGGTTTCTATGCCCGCAAGTTTCAGGAAGTATTCACAAAAGAAAAATACATTTTTTCCCCCAGGGGTGGGGCAAGGACAGTGGAGAGAGTGCTAGGAAATGAGTCCCCTGGGAAAGGGGACCGGGCCGTGATGTTAAATATCTCCGGCTCCCAAGTGACTGGATTTGCCTAGGACCTTCAGACCAACAGACTTCAGACCCTCAGACCTGCCCCGGGGCCAGGTGGAGAAAGTGAGGGCCGTACAAGGAAGTGAAATTCTGAGTTGTTGGGGCTAAGCCTGACCCCCTCTCCATGCTCCCCGCCCCAACCCACTCTGGCCTCAGTAGATTTTTTTTTCAGTTGTGGTTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCACCTCCACCTTCCGGGCTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTAGCTAGGACTGCAGGTGCTCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGTGATCCGCCCGCCTCCGCCTCCCCAAGCGCTGAGATTACAGGTGTGAGCCACCGTGCCCAGCCCCTCAGTAGGTTTTAAGGAGCCCCCAGCCCTCCTCCCTTCTGGGCCCGACCAGCTTATACTGCTCCATCTTCCCCGGCCACATGCCCCGCCAAGTACTGCACAGGGACCCCCCACCCAGGGGACCTGCTCCGTGAGATAATGTGAAATACGACTGTGGACCAAACGCAATAAAACCTCTGTTTGTACGAAGAGAA)$ MKLQAVMETLLQRQQRARQELEARQQLPPDPPAAPPGRARAAPDEDREPESARMQRAQMAALAAMRAAAAGLGHPASPGGSEDGPPGSEEEDAAREGTPGSPGRGREGPGEEHFEDMASDEDMKPKWEEEEMEEDLGEDEEEEEEDYEDEEEEEDEEGLGPPGPASLGTTALFPRKAQPPQAFRGDGVPRVLGGQERPGPGPAHPGGAAHVAPQLQPPDHGDWTYEEQFKQ|LLSKYDPQKEAELRTWIEGLTGLSIGPDFQKGLKDGTILCTLMNKLQPGSVPKINRSMQNWHQLENLSNFIKAMVSYGMNPVDLFEANDLFESGNMTQVQVSLLALAGKMGTNKCASQSGMTAYGTRRHLYDPKNHILPPMDHSTISLQMGTNKCASQVGMTAPGTRRHIYDTKLGTDKCDNSSMSLQMGYTQGANQSGQVFGLGRQIYDPKYCPQGTVADGAPSGTGDCPDPGEVPEYPPYYQEEAGY* 11CO060 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 12 9 0 49 29 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(3),mismappers(2) GGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___AAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCAT(GACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO060 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 8 0 163 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGA)GGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO060 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 21 95 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) AGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAG(AACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO060 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 22 18 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) AGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCG(TCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO060 ENSG00000048707.15 ENSG00000215861.6 +/+ -/+ chr1:12267920 chr1:149320083 CDS/splice-site intron deletion/5'-5' 0 3 1 40 24 high out-of-frame . N-terminal_region_of_Chorein_or_VPS13(100%),Vacuolar_sorting-associated_protein_13__N-terminal(100%)| . . ENSG00000048707.15 ENSG00000215861.6 ENST00000620676.6 . downstream upstream mismatches(1) ^(CTGAGCGCCGCGGGCCTGCGCCATTGAGGAGCGGCGGGGAGGAAACGCCGCGCAGCGCCGGGCTGGGGCGGGCGGCCCGGGACACCGACAG___ATTTTTCTGTGACCATGAAAGAGAGAAATAAAGAATGATCCATGATTTCTAAACACCTTTTCCTGAGGATATAGTCATGTTGGAAGGCCTTGTAGCCTGGGTTCTCAATACCTATTTGGGAAAATATGTCAATAACCTGAACACTGACCAGCTCTCAGTTGCACTTCTCAAAG___GTGCTGTTGAATTAGAAAACTTGCCATTAAAGAAAGATGCCTTGAAAGAATTGGAATTACCATTTGAAGTCAAAGCTG___GCTTCATTGGGAAAGTAACCCTTCAGATTCCCTTTTATCGCCCCCATGTGGACCCTTGGGTGATCTCCATCTCCAGCCTTCACTTAATTGGAGCCCCAGAGAAAATACAGGATTTCAATGATGAAAAGGAGAAGCTGTTGGAAAGGGAACGTAAGAAAGCACTACTTCAAGCCCTGGAGGAGAAATGGAAG___AATGACCGCCAGCAGAAAGGGGAGTCCTATTGGTATTCAGTTACCGCCTCCGTAGTTACAAGGATTGTGGAGAATATTGAA___TTAAAAATTCAAGATGTCCATTTACGCTTTGAAGATGGTGTCACCAATCCCTCCCATCCTTTTGCTTTTGGCATCTGCATTAAGAATGTGTCCATGCAAAATGCTGTGAATGAGCCT___GTACAGAAACTAATGCGGAAAAAGCAATTAGACGTAGCAGAATTTAGCATCTATTGGGATGTCGATTGCACTTTACTGGGGGATTTGCCTCAGATGGAGTTACAG___GAGGCCATGGCCAGGAGCATGGAGAGTCGCAGCCATCACTACGTCCTGGAGCCTGTGTTTGCATCTGCTCTTTTGAAGAGAAACTGCTCCAAGAAGCCCCTGCGGTCTCGGCACAGTCCCCGTATTGATTGTGATATTCAGCTGGAGACCATTCCCTTGAAACTCTCTCAG___CTGCAATACCGGCAAATCATGGAATTCCTCAAGGAGCTGGAACGAAAGGAGAGGCAGGTGAAGTTCCGAAGGTGGAAACCCAAGGTGGCGATATCTAAGAA___CTGCCGAGAATGGTGGTATTTTGCTTTGAATGCTAACTTGTATGAGATCAGAGAGCAGAGGAAACGTTGCACCTGGGACTTTATGTTGCACCGCGCTCGTGATGCTGTATCTTACACTGACAAATATTTCAACAAGTTAAAAGGAGGCCTGCTGTCCACAGATGACAAG___GAGGAAATGTGTCGGATTGAAGAGGAACAGAGCTTTGAGGAATTGAAGATTTTGCGTGAACTGGTTCATGATCGATTTCACAAACAGGAAGAACTAGCAGAG___AGTCTGCGGGAGCCTCAGTTTGATTCTCCAGGAGCCTGTCCGGGAGCCCCAGAACCCGGTGGAGGCAGTGGGATGCTGCAGTATCTCCAGTCCTGGTTTCCTGGATGGGGTGGCTGGTACGGGCAGCAGACCCCAGAAGGGAATGTGGTTGAGGGACTGTCAGCAGAGCAACAGGAGCAGTGGATTCCTGAAGAGATCCTGG___GCACTGAGGAGTTTTTTGACCCCACTGCAGATGCCTCGTGTATGAACACGTATACAAAGCGAGATCATGTCTTTGCCAAACTGAATTTGCAGTTGCAGCGAGGTACAGTGACTCTGTTACACAAGGAGCAAGGAACTCCTCAAATGAATGAAAGTGCTTTCATGCAGCTCGAGTTTTCAG___A)TGTAAAcCTTCTAGCAGAGTCTCTTCCTCGAAGAAATTCCTCGaTcCTTTCAGTCCGGTTGGGTGGACTGTTTCTTCGAGACCTGGCTACAGAAGGAACTATGTTTCCTCTTCTAGTCTTCCCTAATCCA___CAAAAAGAAGTTGGCAGAGTCTCACAATCTTTTGGTCTACAAACTACATCTGCAGACAGAAGTGATCATTACCCAG|GATTAATGCTGCTTTCCAGATAAGAAGAATTCACCCCGTGTGCGTAAGGTGATTAAGGAGCCTTGGAATTATAAATACACATTCAGATTAATTTTTTTGTTCTAAGCTTTAAATAAAATTTCAAAGTATTTTATAAAATAATTAACATCCCATAG MLEGLVAWVLNTYLGKYVNNLNTDQLSVALLKGAVELENLPLKKDALKELELPFEVKAGFIGKVTLQIPFYRPHVDPWVISISSLHLIGAPEKIQDFNDEKEKLLERERKKALLQALEEKWKNDRQQKGESYWYSVTASVVTRIVENIELKIQDVHLRFEDGVTNPSHPFAFGICIKNVSMQNAVNEPVQKLMRKKQLDVAEFSIYWDVDCTLLGDLPQMELQEAMARSMESRSHHYVLEPVFASALLKRNCSKKPLRSRHSPRIDCDIQLETIPLKLSQLQYRQIMEFLKELERKERQVKFRRWKPKVAISKNCREWWYFALNANLYEIREQRKRCTWDFMLHRARDAVSYTDKYFNKLKGGLLSTDDKEEMCRIEEEQSFEELKILRELVHDRFHKQEELAESLREPQFDSPGACPGAPEPGGGSGMLQYLQSWFPGWGGWYGQQTPEGNVVEGLSAEQQEQWIPEEILGTEEFFDPTADASCMNTYTKRDHVFAKLNLQLQRGTVTLLHKEQGTPQMNESAFMQLEFSDVnLLAESLPRRNSSiLSVRLGGLFLRDLATEGTMFPLLVFPNPQKEVGRVSQSFGLQTTSADRSDHYP|glmllsr* 11CO061 ENSG00000101596.16 ENSG00000212165.2(53530),ENSG00000251955.1(150947) +/+ ./+ chr18:2707920 chr20:17036563 CDS/splice-site intergenic translocation 17 18 1 79 79 high out-of-frame . Histidine_kinase-__DNA_gyrase_B-__and_HSP90-like_ATPase(100%)| . . ENSG00000101596.16 . ENST00000320876.11 . downstream upstream duplicates(11),inconsistently_clipped(1) ^(ACAGTCCCGGCGGCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCCCTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAG___ACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTG___ATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGC___CATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTG___CTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAG___TGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGA___ATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAG___CCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGC___GCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAA___ATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAA___AATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAGA___CTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATGGACAG___GAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTG___GTCA)AGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCtATG___GAACtTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAG___GCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTG___GTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATT|GCAACTCTTGGGATTTGTAAAAGCTGATAAGAGGAGAGATTCTTCCAACACAACTGGGACTAAATCTGCAGATGGCACACCAAGCAGAGCCAAACCCACTCCCACCCTTCTGTTGTATAGGGCTGATGTTCCTGGCTTTCCTTCAGGTACCAGATGGAAAACACTCTCGAGCAACCCTCCTTGGTGACTCACTGGCTCATTATCCTACAAC MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMElQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILH|cnswdl* 11CO061 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 14 1 29 62 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(6),low_entropy(1) TCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTA(CTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO061 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 9 8 0 51 82 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(6) CTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGC(CTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO061 ENSG00000083857.14 ENSG00000237125.10 -/- +/- chr4:186663299 chr4:173583065 CDS/splice-site exon deletion/5'-5' 8 7 0 71 11 high out-of-frame . Cadherin_domain(100%)| . . ENSG00000083857.14 ENSG00000237125.10 ENST00000441802.7 . upstream downstream duplicates(4),mismatches(2) ^(GAGCGTGAGGCGCCGGCGCCGAGCTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCG___ATTCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCGAGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAGGTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGTCAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGTACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAGTAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAACGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGATTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAAAATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTCTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTTTCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAACAGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCGTGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTGTTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGAAGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAAGACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCAGAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAG___GTGTCATAGAGACGTC)AGATCGACTGGACCGTGAATCGACCTCCCATTATTGGCTAACAGTCTTTGCAACCGATCAGGGTGTCGTGCCTCTTTCATCGTTCATAGAGATCTACATAGAGGTTGAGGATGTCAATGACAATGCACCACAGACATCAGAGCCTGTTTATTACCCAGAAATCATGGAAAATTCTCCTAAAGATGTATCTGTGGTCCAGATCGAGGCATTTGATCCAGATTCGAGCTCTAATGACAAGCTCATGTACAAAATTACAAGTGGAAATCCACAAGGATTCTTTTCAATACATCCTAAAACAG|AATTACAGAATCACAAAAACCCTAGAAGTCATCCGGAAGGGAAGAAGAGAATGCGAAAGAACAGAAGAGTATAATGTTCAACATGCAGGGAAAAAAATAACAATACATATTTCAGAAATAGGAGCAGCTTCAGTGCAGGCAGTATCATGGCAGCCACTCCACGGGAGGAACGGGATCCTCTGCCAACCTTGTCAGCCACTCCAACTAAGCAGCTGCTGCACCAGGTGTGTTGCTGCTGTCTTTCTAAG MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLLQQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQLVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVGVFKIGEETGVIETSDRLDRESTSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTSEPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKT|elqnhknprshpegkkrmrknrrv* 11CO061 ENSG00000103111.15 ENSG00000279856.1(65533),ENSG00000103111.15(20360) +/+ ./+ chr16:77191633 chr16:77170830 CDS/splice-site intergenic duplication 5 5 3 47 16 high out-of-frame . Trafficking_protein_Mon1(100%)| . . ENSG00000103111.15 . ENST00000248248.8 . downstream upstream duplicates(3),mismatches(1) ^(AA)GTGTGAaGCCACCGCCGCTACGGGGAAGTAATGGTATCCGGCCAATTGAGATTCGGAGTTAAAACAG___GGATGTGCAGATGGAGGTCGGAGGAGACACTGCTGCCCCGGCCCCCGGGGGCGCGGAGGACTTGGAGGACACGCAGTTCCCCAGTGAGGAAGCTAGAGAAGGTGGAGGGGTTCACGCGGTCCCGCCGGATCCCGAAGACGAGGGCCTGGAGGAAACAG|GGATGCTGAGCTGCTGCAGGAAGCTCTTGAACATCAAGTTATGCCAGCAGAAAAAGACATCAGATTGGAAGAATGTGGGTGATGTTTTGCCTGTGGAGGGGGTGGAGGATAGCCTTGGATCCCTTGAAGCCCCTAGGACATGGGTTTAGCCACCCCATGGCACTACAGAGGGTCACGTGAcCTGGAGCTAGCAGGATAGTGCTGGTTTAGAATATTCTGCTGACATCGTCCTAGCTATCGTCAC MEVGGDTAAPAPGGAEDLEDTQFPSEEAREGGGVHAVPPDPEDEGLEET|gmlsccrkllniklcqqkktsdwknvgdvlpvegvedslgsleaprtwv* 11CO061 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 4 8 0 24 29 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(4),mismappers(1) GGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGAC(ACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO061 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 2 9 0 28 139 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(7) GGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATG(GAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO061 ENSG00000152894.14 ENSG00000146374.14 -/- +/+ chr6:128520259 chr6:127148648 CDS/splice-site CDS/splice-site inversion 23 0 0 101 96 medium in-frame Mitelman |Furin-like_repeat__cysteine-rich(100%) . . ENSG00000152894.14 ENSG00000146374.14 ENST00000368226.8 ENST00000356698.9 upstream upstream duplicates(8),mismatches(2) ^(AGAAGCGCCCGGAGCCCGCGGGGCGACGTCACCCCCGGCTCCGCCCCCGTCCCTCCCCGAGCAAAGTAACTCTTGACTAACAGGAGCAGCCTCCGCCGAGCATGGAGAGCTGCCGCCGCGGCCG)GCCGGCGACGCTGGCGACGCTTTCGCCCCTGAGGTAGTTTGGCGACCGCGAAGAAGGAAAAAGGGCGGGCGGGCGGCTGTCCTCTCACCGTCCTCACCCCGCGAGGCCCGGCCCGCTCCTCCGTCGTGGATTTCGCGGCGATCCCCCCGGCAGCTCTTTGCAAAGCTGCTTGAAACTTCTCCCAAACTCGGCATGGATACGACTGCGGCGGCGGCGCTGCCTGCTTTTGTGGCGCTCTTGCTCCTCTCTCCTTGGCCTCTCCTGGGATCGGCCCAAGGCCAGTTCTCCGCAG|TGCATCCTAACGTTAGTCAAGGCTGCCAAGGAGGCTGTGCAACATGCTCAGATTACAATGGATGTTTGTCATGTAAGCCCAG(ACTATTTTTTGCTCTGGAAAGAATTGGCATGAAGCAGATTGGAGTATGTCTCTCTTCATGTCCAAGTGGATATTATGGAACTCGATATCCAGATATAAATAAGTGTACAA___AATGCAAAGCTGACTGTGATACCTGTTTCAACAAAAATTTCTGCACAAAATGTAAAAGTGGATTTTACTTACACCTTGGAAAGTGCCTTGACAATTGCCCAGAAGGGTTGGAAGCCAACAACCATACTATGGAGTGTGTCAGTATTG___TGCACTGTGAGGTCAGTGAATGGAATCCTTGGAGTCCATGCACGAAGAAGGGAAAAACATGTGGCTTCAAAAGAGGGACTGAAACACGGGTCCGAGAAATAATACAGCATCCTTCAGCAAAGGGTAACCTGTGTCCCCCAACAAATGAGACAAGAAAGTGTACAGTGCAAAGGAAGAAGTGTCAGAAGGGAGAACGAG___GAAAAAAAGGAAGGGAGAGGAAAAGAAAAAAACCTAATAAAGGAGAAAGTAAAGAAGCAATACCTGACAGCAAAAGTCTGGAATCCAGCAAAGAAATCCCAGAGCAACGAGAAAACAAACAGCAGCAGAAGAAGCGAAAAGTCCAAGATAAACAGAAATCGGTATCAGTCAGCACTGTACACTAGAGGGTTCCATGAGATTATTGTAGACTCATGATGCTGCTATCTCAACCAGATGCCCAGGACAGGTGCTCTAGCCATTAGGACCACAAATGGACATGTCAGTTATTGCTCTGTCTAAACAACATTCCCAGTAGTTGCTATATTCTTCATACAAGCATAGTTAACAACAAAGAGCCAAAAGATCAAAGAAGGGATACTTTCAGATGGTTGTCTTGTGTGCTTCTCTGCATTTTTAAAAGACAAGACATTCTTGTACATATTATCAATAGGCTATAAGATGTAACAACGAAATGATGACATCTGGAGAAGAAACATCTTTTCCTTATAAAAATGTGTTTTCAAGCTGTTGTTTTAAGAAGCAAAAGATAGTTCTGCAAATTCAAAGATACAGTATCCCTTCAAAACAAATAGGAGTTCAGGGAAGAGAAACATCCTTCAAAGGACAGTGTTGTTTTGACCGGGAGATCTAGAGAGTGCTCAGAATTAGGGCCTGGCATTTGGAATCACAGGATTTATCATCACAGAAACAACTGTTTTAAGATTAGTTCCATCACTCTCATCCTGTATTTTTATAAGAAACACAAGAGTGCATACCAGAATTGAATATACCATATGGGATTGGAGAAAGACAAATGTGGAAGAAATCATAGAGCTGGAGACTACTTTTGTGCTTTACAAAACTGTGAAGGATTGTGGTCACCTGGAACAGGTCTCCAATCTATGTTAGCACTATGTGGCTCAGCCTCTGTTACCCCTTGGATTATATATCAACCTGTAAACATGTGCCTGTAACTTACTTCCAAAAACAAAATCATACTTATTAGAAGAAAATTCTGATTTTATAGAAAAAAAATAGAGCAAGGAGAATATAACATGTTTGCAAAGTCATGTGTTTTCTTTCTCAATGAGGGAAAAACAATTTTATTACCTGCTTAATGGTCCACCTGGAACTAAAAGGGATACTATTTTCTAACAAGGTATATCTAGTAGGGGAGAAAGCCACCACAATAAATATATTTGTTAATAGTTTTTCAAGTTTTGTTCACTCTGTTTTATTGTTTGTTTTATTGAGAAATTCTTACTCTTAGAGACTCATGAATTAAGAAAGAGAATTCTGCTAACTCAGAGAACCTGGTTCCTATGTAATTCAGAATATATTACATTTCTCAGTAATATTTGTTTTTTGAATCCACCTTTATCTGAGCCAATGGAGATTTACTTATAGCGTATTAGGAGATATTTATTCCATTTTCTTATTTTAATCAACATTCTAATTATAGACACATGGGCCTCCCTAGCTGATTTCACTGCTCCCCCTTCATTGCTTAGAAATGGGCATCATTTCTTGTATGTCAGATCCCCCTGCATCTTCAACATTTAGTCTTTTCTTCTCCATATTTTCTATCTGTGGATCTCTTTAGGGGATTGAAGTCACCCTAGCTGAAGGCCTCACCAGTGTTTCACAGAGGACACAGCCCACCCCTTGCAGGAGGAGGTATCTCTGAGTGTGCAGCACAGAATCGCATGACCCACCTTAACCTTCCTGTTGTCATGGAAGGATGCACGGCTGCTCTGTCCACTGTGATTCCTAGCCCTCTCAAGATCACTGCTTTCTGAAGAATTTGCAATGACTCTGGCTTCTGGCTGCTTATCTCTGGACACCCGTTCTCCACCAGTTGTACAGTTCATGTAATCTACTTGGCTTAATTGATTTTCCACTTCTCTCTTCCTCTTCTAAGATATAAACATTTTAAATGATTTATTCCTGTTTCTTATTCTGGTGTTTCTTTCCTTGTCCCTATGAGATAAGTGTCTCAACTCACTAAATCTATTCCCAATGTATAAAATAATTCTAATTCCATTTTCAGCTAAAACATATATTACCAAGAAGAAACAAACTTTATCCTACAGAATGATGTTAGGTAGAAATATGTCCCCAGGTTTGAGACCTTTCGGATGATTTCATATACCATCTTTCTTCTGAGTGTTACCCAGTCAAGTATAAGTAGCCAAATTATTTTTGCACATCTTTCTGTTTCTCATGTCTTCATTTATTCAACAAGCACTTACTGGGAAGGTCTACACCTGCATAGGCAATGCTGGAAAAAGGGTTAAGTAAACCAGGACATGACAATGGTGGCAAATGACTATCAGGTCTTCCCATGTGTTTGACTCAAACTTATTACCCTATGGTCCTTCTGACAATGGCAGAAGGTCTGAATCCTTGATGCTAAACTTATATAAAAGTAGAATTATTACAAAGGAAAAAGAAATAAAAACTAACATTCATTTTCATATGTTGGATGAAATATAAATGAAGAAAAAGATAACATCAATTTTAACTGTAATTCTCCATCCACCAGTAACAGATCCTTAAGACAATAGAATCATACAGTATTCAAACCAGCAGCCTTCTCAAATTTGAGCAAAAACTCTATCAACCTCTGGTAAAGTTCCTACACTAGTCACAGAAGGTGTTAACTTTCTACTCTGATTCTGTCTCCATAATGGGGTAAACTGTTGATAGTTTACCCCATCAACAGATGGTCGGTAAATTATTGATTCGAAGAATCGAGAGAGTGCAGCAACATAAATCTGTTAATGTCTGATCAAGCTCCTGCCCTGTTCTCCGAATTCAGCTTCATAATTAAGGGAAGGCCTGTTTTCTATCCTCAGATTTAGGTTCTAGTAGCAGTTGTGTAACCACTAGTGAGTCACTTAACTCCTCTGGGTCCCCATTTCTCATGTGCAACAAGAAAGAGGGGAACTGGAGATGATCACTCTAGTTCCAGACAAGGGAACATTTCACACTTTGTTTACTTCAGGGTGATGTCCCTGAGTCCTCATTAGTGACTGCGTCCTTTGGAAGTTATCCCAACCCTGCTTTTCTCAAAAGTGAAAATGTATAGGCTCTCAGAGGAGACAGATTTAACTCTGCTTCTCTAATGTTATTGAATTAAAAGCTGTTCACATTAGTGGTTATTAAATATTGAAATAACACTGGGAAGAAAAAGCATATATAAATACAGCTAAAAACAAGAATAGATATTCATTCTCACAAAGGGAGACAGCAAAGAAAATGGAAAGTGCACTGGTGCTAGCGTTAGACAGCTTGTGTTAATGTCTCAATTCTGCTACTAACTGGTTGCAGCTTGTGTGACCTTGGGCACATTGTATGATCTCGCAGAATATCATCCCAAATCTGCAAAATGGAATTGGCATCATCTCTTTTGCAAGATTGTTATGAGAATTAAAAGGTTCTTCATTCAATATAATAATAAATATTTTGTATATAAATGAATATCAATTAAAAGTTATGACTAATTCCACAAGTCAAACATATAAATTTTATTTCTTGATTCATGATATGTGATAGTATTCATAAAAATGTACATGCATGATAATTTCAAGGAATAAGTATATATGTGAGAATCATGGAAATGAAATTAATAATATTAACTAGTAATTAAATTGTAA)$ MDTTAAAALPAFVALLLLSPWPLLGSAQGQFSA|vHPNVSQGCQGGCATCSDYNGCLSCKPRLFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYLHLGKCLDNCPEGLEANNHTMECVSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREIIQHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNKGESKEAIPDSKSLESSKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH* 11CO061 ENSG00000279223.1(20042),ENSG00000231840.2(10988) ENSG00000197448.14 ./+ +/+ chr7:143244276 chr7:143263148 intergenic 5'UTR deletion/read-through 1 14 2 57 46 medium . . |DSBA-like_thioredoxin_domain(100%) . . . ENSG00000197448.14 . ENST00000358406.10 downstream upstream duplicates(6),inconsistently_clipped(1) TGGTGGAGGATACTGATGACTTCAACGTAATATG___AAAGGACGTGAAAATGAAAATACTTGAGTGGCCTGAGATTTGCCTAGGGAATCATCTTAGAAGCAAAGAAGGAAAAGAACATCACGGAAATTCCCGCAGGCATAATTCCATGGACAGAACTAGACAACGTATTCTCTAGCAGTTTTGAAACCAAGATCAG|CTCGTCCCATGCTCAGGAATGACCAAGGGCAGTTTGGAGGTTAAAGGCACGATGGAGTTG___ATCCTGTGCCGGTATCAGAATATCTGGAACATCAACCTGCAGTTGCGGCCCAGCCTCATAACAGGGATCATGAAAGACAGTG___GAAACAAGCCTCCAGGTCTGCTTCCCCGCAAAGGACTATACATGGCAAATGACTTAAAGCTCCTGAGACACCATCTCCAGATTCCCATCCACTTCCCCAAGG(ATTTCTTGTCTGTGATGCTTGAAAAAG___GAAGTTTGTCTGCCATGCGTTTCCTCACCGCCGTGAACTTGGAGCATCCAGAGATGCTGGAGAAAGCGTCCCGGGAGCTGTGGATGCGCGTCTGGTCAAGG___AATGAAGACATCACCGAGCCGCAGAGCATCCTGGCG___GCTGCAGAGAAGGCTGGTATGTCTGCAGAACAAGCCCAGGGACTTCTGGAAAAGATCGCAACGCCAAAGGTGAAGAACCAGCTCAAGGAGACCACTGAGGCAGCCTGCAGATACGGA___GCCTTTGGGCTGCCCATCACCGTGGCCCATGTGGATGGCCAAACCCACATGTTATTTGGCTCTGACCGGATGGAGCTGCTGGCGCACCTGCTGG___GAGAGAAGTGGATGGGCCCTATACCTCCAGCCGTGAATGCCAGACTTTAAGATTGCCCGGAGGAAGCAAACTCTTCGTATAAAAAAAGCAGGCCATCTGCTTAACCCTTGGCTCCACCATAAGGCACTGGGACTCGGATTTCTCTATCTGATAGAGGTATTTTCTGTGGCCCTGGGAGCTGTCTGTCTTTCCCCTACCCCCAAGGATGCCAGGAAGACGTCCACCATTAGCCATGTGGCAACCTTTACTTCTATGCCTCACAAGTGCCTTTCAGAGAGCCCCAATTCTGCTTTCCCACAAAATAAACCTAATGCCATCAGGCAAAACA)$ . 11CO061 ENSG00000162613.16(13774),ENSG00000273338.1(11480) ENSG00000162616.9 ./+ +/+ chr1:77992866 chr1:78013051 intergenic CDS/splice-site deletion/read-through 1 0 1 6 139 medium . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(3),mismappers(1) TTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG___AGTCTCTGTTGCCCAGGCTGGAATGCAATGGTGCGATCTCgGTCACTgCAACCTCTGCCTCCCGGGTTCAAGCGATTATCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTT(AGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 11CO062 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 16 10 0 35 48 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(8),mismatches(2) GCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGG(ACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO062 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 10 0 26 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(5),mismatches(1) TGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACG(ACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO062 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 19 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(6),mismappers(1),mismatches(1) AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCAC(CCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO062 ENSG00000152894.14 ENSG00000146374.14 -/- +/+ chr6:128520259 chr6:127148648 CDS/splice-site CDS/splice-site inversion 9 0 0 72 41 medium in-frame Mitelman |Furin-like_repeat__cysteine-rich(100%) . . ENSG00000152894.14 ENSG00000146374.14 ENST00000368226.8 ENST00000356698.9 upstream upstream duplicates(7) ^(AGAAGCGCCCGGAGCCCGCGGGGCGACGTCACCCCCGGCTCCGCCCCCGTCCCTCCCCGAGCAAAGTAACTCTTGACTAACAGGAGCAGCCTCCGCCGAGCATGGAGAGCTGCCGCCGCGGCCGGCCGGCGACGCTGGCGACGCTTTCGCCCCTGAGGTAGTTTGGCGACCGCGAAGAAGGAAAAAGGGCGGGCGGGCGGCTGTCCTCTCACCGTCCTCACCCCGCGAGGCCCGGCCCG)CTCCTCCGTCGTGGATTTCGCGGCGATCCCCCCGGCAGCTCTTTGCAAAGCTGCTTGAAACTTCTCCCAAACTCGGCATGGATACGACTGCGGCGGCGGCGCTGCCTGCTTTTGTGGCGCTCTTGCTCCTCTCTCCTTGGCCTCTCCTGGGATCGGCCCAAGGCCAGTTCTCCGCAG|TGCATCCTAACGTTAGTCAAGGCTGCCAAGGAGGCTGTGCAACATGCTCAGATTACAATGGATGTTTGTCATGTAAGCCCAG(ACTATTTTTTGCTCTGGAAAGAATTGGCATGAAGCAGATTGGAGTATGTCTCTCTTCATGTCCAAGTGGATATTATGGAACTCGATATCCAGATATAAATAAGTGTACAA___AATGCAAAGCTGACTGTGATACCTGTTTCAACAAAAATTTCTGCACAAAATGTAAAAGTGGATTTTACTTACACCTTGGAAAGTGCCTTGACAATTGCCCAGAAGGGTTGGAAGCCAACAACCATACTATGGAGTGTGTCAGTATTG___TGCACTGTGAGGTCAGTGAATGGAATCCTTGGAGTCCATGCACGAAGAAGGGAAAAACATGTGGCTTCAAAAGAGGGACTGAAACACGGGTCCGAGAAATAATACAGCATCCTTCAGCAAAGGGTAACCTGTGTCCCCCAACAAATGAGACAAGAAAGTGTACAGTGCAAAGGAAGAAGTGTCAGAAGGGAGAACGAG___GAAAAAAAGGAAGGGAGAGGAAAAGAAAAAAACCTAATAAAGGAGAAAGTAAAGAAGCAATACCTGACAGCAAAAGTCTGGAATCCAGCAAAGAAATCCCAGAGCAACGAGAAAACAAACAGCAGCAGAAGAAGCGAAAAGTCCAAGATAAACAGAAATCGGTATCAGTCAGCACTGTACACTAGAGGGTTCCATGAGATTATTGTAGACTCATGATGCTGCTATCTCAACCAGATGCCCAGGACAGGTGCTCTAGCCATTAGGACCACAAATGGACATGTCAGTTATTGCTCTGTCTAAACAACATTCCCAGTAGTTGCTATATTCTTCATACAAGCATAGTTAACAACAAAGAGCCAAAAGATCAAAGAAGGGATACTTTCAGATGGTTGTCTTGTGTGCTTCTCTGCATTTTTAAAAGACAAGACATTCTTGTACATATTATCAATAGGCTATAAGATGTAACAACGAAATGATGACATCTGGAGAAGAAACATCTTTTCCTTATAAAAATGTGTTTTCAAGCTGTTGTTTTAAGAAGCAAAAGATAGTTCTGCAAATTCAAAGATACAGTATCCCTTCAAAACAAATAGGAGTTCAGGGAAGAGAAACATCCTTCAAAGGACAGTGTTGTTTTGACCGGGAGATCTAGAGAGTGCTCAGAATTAGGGCCTGGCATTTGGAATCACAGGATTTATCATCACAGAAACAACTGTTTTAAGATTAGTTCCATCACTCTCATCCTGTATTTTTATAAGAAACACAAGAGTGCATACCAGAATTGAATATACCATATGGGATTGGAGAAAGACAAATGTGGAAGAAATCATAGAGCTGGAGACTACTTTTGTGCTTTACAAAACTGTGAAGGATTGTGGTCACCTGGAACAGGTCTCCAATCTATGTTAGCACTATGTGGCTCAGCCTCTGTTACCCCTTGGATTATATATCAACCTGTAAACATGTGCCTGTAACTTACTTCCAAAAACAAAATCATACTTATTAGAAGAAAATTCTGATTTTATAGAAAAAAAATAGAGCAAGGAGAATATAACATGTTTGCAAAGTCATGTGTTTTCTTTCTCAATGAGGGAAAAACAATTTTATTACCTGCTTAATGGTCCACCTGGAACTAAAAGGGATACTATTTTCTAACAAGGTATATCTAGTAGGGGAGAAAGCCACCACAATAAATATATTTGTTAATAGTTTTTCAAGTTTTGTTCACTCTGTTTTATTGTTTGTTTTATTGAGAAATTCTTACTCTTAGAGACTCATGAATTAAGAAAGAGAATTCTGCTAACTCAGAGAACCTGGTTCCTATGTAATTCAGAATATATTACATTTCTCAGTAATATTTGTTTTTTGAATCCACCTTTATCTGAGCCAATGGAGATTTACTTATAGCGTATTAGGAGATATTTATTCCATTTTCTTATTTTAATCAACATTCTAATTATAGACACATGGGCCTCCCTAGCTGATTTCACTGCTCCCCCTTCATTGCTTAGAAATGGGCATCATTTCTTGTATGTCAGATCCCCCTGCATCTTCAACATTTAGTCTTTTCTTCTCCATATTTTCTATCTGTGGATCTCTTTAGGGGATTGAAGTCACCCTAGCTGAAGGCCTCACCAGTGTTTCACAGAGGACACAGCCCACCCCTTGCAGGAGGAGGTATCTCTGAGTGTGCAGCACAGAATCGCATGACCCACCTTAACCTTCCTGTTGTCATGGAAGGATGCACGGCTGCTCTGTCCACTGTGATTCCTAGCCCTCTCAAGATCACTGCTTTCTGAAGAATTTGCAATGACTCTGGCTTCTGGCTGCTTATCTCTGGACACCCGTTCTCCACCAGTTGTACAGTTCATGTAATCTACTTGGCTTAATTGATTTTCCACTTCTCTCTTCCTCTTCTAAGATATAAACATTTTAAATGATTTATTCCTGTTTCTTATTCTGGTGTTTCTTTCCTTGTCCCTATGAGATAAGTGTCTCAACTCACTAAATCTATTCCCAATGTATAAAATAATTCTAATTCCATTTTCAGCTAAAACATATATTACCAAGAAGAAACAAACTTTATCCTACAGAATGATGTTAGGTAGAAATATGTCCCCAGGTTTGAGACCTTTCGGATGATTTCATATACCATCTTTCTTCTGAGTGTTACCCAGTCAAGTATAAGTAGCCAAATTATTTTTGCACATCTTTCTGTTTCTCATGTCTTCATTTATTCAACAAGCACTTACTGGGAAGGTCTACACCTGCATAGGCAATGCTGGAAAAAGGGTTAAGTAAACCAGGACATGACAATGGTGGCAAATGACTATCAGGTCTTCCCATGTGTTTGACTCAAACTTATTACCCTATGGTCCTTCTGACAATGGCAGAAGGTCTGAATCCTTGATGCTAAACTTATATAAAAGTAGAATTATTACAAAGGAAAAAGAAATAAAAACTAACATTCATTTTCATATGTTGGATGAAATATAAATGAAGAAAAAGATAACATCAATTTTAACTGTAATTCTCCATCCACCAGTAACAGATCCTTAAGACAATAGAATCATACAGTATTCAAACCAGCAGCCTTCTCAAATTTGAGCAAAAACTCTATCAACCTCTGGTAAAGTTCCTACACTAGTCACAGAAGGTGTTAACTTTCTACTCTGATTCTGTCTCCATAATGGGGTAAACTGTTGATAGTTTACCCCATCAACAGATGGTCGGTAAATTATTGATTCGAAGAATCGAGAGAGTGCAGCAACATAAATCTGTTAATGTCTGATCAAGCTCCTGCCCTGTTCTCCGAATTCAGCTTCATAATTAAGGGAAGGCCTGTTTTCTATCCTCAGATTTAGGTTCTAGTAGCAGTTGTGTAACCACTAGTGAGTCACTTAACTCCTCTGGGTCCCCATTTCTCATGTGCAACAAGAAAGAGGGGAACTGGAGATGATCACTCTAGTTCCAGACAAGGGAACATTTCACACTTTGTTTACTTCAGGGTGATGTCCCTGAGTCCTCATTAGTGACTGCGTCCTTTGGAAGTTATCCCAACCCTGCTTTTCTCAAAAGTGAAAATGTATAGGCTCTCAGAGGAGACAGATTTAACTCTGCTTCTCTAATGTTATTGAATTAAAAGCTGTTCACATTAGTGGTTATTAAATATTGAAATAACACTGGGAAGAAAAAGCATATATAAATACAGCTAAAAACAAGAATAGATATTCATTCTCACAAAGGGAGACAGCAAAGAAAATGGAAAGTGCACTGGTGCTAGCGTTAGACAGCTTGTGTTAATGTCTCAATTCTGCTACTAACTGGTTGCAGCTTGTGTGACCTTGGGCACATTGTATGATCTCGCAGAATATCATCCCAAATCTGCAAAATGGAATTGGCATCATCTCTTTTGCAAGATTGTTATGAGAATTAAAAGGTTCTTCATTCAATATAATAATAAATATTTTGTATATAAATGAATATCAATTAAAAGTTATGACTAATTCCACAAGTCAAACATATAAATTTTATTTCTTGATTCATGATATGTGATAGTATTCATAAAAATGTACATGCATGATAATTTCAAGGAATAAGTATATATGTGAGAATCATGGAAATGAAATTAATAATATTAACTAGTAATTAAATTGTAA)$ MDTTAAAALPAFVALLLLSPWPLLGSAQGQFSA|vHPNVSQGCQGGCATCSDYNGCLSCKPRLFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYLHLGKCLDNCPEGLEANNHTMECVSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREIIQHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNKGESKEAIPDSKSLESSKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH* 11CO062 ENSG00000135597.18 ENSG00000182022.18(1553),ENSG00000065154.12(302152) -/- ./+ chr6:138917557 chr10:124095151 CDS/splice-site intergenic translocation 0 2 0 70 2 medium out-of-frame . Cytoskeletal-regulatory_complex_EF_hand(100%)| . . ENSG00000135597.18 . ENST00000258062.9 . upstream upstream . ^(CCGCCGCTGTCACTGTTGGTGCGGGCGCGTCGGGGCCGGGCCGGGGCACTGTAAATGGCGGCGGAGGGAGGCGGAGCGGCGGCCACGCTCAGCCCAGATCCCCCGAAACTTTAGGTTCGAAGCCCCACAACTTTCCGGGAAGCGCTGCCGCTCCGGAGGCGTGGACGGAAGGGGAAGCCGAGGCGGGAAGTCTGGGGGAATCGGCAGGGAGCCGGGGAGACTCGAACCCGCGGCGGGGGCGGAGTCCGCCAGTGCCTCGCGCCTCCGCGGCCCCCGCCTCTTTCTCTGCACCCTCCCCGCGGCCGGAGCCGGAGCCGGAGCCGGAGCCGTAGTCGCAGCCGCAGCCGCAGCCGCGCGCCGGGCCTCGCAGGCAGCGGCGCGGCGAGCGCAGCCGGGCCCCCTCCTCGCGACCTCCGGGCCCTGTTGCTCGGGCGCACCTGGCGCGTGTGAGGCCGGGGCCGGCGTTTTCGGGAAGCTAGCAGGAGGCCGGGCCACGCGCAGCCCCTGCCGGCCCAGGTTCCTGGGGCCGGGCCCCGAGTAGTGCATGCGGGGCGGGGCGGCCGTGAGCCGGAGGCGAAGATGGAAGGCTTAACGCTGAGCGATGCGGAGCAGAAATACTATTCAGATCTCTTCTCCTACTGCGACATTGAGAGCACCAAGAAGGTGGTGGTCAACGGGCGGGTGCTGGAGCTGTTCCGGGCCGCGCAGCTGCCGAACGACGTGGTCCTACAG___ATCATGGAGCTTTGTGGTGCAACAAGACTTGGTTATTTTGGAAGAAGTCAGTTCTACATTGCTTTGAAACTTGTAGCTGTTGCCCAGTCTGGTTTCCCTTTAAGAGTGGAAAGTATAAATACAG___TAAAGGACCTTCCTCTGCCAAGATTTGTTGCTTCAAAGAATGAACAGGAATCTCGCCATGCAGCCTCATATTCTTCAGATTCTGAAAATCAAGGGTCGTATTCTGGTGTAATTCCCCCACCACCTGGCAGGGGGCAAGTGAAAAAGGGATCCGTAAGCCATGATACGGTTCAGCCTCGTACATCTGCAGATGCACAG___GAACCTGCATCCCCAGTAGTTTCACCACAGCAATCCCCACCAACTTCTCCACACACATGGAGGAAGCACAGCCGTCATCCCAGCGGTGGGAATAGTGAGAGGCCTCTCGCGGGACCTGGGCCATTTTGGTCTCCCTTTGGTGAAGCACAATCAG___GTTCTTCTGCTGGTGATGCAGTGTGGTCAGGGCATTCCCCACCTCCACCTCAAGAAAACTGGGTCAGTTTTGCAGATACTCCACCAACCAGTACTCTTTTAACCATGCATCCTGCTTCTGTCCAG___GACCAGACAACAGTACGAACTGTAGCATCAGCTACAACTGCCATTGAAATTCGTAGGCAATCCAGTAGTTATGATGATCCCTGGAAAATAACAGATGAACAAAGACAGTATTATGTAAATCAGTTTAAAACCATTCAGCCTGATCTAAACGGATTTATTCCAG___GATCTGCAGCTAAAGAGTTTTTTACAAAATCAAAACTTCCTATTCTTGAACTTTCTCATATTTG___GGAACTCTCAGACTTTGATAAAGATGGTGCATTGACACTGGATGAGTTTTGTGCTGCTTTTCATCTGGTGGTTGCTAGGAAGAATGGCTATGATTTACCAGAAAAACTTCCTGAAAGCTTAATGCCCAAACTGATTGATTTGGAAGATTCAGCAG___ATGTTGGGGATCAGCCAGGTGAGGTAGGTTATTCAGGCTCTCCTGCTGAAGCTCCTCCAAGCAAGTCACCATCGATGCCATCACTAAACCAGACATGGCCTGAGCTGAATCAGAGCAGTGAG___CAGTGGGAGACATTTAGTGAACGCTCTTCAAGCTCACAAACTCTGACCCAATTTGATTCTAACATTGCACCAGCTGATCCT___GATACTGCTATTGTTCATCCAGTTCCCATTCGTATGACTCCAAGCAAAATCCACATGCAGGAAATGGAACTTAAAAGAACTGGCAGCG___ATCATACAAATCCCACTAGCCCATTACTTGTGAAACCATCTGACCTTTTAGAAGAAAATAAGATAAATTCATCG)GTGAAATTCGCTTCTGGTAATACTGTAG___ATGGTTACAGTAGTTCAGACTCTTTTACTTCTGACCCAGAACAGATCGGGAGCAATGTAACTCGTCAA|CTCCCAAGAAAAGCCTGCCTTTCAGTGAGGTTTATATACTCGAGTAATTGCATCAGGGGACACAGAGCAGGTTGCTGTTAAAGAGGGTTGGTTGTACATGCGTCTGCAAGGAAGGCCCTGGGCCAGGCAGCTGTCAGACCAGTGTGCAACGGGTTTAAACAAACACAG MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATRLGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDSENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRKHSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTSTLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDLNGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLPEKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQWETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNPTSPLLVKPSDLLEENKINSSVKFASGNTVDGYSSSDSFTSDPEQIGSNVTRQ|lprkaclsvrfiyssncirghragcc* 11CO062 ENSG00000156467.10 ENSG00000033178.13 -/- -/- chr8:96231066 chr4:67634324 CDS intron translocation 2 0 0 1290 49 medium in-frame . Ubiquinol-cytochrome_C_reductase_complex_14kD_subunit(100%)|ThiF_family(100%),Ubiquitin-activating_enzyme_active_site_(100%),Ubiquitin_fold_domain(100%) . . ENSG00000156467.10 ENSG00000033178.13 ENST00000287022.10 ENST00000322244.10 upstream downstream . ^(CTCTTTCTGGTCAAAATGGCTGGTAAGCAGGCCG___TTTCAGCATCAGGCAAGTGGCTGGATGGTATTCGAAAATGGTATTACAATGCTGCAGGATTCAATAAACTGG___GGTTAATGCGAGATGATACAATATACGAGGATGAAGATGTAAAAGAAGCCATA)AGAAGACTTCCTGAGAACCTTTATAATGACAGGATGTTTCGCATTAAGAGGGCACTGGACCTGAACTTGAAGCATCAGATCTTGCCTAAAGAGCAGTGGACCAAATATGAAGAG___GAAAATTTCTACCTTGAACCGTATCTGAAAGAGGTTATTCGGGAAAGAAAAGAAAGAGAAGAATGGG|AGTTTGAAAGTTCCTTTTCCCACAAACCTTCATTGTTTAACAAATTTTGGCAAACCTATTCATCTGCAGAAGAAGTCTTACAG___AAGATACAGAGTGG(ACACAGTTTAGAAGGCTGTTTTCAAGTTATAAAGTTACTTAGCAGAAGACCTAGAAATTGGTCCCAGTGTGTAGAATTAGCAAGATTAAAGTTTGAAAAATATTTTAACCATAAG___GCTCTTCAGCTTCTTCACTGTTTCCCTCTGGACATACGATTAAAAGATGGCA___GTTTATTTTGGCAGTCACCAAAGAGGCCACCCTCTCCAATAAAATTTGATTTAAATGAGCCTTT___GCACCTCAGTTTCCTTCAGAATGCTGCAAAACTATATGCTACAGTATATTGTATTCCATTTGCAGAAGAG___GACTTATCAGCAGATGCCCTCTTGAATATTCTTTCAGAAGTAAAGATTCAGGAATTCAAGCCTTCCAATAAG___GTTGTTCAAACAGATGAAACTGCAAGGAAACCAGACCATGTTCCTATTAGCAGTGAAGATGAGAGGAATGCAATTTTCCAACTAGAAAAGGCTATTTTATCTAATGAAGCCACCAAAA___GTGACCTTCAGATGGCAGTGCTTTCATTTGAAAAAGATGATGATCATAATGGACACATAGATTTCATCACAGCTGCATCAAATCTTCGTGCCAAAATGTACAGCATTGAACCAGCTGACCGTTTCAAAACAAAGCGCATAGCTGGTAAAATTATACCTGCTATAGCAACAACCACTGCTACAGTTTCTGGCTTG___GTTGCCTTGGAGATGATCAAAGTAACTGGTGGCTATCCATTTGAAGCTTACAAAAATTGTTTTCTTAACTTAGCCATTCCAATTGTAGTATTTACAGAGACAACTGAAGTAAGGAAAACTAAAATCAG___AAATGGAATATCATTTACAATTTGGGATCGATGGACCGTACATGGAAAAGAAGATTTCACCCTCTTGGATTTCATAAATGCAGTCAAA___GAGAAGTATGGAATTGAGCCAACAATGGTGGTACAGGGAGTCAAAATGCTTTATGTTCCTGTAATGCCTGGTCATGCAAAAAGATTGAAGTTAAC___AATGCATAAACTTGTAAAACCTACTACTGAAAAGAAATATGTGGATCTTACTGTGTCATTTGCTCCAGACATTGATGGAGATGAAGATTTGCCGGGACCTCCAGTAAGATACTACTTCAGTCATGACACTGATTAATACAAGTTGTCTTAACGTTACTCCAGGACCACTTGATTTTGGAAAGAGTGCACTTAATTCAGAAGCTAAAGAAAATCAGTTCATAATACTATGGATTTCTCTTTCATTAAGCCTTAATTTTAAGGGAAACATCAGTAAGAAACTGCACTGAAGAATTATAAAACATTTTGGGGCATAGCATACACTTGTCTAACGGTTCACACGTGGCTATGATCACAAGCAACTTTGAACTGGAATGCTATTTACAAAAGTTTTGTGTATTAATCTGTGTATTAATCTCTCTGGATAAAAAGAAGGAAAAAATATGTATGACCAGAACAGATATGGATGAAGAAATTGAAAGCAACGAATGCAACTATTCAAAAAGTTTAATTTTATGAATTTCTTTTTTGTTTAGTCTTGAAGACTGATTTTCTATGCAAATAGTGTTTGGCATCCTGCACCTCTGATATGATTTGGCTTTGAGAATTTAATACCACTGGGAAGAAGTATGGTAGTGGTGGATGAAGGGTGGATATTTTAAATTGTGCAGTTACAGTTTACTGTCCTATTACCTCTGCTCGTTTAACCAGTTTGTTATATCACTGTGTCCCCAAAATCAGGATTTTTGTTGATAGCATCAGTGTTGTAGGAGCAATAGGTCAGATGAGACATATTAACTTAGACTAAACGTGAACAGTATTATATGGACTCTCACAACGCTCTTAGAGAATCCGTGAATGTGAACAGACAAATGTGGCTAACCATTTGATTCTTCAGTATGCCTTCTAATGTGGCTATTTTATTTATGTGAGACTCTAAACCTGATTGTCCTAATATATAAAACTAAAAGATTTTGTAAAGGGAGTGTCTTTAGAAATAGATGAAATGTAGAATGTTAAAAATTATTGCTAGGGTAGTCTTTTTTTTTTCCAGAAACCTAATTAGGGTATTAAATTTTGTGTTTTTTTTGTTTTTTTTTTTTAAACAGAAGCATGTTATTTCATTCCCATTCCCAGAAAGGGAGTTAATGAAGATAAAAATTTATTTTTTAAGGTCTTTATTGAGAGAAACTTTGTTTTCTGATATGAACTATTGCAGATGTTTTTATAAATACTTTCATTAAAATGATGTAAACAGTAGTACCCAACACTGTAAACTCAGTGAAAATAGTAAATGATTCTTTTATTACTAAGACTGTCATGCATTCTGAAGCAGTTGGCTTTTTTTTAACCATAGGAAGTAATTTCCCTCTAGCTCCTTTCCTTCTACTCTCCTGCTCAGACCATTAGTAGGTACTTTGTTAAATAAAAAACTAGATTAACATCAATATTACTCCAATTTGGTATCTTTTACACTATGTATTATACCTACTTTCTTTTTATTTCATTTACAAATAGTTTAAATTACTTTATCAACCAGCTGTATTGTTTCCCTCTTGTAAAAGTACCATCAAGTGGGGAAAATGTATGTGGAAGTGGAGAGTGAATTTGTATGACTAAAGGATAATCTGTACATGGGGAAGTGGGCAAAAGTGGATAGGATGAATTTAAAGAAAATGACTACCTTTGGAAAAAAGAAATTAAATTTTGTTCACATATCCTACCCTTTCCCATTGTGCATATCCCAAGTGTCATATTTAAAACTAAGGTTACTTAAAACAGAATCCAGGAATATCAAGGCTCTGTGGCTTGGAATTTTAGAGGATAGGACTAATAAAAGGACTTTTGCAAAGAAGGCTTTTTTCCACGTTCACTTTGTTTTGTGTTCTTTGAAAGTAACTGATACTTTTCGGGTAGTTAATTCAGCAGTCCATAAATATGATCCAGTAACTTGCTTATATTTTATTGAAGTCTCGACAGCTCTTCAGAAGTAAATTTAGAACGATGCTGTCAGTTCATATTTATAGATATTAGTGTTTTAGCAGATAAAACAAAATCAACAAAAATTAAGTTCATTTTGTGATTAAACCTGCAACCATTTTTCCATTACTTTTTTTCTATAGTTAATGGTTATTGCCATGATTTCTTCTGTTTGGTTCTACTAAGCTAGAAAGCCAGGGTGAAGTTAATGATAATTCCCATTATTTTATTTCTGTACCATGAGATTGCTGTTGATGACTGAAATACCAGGTGCAAAAATTAATGATTTGATTTTTGTACAGTTTCAATGAGTATTTTTTACTTATTAAAAATAAATTAAGAAATGTAAGAATATCTTTGTAAATCATGTTTCATAAGTTGACTCCAGAGATTCTGATTTTGCTGTTTATTTTGTGAGTAATGTTGCTTTGGTGTTTCCTGATTTTCAAGTTTGCAATCATGGAGATACAGCAGTTATTAGGTGTGGAAGGACATTACCTCAAATGTCCTCAGATGGCTCCAGGAAATTCTTTTAAAACAGTTGGAGAGAAATAGTCGTGACCATGTAAAACCTAGAGGATCTGGTAAATCCCATACTACTGGTTAGGGATTTGTAAAGTCCATTTCTTTTTAGAGTTCAAAGCAGTTCTGTTACTTGTCCATAAGTTCCTCATAAATTGTCCCAAAGGTAGGACATGGAAATAAATGTATATCTTTATTTTTTAATCTACTATGTCACACTCTGGTGATATTCATGGAACATTAAAAAAGCAACTATGTTTATTTTATAATTAGTAAAATGAAGATAGAAAATTGTTCTTTTGAAATTTTTAGGGAAAAAAAAAATCTCGTGACCTAAATCTTTCCACTATAATGAATATTCATTGTGATTGCAAATATCTAATTTTATATAATCACTGTGTATGGATTTAGCGATTTTACTTTTCATAGATTCAAAAACATATAATCTGAATGCTTTCTCTGAAAAAAAAAAAATCAGAGTTGAGCTCTTGAGGATCAGAGTTAAGTATCCATTGATAATATGTGTTCATTTTGCTCTATGTCATAACTTTGTTTTTTTATTGAGAAATATATATTTTTCAAAAACACATATATATTCAAAAATACATAAAATATAAATATGCAGTTCAAGGAATAATTTTAAAGCAACTATATAACTAGCACTCAGCTTAGTAGAATATATTGACAGCAGTTCAGAAATTACACATGTAGTTCCTTCCCAGTCACAACCAGCTCCCTGCCACGTACCCTTTGGTAATTACCACTATCCTACCTTGTATGATAATTGTCTCTTTGTTTTTATAGTGTTACCACCTATGTGTGTAAACTTAAACAATACAGTTTGCTTGTTTTTGAGTTTTATTTAAAATCATACATTCTTTTGTAGCTGCATTTGTTCAAGATGGGATTGATTCATGTTGGTTGTAGCTGTACTTTATTCTTCATTATGTCTGTGTAATTTACTTTTCTGTTAATATGCCACAATTTATTTACTGTAGACAATTGGGATGTTTTTAGTTTCAGGCAATTACAGTTTCACAATGAACATCATTTTATGTAACTCCTAGTACAAAGAGTATATATTTAGGAGTAGAATTTTTTGGTCATAGGGTATTCATATCTTAAATTTTATTAGATGATTACAAATTTTTTTCTAAGCATTAGTATGTTGGTTGGTTTTGTGTTGCTATAAAGGAATATCCAAGACTCGGTAATTCATAAAGAAAAAAGGTTTATTTGGCTCATGGTTCAGCAGGTTGTACAAACATTGCACCAGCATCCCTGCAATCATGGCAGAAGGCAAAGGAGGAACTGGCGTATCACATGGCTAGAGGAGCAAGAGAGAAATAGAGGAAGTCCCAGATCATTTTTAAGAATCAGATCTCACATTAACTCATGGAGCAAGAACTCGTCATCTCAACGAGGGCACCAAGCCATTTATGAGGGATCCAGATATCCATCCCCATAACCCGAACACCTCCCACCAGCCCTCACCTCCAACACTGGGGATCACATTTCAACATGATATTTGCAGGGGACAAATATCCAAACCATATTTCTCCATATCTTGGTCAGTGCTGGTGTTAACAGTTTTTGTTTTTAATTTTGCCAATCTGGTGGATGTGCAATTGTATCTCATTGAAGTGTCACTCTGCATTTCTCTATTACCTGTGAAGTTGAGTATTTTTTCATAAGTTTATTGGCCAATTTGACTTTCTGTTTTTGTAAAGTATCTTGTCAGGACTGCCACACGTTTTTGTTGTGTTGCTAATCTTTTTCCTCATTGATTCATAAAGGATCTTTATAAATCTTATTCTTTGTTGGCTGTATAGTTGCCAATATCTTCTCCCAATTTGTGGCTTGCCTTTCCCTCCCTTATGATGTTCTTTGATAAAAACAATTTATTAATGGTTAAGTACTAGGAAGTATGAGTGTTTTAAAATTAGAGCGTGAGTTGTTTTAAAAAACCATTCCCTACCCTGGAGTCATGAAGATAGTCTTATATATCGTCTTCTTAAAGCTTTAGTTTTGCCTTTCATATTTAAATTTTTTTCATGAGGAATTAATTTGGTGTATGCTAGGAGATGCCTCACTACCGTTTATTGAAAAATCTGGGTTTTATTCCTCCTTTCTATAGTGCCACCAAAGTCATGTATTATACCCGTATGTGAATACAGATTTCATCAACATCTGTTGATGAAAAGAGTCAAACTCTGTAAATATTTTCAGAGATTATTCTGAGCCAAATATGAGTGACCATGGCCTGTGACCCAGCCCTCAGGAGGTCCAGAGAACATGTGCCCCAGGTGGTCAGAGTACATCTTGGTTTTATATAGAAGGCATGAGACATCAAATACGTTTAAGAAATGCATTGGTTTGGTTCAGAAAGGCAGGACAACTCAAAGCGGGGGCTTCCAGGGTATAGGTTAATTTAAAACATTTTCTGGTTGACAATTGGTCGAGTTTATCTGAAGACCTGGGATCAATAGGAAGGAAATATTCAGGTTAAATAAGAGATTGTGGAGAACAAGTTTTATTGTGCAGAGGAAACTCTCAGCAGACTTCAAAGAGAGCAGGTTGTAAAGTGTTTCTTATTGGACCTAAAAGGATGCCTGGGTCTTAGTTGATTATCTCCTGGATTTGGAAAGGAAGGAAGGACAAAAAAAAAATGGGTAAAGGGGAAAGGGGATTCTTTATAGAATGTAGATTTTTCCCACAAGGGATGGCTTTGCAGGGCCATTTCAAGATATGGCAGAGAAACATATTTCGGGGTAAAATATTTTGATTTTCTTTCTTGTTATGCCAGAGTCAGATTGGAAAGTTAAGTCACAATATACAGGGTTAAATAAAACCCATCTGATGAGAATTTATGGTTTGTAGAGCATGACTCCCCAGACTCCTTAGACAGGAATTTGGGCAAGATAACAAAATATCAGAGCTTAGTCCTTACATCTCTTTCTAAACATTTTTTCCCTTTTTTCTATCCCTGTGCTAGTATACCATCATCATCATCATTGTAGCTGATATATTCTTGATATCTGGCCAAACAAATCCTCCCAACTTATTGTTCTTTTAGAGTATCTTGGTTATTCTCAGCCCCTTGTATTTTCAGTTCTCATATTTCTAATTGAAAGCATGTAAATTTGTCACTCCTGCAGTTTCTAATTGTCTTGCTGAAATTTTCAATTTCTTATCTGCTTCAAAATGAAAAGCATAATTATTTTCTAGTCTGTCTAATAATTCCAGAATCAAAACCCGCCTGTGGGTCTGTTTTTATTTTGTTTGTTCTAGTCTTCATTCTTACTGTCTTGTCTCCTTGTGTGCCTGGTTACCTTTAATTATTTACCAATATTGTTTGAAAAAACTAGAAATAACTTGATGCTCAGAATGATATTTTTATCCTCCACAGAGTTTTTTGCTTCTGGCAGGTACCTGCATTAGTAATTTAGGATTATTTTGATCCAGTTTCAGATACTGAAATTTTCCAGGTCACCTAGGTGACTGAAAGCTGAGCCACAGACTGTGGTAATGCTCTTCTGTTCATCCTTATTTCTAGGGTTCAACCATTCAGGGTTTCAAAGCATGGTTTGGAGTTACCAGGCCCTTACCTCTTCACTGACCCTGGACTCTTTTTGAATCTTTAGCCCCTTAGCTCTATCTACTCAACTTCCCAGTGGCCTTTTGCAATCTATAAATACTCCTAACACAGTGGTCCCAAATGAATGGTTCATTTTTCTGAATTTCTATCTTTTCTCAGATATTATTGGCATGGTAATTATTCACCAACTTATCAGCTCCCTGCTGCCTTCCTACATCTTTGAAAAGTATATTTTATCCAGCTTTTCTAAATGTTTTCAAGTGAGAATGTTAATCCAAATTACTTAGCCCACATTATTTCCTGTTGATTATGTGTAAAATACAGTTGGTTTATTTGTATTGTTTTTGTACCTGGAAACAATAAACTCTGTAGTGATTCTCTAAA)$ MAGKQAVSASGKWLDGIRKWYYNAAGFNKLGLMRDDTIYEDEDVKEAIRRLPENLYNDRMFRIKRALDLNLKHQILPKEQWTKYEEENFYLEPYLKEVIRERKEREEW|eFESSFSHKPSLFNKFWQTYSSAEEVLQKIQSGHSLEGCFQVIKLLSRRPRNWSQCVELARLKFEKYFNHKALQLLHCFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEDLSADALLNILSEVKIQEFKPSNKVVQTDETARKPDHVPISSEDERNAIFQLEKAILSNEATKSDLQMAVLSFEKDDDHNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATTTATVSGLVALEMIKVTGGYPFEAYKNCFLNLAIPIVVFTETTEVRKTKIRNGISFTIWDRWTVHGKEDFTLLDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPTTEKKYVDLTVSFAPDIDGDEDLPGPPVRYYFSHDTD* 11CO070 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 9 0 27 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(2) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCG(ACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO070 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 12 2 1 21 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 duplicates(3) GGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCC(TACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO070 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 4 1 25 24 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(8),mismatches(1) AAAGAAGAGAAAAA___AAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11CO070 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 16 20 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2) GATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAG(CAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11CO070 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 4 6 0 25 50 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(1),mismatches(1) AGGAAAGTCCACGGGATTTAAGAGCTCCATGTCAGGAACGAGAGTGAAGACCAAACATTAGAACCAAAGATTCTCCTAGCACCCCTGTAACTCAGGAAATTACAAGGGTGTTGGGAGCTCTAGGCCAGAGACTAGAGGCAGAGACCATAT...GGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAtGTGATtGTGGGCAGAGCAtAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGC(AAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO070 ENSG00000266965.1(29885),ENSG00000141429.13(27076) ENSG00000141429.13 ./+ +/+ chr18:35627484 chr18:35654560 intergenic 5'UTR deletion/read-through 2 10 0 18 87 medium . . |Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%) . . . ENSG00000141429.13 . ENST00000269195.5 downstream upstream duplicates(3),inconsistently_clipped(2) CCGCGCGCCTAGCGAG___GAGATGTGGGACATGTGGATTTGGGATATGAATTCATTTGAAAAACCACTTTGG|GGTATGAACGTGATTTCTGATGAAACTGGATTGGAATAATTTTCATGATCTTTGTATATTTATATATATATATTTTTAAATTTTGCATTTGACTTAAAGTGCCATGAGAAAATTTGCATACTGCAAGGTGGTCCTAGCCACCTCCTTGATTTGGGTACTCTTGGATATGTTCCTGCTGCTTTACTTCAGTGAATGCAACAAATGTGATGAAAAAAAGGAGAGAGGACTTCCTGCTGGAGATG___TTCTAGAGCCAGTACAAAAGCCTCATGAAGGTCCTGGAGAAATGGGGAAACCAGTCGTCATTCCTAAAGAGGATCAAGAAAAGATGAAAGAGATGTTTAAAATCAATCAGTTCAATTTAAT(GGCAAGTGAGATGATTGCACTCAACAGATCTTTACCAGATGTTAGGTTAGAAGG___GTGTAAAACAAAGGTGTATCCAGATAATCTTCCTACAACAAGTGTGGTGATTGTTTTCCACAATGAGGCTTGGAGCACACTTCTGCGAACTGTCCATAGTGTCATTAATCGCTCACCAAGACACATGATAGAAGAAATTGTTCTAGTAGATGATGCCAGTGAAAGAG___ACTTTTTGAAAAGGCCTTTAGAGAGTTATGTGAAAAAACTAAAAGTACCAGTTCATGTAATTCGAATGGAACAACGTTCTGGATTGATCAGAGCTAGATTAAAAGGAGCTGCTGTGTCTAAAGGCCAAGTGATCACCTTCCTGGATGCCCATTGTGAGTGTACAGTGGGATGGCTGGAGCCTCTCTTGGCCAGGATCAAACATGACAG___GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG___GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG___ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG___GTGTTACAAAGGTAGATTATGGAGATATATCGTCAAGAGTTGGTCTAAGACACAAACTACAATGCAAACCTTTTTCCTGGTACCTAGAGAATATATATCCTGATTCTCAAATTCCACGTCACTATTTCTCATTGGGAGAG___ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG___GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG___AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACTGAGACAATGAAAAAAAATCAACAAAATATGCTTTCTGGAGAACTGTACCTTTTATGGTTTGCTTGCACATCAGTAGTTTCTGCTGAACGTGCTGTCATAATGAAGAGATTTCCAAGATTTTTTTTCCTGATTAGAACTGGTAGCCAGTATATTAAATATTGATATAAAAATAAAAGAACTGGAACCAGATTCAGAATCATGAAAACAACATTTTTACAACAACAAAAAAACTATATTAAACAGGGTTTAAAGGAAATTAAAACAGAACTATGAGAAGTACAATTTGTTATAGTATAGTATCAAATTTCTATATAGATTTTATACCTCAGTGGGGAAAAATAACTGATTCCAATGACATTCATTTTGTTTTCATCTGTGATAGTCATGGATGCTTTTATTTTCCTTGGGGTGCTGAAATTGAGCTGAAAAAAAAAGGCTCTTTGAATATAGTTTTAATTTCTCTCTACAGTTTTTTTTGTTTGGTTTGTGGGCTGTTGGAATTGTAATTTTTAATTGCCTTCTAAAAAATGGAAATTTAACAATGTCTGATCTCAGCTGAACAAATTAGATGTTTCAGTTGCTCTTGGGTCAACTGGCTTACAGATTTACATGTGCACACACACACAAATTTCTTATCACATTTTCGACTTCTTCACTTGACCTAACTGATTATGCGAAATACCCAAGATTCATGCTACTGTACCACAGATTTGTTTTCACAGCAATAAATCTTCAGTTCTTTGTTTATGATTCCACTTAACAAAAGGCCTGCAGAAGTGATTTATTATTTGGGTATTTGGAGATAATACATTTGATGGTTTTTTGGAAAACCTTTTTCACTCCATACTCAGATATGCTTCATTGTCAAATGCATATTTAGATTAGATTATTGAATTGTAATGTTTATCTGCTGCTTTTTTTAAATAAAATTTGACTGAAAATGTTTAATTGGCATTTTTTAATGACTTAGCCAAAGAAGTGCAGCTATTATTCCATATTAATAGGCTTGCATTTCTTTTCCTAAATCTTATTTAGGCTAAATCAGTTTTATTTTTCTCTGATTTTTTTTAATACCACAGAATCACCTGAGTGTCAATTGAAAGTTGTCAATTAAAAGGTAACCTTTTAATCTCGTAGGAGGAATCTCATTAAGACATTTTTCCTGATATGTAGAGCAGTCTGTTGGCAAAAATGCATATATTTTCTTTCATATTTGTAAAATTATATTTAATGGAATTCTTTTCTTTGATTATCAAGGACTTTCACTGCAGGCAGTGCTATTTCTTGTGCCTAAGAATGTTTCCAAAAGTCGCATCGCTAATGATATTTGCCAAGTTGAGTGTACACAAAGTTTCTCATATCCTGTTCAAGTTAATCAACATCAAGCACATGGGGATGCTTTAGGGTGAGTCTATAGTACAAAATGCATAAACCATGTCCCCAGGAAATTTGAAAGGAAGCAGGTGCTGAATGGAATTTTTTTCCTTTTCCATGAGCTGTGTTAATTCTATCTCCAGTAGGCCTAATGCTTGAATAAGCAAGATGTCTAATCAATAAATTATTTTCATGCTCAGAATTTCAGGTTTTTGTACTCCAGCATAGCTTGGTCTTATTTCTTACTGTATGAAAGCTTAACAGCAATGTGATTTAAGGTTTTGTTTTAAATGGGAGATGTAAGTGATTTAATTCATGGGTACTTTTAGAACCTGATAGATAATCCCATTGCCTTTATTTTTCTAATTAAAGAATTCCTAAATACTTTGAAAATACAAAATATTCCTGAATA)$ . 11CO072 ENSG00000148429.14 ENSG00000151461.20 -/- -/- chr10:11597631 chr10:11921307 CDS/splice-site CDS/splice-site duplication 10 12 0 106 125 high out-of-frame . . . . ENSG00000148429.14 ENSG00000151461.20 ENST00000609104.5 ENST00000397053.6 upstream downstream duplicates(15),mismatches(1) ^(CGGCCGCTGCGGTGACGGTTGGCGGCGGCCGGTGAGGCGGGCGGGGCCGGAGGCGCGGAGGCGGGGTCCCGGGCGAGCCGCCCTGGGAGGCGGGGGCCGTTTCCATAGCGGCGGCAGGAGGTGTCGCGCCGGGGAACTTCCTGGTTCCCGGGCTCGGCTTCGCCGGGATCCTCTTGGAAGGGAAACAATGGGGCGGAGGGCACTGCGGTAGCCGCCGCCGCCGCCGCGCCGCGCCG)CGCCGGATCTGCTCGGCCGCCCGGGACCGCCAGCTCTGTCCGCTGCCCACAGCCTAGCAGTCGGGACCGTACTGAG___GACATGTATTCCTCTGAGAAACCTTGGACAGCAGATTTTGGTTTAATATCTGATTGGGACAACATTCAGACCCATTTCCAGTCATGA|GAGACGTTGATCCAGCAGCACGTGTCATTTCATTAGGTCCTGTATCTGATGTTGTGGTTAGTGGAGTCCTCCAGCAATTGAATGAGAGCAGTGGACACATCTCAGCAGGTCGGTCTAGAGAGTTGCGAATCTAAACCTGGGACAGGCTGGGGCCAGGAGGCAGAAACACCAGCCTCTGCCAACACCGGAACAAGCCGACGCTTCCAGACAAGGCGGAAAAGGCCTTTTGTAATGGAAATCTCGCGAGGGTTAATCTTCTCTTGAGAATGGCAGTCAAGAAATGAGATGGTTCACTTGACTACTGAGCAGTTACACC(AAGGAGAGCGTGAAGGAGATGATTGAGCCAGAGAAGAAACGGGTTGTGATGGTAATGGTGTGGGGGAAATGAACTTGAGCTTTAAACTTGATTTGAGTTTCAGTGTCTCTGAATTGAACATCCCACGTTGGAAGAAGATACATTTGGGGGCTCCAGGACTACAGTAGAAAAGTATAGAGCAAGCAGGAAAATCTTCTAGTAAAACTTACATGCAGGACAACAAAATGATGAAAGATATCCAAATACCAGATAATCCACCAGGAAGGCTTTTGTTTAGGAATTTGTTTCAAGAGGAACAAGGGATGAGGGAGAAAAATCCGTTTTATCCATCAGAGTCAGTGCTATAAAATTGCCTATTAAGGTAAAAGAAAAATGTGGAGACTATTTTACTATACAGAGAGCATTAATTCAGATGGCTTAGAAAAGTGATACCAGCCCAAGAACAGGGATCTAGGTGAGCCCATTGTAAGTATCATTGAAAACAAAACATGCCCGTCAACATGTCACAGAAAACGAACGAAGGACAACAAGAAGTGGATGAGAATATTTTGTTGACCTTCATGGGTTTACAGCCTCTGTCTCTAAACAAAGTATGGAAACAAGTAGAGCTTTTATTTTGCTTTTGTTTTTGTTTTGTTTTTTTTTTTGTTTTCCCCCACTAAATAGAAATGAGGGTCCTTAGTCTGTTTCTGACAATCTGTTAATTTCTTAGGACAGCTGTCTTTGGTTTGCTTTCCAGCAGGCGTAGTATATTTAGTCGGAGAGCACATCTGTATGCGACAACTTGATTACATCTTTTTTTCTAGCTATTTTGCATTTTTTCTTTTACCATGTTTCAGTTTCTGCATGTAGATTTAAATAAAAAACAAAACTTGTAAAGTTGTAACATTTCACATGGAAATGCTGCCCAATCTTCACCAGCTTCAGAAATCTGACCTTTGCCGATGCTGCAATAAAGTGTTGTAATTT)$ M|rdvdpaarvislgpvsdvvvsgvlqqlnessghisagrsrelri* 11CO072 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 32 93 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(7),mismatches(1) CCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO072 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 10 1 19 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(5) GGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGC?GCCACATGTGGATAGCCAGGA(AGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11CO072 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 8 0 22 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(2),mismappers(1),mismatches(1) GAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAG(ACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO072 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 34 31 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(5) GAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGG(ACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO072 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 7 4 0 15 22 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(3) GAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAG(CCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11CO072 ENSG00000160201.11 ENSG00000090932.11 -/- +/+ chr21:43104315 chr19:39498919 CDS/splice-site 5'UTR translocation 10 0 0 415 44 medium out-of-frame . Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|EGF-like_domain(100%),Human_growth_factor-like_EGF(100%),N_terminus_of_Notch_ligand(100%) . . ENSG00000160201.11 ENSG00000090932.11 ENST00000291552.8 ENST00000356433.10 upstream upstream duplicates(2) ^(CGTCGTCGCGTCCGGGTGACGTCTCCCGAGGGCGTCGGCAGGGTCGGCGGCGTCGGCAGCAGTGTCGACGGCAGCGGCGGC)GGCGGGTGGGAAATGGCGGAGTATCTGGCCTCCATCTTCGGCACCGAGAAAGACAA___AGTCAACTGTTCATTTTATTTCAAAATTGGAGCATGTCGTCATGGAGACAGGTGCTCTCGGTTGCACAATAAACCGACGTTTAGCCAG|ATATAAGGCTTGGAAGCCAGCAGCTGCGACTCCCGAGACCCCCCCACCAGAAGGCCATGGTCTCCCCACGGATGTCCGGGCTCCTCTCCCAGACTGTGATCCTAGC(GCTCATTTTCCTCCCCCAG___ACACGGCCCGCTGGCGTCTTCGAGCTGCAGATCCACTCTTTCGGGCCGGGTCCAGGCCCTGGGGCCCCGCGGTCCCCCTGCAGCGCCCGGCTCCCCTGCCGCCTCTTCTTCAGAGTCTGCCTGAAGCCTGGGCTCTCAGAGGAGGCCGCCGAGTCCCCGTGCGCCCTGGGCGCGGCGCTGAGTGCGCGCGGACCGGTCTACACCGAGCAGCCCGGAGCGCCCGCGCCTGATCTCCCACTGCCCGACGGCCTCTTGCAGGTGCCCTTCCGGGACGCCTGGCCT___GGCACCTTCTCTTTCATCATCGAAACCTGGAGAGAGGAGTTAGGAGACCAGATTGGAG___GGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGC___TGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGT___GAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATG___GCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGCACCCCGACGGCGCAAGCGCCTTGCCCGCGGCCCCGCCGGGCCTCAGGCCCGGGGACCCTCAGCGCTACCTTTTGCCTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCCAGGATGCTGGGTCTCGCTTGCTGGCTGGGACCCCGGAGCCGTCAGTCCACGCACTCCCGGATGCACTCAACAACCTAAGGACGCAGGAGGGTTCCGGGGATGGTCCGAG___CTCGTCCGTAGATTGGAATCGCCCTGAAGATGTAGACCCTCAAGGGATTTATGTCATATCTGCTCCTTCCATCTACGCTCGGGAG___GCCTGACGCGTCTCCTCCATCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCCAGTCTCTGCCCCAGAGGCTTTGGAGTTCAATCTTGAAGGGGTGTCTGGGGGAACTTTACTGTTGCAAGTTGTAAATAATGGTTATTTATATCCTATTTTTTCTCACCCCATCTCTCTAGAAACACCTATAAAGGCTATTATTGTGATCA)$ MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQ|i* 11CO072 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 2 0 188 31 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___A)TCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO072 ENSG00000181722.16 ENSG00000242880.2 -/- +/- chr3:115147219 chr3:115285293 5'UTR/splice-site exon duplication/5'-5' 0 3 0 3 4 medium . . . . . ENSG00000181722.16 ENSG00000242880.2 ENST00000357258.8 . upstream downstream duplicates(1) ^(GGGGCGGGGGGAAGTTTAGGAGTTGAGGA)AAGAAGATTAAAGAGCGCGAGGAG|GGCTAAAGGCTTGAAGTTTAAGTCTCTCTTGAAGAAACGGCCATGCTTCATTTAATCCTGCTGCAGCCAGAGTGCTGTGGATGTCATGCTTCTGATGAGACATTAAATCAAG___ACTTCAATCTAATTCACTTGGAATTCTGATGTTAG . 11CO072 ENSG00000101294.18 ENSG00000237929.1(18583),ENSG00000236121.1(10826) +/+ ./+ chr20:31527582 chr20:31330545 CDS/splice-site intergenic duplication 2 1 0 465 9 medium out-of-frame . Signal_peptide_peptidase(100%)| . . ENSG00000101294.18 . ENST00000335574.10 . downstream upstream . ^(GTGCGCGGCGCGGGCTTGGGAGGGAGCACGTCACTTCCTGTTGCCTTAGGGGAACGTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCTGCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGCGATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCACGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTTCGGCGCCCTGCGCTCCGTA)CGCTGCGCCCGCGGCAAG___AATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAA|ATGTCGTATGAACCTCCTACATGAAAATCTCTCCCAATCTGCTTTCAGAGAACCTAACCCAAGACAC MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNASDMPETITSRDAARFPIIASCTLLGLYLFFK|msyeppt* 11CO072 ENSG00000131242.18 ENSG00000285822.1(45944),ENSG00000265246.1(21605) +/+ ./+ chr17:31488272 chr17:27216254 CDS/splice-site intergenic duplication 0 2 0 3 11 medium out-of-frame . . . . ENSG00000131242.18 . ENST00000394744.6 . downstream upstream duplicates(1) ^(CGAGTCCCGGGGCCCAGGCGCCTCGTGATGTCACCGCAGCTTGATACAAAGAGCCCTTCGGCCCACGCGGGTCTCCCGGCAACGGGCGGGGGCGGGGCCGCGCCTTCCACTGGTGCCCAGAAGTGCGAGCGGCAGCGGCGCGGCCGCGATTGTTCCTGCGCTTCGGGGCTGCCCGCCGCGTCCCCGCGCGCCGCCGACCCGCGCCCGCTGGCTTCCGCGCCTCTGCCGGGGA)GCGGCCCGCGGATGCGCACCCCGCCAGCTCTCGGGAGCCAG|CATCACTTGTCCCTGGATTTCTACCATAGAAGTTTGAGAAGAACTAGTGAATGTGAGCCAGACCTACAAGATCATAAATTCCTTGCAGTTAAGAATCATCATCAAAGAGAAAAAGAAAATCATTATCATCATCATCAGAGCCAACACTTTTCATGTACTTATCCAAACCAGGCACTGTGCTGAGCCCTTTACAACTGTC MRTPPALGSQ|hhlsldfyhrslrrtsecepdlqdhkflavknhhqrekenhyhhhqsqhfsctypnqalc* 11CO072 ENSG00000198453.13 ENSG00000101901.12 +/+ +/+ chr19:36925258 chrX:111708965 CDS/splice-site CDS/splice-site translocation 0 2 0 1 15 medium . . |OTU-like_cysteine_protease(100%) . . ENSG00000198453.13 ENSG00000101901.12 ENST00000455427.6 ENST00000394780.8 downstream upstream duplicates(2) ^(ATTCGGGTGTTTCCGGCAGGTGACGCTGCCGAGTCCCCGCAGCAGGGGGCGAGCAAGGGACTCGCGGTTGACGGGACACGGATCCTCTAAGGCCCAGAGTGTCCCGAGTAGCGGCAGTGGGGAGTGCTCAGGGTACGCTAATG___ATCTGTGTCTTGTAAAGAGCATATTGCTGGGCTTACATCCGTTTATCTT)GTTTGACTGTTATTTTAATAG___CTTGGTGTTCTCAAGAGTCTGCCCTTTCCGAGGAAGAAGAGGATACAACCAGGCCTCTT|TTGTTTTGCAGCCAGGTCCATCATTTGGAAATCAGGAAGGCTTGTGTCTCATATATGAGGGAAAATCAACAAACTTTTGAGTCT___TATGTGGAGGGATCTTTTGAGAAATACCTGGAACGGTTGGGAGATCCCAAG___GAAAGTGCT(GGCCAGCTGGAAATAAGAGCTCTTTCTCTAATTTATAA___TCGGGATTTCATTCTTTATCGCTTTCCTGGAAAACCTCCAACTTATGTCACAGATAATGGCTATGAAGACAAG___ATTCTACTCTGCTACTCAAGTAGTGGTCACTATGATTCTGTGTACTCAAAACAATTTCAGTCAAGTGCAGCTGTTTGTCAGG___CTGTATTGTACGAAATTCTCTATAAAGATGTGTTTGTTGTGGATGAAGAAGAGTTGAAGACTGCGATTAAATTGTTTCGAAGTGGTTCTAAGAAGAACAGAAATAATGCTGTAACTGGAAGCGAGGATGCCCATACTGATTACAAGAGTTCAAATCAGAATAG___GATGGAAGAGTGGGGTGCCTGCTACAATGCTGAAAATATACCAGAGGGCTACAATAAAGGAACAGAAGAAACAAAG___TCTCCAGAAAATCCATCAAAGATGCCCTTCCCCTATAAGGTGCTCAAAGCCCTGGATCCAGAAATCTATCGTAATGTAGAATTTGATGTTTGGTTGGACAGCAGAAAAG___AACTTCAAAAATCTGATTACATGGAGTATGCTGGGAGACAGTACTATTTGGGAGACAAGTGTCAG___GTTTGCTTGGAATCAGAAGGAAGATATTATAATGCTCATATCCAGGAAGTTGGAAATGAGAACAATTCAGTAACAGTCTTCATTGAAGAATTGGCGGAAAA___GCATGTTGTTCCACTGGCTAACTTAAAACCAGTTACCCAAGTGATGTCTGTTCCTGCCTGGAATGCTATGCCCAGTCGGAAAGGAAGAGGTTACCAGAAAATGCCTGGGGGTTATGTCCCGGAAATAG___TTATATCAGAGATGGACATAAAGCAACAGAAGAAGATGTTCAAGAAAATTCGAGGGAAAGAAGTTTACATGACTATGGCTTACGGCAAGGGAGACCCCCTCCTCCCACCCAGGCTGCAGCACAGTATGCATTATGGGCACGATCCTCCAATGCACTACTCACAGACAGCTGGCAATGTTATGTCTAATGAACATTTTCATCCTCAGCATCCATCTCCGAGACAAGGTCGGGGATATGGGATGCCCAG___GAATTCATCTCGGTTTATAAACAGGCACAACATGCCGGGCCCTAAAGTTGATTTTTACCCAGGCCCAGGTAAAAGGTGCTGCCAGAGCTATGATAACTTCTCTTATAGATCTCG___TTCATTTAGACGTAGTCACCGCCAGATGAGTTGTGTGAATAAGGAGTCCCAGTATGGATTTACCCCAGGGAATGGACAGATGCCCAGGGGCTTGGAAGAAACTATTACTTTTTATGAAGTTGAAGAAGGGGATGAGACTGCTTATCCAACTTTACCT___AATCATGGAGGTCCCTCTACAATGGTTCCTGCTACTTCAGGATACTGTGTTGGAAGGCGGGGACATAGCTCAGGCAAACAGACTTTGAATTTAGAGGAGGGCAATGGCCAGAGTGAAAATG___GGCGATATCATGAAGAATATCTTTATCGTGCAG___AGCCAGACTATGAAACTTCAGGTGTTTATAGCACAACTGCATCTACAGCAAACTTG___TCTCTTCAGGACAGAAAGTCATGTTCTATGTCTCCTCAGGACACAGTTACCTCATACAACTACCCCCAGAAG___ATGATGGGAAATATTGCAGCAGTTGCAGCTTCCTGTGCCAATAATGTTCCAGCTCCAGTCTTATCTAACGGTGCAGCGGCTAATCAAGCTATTAGTACCACTTCAGTTTCCTCACAGAATGCTATACAGCCTCTCTTTGTATCTCCACCTACACACGGCAGGCCAG___TGATTGCCTCACCATCCTATCCATGCCATTCTGCTATTCCTCATGCTGGTGCCTCTCTACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCTTGATGTGGGAGAGACTTCAAACTTACAACCACCACCACCACTACCACCTCCACCTTATTCCTGTGATCCAAGCGGCAGTGATTTGCCTCAAG___ATACAAAAGTTTTGCAGTACTATTTCAATCTAGGATTGCAG___TGCTATTACCACAGCTACTGGCACTCCATGGTCTATGTGCCACAGATGCAGCAGCAGCTTCATGTAGAGAATTATCCAGTCTATACTGAGCCACCTCTGGTAGATCAAACCGTTCCTCAATGCTACAGTGAGGTGAGGAGAGAAGATGGCATACAGGCGGAAGCATCAGCAAATG___ATACTTTTCCGAATGCTGATTCTTCATCTGTCCCTCATGGAGCAGTCTATTATCCAGTAATGTCAGATCCCTATGGGCAGCCACCTTTGCCAGGTTTTGACTCCTGCCTTCCGGTTGTGCCAGATTATTCCTGTGTTCCCCCCTGGCATCCAGTTGGTACAGCATATGGTGGTTCTTCTCAAATTCATGGTGCTATAAATCCTGGGCCAATTGGCTGTATTGCTCCATCTCCCCCAGCTTCTCATTATGTACCTCAGGGTATGTAAGATCCAGCAGTATGAAGTATTCTTGCACTGCCATTTTCTTGCTGTTTTTGTTTTTAAAAAGTATTTTATGTTAGTGGTTAAATGATTTAGGTGATTAGTGTTTACTATTGTATTTGTCTTTAAAATTATTTTATCTTTTGATTTAAAATAGTACTTTAAAATTAAGGGGTATTATTTTGGGCTGTGACTAAGGAAATTGAGATGGATGTACAACTAGCCCCATATTGAGCATACTTCATTGTATTCAGCTGTTTTCCTGTCAGCCATTTGTCAGCTTTATATTAGCTGATGGTACCAATTGATAAAATGAATATAAAGTATTTCATTGGTTCAAAAATCACACATCATATTAAACCATGCAGAATTGGAGTAACTTCCACTTTTTTCTAGAAAGTAAAACCAAGAGCCTTTGCTTCTGGATAACTCACTTAATATTAAATTAAAGAGCTCTTCACGTTTCTTGAGAATTATCTGAAGCCAGTTGCATTCTGTGATATCAGTTTTGAAGGCACATGGTTCTCTGCTTTAGATTTATCCCATATGCTATTGTTTAATACTGGATGTATGTAAGTGTTTTACTGCACTGTATTGAATTGGTGTCTTTTGCACAGTTAGCAGTAAATAAAAATTAGCATTTAAAATTGCCAAAA)$ . 11CO077 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 16 2 48 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(12),low_entropy(1),mismatches(1) CCTCTGCCTCCTGGAGGGGAGGCCAGAGCAG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAG?GAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO077 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 10 0 216 81 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATA)GAAACATCAGAGAAGCCAAAGAGAAcCTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEnLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11CO077 ENSG00000217128.12 ENSG00000169836.5 -/- -/- chr5:131706411 chr4:103591683 CDS/splice-site CDS/splice-site translocation 1 1 1 15 5 high out-of-frame . Folliculin-interacting_protein_N-terminus(100%)|7_transmembrane_receptor_(rhodopsin_family)(100%) . . ENSG00000217128.12 ENSG00000169836.5 ENST00000615660.4 ENST00000304883.3 upstream downstream . ^(GCCCCGCCCCGCGCGCCGTGGCCGTTTGAAGTGACTAATTTCTGTCATATGACTGAGGCGCCCATGGGGGTGGCGGGGCGGCTGTAGGAGCAGGGGCCTAGCAAGCGCCCAGCGGAGCGACCCCTGCCTGGCCGTGGCTAGCATGGCCCCTACGCTGTTCCAGAAGCTCTTCAGCAAGAGGACCGGGCTGGGCGCGCCCGGCCGCGACGCCCGGGACCCAGATTGCGGGTTCAG___TTGGCCTTTACCAGAGTTTGATCCAAGCCAGATTCGACTGATTGTATATCAAGACTGTGAAAGACGAGGGAGAAATGTTTTGTTTGACTCCAGTGTTAAGAGAAGAAATGAGGACATATCAGTATCG___AAACTCGGCAGTGATGCTCAAGTTAAAGTCTTTGGGAAATGCTGCCAACTGAAACCTGGAGGAGACAGTTCTTCCTCTTTAGATAGTTCTGTGACTTCATCTTCTGATATAAAAGACCAGTGTCTTAAGTACCAG___GGTTCTCGGTGCTCTTCTGATGCCAATATGCTTGGAGAGATGATGTTTGGCTCAGTAGCAATGAGCTACAAAGGATCCACCTTAAAAATTCATCAGATTCG___TTCCCCTCCACAGCTCATGCTCAGCAAAGTGTTTACTGCTCGGACTGGCAGCAGTATTTGTGGGAGTCTCAATAC___GCTACAAGATAGTCTTGAATTCATCAATCAGGACAACAATACATTAAAGGCTGATAATAACACAGTTATTAATGGACTGCTTGGAAATATAG___GTCTTTCACAGTTCTGCAGCCCCAGGCGGGCATTCTCTGAGCAGGGTCCGCTCCGCCTGATCAGGAGCGCCTCTTTCTTTGCAG___TTCACAGCAACCCAATGGACATGCCTGGAAGAGAGCTCAATGAGGACAGAGACAGTGGCATA)GCACGGTCTG___CATCTCTCAGCAGCTTGCTGATCACTCCATTTCCTTCCCCAAACTCCTCACTTACCCGAAGTTGTGCCAGCAGCTACCAGCGACGTTGGCGACGCAGCCAAACAACAAGTTTGGAAAATGGGGTATTTCCTAGATG|GTTGTCAAAATGATGATTATTGTTGTCATGACATTTGCTATCTGCTGGCTGCCCTATCATATTTACTTCATTCTCACTGCAATCTATCAACAACTAAATAGATGGAAATACATCCAGCAGGTCTACCTGGCTAGCTTTTGGCTGGCAATGAGCTCAACCATGTAC(AATCCCATCATCTACTGCTGTCTGAATAAAAG___ATTTCGAGCTGGCTTCAAGAGAGCATTTCGCTGGTGTCCTTTCATCAAAGTTTCCAGCTATGATGAGCTAGAGCTCAAGACCACCAGGTTTCATCCAAACCGGCAAAGCAGTATGTACACCGTGACCAGAATGGAGTCCATGACAGTCGTGTTTGACCCCAACGATGCAGACACCACCAGGTCCAGTCGGAAGAAAAGAGCAACGCCAAGAGACCCAAGTTTCAATGGCTGCTCTCGCAGGAATTCCAAATCTGCCTCCGCCACTTCAAGTTTCATAAGCTCACCCTATACCTCTGTGGATGAATATTCTTAATTCCATTTCCTGAGGTAAAAGATTAGTGTGAGACCATCATGGTGCCAGTCTAGGACCCCATTCTCCTATTTACCAGTCCTGTCCTATATACCCTCTAGAAACAGAAAGCAATTTTTAGGCAGCTATGGTCAAATTGAGAAAGGTAGTGTATAAATGTGACAAAGACACTAATAACATGTTAGCCTCCACCCAAAATAAAATGGGCTTTAAATTTATTCTTTGAAAACTCTAAATTATTATATGCAATGAACAAAAATATGTCAGGAAAATACTTGTAAACTCGCCAGTCTATCTCATTTACAAATTGCAATATACATTTGTGACATTAAAATGATATATAGTTTTTCCAAGAGATTAAAGAATCTTTAAAACATAATATTGTAAGTGAAGGGAAACAAAATCTGTATAAAATCTGTATAAAATAGGCTTTTTTGCCTAGAGATATAAAATGGGAAAAAAAGTTAAATGATTCATTTTCCCACTAGAGTAATGGAAAATTAACCTCAAGAAGTAGGAACTGAAAATCTTTGCTCAAGAAAACTCATTTTGTAGAATGTAAAGATTTAAAGATTTAAAGATTTCTTCCATGGCATTTAACTGAAAAGGAAATCTAGTTAAATCATTAGGCAAATGTATATTTCATTCTCTTGATTTTTTTTCTGAGAAAGTGAAATTTTAAAAAATTATATACTTTTTGACCATTACTTATTTTTGAATACCAAGCTAAAAAGTAGTCAGTTAAGACCCTAAAAATATGAAGAAAATTCCTATCATTTTTTATTTTTCACAGATTTTTTAAATAGCTAGATTATAAAACAGTAAAGGTACATTCCAATAAATAGAGGAAGAATACTATTTATGTTCTCTTCCTCTCCCCTCACTGAAAATAGAATAAGGACTAGGAGAAAATATCTTCAAAGGCAACTCCTTAGGGAAAAAAAGTCACAAGTGTGACAAAAGACTATATGGTTGAAAAATACCAATATATGTTACATATGAGTAAACTAGGCAAGGTGTAGACAAGTGAATTACCTCTTAGAAAACGAATCTGCACAATAGTTTGGATACATGTAAACTAATAACAGCTGAGCAAGAGGGTGAGTTTAACACACATCCTTCCACAGAAAGACCTTTTCTTTCATTTGCTTAGATTATTCAGAAGTCTTACCAGAAAGAAATGAGATAATAGTCCTAAGAAAGCATCACATTTACTACAAGAAGATATATACTAGCACATTTCTGAGACTCATAACATAACAAGAAATACTTTTAAGTGTAAAAAGTAACATCCAGGCCTCAGTGCTTACAGATCATCTTTCCTTGAATTAGGGATACTGTTAATCCTGCTCAAGAAAGCAGAAACTTTTTGAGAATGTGAATGTGTAGTACAAACTTCTCCTTTAAACTCTTCAGTTTGATTTTTAAAGATATTTGTCTAAAATAATACTCTCTAACAAACACTTTACTGTTGTGCCTCCACCGATATTAAAACAAAATATTTTTGAAGAACAGAATAAAAGCAAATATTCAATGGCAAATCATGGTCTATTTCTCAAATCTCTTCCCTATTTTGAAGCCAAAACCAGAAATATCCAATTGTTACAAAAAGTTCGGAGTCTAAACAAGCTAAACATATGTGTTCCAGCTGAATTTCTTCTGATGATACCAATAAACAAAGAGACACACACACACACACACACACATACAAATGTGCCTACACATTCAATCATTTAATGAATGCAACAACTTCAAAGAATTAAAATCAAATACTGAAATGATAAGTGGTCATTACAGCATTGCCATATGCTCAATAAAGTCTGTGAAGCTTGTGTGCATGTTTTAAATAAGCAAATTTAATATATAGTATCTAATTGTTTGAATATAATGTTTTTGAATGTTCATTCTTAAAACATATATTTATCATACAATGTTAAAGTGTCAAGAAAAAGCCTAATATGTAAAAAGTTATTATTTTCTTAAATTTATGAATGATATGGTACTAGCATTAATTAATGTTTTAGACATATGGAACCATATTCAGCTGTAAAATATGAATATGAAGTTTAGCCCTCAAATTTAATGTCATCAGCCACTACCAAAGTATCATACATTTGAAAAATATAACTCCTGGCCCTCACATATTAGAGAAATTCAGTAGAATTTTCTAAGACATTTATTTCTAAGGAAAAATACTGGCCTCGTCAGTTGGATTGTTGGTTTGCTTTGGCTTCTGTGAACATACATATTGTTGTGTTGCTTACCGAGCACCTCCCTTCTAGTGTGACAGAAATACCCAGACAGTATTTTTTCAATGCTTTCCAGAAAAAAACTGGCATCATTCACTCACTACTCATGGCCCTTAAACTGAGACCTATAGGCAGAATTTTTTAAGTTCAAAAATTTAAACGACAATAATAAAACAAGAGTGAAATATAAAAGAGAAGATTTTTCACTCTTTTGTCTGCATTTTGACAATAAGAATTACAGAATAATGCACAAAATCAAATTCAGTGAGATTCATTTTTAAATAAAGTCATCCCAGTGTTTTCATATTTGCTAAGCTTGGAAAGAATCTGCCTTCAAAATTTACTCTACCCTCTGTTTCTAAAGTTCAGTATGAATCTTTCCATTGTTTGAAGGCAAACACTGGCTCAGACTACTAGGCAGATGGTTAAAACAGCCCAGGTTTTTTTACTTAGATCAGTATCAGAAAAATTCAAAATATTTTTAAACAAATATGAAAGAATCAAAAAGGCTTACATCATTGTAAGTATTCTCTTTTAAACAAAATACATTAAATCAAAAATAAACATTGCTTACTATTTTGCATCTGGACAAAGTACAAGATATTGAAATTACCTGTATGGGAAAATATTAAAGCGGACATAATTGTTACAGAATTCACTCTCACACTTTTTTATTTTTTACCAAGTACAGCACACTGTTGCATTATTCCATCTTCTAACTTCATGATGGTGACATTTCTGACCCAGCAGCTGAATTCATGTCCTTTTCCAAATCCTGCCAATGTCTTAGAAACAGTGAACTGAGCAATTTCAGAGTGAACCCCGCCCTTACAAAGCACATAAAGAATACCAAGAAGCTTGGTATCAAGCCTATGAAATACAAAATAAATGTGAAAAATAAATGCTGGCCAGCTCAACATTTGAATTTAGTTTTTGCAAATGCAAAATTTCCTCTAAAAATTTATGATTAGTACCTGGTAAACTATTTCATCAAATAGAAAAGCAGGAGACTTACAAACATTTCTCACACTTCTAACAGTAACAATTTCCTACTTATCATTGATAATATGTCAAAAGCTAAGGAAATCCAGAATGACATGGACCATGTAGAACAATAAGGTTGGAATAATTTCCCTTAGGGCCAAGCAGGAATAGAGAATAAAGTTCAGAAGGGCTGTACAAGGTCATTAGTTTTGTGTTTTCATACATATATATATATATATGAAAAATCTGTTTATATAAGAAGTAAATGTATATAAAGTTTGTAGTGAATAAAGTATTTTCAAGTTGTGGTAATTATATTGAATATGTTTAATGTATTTACACCCTTTGCATATGTGATAATGTGACAGATTTAATTTCTATTTTTTCTTTAAAAACATTAAAACTAATATTAAAAGTAAAA)$ MDMPGRELNEDRDSGIARSASLSSLLITPFPSPNSSLTRSCASSYQRRWRRSQTTSLENGVFPRw|lsk* 11CO077 ENSG00000118418.14 ENSG00000112320.12 -/- +/- chr6:79234546 chr6:107571729 CDS/splice-site intron duplication/5'-5' 1 2 0 171 4 high out-of-frame . HMG14_and_HMG17(100%)| . . ENSG00000118418.14 ENSG00000112320.12 ENST00000620514.1 . upstream downstream duplicates(1) ^(GGAGCAGCAGGGAGGCGAGCAGAGGGCCCCCAGAGGGAGCCGCGGAGGTGCAGGTCGAAGAGGCCGGGCTACGTCGTGCCCTGCGCGTGAGCAGCT)GCAGcGGCAGAGGCAGCATCCAGCGGCGGCGCCAGCAGTTCCAGTCCGTTGCTTTACTTTTTGCTTCACCGACATAGTCATTATGCCGAAGAGAAAG|GTTAAAATGAAAAATGACATCTTTGATGGAAAAGACTCCACGGAGACCCCGGTAGAAACGAGGCCTCTTCCTCTGCTCACAGACAGCTCTCTTCCCC MPKRK|vkmkndifdgkdstetpvetrplplltdsslp 11CO077 ENSG00000107099.15 ENSG00000256709.2(20202),ENSG00000202407.1(78542) +/+ ./- chr9:271729 chrX:106348026 CDS/splice-site intergenic translocation 1 1 0 13 6 high out-of-frame . . . . ENSG00000107099.15 . ENST00000432829.6 . downstream downstream . ^(GACAGACGAGGTTTGCGCTTGGCTGGGCATGTTCCGCGGCTACTCTGCGGCGCGCCAGGCCCCCGCTTTCCGCACCCCGCGACCCTAGAAGCCACCGAACCGCCGGCGGGCCATGGCCACTCTGCCGAGCGCAGAGCGCCGCGCGTTCGCGCTCAAGATCAACAG___)GTATTCTTCAGCGGAAATAAGGAAACAGTTTACTCTCCCACCAAACCTTGGCCAGTACCATCGACAGAGCATAAGTACCTCTGGCTTCCCCTCTCTTCAACTA|GGACTGCCAAGGCTTACTGCCCTAAATTGTGGATTGCATCCTCCTAGAATGCCCATGGACTCCACTTCCAGCTAGCCCTGACTCGGTAAGAGGGGGGCAAAGATTCTCCTAACATTCCCC MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQL|glprltalncglhpprmpmdstss* 11CO077 ENSG00000101216.11 ENSG00000064655.19 -/- +/+ chr20:63602965 chr20:47183291 CDS/splice-site CDS/splice-site inversion 1 1 0 31 18 high out-of-frame . |haloacid_dehalogenase-like_hydrolase(100%) . . ENSG00000101216.11 ENSG00000064655.19 ENST00000370077.2 ENST00000357410.7 upstream upstream . ^(ACTAGGAAGCGCGCGCCCGCGCCGCCGCCGCCGCCGAATCCCCAACAAGGAGCGAAGCCCGCGGCCGCCGCCGCCGCCCGCCGCCGCCGCAGCTCCCGACGCCGCCGCCCCCGCCGGGTGCCTAAGCAGGCCCGGCGCGGCCCCAG___GACTTGGGACCCTGGAGGACTGACGCTGCTGGCCTGGGCGTCCCCTTCCGCTGAGCCATGGCGACTCCCGACGTGAGTGTGCACATGGAGGAGGTGGTGGTTGTGACAACTCCGGACACTGCAGTGGACGGCAGTGGTGTGGAGGGGGTGAAGACCGTGTTGGTGACGACCAACTTGGCCCCTCACGG___GGGCGACCTGACGGAAGATAACATGGAGACAGAAAATGCAGCGGCAGCAGCTGCCGCGGCCTTCACAGCCTCCTCCCAGCTCAAGGAAGCCGTGTTAG___TGAAGATGGCTGAAGAGGGGGA)GAACCTGGAAGCTGAGATTGTGTACCCCATCACCTGTGGAGACAGCAGAGCCAACCTCATCTGGAGGAAGTTTGTGTGTCCCGGCATCAATGTGAAATGTGTTCAG|GGAAGGAGAGCTGCTTCGAGAGGATAATGCAGAGATTCGGCAGAAAAGCTGTCTACGTGGTGATCGGTGATGGTGTGGAAGAGGAGCAAGG(AGCGAAAAAG___CACAACATGCCTTTCTGGCGGATATCCTGCCACGCAGACCTGGAGGCACTGAGGCACGCCCTGGAGCTGGAGTATTTATAGCAGGATCAGCAGCATCTCCACCTGCCATCTCACCCTCAGACCCCCTCGCCTTCCCCACCTCCCCACCGAGAACTCCAGAGACCCAGATGTTGGACACCAGGAAGGGGCCCCACAGCCGAGACGACGTGTCCAGTGACCATCTCAGAAGCCGTCCATCAGTCCAAATGGGGGTTCTGAGAAGGAAAGTACCCAACATTGGCTTCGGAGTATTTGACTTTGGGGAAAAGGGCTGGCTCGGAGTCTAGACTCTTCTGTAAGACTCACAGAACAAAAGCAAGGAATTGCTGATTTGGGGGGTGCCTGGTGATGAGGAGGGGATGGGTTTGTCTTGTCTTCTTTTTAATTTATGGACTAGTCTCATTACTCCGGAATTATGCTCTTGTACCTGTGTGGCTGGGTTTCTTAGTCGTTGGTTTGGTTTGGTTTTTTGAACTGGTATGTGGGGTGGTTCACAGTTCTAATGTAAGCACTCTATTCTCCAAGTTGTGCTTTGTGGGGACAATCATTCTTTGAACATTAGAGAGGAAGGCAGTTCAAGCTGTTGAAAAGACTATTGCTTATTTTTGTTTTTAAAGACCTACTTGACGTCATGTGGACAGTGCACGTGCCTTACGCTACATCTTGTTTTCTAGGAAGAGGGGGATGCTGGGAAGGAATGGGTGCTTTGTGATGGATAAAAGGCATTAAATAAAACCACGTTTACATTTTGAA)$ MATPDVSVHMEEVVVVTTPDTAVDGSGVEGVKTVLVTTNLAPHGGDLTEDNMETENAAAAAAAAFTASSQLKEAVLVKMAEEGENLEAEIVYPITCGDSRANLIWRKFVCPGINVKCVQ|grraasrg* 11CO077 ENSG00000079459.13 ENSG00000220773.1(30189),ENSG00000220635.2(114906) +/+ ./- chr8:11809850 chr6:54655677 CDS/splice-site intergenic translocation 4 0 0 668 7 medium out-of-frame . Squalene/phytoene_synthase(100%)| . . ENSG00000079459.13 . ENST00000538689.4 . downstream downstream duplicates(2) ^(AAAAACGGTGGCAACACGCTGGGTTTGCTTTACAACGCTTGGGAAGCTTTGTTGTTTGCAATAAATTTTAATACTTGTCTGTTTCGGTCTGCACTGCCTTTATGAGCTGTAACACTCACAGGGTAGGTTTGCAGCTTCACTCCTGAAGCCAGTAAGACAACGAACCCACTGGGAGAAACAAACAACTCCAGACGCGCCGACTTAAGAGCTGTAATACTCGCTGTGACGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCACGAACCCACCAGAAGGAAGAAACTCCGAACACATCTGAACATCAGAAGGAACAGACTCCGGACACGCCGCCTTTAAGAACTGTAACACTCACCGCGAGGGTGGGCGGTTTCATTCCTGAAGTCAGTGAGACCAAGAACCAACCAATTCCGGACACACTTGGACTCGACAGACTCTAAG___GACTCGCTCAGCAGCAGCCTGAAAACTTGCTACAAGTATCTCAATCAGACCAGTCGCAGTTTCGCAGCTGTTATCCAGGCGCTGGATGGGGAAATGCG___CAA)CGCAGTGTGCATATTTTATCTGGTTCTCCGAGCTCTGGACACACTGGAAGATGACATGACCATCAGTGTGGAAAAGAAGGTCCCGCTGTTACACAACTTTCACTCTTTCCTTTACCAACCAGACTGGCGGTTCATGGAGAGCAAGGAGAAGGATCGCCAGGTGCTGGAGGACTTCCCAACG|ACGCTGGGAACACAGTTGAGAGCAAAGCAGAAGCACCGACCTTGATAGAGTCTCCATGAGGGTTTGATACAC MRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPT|tlgtqlrakqkhrp* 11CO079 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 24 22 1 66 60 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),low_entropy(1),mismatches(1) GTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11CO079 ENSG00000233184.7 ENSG00000185104.20 +/+ -/- chr1:101026061 chr1:50857997 exon/splice-site CDS/splice-site inversion 17 16 0 36 69 high . . |UBA-like_domain(100%),UBX_domain(100%) . . ENSG00000233184.7 ENSG00000185104.20 ENST00000664684.1 ENST00000396153.7 downstream downstream duplicates(1) ^AGCGGGCTACTGGGCTGCGGAGACCAGAGCCCGGCTCCACTGAAGAAACCCGCCGGCTGCTGGGGCAGGGCGGCGAAAGGTCAGTCGGCCGAGAGGAGTCCGTGGAGCCACCGTTTCATAGCCTCAGGGAAAGGATCGGGCGTGCTCACGAGCCCTCTAACCCATGGCTTAAACACCCGCTTCCTAAGCCTGG|GCATGTACTGGCATTGAAAACATTGACGAAGCTATTACATTGCTTGAACAAAATAATTGGGACTTAGTG___GCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAG___TGAATATGGAGGTGAGACCATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCTTCAGCGTTTCGACCTGTAATGCCATCCAGGC(AGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCTGTACTGTTG___GAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTGTTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGT___ACGGTCCTAAAATCTCTACACTTGCCAAAAAACAACAGTCTTTATGTCCTTACACCAGATTTGCCACCACCTTCATCATCTAGTCATGCTGG___TGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCACCGAGAAGTCCAGCGGGAGTACAACCTGAACTTCTCAGGAAGCAGTACTATTCAAGAG___GTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCA___ATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAA___CAAATCACCGATGTTCATATGGTTAGTGATAGCGATGGAGATGACTTTGAAGATGCTACAGAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCTGCCTTGAGAAAATCTCCAATGA___TGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGAGTTTTCTTCAAG___ATATGGTGATTGCCATCCTGTATTTTTTATTGGCTCATTAGAAGCTGCTTTTCAAGAGGCCTTCTATGTGAAAGCCCGAGAT___AGAAAGCTTCTTGCTATCTACCTCCACCATGATGAAAGTGTGTTAACCAACGTGTTCTGCTCACAAATGCTTTGTGCTGAATCCATTGTTTCTTATCTGAGTCAAAATTTTATAACCTGGGCTTGGGATCTGACAAAGGACTCCAACAGAGCAAG___ATTTCTCACTATGTGCAATAGACACTTTGGCAGTGTTGTGGCACAAACCATTCGGACTCAAAAAACGGATCAGTTTCCGCTTTTCCTGATTATTATGGGAAAGCGATCATCTAATGAAGTGTTGAATGTGATACAAG___GGAACACAACAGTAGATGAGTTAATGATGAGACTCATGGCTGCAATGGAGATCTTCACAGCCCAACAACAGGAAGATATAAAGGACGAG___GATGAACGTGAAGCCAGAGAAAATGTGAAGAGAGAGCAAGATGAGGCCTATCGCCTTTCACTTGAGGCTGACAGAGCAAAG___AGGGAAGCTCACGAGAGAGAGATGGCAGAACAGTTTCGTTTGGAGCAGATTCGCAAAGAACAAGAAGAGGAACGTGAG___GCCATCCGGCTGTCCTTAGAGCAAGCCCTGCCTCCTGAGCCAAAGGAAGAAAATGCTGAGCCTGTGAGCAAACTGCGGATCCGGACCCCCAGTGGCGAGTTCTTGGAGCGGCGTTTCCTGGCCAGCAACAAGCTCCAGATTGTCTTTGATTTTGTAGCTTCCAAAGGATTTCCATGGGATGAGTACAAGTTACTGAGCACCTTTCCTAGGAGAGAC___GTAACTCAACTGGACCCAAATAAATCATTATTGGAGGTAAAGTTGTTCCCTCAAGAAACCCTTTTCCTTGAAGCAAAAGAGTAAACACGGCCCAGCGGTGGAACCAGCCATTCCTTGACAAGCCAGCAGCCTGCGTCAGGAGAAGGGCTCCTCGCCAACCCACCCACACGCTCGTCTCACTCAATTCAATGTCACACTTCTGCCTCTTGCAAAATTGCTGGAAAAAGTAATAATAAATATAGCTACTTAAGATTTCCCATCCATGAGTATATATTCCCAACCCTTATTACAGAGAATTACAACTCTGCCACCCTCCCCTACCCCCTGCACTTCACCCTCCTTCAATGACGAATGCATTGTTCAAGTGTGAGTGATCACTAAATAGAATTTTTACCTCTCCAGTGCCCATCTTTTCCCCACAGTGTCTAGGACAGTTCTGTCTGTTCTGTGACACCAGGATGCTGTATATTTGATATATGTCTTTTTATTTTCATGACTGAATTTCTACTTCATCACCTAATTTTAAGGGGCAGAGGGAAAAAAAGTCAAATGAGACATTGTCGGCATGGAGATTAAACATTGTAGGAAAAAAGTATACCATTTTTGTTAGAACTTTCTGATGGCTTTACTAAGATGTCAGGTTTTGTTTGAGGACTGAATTTGACATATATGCAAGATATTTATTTACTGCTGCTGCCTTGGGTCTCCAGGTTCTACCTAGGAGGTATTTGCTGTTCCATTGCAGCATAGGGAAACTGTTCAAGCACACAATGTGAATGTTGAGATCATGTGCAGAGAGGCCAGTACCAAAACTTCAGTATCTGGCCCAATGGCAAGAGGCTACTGTTAGGTTTGCATTTGGGCAGTTAGAACCTCACAGATACCAGCTCCCAAGTTGCTAGTCCATCAGTGTAAACTGAACACAATTCTCTCTTGCTTTCTCTCTCTCTACTCCCTCACACATTTGGACCTTGTCACTTGGTGTTTAAGCACCTTGCCTATCAACAAAATCTGATGAGCAGCCCCATGGACTCTCCTGTAATAAGGAACTTGCTCTACTATTTTATTCTTTTAATGTTTTAGTATTTGATATTGGACTCAAATGAAAGGGATCTCATTCTGTGGCTGAAAAATCAGACTTCATATGTTGAAGAGAGCAAACTTGGGGACTCAACTCAGAAGACATGTGTTGCCTGAAACCTGCATATAATAATTTTTGATTTGATTTAGTAAGTGTGGATTTTTCTTAATCTACAGATTTGGGGTTTGGGGTTTAGATCATGAGAACACCGTTTATACCTTCACAGCCAATGATTTATTTTTAGTCTTGAAATATTTCTCCATATCTGTTTTTGTGTCACCTGTGGGTTTTATCCTAGGGGTTGGGATCCTGATTTTAACATTTTGTACTTGTCCAAAAAAGAGTTCAAATGCTGGGTTTGTTCCCCCAGCCTCGGCCAAGGGGTTCTCAGAAGATTCTAACCAAAGCTGGAGATAGGTCTGCTCATTTTCCTTCTGCCCAGAAGTGGATGTTGGCCAGGAAAATTACACCTTGTGTCTTCTCTGATGCTCCAACCAGGGACCTCTCCAGATTACTATCTAGCACAGACTAGTGCTACATCTGCCTAGGTATGGGCTTTCTCTGGCAGCAGGGGTCTCTCTAGGGAGGCTGAGAGACCCATGGGTCTCCCTTCAGGGGAAGTGTTCAGGGGAGTTCAAACTGAACACTTCTCTCCAGCTCTATTCCTATCTTCCTAATCTAATGGCTCTACAAGATAGTCATTTCCAGTGCTACAGATGCACCAGGGCACCACCTCTTTTTTTTTCTAGGTAGACCTTGTTCTGTAGCTGCTGTGAAGAAGCTGCAGCCCTGAACTCAGGTCATACTCAGGAACAGCAGCAGGGGTGTGGGTGGGGTTTGAGGGAAGGTACTCTGAATTCACCTTCATGTTTAACCTGTTCCATCTGACTTGGGTTTCTTCATTATATTGTTCCCTCCCACTCACCTTCACTTCTGTATTACAACAATATAGACTTTACTCTAAAGCCAATTTCATGGAAGTTATTAAATGCTACTTGAATGTGTGTGAAGTTGATACAACCTTTTTCAACCTGCCTTAGAAAGTTCTTTTGGCCTACTCAGCCCCATGATTTCCTATGCTCTAGGCCTCATAACTGGGAAAGGCCTCAGCTAATTGTCACTGTTCACTCAGGACATGATGGTCTACTAAGCTTCAGACAAAAGGCCAAAGCAATTTTATCCTTTTCATACAAGCAGAGCATTAAAATGACTTCCCATCACCACAGAAATAGCAGTGTCCTCTGCAGTTCTTCCTCCTACCATTAGGCTTCCTTGGGCTTTACATCCCAGCCTCCAGGCCCAGTAAGTGAGTCAGTCTGAATATTTGCTTGGCATTCTTATGCCCAACTGTTGACAGTGAAGCTCCAGGACTCTTTGTCATCCCCCATTCCAGTTTACTCCCTTGTGTTCTTGGACTGCTGGATGTGCAGTTGCAGCATTAGTTTGAAAGTTAAAGGAAGTGTTGCCAATTTCCCATTGCCTTTAAGAAGGTGCAGGGATTTTTTTGGAGGTTTCTGATTTCGGATGTTGCCATTCTCTGGCACTACTAGTTTTATAGCACACACAGATGTTCATCTCTGGATTGTAAGCATCCAGAATCAAAGATGAATGAGAGCATCTTTTATGGAATCTACCTTTTTAACATAAGAGAGTAAGATTTATGCTTTTATAGATTTTACTTGCTGCTGACATTAGAAACATATTAGTCACATAATAACATCTAAGTGTGCTGGTCAGTAGAATAGGTTTTTAAGAGGTGGAGAGCTCTGGCAAATTTCCCCCAAAGTATAGACTTTTTCATTTGAATGTGGGAGAGGGTCTTAATTCTCTCCACAACAGCATCACTGATTGACACATTTCTACCCATCCTTTTCTGTCCCTTAGCCATCCAGTCCTGGGTCCCCACAAGTGGATGGGACTTGGAGTCTTTAGTTCAGTCCAGGAGTAACTCATATAGGCATTGCACATTATAGTCTGTGTAACCCTTTCACCTGTATTTTCTCTTTTGATCCTTTTTAAAATTCTTAGAGGAAGAGAGATCTTCACATACATATAACCACAGCCACATACACACACATTCCAGAGACTTCAGTGTCTTCCAAGTTGAACCTCTCTTCTGCCACTTAGTAGCTGCGTGACCTTAAGGTAAGTAACCTCTCTGAACCTCAGTGTCCTTACAACATTCTGATAGCACTTTGCAATTGGACACACCTTTCACACATCATAATAGTCTCCCGCTATGAGGGAAGCAGGGCAGAGATGATGATTCCATTTTTGCACAAGGGGCTTAGAGGATAGTGGCTTGCCTAAAATCACACAGCATGTCAGTAGAAGGGTCAGGACTTAAAGTGCTAACTCTAATTTTCCACTGCTTGTCTACAAAGAATCTCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCTCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCATCTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAACTCCTGACCTCAGGTAATCGGCCCACCTCAGCCTCCCAAAGTGCCAGGGTTACAGGCGTGAGCCACGGCGCCCGGCCAAGAATCTCTAAATTTTATATTCAAGAACGGATCTTGGAATCCTCTACAGTTGTACATAAAAAGTTAAACATCACTTTGGGAGGCAAAGGCAGGAGGATTGCTTGAGGCCAGAAGTTCAAGACCAGCCCTGACCACATACCAAGACCCTGTCTCTAAAAAAATAAATAAATAAAAAATAAAACTTTTCATTAGCCAGGCATGCTGGTACTTGCCTGTAGTCCCAGCTACTGTTGAGGCTGAGGCAAAGTGATCACTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCCATGATAGTGCGACTGCTACTCTGGCCTAGGCATCAGAGTAAGACCTCATCTCTTTAAAAAAAAAAAAAAAAGAAAGGTTAAACATGTATTTTCCTGGAAAGGGAATCTGTATTCATCAGATTCTCAGTGGGACCTATTGATCAAAAAATTTTAAGAATCACCATTTACGTCATCCTATTTGGGGAGAAGAATCTGTCCATTCTTTTTATCAATCCGTATTTTTATCTAAAAGAAACCTCCAGAGGATGAAATACAATCACTAGACTTTCTTGCCTTGAATATCTCTGCATTTAGTATTTTGTCCTTGTCTCAAATAATCTGCTTTGGAAGGTGACACTTAACCCCAACTGGCCACACAGCTCCTCACTGTTGCATTTTGAAAGTTTGGTCTGAAAGAAAATATTAATAAAAGAGACATGATCTCCA)$ . 11CO079 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 8 25 0 54 155 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4),mismappers(1) GGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGC?GC?GC?GCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGT(TCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11CO079 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 3 10 0 21 40 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream . GACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCC(TGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 11CO079 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 9 0 30 34 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1),mismatches(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACC(TGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11CO079 ENSG00000172380.6 ENSG00000117859.19 -/- +/+ chr1:67777458 chr1:51669434 5'UTR/splice-site CDS/splice-site inversion 5 8 0 225 65 high . . |Oxysterol-binding_protein_(100%),PH_domain(100%) . . ENSG00000172380.6 ENSG00000117859.19 ENST00000370982.4 ENST00000371714.5 upstream upstream duplicates(1) ^(AGCGAGGCGGAGCCGGCGC)CCGGAGGAGCAAGAGGAGGAGGAGGAGGAGAGGTCGGAGCCGTCTCCAGGAGCCCTTAGAGACCGAGTCCCGGCGGCGACGGCGGGGCAGCGCACCGGCAGGCGG___ATTCATTCCACTTAAAACCTGAAAACATTGGACCACACAAAGTCTTACTG|GGAGCTGTGATTGGTATAGACGATGAGGACGACAGCACCTTCACAATAACTGTTGATCAGAAAACCTTCCATTTCCAGG___CCCGTGATGCTGATGAGCGAGAGAAGTGGATCCATGCCTTAGAAGAAACAATTCTTCGACATACTCTCCAGCTTCAA___GGTTTGGATTCAGGATTTGTTCCTAGTGTCCAAGATTTTGATAAGAAACTTACAGAAGCTGATG(CTTACCTACAAATCTTGATTGAACAATTAAAG___CTTTTTGATGACAAGCTTCAAAACTGCAAAGAAGATGAACAGAGAAAG___AAAATTGAAACTCTCAAAGAGACAACAAAT___AGCATGGTAGAATCAATTAAACACTGCATTGTGTTGCTGCAGATTGCCAAA___AGTACTATTAATCCCGTAGATGCAATATATCAACCTAGTCCTTTGGAACCTGTGATCAGCACAATGCCTTCCCAGACTGTGTTACCTCCAG___AACCTGTTCAGTTGTGTAAGTCAGAGCAGCGTCCATCTTCCCTACCAGTTGGACCTGTGTTGGCTACCTTGGGACATCATCAGACTCCTACACCAAATAGTACAG___GCAGTGGCCATTCACCACCGAGTAGCAGTCTCACTTCTCCAAGCCACGTGAACTTGTCTCCAAATACAGTCCCAGAGTTCTCTTACTCCAGCAGTGAAGATGAATTTTATGATGCTGATGAATTCCATCAAAGTGGCTCATCCCCAAAGCGCTTAATAGA___TTCTTCTGGATCTGCCTCAGTCCTGACACACAGCAGCTCGGGAAATAGTCTAAAACGCCCAGATACCACAGAATCACTTAATTCTTCCTTGTCCAATGGAACAAGTGATGCTG___ACCTGTTTGATTCACATGATGACAGAGATGATGATGCGGAGGCAGGGTCTGTGGAGGAGCACAAGAGCGTTATCATGCATCTCTTGTCGCAGGTTAGACTTGGAATGGATCTTACTAAG___GTAGTTCTTCCAACGTTTATTCTTGAAAGAAGATCTCTTTTAGAAATGTATGCAGACTTTTTTGCACATCCGGACCTGTTTGTGAG___CATTAGTGACCAGAAGGATCCCAAGGATCGAATGGTTCAGGTTGTGAAATGGTACCTCTCAGCCTTTCATGCGGGAAGGAAAGGATCAGTTGCCAAAAAGCCATACAATCCCATTTTGGGCGAGATTTTTCAGTGTCATTGGACATTACCAAATGATACTGAAGAGAACACA___GAACTAGTTTCAGAAGGACCAGTTCCCTGGGTTTCCAAAAACAGTGTAACATTTGTGGCTGAGCAGGTTTCCCATCATCCACCCA___TTTCAGCCTTTTATGCTGAGTGTTTTAACAAGAAGATACAATTCAATGCTCATATCTGGACCAAATCAAAATTCCTTGGGATGTCAATTGGGGTGCACAACATAGGGCAGG___GCTGTGTCTCATGTCTAGACTATGATGAACATTACATTCTCACATTCCCCAATGGCTATGGAAG___GTCTATCCTCACAGTGCCCTGGGTGGAATTAGGAGGAGAATGCAATATTAATTGTTCCAAAACAGGCTATAGTGCAAATATCATCTTCCACACTAAACCCTTCTATGGGGGCAAGAAGCACAGAATTACTGCCGAGATTTT___TTCTCCAAATGACAAGAAGTCTTTTTGCTCAATTGAAGGGGAATGGAATGGTGTGATGTATGCAAAATATGCAACAGGG___GAAAATACAGTCTTTGTAGATACCAAGAAGTTGCCTATAATCAAGAAGAAAGTGAGGAAGTTGGAAGATCAGAACGAGTATGAATCCCGCAG___CCTTTGGAAGGATGTCACTTTCAACTTAAAAATCAGAGACATTGATGCAGCAACTGAAGCAAAGCACAGGCTTGAAGAAAGACAAAGAGCAGAAGCCCGAGAAAGGAAGGAGAAGGAAATTCAGTGGGAGACAAGG___TTATTTCATGAAGATGGAGAATGCTGGGTTTATGATGAACCATTACTGAAACGTCTTGGTGCTGCCAAGCATTAGGTTGGAAGATGCAAAGTTTATACCTGATGATCAGGGCAGTAGGCATAATTCAGCAACAAACAATCTTCCTTTGGGAGAAACCTGTTCATTCCAATCTTCTAATTACAGTGGTTCCTATCTCAGGGATACTGGACTTTCTGACGCAGATGAACAATTAAGGGGAAAAGCTTCCCTTTTCCCTCTGTGGCAGTTACGATTTTGACTTCAGTCCTGAGAAAAACTTCAGGTTTTGAAAATCAGATGATGTCTTCTCCTTTTCCAAACACCACACGTTGAAAGCATTTATAAATCCAAGTCTGAAACTCTGCGCTCTAGTACTGCTGTTAAGATACACAACTTGTTTCTTAGTTCATATAATCTCGGGATACACACACACACACACATATATATACACACACATACGTATACACACACATACATATATATAAATATACCTGATGCCAGATTTTTTTCATAAATATTCTGCCTACTGTAAATATGGGTTCCTCTGAGTTGTTTTAGAAAATTAGCGCAATGTATTAAAATCAAGTGTTAGGAAATTTCATGGTCTTACCTACAATAACTTTTATTTTGGAATTGAACTATTATTAAATTGTATCTAATCCTGGATTACAGTTTAATTAATTATTCTTAGTGCTTAAGGCTTCATAAAGTAATTTTTCCAACCTTTTTTTTAAAAA)$ . 11CO079 ENSG00000172380.6 ENSG00000117859.19 -/- +/+ chr1:67777458 chr1:51714003 5'UTR/splice-site CDS/splice-site inversion 1 3 0 225 79 high . . |Oxysterol-binding_protein_(100%),PH_domain(100%) . . ENSG00000172380.6 ENSG00000117859.19 ENST00000370982.4 ENST00000371714.5 upstream upstream . ^(AGCGAGGCGGAGCCGGCGCCCGGAGGAGCAAGAGGAGGAGGAGGAGGAGAGGTCGGAGCCGTCTCCAGGAGCCCTTAGAGA)CCGAGTCCCGGCGGCGACGGCGGGGCAGCGCACCGGCAGGCGG___ATTCATTCCACTTAAAACCTGAAAACATTGGACCACACAAAGTCTTACTG|CCCGTGATGCTGATGAGCGAGAGAAGTGGATCCATGCCTTAGAAGAAACAATTCTTCGACATACTCTCCAGCTTCAA___GGTTTGGATTCAGGATTTGTTCCTAGTGTCCAAGATTTTGATAAGAAACTTACAGAAGCTGATGCTTACCTACAAATCTTGATTGAACAATTAAAG___CTTTTTGATGACAAGCTTCAAAACTGC(AAAGAAGATGAACAGAGAAAG___AAAATTGAAACTCTCAAAGAGACAACAAAT___AGCATGGTAGAATCAATTAAACACTGCATTGTGTTGCTGCAGATTGCCAAA___AGTACTATTAATCCCGTAGATGCAATATATCAACCTAGTCCTTTGGAACCTGTGATCAGCACAATGCCTTCCCAGACTGTGTTACCTCCAG___AACCTGTTCAGTTGTGTAAGTCAGAGCAGCGTCCATCTTCCCTACCAGTTGGACCTGTGTTGGCTACCTTGGGACATCATCAGACTCCTACACCAAATAGTACAG___GCAGTGGCCATTCACCACCGAGTAGCAGTCTCACTTCTCCAAGCCACGTGAACTTGTCTCCAAATACAGTCCCAGAGTTCTCTTACTCCAGCAGTGAAGATGAATTTTATGATGCTGATGAATTCCATCAAAGTGGCTCATCCCCAAAGCGCTTAATAGA___TTCTTCTGGATCTGCCTCAGTCCTGACACACAGCAGCTCGGGAAATAGTCTAAAACGCCCAGATACCACAGAATCACTTAATTCTTCCTTGTCCAATGGAACAAGTGATGCTG___ACCTGTTTGATTCACATGATGACAGAGATGATGATGCGGAGGCAGGGTCTGTGGAGGAGCACAAGAGCGTTATCATGCATCTCTTGTCGCAGGTTAGACTTGGAATGGATCTTACTAAG___GTAGTTCTTCCAACGTTTATTCTTGAAAGAAGATCTCTTTTAGAAATGTATGCAGACTTTTTTGCACATCCGGACCTGTTTGTGAG___CATTAGTGACCAGAAGGATCCCAAGGATCGAATGGTTCAGGTTGTGAAATGGTACCTCTCAGCCTTTCATGCGGGAAGGAAAGGATCAGTTGCCAAAAAGCCATACAATCCCATTTTGGGCGAGATTTTTCAGTGTCATTGGACATTACCAAATGATACTGAAGAGAACACA___GAACTAGTTTCAGAAGGACCAGTTCCCTGGGTTTCCAAAAACAGTGTAACATTTGTGGCTGAGCAGGTTTCCCATCATCCACCCA___TTTCAGCCTTTTATGCTGAGTGTTTTAACAAGAAGATACAATTCAATGCTCATATCTGGACCAAATCAAAATTCCTTGGGATGTCAATTGGGGTGCACAACATAGGGCAGG___GCTGTGTCTCATGTCTAGACTATGATGAACATTACATTCTCACATTCCCCAATGGCTATGGAAG___GTCTATCCTCACAGTGCCCTGGGTGGAATTAGGAGGAGAATGCAATATTAATTGTTCCAAAACAGGCTATAGTGCAAATATCATCTTCCACACTAAACCCTTCTATGGGGGCAAGAAGCACAGAATTACTGCCGAGATTTT___TTCTCCAAATGACAAGAAGTCTTTTTGCTCAATTGAAGGGGAATGGAATGGTGTGATGTATGCAAAATATGCAACAGGG___GAAAATACAGTCTTTGTAGATACCAAGAAGTTGCCTATAATCAAGAAGAAAGTGAGGAAGTTGGAAGATCAGAACGAGTATGAATCCCGCAG___CCTTTGGAAGGATGTCACTTTCAACTTAAAAATCAGAGACATTGATGCAGCAACTGAAGCAAAGCACAGGCTTGAAGAAAGACAAAGAGCAGAAGCCCGAGAAAGGAAGGAGAAGGAAATTCAGTGGGAGACAAGG___TTATTTCATGAAGATGGAGAATGCTGGGTTTATGATGAACCATTACTGAAACGTCTTGGTGCTGCCAAGCATTAGGTTGGAAGATGCAAAGTTTATACCTGATGATCAGGGCAGTAGGCATAATTCAGCAACAAACAATCTTCCTTTGGGAGAAACCTGTTCATTCCAATCTTCTAATTACAGTGGTTCCTATCTCAGGGATACTGGACTTTCTGACGCAGATGAACAATTAAGGGGAAAAGCTTCCCTTTTCCCTCTGTGGCAGTTACGATTTTGACTTCAGTCCTGAGAAAAACTTCAGGTTTTGAAAATCAGATGATGTCTTCTCCTTTTCCAAACACCACACGTTGAAAGCATTTATAAATCCAAGTCTGAAACTCTGCGCTCTAGTACTGCTGTTAAGATACACAACTTGTTTCTTAGTTCATATAATCTCGGGATACACACACACACACACATATATATACACACACATACGTATACACACACATACATATATATAAATATACCTGATGCCAGATTTTTTTCATAAATATTCTGCCTACTGTAAATATGGGTTCCTCTGAGTTGTTTTAGAAAATTAGCGCAATGTATTAAAATCAAGTGTTAGGAAATTTCATGGTCTTACCTACAATAACTTTTATTTTGGAATTGAACTATTATTAAATTGTATCTAATCCTGGATTACAGTTTAATTAATTATTCTTAGTGCTTAAGGCTTCATAAAGTAATTTTTCCAACCTTTTTTTTAAAAA)$ . 11CO079 ENSG00000122435.10 ENSG00000235215.2 +/+ -/- chr1:100133315 chr1:59059682 CDS/splice-site exon/splice-site inversion 8 3 0 48 8 high out-of-frame . CCCH_zinc_finger_in_TRM13_protein(100%)| . . ENSG00000122435.10 ENSG00000235215.2 ENST00000370143.5 ENST00000451090.1 downstream downstream duplicates(1) ^GGAAGCGAGCCCTAGAATTATGGCGACCTCCGCGACGTCGCCGCACGCGCCTGGTTTTCCAGCTGAGGGTAGATGCGGTTACTATGTGGAAAAGAAGAAACGGTTCTGCAGGATGGTGGTGGCCGCAGGGAAAAGATTTTGTGGTGAACACGCTGGAGCCatGGAG|GATATGAACAGAAGCAGGCAGAGGATGAAGCTGATGGTGTGCATG___GTCACTGTGCTCCTGCCCATTTTTGAGCTTCTGGAATACAAGCTGTGCCTTTGCCTGGAATGTCCCTCCCAGTCTGAC(TAGGCATCTTCTGATGGGGTTTGACCTGGTTGCTTCTAACACTAGGATGGACCTCTTGGCAATCTCTGGATATCTTTCTGTGGTTTGTTATAATGGTAATTATTACTTA)$ MATSATSPHAPGFPAEGRCGYYVEKKKRFCRMVVAAGKRFCGEHAGAmE|dmnrsrqrmklmvcmvtvllpifelleyklclclecpsqsd* 11CO079 ENSG00000040341.18 ENSG00000104321.11 -/- -/- chr8:73552012 chr8:72063571 CDS/splice-site CDS/splice-site deletion 6 1 0 53 30 high in-frame . Double-stranded_RNA_binding_motif(100%),Staufen_C-terminal_domain(98%)|Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ion_transport_protein(100%) . . ENSG00000040341.18 ENSG00000104321.11 ENST00000524300.6 ENST00000262209.5 upstream downstream duplicates(1) ^(AGTTCTCTGTAGTGTTTGCCAATGTTGGAGCCGTCTGCAAAGTGTCCCCGGCAAGAAG___AGGCTGCCTACCACAAGGACTTTAGCTTACTTTTTAAAGATTGAAGAAAAAAAAGAAGACAGAAAAAGAAGAACTCAAAGATACACAAAGTAATTTGAACCAAGGCTCAGAAG___TTTTTGGAGCCGTGAGGGATACAGCAGTTTGGTCAATATTGTCTTAACATGCTTCAAATAAATCAG___CTTCTCTCCAAGATAAAATGGCAAACCCAAAAGAGAAAACTGCAATGTGTCTGGTAAATGAGTTAGCCCGTTTCAATAGAGTCCAACCCCAGTATAAACTTCTGAATGAAAGAGGGCCTGCTCATTCAAAG___ATGTTCTCAGTGCAGCTGAGTCTTGGTGAGCAGACATGGGAATCCGAAGGCAGCAGTATAAAGAAGGCTCAGCAGGCTGTTGCCAATAAAGCTTTGACTGAATCTACGCTTCCCAAACCAGTTCAGAAGCCACCCAAAAGTAATGTTAACAATAACCCAG___GCAGTATAACTCCAACTGTGGAACTGAATGGGCTTGCTATGAAAAGGGGAGAGCCTGCCATCTACAGGCCATTAGATCCAAAGCCATTCCCAAATTATAGAGCTAATTACAACTTTCGGGGCATGTACAATCAGAG___GTATCATTGCCCAGTGCCTAAGATCTTTTATGTTCAGCTCACTGTAGGAAATAATGAATTTTTTGGGGAAGGAAAGACTCGACAAGCTGCTAGACACAATGCTGCAATGAAAGCCCTCCAAGCACTGCAGAATGAACCTATTCCAGAAAGATCTCCTCAG___AATGGTGAATCAGGAAAGGATGTGGATGATGACAAAGATGCAAATAAGTCTGAGATCAGCTTAGTGTTTGAAATTGCTCTGAAGCGAAATATGCCTGTCAGTTTTGAG___GTTATTAAAGAAAGTGGACCACCACATATGAAAAGCTTTGTTACTCGAGTGTCAGTAGGAGAGTTCTCTGCAGAAGGAGAAGGAAATAGCAAAAAACTCTCCAAGAAGCGCGCTGCGACCACCGTCTTACAGGAGCTTAAAAAACTTCCACCTCTTCCTGTGGTGGAAAAGCCAAAACTATTTTTTAAAAAACGCCCTAAAACAATAGTAAAG___GCCGGACCAGAATATGGCCAAGGGATGAACCCTATTAGCCGCCTGGCGCAAATTCAACAGGCCAAAAAGGAAAAGGAGCCGGATTATGTTTTGCTTTCAGAAAGAGGAATGCCTCGACGTCGAGAATTTGTGATGCAG___GTGAAGGTAGGCAATGAAGTTGCTACAGGAACAGGACCTAATAAAAAGATAGCCAAAAAAAATGCTGCAGAAGCAATGCTGTTACAACTTGGTTATAAAGCATCCACTAATCTTCAGGATCAACTTGAGAAG___ACAGGGGAAAACAAAGGATGGAGTGGTCCAAAGCCTGGGTTTCCTGAACCAACAAATAATA___CTCCAAAAGGAATTCTTCATTTGTCTCCTGATGTTTATCAAGAGATGGAAGCCAGCCGCCACAAA)GTAATCTCTGGCACTACTCTAGGCTATTTGTCACCCAAAGATATGAACCAACCTTCAAGCTCTTTCTTCAGTATATCTCCCACATCGAATAGTTCAGCTACAATTGCCAGGGAACTCCTTATGAATGGAACATCTTCTACAGCTGAAGCCATAGGTTTAAAAGGAAGTTCTCCTACTCCCCCTTGTTCTCCAGTACAACCTTCAAAACAACTGGAATATTTAGCAAGGATTCAAGGCTTTCAG|CTTAAAAAAGGAGCTAAGCCATGTAAATCAAATAAATGGGGATGTTTCCCTATTCACCAAGCTGCATTTTCAGGTTCCAAAGAATGCATGGAAATAATACTAAGGTTTG___GTGAAGAGCATGGGTACAGTAGACAGTTGCACATTAACTTTATGAAT(AATGGGAAAGCCACCCCTCTCCACCTGGCTGTGCAAAATGGTGACTTGGAAATGATCAAAATGTGCCTGGACAATGGTGCACAAATAGACCCAGTGGAG___AAGGGAAGGTGCACAGCCATTCATTTTGCTGCCACCCAGGGAGCCACTGAGATTGTTAAACTGATGATATCGTCCTATTCTGGTAGCGTGGATATTGTTAACACAACCGATGGATGTCATGAGACCATGCTTCACAG___AGCTTCATTGTTTGATCACCATGAGCTAGCAGACTATTTAATTTCAGTG___GGAGCAGATATTAATAAGATCGATTCTGAAGGACGCTCTCCACTTATATTAGCAACTGCTTCTGCATCTTGGAATATTGTAAATTTGCTACTCTCTAAAG___GTGCCCAAGTAGACATAAAAGATAATTTTGGACGTAATTTTCTGCATTTAACTGTACAGCAACCTTATGGATTAAAAAATCTGCGACCTGAATTTATGCAG___ATGCAACAGATCAAAGAGCTGGTAATGGATGAAGACAACGATGGGTGTACTCCTCTACATTATGCATGTAGACAGGGGGGCCCTGGTTCTGTAAATAACCTACTTGGCTTTAATGTGTCCATTCATTCCAAAAGCAAAGATAAGAAATCACCTCTGCATTTTGCAGCCAG___TTATGGGCGTATCAATACCTGTCAGAGGCTCCTACAAGACATAAGTGATACGAGGCTTCTGAATGAAGGTGACCTTCATGGAATGACTCCTCTCCATCTGGCAGCAAAGAATGGACATGATAAAGTAGTTCAGCTTCTTCTGAAAAAAGGTGCATTGTTTCTCAG___TGACCACAATGGCTGGACAGCTTTGCATCATGCGTCCATGGGCGGGTACACTCAGACCATGAAGGTCATTCTTGATACTAATTTGAAGTGCACAGATCGCCTGGATGAAGACGGG___AACACTGCACTTCACTTTGCTGCAAGGGAAGGCCACGCCAAAGCCGTTGCGCTTCTTCTGAGCCACAATGCTGACATAGTCCTGAACAAGCAGCAGGCCTCCTTTTTGCACCTTGCACTTCACAATAAGAGGAAGGAGGTTGTTCTTACGATCATCAGGAGCAAAAG___ATGGGATGAATGTCTTAAGATTTTCAGTCATAATTCTCCAGGCAATAAATGTCCAATTACAGAAATGATAGAATACCTCCCTGAATGCATGAAG___GTACTTTTAGATTTCTGCATGTTGCATTCCACAGAAGACAAGTCCTGCCGAGACTATTAT___ATCGAGTATAATTTCAAATATCTTCAATGTCCATTAGAATTCACCAAAAAAACACCTACACAGGATGTTATATATGAACCGCTTACAGCCCTCAAC___GCAATGGTACAAAATAACCGCATAGAGCTTCTCAATCATCCTGTGTGTAAAGAATATTTACTCATGAAATG___GTTGGCTTATGGATTTAGAGCTCATATGATGAATTTAGGATCTTACTGTCTTGGTCTCATACCTATGACCATTCTCGTTGTCAATATAAAACCAGGAATGGCTTTCAACTCAACTGGCATCATCAATGAAACTAGTGATCATTCAGAAATACTAGATACCACG___AATTCATATCTAATAAAAACTTGTATGATTTTAGTGTTTTTATCAAGTATATTTGGGTATTGCAAAGAAGCGGGGCAAATTTTCCAACAG___AAAAGGAATTATTTTATGGATATAAGCAATGTTCTTGAATGGATTATCTACACGACGGGCATCATTTTTGTGCTGCCCTTGTTTGTTGAAATACCAGCTCATCTGCAGTGGCAATGTGGAGCAATTGCTGTTTACTTCTATTGGATGAATTTCTTATTGTATCTTCAAAG___ATTTGAAAATTGTGGAATTTTTATTGTTATGTTGGAGGTAATTTTGAAAACTTTGTTGAGGTCTACAGTTGTATTTATCTTCCTTCTTCTGGCTTTTGGACTCAGCTTTTACATCCTCCTGAATTTACAG___GATCCCTTCAGCTCTCCATTGCTTTCTATAATCCAGACCTTCAGCATGATGCTAGGAGATATCAATTATCGAGAGTCCTTCCTAGAACCATATCTGAGAAATGAATTGGCACATCCAGTTCTGTCCTTTGCACAACTTGTTTCCTTCACAATATTTGTCCCAATTGTCCTCATGAATTTACTT___ATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAG___GTGGAACTTCATACCAGCTTAGAGAAGAAGCTGCCACTTTGGTTTCTACGCAAAGTGGATCAGAAATCCACCATCGTGTATCCCAACAAACCCAGATCTGGTGGGATGTTATTC___CATATATTCTGTTTTTTATTTTGCACTGGGGAAATAAGACAAGAAATACCAAATGCTGATAAATCTTTAGAAATGGAAATATTAAAGCAGAAATACCG___GCTGAAGGATCTTACTTTTCTCCTGGAAAAACAGCATGAGCTCATTAAACTGATCATTCAGAAGATGGAGATCATCTCTGAGACAGAGGATGATGATAGCCATTGTTCTTTTCAAGACAGGTTTAAGAAAGAGCAGATGGAACAAAGGAATAGCAGATGGAATACTGTGTTGAGAGCAGTCAAGGCAAAAACACACCATCTTGAGCCTTAGCTCCTCAGACCTTCAGTGAGGCTTCTAATGGGGGGTGCATGACTTGCTGGTTCTAACTTTCAATTTAAAAAGAGTGAGGAAGAAGCAGAATGATTCATTTTGCTGCGTGTGAAATCATGGTTCCTGCATGCTGTATAAAAGTAAACCATCTTTTATCCTCTATTCATATTTTCTACCAATCACTATGTATTGGGGATATCTTTGCAGATATGTTCAAATTGGACTGGACTTTGATGAGATATAATCTCATTATTTGAATGGGTAGAAAATGAATTTGCTAGAACACACATTTTTAATGAAAAGAAGTAATAAATGTAACTATTAAGCTAAAATGCAAATGTCAGTACTGAATTCCTGCTTGTTAATTACATAATATGTGATGCTCTAGAAAATAGTCACAAGTATTAATAATGCCTTAGATGATAGTCTTAAATATTAGGTTGAGGTCTACCTAACCTAAGCTGCTTCCTGGAAAGCTTCATGTTGAAAGAACCTATGGGTGGCACCATGTGGACTTTTCTGTCCCTACTGTGATGAATAGCCCCACCCTTCTTGCTGTCCCCAACACACCTGATGTCACTTTGAGCCATATAGTTGAAGTACAAATTAATAGGCCTTATGATATGCACGAATTTTACTATAGATAATATATGTTGTTTCTGGTTTTGTTTGCCAATGAGCATAATAAATGTAAAACCTATATAGTATCCCTGTGATTATTGTATGAGCCTTTGTTTGAGATTTGAAAACAACATGGCTCCATCACATATTCCCTTTTTTCTTTTGATGTCTACTCAAATCATGAATTAATCACATACCTCATCATTAATCTTTTCAAGGTCCTTCTATTGTTTTGTCTGATTTTCTCCATCATCCTGATTAGCATGTTTATTCCCTCACTACCCCCAGGAGATATTCACTGTAATGAATATGTCTTTGGCTATGTATGTGTCCTTGTGTTATGTTGTACAGTGTTGTTTTGAGTCTGTTATTATTTACACAGATGTTATTATGCTATAGCTTCTATTTCTGTTTTTGCTTCTTATTTCTCTTATAATTCTCACTTATTTCCTATTTTTTCTACTCATTTCTATTTGTTACTCCTTTTTACTGGACATGATGTTTACAAGATACAACTGTGTTACTGTATTCCATCTAGTACGGGGCCTTTGGTGTGGCTTACTATTTCATTGTGTGCACCCACCCACCCACCACACTGGACTTTTCTAGAGATGGACAGCTTGGTTACCTCCACCTTCCTGCACTCATTCTCAAACATACTGATGTTCATACAAACCAGCAGAGTGCTGAGGGACGATATGTACTATTACAAAACCAGACACTTTTACATTCATGGTCCAACAGATCACATGGCCTAGAGGCAATGTTGCATATACCTTAATCTTTGATATGAATAATATCTTTGTTCTTTATATTTCTTAAAACAGAAAGGGTGGAAAATCACTATACAGAAGCAATATCCAAAGATCTCCTGATCATAAAGACAAGGGGTCTTTTCAGTCTTCCCTCTCCTCAAACCTTGTGTAGCATTGCACAATATAGATCTCAGTCAACATTCACTGAGTGCCAAGAATGTGAGAAACACTGTACCATGCCTGTCATGCGAAATATTTAAATAAACAGATTGTCTTACAA)$ MANPKEKTAMCLVNELARFNRVQPQYKLLNERGPAHSKMFSVQLSLGEQTWESEGSSIKKAQQAVANKALTESTLPKPVQKPPKSNVNNNPGSITPTVELNGLAMKRGEPAIYRPLDPKPFPNYRANYNFRGMYNQRYHCPVPKIFYVQLTVGNNEFFGEGKTRQAARHNAAMKALQALQNEPIPERSPQNGESGKDVDDDKDANKSEISLVFEIALKRNMPVSFEVIKESGPPHMKSFVTRVSVGEFSAEGEGNSKKLSKKRAATTVLQELKKLPPLPVVEKPKLFFKKRPKTIVKAGPEYGQGMNPISRLAQIQQAKKEKEPDYVLLSERGMPRRREFVMQVKVGNEVATGTGPNKKIAKKNAAEAMLLQLGYKASTNLQDQLEKTGENKGWSGPKPGFPEPTNNTPKGILHLSPDVYQEMEASRHKVISGTTLGYLSPKDMNQPSSSFFSISPTSNSSATIARELLMNGTSSTAEAIGLKGSSPTPPCSPVQPSKQLEYLARIQGFQ|LKKGAKPCKSNKWGCFPIHQAAFSGSKECMEIILRFGEEHGYSRQLHINFMNNGKATPLHLAVQNGDLEMIKMCLDNGAQIDPVEKGRCTAIHFAATQGATEIVKLMISSYSGSVDIVNTTDGCHETMLHRASLFDHHELADYLISVGADINKIDSEGRSPLILATASASWNIVNLLLSKGAQVDIKDNFGRNFLHLTVQQPYGLKNLRPEFMQMQQIKELVMDEDNDGCTPLHYACRQGGPGSVNNLLGFNVSIHSKSKDKKSPLHFAASYGRINTCQRLLQDISDTRLLNEGDLHGMTPLHLAAKNGHDKVVQLLLKKGALFLSDHNGWTALHHASMGGYTQTMKVILDTNLKCTDRLDEDGNTALHFAAREGHAKAVALLLSHNADIVLNKQQASFLHLALHNKRKEVVLTIIRSKRWDECLKIFSHNSPGNKCPITEMIEYLPECMKVLLDFCMLHSTEDKSCRDYYIEYNFKYLQCPLEFTKKTPTQDVIYEPLTALNAMVQNNRIELLNHPVCKEYLLMKWLAYGFRAHMMNLGSYCLGLIPMTILVVNIKPGMAFNSTGIINETSDHSEILDTTNSYLIKTCMILVFLSSIFGYCKEAGQIFQQKRNYFMDISNVLEWIIYTTGIIFVLPLFVEIPAHLQWQCGAIAVYFYWMNFLLYLQRFENCGIFIVMLEVILKTLLRSTVVFIFLLLAFGLSFYILLNLQDPFSSPLLSIIQTFSMMLGDINYRESFLEPYLRNELAHPVLSFAQLVSFTIFVPIVLMNLLIGLAVGDIAEVQKHASLKRIAMQVELHTSLEKKLPLWFLRKVDQKSTIVYPNKPRSGGMLFHIFCFLFCTGEIRQEIPNADKSLEMEILKQKYRLKDLTFLLEKQHELIKLIIQKMEIISETEDDDSHCSFQDRFKKEQMEQRNSRWNTVLRAVKAKTHHLEP* 11CO079 ENSG00000124207.17 ENSG00000124203.6(14940),ENSG00000124205.18(26390) +/+ ./- chr20:49046423 chr20:59274053 5'UTR/splice-site intergenic inversion 3 4 0 202 14 high . . . . . ENSG00000124207.17 . ENST00000396192.7 . downstream downstream . ^(AGAGCATTCCTGGCCCCGCCCCCTGCAGCGGGCCGCTCGCTCATGCGCTCTGGCCTCAGGCTCGCTGTCGCGCCATTTTGCCGGGGTTTGAAT)GTGAGaCGGAGCGGCGGCAGGAGCGGGTAGTGCCAGCTACGGTCCGCGGCTGGGGTTCCCTCCTCCGTTTCTGTATCCCCACGAG|GTTTAAAACTTGACCTTCTGGAGTGTCGGCAAACTGAGAAATCCAGCAGACTCCCACGCATGAGGACTCCGGAGATGACCACAACGCCATGACCAGCCGTGGAGGCAGCTTGGGGGATGGACGAGGCTAAGCAGGTGAAGCTTGCCTGCTGAGTAGTACACATGAGTTAGAAGTCAGG . 11CO079 ENSG00000064607.17 ENSG00000130167.13 -/- +/+ chr19:19019109 chr19:11312139 CDS/splice-site CDS/splice-site inversion 3 1 0 42 8 high out-of-frame . |Tetraspanin_family(100%) . . ENSG00000064607.17 ENSG00000130167.13 ENST00000337018.10 ENST00000592955.5 upstream upstream . ^(CTGCGCGGCGCGGCGCTGCGGAGACCGTTGGTTCATTTGCATGTCCCCGCCTCGCGCGGCGGCGGCGGCGGGTGAGGAGCCTGAGGCGGCGGCGGGGGTGGCTCCGCGCGCGGTGGTCTCGGG___GGCAAAATAACATGGCAGCCAGACGAATTACACAGGAGACTTTTGATGCTGTATTACAAGAAAAAGCCAAACGATATCACATGGATGCCAGTGGTGAGGCTGTAAGCGAAACTCTTCAGTTTAAAGCTCAAG___ATCTCTTAAGGGCAGTCCCAAGATCCAGAGCAGAGATGTATGATGACGTCCACAGCGATGGCAGATACTCCCTCAGTGGATCTGTAGCTCACTCTAGAGATGCCGGAAGAGAAGGCCTGAGAAGTGACGTATTTCCAGGGCCTTCCTTCAGATCAAGCAACCCTTCCATCAGTGATGACAGCTACTTTCGCAAAGAATGTGGCCGGGATCTGGAATTTTCTCACTCTGATTCTCGGGACCAGGTCATTGGCCACCGGAAATTGGGGCATTTCCGTTCTCAGGACTGGAAATTTGCGCTCCGTGGTTCTTGGGAACAAGACTTTGGCCATCCAGTTTCTCAAGAGTCCTCTTGGTCACAGGAGTATAGTTTTGGTCCCTCTGCAGTTTTGGGGGACTTTGGATCTTCCAGGCTGATTGAGAAAGAGTGTTTGGAGAAGGAGAGTCGGGATTATGACGTGGACCATCCTGGGGAGGCTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGAGGTCGAGCTCTAAACATCGTTGACCAGGAAGGTTCCCTCCTAGGAAAGGGGGAGACTCAGGGCCTGCTCACAGCTAAGGGGGGTGTTGGGAAACTTGTCACATTGAGAAATGTGAGCACAAAAAAAATACCCACCGTGAATCGTATTACTCCCAAAACTCAGGGCACTAACCAAATCCAGAAAAACACTCCAAGTCCTGATGTGACCCTGGGGACAAACCCAGGGACAGAAGATATCCAGTTCCCCATTCAGAAGATCCCTCTGGGGCTGGATCTGAAGAATCTTCGGCTCCCCAGAAGAAAGATGAGCTTTGACATCATAGATAAGTCTGATGTTTTTTCAAGATTTGGGATAGAAATAATCAAATGGGCAGGATTCCACACCATAAAAGATGATATTAAATTTTCCCAACTTTTCCAGACTCTCTTTGAACTTGAAACAGAAACCTGTGCTAAAATGCTTGCCTCATTCAAATGTTCCTTAAAACCAGAGCACAGAGATTTTTGCTTTTTTACTATCAAATTTTTAAAGCACTCTGCTTTGAAAACACCCAGAGTTGATAATGAGTTTTTAAACATGCTTTTAGACAAAGGTGCTGTGAAGACCAAAAATTGCTTTTTTGAAATCATAAAGCCTTTTGACAAGTACATAATGAGACTTCAAGACCGGCTTCTGAAGAGTGTCACACCTTTGCTTATGGCCTGCAATGCCTACGAGCTAAGTGTCAAGATGAAGACCCTCAGTAACCCCCTGGACTTGGCTCTTGCCCTAGAAACCACCAACTCTCTCTGCCGGAAGTCTTTGGCCCTTTTGGGACAGACATTTTCCTTGGCCTCTTCTTTCCGGCAGGAGAAAATCTTAGAAGCTGTCGGCCTGCAAGATATAGCTCCCTCACCTGCTGCGTTTCCAAACTTCGAAGACTCCACTTTGTTTGGGCGAGAGTACATAGACCACCTGAAGGCCTGGCTAGTCAGCAGCGGATGTCCCCTCCAGGTTAAGAAAGCCGAACCAGAGCCGATGCGAGAGGAGGAGAAAATGATTCCTCCTACGAAACCTGAAATTCAGGCCAA)GGCTCCAAGTAGTCTGAGTGATG___CTGTCCCCCAGCGAGCAGATCACAGGGTAGTGGGCACCATCGACCAGCTTGTGAAACGTGTCATCGAAGGCAGCCTGTCTCCCAAAGAGAGAACTCTTCTCAAAGAGGACCCTGCTTACTG|GGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAG___TTGCCAGGAATTCTTG(CCACTTTGCTGCTGTTTATCAAGCTGGGCTGACACCCAGGCCTGGAGAAGATGAGACACCTGGGCCCATCTGGCTGCTGGAGATTCAGTCTCAGTTTTATTTCTCTGTGGCACTCACTGCTTCTGGAGGGGAGACTGTTAATAAAAGATTTGGGAACCCCC)$ MAARRITQETFDAVLQEKAKRYHMDASGEAVSETLQFKAQDLLRAVPRSRAEMYDDVHSDGRYSLSGSVAHSRDAGREGLRSDVFPGPSFRSSNPSISDDSYFRKECGRDLEFSHSDSRDQVIGHRKLGHFRSQDWKFALRGSWEQDFGHPVSQESSWSQEYSFGPSAVLGDFGSSRLIEKECLEKESRDYDVDHPGEADSVLRGGSQVQARGRALNIVDQEGSLLGKGETQGLLTAKGGVGKLVTLRNVSTKKIPTVNRITPKTQGTNQIQKNTPSPDVTLGTNPGTEDIQFPIQKIPLGLDLKNLRLPRRKMSFDIIDKSDVFSRFGIEIIKWAGFHTIKDDIKFSQLFQTLFELETETCAKMLASFKCSLKPEHRDFCFFTIKFLKHSALKTPRVDNEFLNMLLDKGAVKTKNCFFEIIKPFDKYIMRLQDRLLKSVTPLLMACNAYELSVKMKTLSNPLDLALALETTNSLCRKSLALLGQTFSLASSFRQEKILEAVGLQDIAPSPAAFPNFEDSTLFGREYIDHLKAWLVSSGCPLQVKKAEPEPMREEEKMIPPTKPEIQAKAPSSLSDAVPQRADHRVVGTIDQLVKRVIEGSLSPKERTLLKEDPAYw|avsins* 11CO079 ENSG00000139083.11 ENSG00000286049.1(79945),ENSG00000274647.1(126031) +/+ ./- chr12:11650160 chr12:91506881 CDS/splice-site intergenic inversion 1 2 0 12 3 high out-of-frame . . . . ENSG00000139083.11 . ENST00000396373.9 . downstream downstream . ^(ACGTCAGTTTCTGCACTGAAACTCTCAAGATCAATGAGCAAAGAGCTTTCTCAGTTCTGCCTTTCAGTTTCTCTCTTCCAGGAAGGAAAACATTCGAGAGAGCGAGGGAGAGCCGCGGGAGGGCGGGGGGCGGGGGCGCCGGCTGCGGGTGGGAGGAGAGACCGGGAGGCCGGCCGGGCTGCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCCAACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGACCGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAG)AGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTGAGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAG|CTTCCTACAATTATCCTCATCTCATGGAAAAACTAGACAGAGGAAAAGAAAAGAGGCAAATGGAGCTTCCTTTGCTAAGAGCTCAAATAACTCTCCTCTACATAGTCTTCTTCAAACAAAAACACAAAG...GCTAAGTATCTTCTGAAGAGCAaGATGGAGTAAATTCTGTTTATATCATTATTTTGCCTCCCGACAACTCTTAATGATGATT___AAAAACCAAGTGACATTAATTGATACTGGACACAATCTGTGATATCAGTGATTAAGTTGGAGTTATG MSETPAQCSIK|lptiiliswkn* 11CO079 ENSG00000124224.17 ENSG00000207158.1(141321),ENSG00000231078.1(178333) -/- ./- chr20:58271363 chr20:56927408 exon/splice-site intergenic deletion 2 0 1 29 3 high . . . . . ENSG00000124224.17 . ENST00000650934.1 . upstream downstream duplicates(1) ^(GGTCCCGCCTCCATGCCCATCCCAAGATGGCGG___AGATCCCCCTGTACTTTGTGGACTTGCAGGATGACTTAGACGACT___ATGGATTTGAAGACTATGGTACAGATTGCGACAACATGAGAGTAACGGCCTTCTTGGACATTCCAGGCCAGGATAACCTGCCTCCACTCACTCGCCTGGAGAAGTATGCTTTCAGCGAGAACACCTTCAACCG___GCAGATTATTGCCAGAGGGCTGCTTGATATCTTCCGGGACTTCGGTAACAATGAAGAAGACTTCCTCACGGTAATGGAGATTGTA)GTCAGATTGTCAGAAGATGCAG___AGCCCACAGTGCGGACTGAGCTGATGGAACAGATTCCTCCTATTGCCATTTTTTTACAAGAAAACAGATCAAATTTTCCAGTGGTGCTCTCTGAATATCTCATACCTATTGTAGTGAGGTACCTCACAGATCCAAACAATCAG|ATGAATTTATCCTGCAGACTCGATGCCACTTGCACATCACATGGGCAGCAGCGCGTTCTGAAGCACGGCTTGCATTTTCTTACGCTTGACAATTTCATTTCATCGACTTTGCGATGTCATTTGCTGTGCCGAGTAGTGTTTCCAAATGTGGCTTTGGGACCTCCAGGTA . 11CO079 ENSG00000196562.14 ENSG00000252540.1(3610),ENSG00000197818.11(14189) -/- ./- chr20:47757189 chr20:49798524 CDS/splice-site intergenic duplication 2 1 0 243 2 high out-of-frame . Sulfatase(100%)| . . ENSG00000196562.14 . ENST00000359930.8 . upstream downstream . ^(CACTTGAGCCGAAGTTAATTTCTCGGGGAGTTCTCGGGCGCGCACAGGCAGCTCGGTTTGCCCTGCGATTGAGCTGCGGGTCGCGGCCGGCGCCGGCCTCTCCAATGGCAAATGTGTGTGGCTGGAGGCGAGCGCGAGGCTTTCGGCAAAGGCAGTCGAGTGTTTGCAGACCGGGGCGAGTCCTGTGAAAGCAGATAAAAGAAAACATTTATTAACGTGTCATTACGAGGGGAGCGCCCGGCCGGGGCTGTCGCACTCCCCGCGGAACATTTGGCTCCCTCCAGCTCCGAGAGAGGAGAAGAAGAAAGCGGAAAAGAGGCAGATTCACGTCGTTTCCAGCCAAGTGGACCTGATCGATGGCCCTCCTGAATTTATCACGATATTTGATTTATTAGCGATGCCCCCTGGTTTGTGTGTTACGCACACACACGTGCACACAAGGCTCTGGCTCGCTTCCCTCCCTCGTTTCCAGCTCCTGGGCGAATCCCACATCTGTTTCAACTCTCCGCCGAGGGCGAGCAGGAGCGAGAGTGTGTCGAGTGAGTGTGCGTCTGTGTGTCCCGGCGAGGGTGCGCGCTCGGCGCCGGGAGCGCGGCCAGCCGAGTCCGGAGGCATCGGGAGGTCGAGAGCCGCCGGGACCCCAGCTCTGCGTTCACTGCCCCGTCCGGAGCTGGACTTCGGGGCCGGGGCCGGGGCCGTGCGCCGGGGACAGGCAGGGCCGGGTCGCGGGCCGCGCGTCCCCCAGGCCGGAG___ATCTGCGAGTGAAGAGGGACGAGGGAAAAGAAACAAAGCCACAGACGCAACTTGAGACTCCCGCATCCCAAAAGAAGCACCAGATCAGCAAAAAAAGAAGATGGGCCCCCCGAGCCTC)GTGCTGTGCTTGCTGTCCGCAACTGTGTTCTCCCTGCTGGGTGGAAGCTCGGCCTTCCTGTCGCACCACCGCCTGAAAGGCAGGTTTCAGAGGGACCGCAGGAACATCCGCCCCAACATCATCCTGGTGCTGACGGACGACCAGGATGTGGAGCTGG|GGTGGAACTGAAGCTCAGCAACTTGCATGAGGCCACACAGCTAAGAAGTGGAGAAACTGGGATTTGATCAGAGCCTGCCTGACATCAAAGCCCCCAAAGGATGATGGTGATGTTGATAATAATCA MGPPSLVLCLLSATVFSLLGGSSAFLSHHRLKGRFQRDRRNIRPNIILVLTDDQDVEL|gwn* 11CO079 ENSG00000010803.16 ENSG00000162631.18 -/- +/+ chr1:41186121 chr1:107148069 CDS/splice-site 5'UTR/splice-site inversion 1 1 0 39 7 high out-of-frame . |Laminin_EGF_domain(100%),Laminin_N-terminal_(Domain_VI)(100%) . . ENSG00000010803.16 ENSG00000162631.18 ENST00000337495.9 ENST00000370067.5 upstream upstream . ^(ACATGGCGGCGGGAAGA)GAGTGAGCCGCCCCGCGCCCCCGCCGCGCCCTCAG___ATGGAGAAATTAGCATACAAAGAAACTGACTTGTCAGAAGTCAGAGCAAGGTATTGGTGGATCCAGGGATAAATCCCAAACTTCTTAACCCCTAGACCGGTTTTTAGTCCATTGACTATGCAGCCTAATG|GGTGTTGGTGCCAGAAGAAAAGAATGATTGATGGGAAACAGACACCGGGCTATAGACACTCATCCTTTTGCTTCAG(ATACTGATATCTCAGCCTGCTTGAGCATCCCTTGTGAGCTGTGAACATTGAGGATCACTCAGGGTTATCGGATGTACAACGGGAGAGCCATCGCTTTGCTAAATTATTATCTGCAATTGGACATCTTTTACAAAAACCAAACTAGACCTGAGTCTAATAGATATGTTCTAAGACAAAGAAAAAGCTGCAAGTTGTTAACGCCTAACACACAAGTATGTTAGGCTTCCACCAAAGTCCTCAATATACCTGAATACGCACAATATCTTAACTCTTCATATTTGGTTTTGGGATCTGCTTTGAGGTCCCATCTTCATTTAAAAAAAAATACAGAGACCTACCTACCCGTACGCATACATACATATGTGTATATATATGTAAACTAGACAAAGATCGCAGATCATAAAGCAAGCTCTGCTTTAGTTTCCAAGAAGATTACAAAGAATTTAGAGATGTATTTGTCAAGATTCCTGTCGATTCATGCCCTTTGGGTTACGGTGTCCTCAGTGATGCAGCCCTACCCTTTGGTTTGGGGACATTATGATTTGTGTAAGACTCAGATTTACACGGAAGAAGGGAAAGTTTGGGATTACATGGCCTGCCAGCCGGAATCCACGGACATGACAAAATATCTGAAAGTGAAACTCGATCCTCCGGATATTACCTGTGGAGACCCTCCTGAGACGTTCTGTGCAATG___GGCAATCCCTACATGTGCAATAATGAGTGTGATGCGAGTACCCCTGAGCTGGCACACCCCCCTGAGCTGATGTTTGATTTTGAAGGAAGACATCCCTCCACATTTTGGCAGTCTGCCACTTGGAAGGAGTATCCCAAGCCTCTCCAGGTTAACATCACTCTGTCTTGGAGCAAAACCATTGAGCTAACAGACAACATAGTTATTACCTTTGAATCTGGGCGTCCAGACCAAATGATCCTGGAGAAGTCTCTCGATTATGGACGAACATGGCAGCCCTATCAGTATTATGCCACAGACTGCTTAGATGCTTTTCACATGGATCCTAAATCCGTGAAGGATTTATCACAGCATACGGTCTTAGAAATCATTTGCACAGAAGAGTACTCAACAGGGTATACAACAAATAGCAAAATAATCCACTTTGAAATCAAAGACAGGTTCGCGTTTTTTGCTGGACCTCGCCTACGCAATATGGCTTCCCTCTACGGACAGCTGGATACAACCAAGAAACTCAGAGATTTCTTTACAGTCACAGACCTGAGGATAAGGCTGTTAAGACCAGCCGTTGGGGAAATATTTGTAGATGAGCTACACTTGGCACGCTACTTTTACGCGATCTCAGACATAAAGGTGCGAGGAAG___GTGCAAGTGTAATCTCCATGCCACTGTATGTGTGTATGACAACAGCAAATTGACATGCGAATGTGAGCACAACACTACAGGTCCAGACTGTGGGAAATGCAAGAAGAATTATCAGGGCCGACCTTGGAGTCCAGGCTCCTATCTCCCCATCCCCAAAGGCACTGCAAATACCT___GTATCCCCAGTATTTCCAGTATTGGTA___ATCCTCCAAAGTTTAATAGGATATGGCCGAATATTTCTTCCCTTGAGGTTTCTAACCCAAAACAAG___CGAATGTCTGCGACAACGAGCTCCTGCACTGCCAGAACGGAGGGACGTGCCACAACAACGTGCGCTGCCTGTGCCCGGCCGCATACACGGGCATCCTCTGCGAGAAGCTGCGGTGCGAGGAGGCTGGCAGCTGCGGCTCCGACTCTGGCCAGGGCGCGCCCCCGCACGGCTCCCCAGCGCTGCTGCTGCTGACCACGCTGCTGGGAACCGCCAGCCCCCTGGTGTTCTAGGTGTCACCTCCAGCCACACCGGACGGGCCTGTGCCGTGGGGAAGCAGACACAACCCAAACATTTGCTACTAACATAGGAAACACACACATACAGACACCCCCACTCAGACAGTGTACAAACTAAGAAGGCCTAACTGAACTAAGCCATATTTATCACCCGTGGACAGCACATCCGAGTCAAGACTGTTAATTTCTGACTCCAGAGGAGTTGGCAGCTGTTGATATTATCACTGCAAATCACATTGCCAGCTGCAGAGCATATTGTGGATTGGAAAGGCTGCGACAGCCCCCCAAACAGGAAAGACAAAAAACAAACAAATCAACCGACCTAAAAACATTGGCTACTCTAGCGTGGTGCGCCCTAGTACGACTCCGCCCAGTGTGTGGACCAACCAAATAGCATTCTTTGCTGTCAGGTGCATTGTGGGCATAAGGAAATCTGTTACAAGCTGCCATATTGGCCTGCTTCCGTCCCTGAATCCCTTCCAACCTGTGCTTTAGTGAACGTTGCTCTGTAACCCTTGTTGGTTGAAAGATTTCTTTGTCTGATGTTAGTGATGCACATGTGTAACAGCCCCCTCTAAAAGCGCAAGCCAGTCATACCCCTGTATATCTTAGCAGCACTGAGTCCAGTGCGAGCACACACCCACTATACAAGAGTGGCTATAGGAAAAAAGAAAGTGTATCTATCCTTTTGTATTCAAATGAAGTTATTTTTCTTGAACTACTGTAATATGTAGATTTTTTGTATTATTGCCAATTTGTGTTACCAGACAATCTGTTAATGTATCTAATTCGAATCAGCAAAGACTGACATTTTATTTTGTCCTCTTTCGTTCTGTTTTGTTTCACTGTGCAGAGATTTCTCTGTAAGGGCAACGAACGTGCTGGCATCAAAGAATATCAGTTTACATATATAACAAGTGTAATAAGATTCCACCAAAGGACATTCTAAATGTTTTCTTGTTGCTTTAACACTGGAAGATTTAAAGAATAAAAACTCCTGCATAAACGATTTCAGGAATTTGTATTGCAATTTCTTAAGATGAAAGGAACAGCCACCAAGCAGTTTCACACTCACTTTACTGATTTCTGTGTGGACTGAGTACATTCAGCTGACGAATTTAGTTCCCAGGAAGATGGATTGATGTTCACTAGCTTGGACAACTTCTGCAAAATATGAGACTATTTCCACTTGGGAAAAATTACAACAGCAAAAAAAAAAAAAAAAAAAAAAAAAAATCTAAGTGATTGCCAAGATTATGCCAAAGCCTGTTGGCAGAGTACTAAGAGACTTTTATTTTTAAGTCATGCTATTTTCACAGATTGATGGTGATCATGTGACTCTAGGGATGCTGATCTATGTATCTTTCCAAATACAGTGTTTACATGGAGTATCACAAGACGCAACCTGGGGAACCAGGAAGGGAGCAGGGAAATTGAGTGATTTGCAATTTGACTTTGAATATATTCAGACTTAAGTATTTAGAGGAAATATCAAAATATAAAGCAGCAAGTAGACATAACTGCTGTTCCTGAGAATAAAGTTTGTTTTAAGTGCTGCCCAAGGTGTAATAAATTCTTGTTTCTGCCTTTTATTAGGCCAATTACTGTGCAAGACAGCAAGGGGAGGCAGGTGGGGAAGAACCTTTGCAAAGTTTCAAAGAGGCTAAGACAGTGTGCATTTCGTTCCCAGCACACTGTTGTCCTACAGATTACAAGTGTATTAGCAGCAGCATCTCCTGGAATCAAAAACAATTATCAGCCCGAACCAGAGTCTTAAGGACAATGAAATTCTACATGACTTGGTAGAACAATAACCTATGATAGTGTAAGGTCAGAAACCTAGTTCCAGTCTGAATTCTTCACCCTGCTGCCACTCCTTGCTGAAACAGGGAAGGGGGGAGGAATGTCTCCTGATAAATAACCTGGGTAAAAACTAGATGAAGGAACAGCATGTCTTATTGGTTTTGTTCCCAGAAAAGCCAATTCGAAGAAGGCAATAAAAGGTAAACAGGTAATGCCTGTGCTGCCTGCCACCCCACGTCTAAGTCTATTGAATGTTTGTTATTCAAACCAACAGTCTCTTTTGATGTAAGAAATAAGGAAAGATGGAAATAAATTAGAGCTTAGGCTTAGTGCCAGAGTGGCCAACCAGAAATTGGAGATTTACGTTGGAAGCATAAATAGAAAATTATATTTCAGGCTCACCAAAGAAACACATGAAAATGCTGATAACATAGGGAGTTTGAGATTATTTATAATGAGGTGGATTTCTGATATTAAAATTAGAGTTTAAGTTGTCTTATAGTTTATTAGCACAAACCAAAGGCAGCCCATGTTATTTCTGGCAAAGATGCACTTTATCGTTATCTGCTCATGGCTTTGTCGCAACGCTCAGGAATCAGACACTGCACACTTCAATAGTTGGGATTCCAAAAGCTAATTCTAAAATTTAATGAAGGCCTGATTTAAACTGATTCATCTGCATTTTATCTTTATGAGGCCATAAGAATCTAAATTGATGAGGAATATCTTTCATTCCGTGTATTTAGATATAGTTTTCTGAATTTCCTGAAGCGATGTGATCTGCTTTTAATAAAAATTCACTTTTAGGT)$ MQPN|gcwcqkkrmidgkqtpgyrhssfcfry* 11CO079 ENSG00000158470.5 ENSG00000235544.1(153330),ENSG00000282478.1(37221) -/- ./+ chr20:49636050 chr20:11499185 3'UTR intergenic inversion 13 19 0 202 50 medium stop-codon . N-terminal_domain_of_galactosyltransferase(100%),N-terminal_region_of_glycosyl_transferase_group_7(100%)| . . ENSG00000158470.5 . ENST00000371711.4 . upstream upstream duplicates(6),low_entropy(1),mismatches(1) ^(ATGTGGCCCGGCCCGCGACGGCCGGCGGCTGGGAGCGGCGAGGCGGCGGCGGCGGCGAGTGGCGGCCCGCGAGGCCCGGGAGGCGGTGGCCGAGGCCCAGGCGGTGGCGGCGGCGGCCCAGGAGGCGGCGGACGGGGAGCTGCGGGAGCAGGCCCGGCCTGGCTCTCTAGCGGCCGCCTGGCTGCAGCATGCGCGCCCGCCGGGGGCTGCTGCGGCTGCCGCGCCGCTCGCTGCTCGCCGCGCTCTTCTTCTTTTCTCTCTCGTCCTCGCTGCTGTACTTCGTCTATGTGGCGCCCGGCATAG___TGAACACCTACCTCTTCATGATGCAAGCCCAAGGCATTCTGATCCGGGACAACGTGAGAACAATCGGTGCTCAGGTTTATGAGCAGGTGCTTCGGAGTGCTTATGCCAAGAGGAACAGCAGTGTAAATGACTCAG___ATTATCCTCTTGACTTGAACCACAGTGAAACCTTCCTGCAAACTACAACATTTCTTCCTGAAGACTTCACCTACTTTGCAAACCATACCTGCCCTGAAAGACTCCCTTCCATGA___AGGGCCCAATAGACATAAACATGAGTGAAATTGGAATGGATTACATTCATGAACTCTTCTCCAAAGACCCAACCATCAAGCTCGGAGGTCACTGGAAGCCTTCTGATTGCATGCCTCGGTGGAAG___GTGGCGATCCTTATCCCCTTCCGGAACCGCCACGAGCACCTCCCAGTCCTGTTCAGACACCTGCTTCCCATGCTCCAGCGCCAGCGCTTGCAGTTTGCATTTTATGTGGTTGAACAA___GTTGGTACCCAACCCTTTAATCGAGCCATGCTTTTCAACGTTGGCTTTCAAGAGGCAATGAAAGACTTGGATTGGGACTGTTTGATTTTTCATGATGTAGATCACATACCGGAAAGTGATCGCAACTATTATGGATGTGGACAGATGCCGAGGCATTTTGCAACCAAATTGGATAAGTATATGTATCT___GCTTCCTTATACCGAGTTCTTTGGCGGAGTGAGTGGCTTAACAGTGGAACAATTTCGGAAAATCAATGGCTTTCCTAATGCTTTCTGGGGTTGGGGTGGAGAAGATGACGACCTCTGGAACAG___AGTACAGAATGCAGGCTATTCTGTGAGCCGGCCAGAGGGTGACACAGGAAAGTACAAGTCCATTCCTCATCACCATCGAGGAGAAGTCCAGTTTCTTGGAAG___GTATGCTCTGCTGAGGAAGTCAAAAGAACGGCAAGGGCTGGATGGCCTCAACAACCTGAACTACTTTGCAAACATCACATACGACGCCTTGTATAAAAACATAACTGTCAACCTGACACCCGAGCTGGCTCAGGTGAACGAGTACTGAGAGGAGAGAATGTACGTTTGCTTTACCCACCGCCACCAAGAAAGCAGTCCGATGAGATTTTTTTTTGGAGGG)GGGAGGGTCTACACAGCAAGAGAACAGAAATACTGTGTCTCATGAAGGATCACAGAGTTCAGGGGGAAAATGTGACAGCACACGCACAAACGCCTTCACTGGATCAGCCGCTGGAACTGAGGGAGTGAGCTTGGGGACTTCCTTCGTCAGCACTGGCTTTCTGTTTTCACAAGACAGACGTCTGTCCCGC|AAAGATTCATTGGATAGAGTATTTTTTCCCCAACGTAATCCAGATCTCCCTTTAGAAGACGCTGGGAATTTACACGAGAAATGGGGCAGGCCATGAGCAAAACAAAAAAATGACTGATATtCTTCTTCGGCTTTCATGAATTTTTCTTTTAGCTTTGGCCCCCACCTCTACTACTGATCAAAATTCCAGGGCTTATAAAGTGCTGGTGCTCAGCTAGGATTACGTTAG . 11CO079 ENSG00000085832.17 ENSG00000233203.6(74493),ENSG00000284601.1(11557) -/- ./+ chr1:51519199 chr1:54963343 CDS/splice-site intergenic inversion 0 15 0 21 26 medium out-of-frame . . . . ENSG00000085832.17 . ENST00000371733.8 . upstream upstream duplicates(1) ^GTCTTCCTTCCCCTCCCTTGCATGATGGAAACACCATGGCTGCGGCGGCCCAGCTCTCTCTGACACAG|AGACCACCAAGTTTTAGATGATCATGCAACAAAGCTTCCAGCCAGTTCCAGGTGAAGACACCACCCCTGACCATCAAGAAGCTACCCCGCCTCCACTAGACAGAGCAGGGAGAGAGTTCCGTCATCCTTAATAGGTAGAGACTATGCCGCAAGCCAGCATGAAGCAGTTACAGAAAAAAGACGATTGGTCCCTCTGCCTCCCATGAAGATTTA MAAAAQLSLTQ|rppsfr* 11CO079 ENSG00000133030.21 ENSG00000266498.1 +/+ -/+ chr17:17042971 chr17:17235767 CDS/splice-site exon deletion/read-through/5'-5' 3 4 0 76 25 medium out-of-frame . . . . ENSG00000133030.21 ENSG00000266498.1 ENST00000651222.1 . downstream upstream duplicates(2) ^(CGCGGCCGCGCTGAGCCCCTAGCCCGCCGGGAGCGCCAGGCCGGCCAGGCCTGCGCCGCCGCCGCCGCCGCCGTCGCCGCCGCGCCGACCATGTCGGCAGCCAA)GGAGAACCCGTGCAGGAAATTCCAGGCCAACATCTTCAACAAGAGCAAGTGTCAGAACTGCTTCAAGCCCCGCGAGTCGCATCTGCTCAACGACGAGGACCTGACGCAG|GTGTTTGCTGAAGAAAACAAACTGGTTTGAGTGTGTCTCACGAGTCTGTTTCCAACAAGCTTTCCAGAACCCACATAGGAAGCCGAAATGCCCTGGCTGACAGTCTCTTCATCAACATATCCAAAGACAGTATTCAAATTCCCTGATGTGGTAGAGTGTCTGTTCATGTCCCCCTCCCACAATGGCTGAGTCCCAGACCTGGACAGTGACCTCACCACCACCCGTGGTG MSAAKENPCRKFQANIFNKSKCQNCFKPRESHLLNDEDLTQ|vfaeenklv* 11CO079 ENSG00000125875.14 ENSG00000225377.6 -/- -/- chr20:462336 chr20:322565 CDS/splice-site exon/splice-site deletion/read-through 2 4 0 24 39 medium out-of-frame . . . . ENSG00000125875.14 ENSG00000225377.6 ENST00000354200.5 ENST00000662580.1 upstream downstream . ^(GCGCGCCGCTGGCCGACGGAGGGGAGCCTGCCGATGCCGAGCGGGTGCTACGTCCCGCGGTCGGAGCCGCGTCTTCTCCCGGCTCCGCCA)CCAGCCGGGGCTCGGGTGGGGGCCCGGGGCCCCGGGGCATGGCCCTCCGGAGTGCGCAGGGCGACGGCCCCACCTCCGGCCACTGGGACGGCGGCGCGGAGAAGGCAG|ACATTTATGCAGTGTGTGATTCTTTCTAAAACAACTCCCTGGAAGAGAGGACATTTAATTCAACAATTTATTGGCCACCTACTGTGCACCAGGCAGTGAACTTGGAACTGGGGCTACTGGGTTACAGCAGTGACCAAGACAGAGGTCCCTGTTCTTAAGGAGCAAGTGAGGGCAACAGAAAAGAGCAGGTAAACAAATAAGATAATTTCAGATAGTTGTGACTGCTATAAAGAAAATAAAGCTGGGCTGGG(TGTGGTGGTTCACGCCTGTAATCCCTGCACTTTGGGATGCCAAGGCGGGAGAATCGCTTGAGCCCAGGAGTTTCAGACCAGCCTGGGTAACATAGAGAAATCCCACCTCCACAAAAATTCAAAAATTAGCCGGGCATGGTAGCAAGCACCTGTCATCTCAGCTTCTGGGGAGGCTGAGGTGGGAAAACGCTTAAGCCAGAGATTTTGAGGCTGTAGTGAGCTATGATGGTGCCACTGCACCCCAGACTGGGTGATGGAAAGAAGGGAGGGAGGGGCTGGGCAAGGTGGCTCACATCTGAAATCCCAGCGCTTTGAGAGGCTGAGGTGGGCAGATGCTTGAGCCTAGAAGTTCAAGACCAGCCTAGGCAACATGGCAAAAGCCTGTCTCTACAAAAAATACAAAACAGCCAGGTGTGATGGCCTGTGCCTTTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATCGTTTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCTGTGATCGTACCACTGCACCCCAGCCTGTGGGACAGAGTGAGACCCTGTCTCAAACGACAATGAAAAGAAAACAAGGTAATGAGAGAGTGAGTGACTGGGACGGGGGATGATAGAGATGGGGGAGAGTTTAGATCTCAAGATGACGAAGAACCATCCATGTAAAACATTCCAGGCAGAGGAAACAGCAAGTGCAAGGGACTGGAGATGGGAAGGAGACTGGGACGAGGTATTGAGAGGGCATGGATAGGTGCCAAGACCAGAGATGGGGGAGTGTACATGAGGAATACGATGCGTTTATGTTGAGCTGGAGCTGAAGGGCAATACGGTAGTTGGTCCTCAGAAGCCAAGTTATGGAGTTCCCTGGGTTGTGGGGAGCCAGGGACAGTTTTTTTATTGCAGGATGACATGATCAGAGGTACGCTTCAGCAAGATTAAGGAGTTTCATGTGTTGTAGTTGGATTGGAGGAGGGAAATTTGGGGGGAAAGATCAGCTGGAAATTTTCTTGTGTTTCAAAAACATGTTCACAAATTCTTTTTTTTTTTTTCTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTGTTGTATTTTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTTCACAAATTCTTTAATGTTCCTTCCTTCAAAAGGAAGAGCCTAATTCCTCCTCCCCTTCCCAGTTAAGTGTGAACTTGCCTCTAACTAATAGAATATGGCAGAAGTGATGGTTTGTGATATCTAAGATTGGACATAGAAAGCTCTATGTTTTCCTCCTGGCTGTCTTATTTTGTATCATTTATTCTGGGAGAAGTCAGCTGTCATGCGAGGGCACTCAAGCAGCCCTGTGGAAAGCTCTACGTGGTGAGAAACTGAAGCCTCCTGCCAACACCAACAAGGAACTGAGACCTACTTCCAACAGCCATCTGAGTGATCGATCCATCCTGGAATCAGATCCTCCAGCCCCAGTCAAGTCTTCAGATGACTGCAGCCCTGACCAGCATCTCAACTGCAACCTCGTGAATGACCCTGAGCCAGAACCATGCAACTAAACTCTGCGTGGATTCATGACCCACAGAAACTGTGAGATGGTAGCTGTTTGCTTTGTTAAGCCTCTAAGTCTGGAAAGAATGTCTTAAGCAGTAGCAGACAATGAACACAAGATTATTATTCAGCTGTTGAATTGGAAGAGGAGGGGAAGAAAAAATTTTCAGATCACAAAATATTCAT)$ MALRSAQGDGPTSGHWDGGAEKA|diyavcdsf* 11CO079 ENSG00000133030.21 ENSG00000141030.13 +/+ -/+ chr17:17042971 chr17:17246935 CDS/splice-site 3'UTR deletion/read-through/5'-5' 3 2 0 76 41 medium out-of-frame . . . . ENSG00000133030.21 ENSG00000141030.13 ENST00000651222.1 . downstream upstream duplicates(1),mismatches(1) ^(CGCGGCCGCGCTGAGCCCCTAGCCCGCCGGGAGCGCCAGGCCGGCCAGGCCTGCGCCGCCGCCGCCGCCGCCGTCGCCGCCG)CGCCGACCATGTCGGCAGCCAAGGAGAACCCGTGCAGGAAATTCCAGGCCAACATCTTCAACAAGAGCAAGTGTCAGAACTGCTTCAAGCCCCGCGAGTCGCATCTGCTCAACGACGAGGACCTGACGCAG|AGAAAATGGTTTTCTGAAAGCACACAGGACTGAAGATGTCAAAACAAAACTTAATTTCTTAGTCTCCAGGTGACACAGGCTTGGTCCTCTCTGCTGCCCTCCGAAC MSAAKENPCRKFQANIFNKSKCQNCFKPRESHLLNDEDLTQ|rkwfsestqd* 11CO079 ENSG00000285943.1 ENSG00000166147.14 -/- -/- chr3:113506509 chr15:48412667 CDS/splice-site CDS translocation 2 0 0 54 69 medium out-of-frame . . . . ENSG00000285943.1 ENSG00000166147.14 ENST00000649772.1 ENST00000316623.10 upstream downstream . ^GTGGCGCGCTCCGCGGTTCCGGCGCCTGAAGTTTTAGCTGCGGTGGCGGCGGCAGTCGGGACCGACTGCAAG___ATGTCATTTGTCAGAGTGAACCGCTGTGGTCCCCGAGTTGGTGTAAGAAAGACACCGAAAGTAAAGAAGAAGAAAACTTCAGTGAAACAAGAATGGG|CTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCCTCCAATATCGAG___GATCAGTCTGAGACAGA(AGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAGACAGCCATCTTTGCTTTCAATATTTCCCACGTCAGTAACAAGGTTCGAATCCTAGAACTCCTTCCAGCTCTTACAACTCTGACGAATCACAACAGATACTTGATCGAATCTGGAAATGAAGATGGCTTCTTTAAAATCAACCAAAAGGAAGGGATCAGCTACCTCCACTTCACAAAGAAGAAGCCAGTGGCTGGAACCTATTCATTACAAATCAGTAGTACTCCACTTTATAAAAAGAAAGAACTTAACCAACTAGAAGACAAATATGACAAAGACTACCTCAGTGGTGAACTGGGTGATAATCTGAAGATGAAAATCCAGGTTTTGCTTCATTAATTCACCATCCAGAGACCAAATAATTAAAAGAAAAACAAATATAGATAGGTAGAACTATATTTTCCCCCAATCAGAATCATCATATCATAGGTACAATCTTTCACCAAGTAAATTTGTATAAATAAGCACTATTCTTTGTATTACCAAAGCAAGGTACAGGTGACTACCCTAGTTCAAAACAACCACTTTCTCAGGCTTCTCATGTGTGTAGCTAAGCTACCTTGTCATATGTGTTGATTCTTGAAAACTGGGACGTGTATTTCCATTGGGGGTTGGCCATTTATGCTGACATGCCATCCTTCCAGCAAACGTACGGGAATGTGCTTTCAATTGATGGACTACTCTATTTTTTGCAAATTTGTAAACTTTGCTTCTCCAAATACAAGTACTAGGTTGTCCATTTATGGTACCTATTTGGTGCTAGTAAATTTTCAAACTAGATTTATAAATGCACTGTAATATGTACACAACTTAGAAACCAAATTACAAGTATTCAGTTCCAATACTTCATTAATTTCAATCAACCAAAGTTAGTTCAGTAGCTTATCTCAGTTATGAGTATAATACATTACATGTAAATTAAGTGTGTGTATACTGTAATCGTGCTATTTTTTATCATTGAAACATTTATAAACTAGAATAATAATGCCCTTAATGTGAGGGTTTGTAATGGTGCTTATTAAGACCAAAGACTTGTTAAATGTATACACCAAGTGGTAATGAAATTTCGGTGACTGGCCCACACGTGCATAGAGGTCTGGGAGGACCAGGAAACAGCCTCAGTGGCCAGAGGATCACCAGTGCATCCTTCATCACAGCATGTGCAATATGCCAAGATTACCCTCGGTCATTCCTGTCAACAAGGGGTCAATGTCATAAATGTCACAATAAAACAATCTCTTCTTTTTTTTAGTTTACCCCTTGGCTTTGTGTTCTTGCATGGATTTGGGGTTGGAGGGGCCATTCCGGAGGCTAAATAAAGTCTCCTGGATTTAAATTATCCTGGGTCTCTTACTTATGGCTTATGAAAGTACCAAATGTATAACCACTAGAAGAAAATTTAACATATGAGTCGATCCCTTGTTTTATCCATTGAAAGTAGCAGAGTCTGGTGTCATTAACCTGACTTGCTTGTGAGAAATTTAGATTGTAGAGTCATTTCTGAAACATGACCTAATTCATCTTGTGACTTTTAAATAGTCTTAAATACCAAGTTCAGTCATTGTCTTAGAGCACATGAATTTCATTATAATAGATTTATCATGCCCCCCTCTCAAATATACACAGTTTTGGCAAGCCTTAGGTGTTCTGTTCCATTTTTTTTTCCCCTAAACATCTTTCGTTAGTCAATGCTCATCTAATTACAAAGGGATAATCCCAGACTGTATCCAATTGCTGTAACTTTTGGTTTCTTAATGTCATAATTTTTAAAGTCTGTTTTATTTTAAGTGCAATATTGAGTATTTAGCTGTTAGGCTCAATCCGTCGATATGAAATAATTTTTTAAATCCCTAAGGGCAGGAAAGCATTTCGTGGTAGTGAAAATAAGAGGAAATAAGATGGCATGAAGGTGGTGGGCGGAGAAACTAGGTAGGACACAGGAAAGTGCTCTCAAAAATCTTTGAAGAGCTCAGCTGAAAAAAATGGAGTAGATTTGGCTCATACTATTCCGGAAGGCAAAACCAGGGTCAGCTGATGTCAGCCCCAGTTTAATACACACGGTCCCAATTATAGAGCTACTCACTGAAAGAATGGGTTTCCTTGCATTGTGGTGAGCTCCCTGTCACAAGATAGAAGAGTTTCAGTCTAGGCTTAATGGCAACCATTGGACAAAGATGCTTTCTTCCACCTAACAGGCCATTAACATCTTAAAGGTATTTTTGTATCTCTAATTTTGTTTATAATAGGTGCTCAACAGAATGAGCTGAATGGCTGTTACAAAGGGGGTTTGTACCTTGGGTAAGAGATTAAAATATAACTCAAAATTTCCTTCTAACGCTGCACCTATGGAACCATGTGATAGAGGTGTATTAAAATTGTTATCGAAGAATATATAGCATATGGTAAACAACAGTTTGCATATGGAAAATGTCTTTGATAATTTAACCAGAACTGCATTATATTCAATAACGGATTTTCTTTATAACAAACAACAGGGGAAAATGGAGTTGGCACACAGTGGATCACTTTGATATTTTTAATAGTCCAAGTCTGGATTTTATTTATTCCTGAGCCAACAATTTTGAACAGCATATTTTCCATGTTTCTGACTGTAACAAAACATTTTCCTCATTGTTCCATTGTAAATATTCCTCTTGTTGGAACTCTTTTTAATCCTGAGATTTAAACCTGTACCTTTCAATTGTCTGTGACCTTTCAATTTCACTTTCAATAGTTGAAGAACTTGGCTTTGTAAATCTCTCAGAAGCTTGAAAATATCTTGTCTCTACCCCCTCAGCCCATTTCATTTGCCAATAATTATTTTGTAAGTAGGGTTGAAATGAACTCAGCTGGCCTTGTGAAATGTTTAAACTTGCACAAACAACTACATTTTTGTTCAACAAATAGCAGTTTACTCAGCCAAAATCACTTTGGATATTGCCATTACAAATACTGTTAAACTTCAGAAATCATGTCTGTAAATTAGATGAGCCAAAATAAAGGACAATTGGGTTGA)$ MSFVRVNRCGPRVGVRKTPKVKKKKTSVKQEW|alprgllrv* 11CO079 ENSG00000139292.13 ENSG00000125863.20 +/+ -/- chr12:71535188 chr20:10417992 intron intron translocation 0 2 0 37 3 medium out-of-frame . Leucine_rich_repeat(100%),Leucine_rich_repeat_N-terminal_domain(100%)|TCP-1/cpn60_chaperonin_family(100%) . . ENSG00000139292.13 ENSG00000125863.20 ENST00000266674.10 . downstream downstream . ^(GCTCCACACCGCTCAGGCCGCGAGCAGCAGCAAGGCGCACCGCCACTGTCGCCGCTGCAGCCAGGGCTGCTCCGAAGGCCGGCGTGGCGGCAACCGGCACCTCTGTCCCCGCCGCGCTTCTCCTCGCCGCCCACGCCGTGGGGTCAGGAACGCGGCGTCTGGCGCTGCAGACGCCCGCTGAGTTGCAGAAGCCCACGGAGCGGCGCCCGGCGCGCCACGGCCCGTAGCAGTCCGGTGCTGCTCTCCGCCCGCGTCCGGCTCGTGGCCCCCTACTTCGGGCACCATGGACACCTCCCGGCTCGGTGTGCTCCTGTCCTTGCCTGTGCTGCTGCAGCTGGCGACCGGGGGCAGCTCTCCCAGGTCTGGTGTGTTGCTGAGGGGCTGCCCCACACACTGTCATTGCGAGCCCGACGGCAGGATGTTGCTCAGGGTGGACTGCTCCGACCTGGGGCTCTCGGAGCTGCCTTCCAACCTCAGCGTCTTCACCTCCTACCT___AGACCTCAGTATGAACAACATCAGTCAGCTGCTCCCGAATCCCCTGCCCAGTCTCCGCTTCCTGGAGGAGTT___ACGTCTTGCGGGAAACGCTCTGACATACATTCCCAAGGGAGCATTCA)CTGGCCTTTACAGTCTTAAAGTTCT___TATGCTGCAGAATAATCAGCTAAGACACGTACCCACAGAAGCTCTGCAGAATTTGCGAAGCCTTCAATCCCTGT|CCAAACAAGGTCTACGTATTGCATTTGATAGATAATATCTCTTTTCAATTCCCCTCCTAAATCTGCCTTTTAAAAAATTTCCCACATTCTCAGTTTGGCTGATTGCTTCCTCATCTTGTCATTTAACAATTTCCTCTTTCTCT MDTSRLGVLLSLPVLLQLATGGSSPRSGVLLRGCPTHCHCEPDGRMLLRVDCSDLGLSELPSNLSVFTSYLDLSMNNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSl|skqglriafdr* 11CO079 ENSG00000163611.11 ENSG00000166147.14 -/- -/- chr3:113506509 chr15:48412667 CDS/splice-site CDS translocation 2 0 0 54 69 medium out-of-frame . . . . ENSG00000163611.11 ENSG00000166147.14 ENST00000295872.8 ENST00000316623.10 upstream downstream . ^(AA)CCTGTGGCGCGCTCCGCGGTTCCGGCGCCTGAAGTTTTAGCTGCGGTGGCGGCGGCAGTCGGGACCGACTGCAAG___ATGTCATTTGTCAGAGTGAACCGCTGTGGTCCCCGAGTTGGTGTAAGAAAGACACCGAAAGTAAAGAAGAAGAAAACTTCAGTGAAACAAGAATGGG|CTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCCTCCAATATCGAG___GATCAGTCTGAGACAGA(AGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAGACAGCCATCTTTGCTTTCAATATTTCCCACGTCAGTAACAAGGTTCGAATCCTAGAACTCCTTCCAGCTCTTACAACTCTGACGAATCACAACAGATACTTGATCGAATCTGGAAATGAAGATGGCTTCTTTAAAATCAACCAAAAGGAAGGGATCAGCTACCTCCACTTCACAAAGAAGAAGCCAGTGGCTGGAACCTATTCATTACAAATCAGTAGTACTCCACTTTATAAAAAGAAAGAACTTAACCAACTAGAAGACAAATATGACAAAGACTACCTCAGTGGTGAACTGGGTGATAATCTGAAGATGAAAATCCAGGTTTTGCTTCATTAATTCACCATCCAGAGACCAAATAATTAAAAGAAAAACAAATATAGATAGGTAGAACTATATTTTCCCCCAATCAGAATCATCATATCATAGGTACAATCTTTCACCAAGTAAATTTGTATAAATAAGCACTATTCTTTGTATTACCAAAGCAAGGTACAGGTGACTACCCTAGTTCAAAACAACCACTTTCTCAGGCTTCTCATGTGTGTAGCTAAGCTACCTTGTCATATGTGTTGATTCTTGAAAACTGGGACGTGTATTTCCATTGGGGGTTGGCCATTTATGCTGACATGCCATCCTTCCAGCAAACGTACGGGAATGTGCTTTCAATTGATGGACTACTCTATTTTTTGCAAATTTGTAAACTTTGCTTCTCCAAATACAAGTACTAGGTTGTCCATTTATGGTACCTATTTGGTGCTAGTAAATTTTCAAACTAGATTTATAAATGCACTGTAATATGTACACAACTTAGAAACCAAATTACAAGTATTCAGTTCCAATACTTCATTAATTTCAATCAACCAAAGTTAGTTCAGTAGCTTATCTCAGTTATGAGTATAATACATTACATGTAAATTAAGTGTGTGTATACTGTAATCGTGCTATTTTTTATCATTGAAACATTTATAAACTAGAATAATAATGCCCTTAATGTGAGGGTTTGTAATGGTGCTTATTAAGACCAAAGACTTGTTAAATGTATACACCAAGTGGTAATGAAATTTCGGTGACTGGCCCACACGTGCATAGAGGTCTGGGAGGACCAGGAAACAGCCTCAGTGGCCAGAGGATCACCAGTGCATCCTTCATCACAGCATGTGCAATATGCCAAGATTACCCTCGGTCATTCCTGTCAACAAGGGGTCAATGTCATAAATGTCACAATAAAACAATCTCTTCTTTTTTTTAGTTTACCCCTTGGCTTTGTGTTCTTGCATGGATTTGGGGTTGGAGGGGCCATTCCGGAGGCTAAATAAAGTCTCCTGGATTTAAATTATCCTGGGTCTCTTACTTATGGCTTATGAAAGTACCAAATGTATAACCACTAGAAGAAAATTTAACATATGAGTCGATCCCTTGTTTTATCCATTGAAAGTAGCAGAGTCTGGTGTCATTAACCTGACTTGCTTGTGAGAAATTTAGATTGTAGAGTCATTTCTGAAACATGACCTAATTCATCTTGTGACTTTTAAATAGTCTTAAATACCAAGTTCAGTCATTGTCTTAGAGCACATGAATTTCATTATAATAGATTTATCATGCCCCCCTCTCAAATATACACAGTTTTGGCAAGCCTTAGGTGTTCTGTTCCATTTTTTTTTCCCCTAAACATCTTTCGTTAGTCAATGCTCATCTAATTACAAAGGGATAATCCCAGACTGTATCCAATTGCTGTAACTTTTGGTTTCTTAATGTCATAATTTTTAAAGTCTGTTTTATTTTAAGTGCAATATTGAGTATTTAGCTGTTAGGCTCAATCCGTCGATATGAAATAATTTTTTAAATCCCTAAGGGCAGGAAAGCATTTCGTGGTAGTGAAAATAAGAGGAAATAAGATGGCATGAAGGTGGTGGGCGGAGAAACTAGGTAGGACACAGGAAAGTGCTCTCAAAAATCTTTGAAGAGCTCAGCTGAAAAAAATGGAGTAGATTTGGCTCATACTATTCCGGAAGGCAAAACCAGGGTCAGCTGATGTCAGCCCCAGTTTAATACACACGGTCCCAATTATAGAGCTACTCACTGAAAGAATGGGTTTCCTTGCATTGTGGTGAGCTCCCTGTCACAAGATAGAAGAGTTTCAGTCTAGGCTTAATGGCAACCATTGGACAAAGATGCTTTCTTCCACCTAACAGGCCATTAACATCTTAAAGGTATTTTTGTATCTCTAATTTTGTTTATAATAGGTGCTCAACAGAATGAGCTGAATGGCTGTTACAAAGGGGGTTTGTACCTTGGGTAAGAGATTAAAATATAACTCAAAATTTCCTTCTAACGCTGCACCTATGGAACCATGTGATAGAGGTGTATTAAAATTGTTATCGAAGAATATATAGCATATGGTAAACAACAGTTTGCATATGGAAAATGTCTTTGATAATTTAACCAGAACTGCATTATATTCAATAACGGATTTTCTTTATAACAAACAACAGGGGAAAATGGAGTTGGCACACAGTGGATCACTTTGATATTTTTAATAGTCCAAGTCTGGATTTTATTTATTCCTGAGCCAACAATTTTGAACAGCATATTTTCCATGTTTCTGACTGTAACAAAACATTTTCCTCATTGTTCCATTGTAAATATTCCTCTTGTTGGAACTCTTTTTAATCCTGAGATTTAAACCTGTACCTTTCAATTGTCTGTGACCTTTCAATTTCACTTTCAATAGTTGAAGAACTTGGCTTTGTAAATCTCTCAGAAGCTTGAAAATATCTTGTCTCTACCCCCTCAGCCCATTTCATTTGCCAATAATTATTTTGTAAGTAGGGTTGAAATGAACTCAGCTGGCCTTGTGAAATGTTTAAACTTGCACAAACAACTACATTTTTGTTCAACAAATAGCAGTTTACTCAGCCAAAATCACTTTGGATATTGCCATTACAAATACTGTTAAACTTCAGAAATCATGTCTGTAAATTAGATGAGCCAAAATAAAGGACAATTGGGTTGA)$ MSFVRVNRCGPRVGVRKTPKVKKKKTSVKQEW|alprgllrv* 11CO079 ENSG00000139292.13 ENSG00000285508.1 +/+ -/- chr12:71535188 chr20:10417992 intron intron translocation 0 2 0 37 3 medium out-of-frame . Leucine_rich_repeat(100%),Leucine_rich_repeat_N-terminal_domain(100%)| . . ENSG00000139292.13 ENSG00000285508.1 ENST00000266674.10 . downstream downstream . ^(GCTCCACACCGCTCAGGCCGCGAGCAGCAGCAAGGCGCACCGCCACTGTCGCCGCTGCAGCCAGGGCTGCTCCGAAGGCCGGCGTGGCGGCAACCGGCACCTCTGTCCCCGCCGCGCTTCTCCTCGCCGCCCACGCCGTGGGGTCAGGAACGCGGCGTCTGGCGCTGCAGACGCCCGCTGAGTTGCAGAAGCCCACGGAGCGGCGCCCGGCGCGCCACGGCCCGTAGCAGTCCGGTGCTGCTCTCCGCCCGCGTCCGGCTCGTGGCCCCCTACTTCGGGCACCATGGACACCTCCCGGCTCGGTGTGCTCCTGTCCTTGCCTGTGCTGCTGCAGCTGGCGACCGGGGGCAGCTCTCCCAGGTCTGGTGTGTTGCTGAGGGGCTGCCCCACACACTGTCATTGCGAGCCCGACGGCAGGATGTTGCTCAGGGTGGACTGCTCCGACCTGGGGCTCTCGGAGCTGCCTTCCAACCTCAGCGTCTTCACCTCCTACCT___AGACCTCAGTATGAACAACATCAGTCAGCTGCTCCCGAATCCCCTGCCCAGTCTCCGCTTCCTGGAGGAGTT___ACGTCTTGCGGGAAACGCTCTGACATACATTCCCAAGGGAGCATTCA)CTGGCCTTTACAGTCTTAAAGTTCT___TATGCTGCAGAATAATCAGCTAAGACACGTACCCACAGAAGCTCTGCAGAATTTGCGAAGCCTTCAATCCCTGT|CCAAACAAGGTCTACGTATTGCATTTGATAGATAATATCTCTTTTCAATTCCCCTCCTAAATCTGCCTTTTAAAAAATTTCCCACATTCTCAGTTTGGCTGATTGCTTCCTCATCTTGTCATTTAACAATTTCCTCTTTCTCT MDTSRLGVLLSLPVLLQLATGGSSPRSGVLLRGCPTHCHCEPDGRMLLRVDCSDLGLSELPSNLSVFTSYLDLSMNNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSl|skqglriafdr* 11CO079 ENSG00000133030.21 ENSG00000205309.14 +/+ +/+ chr17:17042971 chr17:17306543 CDS/splice-site CDS/splice-site deletion/read-through 1 1 0 76 8 medium in-frame . . . . ENSG00000133030.21 ENSG00000205309.14 ENST00000651222.1 ENST00000616989.1 downstream upstream duplicates(1),mismatches(1) ^(CGCGGCCGCGCTGAGCCCCTAGCCCGCCGGGAGCGCCAGGCCGGCCAGGCCTGCGCCGC)CGCCGCCGCCGCCGTCGCCGCCGCGCCGcCCATGTCGGCAGCCAAGGAGAACCCGTGCAGGAAATTCCAGGCCAACATCTTCAACAAGAGCAAGTGTCAGAACTGCTTCAAGCCCCGCGAGTCGCATCTGCTCAACGACGAGGACCTGACGCAG|GAGAAGGCCATCAGCATTTGGGAGTCAAAGAATTTCTTTTTTGAACTTGAGCCTCTGCCAGGGGCCGTGGAAGCTGTCAAGGAGATGGCCAGCCTACAAAA___TATGCCTGGG(TGGAGAAGTACTTTGGCCCTGACTTTCTGGAGCAGATTGTGCTGACCAGAGACAAGACCGTGGTCTCTGCTGACCTTCTCATAGACGACCGGCCGGACATCACAGGCAAGTGGCCTGCGACAG___GGGCCGAGCCAACCCCCAGCTGGGAGCATGTCCTCTTCACCGCCTGCCACAACCAGCACCTGCAGCTGCAGCCCCCCCGCCGCAGGCTGCACTCGTGGGCGGACGACTGGAAGGCCATTCTGGACAGCAAGCGGCCCTGCTGAGCTGGACTGTGCTTCGGGCTCCTCTGTGGGGCTCTGACCTCAGGGCTCCCAGCTCGGGGCCTGTGGGGCCAGTATGCTGGTCTGGGAGTCCCTCCTAGACTCCTGGGCCCCATGACCTCCTGCTGCATGTCCCTTCCCTTCCCCAGCCCTGCCAGGCCTTAACCTGATCACGGGGCAGGGCTGGGCCCTCTGGGCGCTTGGACATAGACACGTGGTCCCAGGCCGTTCAGCCTGACCTCAGGCAGCAGGCACCAAGCTGCCAGAAGCCCAGGGGCTCAGGACAGGGAGGAGTTGAGGCCACTGTTCAGGGGGCTGGTGGCCGTCTCCACTCCCTAGGCAAGTTCTCTGAGGCAGAAGGGGGTTCCCTGTTCCCAGAGTCTGCAGCCATCAGCAAGGAGGACCAGGAACCCGGCGACTGAGGTGCTTCCAGGTGGGGACAAGCCCCTCTTGGTCTCAGCCACAGCACCCCTTATTCCAGCTGCCCTGCCCAACCTGCTCACCCCACATGACCTTCTGTGTATTCAGCAAACACTCACTAGGTGACAGCGGCCACCAGGCTCTGTGCTGGGGGACGATACTGGCCCTGGCCTCGACCAGCTTAGAGGTTTCTCACACCTCTGTTCCCAGGGCCCCGCTCAGGGCCCAGCAGAGAGTCCGTAGGCTTGAACATGTGTTGAGTGCATGAAAAATAAATGCTGTTCATGTGTGTAGCTC)$ MSAAKENPCRKFQANIFNKSKCQNCFKPRESHLLNDEDLTQ|EKAISIWESKNFFFELEPLPGAVEAVKEMASLQNMPGWRSTLALTFWSRLC* 14CO002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 24 1 53 76 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(3),mismatches(1) TCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGA(TGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14CO002 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 3 17 0 17 29 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) GGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGG(GATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 14CO002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 5 0 163 42 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAA)ATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 14CO002 ENSG00000132600.16 ENSG00000103018.17(91920),ENSG00000260108.1(91920) +/+ ./- chr16:68348431 chr16:69558184 CDS/splice-site intergenic inversion 10 2 1 43 21 high out-of-frame . Ribosomal_protein_L11_methyltransferase_(PrmA)(100%)| . . ENSG00000132600.16 . ENST00000339507.9 . downstream downstream mismatches(1) ^(CTTTGGGGTTCTGTGTGCAGCGAGCATGGTGTCCTTGGCACCAGGGTTTCGGCAGAGGAGCCTAGCGTGGGCCTACTTGGACTCCTCCGCGTGGGGCAGCTCGGGACACCCGGGCCTGCAGGAGAGCGGGGTTCTAGGCTGGCCCCGGCTCTGCAGTGCAGCCGGGTGCCTGCCACTCGCGGGGCTCTGTCGCAGTACTCGTGCCTGGCGCCTCCCCTCAGCCACAGAGACCGCAGTAGCTCCAACCATCGCACCCCTAACTGGGCCACGAGTTCTCTGATTGCCAGACCTGTTGTCTTTGCCACTCACTGTTCTGAGTAATTGGAGAGTCGTGTATTCACTACACGCCAACCAGAGTGGTCCTGTAAAAGCGTAAGCCTAGTGTAGATACGCTTCTGCTTAAAACTCTTGAGTGGCTCCCAGTGCTTTTAGAACAAAATCCAAACGCCTTTCCGAAGTCGACAAGGCCCAGCTTGATTGAGCAGAAGATGTGATAGGAGATGAGGAGCGGGGGGCTTCTGCAAAAGTGCTTCGGTCGCTCAGGCTTTTGGCACATTTTGCTTATGCAACCTAGTTCTTTCTACCTTAGGGCCTTTTCTTGGGAAAGTTGGG___AGTCTCACTCTGCTGCCTAGGCTGAGTGCAGTGGTGTGATCGAGGCGCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCACCTCGGCCTACCGAGTAGCTGGGACTACAGGCACGCGCCACTACACTCGG___ATTTCTGACAGTCAGACTTGTCCACAAGAACTCAACTGGCAAGGCTGCTTTTCTGTGCTAAAACTGGGGAGCTAGTGGGCACCATGAAGATCTTCTGCAGTCGGGCCAATCCGACCACGGGGTCTGTGGAGTGGCTGGAGGAGGATGAACACTATGATTACCACCAGGAGATTGCAAG___GTCATCTTATGCAGATATGCTACATGACAAAGACAGA___AATGTAAAATACTACCAAGGTATCCGGGCTGCCGTGAGCAGGGTGAAGGACAGAGGACAGAAGGCCTTGGTTCTCGACATTGGCACTGGCACGGGACTCTTGTCAATGATGGCGGTCACAGCAGGTGCCGACTTCTGCTATGCCATCGAG___GTTTTCAAGCCTATGGCTGATGCTGCTGTGAAGATTGTGGAGAAAAATGGCTTTAGTGATAAGATTAAGGTTATCAACAAGCATTCCACCGAGGTGACTGTAGGTCCAG___AGGGTGACATGCCATGCCGTGCCAACATCCTGGTCACAGAGTTGTTTGACACAGAGCTGATCGGGGAGGGGGCGCTGCCCTCCTATGAGCACGCACACAGGCATCTCGTGGAG___GAAAATTGTGAGGCCGTGCCCCACAGAGCCACCGTCTATGCACAGCTGGTGGAGTCCGGGAGGATGTGGTCGTGGAACAAGCTATTTCCCATCCACGTGCAGACCAGCCTCGGAGAGCAGGTCATCGTCCCTCCCGTTGACGTGGAGAGCTGCCCTGGCGCACCCTCTGTCTGTGACATTCAGCTGAACCAGGTGTCACCAGCCGACTTTACAGTCCTCAGCGATGTGCTGCCCATGTTCAG___CATAGACTTCAGCAAGCAAGTCAGTAGCTCAGCAGCCTGCCATAGCAGGCGGTTTGAACCTCTGACATCTGGCCGAGCTCAGGTGGTTCTCTCGTGGTGGGACATTGAAATGGACCCTGAGGGGAAGATCAAGTGCACCATGGCCCCCTTCTGGGCACACTCAGACCCAGAGGAGATGCAG___TGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAG___CCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCC)CCGTGTGTGACTGCCAGGCTCACCTGCaCTGGAACCGGCCTCGGTTTGGAGAGATCAAaGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACC___GTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAG___GTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAA___ATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAG|GTTGAAATATAATCCTCAGACCAGGCATGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGAGGATTGCTTGAAGCCAAAAGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCACCTCTATTAAAAAAAAAAATTAAAATATTAGCC MKIFCSRANPTTGSVEWLEEDEHYDYHQEIARSSYADMLHDKDRNVKYYQGIRAAVSRVKDRGQKALVLDIGTGTGLLSMMAVTAGADFCYAIEVFKPMADAAVKIVEKNGFSDKIKVINKHSTEVTVGPEGDMPCRANILVTELFDTELIGEGALPSYEHAHRHLVEENCEAVPHRATVYAQLVESGRMWSWNKLFPIHVQTSLGEQVIVPPVDVESCPGAPSVCDIQLNQVSPADFTVLSDVLPMFSIDFSKQVSSSAACHSRRFEPLTSGRAQVVLSWWDIEMDPEGKIKCTMAPFWAHSDPEEMQWRDHWMQCVYFLPQEEPVVQGSALYLVAHHDDYCVWYSLQRTSPEKNERVRQMRPVCDCQAHLhWNRPRFGEIkDQDRTDRYVQALRTVLKPDSVCLCVSDGSLLSVLAHHLGVEQVFTVESSAASHKLLRKIFKANHLEDKINIIEKRPELLTNEDLQGRK|vei* 14CO002 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 15 15 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCC(ACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 14CO002 ENSG00000244194.3(8498),ENSG00000163734.4(16215) ENSG00000163735.7 ./- -/- chr4:74020374 chr4:73998338 intergenic CDS/splice-site deletion/read-through 11 30 0 62 1223 medium . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . . ENSG00000163735.7 . ENST00000296027.5 upstream downstream low_entropy(2) GGTAAATTCACTAGAGTGAATTCAAGACAATATGGGGACTGAAGTCACATCCTGCAGCTACATGGAACCTGAGAATGGAGCCAGCACTAGAG|CTGGTCCTGCCGCTGCTGTGTTGAGAGAGCTGCGTTGCGTTTGTTTACAGACCACGCAgGGAGTTCATCCCAAAATGATCAGTAATCTGCAAGTGTTCGCCATAGGCCCACAGTGCTCCAAGGTGGAAGTGGT___AGCCTCCCTGAAGAACGGGAAGGAAATTTGTCTTGATCCAGAAGCCCCTTTTCTAAAGAAAGTCATCCAGAAAATTTTGGACGG___TGG(AAACAAGGAAAACTGATTAAGAGAAATGAGCACGCATGGAAAAGTTTCCCAGTCTTCAGCAGAGAAGTTTTCTGGAGGTCTCTGAACCCAGGGAAGACAAGAAGGAAAGATTTTGTTGTTGTTTGTTTATTTGTTTTTCCAGTAGTTAGCTTTCTTCCTGGATTCCTCACTTTGAAGAGTGTGAGGAAAACCTATGTTTGCCGCTTAAGCTTTCAGCTCAGCTAATGAAGTGTTTAGCATAGTACCTCTGCTATTTGCTGTTATTTTATCTGCTATGCTATTGAAGTTTTGGCAATTGACTATAGTGTGAGCCAGGAATCACTGGCTGTTAATCTTTCAAAGTGTCTTGAATTGTAGGTGACTATTATATTTCCAAGAAATATTCCTTAAGATATTAACTGAGAAGGCTGTGGATTTAATGTGGAAATGATGTTTCATAAGAATTCTGTTGATGGAAATACACTGTTATCTTCACTTTTATAAGAAATAGGAAATATTTTAATGTTTCTTGGGGAATATGTTAGAGAATTTCCTTACTCTTGATTGTGGGATACTATTTAATTATTTCACTTTAGAAAGCTGAGTGTTTCACACCTTATCTATGTAGAATATATTTCCTTATTCAGAATTTCTAAAAGTTTAAGTTCTATGAGGGCTAATATCTTATCTTCCTATAATTTTAGACATTCTTTATCTTTTTAGTATGGCAAACTGCCATCATTTACTTTTAAACTTTGATTTTATATGCTATTTATTAAGTATTTTATTAGGAGTACCATAATTCTGGTAGCTAAATATATATTTTAGATAGATGAAGAAGCTAGAAAACAGGCAAATTCCTGACTGCTAGTTTATATAGAAATGTATTCTTTTAGTTTTTAAAGTAAAGGCAAACTTAACAATGACTTGTACTCTGAAAGTTTTGGAAACGTATTCAAACAATTTGAATATAAATTTATCATTTAGTTATAAAAATATATAGCGACATCCTCGAGGCCCTAGCATTTCTCCTTGGATAGGGGACCAGAGAGAGCTTGGAATGTTAAAAACAAAACAAAACAAAAAAAAACAAGGAGAAGTTGTCCAAGGGATGTCAATTTTTTATCCCTCTGTATGGGTTAGATTTTCCAAAATCATAATTTGAAGAAGGCCAGCATTTATGGTAGAATATATAATTATATATAAGGTGGCCACGCTGGGGCAAGTTCCCTCCCCACTCACAGCTTTGGCCCCTTTCACAGAGTAGAACCTGGGTTAGAGGATTGCAGAAGACGAGCGGGAGCGGGGAGGGCAGGGAAGATGCCTGTCGGGTTTTTAGCACAGTTCATTTCACTGGGATTTTGAAGCATTTCTGTCTGAATGTAAAGCCTGTTCTAGTCCTGGTGGGACACACTGGGGTTGGGGGTGGGGGAAGATGCGGTAATGAAACCGGTTAGTCAGTGTTGTCTTAATATCCTTGATAATGCTGTAAAGTTTATTTTTACAAATATTTCTGTTTAAGCTATTTCACCTTTGTTTGGAAATCCTTCCCTTTTAAAGAGAAAATGTGACACTTGTGAAAAGGCTTGTAGGAAAGCTCCTCCCTTTTTTTCTTTAAACCTTTAAATGACAAACCTAGGTAATTAATGGTTGTGAATTTCTATTTTTGCTTTGTTTTTAATGAACATTTGTCTTTCAGAATAGGATTCTGTGATAATATTTAAATGGCAAAAACAAAACATAATTTTGTGCAATTAACAAAGCTACTGCAAGAAAAATAAAACATTTCTTGGTAAAAACGTATGTATTTATATATTATATATTTATATATAATATATATTATATATTTAGCATTGCTGAGCTTTTTAGATGCCTATTGTGTATCTTTTAAAGGTTTTGACCATTTTGTTATGAGTAATTACATATATATTACATTCACTATATTAAAATTGTACTTTTTTACTATGTGTCTCATTGGTTCATAGTCTTTATTTTGTCCTTTGAATAAACATTAAAAGATTTCTAAACTTCA)$ . 14CO002 ENSG00000115641.19 ENSG00000115457.10 -/- +/+ chr2:105373559 chr2:216660557 CDS/splice-site CDS/splice-site inversion 2 2 0 544 991 medium in-frame . LIM_domain(100%)|Thyroglobulin_type-1_repeat(100%) . . ENSG00000115641.19 ENSG00000115457.10 ENST00000393352.7 ENST00000233809.9 upstream upstream . ^(CAGCTGCACAGAAGGTTGGGGCCATCCAACCAGGCAGTCCGCCTGCACAGCAGCTGTCCCTGCTCATCGGGCTGGAGGACAGAAGACAGAACCCTAAAACCACAG___GTTGCTGAAAAGCCAGGAGTCAAAATGACTGAGCGCTTTGACTGCCACCATTGCAACGAATCTCTCTTTGGCAAGAAGTACATCCTGCGGGAGGAGAGCCCCTACTGCGTGGTGTGCTTTGAGACCCTGTTCGCCAACACCTGCGAGGAGTGTGGGAAGCCCATCGGCTGTGACTGCAAG___GACTTGTCTTACAAGGACCGGCACTGGCATGAAGCCTGTTTCCA)CTGCTCGCAGTGCAGAAACTCACTGGTGGACAAGCCCTTTGCTGCCAAGGAGGACCAGCTGCTCTGTACAGACTGCTATTCCAACGAGTACTCATCCAAGTGCCAGGAATGCAAGAAGACCATCATGCCAG|ACAATGGCGATGACCACTCAGAAGGAGGCCTGGTGGAGAACCACGTGGACAGCACCATGAACATGTTGGGCGGGG(GAGGCAGTGCTGGCCGGAAGCCCCTCAAGTCGGGTATGAAGGAGCTGGCCGTGTTCCGGGAGAAGGTCACTGAGCAGCACCGGCAGATGGGCAAGGGTGGCAAGCATCACCTTGGCCTGGAGGAGCCCAAGAAGCTGCGACCACCCCCTGCCAGG___ACTCCCTGCCAACAGGAACTGGACCAGGTCCTGGAGCGGATCTCCACCATGCGCCTTCCGGATGAGCGGGGCCCTCTGGAGCACCTCTACTCCCTGCACATCCCCAACTGTGACAAGCATGGCCTGTACAACCTCAAACAG___TGCAAGATGTCTCTGAACGGGCAGCGTGGGGAGTGCTGGTGTGTGAACCCCAACACCGGGAAGCTGATCCAGGGAGCCCCCACCATCCGGGGGGACCCCGAGTGTCATCTCTTCTACAATGAGCAGCAGGAGGCTCGCGGGGTGCACACCCAGCGGATGCAGTAGACCGCAGCCAGCCGGTGCCTGGCGCCCCTGCCCCCCGCCCCTCTCCAAACACCGGCAGAAAACGGAGAGTGCTTGGGTGGTGGGTGCTGGAGGATTTTCCAGTTCTGACACACGTATTTATATTTGGAAAGAGACCAGCACCGAGCTCGGCACCTCCCCGGCCTCTCTCTTCCCAGCTGCAGATGCCACACCTGCTCCTTCTTGCTTTCCCCGGGGGAGGAAGGGGGTTGTGGTCGGGGAGCTGGGGTACAGGTTTGGGGAGGGGGAAGAGAAATTTTTATTTTTGAACCCCTGTGTCCCTTTTGCATAAGATTAAAGGAAGGAAAAGTAAA)$ MTERFDCHHCNESLFGKKYILREESPYCVVCFETLFANTCEECGKPIGCDCKDLSYKDRHWHEACFHCSQCRNSLVDKPFAAKEDQLLCTDCYSNEYSSKCQECKKTIMP|dNGDDHSEGGLVENHVDSTMNMLGGGGSAGRKPLKSGMKELAVFREKVTEQHRQMGKGGKHHLGLEEPKKLRPPPARTPCQQELDQVLERISTMRLPDERGPLEHLYSLHIPNCDKHGLYNLKQCKMSLNGQRGECWCVNPNTGKLIQGAPTIRGDPECHLFYNEQQEARGVHTQRMQ* 14CO002 ENSG00000189077.11 ENSG00000233123.1(10312),ENSG00000106436.7(34042) -/- ./- chr7:75987360 chr7:101579288 CDS/splice-site intergenic duplication 0 2 0 163 3 medium out-of-frame . TMPIT-like_protein(100%)| . . ENSG00000189077.11 . ENST00000493111.7 . upstream downstream . ^(ACTACTGGCTACTGGCGCTGCAGCCATGCAGCCCCCGCCCCCGGGCCCGCTGGGCGACTGCCTGCGGGACTGGGAGGATCTACAGCAGGACTTCCAGAACATCCAG___GAGACCCATCGGCTCTACCGCCTGAAGCTGGAGGAGCTGACCAAACTTCAGAACAATTGCACCAGCTCCATCACGCGGCAGAAGAAGCGGCTCCAGGAGCTGGCCCTCGCCCTGAAGAA___ATGCAAACCCTCCCTCCCAGCAGAGGCCGAGGGGGCCGCACAGGAGCTGGAGAACCAGATGAAAGAGCGCCAAGGCCTCTTCTTTGACATGGAGGCCTATTTGCCTAAGAAGAATGG___ATTGTACCTGAGCCTGGTTCTGGGGAACGTCAACGTCACGCTCCTGAGCAAGCAGGCTAA___GTTTGCCTACAAGGACGAGTATGAGAAGTTCAAGCTCTACCTCACCATCATCCTCATCCTCATCTCCTTCACTTGCCGCTTCCTGCTCAACTCCAG___GGTGACAGATGCTGCCTTCAACTTCCTGCTGGTCTGGTACTACTGCACCCTGACCATCCGGGAGAGCATCCTCATCAACAACGGCTCCCG___GATCAAAGGCTGGTGGGTGTTCCATCACTACGTGTCCACCTTCCTGTCGGGAGTCATGCTGACGTG___GCCCGACGGTCTCATGTACCAGAAATTCCGGAACCAATTCCTCTCCTTTTCCATGTACCAGA___GCTTCGTGCAGTTTCTCCAGTACTACTACCAGAGCGGCTGCCTCTACCGCCTGCGGGCGCTGGGCGAGCGGCACACCATGGACCTCACTGTGG___AGGGCTTCCAGTCCTGGATGTGGCGGGGCCTCACCTTCCTGCTGCCTTTTCTTTTCTTTGGACAC___TTCTGGCAGCT)TTTTAACGCGCTGACGTTGTTCAACCTGGCCCAGGACCCTCAGTGCAAGGAGTGGCAG|GGGCAGGAAGAGTGTTCTTTGATGTTCCCTGAAGAGGAAATGGCATGTGCAACGGAAAATCCCAGGAGAAATGGGAGAGTGATTGGATATTAGGAGAGAAAAGACAAAAACACTAGAGGGTCAACCTACGAGGAGACATCCATTGAAAATGAGTTTCAGAAGAGAAGAGAGCAAATGGAG MQPPPPGPLGDCLRDWEDLQQDFQNIQETHRLYRLKLEELTKLQNNCTSSITRQKKRLQELALALKKCKPSLPAEAEGAAQELENQMKERQGLFFDMEAYLPKKNGLYLSLVLGNVNVTLLSKQAKFAYKDEYEKFKLYLTIILILISFTCRFLLNSRVTDAAFNFLLVWYYCTLTIRESILINNGSRIKGWWVFHHYVSTFLSGVMLTWPDGLMYQKFRNQFLSFSMYQSFVQFLQYYYQSGCLYRLRALGERHTMDLTVEGFQSWMWRGLTFLLPFLFFGHFWQLFNALTLFNLAQDPQCKEWQ|gqeecslmfpeeemacatenprrngrvigy* 14CO003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 25 14 1 47 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 low_entropy(3) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCA(TCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14CO003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 16 0 23 87 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) CAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCC(CAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 14CO003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 6 0 161 28 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCG)TGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 14CO003 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 1 9 0 19 22 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream duplicates(1),mismatches(1) CCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGG(ATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 14CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 24 15 0 43 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(1),low_entropy(1),mismatches(1) TTCAT___...TGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14CO005 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 14 12 3 40 42 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),mismatches(2) GGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGAC(CTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 14CO005 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 12 9 0 39 32 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) AAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGC(TCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 14CO005 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 7 10 0 19 37 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(1),mismatches(1) CGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGAC(AGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 14CO005 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 13 0 40 94 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1),mismatches(1) CGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC???GGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCT(GCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 14CO005 ENSG00000177565.18 ENSG00000146411.6 -/- -/- chr3:177032971 chr6:134029721 CDS/splice-site CDS/splice-site translocation 8 7 0 151 9 high out-of-frame . LisH(100%),WD_domain__G-beta_repeat(100%)|Sugar_(and_other)_transporter(100%) . . ENSG00000177565.18 ENSG00000146411.6 ENST00000457928.7 ENST00000275230.6 upstream downstream . ^(GAACCGTTTGGCTCTTTCCCTTAGTAACAGCTTTTACCTTCTGCCTCAATTCCTCTCCCCGCTCGCGCCCTTCCCCCGCGCGCCGCCTCCCCCCGCCGCCGGCCGCGTGCGCCCCCGCCCCTCCCCCCGCGGCGGGAGCACCTCCGCTCGCCACCTGGGGACCCGCGCCGCGCTCCCCGCCCCCGCCCGCCCGGCGCCCATCCCCCGCGCCCTCCGCTCGCTGGGGTTATAATTGCCTCTCACCCCCCGGAGGGGTTATTTTGGGGGTGGTTGGAGGCGGTGGCGGCGGCGGCGAGGAGGGGAATTTCCTTGTGCCTCCATTCCCGGGAGGGGGGAGCGGCGTTGGAGGCCACCGTTTCCAG___CATCAACAACAGCAACTTGTGATTGGCGGTGACCGGATATTCAGTTGCACATCCCCACATCAATGCACTGCCAATG___GGTTATATCCTGTGTTGTGACCTCATGGTTTAAGTGGGAATAAAGATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAG___GATTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATATCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTAGAAGCAGAAGTTAGTATTAATGAG___GATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAACAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAACAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAA___ATAATCATACTGATATGATGGAAGTGGATGGGGATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTTAGTGATCTCCTAGCATCAGG___GTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATTGTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAAT___AGTGAAGGTACACTTCTAGCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATG___GTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAATGGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAG___ACTACAATTATTTGGGACGCACATACTGGTGAAGCCAAGCAACAGTTTCCTTTTCATTCAG___CACCAGCATTGGATGTTGATTGGCAGAGCAACAACACCTTTGCTTCTTGTAGTACAGATATGTGCATTCATGTCTGTAAATTAGGACAAGACAGACCTATTAAAACATTCCAAGGACATACG___AATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAG___ATATGGAGTATGAAACAAGACAATTGTGTCCATGATTTGCAAGCACATAATAAAGAAATTTATACTATCAAATGGAGTCCAACAGGACCAGGGACTAATAA)TCCAAATGCCAACCTTATGTTAGCAAG___TGCATCCTTTGATTCTACTGTTAGGTTATGGGATGTAGACCGAGGGATATGCATCCATACCTTGACAAAACACCAAGAGCCTGTGTACAGTGTAGCTTTCAGTCCTGATGGCAGGTATCTGGCAAGTGGTTCTTTTGACAAATGTGTACACATCTGGAACACGCAG|GCTGCGGCATGTTTACCTTCCTGTCATCTGTCACTGCTGCTGTCAGTGGCCTCCTGGTGGGTTATGAACTTGGGATCATCTCTGGGGCTCTTCTTCAGATCAAAACCTTATTAGCCCTGAGCTGCCATGAGCAGGAAATGGTTGTGAGCTCCCTCGTCATTGGAGCCaTCCTTGCCTCACTCACCGGAGGGGTCCTGATAGACAGATATGGAAGAAGGACAGCAATCATCTTGTCATCCTG(CCTGCTTGGACTCGGAAGCTTAGTCTTGATCCTCAGTTTATCCTACACGGTTCTTATAGTGGGACGCATTGCCATAGGGGTCTCCATCTCCCTCTCTTCCATTGCCACTTGTGTTTACATCGCAGAGATTGCTCCTCAACACAGAAGAGGCCTTCTTGTGTCACTGAATGAGCTGATGATTGTCATCGGCATTCTTTCTGCCTATATTTCAAATTACGCATTTGCCAATGTTTTCCATGGCTGGAAGTACATGTTTGGTCTTGTGATTCCCTTGGGAGTTTTGCAAGCAATTGCAATGTATTTTCTTCCTCCAAGCCCTCGGTTTCTGGTGATGAAAGGACAAGAGGGAGCTGCTAGCAAGGTTCTTGGAAGGTTAAGAGCACTCTCAGATACAACTGAGGAACTCACTGTGATCAAATCCTCCCTGAAAGATGAATATCAGTACAGTTTTTGGGATCTGTTTCGTTCAAAAGACAACATGCGGACCCGAATAATGATAGGACTAACACTAGTATTTTTTGTACAAATCACTGGCCAACCAAACATATTGTTCTATGCATCAACTGTTTTGAAGTCAGTTGGATTTCAAAGCAATGAGGCAGCTAGCCTCGCCTCCACTGGGGTTGGAGTCGTCAAGGTCATTAGCACCATCCCTGCCACTCTTCTTGTAGACCATGTCGGCAGCAAAACATTCCTCTGCATTGGCTCCTCTGTGATGGCAGCTTCGTTGGTGACCATGGGCATCGTAAATCTCAACATCCACATGAACTTCACCCATATCTGCAGAAGCCACAATTCTATCAACCAGTCCTTGGATGAGTCTGTGATTTATGGACCAGGAAACCTGTCAACCAACAACAATACTCTCAGAGACCACTTCAAAGGGATTTCTTCCCATAGCAGAAGCTCACTCATGCCCCTGAGAAATGATGTGGATAAGAGAGGGGAGACGACCTCAGCATCCTTGCTAAATGCTGGATTAAGCCACACTGAATACCAGATAGTCACAGACCCTGGGGACGTCCCAGCTTTTTTGAAATGGCTGTCCTTAGCCAGCTTGCTTGTTTATGTTGCTGCTTTTTCAATTGGTCTAGGACCAA___TGCCCTGGCTGGTGCTCAGCGAGATCTTTCCTGGTGGGATCAGAGGACGAGCCATGGCTTTAACTTCTAGCATGAACTGGGGCATCAATCTCCTCATCTCGCTGACATTTTTGACTGTAACTG___ATCTTATTGGCCTGCCATGGGTGTGCTTTATATATACAATCATGAGTCTAGCATCCCTGCTTTTTGTTGTTATGTTTATACCTGAGACAAAGGGATGCTCTTTGGAACAAATATCAATGGAGCTAGCAAAAGT___GAACTATGTGAAAAACAACATTTGTTTTATGAGTCATCACCAAGAAGAATTAGTGCCAAAACAGCCTCAAAAAAGAAAACCCCAGGAGCAGCTCTTGGAGTGTAACAAGCTGTGTGGTAGGGGCCAATCCAGGCAGCTTTCTCCAGAGACCTAATGGCCTCAACACCTTCTGAACGTGGATAGTGCCAGAACACTTAGGAGGGTGTCTTTGGACCAATGCATAGTTGCGACTCCTGTGCTCTCTTTTCAGTGTCATGGAACTGGTTTTGAAGAGACACTCTGAAATGATAAAGACAGCCTTTAATCCCCCTCCTCCCCAGAAGGAACCTCAAAAGGTAGATGAGGTACAAGGTCCTAAGTGATCTCTTTTTCTGAGCAGGATATCAGGTTAAAAAAAAAAAGTTACTGGCTGGTTTAATACTTTCTACCTTCTTCACAGAGCAGCCTTTGAATAGACTATGTCCTAGTGAAGACATCAACCTCCGCCTTAAGCTATGTATGTATGGAGGCCAGTCGCAGCTTTATTATGCAGACACACAAGTGGTCTGGACATGAGGGTACAGTTTCTGCCTACCAAGACACTACTTGCACTGGATCTTACGCAAAAAAGAACCAGAACACACAGTGTGGACAACTGCCCATATATTCTATCTAGATTAGGAGAGGGTCCTGGCTAGGATTTTAGTGGTAATTCCTAGTTACATTCAACAAGTATAAAGATTATAGAGCTTATTTTATGAACTATAAACTATAATTTAATGCAAAATATCCTTTTATGAATTTCATGTTAATATTGTGAAATATTAAAATAATTCCACAATAGTTGAGAAAAATGAGCATTTTTTTCCATTTTTAAAAAATGCATAGAAAAGACAATTTTAAAATCCTGGGACCATATTTATTTAGAAGTAGCTGTTAGTAAAACATTAGAAAAGGAGTCAGGCCATTAGGTTATTTATCCAAATCTCTAAGCAATTAGGTTGAAGTTATTAAGTCAAGCCTAGAAAAGCTGCCTCCTTGTAAGGCTTTCATGACAATGTATAGTAATCCACAGTGTCCAATTCTTCACACTCCTCAGGAATATCACTACCTCAGGTTACGGTACACAGGCTATAATTGATGATGATGTTCAGATAACTGAAGACACAATAAATGACATTCAGACATCAGGACAATTCCCTCATGTTCTTTTCTATGATGGCCACCTGTACCAGCAACGTGGGTTTCACCCACACAACGATGAACTGTTCTCTTACTTCTCCAGTTGATTTTAAAGACTTGTTAAGAGGTCTTACTAATAAAATTTGGGTATGATAGAAAATCCACAATCAAATCTTGAACCAAATAACATATTAAATTACTAATATTTAAGTGATGGAAGACACACAAAAAACTTAAAAGCACGAACAACCTAACTTGAAAAAGAATTTTAAAATATGATTAACCTGAAGAAAAGAGAATCCTAAGAGCCAAAGCTCCTTTTTATTTAGCTTGGAATTTTCCTATTGGTTCCTAACAAACTGTCCCAATGTCATATAAGGAAACATGATCTATTACATTCCTTTATAACAATGTGGAGAGACTATAAACCTATGTAAGTAGTAAAACTATATCAGAGACTCAGGAGACTGACTAAAAGGCCTGGATCTGCAGTGTATTATCTGTATAAAAATTGGCAGGGGGAAGCTAAAAGGAAAGGAGATTGGAGATCTCAATTCTATCATGGTGTATTTCATACGCAAATCAGAGCATGCATTGTTTTTTGTTTTTGGAAAGAGAAGGGAAGTGTGTTCTGCCCCATGTTTCCTTCCGTGTTTATAGTTCAAACTCTATATATACTTCAGGTATTTTTTGTTTAGCCCTTCATTATAAATGGGCAGGAAATTGTTTATCAACCTAGCCAGTTTATTACTAGTGACCTTGACTTCAGTATCTTGAGCATTCTTTTATATTTTTCTTTTATTATCCTGAGTCTGTAACTAAACAATTTTGTCTTCAAATTTTTATCCAATATCCATTGCACCACACCAAATCAAGCTTCTTGATTTTCAAAAATAAAAAGGGGGAAATACTTACAACTTGTACATATATATTCACAGTTTTTATTTATAAAAAAAATTTACAGTACTTATGGAGAGCCAGCAGAAGACATCAGAGCACTCACTTCTTCCCATCTTTGTTAAGGTTAGCGAATTACCCATGGACACTGTTAGGTGAGGCTCATTCGGCAGCCCTGAAAACAAACCTGGTCACACTGTCTTTACCCTCTCCCTTCAGATAAAGCACTTCGATTATCTATTGATCTGCCCAGTTTTCAAGTCATGCGAATACTAAAAAGGTTACATCATCTGGATCTGTACCTTGGCTATATAAGCATGTTTTCCCCCTATTCTATGTTTCTTTTTTTGGTGAACATTGAAAAACAGGAGGTGACTTATTACTGTTAATTAAAACTAAATGAAAAATGTCAAGTCTTTAAAACAGTGAGCTTGTAACTCTTTCATGTAATTTTATTCTCTATGAATTTGGCTATCCTACTGAATCTTAAAATAAAGGAAATAAACACTTTTTTTTTAAAAAAAAGGAAAAATACAAGTCTAAAAATCTCAATGAAATATTTCACAAGAAGGAAAAATGTAAGTTAGCCTTTGCTTTCCACTTTGGAATAAGCAGGAGGTTAGGGAAGGCATTGAGAAGAAAAAAGATAAAAATAATATGTGTTGTTCAGTGCAGTGCCTAAGCTAGGTTTTCAAGATTTTATAATACAGTAAGGAAAATGTACTATATATGGAGATTAGGATGTTGCAATTTTTCCACAAAGGTTTAAAAACATTTTGGAAATACAAGTTTTTGTGGAACATTGTGTTGGAATATTGTCCCCATTAAGTTTCTCCTGAGAAGCTAATTGGACTCTCCACTCAGCTTTATTTCTAGGTATAATCACTGTTGGTTACACTAAACTCCTAAACCTAAATGACAGGGCACAACTACAGCTTGATCCTGTATTACCACATCAGGGCTCCTGGGTGAGCCAGAGACACTGTTTCATAAATGCATATTTATTATAACTTTAAGAGTAGCAATCTCATATACTGAATAGTCACTCTTTAACTCCATTAAATAAGATACAGCAAGGGGAAGGACAGTATCACACAAAATGGCTTTCAAATTCAAGTGGGGCTATTTGATAATTACACTGTGGCACAGAGGCAGCTTATGGGCACTTCTTGTTAAAACATCTCCATGTTACCAACTTCTGACAAGACTCTTAGTATAGGCTTGGGCATCAACCCAAGATTAAAGTCAAGAACCTCAATCACTTCTCTACAACTACAGGTGTTGAGTCTTTCCAGAAAAACAAAGGTCCAAATGAGGCACCATTCATCACAGCTTCTTTCTCATTTCCATCTAGTGGGTAAGAGGTTTCTCTTCTTAAAACTACAATTTCTTAACCTTTACAAGTTATTTAACATTTTCTATCATATTAAATTAGCAACATAAAACATTATCCTTTATCTATAAACTTCTAGTCTGGTTCCCTAGAGTTTATATACACGTTTTTATTTCTAATCTGCAAGAAAAAAAATTCCTATTTGTTATTTGGTAACAGAGCATTAAAAGATACTATACACATGTGGTGCATATATATATATATATATACACACACACACACACACACACACAAAATACACTTCAAAAAGAAGCCAACACACTTTAGCCAAAGTCTT)$ MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYVEAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPTGNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASFDSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQ|aaaclpschlslllsvaswwvmnlgsslglffrskpy* 14CO005 ENSG00000055917.15 ENSG00000237992.3 -/- +/- chr2:20307978 chr2:19491309 CDS/splice-site intron deletion/5'-5' 5 2 0 122 9 high out-of-frame . . . . ENSG00000055917.15 ENSG00000237992.3 ENST00000361078.6 . upstream downstream duplicates(1),mismatches(1) ^(GGGGGGAGGGGAGGGCAGGCGGCGGTGGCAGCCATGTTGTTGTGAGTCTCTGTGTCTCACCCTCGGTACTTCGGTGGTTCGGAGGAGGAGGGGGAGGAGAAGGAGGAGGTGGGGTGGGGGGGGAGGGTGGTAGGTGGAGAAAGAAGACATTGCCGCCACCGAAGGCGGAGGAGGGGGAGGACCGCCAAGAGCGACGCCGCCGTGTGCCCAACGGTCGGTGTCCCCGGCTGAGGCAGCGCGGCCGCAGCAGCCCT___GTTTGATCTGTGGATGAAATGAATCATGATTTTCAAGCTCTTGCATTAGAATCTCGGGGAATGGGAGAG___ACCATTCAATGTCCCAGCCTATTATGGTACAGAGAAGATCTGGACAGGGTTTTCATGGAAACAGTGAAGTAAATGCAATACTGTCTCCGCGATCAGAAAGTGGAGGCCTTGGTGTGAGCATGGTAGAATATGTATTAAGTTCTTCTCCTGCTGATAAATTGGATTCTCGATTTAGGAAGGGAAATTTT___GGCACTAGAGATGCTGAAACAGATGGACCTGAGAAAGGAGATCAAAAAGGCAAGGCTTCTCCATTTGAGGAGGACCAAAACAGAGATCTTAAACAAGGAGATGATGATGATTCTAAAATAAATGGCAGAGGTTTGCCAAATGGAATGGATGCCGATTGCAAAGATTTTAA___TCGTACTCCTGGAAGTCGTCAAGCCTCTCCAACTGAAGTAGTTGAGCGCTTGGGCCCCAATACTAATCCCTCAGAAGGACTGGGGCCTCTTCCTAATCCTACAGCTAATAAACC)ACTTGTTGAAGAATTTTCAAATCCTGAAACTCAGAATCTGGATGCCATGGAACAAGTTGGTCTGGAATCCTTACAGTTTGACTATCCTGGTAATCAGGTACCAATGGACTCTTCAGGAGCTACTGTAGGCCTTTTTGACTACAATTCCCAGCAGCAG___CTCTTTCAGAGGACTAATGCACTAACAGTTCAACAGTTAACTGCAGCTCAACAGCAGCAATATGCATTAGCAGCAGCTCAGCAGCCACATATAG|TCTTCCAGGGAGAAAGGAGCCTGACTGCTTAAGCACCCCTCCAGGCAGGATGGACAGCGGCTCCAAATATCTAACAGATGTCGTGCTGTACCTCAGGATGAATCTATTATTGATTCGGAACTCTTGCTCGGGTAACTTTTTGCCAGGTTTCCTTTCACACTTGTGATGAGGAAACGGATTGAACATCAGTAAGGGG MSQPIMVQRRSGQGFHGNSEVNAILSPRSESGGLGVSMVEYVLSSSPADKLDSRFRKGNFGTRDAETDGPEKGDQKGKASPFEEDQNRDLKQGDDDDSKINGRGLPNGMDADCKDFNRTPGSRQASPTEVVERLGPNTNPSEGLGPLPNPTANKPLVEEFSNPETQNLDAMEQVGLESLQFDYPGNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHI|vfqgerslta* 14CO005 ENSG00000055917.15 ENSG00000143867.7 -/- -/- chr2:20307978 chr2:19353837 CDS/splice-site 5'UTR/splice-site deletion 4 3 0 122 16 high out-of-frame . |C2H2-type_zinc_finger(100%) . . ENSG00000055917.15 ENSG00000143867.7 ENST00000361078.6 ENST00000272223.3 upstream downstream duplicates(2) ^(GGGGGGAGGGGAGGGCAGGCGGCGGTGGCAGCCATGTTGTTGTGAGTCTCTGTGTCTCACCCTCGGTACTTCGGTGGTTCGGAGGAGGAGGGGGAGGAGAAGGAGGAGGTGGGGTGGGGGGGGAGGGTGGTAGGTGGAGAAAGAAGACATTGCCGCCACCGAAGGCGGAGGAGGGGGAGGACCGCCAAGAGCGACGCCGCCGTGTGCCCAACGGTCGGTGTCCCCGGCTGAGGCAGCGCGGCCGCAGCAGCCCT___GTTTGATCTGTGGATGAAATGAATCATGATTTTCAAGCTCTTGCATTAGAATCTCGGGGAATGGGAGAG___ACCATTCAATGTCCCAGCCTATTATGGTACAGAGAAGATCTGGACAGGGTTTTCATGGAAACAGTGAAGTAAATGCAATACTGTCTCCGCGATCAGAAAGTGGAGGCCTTGGTGTGAGCATGGTAGAATATGTATTAAGTTCTTCTCCTGCTGATAAATTGGATTCTCGATTTAGGAAGGGAAATTTT___GGCACTAGAGATGCTGAAACAGATGGACCTGAGAAAGGAGATCAAAAAGGCAAGGCTTCTCCATTTGAGGAGGACCAAAACAGAGATCTTAAACAAGGAGATGATGATGATTCTAAAATAAATGGCAGAGGTTTGCCAAATGGAATGGATGCCGATTGCAAAGATTTTAA___TCGTACTCCTGGAAGTCGTCAAGCCTCTCCAACTGAAGTAGTTGAGCGCTTGGGCCCCAATACTAATCCCTCAGAAGGACTGGGGCCTCTTCCTAATCCTACAGCTAATAAACCACTTGTTGAAGAATTTTCAAATCCTGAAACTCAGAATCTGGATGCCATGGAACAAGTTGGTCTGGAATCCTTACAGTTTGACTATCCTGGT)AATCAGGTACCAATGGACTCTTCAGGAGCTACTGTAGGCCTTTTTGACTACAATTCCCAGCAGCAG___CTCTTTCAGAGGACTAATGCACTAACAGTTCAACAGTTAACTGCAGCTCAACAGCAGCAATATGCATTAGCAGCAGCTCAGCAGCCACATATAG|ATCCGGATTGAGAAGCCACTGCAACTACCGAAATGGGCAGCAAAACCTTGCCGGCGCCGGTGCCTATCCACCCTTCCCTGCAGCTCACCAACTACTCCTTCCTTCAGGCAGTGAACGGCCTGCCCACAGTGCCTTCGGACCATCTGCCCAACCTGTATGGTTTCAGCGCGTTGCACGCTGTGCACCTGCATCAGTG(GACGCTGGGCTACCCGGCCATGCACTTGCCGCGCTCTTCTTTCTCCAAAGTGCCGGGCACGGTGTCCAGCTTGGTGGATGCGCGCTTCCAGCTGCCCGCCTTTCCCTGGTTCCCTCATGTCATTCAACCCAAGCCCGAGATCACCGCTGGAGGCAGCGTTCCAGCGCTCAAGACCAAGCCGCGCTTTGATTTTGCCAACCTGGCCTTGGCAGCAACGCAAGAAGATCCGGCCAAGCTCGGTCGCGGGGAGGGCCCAGGCTCCCCTGCAGGTGGGCTGGGTGCCCTCCTCGACGTGACCAAGCTGTCTCCAGAAAAGAAGCCCACAAGGGGACGTCTGCCTTCCAAGACCAAGAAGGAATTCGTCTGCAAGTTCTGTGGCCGCCACTTCACCAAGTCCTACAACCTACTTATCCATGAGCGGACGCACACCGACGAGCGGCCCTACACCTGTGACATCTGCCACAAAGCCTTCCGGAGGCAAGACCACCTGCGAGACCACAG___ATATATTCACTCCAAAGAGAAGCCCTTCAAGTGTCAAGAGTGTGGGAAAGGATTCTGCCAGTCCAGGACTCTCGCTGTCCACAAGACGCTACACTCACAGGTGAAGGAGCTCAAAACCTCCAAGATCAAATGCTAAATAGAACCTGTGGGTCACAAGGACCCTAGGCCCAGCGGCCCTCTCCTCCATAGGGACCAGAAGCCTGACTCTGGCGGGCAGCGGGAGAGGCGCTCGCTCGGGACCTTCCACCTCTCCAACATTGTCCCCTGGGTCCCTGGCGCACGCGGCACTTCAGAGCCCCGCCCGGGGCCGCGACCCCGACCGTCCCTGCTGCTCCCCTAGGACGCGGCTAAACTCTTGGCCAAAAGGCGGTACTCACGTGGCGGAAGGGAAACTGCATTAAAAAAAGAACGAAAGCTCCGCGGAGCCGCAGCGGCGCCTCTCCCAGAAGTATTACTTTTTCTATTGTTATTTTATACGTTTTCTTTTTTATTTTTGTCTTTGACCATATAAGCTTGTAACTCTGACTGCGGAGAGTGAGTGGAGAGAGGAGAGGCAACGAAGTCCTTAGCACTGGCAGCTCCCACCTCCTCCTCCCGCCCCTGCCCCCACCCCCGGAGCCTGCAAAAGTGTAATCCCTGTATCTGCTTCAGCCTCCTGCCCTAGGGACCGCGGGGCAGCCCCCTCCCAGCTCTTGCAGCTCAGCTGGCGGCCGTGGGCTCCGGGACTAGGAGAGCGGGACGGGGACCTCGGGCCTGGGGTCTGCAGGGGGCCCGGCCTCCGCTGCCGCGACACTGCGAGGGAGCAGCCAGCCAAGAGCCGGGCGTTATATTGCGATTGGCACTTTATGCTGACCATCGGTAACGGACATTTATCACTGGAGTTTTTTTTTTTTTTAACTATTAAATAAACGGTTATTTTACAGGCA)$ MSQPIMVQRRSGQGFHGNSEVNAILSPRSESGGLGVSMVEYVLSSSPADKLDSRFRKGNFGTRDAETDGPEKGDQKGKASPFEEDQNRDLKQGDDDDSKINGRGLPNGMDADCKDFNRTPGSRQASPTEVVERLGPNTNPSEGLGPLPNPTANKPLVEEFSNPETQNLDAMEQVGLESLQFDYPGNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHI|dpd* 14CO005 ENSG00000086200.16 ENSG00000152422.16 +/+ +/+ chr5:62412929 chr5:83104910 5'UTR/splice-site 5'UTR/splice-site deletion 2 3 0 30 45 high . . |DNA_double-strand_break_repair_and_V(D)J_recombination_protein_XRCC4(100%) . . ENSG00000086200.16 ENSG00000152422.16 ENST00000325324.10 ENST00000282268.7 downstream upstream mismappers(1),mismatches(1) ^(TTTGGAGCTGCGA)CGCCAAACATGGCGTGTTCCTAGAAGCCGCTTTCGGCATCAGTAGGCGGCGGCGTGGGGTCTGGCAGCGTGGGGAGAGGGACCAACCGACGCCACTTCGTGTTGGGAAGTGGGAGCGGGAGGGCCGGGCAATTCCCGACCGAACCAAACG|GTATTAAGAAATGGAGAGAAAAATAAGCAGAATCCACCTTGTTTCTGAACCCAGTATAACTCATTTTCTACAAGTATCTTGGGAGAAAACACTGGAATCTGGTTTTGTTATTACACTTACTGATGGTCATTCAGCATGGACTGGG(ACAG___TTTCTGAATCAGAGATTTCCCAAGAAGCTGATGACATGGCAATGGAAAAAGGGAAATATGTTGGTGAACTGAGAAAAGCATTGTTGTCAGGAGCAGGACCAGCTGATGTATACACGTTTAATTTTTCTAAAGAGTCTTGTTATTTCTTCTTTGAGAAAAACCTGAAAGATGTCTCA___TTCAGACTTGGTTCCTTCAACCTAGAGAAAGTTGAAAACCCAGCTGAAGTCATTAGAGAACTTATTTGTTATTGCTTGGACACCATTGCAGAAAATCAAGCCAAAAATGAGCACCTGCAGAAAGAAAATGAAAGGCTTCTGAGAGATTGGAATGATGTTCAAGGACG___ATTTGAAAAATGTGTGAGTGCTAAGGAAGCTTTGGAGACTGATCTTTATAAGCGGTTTATTCTGGTGTTGAATGAGAAGAAAACAAAAATCAGAAGTTTGCATAATAAATTATTAAATGCAGCTCAAGAACGAGAAAAGGACATCAAACAAGAAGG___GGAAACTGCAATCTGTTCTGAAATGACTGCTGACCGAGATCCAGTCTATGATGAGAGTACTGATGAGGAAAGTGAAAACCAAACTGATCTCTCTGGGTTGGCTTCAG___CTGCTGTAAGTAAAGATGATTCCATTATTTCAAGTCTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATCTTGGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAA___GCCTGATTCTTCACTACCTGAGACGTCTAAAAAGGAGCACATCTCAGCTGAAAACATGTCTTTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAACAGTCTCAAAAAATACTTTGATGTTCACTAGACTATGTTTTCTATTCATTTCTTTAAAATGAAAAAGGAGAATTTCAAGTCAGCAGCCGCTATTACCGTATCTTACAATTTAATTACATACACAGTGAATTGAAACCATTGTGCAAAATGGATTACACATGTATACAAAGATACGATTTGATGATGACACTGGCACATTATTCTAAACTATTCATTCAGCATGCCTATAATTACATAAATTGTATGAGACTTTTTGTTGCAAAGGACACATTTATCATATTCATTCACACATATTATATGTGATAGCTGTCCAACATCCTGTCTGGGAAGATTTTGAAAACAGGACAAAGAAAACATCATTTTAAAATGTCTTCAGCTTTTTTTGAATAGACGTATTCAAACATATTCTGAACATTGATGTTTGAACATTTTAATTTGTGTGATGATGTAGAAAATATAATTTTAGTTTGTACATAAACATTGTGAAAATCTGATAATAAAATTTTTGATACATTG)$ . 14CO005 ENSG00000083123.15 ENSG00000226453.2 +/+ -/+ chr6:80203212 chr6:82113457 CDS/splice-site intron deletion/5'-5' 4 1 0 72 12 high out-of-frame . Transketolase__C-terminal_domain(100%),Transketolase__pyrimidine_binding_domain(100%)| . . ENSG00000083123.15 ENSG00000226453.2 ENST00000356489.9 . downstream upstream . ^(AGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACG___GGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAG___TAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATG___GAAAAGATAGAGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAG___ATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAG___GTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCTAAAATACTTTACAGGGCAGCAG___CGGAAGAAGTCCCTATAGAACCATACAACATCCCACTGTCCCAGGCCGAAGTCATA)CAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAG___GTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAAGTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAG|GTTTATAGGCAGAGGTCACTACAGAGTCAACCATCGTGGTTTCTGACAAGCCTTTTCCAGCTCTGCAGTCCAGAGATCCTGAACACGATCATCTTCTCTATGTAATTTCCCATTCCCTTAAAATTCCCTTGGATTCACTTTGCGGAGGGCAGAGAGGTG MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICK|vyrqrslqsqpswfltslfqlcspeilntiifsm* 14CO005 ENSG00000119787.14 ENSG00000237803.6(36720),ENSG00000115841.21(12309) -/- ./+ chr2:38314608 chr2:37912978 CDS/splice-site intergenic inversion 2 1 0 107 1 high out-of-frame . Guanylate-binding_protein__N-terminal_domain(100%)| . . ENSG00000119787.14 . ENST00000378954.9 . upstream upstream . ^(AAATCGGTACAAGATGGCGGAGGGGGACGAGGCAGCGCGAGGGCAGCAACCGCACCAGGGGCTGTGGCGCCGGCGACGGACCAGCGACCCAAGCGCCGCGGTTAACCACGTCTCGTCCACGACCTCCCTAG___GTGAGAATTATGAAGATGATGACCTAGTAAATTCTGATGAGGTTATGAAGAAACCATGTCCAGTACAGATTGTTCTTGCTCATGAAGATGACCATAACTTTGAACTTGATGAAGAAGCTTTGGAGCAGATATTGCTACAGGAGCACATACGAGATCTTAACATAGTAGTGGTATCTGTGGCAGGAGCTTTTCGTAAAGGGAAGTCATTTCTACTGGACTTCATGCTTAGATACATGTATAACAAG___GATTCTCAAAGTTGGATTG)GTGGAAACAATGAACCATTGACAGGCTTTACATGGCGAGGTGGCTGTGAAAGAGAAACAACAGGCATACAAGTTTGGAATGAAGTATTTGTGATTGACAGACCTAATGGAACTAAA___GTTGCTGTGCTGCTTATGGATACCCAGGGTGCCTTTGATAGCCAGTCAACTATCAAAGACTGTGCAACGGTGTTTGCTCTGAGCACTATGACTAGCTaTGTCCAG___GTATATAATCTGTCTCAGAATATTCAAGAAGtTGATCTTCAACATTTGCAA___TTATTTACAGAGTATGGAAGACTTGCGATGGAAGAAATCTACCAGAAACCATTTCAG|ATGAAcATCAATAGTCATAAGGAATGAAAACCAAGACAACTGGATTTTAACAGGGAG___GAAAAGTTGCAAGAATGGCTAGTAAAGTTCCAAAACTACAATTTCATTT MAEGDEAARGQQPHQGLWRRRRTSDPSAAVNHVSSTTSLGENYEDDDLVNSDEVMKKPCPVQIVLAHEDDHNFELDEEALEQILLQEHIRDLNIVVVSVAGAFRKGKSFLLDFMLRYMYNKDSQSWIGGNNEPLTGFTWRGGCERETTGIQVWNEVFVIDRPNGTKVAVLLMDTQGAFDSQSTIKDCATVFALSTMTSyVQVYNLSQNIQEvDLQHLQLFTEYGRLAMEEIYQKPFQ|mninshke* 14CO005 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 5 7 0 324 17 medium out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream . ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGA)GTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATAgAAAATTAGCCAGGCGTtGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGG MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 15CO001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 22 16 1 41 48 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) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCG(CTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 15CO001 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 5 14 0 17 31 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1) CGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCC(CCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 15CO001 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 18 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGG(CCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 15CO001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 4 0 130 28 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATC)AGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 15CO001 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 1 14 0 23 28 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream mismappers(2),mismatches(1) CGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTT(CCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 15CO001 ENSG00000267741.1(10978),ENSG00000266950.1(7683) ENSG00000196605.7 ./- -/- chr19:9785938 chr19:9765035 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 24 30 high . . |C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc-finger_double_domain(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000196605.7 . ENST00000397902.6 upstream downstream . GCCGGGTCCAGAGCCCTCAGTTCCTTCTGAAACCCTGGAGCGGAATCAGAAGTGCGCGTGGCCACAGCGGCGCCTCCTGCCCTTTAGCCGCCGCTGGCCCAACGGTTTCCCCAGCAGTAGCCTCTGCGACCAG|GTCATTTTTTCCAGGACACTTTCTGTCTTCATGACAGGAACATCGAGAAGCCAAGGCTAGTGGCTGGGTTACTGATGGATTACTGATGGATTCTTCTCAG___CACTTAGTGACCTTTGAGGATGTGGCTGTGGACTTTACCCAGGAGGAGTGGACTTTGTTGGATCAAGCCCAGAGAGATCTCTACAGAGATGTGATGTTGGAGAACTACAAGAATCTCATTATACTAG___CAG(GGTCTGAATTATTCAAACGTAGTCTCATGTCTGGATTGGAACAAATGGAAGAGCTGAGGACAGGAGTGACAGGAGTTCTGCAGG___AATTGGATTTGCAACTCAAAACCAAAGGCTCCCCACTGCTGCAAGATATTTCTGCAGAAAGATCACCAAATGGAGTACAATTG___GAGAGAAGCAATACTGCAGAGAAACTGTATGACTCTAACCATTCTGGAAAAGTCTTCAATGAACACCCATTTCTTATGACTCACATGATAACTCACATTGGAGAGAAAACTTCTGAGGATAATCAGAGTGGAAAAGCCTTAAGAAAGAACTTTCCTCATAGTTTTTACAAGAAAAGTCATGCTGAGGGGAAAATGCCTAAGTGTGTTAAACATGAAAAAGCCTTCAACCAGTTTCCAAATCTTACTAGGCAGAATAAAACTCACACACAAGAGAAATTGTGTGAATGCAAAGACTGTTGGAGAACTTTTCTTAATCAGTCATCCCTTAAGTTACATATAAGATCTCACAATGGAGACAAACACTATGTATGTAAGGAATGTGGGAAAGCCTTCAGTAATTCCTCACACCTTATAGGACATGGAAGAATTCACAGTGGAGAGAAGCCCTATGTCTGTAAAGAATGTGGTAAAGCTTTCACTCAATCCACAGGACTTAAATTACACATCAGAACTCACAGTGGAGAAAAACCATATAAATGTAAAGAGTGTGGGAAAGCCTTCACCCATTCTTCATACCTTACTGATCATACAAGAATCCACAGTGGAAAGAAGCCCTATGTATGTATGGAATGTGGAAAAGCCTTCACTAGATCCACAGGACTTATTTTACACATGCGAATTCACACTGGAGAAAAGCCATATGAATGTAAGGAGTGTGGAAAAGCTTTTATTCATTCCTCATACCTTACAAAACATGTAAGGATTCACAGTGGAGAGAAGCTGTATTTATGTAAGGCATGTGGGAAAGCTTTTACTCGTTCCTCAGGACTTGTTTTACACATGAGAACACATACTGGAGAAAAGCCCTATGAATGTAAAGAATGTGGGAAAGCCTTTAATAATTCCTCAATGCTTAGTCAACATGTAAGGATTCACACTGGAGAGAAGCCATATGAATGCAAAGAATGTGGGAAAGCTTTCACTCAATCCTCGGGCCTTAGTACCCATTTAAGAACTCACACTGGAGAAAAGGCCTGTGAATGTAAGGAATGCGGTAAAGCATTTGCTCGTTCCACAAATCTTAATATGCACATGCGAACGCACACAGGAGAAAAGCCTTATGCATGTAAAGAATGTGGGAAAGCCTTCAGGTATTCCACATACCTTAACGTTCACACACGAACTCACACTGGAGCAAAACCATATGAATGTAAGAAATGTGGGAAAAACTTCACTCAATCTTCAGCACTTGCTAAACATCTAAGAACTAAGGCATGTGAAAAAACCTGA)$ . 15CO001 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 16 14 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . ATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACAC(AAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 15CO001 ENSG00000169299.14 ENSG00000247810.8 +/+ +/- chr4:37830131 chr4:37075090 CDS/splice-site intron inversion/3'-3' 4 2 0 60 4 high out-of-frame . Phosphoglucomutase/phosphomannomutase__alpha/beta/alpha_domain_I(100%)| . . ENSG00000169299.14 ENSG00000247810.8 ENST00000381967.9 . downstream downstream . ^(AGATCTCACCGCCTGCTTCCCTCTGCAGCGGTAGCACAAGCTCAGCGATGGCGGCTCCAGAAGGCAGCGGTCTAGGCGAGGACGCCCGGCTGGACCAGGAGACCGCCCAGTGGCTGCGCTGGGACAAG___AATTCCTTAACTTTGGAGGCAGT)GAAACGACTAATAGCAGAAGGTAATAAAGAAGAACTACGAAAATGTTTTGGGGCCCGAATGGAGTTTGGGACAGCTGGCCTCCGAGCTGCTATGGGACCTGGAATTTCTCGTATGAATGACTTGACCATCATCCAGACTACACAG|AAAAGTAAAAAGACACATCTTGGACAGTAACGGAGAGACCTTCTGCTTATGAACACCTTGGCTGCAGTTGGGAAAGAAAAACTAAACAAAGTAGGCTTACGAA MAAPEGSGLGEDARLDQETAQWLRWDKNSLTLEAVKRLIAEGNKEELRKCFGARMEFGTAGLRAAMGPGISRMNDLTIIQTTQ|kskkthlgq* 15CO001 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 2 3 0 25 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGAT)CTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATG...___CCATTTCGTAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 15CO001 ENSG00000227345.8 ENSG00000165733.8 -/- +/+ chr10:49885203 chr10:42791627 CDS/splice-site CDS/splice-site inversion 3 0 0 47 84 medium in-frame . |40S_ribosome_biogenesis_protein_Tsr1_and_BMS1_C-terminal(100%),AARP2CN_(NUC121)_domain(100%) . . ENSG00000227345.8 ENSG00000165733.8 ENST00000402038.7 ENST00000374518.6 upstream upstream . ^(GGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAG___GCAGGCGCTGAGAAGGAGGCGCAGTCCATCTCTCTCAGGGTTAGTGAATGAGGCTCTCCGCCCGGGCCGGCCCGGGGACAGTGCGCTGCTGGTCCCAGCATGAATGCGGGCCCCGGCTGTGAACCCTGCACCAAGCGACCCCGCTGGGGCGCCGCTACAACTTCGCCGGCTGCTTCGGACGCCCGGAGCTTTCCCAGCAGGCAGAGGCGCGTCCTCGACCCCAAGGACGCTCACGTGCAGTTCAGGGTCCCACCGTCCTCGCCAGCCTGCGTCCCAGGGCGGGCGGGACAGCACAGAGGCAGCGCCACCTCGCTTG___TTTTCAAACAAAAGACTATTACCAGTTGGATGGACACTAAAGGAATCAAGACAGCGGAATCAGAAAG___TTTGGATAGTAAAGAAAACAACAATACAAGAATAGAATCCATGATGAGTTCTGTACAAAAAGATAACTTTTACCAACATAATGTAGAAAAATTAGAAAATGTTTCTCAGCTAAGTCTTGATAAGTCACCCACTGAAAAAAGTACACAGTATTTGAACCAGCATCAGACTGCAGCAATGTGTAAGTGGCAAAATGAAGGGAAACACACGGAGCAGCTTTTGGAAAGTGAACCTCAAACAGTAACCCTGGTACCAGAGCAGTTTAGTAATGCTAACATTGATCGGTCACCTCAAAATGATGATCACAGTGACACAGATAGTGAAGAGAATAGAGACAATCAACAGTTTCTCACAACTGTAAAGCTTGCAAATGCAAAGCAGACTACAGAAGATGAACAGGCCAGAGAAGCCAAAAGCCACCAGAAGTGCAGCAAGTCTTGCGATCCTGGGGAAGACTGTGCAAGTTGTCAGCAAGATGAGATAGATGTGGTGCCAGAGAGTCCATTGTCAGATGTTGGCTCTGAGGATGTTGGTACTGGGCCAAAAAATGACAACAAATTGACTAGACAAGAAAGTTGCCTAGGAAATTCTCCTCCATTTGAGAAGGAAAGTGAACCCGAGTCACCGATGGATGTGGATAATTCTAAAAATAGTTGTCAAGACTCAGAAGCAGATGAGGAGACAAGTCCAGGTTTTGATGAACAAGAAGATGGTAGTTCCTCCCAAACAGCAAATAAACCTTCAAGGTTCCAAGCAAGAGACGCTGACATTGAATTTAGGAAACGGTACTCTACTAAGGGCGGTGAAGTTAGATTACATTTCCAATTTGAAGGAGGAGAGAGTCGCACTGGAATGAATGATTTAAATGCTAAACTACCTGGAAATATTTCTAGCCTGAATGTAGAATGCAGAAATTCTAAGCAACATGGAAAAAAGGATTCTAAAATCACAGATCATTTCATGAGACTGCCCAAAGCAGAGGACAGAAG___AAAAGAACAGTGGGAAACCAAACATCAAAGAACAGAAAGGAAGATCCCTAAATACGTTCCACCTCACCTTTCTCCAGATAAGAAGTGGCTTGGAACTCCCATTGAGGAGATGAGAAGAATGCCTCGGTGTGGGATCCGGCTGCCTCTCTTGAGACCATCTGCCAATCACACAGTAACTATTCGG___GTAGATCTTTTGCGAGCAGGAGAAGTTCCTAAACCTTTTCCAACACATTATAAAGATTTGTGGGATAACAAGCATGTTAAAATGCCTTGTTCAGAACAAAATTTGTACCCAGTGGAAGATGAG___AATGGTGAGCGAACTGCGGGGAGCCGGTGGGAGCTCATTCAGACTGCACTTCTCAACAAATTTACACGACCCCAAAACTTGAAG___GATGCTATTCTGAAATACAATGTGGCATATTCTAAGAAATGGGACTTTACAGCTTTGATCGATTTCTGGGATAAG___)GTACTTGAAGAAGCAGAAGCTCAACATTTATATCAGTCCATCTTGCCTGATATGGTGAAAATTGCACTCTGTCTGCCAAATATTTGCACCCAG|GGTGtCAAGCTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCGTTTTATTACAGTTATGAAGTTTAGGCtTCTCAC(ATGGCAAACTTCTCACCCTTATATCCTGGCAGACAG___GATGGAAGATTTGACAAACCCAGAGGATATCCGAACAAACATCAAATGTGACCGGAAGGTGTCACTTTATGGTTATTTAAGAGGAGCACACTTGAAAAATAAAAGCCAAATTCACATGCCAG___GGGTAGGAGATTTTGCCGTGAGTGACATCAGTTTCCTCCCAGACCCTTGCGCTCTTCCTGAACAACAAAAGAAGCGCTGTTTAAATGAGAAGGAGAAGCTGGTTTATGCGCCTCTTTCTGGAGTTGGGGGTGTGCTGTATGACAAAGACGCTGTCTATGTTGACCTTGGTGGCAGCCACGTTTTTCAG___GATGAAGTGGGGCCCACCCATGAGCTGGTCCAGAGTCTCATCTCTACCCACTCCACCATTGATGCCAAGATGGCTTCAAGTCGAGTGACGCTGTTTTCTGATTCCAAGCCACTTGGGTCAGAGGATATAGATAATCAAGG___GCTAATGATGCCAAAGGAGGAAAAACAAATGGACTTGAACACTGGTCGAATGCGTCGGAAAGCCATTTTCGGAGATGAAGATGAATCTGGAGATAGTGATGATGAAGAAGATGATGAAATGTCTGAAGATGACGGGTTGGAAAACGGCTCTAGTGATGAGGAAGCAGAAGAGGAGGAAAATGCTGAGATGACTGATCAGTATATGGCTGTTAAGGGCATCAAACGACGGAAACTTGAGTTGGAAGAAGACAGTGAAATGGATTTGCCAGCATTTGCTGACAGTGACGATGACCTTGAGAGGAGCTCAGCGGAAGAAGGGGAAGCGGAGGAAGCTGATGAAAGCAGTGAAGAAGAGGACTGCACTGCAGGAGAGAAGGGCATTTCAGGATCAAAGGCTGCTGGAGAAGGTAGTAAAGCAGGGCTGTCACCAGCTAATTGCCAGAGTGACCGTGTGAATCTGGAGAAGTCTTTGCTGATGAAGAAAGCAGCTCTCCCCACTTTCGATTCTGGGCATTGCACAGCTGAAGAGGTGTTTGCATCTGAAGATGAATCTGAAGAAAGCTCCTCACTCAGTGCAGAGGAAGAAGACTCAGAAAATGAAGAGGCTATTAGAAAAAAGCTTTCAAAGCCTTCTCAAGTGAGCAGTGGTCAGAAACTGGGGCCACAGAACTTCATTGATGAGACCAGTGATATAGAAAATTTACTCAAAGAGGAAGAAGATTACAAGGAAGAAAATAATGATTCCAAAGAAACGTCAG___GTGCCCTCAAGTGGAAGGAAGACCTTTCCAGAAAGGCAGCTGAGGCCTTTCTGAGGCAGCAGCAAGCAGCTCCAAACCTCCGAAAGCTTATTTATGGGACAG___TGACAGAAGATAATGAAGAAGAAGATGATGATACTCTAGAAGAGCTTGGAGGGTTGTTTCGTGTCAACCAGCCTGACAGAGAGTGTAAGCACAAGGCTGACTCTTTGGACTGCTCCAGATTTCTTGTGGAGGCCCCCCATGACTGGGATTTAGAGGAG___GTTATGAACAGTATCAGAGATTGCTTCGTGACTGGAAAGTGGGAAGATGATAAAGATGCAGCCAAGGTCTTAGCAGAAGATG___AGGAGCTCTACGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCAGGCCCCAATACTCAG___AATGAAGATATAGAGAAAGAAGTTAAGGAAGAAATTGACCCCGACGAAGAAGAAAGTGCCAAGAAAAAGCATTTGGATAAGAAGAGAAAATTGAAGGAGATGTTTGATGCAGAATATGATGAAGGAGAAAGCACATATTTTGATGATCTTAAAGGAGAAATGCAGAAACAAGCACAG___CTGAATCGCGCAGAATTTGAAGATCAAGATGATGAAGCCAGAGTTCAGTATGAGGGTTTTCGACCTGGGATGTACGTCCGCATTGAGATTGAAAATGTTCCCTGTGAATTTGTGCAGAACTTTGACCCCCATTACCCCATTATCCTGGGTGGCTTGGGCAACAGTGAGGGAAATGTTGGCTACGTGCAG___ATGCGTCTGAAGAAACATCGCTGGTATAAGAAAATCCTCAAGTCCCGAGATCCAATCATATTTTCTGTAGGGTGGAGGAGGTTTCAGACCATCCCACTGTATTATATCGAAGACCACAATGGAAGACAAAGGCTTCTAAAGTATACCCCACAGCACATGCATTGCGGAGCAGCCTTTTGGG___GCCCTATCACTCCACAGGGAACTGGTTTCTTGGCAATACAGTCTGTCAGTGGCATAATG___CCTGATTTTCGGATAGCTGCTACAGGAGTTGTCCTTGATCTGGATAAATCCATAAAAATTGTGAAGAAATTAAAGCTAACTGGTTTTCCATATAAAATTTTCAAGAACACTTCATTTATTAAG___GGAATGTTTAATTCTGCCTTGGAAGTGGCCAAATTTGAAGGTGCTGTGATTCGAACAGTCAGTGGGATAAGGGGGCAGATCAAGAAAGCACTCCGAGCTCCAGAAGGAGCTTTCAGGGCCAGCTTTGAGGATAAGCTGCTGATGAGCG___ATATTGTCTTCATGCGAACTTGGTATCCTGTTTCCATCCCAGCGTTCTATAACCCAGTAACATCTTTGTTGAAACCAGTGGGTGAGAAAGACACCTGGTCAGGAATGCGGACCACGGGCCAACTCAGGCTCGCCCATGGCGTCAGACTAAAGGCGAACAAGGACTCTCTGTATAAG___CCAATCCTGAGGCAAAAGAAACATTTTAATTCACTGCACATTCCAAAAGCCTTGCAGAAGGCCCTGCCATTTAAGAACAAGCCCAAGACCCAAGCAAAGGCAGGCAAGGTGCCAAAGGACAGGCGGAGACCGGCCGTCATACGCGAGCCTCATGAAAGAAAG___ATCCTTGCACTGCTGGATGCTCTGAGTACGGTGCATAGTCAGAAGATGAAGAAGGCCAAGGAGCAGCGGCACCTGCACAATAAAGAGCACTTCAGAGCCAAGCAGAAGGAGGAGGAGGAGAAGCTGAAGCGGCAGAAGGACCTCAGGAAGAAGCTCTTCAGAATTCAGGGGCAGAAGGAAAGAAGAAACCAGAAGTCCAGTTTGAAGGGGGCTGAGGGCCAATTGCAGTGAGCCTTTGGACTGGAGGGACTGTCCCTGGATCTGCGGAGGTAGACAGTTTCAAACATCACAGTTTGAATGCCTGTGAATGACAAGTCAGTGGGAAAGAGCTCAAGAGATGTCTCTACTCAAACTGTGCCTGCAGGAGGAGGAACAGAGAAGCCTGGGCTGCTGGGACTGGGTTCATTCTCATGACTTGGGGCTGTCGAGATTTAAAGTGATGTAAGCTGTGGTTATGTGGATTCTCTTACTTTCCTCTGCCTGCCTCAGTTTAATTATTTTGTCCTACAGAAATATCATTAAAATATTTTTTTGTTACTTTTGGCTTAGTAGTTTTCATTAGGGATGAATGCCTGACAATTCTTTGTGGATAATTATTTATACTACCACCTTCATGAGGAGTCTTCCAGAAGAGAAAGAAATATTCACTTGAACTCTGAGCTCCCATGGAAGATTTTAGAGAATAGTGTGTAGTGTTTTTGTTTTGTTTTTTGTTTGAGTGACACACAAACCTAGATGGTACAGCCTACTGTGCACCCAGGATCTATGGGCTCCTTTGATCACTGGCCCTTGTGGACATTTTCTATCTTATTTCATATGTTCTGCACATTAGTATAGTGACAAGGTAACAGTAAGTACTTTTTTAAAGCTTTAGACTTAGGAGATTATTGTCTCAGGTGCAGAGACCAAGGAAATCGTATGTATCAGTGAGATAGGCTTCCCGTATTATGCTCATGCGTTATACCTGCCTAGCTACATTGCCTTTTTTTAAATTAAACATTATGTTGAAGTAATCATACTATTACATAGGCGATGTATGTATTTTATGATTGTATGTTGATATAGTTATGGGGAATCTATTCCTATACGATGTAATCATAGATTCACATATAGTTGTATATTTTGCCCAATTTCTCTCAGTGGTAATGTTTCACACATATAACAATCAGGATGTTGACATCAATACAGCCCGCTGATTTTATTCACATTTCCCCAGCTTTACTTTCCCCAACGTATACTCCTCCATGTATGCATGGGTGTGTAGAAATATGGAACGCAGCTGGGCACAGTGACTCACGCCTGTAATCCCAGCACTTTGGGATGCTAAGGCAGGAGGATCACTTGAGCCCAGGAATTTGAGACCAACTTGGGCAACATGGCAAAACCTCATCGCTACAAAAAATAAAAAATTCGCCAGGTGTGGTGGGTGCACACCTGTAGTTCCAGCTGCTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCTTGGGAGGTTGAGGCTGCAGTGAGCCATGATAGCACCACTGCACTCCAGCCTGGGCGACAGGGCAAGACCCTGTTTCAAAAAAAAAAAATTATACATATATGTATGTAGAACACTTCATGAATTTGTGTGTCATCTGTGCATGGGGCCCATGCTGACCTCTGTGTTGTGCCAGTTATAGTATGTGTGCTGCTGATATGAGTGCCACATTGCCTTTACAACATCATAGGGGCCAAAGAGGGTTGGCAGGATTATGAGCAGTTGGCCTAGTCTGAGAGGCTCTCTAAAAGCCTAAAGTCTGTAGGCAGGTGCTCAGCTTTGTATCTCCATAAGAAGGGAAGAGGATGTGAGGATCCTGTCAGGGCTAGGTCCACCTGGGAAGTGACAATTGGAACACTCCCAGACCTCTCTGGGCAACTCTGGGTGTACATTTTCCTCTGTTCCTCAAGAGCTATTATGAATTTCATCATCCATTATGCTGATAGGCCTGGGGACTGACACATAGTAAGCCCATAACAATTATAATTTAAAACTAATTTGTTATATAGCATAATTGATATATTTTAAAATGCAAAACTATAATTCAACTAAAATATACAAGGCACTCAAGTCATACCATGTTTTAAGTAGCTTACAAGGTGATCAGCAAGTGTCTTATACAACAAGCAAATTTGTTCAAAGAGAAGCATTGCAAATAAGTATTTATAATTGTATAGTTTTATATTTTAGCCAGAAGAGTGGAATCCTTTAGCAATGGGGGAAATAAAAGAATGTTTAATTACAGTTGCAGATAATTGCCTTTTCCAAAGACAATGTATGTAGGCAGAACTCATACCTGTTAATATTAAAAATCTTGGTTTATCATATTTGGAGAACAAGGGAAATAAAAAGTTTGCATATTAAGATTATTTAAACTAAAGTTAAGGAATCTCTAATGTCTGAAAGAAACAATAAATAGCATTTTTCATGTAGAATTTTTATTGGTGAAGGTTCCACCTGGCCAGGTTAGTAAAATACAGTCACACATCAGTTAAGGATGGGGATATATTCTGAGAAATGTATCATTAGGCAATTTTGTCATTGTGTAAACATCATAGAGTGACACACAAACCTAGATGGTACAGCCTACTGTGCACCTGGGCTCTATGGTATGGCCTGTTGCTCCTAGGCTACAAACCTGGGCAGCATGTGACTGTACTGACTACTGTAGGCAGTTGTAACACAGTGGTAAACATTTGTGTATCGAAACATAGAAAAGGCGTAGCAAAAATACAGTATTGTGGAACCACTGCCATATACGTGGTCCATCCTTGACTGAACATCATGCGGCATGTGGCTGTATGTATACACATAGTTTTTGCTGTGAGTTTGCATCCATCTCATAGGAAGACATATATCAAAATAAGGACCAGACTGGAGAGTGTGTAAATTACTTTTCAATACTAATGGCTTATTAATTTGATATTGTCAGCAAGTATGTTGCAAAAACAAATTCCACCAGAATGTGAGTTCCATGAGAGCAGGAACTGGGTTGTTCACCTTGTTGGCACTTGGAGTAGAGCCACTGAGCTTCGTGCTGCATAAAATTGCTTGGAAGAAAGAAGGGAGGGCATTCCAGGTAACTGAAGCATTGCTATGCAAAGTAAGCATTTGCCCTCTGAAATATTTTAACAATGTTTATAGAAACCTTTCTCAATTGTATTAAACTTTGTAAATTGTAAAAATTATTCTGTTATACCTTTTCTATTTACTAGGCACAGGCAGCCATAGGTGCTAGGTATGTTTTGAAAACATATTGAACCTACAGTGTACATATCATTCCATGCCATTAAATATTCTTATTTAATCATAGATGTGTTCAGGTGTGTTTGGTTTCCTATTTGTGGATGTACTAGATTGTTTTCTTTTTTTAACAAAACCTGTGAACTTGCTTTAAGTATTATCATTTGGTGACATGCCCGCCATTTCAGAAATAAATGTTTGAGCAAAGAGGAAAGCCACCGGGTCTGATTCAGCTCTCTGGAGGCTCCAGAGCTTACCTCGCTGATGGGAAAAAGAGCATCGATTTAATTGCCCTTGGTACCGACTTCTAGTATCTAGTATTTTGCCAGACTCAGGTATTTCTTAAAGCCATTATTCAGAGTCTTCAGCAAGGACATTGTATTTTACTTGTGTCTCCTTAGTTTTACCTAGTTTATTTCATGGTTTTAAAGTATTGTACATTTTTATAATCCTTTAACAAGACAAAAGGTTGAGATGTTGGACATTTAAATGCCAAAGGTGTTTTATTATGAGACTTAGCATTTCATATTTGGGGATGGTACCTTATCGAAAATCAGATAAACTTTGGTTGGATGGGTATTTGGAGGAATCTTTTAAGTCTTTTCTTAAGCAAAGTTTGGACACTCTAAAATAAGGTTGCCAACTGGCATGTAGAGAGAAAAGGATGTGTCATACATTTAGACCAGGTGGCCTGTCCTGTAAATTTTTTTGAGGGGAGGGGTGGGCTTGTTTTTTTCTGTGTTTCGGTTTTTTCCAATTTTTGTTTTGTGATAAAATATGCATAATAAAACTTATTTTATCAATTTTTAA)$ MNAGPGCEPCTKRPRWGAATTSPAASDARSFPSRQRRVLDPKDAHVQFRVPPSSPACVPGRAGQHRGSATSLVFKQKTITSWMDTKGIKTAESESLDSKENNNTRIESMMSSVQKDNFYQHNVEKLENVSQLSLDKSPTEKSTQYLNQHQTAAMCKWQNEGKHTEQLLESEPQTVTLVPEQFSNANIDRSPQNDDHSDTDSEENRDNQQFLTTVKLANAKQTTEDEQAREAKSHQKCSKSCDPGEDCASCQQDEIDVVPESPLSDVGSEDVGTGPKNDNKLTRQESCLGNSPPFEKESEPESPMDVDNSKNSCQDSEADEETSPGFDEQEDGSSSQTANKPSRFQARDADIEFRKRYSTKGGEVRLHFQFEGGESRTGMNDLNAKLPGNISSLNVECRNSKQHGKKDSKITDHFMRLPKAEDRRKEQWETKHQRTERKIPKYVPPHLSPDKKWLGTPIEEMRRMPRCGIRLPLLRPSANHTVTIRVDLLRAGEVPKPFPTHYKDLWDNKHVKMPCSEQNLYPVEDENGERTAGSRWELIQTALLNKFTRPQNLKDAILKYNVAYSKKWDFTALIDFWDKVLEEAEAQHLYQSILPDMVKIALCLPNICTQ|GvKLFYLSGMVHGEYQNQEIHNLGRFITVMKFRlLTWQTSHPYILADRMEDLTNPEDIRTNIKCDRKVSLYGYLRGAHLKNKSQIHMPGVGDFAVSDISFLPDPCALPEQQKKRCLNEKEKLVYAPLSGVGGVLYDKDAVYVDLGGSHVFQDEVGPTHELVQSLISTHSTIDAKMASSRVTLFSDSKPLGSEDIDNQGLMMPKEEKQMDLNTGRMRRKAIFGDEDESGDSDDEEDDEMSEDDGLENGSSDEEAEEEENAEMTDQYMAVKGIKRRKLELEEDSEMDLPAFADSDDDLERSSAEEGEAEEADESSEEEDCTAGEKGISGSKAAGEGSKAGLSPANCQSDRVNLEKSLLMKKAALPTFDSGHCTAEEVFASEDESEESSSLSAEEEDSENEEAIRKKLSKPSQVSSGQKLGPQNFIDETSDIENLLKEEEDYKEENNDSKETSGALKWKEDLSRKAAEAFLRQQQAAPNLRKLIYGTVTEDNEEEDDDTLEELGGLFRVNQPDRECKHKADSLDCSRFLVEAPHDWDLEEVMNSIRDCFVTGKWEDDKDAAKVLAEDEELYGDFEDLETGDVHKGKSGPNTQNEDIEKEVKEEIDPDEEESAKKKHLDKKRKLKEMFDAEYDEGESTYFDDLKGEMQKQAQLNRAEFEDQDDEARVQYEGFRPGMYVRIEIENVPCEFVQNFDPHYPIILGGLGNSEGNVGYVQMRLKKHRWYKKILKSRDPIIFSVGWRRFQTIPLYYIEDHNGRQRLLKYTPQHMHCGAAFWGPITPQGTGFLAIQSVSGIMPDFRIAATGVVLDLDKSIKIVKKLKLTGFPYKIFKNTSFIKGMFNSALEVAKFEGAVIRTVSGIRGQIKKALRAPEGAFRASFEDKLLMSDIVFMRTWYPVSIPAFYNPVTSLLKPVGEKDTWSGMRTTGQLRLAHGVRLKANKDSLYKPILRQKKHFNSLHIPKALQKALPFKNKPKTQAKAGKVPKDRRRPAVIREPHERKILALLDALSTVHSQKMKKAKEQRHLHNKEHFRAKQKEEEEKLKRQKDLRKKLFRIQGQKERRNQKSSLKGAEGQLQ* 15CO001 ENSG00000278933.1(322254),ENSG00000267716.1(217381) ENSG00000169299.14 ./+ +/+ chr18:43822090 chr4:37829964 intergenic CDS/splice-site translocation 0 2 0 1 62 medium . . |Phosphoglucomutase/phosphomannomutase__C-terminal_domain(100%),Phosphoglucomutase/phosphomannomutase__alpha/beta/alpha_domain_I(100%),Phosphoglucomutase/phosphomannomutase__alpha/beta/alpha_domain_II(100%),Phosphoglucomutase/phosphomannomutase__alpha/beta/alpha_domain_III(100%) . . . ENSG00000169299.14 . ENST00000381967.9 downstream upstream . CTGTAGTGTATTGATTCAAAAGAACAAAACCAAAGATCTCATGAAGCAG|AATTCCTTAACTTTGGAGGCAGTGAAACGACTAATAGCAGAAGGTAATAAAGAAGAACTACGAAAATGTTTTGGG(GCCCGAATGGAGTTTGGGACAGCTGGCCTCCGAGCTGCTATGGGACCTGGAATTTCTCGTATGAATGACTTGACCATCATCCAGACTACACAG___GGATTTTGCAGATACCTGGAAAAACAATTCAGTGACTTAAAGCAGAAAGGCATCGTGATCAGTTTTGACGCCCGAGCTCATCCATCCAGTGGGGGTAGCAGCAGAAG___GTTTGCCCGACTTGCTGCAACCACATTTATCAGTCAGGGGATTCCTGTGTACCTCTTTTCTGATATAACGCCAACCCCCTTTGTG___CCCTTCACAGTATCACATTTGAAACTTTGTGCTGGAATCATGATAACTGCATCTCACAATCCAAAGCAGGATAATGGTTATAAG___GTCTATTGGGATAATGGAGCTCAGATCATTTCTCCTCACGATAAAGGGATTTCTCAAGCTATTGAAGAAAATCTAGAACCGTGGCCTCAAGCTTGGGACGATTCTTTAATTGATAGCAGTCCACTTCTCCACAATCCGAGTGCTTCCATCAATAATGACTACTTTGAAGACCTTAAAAAGTACTGTTTCCACAG___GAGCGTGAACAGGGAGACAAAGGTGAAGTTTGTGCACACCTCTGTCCATGGGGTGGGTCATAGCTTTGTGCAGTCAGCTTTCAAGGCTTTTGACCTTGTTCCTCCTGAGGCTGTTCCTGAACAGAAAGATCCGGATCCTGAGTTTCCAACAGTGAAATACCCGAATCCCGAAGAGGGGAAAGGTGTCTTG___ACTTTGTCTTTTGCTTTGGCTGACAAAACCAAGGCCAGAATTGTTTTAGCTAACGACCCGGATGCTGATAGACTTGCTGTGGCAGAAAAGCAAGACAG___TGGTGAATGGAGGGTGTTTTCAGGCAATGAGTTGGGGGCCCTCCTGGGCTGGTGGCTTTTTACATCTTGGAAAGAGAAGAACCAGGATCGCAGTGCTCTCAAAGACACGTACATGTTGTCCAGCACCGTCTCCTCCAAAATCTTGCGGGCCATTGCCTTAAAGGAAGGTTTTCATTTTGAG___GAAACATTAACTGGCTTTAAGTGGATGGGAAACAGAGCCAAACAGCTAATAGACCAGGGGAAAACTGTTTTATTTGCATTTGAAGAAGCTATTG___GATACATGTGCTGCCCTTTTGTTCTGGACAAAGATGGAGTCAGTGCCGCTGTCATAAGTGCAGAGTTGGCTAGCTTCCTAGCAACCAAGAATTTGTCTTTGTCTCAGCAACTAAAGGCCATTTATGTGGA___GTATGGCTACCATATTACTAAAGCTTCCTATTTTATCTGCCATGATCAAGAAACCATTAAGAAATTATTTGAAAACCTCAGAAACTACGATGGAAAAAATAATTATCCAAAAGCTTGTGGCAAATTTGAAATTTCTGCCATTAGGGACCTTACAACTGGCTATGATGATAGCCAACCTGATAAAAAAGCT___GTTCTTCCCACTAGTAAAAGCAGCCAAATGATCACCTTCACCTTTGCTAATGGAGGCGTGGCCACCATGCGCACCAGTGGGACAGAGCCCAAAATCAAGTACTATGCAGAGCTGTGTGCCCCACCTGGGAACAG___TGATCCTGAGCAGCTGAAGAAGGAACTGAATGAACTGGTCAGTGCTATTGAAGAACATTTTTTCCAGCCACAGAAGTACAATCTGCAGCCAAAAGCAGACTAAAATAGTCCAGCCTTGGGTATACTTGCATTTACCTACAATTAAGCTGGGTTTAACTTGTTAAGCAATATTTTTAAGGGCCAAATGATTCAAAACATCACAGGTATTTATGTGTTTTACAAAGACCTACATTCCTCATTGTTTCATGTTTGACCTTTAAGGTGAAAAAAGAAAATGGCCAAACCCAACAAACTAACATTCCTACTAAAAAGTTGAGCTTGGACATATTTTGAATTTTTGTAAGTGAAGATTTTTAAACTGACTAACTTAAAAAAATAGATTGTAATTGATGTGCCTTAATTTGCATAAATCATAAATGTATGTCCTCTCTGTAATTGTTTTAATGTGTGCTTGAAATATCCAGAAAACCTATGGAGTTAGTAAATTCTGGGCTGTCATATGTAGGATAGCCACTTTTTAGGTATATGTACATTTATATTTCTATCAATTCCTTAGAAAGTAAAATAAATGAATAGATCAAATGTTGTGTTCATGTTTGGGGAAAATATAATTTGCAGAAACCTATGAAGTAGAGCAAAGATGCTTTAAAAAGATAAGTTTTTTTGAACTAAATTTTTTTTAGTTCTAATAATGCACATAGGATATTAGTACATCGTACACGTGCTAGGAAAAAACAGCTTCAGTGTCTTTGTTTAATGTGTTGAAACTCATCTTTTTAAATCTTGAAAAACCAATTGTTTACTTGAAACTTGAAAGTAGCATATTTTTCTGTTTTTTGGTTGTTTGTTCATTTGTATTAGCACAATTTAATGTAATTCCTGGTTTGGAGGCAGCAAGACCTATGAGCAAGAACTATTTACTTGACCCTCGTTTTTTTCTCTTGTTCTTGTGTGGTCTGAAATCTAAAACTAGACTTTATTATGATAGATTTCCTATAAGCCAATTTCTAATAACAAATAGATTTATTATTTAATCTGTACCTTCTATCTTCTCATAATTCGTGGTCTTACAGCCTTCCAAAATAACTCCAGTTGGGCACCCATGAGCTAGGATCAAACTTTCTTTATATACTTTATATATTTTACATTATTTCTGATTTTTAAAGCAAATGATTGCCATTATGATTACACTCAACCTAAATAGTTATGAACAGTTTCAGAACAATGAAAAATTACAATACTATGTGATAGTATTGTAACTATTTTTCTATTTTAGTCATATGTCGCTTATATCCTACCAGAACTCTTAAATCTATAATATTCGATATATTCTACAAACTGCTTTATTGTAGAAGCCATATTTATGTTTATTTTATAATGTTTTCTAGTGTCAAACTGTACTGTGGAGAAAAGAAATGTTAGATCTGT)$ . 15CO002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 22 10 0 45 43 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(5) CGGCGGGGGGAGCGCGCCATGCCCAGCAGGACCGGCCCCgAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCtCCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACC(TTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 15CO002 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 12 12 0 47 36 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismatches(1) CTTAAGGACAGTCGCTCCCTGAACGCGGAGCCGGAGGAGACGAAGGGAAGGTGGAGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CTTTGCTGCTTTGG?CCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGAGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 15CO002 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 11 0 29 150 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1),mismatches(1) GGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGC???AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 15CO002 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 18 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCAC(GTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 15CO002 ENSG00000136205.17 ENSG00000134588.12(3491),ENSG00000225949.1(40702) -/- ./+ chr7:47439487 chrX:133100598 CDS/splice-site intergenic translocation 9 3 0 75 10 high out-of-frame . Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%)| . . ENSG00000136205.17 . ENST00000311160.14 . upstream upstream duplicates(1) ^(ACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAG___CCGGAAGAATTAACCTCGAGTCTGCACGCTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCATGCCGAG___CCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAG___GTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAG___)GCTCCAGGGAGTTCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTGCG___GCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTCTGAGGAGTCCTACCTGCACAACCTACAGGAGGTCACGCGCATGCTCAAGTCCAAGCACGGGGACAACTACCTG|GACCGACCTCTATGGACTACTACATCATCCAGTCTGCCTTGTCTTTTGTCTTCCAGTTGTGTTAAACCACAGAGAAGCAGAG___AGATGAGAAAACTGAGACACAGAAAGGCTGAGTGACTTGCCCACGGTTGCACAGATAGTGAACAGGAGCACCGAGATTTGAACACAGACA MEEGHGLDLTYITERIIAVSFPAGCSEESYLHNLQEVTRMLKSKHGDNYL|drplwtttssslpcllssscvkpqrsremrklrhrkae* 15CO002 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 6 1 21 29 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),low_entropy(1),mismatches(2) CCGGGCTGGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGT(GCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 15CO002 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 7 3 0 11 27 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),mismappers(1) CCGAGGCCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGAC(TGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 15CO002 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 3 7 0 15 17 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream inconsistently_clipped(1) CCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACC(TTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 15CO002 ENSG00000117569.18 ENSG00000187733.6(40834),ENSG00000225191.1(127043) +/+ ./+ chr1:96777946 chr1:103799524 CDS/splice-site intergenic deletion 2 2 0 23 9 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000117569.18 . ENST00000609116.5 . downstream upstream mismatches(1) ^(CAGCCGCCATTTTCTCGCCGCTTGTGTGGCTCGCTGGCTGCGTGGCTCGGTTCTTGTGAGCGAAGCTTTGTCCGGTTCGGCAATGGACGG___AATCGTCACTGAGGTTGCAGTTGGCGTGAAG___AGAGGATCTGACGAACTACTCTCAGGCAGTGTTCTCAGTAGTCCGAACTCTAATATGAGCAGCATGGTAGTTACAG___CCAATGGTAATGATAGTAAAAAATTTAAAGGAGAAGATAAAATGGATGGTGCTCCTTCTCGTGTACTTCATATTCGAAAATTACCTGGGGAAGTAACAGAAACTGAAGTTATTGCTTTAGGCTTACCTTTTGGTAAGGTGACCAACATCCTTATGCTGAAAGGAAAAAATCAG___GCATTTTTGGAACTAGCAACCGAGGAAGCAGCTATTACTATGGTTAATTACTATTCTGCTGTGACACCTCATCTTCGTAACCAACCAATATATATCCAGTACTCGAATCAC)AAAGAACTAAAGACAGATAATACATTAAACCAA___CGTGCTCAGGCAGTTCTTCAAGCTGTGACAGCTGTCCAGACAGCAAcgACTCCTCTTAGTGGCACCACAGTTAGCGAGAGTGCAGTGACTCCAGCCCAGAGTCCAGTACTTAGAATAATTATTGACAACATGTACTACCCTGTAACACTTGATGTTCTTCACCAA___ATATTTTCTAAGTTTGGTGCTGTATTGAAGATAATCACATTTACAAAAAATAACCAGTTTCAAGCTTTGCTCCAGTATGGTGATCCAGTAAATGCTCAACAAGCAAAACTA|GACACAGTAAGAGGGGGACGGTCTGCAAACCAGAAGTGGACCCTCACCAGACGTGAGATCTGCAG___AGTCAATGGAAAGTACTTGAATAGCCTGGACTTCCTCCTACATCTTTACAGCACTGATG___GAAGAAGTTGTATACCAC MDGIVTEVAVGVKRGSDELLSGSVLSSPNSNMSSMVVTANGNDSKKFKGEDKMDGAPSRVLHIRKLPGEVTETEVIALGLPFGKVTNILMLKGKNQAFLELATEEAAITMVNYYSAVTPHLRNQPIYIQYSNHKELKTDNTLNQRAQAVLQAVTAVQTAtTPLSGTTVSESAVTPAQSPVLRIIIDNMYYPVTLDVLHQIFSKFGAVLKIITFTKNNQFQALLQYGDPVNAQQAKL|dtvrggrsanqkwtltrreicrvngkylnsldfllhlystdgrscip 15CO002 ENSG00000164684.13 ENSG00000245164.8 -/- -/- chr8:80821374 chr8:126113081 CDS/splice-site exon/splice-site duplication 1 1 0 18 3 high out-of-frame . . . . ENSG00000164684.13 ENSG00000245164.8 ENST00000327835.7 ENST00000651482.1 upstream downstream . ^(ACACAAGCTCAGGAGTAGCTGCCATGCACATCAGTGTCCATTAAAATGACTTGTAGCAAATCTCTACGTTCAAAGTCTAACTTTGACAGACAACCTTACTTCCAGCGAAGTCTACTCCCCTCCCTCCGGAGGGAAGAATGGGCTGCGGTTAAGCGTTTGCCCTGGTGTCAGGGCCAACTGCTTCGAAGCGCCAGACTTTCGGAGACTGTGG___GTGGGGAGCATTAAG)CGGGAAATGACCTTCACATTTCAGTCAGAGGACTTAAAACGTGACTGTGGTAAAAAAATGTCTCATCAACACGTGTTTTCCTTGGCCATGGAGGAAGATGTGAAAtCAGCAGACACCAAAAAAGCCAGCCGGATCCTTGACCATGAAAAAGAAAACACTCGCTCCATCTGTCTCCTTGAGCAAAAAAGAAAAGTTGTTTCCTCCAACATTGATGTTCCTCCAGCAAG|GGTTATAGCTACTCTTACAGAAGACATAAGAAGATATATACGCAGAGAAGACATCATAAGACCTGAAtATGAAAAACTTCTGATCACAGAAGAAAGATATACAACAG___CCTTGAAGCATTCTGAGAACCCAGTGAAGGCAATAATGTCTCTTCCCAGAGAAATTCACAG(___GTATCCCACTTCTAAGATGCCTGATCTGAAGGACAGTAAAACAACTGACCTTTGCCAGCATGTAAAACACATGGTTTAACTAGTCCTCCAGGAACAACACTGAGCAATCCTGACCTGGGACTACTTTACTCGGCCATCTCCTACTTGAGATGCTCCTTGTCTCTCTGTTCAAGGACACCTTTTCTGAGCCTTTCTTGAACAAGAGTGGAGGACCGATAGGGCGATTAAACTGTCCTTGACACAACTTTAGGTTGGTTTGCCTAAACTACTAGGTTCTCAATCTATATGAACCTCCTCCAGCATTCTAATTTGTTTGCTCTGTCTTAGACCCAGAATCCCACCCCATGTGCCTAACCATAGACCAATCTTCCTGCCTTAACTTCTCTGCTACCAATTTTGATGTAGCCCAGTAAGTTTCAGCATCATCCCTCACCACCCCACAGTCCCTCACCCTGCCCCCACCCCCACCACACACACACATACCAGCTCTTAGCATCAAATCCCCTTCCATTTTCCATAAGCATCTCTTCCCAGGTCTCTGCATATAAAAGCTATGTTTGCTCACCCCATGCCTGAGACTTTCCTGGCTTAGATCTTGAGCATCTTTCTATTATAAGATTCTCCCTTAGTAATGATTTCCTCACTTAACTTCAGATTTGTACATTTTTTTTTCATTGACAGTGCAAAAGATACCATTTAGGATTTGATTTTCAGAAGGTAAAATATAAAACATTGTCAGGAAATTCGAATACTTAATTAAGTAGGATAATGGATTACTGAGAAATAGTACTTGGTTATCTATTTAATCAAATGATGTAAAATAATTTTAGAGTAGATATAGGAGGTAACATAATTGCAAAGAACTTCATCTCTTTTATATGAAGACTGTTCTCTTAAATAATCAAGGACTCGAAAAAGTCAGCACAAAGCATGGAAAATTATTCTGATGAGATTCTGAATGTTTATCTTCTAAGAAGATTACTCAGAAGGTAAAGAAAAATATTTTACAAGCTCTTACTAAGAGAATACACTAATCCAAAAAAATTATTTTAATAGAGAATAAAACAAATTCTAGTTTTGCA)$ MTFTFQSEDLKRDCGKKMSHQHVFSLAMEEDVKsADTKKASRILDHEKENTRSICLLEQKRKVVSSNIDVPPAr|viatltedirryirrediirpeyeklliteeryttalkhsenpvkaimslpreihryptskmpdlkdskttdlcqhvkhmv* 15CO002 ENSG00000104408.10 ENSG00000230948.1(33309),ENSG00000104408.10(35793) -/- ./- chr8:108214607 chr8:108165423 CDS/splice-site intergenic deletion/read-through 8 3 1 1239 15 medium out-of-frame . PCI_domain(100%),eIF3_subunit_6_N_terminal_domain(100%)| . . ENSG00000104408.10 . ENST00000220849.10 . upstream downstream low_entropy(1) ^(CTTTTCTTTGGCAAGATGGCGGAGTACGACTTGACTACTCGCATCGCGCACTTTTTGGATCGGCATCTAGTCTTTCCGCTTCTTGAATTTCTCTCTGTAAAGGAG___ATATATAATGAAAAGGAATTATTACAAGGTAAATTGGACCTTCTTAGTGATACCAACATGGTAGACTTTGCTATGGATGTATACAAAAACCTTTATTCTGATGATATTCCTCATG___CTTTGAGAGAGAAAAGAACCACAGTGGTTGCACAACTGAAACAGCTTCAGGCAGAAACAGAACCAATTGTGAAGATGTTTGAAGATCCAGAAACTACAAGGCAAATGCAGTCAACCAG___GGATGGTAGGATGCTCTTTGACTACCTGGCGGACAAGCATGGT___TTTAGGCAGGAATATTTAGATACACTCTACAGATATGCAAAATTCCAGTACGAATGTGGGAATTACTCAGGAGCAGCAGAATATCTTTATTTTTTTAGAGTGCTG___GTTCCAGCAACAGATAGAAATGCTTTAAGTTCACTCTGGGGAAAGCTGGCCTCTGAAATCTTAATGCAGAATTGGGATGCAGCCATGGAAGACCTTACACGGTTAAAAGAGACCATAGATAATAAT___TCTGTGAGTTCTCCACTTCAGTCTCTTCAGCAGAGAACATGGCTCATTCACTGGTCTCTGTTTGTTTTCTTCAATCACCCCAAAGGTCGCGATAATATTATTGACCTCTTCCTTTATCAGCCACA___ATATCTTAATGCAATTCAGACAATGTGTCCACACATTCTTCGCTATTTGACTACAGCAGTCATAACAAACAAGGATGTTCGAAAACGTCGGCA)GGTTCTAAAAGATCTAGTTAAAGTTATTCAACAG___GAGTCTTACACATATAAAGACCCAATTACAGAATTTGTTGAATGTTTATATGTTAACTTTGACTTTGATGGGGCTCAGAAAAAGCTGAGGGAATGTGAATCA___GTGCTTGTGAATGACTTCTTCTTGGTGGCTTGTCTTGAGGATTTCATTGAAAATGCCCGTCTCTTCATATTTGAGACTTTCTGTCGCATCCACCAGTGTATCAGCATTAA|GAAACAAGGAAGAAGTGAGTCATCTGAAGGACTGATGGGAGAAGAGAATGTCTTGATATTTGCCAGTGAGTTTTTCTCAAcAGGGCTGTTAGCCACATTCTATTTTTCTTCCTgTACTACATCCAGTCACTTATGGTGACACAGAGAGCAGAATAGTATGGATAC...GGCTGGAtTGTGGTGGTGTGATCACAGCTCACTGTAGCCTTGAACTCCTGAGCTAAAGGGATCCTCCTGCTTCAGCCTCCAGAGTAGCTGGGACTACAG___TACATAGATGAAGAAACCCAGCTGCGTGCACGTGTGTGGAtTACTCTTGGG MAEYDLTTRIAHFLDRHLVFPLLEFLSVKEIYNEKELLQGKLDLLSDTNMVDFAMDVYKNLYSDDIPHALREKRTTVVAQLKQLQAETEPIVKMFEDPETTRQMQSTRDGRMLFDYLADKHGFRQEYLDTLYRYAKFQYECGNYSGAAEYLYFFRVLVPATDRNALSSLWGKLASEILMQNWDAAMEDLTRLKETIDNNSVSSPLQSLQQRTWLIHWSLFVFFNHPKGRDNIIDLFLYQPQYLNAIQTMCPHILRYLTTAVITNKDVRKRRQVLKDLVKVIQQESYTYKDPITEFVECLYVNFDFDGAQKKLRECESVLVNDFFLVACLEDFIENARLFIFETFCRIHQCISIk|kqgrsesseglmgeenvlifaseffstgllatfyfsscttsshlw* 15CO002 ENSG00000171813.14 ENSG00000171813.14 +/- +/+ chr10:132412502 chr10:132417130 intron 3'UTR inversion/3'-3' 1 8 0 13 23 medium . . . . . ENSG00000171813.14 ENSG00000171813.14 . ENST00000305233.6 upstream upstream . GGCTTTTCTGCAAGAATTCCAGTGAGTAAATGAAGACCAGGGCCAGCACCTCGTAATCCCTCCTGAAAGAGCAAATCTTAAAGTGATCACCAACGGTAGGCGGAGCCCCAGGGTGAAAcCCTGGGTGAACTTGATCGGGAACGGATTAGGCCAACAACCCCAAGCCCACAACCAACCCCCGGGTCTCCAGGAGAGAACAGCCT|TCTGGCCGGCTGCGTGCAGAGCCCACTGGGCACGGTGGTCGGCCTGGTGTGAGGCCCCCCGGGGACCGGCAGTGTGTCCAGGGAGGGGATGGCCCTGAGCCCAGCGGCTCCTCCCGCTGAGTGTATTTCTTCCCACCACTCAGCGCATGGCTGCCCTGGCTCACGAGGCAGTCGGGACTCGTGACTTGCTGG(CTGCTGGCTGCTGCTGCCTCGCGCGCTGGGGTTCCATGGAGGAACTGGGCCTGCCGCCCCGGCCTCACCTGCTGCCCGCATGCTGGGGTCCCATGGAGGAACCAGGCCTGGCGCCCCGGCCTCGCCCAGCGGCTGGTGTGGGCAGCTGTTCCCTGCCTCGCAGTGTCCTGGAGGCAGCTGTCTCGCAGACTCAGCTTGGTCTCCCGCAGGCTTCAGAAAAACCCAATTGCACGTGTGGGATTCTTCCCCAGCCCTTGGGTGCGGGGTCTCTGTGCACTTGAGAGCTGGGGGACCCACCCACCGTCTCCCACTCCAAGTTCATCCCAGAGCGTGGGGCCCGCTGGGCACCTGGCACCTGGCCTGCAGATGCTGCTACGAGTGACCAGTGCTGTGTGGAGGAGGCCAAGGGCGGCCCCTGGGAAACCGGGCTTCAACAGTACAAGGAAAAGAAACTTGCTCTGTTTTGTAAGAGCGTGTTCCTTTTCCTCTTTTTTGTCACTTTAAAGACCAAAAAGAATAAAGAAAGAAAAGAAAAAAA)$ . 15CO002 ENSG00000181690.8 ENSG00000206579.9(93702),ENSG00000167904.15(102988) -/- ./- chr8:56211121 chr8:55635756 5'UTR/splice-site intergenic deletion 0 3 0 4 3 medium . . . . . ENSG00000181690.8 . ENST00000316981.8 . upstream downstream . ^(GCATACACTACAATGGCTGCTGGAAAGAGGCGTAA)GGAAACAATTTCCAGGCCCGCCGCGTCCAGCCCGAAATATGAGAAAAAAATTATTAGAAATTCCGCGGGCGGTGTAGAGGCGGCGGACGGGCCGGAGGGAGGATGTTAAAGCCCCGCG|CTGTCCGGCCTCAGGGTGTCTTCATGACTGTGGTTTCCTTGTGCAGTGACCGTATGTGTGTGTCAAACAGCCTCAGTGCTTATGGGCTGACCTGCAGGTCTGCTACAGGAATGTATTAG___ACTTTGGAgACGATGTTTGACAAAAAGCAAATTTGAGCGATTTTCTTGTTCGAGTTCGAAATGGGTCATAAAGCAACAGAGACAACTTGCAAC . 16CO002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 24 15 0 48 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(2),low_entropy(1),mismappers(1),mismatches(2) CTGGGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16CO002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 14 0 67 41 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___GGGTCAT)TGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 16CO002 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 4 17 0 48 109 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream duplicates(3),mismatches(2) ACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGG(AAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 16CO002 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 12 0 22 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 low_entropy(3),mismatches(1) CGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCtGCTGCAGCCACATGTGGATAGCCA(GGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 16CO002 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 10 0 21 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGG(ACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 16CO002 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 6 8 0 15 30 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream . TCCCCGGCGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGAC(AGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 16CO002 ENSG00000134982.17 ENSG00000252337.1(102047),ENSG00000251027.2(166356) +/+ ./+ chr5:112801383 chr5:106648850 CDS/splice-site intergenic duplication 1 2 0 12 4 high out-of-frame . Adenomatous_polyposis_coli_tumour_suppressor_protein(100%),Coiled-coil_N-terminus_of_APC__dimerisation_domain(100%)| . . ENSG00000134982.17 . ENST00000257430.9 . downstream upstream duplicates(1) ^(ACTGGAGACAGAATGGAGGTGCTGCCGGACTCGGAAATGGG___GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGC)AGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG|CATCCTGGGACCTCTGCCTTCCTGGTTTTATGCTACTCACAACAGGCTGAATACAGTACATTATGCCTTCTTACAGGAC MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQ|hpgtsaflvlcysqqaeystlclltg 16CO002 ENSG00000160973.8(2704),ENSG00000160972.9(11477) ENSG00000160972.9 ./+ +/+ chr8:144478553 chr8:144490034 intergenic 5'UTR deletion/read-through 21 8 2 38 118 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(3),low_entropy(2),mismatches(1) GACGCGGCTGCCGGCACGCGGGCGCCCAGGGCACAGGTCCCGCCGGGCCGCCTTGGGCGTTGCTGGCTGAGGCCCAGGGCAGCAGGTGCCAACGGTCAGGAAAGGCAGGGAGCCGAAGGCTGCCGGTGGGCGCTTCGCGTTTTGTTCCAAGGCGAAGGTGTGTGGATTCTCCGCAGCCCGTCGGTCAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGG(AGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 16CO002 ENSG00000204842.18 ENSG00000089234.16 -/- -/- chr12:111598784 chr12:111644562 CDS/splice-site CDS/splice-site duplication 0 4 0 3 49 medium in-frame . . . . ENSG00000204842.18 ENSG00000089234.16 ENST00000550104.5 ENST00000419234.9 upstream downstream . ^(ACCCCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCCCTCCGACTTCCGGTAAAGAGTCCCTATCCGCACCTCCGCTCCCACCCGGCGCCTCGGCGCGCCCGCCCTCCGATGCGCTCAGCGGCCGCAGCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTCGCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGGCGGAGCGGGCGGGGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGGCAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGTCTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCGCTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTATGGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCC)TCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAG|GTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACC(ATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTAATGACCATTTTGCCTTCCTGCTTGGTAGAAGCCCCAACTCTGCTGTGCATTTTTCCATTGTATTTATGGAGTTGGCGTATTTGACATTCAGTTCTGGGGTAGGTTTAAGATGTTAAGTTATTTCTTGTAACCTCAAAGGTAAGGTTATCTAGCACTAAAGCACCAAACCTCTCTGAGGGCATAACAGCTGCTTTAAAGAGAGGTTTCCATTGGCTATTAAGGAGTTATGAAAACTCCCTAGCAATAGTGTCATATCATTATCATCTCCCCCTTCCTCTGGGGAGTGGAAGAATTGCTTGAATGTTATCTGAAAAGAGGCCTGGTAGTAAACCAGGCCCTGGCTCTTTACCAGCAGTCATCTCTTCTTGCTCTGGGGCCAGCCAGGAAAAACAAACAACCCGGGGCACATTGGGTAGACTCAGTGTAGGAAAAATGGTGGCAGCTCCACTGTTTATTTTTGGTGACTTCGTACATCATTATGAACCGCAATTAAGGAGGAGGCTTAATGGCTGTTCCCAAACTCAAATCTCAGAGTGGGTATCCTAGCATCTAGCAAGACTGAGTGGGGAGATTTCTCATCCGTGTGAAAATGTAGAGTGAGGCCTCTGACTAGCTAATTGTGTATTTTGTTGGGTTTAGTATTTTCTAAATGTTTACAAAATATTGGGCTGCATGTTCAGGTTGCAGCTAGAGGGAGCTTGGGCAGATTTTCAATTACGCTTTCAAGATATAACCAAAAGCTGTTTCTAAATCCTAAAATTAGAATTTCAACAGAGCCCCCTTTAGAACAGTCATATAACGCTTGTGTGGGCCAACAGAGGGGCTGTGTACTCTCTCTGGAACCATAAATGTCAAATAATTTATAACCTGCAGTAATTGAGCAAACTTAAAATAAGACCTGTGTTGGAATTTAGTTTCTTGAAGAGGTAGAGGGATAGGTTAGTAAGATGTATTGTTAAACAACAGGTTTTAGTTTTTGCTTTATAATTAGCCACAGGTTTTCAAATGATCACATTTCAGAATAGGTTTTTAGCCTGTAATTAGGCCTCATCCCCTTTGACCTAAATGTCTTACATGTTACTTGTTAGCACATCAACTGTATCACTAATCACCATCTGTTTTTGTGGGATGTGCTGCAGCATTTCCCAAAAAACTTTACGTGTAATGTTGCAAAATGAATGTACTCAGACATTCTTAATTTTTACTTAGGGCAGACCAACTCTTTGAGTCTCTCTTGGACTTATATATACAGATATCTTAAGAGTGGGAATGTAAAGCATAACCTAATTCTCTTTCCTATAGAGATTCTATTTTATTTAAAATCTATTTTTACACTAGTTAGAATCCTGCTGTTTTGGCCAAGTACTTGTCTTGCATGTCTGACCTTGCAGAAGCTGGGGTGGATCATAGCATACTAATGAAGAGAATTAGAAGTAGTTTACAAAGCTCGCTCACTCCTCATTTCTCTGTGATCCCTTCTATCCAGTGGCCCCACCACCACCTGGGAAAACAGATTTTTCAGTACAGGTGGGATAAATGCTCTGAAAGGCTGTGCCCAGAGGAATGAGCAAATAGGCAAGTGTTTCCAAACTACTTGGAGGTTTACAAAAAATATGTCCCAGAAAAAAAAAAAATCTTACCAAGATACGTAAAGAAAAAAAAATTTTTTTTTAAACAGTCAAAGAGTCATGTTTGAATTTCACAAAATCACATCAGACAGAAGTTGTTTTCTTCAGGAGGGAAATGAACCACTTAATATACCCATACTACCTTGAACAATGAAATTGAATTAAAATAGCCAAACTTTGAAATTA)$ MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGr|CTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPAETRQEIQEGQINIAMASASSPASSGGSGKLPSRKGRSKRGK* 16CO002 ENSG00000240086.7 ENSG00000031081.11 -/- +/+ chr3:135379262 chr3:119365316 exon/splice-site CDS/splice-site inversion 0 2 0 10 21 medium . . |RhoGAP_domain(100%) . . ENSG00000240086.7 ENSG00000031081.11 ENST00000655873.1 ENST00000264245.9 upstream upstream . ^(ACATCTATTTGGGGAGGAGCCAAGATGGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCTGTCTACAGCTCCCAGCTTGAGCCACGCAGAAGATGGGTGATTTCTGCATTTCCATCTGAGGTACCAG___GCTACACCCTGCAAGGTCATTATCATTAGCTGCACTTTACAGGAGAGGAAGCTGAGGCTCAGAGAAG___CAAACTGCCCTCCTACTTATGTTGAAGACTTTCCCATCCTATGAGCCCAGGTGGGAGAAGCTGAAAATGGCAGAAGGTCACTTTTCCAGCTGCCCTGTGCC)TGGTGAGCCTGTGACACAGACCCCGTTGCTCACATATCCACCCAGTTTGGTGCCATAGGTGGTAG|TTCCATACGTTTTGAAGAGCTGTGCAGAATTTATAGAGACTCACGGCATCGTGGATGGAATCTATCGGCTTTCAGGAGTCACCTCAAACATACAACGGCTAAG___GCAAGAGTTTGGCTCAGATCAATGTCCAGATCTGACAAGGGAAGTGTACCTCCAGGAC(ATCCACTGTGTGGGCTCGCTTTGCAAGCTCTACTTTAGGGAGCTGCCCAACCCCCTCCTGACTTATGAGCTCTATGAGAAATTCACG___GAGGCAGTGTCGCATTGCCCTGAAGAAGGCCAACTGGCCCGAATCCAAAATGTTATCCAGGAGCTTCCTCCATCCCACTATAG___GACCTTGGAATACCTGATTCGACACCTGGCCCATATCGCCTCCTTCAGCAGCAAGACCAACATGCACGCCCGGAACCTGGCCCTGGTGTGGGCGCCAAACCTCCTCAG___GTCTAAAGAAATTGAAGCCACTGGTTGCAATGGAGATGCAGCCTTCCTTGCAGTCCGGGTCCAGCAGGTGGTGATTGAGTTCATATTGAATCATGTAGATCAAATCTTTAACAACGGTGCACCTGGGTCTCTGGAGAATGATG___AAAACCGGCCCATCATGAAGAGCCTGACCTTGCCAGCCCTCTCCCTGCCCATGAAGCTGGTGAGCCTTGAGGAAGCTCAAGCCCGCAGCCTGGCCACTAACCATCCTGCTCGCAAGGAAAGGAGGGAGAACAGCCTGCCTGAGATTGTCCCTCCCATGGGCACCCTCTTCCACACTGTCCTTGAGTTACCAGACAACAA___GCGAAAGCTCTCCAGTAAATCAAAGAAGTGGAAATCAATATTTAACCTGGGACGTTCTGGATCAGACTCCAAATCAAAACTGAGTAGAAATGGGAGTGTATTTGTGAGAGGACAGAGGCTCTCGG___TGGAAAAGGCTACTATCCGACCAGCTAAAAGCATGGACTCACTATGTTCAGTGCCTGTGGAAG___GAAAAGAAACCAAGGGAAATTTCAATCGAACAGTTACCACCGGTGGATTTTTCATTCCAGCAACAAAGATGCACTCCACCGGCACCGGCAGCTCATGTGACCTCACCAAGCAGGAGGGCGAATGGGGCCAGGAGGGGATGCCTCCCGGGGCTGAGGGTGGCTTTGATGTGAGCAGTGATCGCAGCCATCTCCAGGGCGCTCAGGCCCGGCCCCCACCGGAACAGCTGAAGGTTTTCCGGCCTGTTGAGGATCCGGAGAGCGAGCAAACAGCCCCAAAGATGTTGGGTATGTTCTACACTTCGAACGACAGCCCTAGCAAATCCGTCTTCACCAGCAGCCTCTTCCAGATGGAGCCCTCGCCGCGTAACCAGCGCAAGGCGCTGAACATCTCCGAGCCCTTTGCGGTATCTGTGCCGCTCCGCGTGTCCGCAGTCATCAGCACCAACAGCACGCCGTGCAGAACACCCCCGAAGGAGCTGCAGTCTCTTTCCAGCCTGGAAGAGTTTTCTTTTCATGGATCAGAGAGCGGAGGCTGGCCAGAAGAAGAGAAACCGCTGGGAGCTGAGACTTCTGCAG___CTTCTGTACCTAAGAAGGCAGGTCTTGAGGATGCCAAGGCAGTACCTGAAGCACCGGGGACAGTGGAATGCAGCAAAGGCCTGTCCCAGGAGCCAGGCGCCCACCTGGAGGAGAAGAAAACCCCAGAAAGCTCCTTGAGCTCTCAACATTTAAATGAATTAGAGAAGAGGCCAAATCCGGAGAAGGTGGTGGAGGAGGGACGAGAGGCTGGTGAGATGGAGTCCAGCACCCTGCAGGAGAGCCCCAGGGCCAGAGCCGAAGCTGTGCTTCTCCATGAGATG___GATGAAGATGATCTGGCCAATGCCCTGATCTGGCCTGAGATTCAACAGGAGCTGAAAATCATTGAATCTGAGGAGGAGCTCTCATCGTTGCCACCTCCTGCTCTGAAGACCAGCCCAATTCAGCCTATTCTCGAGTCGAGTCTGGGGCCCTTTATTCCCTCAGAGCCTCCTGGGAGCTTGCCTTGTGGCTCCTTCCCTGCTCCAGTCTCCACCCCTCTGGAGGTGTGGACTAGGGATCCAGCCAATCAGAGCACACAGGGGGCTTCCACAGCAGCCAGCAGAGAGAAGCCGGAACCTGAGCAGGGCCTGCACCCAGACCTCGCCAGCCTGGCTCCTCTGGAAATAGTTCCTTTTGAGAAGGCATCTCCACAAGCAACAGTGGAAGTAGGAGGCCCAGGCAATCTGTCTCCTCCACTCCCACCTGCTCCTCCCCCTCCAACTCCTCTGGAGGAGTCAACTCCAGTCCTGCTTTCAAAGGGCGGCCCGGAAAGAGAAGACTCATCCAGGAAATTGAGGACAGATCTCTACATAGACCAGCTGAAGTCCCAAGACAGCCCTGAGATCTCTAGCCTCTGTCAGGGAGAGGAGGCAACCCCAAGACACAGTGACAAGCAAAATTCAAAGAATGCTGCTTCTGAGGGGAAAGGCTGTGGTTTTCCAAGCCCAACCAGGGAGGTTGAGATCGTCTCACAAGAAGAGGAGGATGTAACCCATTCAGTACAGGAGCCTTCAGACTGTGACGAAGATGACACTGTGACAGACATTGCCCAGCATGGCCTGGAGATGGTGGAGCCCTGGGAGGAACCCCAGTGGGTGACGAGTCCCCTTCACTCTCCCACCCTGAAAGACGCGCACAAGGCCCAGGTACAGGGCCTTCAGGGTCACCAGTTGGAGAAGAGGCTTTCCCACAGGCCCAGCCTTCGCCAGAGCCATTCTCTAGATAGCAAACCCACGGTTAAAAGCCAGTGGACTCTCGAGGTTCCCTCCTCCAGCAGCTGTGCTAATCTTGAAACAGAGAGGAATTCTGACCCTCTTCAGCCCCAGGCACCCAGGAGAGAGATTACTGGATGGGATGAGAAAGCCCTGAGGTCCTTCAGAGAGTTCTCTGGCCTGAAAGGGGCAGAGGCTCCTCCCAACCAGAAGGGACCAAGTGGTGTGCAACCCAACCCAGCAGAAACCAGCCCCATCAGCCTAGCAGAGGGAAAGGAGCTAGGGACACACCTGGGGCACAGCAGTCCACAGATTAGGCAAGGTGGTGTTCCTGGGCCAGAGAGCAGCAAGGAGAGTTCACCCAGCGTGCAGGACAGCACTTCGCCTGGAGAGCACCCCGCAAAGTTACAGCTAAAGAGCACAGAGTGTGGGCCCCCAAAAGGGAAAAACAGGCCTTCTTCCCTCAACTTGGACCCTGCCATTCCCATTGCTGACCTCTTCTGGTTTGAGAATGTGGCCTCATTTAGTTCACCTGGAATGCAGGTCTCTGAGCCAGGAGACCCAAAGGTCACATGGATGACCTCATCTTACTGTAAAGCAGACCCCTGGAGGGTTTACTCCCAGGACCCCCAGGACCTGGACATTGTTGCTCATGCACTGACAGGCCGCCGTAACTCAGCTCCTGTGAGTGTGTCAGCTGTGAGAACCTCCTTCATGGTCAAAATGTGCCAGGCCAGGGCGGTCCCAGTCATCCCTCCCAAGATTCAGTACACCCAGATCCCACAGCCCCTGCCCTCTCAGAGCTCAGGGGAGAATGGGGTTCAGCCTCTGGAGAGGAGCCAGGAGGGACCCAGCTCAACCAGTGGGACCACTCAGAAACCTGCCAAAGATGATTCTCCCTCCTCCCTGGAAAGCTCAAAGGAAGAAAAACCAAAGCAAGATCCCGGAGCCATTAAGTCCTCACCAGTGGATGCCACTGCACCCTGCATGTGCGAGGGACCTACCCTTTCTCCAGAACCAGGCTCGTCTAACCTGCTCTCCACCCAGGATGCAGTAGTGCAATGCAGAAAGCGCATGTCAGAGACAGAGCCATCTGGGGACAACCTTCTTTCTTCAAAACTAGAGCGACCATCTGGGGGTTCTAAGCCTTTCCACAGGTCAAGGCCAGGAAGACCTCAGAGCCTAATCTTATTCAGTCCTCCTTTCCCCATTATGGACCACCTGCCCCCTTCATCCACAGTGACAGATTCCAAGGTCCTGCTGTCCCCTATCAGAAGTCCCACCCAGACAGTTTCCCCTGGCCTTCTTTGTGGAGAGTTGGCAGAAAACACATGGGTCACACCAGAAGGGGTTACACTTAGGAATAAAATGACCATCCCTAAGAATGGCCAGAGACTAGAGACCTCAACCAGCTGTTTTTACCAGCCTCAGCGGAGATCAGTAATTCTGGATGGAAGAAGTGGGAGGCAAATAGAATGATTTCGGTTCACCTGCTGGTGTCTGAAAAAAACCGTGATTCATCTGGAAGTTATTACAGGGCCAGCTTGCCATATTCCAGGCACACGTTATCAAGTTTGGGCCTATTGTGGCCTCTGACTTCTCTTTCTTCAGCCTTTTGACCACTTATTAATTAGTCCATTTGCTAGAAGAGTGGTCAAGGGAAAAACGAGAGATGAAATTTAGTTAAGTCTATGTGAGCAAGTGAGAGAAGGTTAGGTAAGGGGAGAGGATGGAATGCTTGCCTCCAATGAACTTTGGAGCTTGTATGTGAGTCAGATTGCTCCCCTATTGCTATTATCTATTACTCTTGAGAGCTGGCTGTCCTTTGAAAGAAAGAAGTAATGTTCTTTGAAAGAAAGAAAAATCTCTTGCTGTGTCAAACCTCAAAATGTTGCTATTGGGGTTAGAAGGCCTCCTCTTTATGCTTTTTAATGCTCTTTCAAACGTGTTCTTTTAGACCAGTTTTCTAATAAGCTTTGTAAAATGTACTATCCAAATTAGAAGCGGATTTGGAAATGCAAACTAACGTGCACTTAGATATCCAAGTGGGTGAGCTTAGCCACTCTTACCCATGCTCTTTCCCTGGAATCCCTGGAGACCTGTCCAAGATGATTTCCATATACCAGCATAGAAAATCAGAATCAAGAGCAAACTCTGAGACTGGCACAATCCAAGAAGATTTCCTGGCTCTGGCTTTTAGTAATTTGGGACTCCAACTGCCACTGTACTGGACTGTAATTTATAAATCCAGTAGCTACGCAGGGTGGAGGCTGGGCTGAGGATTACCATAATGAAATGTACTAAATCTTCATTTAGGTATGCAATTGTGAAGTGAAGGCATCTGCTTTCTTTACAGTATCAGAGTCCAAGAACAGGATGTCACCATAGATAAAAGCCTCATACAAAGGCAGAACTACACTCCAAATTTAATGTGTTTAAATTGGTGGGGCACCAGCAGAAAATATTCTAGCTCAGCTTTACTCTTCTTCCACACTAGGCTGGGCCCAGCAATACAGGAGAGGATGAAGGGAGGAGCTCCAGGAGGCGAGGGAAGAGCCCTAGCAGGGCGGCCATCACAACCACTCACTGAGAGTTGCCCTTCTTAAAAATGTATTTTATTTTAGCCAGTGGGTCCCTTCCTTTCTCCTTTCCTCTCTACTGCTCAAGAACAGATTTGAGGCCAGGTGCGGTGCCTCACATCTGTAATCCCAACACTTTGGGAGGCTGAGATGGGTGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCGAGACCCCATCTCTTAAAAAATAACAGACTTGAGGAACCCCTCTCCCTTCCATAATTCCCCTCATCCACCGCCCACTCCAGGCACTCACTCAAACTTGCTCTTCAACTCTGTATACAAGCAGAAGCAATAAACCAATCTGATTTTCTTTTCAATTATTTATAACTTTCAATGGTTCTTTCCTTTCCAGCTGGCGAGAGAAAGGAGAACTAATATACCTGCTGGCAGATTTTTGGTGCTGCCCAAAAAAGGACTTCACAGGGCATCTCTTCTCAGGTTCAAGCCTGGCTGAATTCTGCCCAGAAGCTCAGTCATTGCAGAAATTTCTCTAAGGGCTGATAGTACCTCTGGGTAGGCGTCACAACCAAGGCTGGTTCTGGGCTTAGTGGGGGCTGAGATGAAGTTACCTCCTCCAATGAGAAATTGGGAGCTGATGCCCTGCAACAGATATATATTCCTCTCTCTCTCTGTCTCTCTATCTCTCTCCTCCCTCTCCCTCCCTCCCTCCCCGCCAATAAGCCTTACAAACAGTTTTGAAATCTTGTTCTGTACCTTTTAAGCCAGTGTCTGTGGCGAGGGTGACTGGCAAGTCAGCTGATGAGTTCTGCCTTCTGAGAGCACTGAGTGAGCAAGGCCTTTCATCAGTGTTTTGGCCTTCTCATTGGGTGAGGAAGACATTGAACCAACAGCCAACGAGATATGAACCTGTAAGAAAAAAGTCCTAGAATATAGTATTTTTCCCCAGGCCAGCAAAGTGAAGAAATACAGTGGTGACAGATGAGAAAGGCCATGTTCAAGAGATCTGAAAAGTACATTCCTGCCTTATCAGAAAATGTGTCAGACAGGTTTTATGTCAGCCTCAGTGCTCCTGCGGTGTCGACGCTCTGATAAGGACCATGTTCCAGTTAGAATGCGAGGGAGGGAAAGAGCTGCACTTTGCTTCACCATCAGAACTCTGAGCCAAATAATGAATATGTAAACTATTTTATGATTATTTTAAATGTTTGTTTGGTAACATTTATAAGATCTATTTTTATTTGGGGATAGACTGAGAAGCCACCATTTACATATTAACAAGTGACTTCAGTTCTAAGGGTTGAGATGCCTGTGTGGATTTATAAAATGGTTGCAAGATCTTTTAGACTCTGACATTTATAGCATCACCTTCAGGAACACAGTTCTGGGGATGTCATCATGAGACACACTGACAGCTGTGGAGATAGTCCCTACTCTCAGCTTTCCTTGCTAGTCAAGTCCAAAAGGCCTTAGAAGCTGACTCACCTTCTCAGCCAGAGTCCTGCTGCTCAAGTGTGGACCTCCACTTTGACTCTCACCCAGCCTGCCAGCCATCACAAAGGCTTTCATAAACTTCCTGTGGTCTGGGCTAGCCTGGCACTGATGAAATTCCATTCTAAAGAAAGAAAACTCATATTCCTCCCCCCCACAAATTGTTCCCCCAAATGCTCTGGGATTACCTATTTCACCACTCATTTGAGTCTCCGAAAAATGAACTCCCTGAGAATGGCTGGATGGGAATCAGATAGTCTGCTTCCATTCAGGAGAGGGACAGAACAGGAGCTGCTGTGTTTAGGAGGATTTACCTGGTGCCCTAGAAAGGGCTATGCAATCAAATTCTCAAGGGCTCCTTCAAATCAGCTATCAGTCCTCAAAATGGGGGTTGCTGATGTTAAATGATGGATTTGCAGTGAAACGCATGCATGTACTGACGTTTTCTTTCAGCATTAGTGGTTGCTTAAGAAAATAGTAACCTATATTTTCTGCTACACTTGGAATATGAAGAAATCTGAACAAGAACCCCATTAAGACACCTAACCTAATCTAAACCCTAAAATTCAAAATATTGTCCAAGTCAAAAGTCTAGACTCTGAGGACATTAAAAATGTAAATATCATCATCCTTAGCAAATATTTATTGGGAGCTTAGTAATAGTGCACTGGGTACCTTAGCACTCCCAAATCATTCAAGAGTCTAGTGAAAAAGGGGGAGGGATGGCAGCAAATAAAACACCCCCATAAACAACCAGGAGCAAGGTTGAGAACCATTAAGTTGCCAAACAAAAGCAGAAGGGGAAAAAGTGTGGCAACAAGCATCTTTTAATAGGATAGTTGACGGTATTCAAGTGACCTACTGACTCCAAATAATCAAATTGAACACAATTGCAAATCCAATAGAACATCCCAGTGAGACACTCGGGTATTTGAGAACTTTGCTTGATTTAGAAAACTGGAAAGTGGCAACTAGGCTAGAATAGTGGCAACTAGGTTCGGAGGTTTCGTGTGGTCATAATTGGTTTGGTGAAGTGTGAGATCTCTGCAAATGAGCCAGGTAAGATCAGTATTCCATAGTGCTTGAAAAGGGGATTTTAGAGACTTCTGTCATCACAAAGCAGATTAACTCCTAGTTAATGATGAAGCAGTAGGCCCAAGATAAACTGTTCAATTCAAGATAAATTGTTCTTGTCAGTGTTTGGCATATGATAATCACATTTGGCTAAAATTGGATGGGACAGTCATTTGTCTACACAGGCCTTCCATTCCTGCATGAAGAGATACTGGGGAGCATACAATTATTTTGTCCAGTATTAGAGTGGGAGAAGTTCTCAGTAAGTCCAGTCCCACCAGGATTTATTTGGGCCACATTCTACCACGGCCAGTCCAATCTGATGACCACATGAATTGGGGTTAAGTGTTGCTAAGACTATGATTTTAGACATGTCTGGCAGGAAGGTCAGCTCAAAATGTGGCATGACAAAGAATATGTGCTCTACTACCAAAACCTTTCCTAGCAAAACAAGGCCAGAAGAGGGAGCAAGCATCTTTCCAAGCATGGAGAGGAGGGGGCAATGGTGGAAGGGTGATTGCCTGAAATCAGTGCCAGTACAGATAGCATAAAATTGGGGGCCACCACAGATTGGCTGGCTACTGTGTAGATCATTTAGTAATCTTGAGGTACATTAATAATGCAGAGATTACTTTTCTGTGAGGGTAAGGGGGACGTAGCTAAATATAAGAAGCTTACAAGGTCCATAGCCATGTATTTTACTGGATAAATCACAATGCTTTGCAATAACTTAATGTCATAGTACTTTCTGGCTTATAATTCTGCAAAGTAAAGCACTTTTTCAAAGGA)$ . 16CO002 ENSG00000134982.17 ENSG00000252337.1(512),ENSG00000251027.2(267891) +/+ ./+ chr5:112801383 chr5:106547315 CDS/splice-site intergenic duplication 1 1 0 12 1 medium out-of-frame . Adenomatous_polyposis_coli_tumour_suppressor_protein(100%),Coiled-coil_N-terminus_of_APC__dimerisation_domain(100%)| . . ENSG00000134982.17 . ENST00000257430.9 . downstream upstream . ^(ACTGGAGACAGAATGGAGGTGCTGCCGGACTCGGAAATGGG___GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACA)GTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG|TACAGATCTTAGTCATCTTTAAAGAAGAACACATCCATCGCCTTATCTTTGTTGCTCACAGACTACCTCTTGAACTCCTGTCCTACTCACTGGATGTATTAAAATGTTAATGTATATTCT MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQ|yrs* 16CO003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 13 1 40 49 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(10),mismappers(2),mismatches(1) GCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATG(GAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16CO003 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 4 11 0 18 36 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(2),inconsistently_clipped(1) CGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCG(GCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 16CO003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 12 0 22 98 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3) GGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAA(TCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 16CO003 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 5 0 25 21 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(4) AGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGC(CCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 16CO003 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 32 23 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(7),mismatches(1) CTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAG(GAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 16CO003 ENSG00000103168.16 ENSG00000119927.14 -/- -/- chr16:84186901 chr10:112166515 5'UTR/splice-site CDS/splice-site translocation 2 4 0 16 27 high . . . . . ENSG00000103168.16 ENSG00000119927.14 ENST00000541676.5 ENST00000348367.9 upstream downstream duplicates(1) ^(AGGAGGCACTTCCGGTCCAAACCGGAAGACCGTGGGTAGCTGCGGCGG)GGCTGACCCGTCCCGAGTGCCAAAGCTGGGGTTCTACTTGAGATTTCCCTCGTGGTGCCAGGGTCCGGCGAGCATCACGCCGAGGCCCATTTTCCAGACGACCACGACGAGGCCGGGGTCAC|GGCAAACCTAAGAAGAATGAGAGCCTGTGGAGTGTAGCAAGAGGTGTTATTAGAATGTTACGAAAAAACTATGGTTGTGTCCGAGTGGATTTTGCACAGCCATTTTCCTTAAAG___GAATATTTAGAAAGCCAAAGTCAGAAACCGGTGTCTGCTCTACTTTCCCTGGAGCAAGCGTTGTTACCAGCTATACTTCCTTCAAG___ACCCAGTGATGCTGCTGATGAAGGTAGAGACACGTCCATTAATGAGTCCAGAAATGCAACAGAT(GAATCCCTACGAAGGAGGTTGATTGCAAATCTGGCTGAGCATATTCTATTCA___CTGCTAGCAAGTCCTGTGCCATTATGTCCACACACATTGTGGCTTGCCTGCTCCTCTACAGACACAGGCAG___GGAATTGATCTCTCCACATTGGTCGAAGACTTCTTTGTGATGAAAGAGGAAGTCCTGGCTCGTGATTTTGACCTGGGGTTCTCAGGAAATTCAGAAGATGTAGTAATGCATGCCATACAGCTGCTGGGAAATTGTGTCACAATCACCCACACTAGCAGGAACGATGAGTTTTTTATCACCCCCAGCACAACTGTCCCATCAGTCTTCGAACTCAACTTCTACAGCAATGGGGTACTTCATGTCTTTATCATGGAGGCCATCATAG___CTTGCAGCCTTTATGCAGTTCTGAACAAGAGGGGACTGGGGGGTCCCACTAGCACCCCACCTAACCTGATCAGCCAGGAGCAGCTGGTGCGGAAGGCGGCCAGCCTGTGCTACCTTCTCTCCAATGAAGGCACCATCTCACTG___CCTTGCCAGACATTTTACCAAGTCTGCCATGAAACAGTAGGAAAGTTTATCCAGTATGGCATTCTTACAGTGGCAGAG___CACGATGACCAGGAAGATATCAGTCCTAGTCTTGCTGAGCAGCAGTGGGACAAGAAGCTTCCAGAACCTTTGTCTTGGAGAAGTGATGAAGAAGATGAAGACAGTGACTTTGGGGAGGAACAGCGAGATTGCTACCTGAAG___GTGAGCCAATCCAAGGAGCACCAGCAGTTTATCACCTTCTTACAGAGACTCCTTGGGCCTTTGCTGGAGGCCTACAGCTCTGCTGCCATCTTTGTTCACAACTTCAGTGGTCCTGTTCCAGAACCTGAGTATCTGCAAAAGTTGCACAAATACCTAATAACCAGAACAGAAAGAAATGTTGCAGTATATG___CTGAGAGTGCCACATATTGTCTTGTGAAGAATGCTGTGAAAATGTTTAAGGATATTGGG___GTTTTCAAGGAGACCAAACAAAAGAGAGTGTCTGTTTTAGAACTGAGCAGCACTTTTCTACCTCAATGCAACCGACAAAAACTTCTAGAATATATTCTGAGTTTTGTGGTGCTGTAGGTAACGTGTGGCACTGCTGGCAAATGAAGGTCATGAGATGAGTTCCTTGTAGGTACCAGCTTCTGGCTCAAGAGTTGAAGGTGCCATCGCAGGGTCAGGCCTGCCCTGTCCCGAAGTGATCTCCTGGAAGACAAGTGCCTTCTCCCTCCATGGATCTGTGATCTTCCCAGCTCTGCATCAACACAGCAGCCTGCAGATAACACTTGGGGGGACCTCAGCCTCTATTCGCAACTCATAATCCGTAGACTACAAGATGAAATCTCAATAAATTATTTTTGAGTTTATTAAAGATTGACATTTTAAGTACAACTTTTAAGGACTAATTACTGTGATGGACACAGAAATGTAGCTGTGTTCTGGAACTGAATCTTACATGGTATACTTAGTGCTGCTGGGTAATTTGTTGGTATATTATCTGGTTAGTGGTTAATGCTTCCTTTAAAAATAATTGAGTCATCCATTCACTCTTTTTCAGTTTTATCTGTCAATAGTAGCTACATTTTTAATGGGAGCACCTTTTATCCCAAAGTGCTTTATAAATTGAGTGGACTGATATATATCACACCCAGGTATCACTGTGCTGTCCTTTGCTGTCAGATTTAGAAATGTTTTTAAGAGCTATGTGAAAACAGACAATATTAGTTTAGGTCGGGAACTGAGATATTGTAATCAAATAGTTAACATCAGGAAGTTAATTTGGCTGGCAAAATTCTAGGGAAACTTGGCCAGAAAACTGGTGTTGAAGGCTTTTGCTCATATAAACAAGTGCCATTGAGTTTCAAATGACCAGCAAATATATTTAGAACCCTTCCTGTTTTATGTCTGTACCTCGTCCACCCCTCAGGTAATACCTGCCTCTCACAGGTACAGCTGTTTCTTGGAAATCCTCCAACCAAATAGCAGTTTTCCTAACTTGATTAGCTTGAGCTGACAGACTGTTAGAATACAGTTCTCTGGCCACAGCTGATGAGGGCTTTCTGTACTGCACACAGATTGTGTACTGCACCCCAGTCCAGGTGACTGGTACCCACTCGAGTTGTGCCGTGCACAACCTGTCCAGTATATGCATGTGGTGGCCCTACTGACTGGTAATGGTTAGAGGCATTTATGGATTTTTAGCTTTGAGGAAAAACCATGACTTTTAACAAATTTTTATGGGTTATATGCCTAAACCCTTATGCCACATAGTGGTAAATAATTATGAAAAATGGTCTGTTCATAATTGGTAGGTGCCTTTTGTGAGCAGGGAGCATAATTATTGGTTTATTATGGTAATTATGGTGATTTTTTAAATATCATGTAATGTTAAAACGTTTTCTAACAGTTTACTGTTGCTTATCTCCAAGATATTATGGAATTAAGAATTTTTCCAGATGAGTGTTACATAGATTCTTTGAATTTAGTATAAAAGTACTGAGAATTAAGTTTGTACTTCCATAAGCTTGGATTTTAAACACTGATAGTATCTCATGAGTAATGTGTGTTTTGGGAGAGGGAGGGATGCTGATTGATATTTCACATTGTATGAAATACCATGTTTGAAACTCATAGCAATAATGCTATGCTGTTGTGATCCCTCTCAAGTTCTGCATTTAAAATATATTTTTTCTTTATAGGAATTGATGTATACCATGAAGTCATTGTCAGTTGTAGTAGCTCTGATGTTGAATGAGATATCATGTTTTAGCATTCCATTTTACTGACTAGGGTAGAAGAACACTTTTCTTGGCTACATTTGGAGGATACCCAGGGAGTCTTGGGTGTTCCTTATCTGGGGAAGCAAACATTTCACTAGTCTCTTTTTTTCATCCTTTAAATTGTAAATTAAGGATTACTCAAGCTCACCATTATTCAAGATTGGGACTCGCTTCCCAGTCGACACTCTGCCCTGCCTGTCATTGCTGCAAAGAGCTGCTGCTTTGCCAACCTAAGCAAAGAAAATACGGCTTCTCTTGCATTATTTTCCCTTTTGGTTGGTTTGTTTTCTAGAAGTACGTTCAGATGCTTTGGGGAATGCAATGTATGATTTGCTAGCTCTCTCACCACTTAACTCACTGTGAGGATAAATATGCATGCTTTTTGTAATTAACTGGTGCTTTGAAAATCTTTTTTAAGGGAGAAAAATCTCAACCAAAGTTATGCTCATCCAGACAAGCTGACCTTTGAGTTAATTTCAGCACAACTCATTCTTCAGTGCCTCATGACTGAAAACAAAAAACAAAAAAACGAAAGCATCTTCACAATGAAGCTTCCAGATAGCACCGTTTTGCTAAAAGATACATTCTCATTGTTTTCCAACAGTGATGGCTTCCACATAAGGTTAAACAAACTAGGTGCTTGTAAATAATTTATTACAGTTTACTCTATCGCATTTCTGTAACATGAAATGCATGCCCTTCTTCAGGGGAAGACTGTGGTCAAGTTAAAAAAAAAAAACAATATTAAACAACATGAAACTGCAGTCTGTTTTTGAAAATGAGAATGTCCTAAGTGATTCAGAAGAGAGGAGGGAAGTTGTGCACTCTGAAAATGCATGAAAAACAAAGGCAAAAACTAGTGGGAAATGTGTAGAACTGTTAACTGAGATGGCTTCGAGTCTTCCTTCTGGAATCTGTTAAATTTCACAAAGTCATGAGGGTAAATGGAGAAAATATTTCTGGGATTACAATGAATGTAAGCCCAAATTGTGGAATTGCCAGTAACCTGGATGGGGAAAAGCATTTCCCATAGCACTCCATGTAATATGAGTGCTCTGTGAGATGTTCATCAGTGTTTTATAGAAATGGTGTTGCTGGGAAACCAAGTTTGCACCTGGAAACTTACAATGCACTTTAGCGCAGTAAGGGCTTGGCATCCGGTAGTGAAAAACTGTCTAACCCAGCATTGCCCAAACTATTTTGACACCAGGACCTTTTTCTCCTTTGGGATACTTATGAACCTCTCACTAATGTCCTGTGGAGAACATTTTGGGAAACACTATGTTAGATAGTTCTTTAAGGAGACAAAACGGTAATGAACAGATAGCACTGGGGCAGAATATGCATGCATTTTGTAACGTCCAGTGTGGCGTTGAATAGATGTGTATTTCCTCCCCTGCAGAAAATAAGCACAGAAAATTATAATGTAGGTGATCGGAGCTCTTTCCTTTGATAGAGAGAACAGCCCCAATGATCCTGGCTTTTTCACTGAACGTATCAGAATACATGGATGAATTGGGGTAAATAAGGTTTTAATTCAGATCTAGAAGAAAGTATTGTACGTTTGAATGCAGATTTTTATCCACAGATAGTTGTAGTGTTTAGACATGACAGGACCTATCGTTGAGGTTTCTAAGACTTACTATGGGCTGTAAACCTGTTTTTTAAAACTATTTTAGAAACCTGAGACTTGCCGTCTGGCATTTTAGTTTAATACAAACTAATGATTGCATTTGAAAGAGATTCTTGACCTTATTTCTAAACGTCTAGAGCTCTGAAATGTCTTGATGGAAGGTATTAAACTATTTGCCTGTTGTACAAAGAAATGTTAAGACTCGTGAAAAGAATTACTATAAGGTACTGTGAAATAACTGCGATTTTGTGAGCAAAACATACTTGGAAATGCTGATTGATTTTTATGCTTGTTAGTGTATTGCAAGAAACACAGAAAATGTAGTTTTGTTTTAATAAACCAAAAATTGAACATA)$ . 16CO003 ENSG00000148737.17 ENSG00000234640.1(248628),ENSG00000224190.2(343968) +/+ ./- chr10:112951607 chr10:128568842 CDS/splice-site intergenic inversion 1 1 0 28 5 high out-of-frame . N-terminal_CTNNB1_binding(100%)| . . ENSG00000148737.17 . ENST00000627217.3 . downstream downstream duplicates(3) ^(GTCAATAATCTCCGCTCCCAGACTACTCCGTTCCTCCGGATTTCGATCCCCCTTTTTCTATCTGTCAATCAGCGCCGCCTTTGAACTGAAAAGCTCTCAGTCTAACTTCAACTCACTCAAATCCGAGCGGCACGAGCACCTCCTGTATCTTCGGCTTCCCCCCCCCTTTGCTCTTTATATCTGACTTCTTGTTGTTGTTGGTGTTTTTTTTTTTTTTACCCCCCTTTTTTATTTATTATTTTTTTGCACATTGATCGGATCCTTGGGAACGAGAGAAAAAAGAAACCCAAACTCACGCGTGCAGAAGATCTCCCCCCCCTTCCCCTCCCCTCCTCCCTCTTTTCCCCTCCCCAGGAGAAAAAGACCCCCAAGCAGAAAAAAGTTCACCTTGGACTCGTCTTTTTCTTGCAATATTTTTTGGGGGGGCAAAACTTTTTGGGGGTGATTTTTTTTGGCTTTTCTTCCTCCTTCATTTTTCTTCCAAAATTGCTGCTGGTGGGTGAAAAAAAAATGCCGCAGCTGAACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCCTCGGCAGAGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAG___GCGGAAAGACGGCCTCCGCCTCGCTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAG___CGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCC)CTTCATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACC|GACAATTTGGGAGTTGAAGATGATTGCTGTGACTTGAGACTTCAGGGGTTTGCCGCATTCTCTCTGCCACCTGTAAGAGGTGGTGTCATCTCAGCAGCTTCAGGGGACCGATGCATAATGGGGATCTCTGCAAGTAAGATTTCATTGTTGCGC MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTART|dnlgveddccdlrlqgfaafslppvrggvisaasgdrcimgisaskisll 16CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 10 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(2),mismatches(1) CCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGAC(GACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16CO006 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 11 0 25 19 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),inconsistently_clipped(1) AGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACG(TTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 16CO006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 5 0 169 28 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTA)GGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 16CO006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 17 92 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) CCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAAC(GACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 16CO006 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 4 8 0 21 48 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(1),mismappers(1),mismatches(4) GCGGGCCGGAAGTGTAGCGTTGCCATGGCGAGGGCCGGGTGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCaAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGG(CCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 16CO006 ENSG00000125676.20 ENSG00000225689.2 -/- -/+ chrX:123706858 chrX:128973240 CDS/splice-site intron inversion/5'-5' 3 0 0 44 4 medium out-of-frame . THO_complex_subunit_2_N-terminus(100%)| . . ENSG00000125676.20 ENSG00000225689.2 ENST00000245838.13 . upstream upstream . ^(ATCCGGGCTTCTGCTACTAGTGAGAGGAAGATGGCGGCCGCGGCTGTGGTGGTTCCCGCAGAGTGGATAAAGAACTGGGAGAAATCAGGGAGA)GGCGAATT___TTTGCATTTATGTCGGATCCTCAGTGAAAATAAAAGCCATGATAGTTCAACATACAGAG___ATTTCCAGCAAGCTCTCTATGAGTTGTCATATCATGTAATTAAAGGAAATCTAAAGCATGAACAGGCATCTAATGTTCTTAGTGACATTAGT|GTACCAAGAAAAGGCCATGTGACCATACAGCTAGAAGGCAGCCGTCTGCAAGCCAGGAAGAGTGCCATCACCAG MAAAAVVVPAEWIKNWEKSGRGEFLHLCRILSENKSHDSSTYRDFQQALYELSYHVIKGNLKHEQASNVLSDIS|vprkghvtiqlegsrlqarksait 16CO011 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 9 2 30 48 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(8),mismatches(3) CTTCCCTCCAGGAGTGATGGGAACCACTGGGGGGACTTCGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___...CCTCAAGTGGGTGGACAGCGAAG___...GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATG(GAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16CO011 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 15 0 28 117 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4) GGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTG(GATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 16CO011 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 4 0 177 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(7),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 16CO011 ENSG00000017260.19 ENSG00000198585.12(34451),ENSG00000261167.1(31845) +/+ ./+ chr3:130894337 chr3:131423281 5'UTR/splice-site intergenic deletion 2 1 0 27 2 high . . . . . ENSG00000017260.19 . ENST00000533801.6 . downstream upstream duplicates(1) ^(AGGAGTGCGGGGCGCGACTGGGCGGCCGGCGGCGGGGAGGGGCGGAGCGCAGGAGTCGGAGGCGGGAGCAGACCAGCACGGCCTCGCGGAGCCGGCCCGGCGGACCGTGACGGGTCCCCTCACCTCCTCTTCTCTCCCCTCCCCGCCCGCCCTCTCTCCCTCCCTTCCTCCCTCCCGC)TCGCTTCTTCTCACGCCGGGAGCAGGCTCCCGCCTCGCACCGCTGCCCCGCGAGCAGCTCCTCTTCTCCCGAGGCGCGCGGGGCGCCCCCGCGAGCCCCGCGGCTGAGACCCCGCAGCCTGGAGGAGGGCTGTCCGGGGCTTTGG|CTGTCATGCAAGAAATAGGTCCACTCTGAAGCTGCTATACTGGGGGACCAGAGGCAGAGCCCATGTCGAGAGAGCACAGATGTCTGAGCAGCCCCAGCCGTTCCAGCTC . 16CO012 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 11 17 0 34 37 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(1),mismappers(1),mismatches(1) ACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAAC(AGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 16CO012 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 14 0 32 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(3),mismappers(1),mismatches(2) GCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCC(GCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16CO012 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 3 8 1 27 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismappers(1) CCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACC(TTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 16CO012 ENSG00000243207.6 ENSG00000254166.3 +/+ -/- chr19:10110402 chr8:127208690 CDS/splice-site exon translocation 0 2 0 47 27 medium out-of-frame . Brix_domain(100%)| . . ENSG00000243207.6 ENSG00000254166.3 ENST00000428358.5 ENST00000500112.2 downstream downstream . ^(GTGTCTCCATAGCAACCGCTCCATCTGATTGCCCCTCCCCGCTCCCAGAGGCCACCTAGTGCGCAGGCCCGCCTGATGTCGTCCCACGCCGTGCCGGCTCTCAGGCGCCGGAAGTGAGCTGCGCAGCGCCGGAAGCGGCGGACGCAGGAGGCCTCGTGGAGGACACAGCAGCATGGGACAGTCAGGGAGG___TCCCGGCACCAGAAGCGCGCCCGCGCCCAGGCGCAGCTCCGCAACCTCGAGGCCTATGCCGCGAACCCGCACTCGTTCGTGTTCACGCGAGGCTGCACGGGTCGCAACATCCGGCAGCTCAGCCTGGACGTGCGGCGGGTCATGGAGCCGCTCACTGCCAGCCGTCTGCAG___GTTCGTAAGAAGAACTCGCTGAAGGACTGCGTGGCAGTGGCTGGGCCCCTCGGGGTCACACACTTTCTGATCCTGAGCAAAACAGAGACCAATGTCTACTTT___AAGCTGATGCGCCTCCCAGGAGGCCCCACCTTGACCTTCCAGGTCAAGAAG___TACTCGCTGGTGCGTGATGTGGTCTCCTCACTGCGCCGGCACCGCATGCACGAGCAGCAGTTTGCCCACCCACCCCTCCTGGTACTCAACAGCTTTGGCCCCCATGGTATGCATGTGAAGCTCATGGCCACCATGTTCCAGAACCTGTTCCCCTCCATCAACGTGCACAAG___GTGAACCTGAACACCATCAAGCGCTGCCTCCTCATCGACTACAACCCCGACTCCCAGGAGCTGGACTTCCGCCACTA___TAGCATCAAAGTTGTTCCTGTGGGCGCGAGTCGCGGGATGAAGAAGCTGCTCCAGGAGAAGTTCCCCAACATGAGCCGCCTGCAGGACATCAGCGAGCTGCTGGCCAC___GGGCGCGGGGCTGTCGGAGAGCGAGGCAGAGCCTGACGGCGACCACAACATCACAGAGCTGCCTCAGGCTGTCGCTGGCCGTGGCAACATGCGGGCCCAGCAGA)GTGCAGTGCGGCTCACCGAG___ATCGGCCCGCGGATGACACTGCAGCTCATCAAGGTCCAGGAGGGCGTCGGGGAGGGCAAAGTGATGTTCCACAGTTTTG|TgCCACAGAAGTGCTTTGAGATTTTGGAGTCAGACTGCTTGAACTTGAATCCTGGCCCTCTCATCAGAGACTTGACTTATTTTAGGCAAGTTATATAACCAATTTTACCTCAGTTCCTTACCCATAAAATGGGTCTAATGAGAGTAC(CTACCACACAGAATTTTGATGAAAACTGAATGAGATGAAGGCCTTTAAGGCAGTGGTCCCCAACCCTGGGGACACAGACAGGTACCATTTTGTGGCCTGTTAGGAACTGGGCCACACAGCAGGAGGTGAGCAGTGGGTGAGTGAGATCAGCGTTATTTACAGCTGCTCCCCATTGCTCACCTTACTGCCTGAGCTCCACCTCCTGTCAGATCAGCAGTGGCATTAAATTCTCATAGCAGCACAAACCCTGTCATGAACTGCACATGCGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAATGCCTAATGACCTGTCACCGTCTCCCATCACCCCTAGATGGGAGTGTCTAGTTGCAGGAAACAAGCTCAGGGCTTCCACTGATTCTACATTATGGTGAGTTGTATAATTATTTCATTATATAATACAATGTAATAATAATAGAAACACAGTGCACAACAAATGTAATGTGCTTGAATCATCCCCAAACCATCCCAGTCCACGGTCTTCCACATTTTGTCTTTTCACAAAATTGTCTTCCACAAAACTGGTCCCTGGTGCCAAAAAGGCTTGGGACCACTGCTTTAAAGCCTTTGCATAGTGCTTAGAATTGAGGGGGAAAAAAAAAACAAAAACAATGTAGCTAGTTGCTACAATCACTATATTGGTGAGTTTCAAAAGGAAAAGAATTCTGTCCCATTTATGCTTGAGCCTTGAGTTGCTAACCAAGCCTGACACAAAATTACTGTTGAAGGGATGTGTGAGTCCTAATTGAAATGAGGCCTCTTAAGGGAATTGTGGACCAAACCCCAAGCAGGCAGAAAGCCGTATCTTAATTATTGCAAGTATTTCAGGCAAGGTGTGGATGGCCATTTGAATTCAAGCAGACTAGGACCTGGGATGAGAAAGAAGGTGTGTACGTGACTTGATCTTTGAACTTTAGCTCACCATCTGGAAGAAGGCTGAGTATTCTCTGCACTCACATAGTAGCTAATGCCTACTCCCCAGCCACCCACAATTCTTTCTGTAGGAAGGCTCGCTAGAATACTTTGTGATATTGGATATTAGTTCCATATTCTACTGTGTATCTTAGTTCAACCAAATTGTAATCATCTGATATTTATTTCTTTTAATATAAATATAAGTATATTAAGTCTTGGCATGCTTGCTCAGTCTCTCTCTCTCTCCCATTCCTCCCCGCTCCCCTCTCTCTTTCCCAACAGGCTTGGAAAGCAGGCATCACCATGCCTATTTAACAGTTGGGGTCCCTTGGCCACCAGGTGCTGGAGTAGGAATCTGAGCCCGGACATGCCTGATCTGTAAATTTTGTGTTTTCCCCACTGTGCTGGGCAGATCACAGCTATCAGCGCCAAATTCATAGAAGGGGCGCCCCCTGTGGTCAATTGAGGGATTTGTGTTTGAGGTAGATCTCAAGAAGGAATGGGTGGGGAACTTAGCCTAGGACAGAGCAGAAAGGAGCCCTCACTCCCCAAGCACCAACGGCCTCAGTCCTTCCTGCTGACTCCAGCCTCTAGCTCTCACCCAGACTATCTGCATCCTTCTCTCCACCACGCTCCTTTGGAACCTGCGTAAAACACAGATTAAAGGAATTCCGCCTTACTTCCCTTTCCGCATTATGACCAAATGGTTTTACACTATCATTGAACAGTTTAGTACAAAACATGCCACCTTTTAATCTATTCATTCATTTAACAAATACTTTGGAGTGTTTACCATGTGCCAAGTGCTGTTCTAATAGACATAAGCTGTGAGGTTATGCTTATCTGATTCTCACAGCAACAGCTTTCGAGATATGAATTGGTATACTCATTTGACAGATGAGGAAATTGAATTCATGTAGTGAGAAAGGAAGAGCTGCAATTCAGGGTTACTGGTTTCTCCTGCACTAAGCACTGAGCCACACTAGAAGAGAAGGCATGAGGAAGACAAAAGTGAGAAGGTACGAGAGAAGATATTAAGTAGAGGTCTATTAGTTCCTCTTAAAACTATTTATGAAAGAGGCGGATGGGGTAGTGGATGGGAAAGACAGATGGATTCATGTTCTTCACTCCAGGTTTCCCCCCATTCCCTTCCCTTTTAAATGCCTGCTCATTTTTTGGCTACCTTTCAAGCTCTAGGAAATACTCTGGAATTCCAGGCTGGGAGGGGTTTCCTTTGCAGATCTGGCTATTGTAACTTTACAAGAAATTGCTCAATACTTCCTCTCACCAGTTACAAACCACGGTTTTCTGAATGAACTTTATGTTCATTAAACAGTTAACCCTTCAGCTTTCTGACTCACATTTTTCATGTTATTAATCAGCTCTTAGAGTAAGGTAAAATCTAGAACAGACTTTATATACACCCTCCCTCCCACACACATATACATACATAATACAAACACAGACCACACATGTCCACATCCTTATGCGCAAACACTAAGAAACACACGCATACACAAACATACATGTACACAAAATTAAATACATAGCTATGGCACTTTCACTATACATGTAAACACCCTTACACACATACAAATGTACATGCGCGTGTGCGCACACACATATGGAATTAGCTTTTTCTCTTTGTGGGAGGAGGGAAATGAAAAGACCCAAAACATTCAGATTCCCAAATGGACACGTAAGAACCCCGTCATGGAAATAGGTCTGGGTTTTTTTCTCTTTTGAGGGAAGCAGGGCGTTTCTGGTTACTGTCGCCATTGCCATTGTGCCCCTGCTTACCATCCCCCTGCACCGCCCCCCCGGCCCCCGCCCGCCACTGCTAGGGTTTACAGGTCATCCCTGGATTAAATAAGTGATATTGTGTTTTTTTTTCTTTGACACAAAGTAAAATTATAATTAATATTGAATAAAGTAAAAATGAACTCCTGAGTTCCAGTCCCTTATGTAACACACCTGGTTTGTGGCAGGCACTCAGGAAATATTAGTTGCATGAACGAAGGCTGCATTTTCATTAGAACAACATGCAGTTCAACCCCTTCATGTTTCAATGAGGGTTCAGATACCCAGAGGGCTATGCTATCATCCTGGAGCCCACTCTGCTAACAATTAGCAGAACGGAAGCCTTAATTTCCAGATTCTAGTGAACTTGATGAGTCAAGACTATTGCAATTGGAAATCTGTTCTCCTCTGCTGCTGCATTCCCTGCTTAATACTCAAGCCAGAAACCAGGAAGGTATGTGCCACAAAGTAAAGTGGGATTCAGGACAATTATCCATCAAGACTTTGTTACAGATATCCAAAGCAGGCAATTCAAGACCCAGCTTGACTTTACTGTCTCCATTGTGGTGGTTAATGGAGACAAATTCAATTCAAATATGTGCACGTGGATTTCTTTGTTTCTCTGAGGTTTGACTTATCTGCCAAAAGAGAGAAACACAGAAAGAGGGGAGAAACAGGAGAGGGGAAAGAGAGAGGAGAGAGAAACCAAGGAAATGTGACATATAATAATTTTTTAAAGAATATTTTTTCATTTTTTTATTGAGGTATAAAATACATGTAGTAAGGTATGTCAATAACTCAAATCTTATGTGATTTTTTTATGTACATGTATACCTGTGTACACCTGTGTAACCACTACCTAAGTCAAGATAGAGAACATTTTAATCATCTTAAAAGATTTCCTGTGTCTCTTCCCACCAATACCTGCTGATGAGCCCACTCTCCTTACAGCTATCAGCAGAGTTGTTTTACCTGTCCTTGAACTTAATATAAATGTAATTATACTGTATATGCTCTTTTGTGTCTGATTTCTTTCACCCAACGTACTTGTTGGTTTAGTCCATGTTGTGTATATCAGCAGTTTGTTTTTGTTAAGTAGCAGTGTTCCATTGTATAAATGGACCATATTTTATCCTTCATGTTAATGAACATTTGAATTGTTTTCATGTTCTTGTTATGAATCAACATGGTTATGAATAGTTTGGTTATGAAGAGTTTTACACATGTTTTTAGTCTATTTTGTTTCTCTTAAATATATACTTAGTCACGGGATTACTGGTCATATAGTATAGGCAGGCAGATGTTCAGCTTTAATTGACACAACCAACTGTTTTTGAAAGGGGTTGAGGCAATTCACACACAATAAATAACAATATATAAAAGTTCCAA)$ MGQSGRSRHQKRARAQAQLRNLEAYAANPHSFVFTRGCTGRNIRQLSLDVRRVMEPLTASRLQVRKKNSLKDCVAVAGPLGVTHFLILSKTETNVYFKLMRLPGGPTLTFQVKKYSLVRDVVSSLRRHRMHEQQFAHPPLLVLNSFGPHGMHVKLMATMFQNLFPSINVHKVNLNTIKRCLLIDYNPDSQELDFRHYSIKVVPVGASRGMKKLLQEKFPNMSRLQDISELLATGAGLSESEAEPDGDHNITELPQAVAGRGNMRAQQSAVRLTEIGPRMTLQLIKVQEGVGEGKVMFHSF|vpqkcfeilesdclnlnpgplirdltyfrqvi* 16CO012 ENSG00000130810.20 ENSG00000254166.3 +/+ -/- chr19:10110402 chr8:127208690 CDS/splice-site exon translocation 0 2 0 47 27 medium out-of-frame . Brix_domain(100%)| . . ENSG00000130810.20 ENSG00000254166.3 ENST00000253107.12 ENST00000500112.2 downstream downstream . ^(GGACGCAGGAGGCCTCGTGGAGGACACAGCAGCATGGGACAGTCAGGGAGG___TCCCGGCACCAGAAGCGCGCCCGCGCCCAGGCGCAGCTCCGCAACCTCGAGGCCTATGCCGCGAACCCGCACTCGTTCGTGTTCACGCGAGGCTGCACGGGTCGCAACATCCGGCAGCTCAGCCTGGACGTGCGGCGGGTCATGGAGCCGCTCACTGCCAGCCGTCTGCAG___GTTCGTAAGAAGAACTCGCTGAAGGACTGCGTGGCAGTGGCTGGGCCCCTCGGGGTCACACACTTTCTGATCCTGAGCAAAACAGAGACCAATGTCTACTTT___AAGCTGATGCGCCTCCCAGGAGGCCCCACCTTGACCTTCCAGGTCAAGAAG___TACTCGCTGGTGCGTGATGTGGTCTCCTCACTGCGCCGGCACCGCATGCACGAGCAGCAGTTTGCCCACCCACCCCTCCTGGTACTCAACAGCTTTGGCCCCCATGGTATGCATGTGAAGCTCATGGCCACCATGTTCCAGAACCTGTTCCCCTCCATCAACGTGCACAAG___GTGAACCTGAACACCATCAAGCGCTGCCTCCTCATCGACTACAACCCCGACTCCCAGGAGCTGGACTTCCGCCACTA___TAGCATCAAAGTTGTTCCTGTGGGCGCGAGTCGCGGGATGAAGAAGCTGCTCCAGGAGAAGTTCCCCAACATGAGCCGCCTGCAGGACATCAGCGAGCTGCTGGCCAC___GGGCGCGGGGCTGTCGGAGAGCGAGGCAGAGCCTGACGGCGACCACAACATCACAGAGCTGCCTCAGGCTGTCGCTGGCCGTGGCAACATGCGGGCCCAGCAGA)GTGCAGTGCGGCTCACCGAG___ATCGGCCCGCGGATGACACTGCAGCTCATCAAGGTCCAGGAGGGCGTCGGGGAGGGCAAAGTGATGTTCCACAGTTTTG|TgCCACAGAAGTGCTTTGAGATTTTGGAGTCAGACTGCTTGAACTTGAATCCTGGCCCTCTCATCAGAGACTTGACTTATTTTAGGCAAGTTATATAACCAATTTTACCTCAGTTCCTTACCCATAAAATGGGTCTAATGAGAGTAC(CTACCACACAGAATTTTGATGAAAACTGAATGAGATGAAGGCCTTTAAGGCAGTGGTCCCCAACCCTGGGGACACAGACAGGTACCATTTTGTGGCCTGTTAGGAACTGGGCCACACAGCAGGAGGTGAGCAGTGGGTGAGTGAGATCAGCGTTATTTACAGCTGCTCCCCATTGCTCACCTTACTGCCTGAGCTCCACCTCCTGTCAGATCAGCAGTGGCATTAAATTCTCATAGCAGCACAAACCCTGTCATGAACTGCACATGCGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAATGCCTAATGACCTGTCACCGTCTCCCATCACCCCTAGATGGGAGTGTCTAGTTGCAGGAAACAAGCTCAGGGCTTCCACTGATTCTACATTATGGTGAGTTGTATAATTATTTCATTATATAATACAATGTAATAATAATAGAAACACAGTGCACAACAAATGTAATGTGCTTGAATCATCCCCAAACCATCCCAGTCCACGGTCTTCCACATTTTGTCTTTTCACAAAATTGTCTTCCACAAAACTGGTCCCTGGTGCCAAAAAGGCTTGGGACCACTGCTTTAAAGCCTTTGCATAGTGCTTAGAATTGAGGGGGAAAAAAAAAACAAAAACAATGTAGCTAGTTGCTACAATCACTATATTGGTGAGTTTCAAAAGGAAAAGAATTCTGTCCCATTTATGCTTGAGCCTTGAGTTGCTAACCAAGCCTGACACAAAATTACTGTTGAAGGGATGTGTGAGTCCTAATTGAAATGAGGCCTCTTAAGGGAATTGTGGACCAAACCCCAAGCAGGCAGAAAGCCGTATCTTAATTATTGCAAGTATTTCAGGCAAGGTGTGGATGGCCATTTGAATTCAAGCAGACTAGGACCTGGGATGAGAAAGAAGGTGTGTACGTGACTTGATCTTTGAACTTTAGCTCACCATCTGGAAGAAGGCTGAGTATTCTCTGCACTCACATAGTAGCTAATGCCTACTCCCCAGCCACCCACAATTCTTTCTGTAGGAAGGCTCGCTAGAATACTTTGTGATATTGGATATTAGTTCCATATTCTACTGTGTATCTTAGTTCAACCAAATTGTAATCATCTGATATTTATTTCTTTTAATATAAATATAAGTATATTAAGTCTTGGCATGCTTGCTCAGTCTCTCTCTCTCTCCCATTCCTCCCCGCTCCCCTCTCTCTTTCCCAACAGGCTTGGAAAGCAGGCATCACCATGCCTATTTAACAGTTGGGGTCCCTTGGCCACCAGGTGCTGGAGTAGGAATCTGAGCCCGGACATGCCTGATCTGTAAATTTTGTGTTTTCCCCACTGTGCTGGGCAGATCACAGCTATCAGCGCCAAATTCATAGAAGGGGCGCCCCCTGTGGTCAATTGAGGGATTTGTGTTTGAGGTAGATCTCAAGAAGGAATGGGTGGGGAACTTAGCCTAGGACAGAGCAGAAAGGAGCCCTCACTCCCCAAGCACCAACGGCCTCAGTCCTTCCTGCTGACTCCAGCCTCTAGCTCTCACCCAGACTATCTGCATCCTTCTCTCCACCACGCTCCTTTGGAACCTGCGTAAAACACAGATTAAAGGAATTCCGCCTTACTTCCCTTTCCGCATTATGACCAAATGGTTTTACACTATCATTGAACAGTTTAGTACAAAACATGCCACCTTTTAATCTATTCATTCATTTAACAAATACTTTGGAGTGTTTACCATGTGCCAAGTGCTGTTCTAATAGACATAAGCTGTGAGGTTATGCTTATCTGATTCTCACAGCAACAGCTTTCGAGATATGAATTGGTATACTCATTTGACAGATGAGGAAATTGAATTCATGTAGTGAGAAAGGAAGAGCTGCAATTCAGGGTTACTGGTTTCTCCTGCACTAAGCACTGAGCCACACTAGAAGAGAAGGCATGAGGAAGACAAAAGTGAGAAGGTACGAGAGAAGATATTAAGTAGAGGTCTATTAGTTCCTCTTAAAACTATTTATGAAAGAGGCGGATGGGGTAGTGGATGGGAAAGACAGATGGATTCATGTTCTTCACTCCAGGTTTCCCCCCATTCCCTTCCCTTTTAAATGCCTGCTCATTTTTTGGCTACCTTTCAAGCTCTAGGAAATACTCTGGAATTCCAGGCTGGGAGGGGTTTCCTTTGCAGATCTGGCTATTGTAACTTTACAAGAAATTGCTCAATACTTCCTCTCACCAGTTACAAACCACGGTTTTCTGAATGAACTTTATGTTCATTAAACAGTTAACCCTTCAGCTTTCTGACTCACATTTTTCATGTTATTAATCAGCTCTTAGAGTAAGGTAAAATCTAGAACAGACTTTATATACACCCTCCCTCCCACACACATATACATACATAATACAAACACAGACCACACATGTCCACATCCTTATGCGCAAACACTAAGAAACACACGCATACACAAACATACATGTACACAAAATTAAATACATAGCTATGGCACTTTCACTATACATGTAAACACCCTTACACACATACAAATGTACATGCGCGTGTGCGCACACACATATGGAATTAGCTTTTTCTCTTTGTGGGAGGAGGGAAATGAAAAGACCCAAAACATTCAGATTCCCAAATGGACACGTAAGAACCCCGTCATGGAAATAGGTCTGGGTTTTTTTCTCTTTTGAGGGAAGCAGGGCGTTTCTGGTTACTGTCGCCATTGCCATTGTGCCCCTGCTTACCATCCCCCTGCACCGCCCCCCCGGCCCCCGCCCGCCACTGCTAGGGTTTACAGGTCATCCCTGGATTAAATAAGTGATATTGTGTTTTTTTTTCTTTGACACAAAGTAAAATTATAATTAATATTGAATAAAGTAAAAATGAACTCCTGAGTTCCAGTCCCTTATGTAACACACCTGGTTTGTGGCAGGCACTCAGGAAATATTAGTTGCATGAACGAAGGCTGCATTTTCATTAGAACAACATGCAGTTCAACCCCTTCATGTTTCAATGAGGGTTCAGATACCCAGAGGGCTATGCTATCATCCTGGAGCCCACTCTGCTAACAATTAGCAGAACGGAAGCCTTAATTTCCAGATTCTAGTGAACTTGATGAGTCAAGACTATTGCAATTGGAAATCTGTTCTCCTCTGCTGCTGCATTCCCTGCTTAATACTCAAGCCAGAAACCAGGAAGGTATGTGCCACAAAGTAAAGTGGGATTCAGGACAATTATCCATCAAGACTTTGTTACAGATATCCAAAGCAGGCAATTCAAGACCCAGCTTGACTTTACTGTCTCCATTGTGGTGGTTAATGGAGACAAATTCAATTCAAATATGTGCACGTGGATTTCTTTGTTTCTCTGAGGTTTGACTTATCTGCCAAAAGAGAGAAACACAGAAAGAGGGGAGAAACAGGAGAGGGGAAAGAGAGAGGAGAGAGAAACCAAGGAAATGTGACATATAATAATTTTTTAAAGAATATTTTTTCATTTTTTTATTGAGGTATAAAATACATGTAGTAAGGTATGTCAATAACTCAAATCTTATGTGATTTTTTTATGTACATGTATACCTGTGTACACCTGTGTAACCACTACCTAAGTCAAGATAGAGAACATTTTAATCATCTTAAAAGATTTCCTGTGTCTCTTCCCACCAATACCTGCTGATGAGCCCACTCTCCTTACAGCTATCAGCAGAGTTGTTTTACCTGTCCTTGAACTTAATATAAATGTAATTATACTGTATATGCTCTTTTGTGTCTGATTTCTTTCACCCAACGTACTTGTTGGTTTAGTCCATGTTGTGTATATCAGCAGTTTGTTTTTGTTAAGTAGCAGTGTTCCATTGTATAAATGGACCATATTTTATCCTTCATGTTAATGAACATTTGAATTGTTTTCATGTTCTTGTTATGAATCAACATGGTTATGAATAGTTTGGTTATGAAGAGTTTTACACATGTTTTTAGTCTATTTTGTTTCTCTTAAATATATACTTAGTCACGGGATTACTGGTCATATAGTATAGGCAGGCAGATGTTCAGCTTTAATTGACACAACCAACTGTTTTTGAAAGGGGTTGAGGCAATTCACACACAATAAATAACAATATATAAAAGTTCCAA)$ MGQSGRSRHQKRARAQAQLRNLEAYAANPHSFVFTRGCTGRNIRQLSLDVRRVMEPLTASRLQVRKKNSLKDCVAVAGPLGVTHFLILSKTETNVYFKLMRLPGGPTLTFQVKKYSLVRDVVSSLRRHRMHEQQFAHPPLLVLNSFGPHGMHVKLMATMFQNLFPSINVHKVNLNTIKRCLLIDYNPDSQELDFRHYSIKVVPVGASRGMKKLLQEKFPNMSRLQDISELLATGAGLSESEAEPDGDHNITELPQAVAGRGNMRAQQSAVRLTEIGPRMTLQLIKVQEGVGEGKVMFHSF|vpqkcfeilesdclnlnpgplirdltyfrqvi* 20CO001 ENSG00000150768.16 ENSG00000204370.12 +/+ +/+ chr11:112033530 chr11:112107545 CDS/splice-site intron deletion/read-through 15 16 0 63 45 high out-of-frame . Biotin-requiring_enzyme(100%)| . . ENSG00000150768.16 ENSG00000204370.12 ENST00000280346.11 . downstream upstream mismappers(3),mismatches(1) ^(GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAG___GTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAG___GTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAA___GCCTGAGGATATTGAGGCCTTTAAAAATTATACACTG)GATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAG___GTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAG|GAAGATCAAAAATAATGAGTAATGTGTCATCTAAGAGAGAACACTGGAATCCAACAGAGAACTTACAGAAAACACCAGTAGCAAGGAAGGAGAAGGAAGCGAGGAAGTCTGCTCAGCTGGGGTCATCTGGGAACCTATAGAGGCTCCCTTAATGCGGAGAAAGGGTAA...AGCTATAGGAGAGTCCCTTGACCTTTGTGGcCCCTGAGACTAATATAGGGAGCTGCCCGGAGACCACATAACAGCATTGCTCCACAGAGGGAGCTCATGCTGAGTCCTACAAACTCCAAAGTCCTTAAGCAGTGGCAGTTGCCAACCCC MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATI|grskimsnvsskrehwnptenlqktpvarkekearksaqlgssgnl* 20CO001 ENSG00000150768.16 ENSG00000255292.8 +/+ +/+ chr11:112033530 chr11:112107545 CDS/splice-site intron deletion/read-through 15 16 0 63 45 high out-of-frame . Biotin-requiring_enzyme(100%)| . . ENSG00000150768.16 ENSG00000255292.8 ENST00000280346.11 . downstream upstream mismappers(3),mismatches(1) ^(GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAG___GTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAG___GTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAA___GCCTGAGGATATTGAGGCCTTTAAAAATTATACACTG)GATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAG___GTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAG|GAAGATCAAAAATAATGAGTAATGTGTCATCTAAGAGAGAACACTGGAATCCAACAGAGAACTTACAGAAAACACCAGTAGCAAGGAAGGAGAAGGAAGCGAGGAAGTCTGCTCAGCTGGGGTCATCTGGGAACCTATAGAGGCTCCCTTAATGCGGAGAAAGGGTAA...AGCTATAGGAGAGTCCCTTGACCTTTGTGGcCCCTGAGACTAATATAGGGAGCTGCCCGGAGACCACATAACAGCATTGCTCCACAGAGGGAGCTCATGCTGAGTCCTACAAACTCCAAAGTCCTTAAGCAGTGGCAGTTGCCAACCCC MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATI|grskimsnvsskrehwnptenlqktpvarkekearksaqlgssgnl* 20CO001 ENSG00000134198.10 ENSG00000270780.1(24540),ENSG00000282048.1(5618) -/- ./- chr1:115057537 chr1:114026775 CDS/splice-site intergenic deletion 15 4 0 187 13 high out-of-frame . Tetraspanin_family(100%)| . . ENSG00000134198.10 . ENST00000369516.7 . upstream downstream . ^(GCCGGAGCCTGCCGCTCCCCGCGCTCGTAGCGCGGGCCTGGGGACTGGGGATCCCGCCGCCGGGCCGCAGCATGGGGCGCTTCCGCGGGGGCCTGCGGTGCATCAAGTACCTGCTGCTTGGCTTCAACCTGCTCTTCTGG___CTGGCTGGATCGGCCGTCATTGCTTTTGGACTATGGTTTCGGTTCGGAGGTGCCATAAAGGAGTTATCATCAGAGGACAAGTCCCCAGAGTATTTCTATGTGG___GGCTGTATGTTCTGGTTGGAGCCGGGGCCCTGATGATGGCCGTGGGGTTCTTCGGGTGCTGCGGAGCCATGCGGGAGTCGCAATGTGTGCTTGGATCA___TTTTTTACCTGCCTCCTGGTGATATTTGCTGCTGAAGTAACCACTGGAGTATTTGCTTTTATAGGCAAGGGGGTA___GCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACA___)TTTCAGTGCTGTGGAAAAGAAAGCTCCGAACAGGTCCAACCTACATGCCCAAAGGAGCTTCTAGGACACAAG|GTGAGGAATGTAAGATCTGGGGAGTTAAGATCATGCCCACAGTCATCTAG___AGGGTATCTCTGTGAAGCAAGACAAGGTCATCCTCCACATCCTCCGCATGAATTGACCTCCCCCAAACTTGGGGCCTAACTGTCCAGCTGAGCTCATATAT___CTTGGTCTGGAGAGCTGCCTCAGACTCTC MGRFRGGLRCIKYLLLGFNLLFWLAGSAVIAFGLWFRFGGAIKELSSEDKSPEYFYVGLYVLVGAGALMMAVGFFGCCGAMRESQCVLGSFFTCLLVIFAAEVTTGVFAFIGKGVAIRHVQTMYEEAYNDYLKDRGKGNGTLITFHSTFQCCGKESSEQVQPTCPKELLGHK|vrnvrsgelrscpqssrgylcearqghpphppheltspklga* 20CO001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 6 0 109 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20CO001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 3 1 16 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 mismatches(1) GTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG(___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20CO001 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 12 0 26 26 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream inconsistently_clipped(1),mismatches(1) AAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAAC(TCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 20CO001 ENSG00000133703.13 ENSG00000118307.19 -/- -/- chr12:25245274 chr12:25155412 CDS/splice-site CDS/splice-site deletion/read-through 9 5 0 100 16 high in-frame . Ras_family(100%)|Cancer_susceptibility_candidate_1_N-terminus(100%) . . ENSG00000133703.13 ENSG00000118307.19 ENST00000311936.8 ENST00000395987.8 upstream downstream . ^(CTAGGCGGCGGCCGCGGCGGCGGAGGCAGCAGCGGCGGCGGCAGTGGCGGCGGCGAAGGTGGCGGCGGCTCGGCCAGTACTCCCGGCCCCCGCCATTTCGGACTGGGAGCGAGCGCGGCGCAGGCACTGAAGGCGGCGGCGGGGCCAG)AGGCTCAGCGGCTCCCAGGTGCGGGAGAGAG___GCCTGCTGAAAATGACTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATACAGCTAATTCAGAATCATTTTGTGGACGAATATGATCCAACAATAGAG|GATCTAGAAAGGAGAAATGAAGAACTTGAAGAACTTTATTTATTAGAGAGGTGTTTTCCTGAAGCAGAGAAATTGAAACAGGAAACTAAATTGCTTTCTCAG___TGGAAGCACTACATTCAATGTGATGGtAGTCCTGATCCTTC(AGTAGCCCAAGAAATGAACACGTTTATTAGTTTGTGGAAAGAGAAAACAAATGAGACTTTTGAGGAAGTGATTGAGAAGAGTAAAGTAGTGCTAAAT___TTAATTGAGAAATTGAAATTTATTTTACTGGAAACTCCACCATGTGATTTGCAAGATAAAAATATAATACAGTACCAAGAATCAATACTACAACTGCAGGAGCTCCTTCATCTTAAATTCGGTGTAGCCACAGAAATACTTCTCAAA___CAAGCTAGTACTTTGGCAGATCTGGACAGTGGAAATATGGAAAAAGTCATTAAAGATGAAAATGTTACTCTGTATGTGTGGGCAAACCTCAAGAAGAATCCAAG___GCACAGAAGTGTTAGATTCTCTGAAACACAAATTGGATTTGAGATTCCAAGGATATTAGCAACAAGTGACATTGCTGTACGACTCCTGCATACCCACTATGATCATGTTTCTGCACTGCACCCTGTTTCAACACCATCAAAAGAATACACTTCTGCAGTAACTGAGCTTGTCAAAGATGATGTTAAGAATGTAGAAAAAGCAATCAGCAAGGAGGTCGAAGAAGAGTCCAAACAACAAGAAAGAGGGTCTCACTTAATTCAGGAGGAAGAAATAAAAGTTGAGGAGGAACAAGGTGATATTGAAGTGAAAATG___AGTTCTGCTGAGGAAGAATCTGAAGCCATAAAATGTGAACGAGAGATGAAAGTATTAAGTGAAACTGTTTCAGCAG___CACAGTTGTTGCTGGTAGAGAATTCTTCTGAAAAGCCAGATTTCTTTGAAGACAATGTGGTGGATTTATGCCAGTTCACAACTCTGGGTGGAGTATACCACTTGGATATTTTGGAGCTTCCTCCACAGTGTAAACCAGTGAAGGGATGGATGATTGTGGAA___ATACTCAAAGAAGGATTACAGAAATACACATATCCTCCGGAAACTACAGAAGAGTTTGAGACAGAAAATGCTTTCCCACCTATAGAGGTCACACTTGAGGTTCATGAGAATGTAATCTTTTTTGAGGATCCTGTGGTTGTAAGGTGGGATGCTGAAG___GTAAACATTGGAGAACTGATGGCATCAGCAATGTATCCTACAAACCAAAAGAAAGACTTGTAACATTCAGCCTGGACACCTTTGGCCCTGTTACCTTGATTCAAGATGCTCATATTAACATGCCGTACCAGTCATGGGAACTAAGACCACTTGATGTAAATAAAGTACTTTTAACTGTGACTACAGTATTTACTGAGATTCAAATACAAATTAAG___GAAAACCTCTGCATGTTATCTTCAATCAAACTAAAAGACAAGAAACACATCTCTATTTTGGAAGGAACCTGGATGACTCCTATTCCTTTCATTATTGCTTTGAAAGAAGCTGGACTGAATATCTTTCCTACTAGACACTCTCATTTTTATGTTATTATAAACAATAAG___GTTCCTTTGGTAGAAGTGAAAGCTTATCGACAGATGGCCCTACTAAGTTCTGCTTTTGCATTTGGTTGGAGCAAGTGGAACCTACTATGTAATTCTACAAAAGTCGTATTTAAG___GTGAGGGAACACCTTACTGAAGCATGTACTGAGAATCCTAATTGGGCCCTTTTAATGTTTAGTGGTGACAGAGCACAAAGACTGAAGATCAAGGAAGAGAGTGAGGCATTTTCTGAAGCACTTAAAGAAGAAACTGAGTTTCATTCTACTTTATATCACATGGTGAAGGATTTTGCTTCTGAGGAAGCAATGGAGAAAGTCAGGAGTTCCAACTGTCAGTTTGTCAACTCTGTGTGCCACATGCTGCTCTCTACCAGATTGCTCAGCTACTCCTAACCTCCACTTACAAACTGTATTGTAAGTATGAAGAACCAAGCATGGTGAAAGACAGGTATTTCTGCAACACAATGTAATGAGTGAATGAATACATTTCAAATCAACTATTAAAAATTTTCTAATCTGCATTTTCTACTCAAGTTTTATTTTAAAAACAGTATTTTTTTTTCCTTTGAATACTTGGCCTGTTAAGAATTTCAGCTTTCACTCTATGAAGATTTAAATGATTCTTTATTTCAATAAACTTTAACAAACAATA)$ MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIE|DLERRNEELEELYLLERCFPEAEKLKQETKLLSQWKHYIQCDGSPDPSVAQEMNTFISLWKEKTNETFEEVIEKSKVVLNLIEKLKFILLETPPCDLQDKNIIQYQESILQLQELLHLKFGVATEILLKQASTLADLDSGNMEKVIKDENVTLYVWANLKKNPRHRSVRFSETQIGFEIPRILATSDIAVRLLHTHYDHVSALHPVSTPSKEYTSAVTELVKDDVKNVEKAISKEVEEESKQQERGSHLIQEEEIKVEEEQGDIEVKMSSAEEESEAIKCEREMKVLSETVSAAQLLLVENSSEKPDFFEDNVVDLCQFTTLGGVYHLDILELPPQCKPVKGWMIVEILKEGLQKYTYPPETTEEFETENAFPPIEVTLEVHENVIFFEDPVVVRWDAEGKHWRTDGISNVSYKPKERLVTFSLDTFGPVTLIQDAHINMPYQSWELRPLDVNKVLLTVTTVFTEIQIQIKENLCMLSSIKLKDKKHISILEGTWMTPIPFIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMALLSSAFAFGWSKWNLLCNSTKVVFKVREHLTEACTENPNWALLMFSGDRAQRLKIKEESEAFSEALKEETEFHSTLYHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS* 20CO001 ENSG00000250358.6(65443),ENSG00000134982.17(30003) ENSG00000134982.17 ./+ +/+ chr5:112707882 chr5:112754873 intergenic 5'UTR/splice-site deletion/read-through 4 7 1 15 28 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 . GGAAGGTGAAGCACTCAGTTGCCTTCTCGGGCCTCGGCGCCCCCTATGTACGCCTCCCTGGGCTCGGGTCCGGTCGCCCCTTTGCCCGCTTCTGTACCACCCTCAGTTCTCGGGTCCTGGAGCACCGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGGGCGGCGCTCGTACTTCTGGCCACTGGGCGAGCGTCTGGCAG|GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG(___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG___GGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAG___GTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGGCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA___TGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAG___GGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG___GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAG___GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAG___GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG___GCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAGGAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAATGAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTGAAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGATTGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCTGCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCAGGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAGATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACTGGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAACATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGCCCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCAGAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCTAGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGTTCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAACAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGACTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCTTCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAGTCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCTTCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAAACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGAAGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCAATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGAGTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCCAGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAAAGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTTTCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCAAAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGAATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCCCCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAATCAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAATCGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACCCCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGAGTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCTCGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACTGACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTGACATCTGTTTAAAAGAGAGGAAGAATGAAACTAAGAAAATTCTATGTTAATTACAACTGCTATATAGACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATTTTGTAAATAGGTTTGATTCTTGTTAGAGGGTTTTTGTTCTGGAAGCCATATTTGATAGTATACTTTGTCTTCACTGGTCTTATTTTGGGAGGCACTCTTGATGGTTAGGAAAAAAATAGTAAAGCCAAGTATGTTTGTACAGTATGTTTTACATGTATTTAAAGTAGCATCCCATCCCAACTTCCTTTAATTATTGCTTGTCTTAAAATAATGAACACTACAGATAGAAAATATGATATATTGCTGTTATCAATCATTTCTAGATTATAAACTGACTAAACTTACATCAGGGAAAAATTGGTATTTATGCAAAAAAAAATGTTTTTGTCCTTGTGAGTCCATCTAACATCATAATTAATCATGTGGCTGTGAAATTCACAGTAATATGGTTCCCGATGAACAAGTTTACCCAGCCTGCTTTGCTTTACTGCATGAATGAAACTGATGGTTCAATTTCAGAAGTAATGATTAACAGTTATGTGGTCACATGATGTGCATAGAGATAGCTACAGTGTAATAATTTACACTATTTTGTGCTCCAAACAAAACAAAAATCTGTGTAACTGTAAAACATTGAATGAAACTATTTTACCTGAACTAGATTTTATCTGAAAGTAGGTAGAATTTTTGCTATGCTGTAATTTGTTGTATATTCTGGTATTTGAGGTGAGATGGCTGCTCTTTTATTAATGAGACATGAATTGTGTCTCAACAGAAACTAAATGAACATTTCAGAATAAATTATTGCTGTATGTAAACTGTTACTGAAATTGGTATTTGTTTGAAGGGTCTTGTTTCACATTTGTATTAATAATTGTTTAAAATGCCTCTTTTAAAAGCTTATATAAATTTTTTTCTTCAGCTTCTATGCATTAAGAGTAAAATTCCTCTTACTGTAATAAAAACAATTGAAGAAGACTGTTGCCACTTAACCATTCCATGCGTTGGCACTTATCTATTCCTGAAATTTCTTTTATGTGATTAGCTCATCTTGATTTTTAATATTTTTCCACTTAAACTTTTTTTTCTTACTCCACTGGAGCTCAGTAAAAGTAAATTCATGTAATAGCAATGCAAGCAGCCTAGCACAGACTAAGCATTGAGCATAATAGGCCCACATAATTTCCTCTTTCTTAATATTATAGAATTCTGTACTTGAAATTGATTCTTAGACATTGCAGTCTCTTCGAGGCTTTACAGTGTAAACTGTCTTGCCCCTTCATCTTCTTGTTGCAACTGGGTCTGACATGAACACTTTTTATCACCCTGTATGTTAGGGCAAGATCTCAGCAGTGAAGTATAATCAGCACTTTGCCATGCTCAGAAAATTCAAATCACATGGAACTTTAGAGGTAGATTTAATACGATTAAGATATTCAGAAGTATATTTTAGAATCCCTGCCTGTTAAGGAAACTTTATTTGTGGTAGGTACAGTTCTGGGGTACATGTTAAGTGTCCCCTTATACAGTGGAGGGAAGTCTTCCTTCCTGAAGGAAAATAAACTGACACTTATTAACTAAGATAATTTACTTAATATATCTTCCCTGATTTGTTTTAAAAGATCAGAGGGTGACTGATGATACATGCATACATATTTGTTGAATAAATGAAAATTTATTTTTAGTGATAAGATTCATACACTCTGTATTTGGGGAGGGAAAACCTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGGTGCCTTGAAAATCACATCAAGTAGTTAATTATCTACCCCTTACCTGTGTTTATAACTTCCAGGTAATGAGAATGATTTTTTTTAAAGCTAAAATGCCAGTAAATAAAAGTGCTATGACTTGAGCTAAGATATTTGACTCCAATGCCTGTACTGTGTCTACTGCACCACTTTGTAAACACTTCAATTTACTATCTTTGAAATGATTGACCTTTAAATTTTTGCCAAATGTTATCTGAAATTGTCTATGAATACCATCTACTTCTGTTGTTTTCCCAGGCTTCCATAAACAATGGAGATACATGCA)$ . 20CO001 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 17 14 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(2),mismappers(1) GAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACA(GTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 20CO001 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 10 53 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . CCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGC---------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCtCTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 20CO001 ENSG00000151490.15 ENSG00000201727.1(120166),ENSG00000212191.1(158890) +/+ ./- chr12:15589590 chr4:178526996 CDS/splice-site intergenic translocation 2 2 0 107 4 high out-of-frame . Fibronectin_type_III_domain(100%),Protein-tyrosine_phosphatase(100%)| . . ENSG00000151490.15 . ENST00000281171.9 . downstream downstream . ^(AGTCATTAAAGAACAGCAGCGCCTGGCACGTTCTTGGAGGACCCCGGGCGCAGAGGAGGAAAGGGAGCAGGCGCAGGGGGACTGGAAAGGCAGCATGCGCTCGCCAGGAGCAACCTCGGCGCCCAGGGTCTGAGGCTGCAGCCCCAGTTCGCCATTGTGAGCCGCCGCCGGGGGAGTCCGCTAGCGCAGCCGTGCCCCCGAGTCCCCGTCCGCGCAGCGATGGGGCACCTGCCCACGGGGATACACGGCGCCCGCCGCCTCCTGCCTCTGCTCTGGCTCTTTGTGCTGTTCAAG___AATGCTACAGCTTTCCATGTAACTGTCCAAGATGATAATAACATCGTTGTCTCATTAGAAGCTTCAGACGTCATCAGTCCAGCATCTGTGTATGTTGTGAAGATAACTGGTGAATCCAAAAATTATTTCTTCGAATTTGAGGAATTCAACAGCACTTTGCCTCCTCCTGTTATTTTCAAGGCCAGTTATCATGGCCTTTATTATATAATCACTCTGGTAGTGGTAAATGGAAATGTGGTGACCAAGCCATCCAGATCAATCACTGTGTTAACAA___AACCTCTACCTGTAACCAGTGTTTCCATATATGACTATAAACCTTCTCCTGAAACAGGAGTCCTGTTTGAAATACATTATCCAGAAAAATATAACGTTTTCACAAGAGTGAACATTAGCTACTGGGAAGGTAAAGACTTCCGGACAATGCTATATAAAG___ATTTCTTTAAGGGAAAAACAGTATTTAATCACTGGCTGCCAGGAATGTGTTATAGTAATATCACCTTTCAGCTGGTATCTGAGGCAACTTTTAATAAAAGTACCCTTGTTGAGTACAGTGGTGTCAGTCACGAACCCAAACAGCACAGAACTG___CCCCTTATCCACCTCAAAATATTTCCGTTCGTATCGTAAACTTGAACAAAAACAACTGGGAAGAACAGAGTGGCAATTTCCCAGAAGAATCCTTCATGAGATCACAAGATACAATAGGAAAAGAAAAACTCTTCCATTTTACAGAAGAAACCCCTGAAATTCCCTCGGGCAACATTTCTTCCGGTTGGCCTGATTTTAATAGCAGTGACTATGAAACTACGTCTCAGCCATATTGGTGGGACAGTGCATCTGCAGCTCCTGAAAGTGAAGATGAATTTGTCAGCGTACTTCCCATGGAATACGAAAATAACAGTACACTCAGTGAGACAGAGAAGTCAACATCAGGCTCTTTCTCCTTTTTCCCTGTGCAAATGATATTGACCTGGTTACCACCCAAACCACCCACTGCTTTTGATGGGTTCCATATCCATATTGAACGAGAAG___AGAACTTTACTGAATATTTGATGGTGGATGAAGAAGCACATGAATTTGTTGCAGAACTGAAGGAACCTGGGAAATATAAGTTATCTGTGACAACCTTTAGTTCCTCAGGATCTTGTGAAACTCGAAAAAGTCAGTCAGCAAAATCACTCAGCTTTTATATCA___GTCCTTCAGGAGAGTGGATTGAAGAACTGACCGAGAAGCCGCAGCACGTGAGTGTCCACGTTTTAAGCTCAACCACTGCCTTGATGTCCTGGACATCTTCCCAAGAGAACTACAACAGCACCATTGTGTCTGTGGTGTCGCTGACCTGCCAGAAACAAAAGGAGAGCCAGAGGCTTGAAAAGCAGTACTGCACTCAG___GTGAACTCAAGCAAACCTATTATTGAAAATCTGGTTCCTGGTGCCCAGTACCAGGTTGTAATATACCTAAGGAAAGGCCCTTTGATTGGACCACCTTCAGATCCTGTGACATTTGCTATTG___TTCCCACAGGAATAAAGGATTTAATGCTCTATCCTTTGGGTCCTACGGCCGTGGTTCTGAGCTGGACCAGACCTTATTTAGGCGTGTTCAGAAAATACGTGGTTGAAATGTTTTATTTCAACCCTGCTACAATGACATCAGAGTGGACCACCTACTATGAAATAGCAGCAACTGTTTCCTTAACTGCATCCGTG___AGAATAGCTAATCTGCTGCCAGCATGGTACTACAACTTCCGGGTTACCATGGTGACGTGGGGAGATCCAGAATTGAGCTGCTGTGACAGCTCTACCATCAGCTTCATAACAG___CCCCAGTGGCTCCGGAAATCACTTCTGTGGAATATTTCAACAGTCTGTTATATATCAGTTGGACATATGGGGATGATACAACGGACTTGTCCCATTCTAGAATGCTTCACTGGATGGTGGTTGCAGAAGGAAAAAAGAAAATTAAAAAGAGT___GTAACACGCAATGTCATGACTGCAATTCTCAGCTTGCCTCCAGGCGACATCTATAACCTCTCAGTAACTGCTTGTACTGAAAGAGGAAGTAATACCTCCATGCTCCGCCTTGTCAAGCTAG___AACCAGCTCCACCCAAATCACTCTTCGCAGTGAACAAAACCCAGACTTCAGTGACTTTGCTGTGGGTGGAAGAGGGAGTAGCTGATTTCTTTGAAGTTTTCTGTCAACAAGTTGGCTCCAGTCAGAAAACCAAACTTCAG___GAACCAGTTGCTGTTTCTTCCCATGTCGTGACCATCTCCAGCCTTCTTCCTGCCACTGCCTACAATTGTAGTGTCACCAGCTTTAGCCATGACAGCCCCAGTGTCCCTACGTTCATAGCCGTCTCAACAATGG___TTACAGAGATGAATCCCAATGTGGTAGTGATCTCCGTGCTGGCCATCCTTAGCACACTTTTAATTGGACTGTTGCTTGTTACCCTCATTATTCTTAGGAAAAAGCATCTGCAGATGGCTAG___GGAGTGTGGAGCTGGTACATTTGTCAATTTTGCATCCTTAGAGAGGGATGGAAAGCTTCCATACAACTG___GCGTAGGAGTATATTTGCTTTCTTAACCCTGCTACCCTCATGTCTTTGGACTGATTATCTTTTGGCATTTTATATTAATCCTTG___GAGTAAAAATGGTTTAAAGAAGAGGAAACTGACAAA___CCCGGTTCAACTGGATGACTTTGATGCCTATATTAAGGATATGGCCAAAGACTCTGACTATAAATTTTCTCTTCAGTTTGAG___GAGTTGAAATTGATTGGACTGGATATCCCACACTTTGCTGCAGATCTTCCACTGAATCGATGTAAAAACCGTTACACAAACATCCTACCAT___ATGACTTCAGCCGTGTGAGATTAGTCTCCATGAATGAAGAGGAAGGTGCAGACTACATCAATGCCAACTATATTCCT___GGATACAACTCACCCCAGGAGTATATTGCCACCCAGGGGCCACTGCCTGAAACCAGAAATGACTTCTGGAAGATGGTCCTGCAACAAAAGTCTCAGATTATTGTCATGCTCACTCAGTGTAATGAGAAAAGGAGG___GTGAAATGTGACCATTACTGGCCATTCACGGAAGAACCTATAGCCTATGGAGACATCACTGTGGAGATGATTTCAGAGGAAGAGCAGGACGACTGGGCCTGTAGACACTTCCGGATCAACTAT___GCTGACGAGATGCAGGATGTGATGCATTTTAACTACACTGCATGGCCTGATCATGGTGTGCCCACAGCAAATGCTGCAGAAAGTATCCTGCAGTTTGTACACATGGTCCGACAGCAAGCTACCAAGAGCAAAGGTCC)CATGATCATTCACTGCAG___TGCTGGCGTGGGACGGACAGGAACATTCATTGCCCTGGACAGGCTCTTGCAGCACATTCGGGATCATGAGTTTGTTGACATCTTAGGGCTGGTGTCAGAAATGAGGTCATACCGGATGTCTATGGTACAGACAGAG|AACCACAAGAAATATATCTGAAATGCAATTCAAGGCTAATGTAACAACAAGGTTACAAATCTGAGCATATATGTCAGAACAGAAAAGTTACAGTTCTCATGGTAACATTATATCATCAGCATTATACTGCCTGCACAATAAAATACGTATTTAG MGHLPTGIHGARRLLPLLWLFVLFKNATAFHVTVQDDNNIVVSLEASDVISPASVYVVKITGESKNYFFEFEEFNSTLPPPVIFKASYHGLYYIITLVVVNGNVVTKPSRSITVLTKPLPVTSVSIYDYKPSPETGVLFEIHYPEKYNVFTRVNISYWEGKDFRTMLYKDFFKGKTVFNHWLPGMCYSNITFQLVSEATFNKSTLVEYSGVSHEPKQHRTAPYPPQNISVRIVNLNKNNWEEQSGNFPEESFMRSQDTIGKEKLFHFTEETPEIPSGNISSGWPDFNSSDYETTSQPYWWDSASAAPESEDEFVSVLPMEYENNSTLSETEKSTSGSFSFFPVQMILTWLPPKPPTAFDGFHIHIEREENFTEYLMVDEEAHEFVAELKEPGKYKLSVTTFSSSGSCETRKSQSAKSLSFYISPSGEWIEELTEKPQHVSVHVLSSTTALMSWTSSQENYNSTIVSVVSLTCQKQKESQRLEKQYCTQVNSSKPIIENLVPGAQYQVVIYLRKGPLIGPPSDPVTFAIVPTGIKDLMLYPLGPTAVVLSWTRPYLGVFRKYVVEMFYFNPATMTSEWTTYYEIAATVSLTASVRIANLLPAWYYNFRVTMVTWGDPELSCCDSSTISFITAPVAPEITSVEYFNSLLYISWTYGDDTTDLSHSRMLHWMVVAEGKKKIKKSVTRNVMTAILSLPPGDIYNLSVTACTERGSNTSMLRLVKLEPAPPKSLFAVNKTQTSVTLLWVEEGVADFFEVFCQQVGSSQKTKLQEPVAVSSHVVTISSLLPATAYNCSVTSFSHDSPSVPTFIAVSTMVTEMNPNVVVISVLAILSTLLIGLLLVTLIILRKKHLQMARECGAGTFVNFASLERDGKLPYNWRRSIFAFLTLLPSCLWTDYLLAFYINPWSKNGLKKRKLTNPVQLDDFDAYIKDMAKDSDYKFSLQFEELKLIGLDIPHFAADLPLNRCKNRYTNILPYDFSRVRLVSMNEEEGADYINANYIPGYNSPQEYIATQGPLPETRNDFWKMVLQQKSQIIVMLTQCNEKRRVKCDHYWPFTEEPIAYGDITVEMISEEEQDDWACRHFRINYADEMQDVMHFNYTAWPDHGVPTANAAESILQFVHMVRQQATKSKGPMIIHCSAGVGRTGTFIALDRLLQHIRDHEFVDILGLVSEMRSYRMSMVQTE|nhkkyi* 20CO001 ENSG00000151490.15 ENSG00000201727.1(147703),ENSG00000212191.1(131353) +/+ ./- chr12:15589590 chr4:178554533 CDS/splice-site intergenic translocation 2 0 1 107 0 high out-of-frame . Fibronectin_type_III_domain(100%),Protein-tyrosine_phosphatase(100%)| . . ENSG00000151490.15 . ENST00000281171.9 . downstream downstream . ^(AGTCATTAAAGAACAGCAGCGCCTGGCACGTTCTTGGAGGACCCCGGGCGCAGAGGAGGAAAGGGAGCAGGCGCAGGGGGACTGGAAAGGCAGCATGCGCTCGCCAGGAGCAACCTCGGCGCCCAGGGTCTGAGGCTGCAGCCCCAGTTCGCCATTGTGAGCCGCCGCCGGGGGAGTCCGCTAGCGCAGCCGTGCCCCCGAGTCCCCGTCCGCGCAGCGATGGGGCACCTGCCCACGGGGATACACGGCGCCCGCCGCCTCCTGCCTCTGCTCTGGCTCTTTGTGCTGTTCAAG___AATGCTACAGCTTTCCATGTAACTGTCCAAGATGATAATAACATCGTTGTCTCATTAGAAGCTTCAGACGTCATCAGTCCAGCATCTGTGTATGTTGTGAAGATAACTGGTGAATCCAAAAATTATTTCTTCGAATTTGAGGAATTCAACAGCACTTTGCCTCCTCCTGTTATTTTCAAGGCCAGTTATCATGGCCTTTATTATATAATCACTCTGGTAGTGGTAAATGGAAATGTGGTGACCAAGCCATCCAGATCAATCACTGTGTTAACAA___AACCTCTACCTGTAACCAGTGTTTCCATATATGACTATAAACCTTCTCCTGAAACAGGAGTCCTGTTTGAAATACATTATCCAGAAAAATATAACGTTTTCACAAGAGTGAACATTAGCTACTGGGAAGGTAAAGACTTCCGGACAATGCTATATAAAG___ATTTCTTTAAGGGAAAAACAGTATTTAATCACTGGCTGCCAGGAATGTGTTATAGTAATATCACCTTTCAGCTGGTATCTGAGGCAACTTTTAATAAAAGTACCCTTGTTGAGTACAGTGGTGTCAGTCACGAACCCAAACAGCACAGAACTG___CCCCTTATCCACCTCAAAATATTTCCGTTCGTATCGTAAACTTGAACAAAAACAACTGGGAAGAACAGAGTGGCAATTTCCCAGAAGAATCCTTCATGAGATCACAAGATACAATAGGAAAAGAAAAACTCTTCCATTTTACAGAAGAAACCCCTGAAATTCCCTCGGGCAACATTTCTTCCGGTTGGCCTGATTTTAATAGCAGTGACTATGAAACTACGTCTCAGCCATATTGGTGGGACAGTGCATCTGCAGCTCCTGAAAGTGAAGATGAATTTGTCAGCGTACTTCCCATGGAATACGAAAATAACAGTACACTCAGTGAGACAGAGAAGTCAACATCAGGCTCTTTCTCCTTTTTCCCTGTGCAAATGATATTGACCTGGTTACCACCCAAACCACCCACTGCTTTTGATGGGTTCCATATCCATATTGAACGAGAAG___AGAACTTTACTGAATATTTGATGGTGGATGAAGAAGCACATGAATTTGTTGCAGAACTGAAGGAACCTGGGAAATATAAGTTATCTGTGACAACCTTTAGTTCCTCAGGATCTTGTGAAACTCGAAAAAGTCAGTCAGCAAAATCACTCAGCTTTTATATCA___GTCCTTCAGGAGAGTGGATTGAAGAACTGACCGAGAAGCCGCAGCACGTGAGTGTCCACGTTTTAAGCTCAACCACTGCCTTGATGTCCTGGACATCTTCCCAAGAGAACTACAACAGCACCATTGTGTCTGTGGTGTCGCTGACCTGCCAGAAACAAAAGGAGAGCCAGAGGCTTGAAAAGCAGTACTGCACTCAG___GTGAACTCAAGCAAACCTATTATTGAAAATCTGGTTCCTGGTGCCCAGTACCAGGTTGTAATATACCTAAGGAAAGGCCCTTTGATTGGACCACCTTCAGATCCTGTGACATTTGCTATTG___TTCCCACAGGAATAAAGGATTTAATGCTCTATCCTTTGGGTCCTACGGCCGTGGTTCTGAGCTGGACCAGACCTTATTTAGGCGTGTTCAGAAAATACGTGGTTGAAATGTTTTATTTCAACCCTGCTACAATGACATCAGAGTGGACCACCTACTATGAAATAGCAGCAACTGTTTCCTTAACTGCATCCGTG___AGAATAGCTAATCTGCTGCCAGCATGGTACTACAACTTCCGGGTTACCATGGTGACGTGGGGAGATCCAGAATTGAGCTGCTGTGACAGCTCTACCATCAGCTTCATAACAG___CCCCAGTGGCTCCGGAAATCACTTCTGTGGAATATTTCAACAGTCTGTTATATATCAGTTGGACATATGGGGATGATACAACGGACTTGTCCCATTCTAGAATGCTTCACTGGATGGTGGTTGCAGAAGGAAAAAAGAAAATTAAAAAGAGT___GTAACACGCAATGTCATGACTGCAATTCTCAGCTTGCCTCCAGGCGACATCTATAACCTCTCAGTAACTGCTTGTACTGAAAGAGGAAGTAATACCTCCATGCTCCGCCTTGTCAAGCTAG___AACCAGCTCCACCCAAATCACTCTTCGCAGTGAACAAAACCCAGACTTCAGTGACTTTGCTGTGGGTGGAAGAGGGAGTAGCTGATTTCTTTGAAGTTTTCTGTCAACAAGTTGGCTCCAGTCAGAAAACCAAACTTCAG___GAACCAGTTGCTGTTTCTTCCCATGTCGTGACCATCTCCAGCCTTCTTCCTGCCACTGCCTACAATTGTAGTGTCACCAGCTTTAGCCATGACAGCCCCAGTGTCCCTACGTTCATAGCCGTCTCAACAATGG___TTACAGAGATGAATCCCAATGTGGTAGTGATCTCCGTGCTGGCCATCCTTAGCACACTTTTAATTGGACTGTTGCTTGTTACCCTCATTATTCTTAGGAAAAAGCATCTGCAGATGGCTAG___GGAGTGTGGAGCTGGTACATTTGTCAATTTTGCATCCTTAGAGAGGGATGGAAAGCTTCCATACAACTG___GCGTAGGAGTATATTTGCTTTCTTAACCCTGCTACCCTCATGTCTTTGGACTGATTATCTTTTGGCATTTTATATTAATCCTTG___GAGTAAAAATGGTTTAAAGAAGAGGAAACTGACAAA___CCCGGTTCAACTGGATGACTTTGATGCCTATATTAAGGATATGGCCAAAGACTCTGACTATAAATTTTCTCTTCAGTTTGAG___GAGTTGAAATTGATTGGACTGGATATCCCACACTTTGCTGCAGATCTTCCACTGAATCGATGTAAAAACCGTTACACAAACATCCTACCAT___ATGACTTCAGCCGTGTGAGATTAGTCTCCATGAATGAAGAGGAAGGTGCAGACTACATCAATGCCAACTATATTCCT___GGATACAACTCACCCCAGGAGTATATTGCCACCCAGGGGCCACTGCCTGAAACCAGAAATGACTTCTGGAAGATGGTCCTGCAACAAAAGTCTCAGATTATTGTCATGCTCACTCAGTGTAATGAGAAAAGGAGG___GTGAAATGTGACCATTACTGGCCATTCACGGAAGAACCTATAGCCTATGGAGACATCACTGTGGAGATGATTTCAGAGGAAGAGCAGGACGACTGGGCCTGTAGACACTTCCGGATCAACTAT___GCTGACGAGATGCAGGATGTGATGCATTTTAACTACACTGCATGGCCTGATCATGGTGTGCCCACAGCAAATGCTGCAGAAAGTATCCTGCAGTTTGTACACAT)GGTCCGACAGCAAGCTACCAAGAGCAAAGGTCCCATGATCATTCACTGCAG___TGCTGGCGTGGGACGGACAGGAACATTCATTGCCCTGGACAGGCTCTTGCAGCACATTCGGGATCATGAGTTTGTTGACATCTTAGGGCTGGTGTCAGAAATGAGGTCATACCGGATGTCTATGGTACAGACAGAG|CTAGGATTCCAAACAGCATGTTCTGGAGCCAAGTGATCTGGAATCTGCTTCCTAATTCC...ACAGAATGTGGACAAAATGGTGCAGTCATGTATCTGGCAATTtGAACAAGTACCTAGTAGTAATTTTCTTGGTGGGCAAGTTTTGTGGTGACGAACAGAAAGGCATTTGCCCAGGCCAAAACCAGAGGCTGCCTCTATAGCCTTCTCGAC MGHLPTGIHGARRLLPLLWLFVLFKNATAFHVTVQDDNNIVVSLEASDVISPASVYVVKITGESKNYFFEFEEFNSTLPPPVIFKASYHGLYYIITLVVVNGNVVTKPSRSITVLTKPLPVTSVSIYDYKPSPETGVLFEIHYPEKYNVFTRVNISYWEGKDFRTMLYKDFFKGKTVFNHWLPGMCYSNITFQLVSEATFNKSTLVEYSGVSHEPKQHRTAPYPPQNISVRIVNLNKNNWEEQSGNFPEESFMRSQDTIGKEKLFHFTEETPEIPSGNISSGWPDFNSSDYETTSQPYWWDSASAAPESEDEFVSVLPMEYENNSTLSETEKSTSGSFSFFPVQMILTWLPPKPPTAFDGFHIHIEREENFTEYLMVDEEAHEFVAELKEPGKYKLSVTTFSSSGSCETRKSQSAKSLSFYISPSGEWIEELTEKPQHVSVHVLSSTTALMSWTSSQENYNSTIVSVVSLTCQKQKESQRLEKQYCTQVNSSKPIIENLVPGAQYQVVIYLRKGPLIGPPSDPVTFAIVPTGIKDLMLYPLGPTAVVLSWTRPYLGVFRKYVVEMFYFNPATMTSEWTTYYEIAATVSLTASVRIANLLPAWYYNFRVTMVTWGDPELSCCDSSTISFITAPVAPEITSVEYFNSLLYISWTYGDDTTDLSHSRMLHWMVVAEGKKKIKKSVTRNVMTAILSLPPGDIYNLSVTACTERGSNTSMLRLVKLEPAPPKSLFAVNKTQTSVTLLWVEEGVADFFEVFCQQVGSSQKTKLQEPVAVSSHVVTISSLLPATAYNCSVTSFSHDSPSVPTFIAVSTMVTEMNPNVVVISVLAILSTLLIGLLLVTLIILRKKHLQMARECGAGTFVNFASLERDGKLPYNWRRSIFAFLTLLPSCLWTDYLLAFYINPWSKNGLKKRKLTNPVQLDDFDAYIKDMAKDSDYKFSLQFEELKLIGLDIPHFAADLPLNRCKNRYTNILPYDFSRVRLVSMNEEEGADYINANYIPGYNSPQEYIATQGPLPETRNDFWKMVLQQKSQIIVMLTQCNEKRRVKCDHYWPFTEEPIAYGDITVEMISEEEQDDWACRHFRINYADEMQDVMHFNYTAWPDHGVPTANAAESILQFVHMVRQQATKSKGPMIIHCSAGVGRTGTFIALDRLLQHIRDHEFVDILGLVSEMRSYRMSMVQTE|lgfqtacsgak* 20CO001 ENSG00000255639.3 ENSG00000139180.11 +/+ +/- chr12:4695393 chr12:4694344 intron 3'UTR inversion/3'-3' 16 4 0 35 22 medium . . . . . ENSG00000255639.3 ENSG00000139180.11 . . downstream downstream duplicates(1) CTAGAGTCCATACAGCAGGCAGCTTCAAGAGGTGATTACTTAGCTCAAGGTGGGTGAGTGGGACATGACTGCTGTCTCATTTCAAGGGCCCTCTGAGCCAGGTAATTTAGAGGAGGCTCACATTCCTCAGATAAAAGTTTCTTTTCTTTCTCATCCAAATGACTTTTATCAGTGATTACTAGGTTTTGAAGCCTAATACTTAGA|AGGTAAAAATTGCAGCTCTCAAACAGATGCAAAAGAAGAGCACATGCCAAAAATTTTATTTCATTTTTCAGTGAGGAATGTCCAAGGAGAATCC . 20CO001 ENSG00000171862.11 ENSG00000073734.10 +/+ -/+ chr10:87925557 chr2:168957743 CDS/splice-site intron translocation/5'-5' 2 0 0 207 0 medium out-of-frame . . . . ENSG00000171862.11 ENSG00000073734.10 ENST00000371953.8 . downstream upstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCT)CCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT|GTACAATGACTGTCTGAGTGCCCTGCGAGCCCAAATGAGAGTTCTCAGCTTTGC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNl|yndclsalraqmrvlsf 20CO003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 11 0 168 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 duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTA)GGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20CO003 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 7 13 0 42 29 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGA)CAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGcCCG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 20CO003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 18 0 26 70 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) GCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 20CO003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 21 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 low_entropy(1),mismappers(1),mismatches(2) GACCTTCGAGGAGCgCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGC(TACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20CO003 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 4 0 26 16 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream . CTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG(___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 20CO003 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 6 5 0 13 65 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream . GGTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGT(GGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 20CO003 ENSG00000164151.12 ENSG00000253766.1 +/+ +/+ chr5:5468988 chr5:21683717 CDS/splice-site intron deletion 0 4 0 35 12 medium out-of-frame . . . . ENSG00000164151.12 ENSG00000253766.1 ENST00000296564.9 . downstream upstream . ^(GGACTGCGTCGCGCTCGGGGGCCGCGCCGGGTAGCGTTTCTTTTTAGTGCCTGAGGCAGCTCTGGCTCGGAGAGCCTTTTGCTAGCCCCACGGGGACCTCTGTGCACGGATGGACCCGCCCGGACCTGGCGGGAAGCGGCCTGGCAGGCGGCGGCCCCGGCGGCATCAGCAGAGACAGGACGGGGCCGACGCCGCGGGCCCCTGAGGCGTGCGTGCCCACCGGGCCCGGCGGCGGCACCATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAG___AATTTGAATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAATACAGA___TAATTTGTTAACAGAATATCAGAAGAAATGTGATG___AGCTGCAGTTTGCAAGAAG___AGAGAATAGTAATCTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAG___AGTTCTTTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCA___GAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTGCAAG___AGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAG___GAAAGGCTTGACGAATTTTCTAAACAGAAAAATGAAAAGG___AGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAA___GAAAAGTGAAACTGCTTCTGAAGGAACTCTGGCTCTGTGTAAACACAACACACAGACTACCTGGTGAAGGCAGCAGGTGTGTCCCAG___AAAAACCTGCCAAAGCAATCACCAGCTCCAGAGTGCCTGGGGAAGATGGTACGCTACCTCCAACACAGGGCAGCCCTCTCAGGACCTCAAATGTGCAGACATGCCTCACAAAACTGTCCATGGAGATAAAGGAGGACTTTTTATGTCAAAATGTGGAAAAACAGAGCTCCAGTGGAACAAATTGTAGTTCTGACCATGTTTTTAATGAGAATGGAAATCTTGAGGTTTTAGTACAAAGTCATCGTGACGGTGGTAGTACTGAATTTGTTGATCATGATCATTTTTTTGATGAAGATCTTCAAGCTGCAATTGACTTCTTCAAACTTCCCCCTCCTCTTCTGTCACCAGTGCCCTCGCCCCCTCCGATGTCATCACCTCACCCGGGTTCCTTACCGTCTTCATTTGCACCT___GAAACCTACTTTGGAGAATACACAGATTCCAGCGATAATGACTCAGTCCAGCTTAGAAATTCTGCTGAGTGTGTTTCAGAAGATGATACAACTGAATCACAGAATTATTTTGGCTCATTGAGAAAAAATAAAGGAAGTGGCACATGGGAGGAAAAGCCCAAATCACATGAAGCTATCCAAGCTCTGAATACATGGGAAGTAAATAAAGTGACAACTTCTGGACTCGAGACTTTCACAGCAACACTGAGAGAATCTTCTGCCACACACTCCTTAGTTGGTGAAAAACACTGGACCACAGCATCTCGATCCATGAGTGATAGAAAAAGAGACATTTTACATGAGACAAAAACACAAATGGAGGTTAGGGAGATGGATAAGTCAGTACAAACTGAGAAGACCATTCATAAACTCACTCGAGGTCTATGCATTGAGAGATTGTCTGCCAGCCCTGCACAAGAGAAGGAAGCTGCCCCTGGGAAGTCTGAGTTGTGTTCTTCTCCCCTTGGCAAAAGGCCATTAAATGAACTCATGGAATCTGAAGGAAAAACCGTATTGTCTAAAATGATGGGATCGCCCAAATCAGAGTTTACTAAGTGGACACGAATTAATGAAATCACTTCTGAACCAGACCGTATCACAGTTTCTGGCCATTTTCACAGACTATCTAGAGAATTGGAAAAGGAAAAAGAAGATACTCAAGGGTTCACTTTAGGAGAATCACCTGAATCAGAAGATGATGACTCAGGTGATGGAATGGATGTAGCAGGGCTTGACATTGAAACCAGTTTTTCTTCCTCTTCTACCTTGGTAGCATTGTCTGTTGGCAGTAATCCCCAGTCTTCTTCTGGGTTAGACTGTGGTAATGATACAGATATTACTACTAAAGTATTCTCTACTGAACCGCATCATTCAGAACATAAATTGCAAACTAAAACTTTAAACACATTACATCTGCAGTCTGAGCCACCGGAGTGTTCTATAGGAGGAAACAACTTGGAGAATAGCTTGTGTGCCTTGAGCCCTGAATTGGGAGCATCTAATTTTAATGATCAGAAGAGCAGTGGGATAGAATATACAAAAGTAGTAAAAGGCTTGACCAAAATACATTCACTTCCTCGGTCAGTATTTATGAAAGCTACAAAAGATGGGCAATGTGAAAGTCAAGATCCAAGAATTGAGCTCACACTAAATAAGCCAGATTTCACATCATTAATAGGTTCTCAGGCTGCCTTGATCAAGAGTGGTTTGGGTTTTGTTAAAAGTACTTCATGGCACCATAGTGATTTATTAAGGAAAGGTGGCGAAGAAAGTCTGAGAGCCAAATCAGAACATGAACAGAAGACTAGCCATCAGTTACAAAAGGCAATGCCATTCCTACAAAATAGAGGACCAACACCCAAGCCTGATCTTCTTAGAGAAAATAACAATCCTGTAGAATTCAAGACCACTGCATCGGTGTTGCCTAATCAAGTATCAGTTATCACAAAACAGACAAGACCTGAAAAGGTTCAGAGTGCCAAATTGGAACACTTGAGGCCACATAGGGTTGAGCCTACCTTAGTAACAGAAAATAGTGGCAACAAAACCGGTATGTCAACTGTAGCAAAATGTGATGGGGAAAGAGATGATACAACACAAAACATCACGGAGGTGGCTGCTGTGAAAAGCATTTCACCAGAAGTTTCTGCCTCTAGGAGAAAATTAGATTTTAATTCTCCAGGTGGTTCTTCACCAGTAGAAAATTCTGATTGTTCCACAAATAGCAGATTATCTTTCTCTCCTGAAAATATCCTCATCCAAAACCAAGACATTGTGAGAGAAGCTGCAGTGCAGGGAGATGGGCAGAAGCAAAGGCAGCCTCAGGCCACAGATCTGGACTCCAGTGGGACACATGGCAGTGAGATGCTTCCAGCCACAGAAGTGACTGTGTCAGGAGGGTTTTCTGTTGAAGAAACCAGCTGTGGAGACACAGGGAGATCTGGTGGTGAGGCCCTGGCTGTTGCAAATGATTCTACCAGCACACCACAAAATGCTAATGGACTTTGGAAATTGAAATCTACAACTCCCGGTGGTGCTTTGCCTGAGTGTTTTGGCACCACAGACACTACTTTTTCTTCAGCATTTTGCAGAAAACATGGAGAGACACAGGATACCTCCCAAAGTAGCCTGCCTGGTACCTTACATTGTTACACAGGCATTCGAGAGGGGGGAGACGACACTGAGGTAGAGAGTGAGGCATTTAGCTGCAGTGAGGGGAGCGAACAGCAAGATGCTCCTGATGACTCACAGAAAAATTTAGGAGACACAGATGCTGCTGTAGCCGAGGTGAGACCTTCCTTAGAGGTAGGTTATTTGACGTCAGCTCTGCAAGATTTTAACATAAGTACTTTTTCTGAGCTGGATAGACTTTCCACATCAGAGGTTGTGATGTTTCTTGAGAGCTGTCAGTTAGGGGATTATAGTTCAGGGGACTCTGTTTCTGAATGTTCTAGTAAAGGAACCCTAAGTAAAGAAATGAACAAAGAATTAAAGGCAAGTGAAATAGGAGAAAAATACAGAAAGCAACCCTGTGAGGAAGAAACACTTGGAACCTGTGAAGAGTGGATTGAATCAGAGGAAGATGATTATTCGTTAAAAAATACAAGTCAGCTCACTCAGTGTTCTTTGGAAACTCTGTCTGAGGTTCTGACCAAGATTAGGCAAGAACTTCAAACAAATTCTGAAGATTGCAATGGTAAAGATACTGGCAGTTTATTGCTCTTAAATGTAAATAACAACATGACCACTGAGAATTTAAAAGAGAAAAGTCCATTTCGGGAAACGACTGGCTCCTCATCACATGCTTCAGAACCAACCCCACAAGCAGCTGCCTTGGACACTGAGGGCAGCTCTCCCATCAGCGGTATGCCTCAGAATGAAAACCCTCAGAGCAGACCAGAGGCCCGTTCAGATGCAGGCAGGCAAACCGATGGTGGGGAAGAAGACCTGCCAGAACCTGTGGAGCCATCAGCCTTGTGCTCTGACTCTGTGATGGAGCCATCCATAGAGCAAAGTTCTAACTGCGAGGCCGAAACAACATTTCAGTGTCAGATAGCAACAGTGACCTCAGAAGTTATAAACGTACTTATAAATAAGGATCAGAATCTAGTCATTGAAAAGGGGGACAACTGGACAATCATCAGTGGTGTAGCTGTCTTGCCACATGTGGACCAGGTCACACTGTGTGACATTCCTGGAGACATCCCTATTTCTCAGGATCAAGGAGAGCTGGAAGCTGGTTGCATCCCAGTGACTTCTGCTGAGAAGTCCCCAGAGGCCAGTCACACTGGCCCTGCATTTCAGGAGGCTCCATGTGGCAATAATCTTTCATGTCCCCAAGAGGATGTTTCAAGCAGTGGTCAGAGCACCAACTTTGATAAGAGTCGTTTGCGAAATAGACCCGTTAAGCCTAGTATATGGATTAGTTCTCAAATCTATGATCAAAACTTCGAGACTCAGATTGTTGCGTCTGATCACACATATTATAACTCAAAACTAGAGCCATCTGGCAAAAATAAGAATCGATCAAAGATTTCAAACAAAGATCAGTCAAACAAACCAGTAAAAACTTCAGCGTCGAGCAGAGTTGAAACTCATCAGAGTGAAGTTGCTCAGTCATTTTCAGGGGAAAAAGCTAATACAAAAACTCAAAGAAGCCAAACTCAGACCATTTTAGCAAATGCTGATACATCCACTCCTACAGATTGTTCTCCTGACACACTGAGTAAAATACGGCAAGAGGTGGGGCCTCCTTTGCCGCCTCTGCTTGCTCCTCTGATAGCTACACCTCCAAGGACTTCACAGCCACTGTCTCCACTGATATCGAGTTCTAGTCCTTCCTCACCAGCCTCTCCTGTTGGCCAGGTTTCTCCCTTCCGTGAAACCCCAGTGCCTCCTGCCATGTCTCCATGGCCAGAGGACCCCAGACGTGCCTCTCCTCCAGATCCTTCTCCATCTCCATCTGCAGCTTCAGCCAGTGAGAGGGTAGTGCCGTCTCCTCTGCAGTTCTGTGCGGCCACGCCGAAGCACGCACTTCCTGTGCCTGGCCGACTCCCACCCTGTGCATCTGGCCACGCTGCTGTGGGAGGGCCTCAGGAGAATTCTGTGAAAATCCTTGACACCATGTATCCAGAGTTATCTGCCAGGGCCCGGACCCTCAACATCCTCAAAGGGAATATTCAACTCACACGAGGTCCGCCTGCTGACTGTAAGAATTTACCGGGACCTGCCAGTGCTATGATAGGATTCAAAACGATCACTTCAGCAGCAACTGCTTTTGTCAAAACTGGGAGCAGCTCTGGTGGTGACTGTAACCAAGACAAGTCAAGAGATTTGGGGACTCAGCAGGATTCAAGCGGGAAAAGAACACTGTCAACGTCTACACTGAGAAGTGCTAAAAGACTGCGCCTGGACACTGGGTCCCCAGAACCAGAAACCAGGGGAGTCACTGCAGAAGGAATCCACAAAAACCTCCCAGGGAACCTCCCTCCAGCTGAAGTTGCAACAACAAATGAGGAAAGAAGTTGTTCTAGTCCAGCCGTCAGTGCAGTTTCACAGTTGCCTTTAAGCCCAAAAGAAACTGTGGAGTCCCATGATAAAGCCATAGCTAATGCCCTGAAGAAAATTGCAGAGTTTTCTTTTGATCTGTTACCTGTCATTCGTAGTCATGTGTATGTGGGAAATATCTCCAAAAAGCCCGTAATGAGAGATCAAGAGAAGGAAGTTGTTTATGAATTTAGCACAACAAAAAAG___CATTTAGCAGAGTGCTTGCTTCACTCTATTCTCTCAGAACTAAAAATTCAGAAGATATCTATGGACCACAATTACATTCACGCCCTCTGCAGGGTGTATGTGGGTATTTGTCGGCAACTCGGAGACTTGGAAAGAGCTCGTTTGTTTTGCTACAGCCTACTTAAAGAAG___ATTTTCCGGAGTCTGAAAAATTAACTTTGTTTATTGCAAACATGTGGCATGATATATTTCTCTCTCAATC)GGTGATTAATAAAGCAATGCAGTTAGTTGCCAGGCAACGTGCTAAAGGAGAGGTTCTGAACTGCTTGAGAGCTTTTCTTAATTGGGAAAAG|GAATTGATACGGCTGGGCACGGTAGCTCACGCCTATAATCCCCAGCATTTTGAGAAGCCGAGGTGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACTCCGACTCTGCTAAAAATACAAAAATGAGCCAGGCATGATGGTGCGCATCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCATGGACCCTGGAGGCACAGTTTGCAGCG MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQEELGSLKAELEEKKSSLKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKNEKELRHIGTQISSDSYGSIDKRKVKLLLKELWLCVNTTHRLPGEGSRCVPEKPAKAITSSRVPGEDGTLPPTQGSPLRTSNVQTCLTKLSMEIKEDFLCQNVEKQSSSGTNCSSDHVFNENGNLEVLVQSHRDGGSTEFVDHDHFFDEDLQAAIDFFKLPPPLLSPVPSPPPMSSPHPGSLPSSFAPETYFGEYTDSSDNDSVQLRNSAECVSEDDTTESQNYFGSLRKNKGSGTWEEKPKSHEAIQALNTWEVNKVTTSGLETFTATLRESSATHSLVGEKHWTTASRSMSDRKRDILHETKTQMEVREMDKSVQTEKTIHKLTRGLCIERLSASPAQEKEAAPGKSELCSSPLGKRPLNELMESEGKTVLSKMMGSPKSEFTKWTRINEITSEPDRITVSGHFHRLSRELEKEKEDTQGFTLGESPESEDDDSGDGMDVAGLDIETSFSSSSTLVALSVGSNPQSSSGLDCGNDTDITTKVFSTEPHHSEHKLQTKTLNTLHLQSEPPECSIGGNNLENSLCALSPELGASNFNDQKSSGIEYTKVVKGLTKIHSLPRSVFMKATKDGQCESQDPRIELTLNKPDFTSLIGSQAALIKSGLGFVKSTSWHHSDLLRKGGEESLRAKSEHEQKTSHQLQKAMPFLQNRGPTPKPDLLRENNNPVEFKTTASVLPNQVSVITKQTRPEKVQSAKLEHLRPHRVEPTLVTENSGNKTGMSTVAKCDGERDDTTQNITEVAAVKSISPEVSASRRKLDFNSPGGSSPVENSDCSTNSRLSFSPENILIQNQDIVREAAVQGDGQKQRQPQATDLDSSGTHGSEMLPATEVTVSGGFSVEETSCGDTGRSGGEALAVANDSTSTPQNANGLWKLKSTTPGGALPECFGTTDTTFSSAFCRKHGETQDTSQSSLPGTLHCYTGIREGGDDTEVESEAFSCSEGSEQQDAPDDSQKNLGDTDAAVAEVRPSLEVGYLTSALQDFNISTFSELDRLSTSEVVMFLESCQLGDYSSGDSVSECSSKGTLSKEMNKELKASEIGEKYRKQPCEEETLGTCEEWIESEEDDYSLKNTSQLTQCSLETLSEVLTKIRQELQTNSEDCNGKDTGSLLLLNVNNNMTTENLKEKSPFRETTGSSSHASEPTPQAAALDTEGSSPISGMPQNENPQSRPEARSDAGRQTDGGEEDLPEPVEPSALCSDSVMEPSIEQSSNCEAETTFQCQIATVTSEVINVLINKDQNLVIEKGDNWTIISGVAVLPHVDQVTLCDIPGDIPISQDQGELEAGCIPVTSAEKSPEASHTGPAFQEAPCGNNLSCPQEDVSSSGQSTNFDKSRLRNRPVKPSIWISSQIYDQNFETQIVASDHTYYNSKLEPSGKNKNRSKISNKDQSNKPVKTSASSRVETHQSEVAQSFSGEKANTKTQRSQTQTILANADTSTPTDCSPDTLSKIRQEVGPPLPPLLAPLIATPPRTSQPLSPLISSSSPSSPASPVGQVSPFRETPVPPAMSPWPEDPRRASPPDPSPSPSAASASERVVPSPLQFCAATPKHALPVPGRLPPCASGHAAVGGPQENSVKILDTMYPELSARARTLNILKGNIQLTRGPPADCKNLPGPASAMIGFKTITSAATAFVKTGSSSGGDCNQDKSRDLGTQQDSSGKRTLSTSTLRSAKRLRLDTGSPEPETRGVTAEGIHKNLPGNLPPAEVATTNEERSCSSPAVSAVSQLPLSPKETVESHDKAIANALKKIAEFSFDLLPVIRSHVYVGNISKKPVMRDQEKEVVYEFSTTKKHLAECLLHSILSELKIQKISMDHNYIHALCRVYVGICRQLGDLERARLFCYSLLKEDFPESEKLTLFIANMWHDIFLSQSVINKAMQLVARQRAKGEVLNCLRAFLNWEK|elirlgtvahaynpqhfekprwvdhevrslrpa* 20CO004 ENSG00000244194.3(8498),ENSG00000163734.4(16215) ENSG00000163735.7 ./- -/- chr4:74020374 chr4:73998338 intergenic CDS/splice-site deletion/read-through 27 140 0 258 571 high . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . . ENSG00000163735.7 . ENST00000296027.5 upstream downstream duplicates(27),low_entropy(5) CGGTAAATTCACTAGAGTGAATTCAAGACAATATGGGGACTGAAGTCACATCCTGCAGCTACATGGAACCTGAGAATGGAGCCAGCACTAGAG|CTGGTCCTGCCGCTGCTGTGTTGAGAGAGCTGCGTTGCGTTTGTTTACAGACCACGCAgGGAGTTCATCCCAAAATGATCAGTAATCTGCAAGTGTTCGCCATAGGCCCACAGTGCTCCAAGGTGGAAGTGGT___AGCCTCCCTGAAGAACGGGAAGGAAATTTGTCTTGATCCAGAAGCCCCTTTTCTAAAGAAAGTCATCCAGAAAATTTTGGACGG___TGGAAACAAGGAAAACTGATTAAGAGAAATGAGCACGCATGGAAAAGTTTCCCAGTCTTCAGCAGAGAAGTTTTCTGGAGGTCTCTGAACCCAGG(GAAGACAAGAAGGAAAGATTTTGTTGTTGTTTGTTTATTTGTTTTTCCAGTAGTTAGCTTTCTTCCTGGATTCCTCACTTTGAAGAGTGTGAGGAAAACCTATGTTTGCCGCTTAAGCTTTCAGCTCAGCTAATGAAGTGTTTAGCATAGTACCTCTGCTATTTGCTGTTATTTTATCTGCTATGCTATTGAAGTTTTGGCAATTGACTATAGTGTGAGCCAGGAATCACTGGCTGTTAATCTTTCAAAGTGTCTTGAATTGTAGGTGACTATTATATTTCCAAGAAATATTCCTTAAGATATTAACTGAGAAGGCTGTGGATTTAATGTGGAAATGATGTTTCATAAGAATTCTGTTGATGGAAATACACTGTTATCTTCACTTTTATAAGAAATAGGAAATATTTTAATGTTTCTTGGGGAATATGTTAGAGAATTTCCTTACTCTTGATTGTGGGATACTATTTAATTATTTCACTTTAGAAAGCTGAGTGTTTCACACCTTATCTATGTAGAATATATTTCCTTATTCAGAATTTCTAAAAGTTTAAGTTCTATGAGGGCTAATATCTTATCTTCCTATAATTTTAGACATTCTTTATCTTTTTAGTATGGCAAACTGCCATCATTTACTTTTAAACTTTGATTTTATATGCTATTTATTAAGTATTTTATTAGGAGTACCATAATTCTGGTAGCTAAATATATATTTTAGATAGATGAAGAAGCTAGAAAACAGGCAAATTCCTGACTGCTAGTTTATATAGAAATGTATTCTTTTAGTTTTTAAAGTAAAGGCAAACTTAACAATGACTTGTACTCTGAAAGTTTTGGAAACGTATTCAAACAATTTGAATATAAATTTATCATTTAGTTATAAAAATATATAGCGACATCCTCGAGGCCCTAGCATTTCTCCTTGGATAGGGGACCAGAGAGAGCTTGGAATGTTAAAAACAAAACAAAACAAAAAAAAACAAGGAGAAGTTGTCCAAGGGATGTCAATTTTTTATCCCTCTGTATGGGTTAGATTTTCCAAAATCATAATTTGAAGAAGGCCAGCATTTATGGTAGAATATATAATTATATATAAGGTGGCCACGCTGGGGCAAGTTCCCTCCCCACTCACAGCTTTGGCCCCTTTCACAGAGTAGAACCTGGGTTAGAGGATTGCAGAAGACGAGCGGGAGCGGGGAGGGCAGGGAAGATGCCTGTCGGGTTTTTAGCACAGTTCATTTCACTGGGATTTTGAAGCATTTCTGTCTGAATGTAAAGCCTGTTCTAGTCCTGGTGGGACACACTGGGGTTGGGGGTGGGGGAAGATGCGGTAATGAAACCGGTTAGTCAGTGTTGTCTTAATATCCTTGATAATGCTGTAAAGTTTATTTTTACAAATATTTCTGTTTAAGCTATTTCACCTTTGTTTGGAAATCCTTCCCTTTTAAAGAGAAAATGTGACACTTGTGAAAAGGCTTGTAGGAAAGCTCCTCCCTTTTTTTCTTTAAACCTTTAAATGACAAACCTAGGTAATTAATGGTTGTGAATTTCTATTTTTGCTTTGTTTTTAATGAACATTTGTCTTTCAGAATAGGATTCTGTGATAATATTTAAATGGCAAAAACAAAACATAATTTTGTGCAATTAACAAAGCTACTGCAAGAAAAATAAAACATTTCTTGGTAAAAACGTATGTATTTATATATTATATATTTATATATAATATATATTATATATTTAGCATTGCTGAGCTTTTTAGATGCCTATTGTGTATCTTTTAAAGGTTTTGACCATTTTGTTATGAGTAATTACATATATATTACATTCACTATATTAAAATTGTACTTTTTTACTATGTGTCTCATTGGTTCATAGTCTTTATTTTGTCCTTTGAATAAACATTAAAAGATTTCTAAACTTCA)$ . 20CO004 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 16 21 0 38 61 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) GGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTAC(ACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 20CO004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 13 1 30 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(3),mismappers(1),mismatches(1) GAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGC(TACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20CO004 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 9 12 1 34 34 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(3) AGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...CTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGAGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGAC(CGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 20CO004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 13 0 26 98 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4),mismappers(2) GGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGaGTcGGCAGCAGCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGT(CTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 20CO004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 6 0 46 12 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCT)GTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGG?CCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFL?QSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 20CO004 ENSG00000237575.4 ENSG00000160606.11 +/- -/- chr17:28227767 chr17:28725563 exon CDS/splice-site duplication/3'-3' 2 4 0 4 71 high . . |TLC_domain(100%) . . ENSG00000237575.4 ENSG00000160606.11 . ENST00000394933.7 upstream downstream . CCTCACCACAGGTCTGCGCCTCCGGCCTGCGGGATCGAAGGGAAAGGAATCCGATCCGGGGAGGCAAGCCTGGGAGACGTC|TGTATGGCAGACTCCTGACATGTTAGTGGAGATTGAGACGGCGTGGTCACTTTCTGGCTATTTGCTCGTTTGCTTCTCTGCGG___GGTATTTCATCCACGATACGGTGGACATCGTGGCTAGCGGACAGACGCGAGCCTCTTGGGAATACCTTGTCCATCAC(GTCATG___GCCATGGGTGCCTTCTTCTCCGGCATCTTTTGGAGCAGCTTTGTCGGTGGGGGTGTCTTAACACTACTGGTGGAAGTCAGCAACATCTTCCTCACCATTCGCATGATGATGAAAATCAGTAATGCCCAGGATCATCTCCTCTACCGGGTTAACAAGTATGTGAACCTGGTCATGTACTTTCTCTTCCGCCTGGCCCCTCAGGCCTACCTCACCCATTTCTTCTTGCGTTATGTGAACCAGAGGACCCTGGGCACCTTCCTGCTGGGTATCCTGCTCATGCTGGACGTGATGATCATAATCTACTTTTCCCGCCTCCTCCGCTCTGACTTCTGCCCTGAGCATGTCCCCAAGAAGCAACACAAAGACAAGTTCTTGACTGAGTGAGGGGCACAGAGCCTGGGACAACAAAAACGGACAAGGCCAGAAACAGCTTCATATGGA)$ . 20CO004 ENSG00000105289.15 ENSG00000229953.1 +/+ -/- chr19:3735935 chr1:156646686 CDS/splice-site exon translocation 0 2 0 96 25 medium out-of-frame . PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000105289.15 ENSG00000229953.1 ENST00000541714.7 ENST00000448869.1 downstream downstream . ^(AGTTCCACTGGCAGGGGACCTGCCTCCCTGTTGCCACCACAAGAGAGGAAAAGTTGGTCAAACAGGTGGGGAGGCCAGAGCTACAAGCCTCGGGTTCCCTCCCCACCACCCGTGCCAGGCAGGCACCCGGGCCCTGGCACCTGCTGCCTGCCCAGAGGCCACCCAGCCTCCTAGACAG___GTGGCTGACATGGAGGAGCTGACCATCTGGGAACAGCACACGGCCACACTGTCCAAG___GACCCCCGCCGGGGCTTTGGCATTGCGATCTCTGGAGGCCGAGACCGGCCCGGTGGATCCATGGTTGTATCTGACGTGGTACCTGGAGGGCCGGCGGAGGGCAGGCTACA___GACAGGCGACCACATCGTCATGGTGAACGGGGTTTCCATGGAGAATGCCACCTCCGCGTTTGCCATTCAGATACTCAAGACCTGCACCAAGATGGCCAACATC___ACAGTGAAACGTCCCCGGAGGATCCACCTGCCCGCCACCAAAGCCAGCCCCTCCAGCCCAGGGCGCCAGGACTCGGATGAAGACGATGGGCCCCAGCGGGTGGAGGAGGTGGACCAGGGCCGGGGCTATGACGGCGACTCATCCAGTGGCTCCGGCCGCTCCTGGGACGAGCGCTCCCGCCGGCCGAGGCCTGGTCGCCGGGGCCGGGCCGGCAGCCATGGGCGTAGGAGCCCAGGTGGTGGCTCTGAGGCCAACGGGCTGGCCCTGGTGTCCGGCTTTAAGCGGCTGCCACGGCAGGACGTGCAGATGAAGCCTGTGAAGTCAGTGCTGGTGAAGAGGAGAGACAGCGAAG___AGTTTGGCGTCAAGCTGGGCAGTCAGATCTTCATCAAGCACATTACAGATTCGGGCCTGGCTGCCCGGCACCGTGGGCTGCAGGAAGGAGATCTCATTCTACAG___ATCAACGGGGTGTCTAGCCAGAACCTGTCACTGAACGACACCCGGCGACTGATTGAGAAGTCAGAAGGGAAGCTAAGCCTGCTGGTGCTGAGAGATCGTGGGCAGTTCCTGGTGAACATTCCGCCTGCTGTCAGTGACAGCGACAGCTCGCCATTGGAGG___ACATCTCGGACCTCGCCTCGGAGCTATCGCAGGCACCACCATCCCACATCCCACCACCACCCCGGCATGCTCAGCGGAGCCCCGAGGCCAGCCAGACCGACTCTCCCGT___GGAGAGTCCCCGGCTTCGGCGGGAAAGTTCAGTAGATTCCAGAACCAT)CTCGGAACCAGATGAGCAACGGTCAG___AGTTGCCCAGGGAAAGCAGCTATGACATCTACAGAGTGCCCAGCAGTCAGAGCATGGAGGATCGTGG|CCCCTAGGACCAGGGGCCAGGGGCCAGGGGCCAGGGTCCTGCAGCCCTACCTCTAGGTCCTCCAGGACCACCCCGACGGTCTCCAGACCCATCCCCCAAAGTCTCCCAGTCAATTCAGCCCCCAGGATTCCTTGCCCTGCTCTCAGAGTCTTCCAC(TTCCTCTCCAAAATTCCTAGACCA)$ MEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRg|p* 20CO007 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 5 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 mismappers(1),mismatches(1) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20CO007 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 4 0 16 14 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1),mismatches(1) CGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___AAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAG?GGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCC(ACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 20CO007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 2 0 163 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 duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTT)GGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20CO007 ENSG00000160973.8(2673),ENSG00000160972.9(11508) ENSG00000160972.9 ./+ +/+ chr8:144478522 chr8:144490034 intergenic 5'UTR deletion/read-through 11 2 0 22 44 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(1) CTCGGGAGACGCGGCTGCCGGCACGCGGGCGCCCAGGGCACAGGTCCCGCCGGGCCGCCTTGGGCGTTGCTGGCTGAGGCCCAGGGCAGCAGGTGCCAACGGTCAGGAAAGGCAGGGAGCCGAAGGCTGCCGGTGGGCGCTTCGCGTTTTGTTCCAAGGCGAAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACcCCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGA(GAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 20CO007 ENSG00000280145.3 ENSG00000275496.4 -/- -/- chr21:6668152 chr21:6230951 exon/splice-site exon/splice-site deletion 2 0 0 13 72 medium . . . . . ENSG00000280145.3 ENSG00000275496.4 ENST00000623313.1 ENST00000621924.4 upstream downstream duplicates(3),mismappers(1),mismatches(1) ^(TTTCGCCTCCTGCAC)CTTGgGAGCCCTGGGCTACTCTtTCACgGCCCCTGTTGCCCTGtGATCTGTAGGTCCTTGGGGACGCAcAGTTAAGGTGCCAGGACATCCTGGAAGCTGGGAAATG___ACCATGGCTGGAGAAGGAAAGAAGGTGTGTTTTGCCTGATTCAGGGACTATAGAGAGAACCAAGTTCTGCAGGCCTGTCAcCTAAGTCTCAG|GCATCATAGCTGGGAAACGGATTCACAAGACCCAGGCTGTTCCCTACATATGTTTCCTCCTCCGACATCAGTTCAcCA(GTCAATCAAGCCATGTGAGAGTGGAGGCCTTGTATTCCCTATTATTCTTGGGCACTCTACTCCAAGTAGGAAAAGGCCAGGAGGTCCTGTTAAAGGATGCACTCAGAGCCCGGGCTCCCTAACATATGAGAGTGCTAACCAGCAGGTGTAGACTTTTCAGGAGTGAAGAATGAGGCAGGCATTCCAAACCTGGACCTTCATCACCTTTTGTTTCATCTCAAGACAATTCTGAGGGACTGTTTTGGAGCGTGTCTGGAAGGTGAACCTTGAAGAAGAGTGTGGGCTTTGATGTGACTCAGTTGAGATCTTTCATGGGGAGGCAGGAATTCAATGCCCAGAATCTGGGCTGGTGTCTTTGAGGTCAGTAGGTTGCGTCTTTGTATCCAAGTCCATTGTTACTAGGTTGGAGGCTGGAGATTCTAAATGGCTTCCAGACCATCTCTCTGATTCTCTTTGGGAGATGGGGTCTGAAAGACAATGTCAGTAGTTTTGGGAAATTCTAGAAAGTGTGCTTGGAAACGTGGGAAGAGCTCTTGCCTAGTGCCTAAATGCTCCATTTGCAGCTCTAGCCAAGTAGATACTTGGTAGGTATAGAGCCGGGTTTGCGTTTATATCAGCAAAACCTATGTCAGAGTTGAAGAAGTAGTCAGGAAAAAGCGTCTTGGTCGCAGGCCGGGGAACATCTTAAAAGCAAACTTCTAGCCTGCTGACTCTTGGCAATGAGTGTTGGATCCTGGCTAAAGTGCCTTGAATGCAGCATGAGGCCAATCCATGAATCCAACTTCTCATGGAGAAATGTTAATATTTTTTCAGTTTGAATCAATCAGGGTGAAACTACCATGCTATTGGTTTGCTTACTTTTTATTATTTCATGTAAAATCTAAGACAAAATACATTAAATGCTTATTGACATATGTATTTATTCTTCACCAGGCTGATAATATCTGCCTAATTTTAAACTTTCTTCCATTTTGTAGGTTTCAACTTATTCTATTGTAAGATACTGTTAAATCTAATAGAGGCATTGTCACTTTTACGTATAATTTTATTTTATTTCATATATTTCCTATTGGCTTTTTACATTTAAATTATGGAGCACTTCATCATATAAAAAACTTCAATTATATTTAAACAGTAAGTCTTTGGATTTTTTTGCCTTGTAATTTCCATATTACATAATAATGAGATAAACATTAATGTTTTCAGGGTACTTTAAATTTTAGATAATTACTCATTGTATTCATGTGAAATTTGTTTTTACTGCATGTGTGGGTTGGAGGACTGTTTTCACTTCTGATTCATCTTTACTCTTATCTCATCAGAGCTCATACCTCTTGTAGTTGGGGGATTGCAGTTTATAATTCCAATAAATGGGGCAAATTCAATAATAACATAATACAAATGAGTTTGAATGCAGGACAGGTCTTCAAAGCATACACAACATGGGCCTACATATGTACAACAATAATAATTTATAAGTTACTGTTTGGATGGAAAGTAAAAGTACAGAAAATTTGTTAAAGGAAATTAAAATGGAGATCATGTCTCAATAATCTCTGAGCAGACAAAATTAGTTAGGTCTCATAAGTGATCTCAACCTCGCTTGATTTGCAAATACAAACAAAACTTAAATTATTTCTTGTAGCTGCATATTGAAAAAAGAGAAATGAAGCTCAACCAGTCAGAAGTAGCCAACAACCTTATATAAATAGAAACTGTCCAACAAGGTAAACAGACAAACAAAAAACAATAAAAAAAGTTGTGCTACCACCAAATGATTTCTTTGTTTCTACATTTTTCAAATAAATACTTGCTTCTTACACTGTCAATGAAGCACTCAATATCTTTCCGTCTGATATTTTATAATTTATCAATTGCTCTTACTCAAATAAACACTTTGCAATTTCA)$ . 20CO007 ENSG00000212347.2(16696),ENSG00000215286.3(3443) ENSG00000111615.14 ./- -/- chrX:45909675 chr12:75495836 intergenic 3'UTR translocation 1 1 0 1 11 medium . . . . . . ENSG00000111615.14 . ENST00000229214.9 upstream downstream . AGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC|TTAAATTTCTCTTAAgTGTATTCCTAGAACAGTAAGCCATTGGTTTAATTGCTACTTGATGCCAGTTTCCTTGAAGATAGCCGTTAAGATAAAACATGGTTTCATTGTTAATTCTGTA(GAAAGTTACATGTTACTATTATGTTATTCTATTGGTGTATTGTTCCTTTTACTCACCACAGAGATTGTCCAAACACTTGTCATTATTGGGGCAGGCACTGCAGGTGGCTCCTCTCTTATATGGCCAAGTTGGGTAATTCCCTCTGTAAAGCAGAAGAAGGATGTCCATTAGAAGTTTTTCGGTTTTTTAAAATTGCAATTTACTATGAATCCTTAACTAAATCCAGAAGAATAGTGGAGTGAAGTACAAAGGTCCAGAGAGTTGGTAATAGAAGTGAAGACAGGAAGGCAGAAATGGAAGGCTGCTAATATTTGCATAGTTCATTCTATGTACCTGTGTCTATGCACCTGTTTTAATCTGCATCCCATTTAATTGTGACAGCTCTGAGAGGAAGTTATTCTTGTTTTACAGATGAGACAAAAGATGTAAGAGATACCTTTAATCACAATTTATACACTTCAGAGTCAGAGGAAACCTGGATTTAACTCCAGGGCTGTGCTCCCTCTCTTTACCTACCCTCTGGCCTATATGATTACTGCCATTTAAAAAACTGTCCATCTTAGAAAAGCTATGGTGACCCACATTCAATATTCTCAGTTGGTCAGCCCTCCATAATTTTCACTGGATAGGAGCCATTTGGCTGGTGCCTTCCAAAAAAATAATAAATAATGGTATGGGGGAATTTCTAAAGTACAAATTGTTTTCACATACAAGATGTGATATGAATAATAGCTGCTAATTAGTGAGCACTACCATGTGCTTGTCTTTGTTCTAAACAACCTTGAATGAAATAATCTTCACAAAAACCCTATGAGGAAGTTACTGTTGTCTATTTATACCCATTATATAGCTAGAGGCTGAGTCACAGAGTATAAGTAATTGACCAAGGTCACAGACTAGAAAGTGAAATAATATCCAAGCATTTTATATCCCCATAAATATCCTCATAGTAGTAATGGGGAGAGGGGGCACATTTATCTCAATGAACCTGCCATTGCACTAATTTTTTTTGGAACTCTGCTTTTGGAAAAAGTTCTAAACTTTTTTGTGTAATCGTACCCTTTGGCAGTCTGGTGAGGCCTATGGGCTCTTTCTCAACATAGTTTGTTGTTAAATGCATAAAATACATAGGATTATAAAGGAAACCAATTAAATTGAAATAGTTATCAAAATGTTTAAAACAAGATTTGTGATAAAGTAATATGTGCTTCTCTATTAAGATCTACCGGGGGCTATTAGTTTCAATGCAGTGATGAACACAAACTATATTTTGAGTTCTCTGCAGCAAGTGGAATGTGGTATGAAAATATCTGATATTTACAAAGATGATACTGCTAAGTCAGAGTCACGTTTATTGCTAATATGATGGTGGAGTGTTGTCTTCATTCATAATGAAAGGAAATGTTATTTTTAATAGAGGTTAGTGAAAATAAAAATAAAACTATTTTCTAATCAAAGTTTATGGTCCTCCTCTCCCCAGCACTCTACAATTACCTCCAAAGTTGAGAACTCTCACCTTAGACACACAACTTTATAACGATACCTTATTTCCAACCCCAAATCTATGTTCTTATCTCATTTTGCTCCAAATTTTAAGTTGCTTCAGAAATTTAATTAGCCCTCTGCTTACTCTACACCATGGAAAAAAGGTAATATAGTAGAAATTCTGATAGCAATTTCAAAAGATGTCCAAAATAGACATTAATCATTGGAATGTCTTTCATTGTTAATAAGCACAGTATTAAGTGGTTTAAGTTCTAGAATGATTTTAATAAAGTCATTTATGATACTTAGTTGTGCATTCCAAACTGTAAAGGAAAAGGTAAAAAATGCTACTTAAAAATAAGCTAAAAACCAAGACAGTCGGTGAGGTCTGTGGAAATGGTAGTATTCATCTTGGGAGAAACATGCTACTGGAAAGGCCTGGATTTGTCTAGATGGGAGTCATTAAGACTGTGGGACCTAAAGTATTCAGCACAATAAAGCAACAGGACATTTCAATGTTTTCCCTGGTAGCCTGAGAGAGAAGAGGGTTGGGGTTATGGGACCCAGGGGAAGACCGAAGACAAATCTTTAAAGAAAAAGATAAATATGGGTAAGGGTCCCTAAGGCAGTGACGGCCTAAGCACACTGGTACTATCTTGACTATCTTGTGGTCAAAGTTATTTCCTCTTCTGTGCTATAATCCTCTCCTCCACTAATCCACTCTGAGTAAAGATCTGTTACACACCATACCCTTGTTCATGGTGCCCAGGGGAAATGAAGAGGAGAGTATTACAGGCAACTGGAAGATTAAGCATCCCAGACCCCATTCTGAGGTATCAGAAATATTGAGGAGGATACTGGACTTCCTAAGATTATGTGGAATGGGGGCCTACAACTTTTTGTGTATAGGAAAATAATACCTCAGAGGGCAGAGGGCAAAGGGAAATGAGGACATTCCTAACTGGTCTCTCTGTTTTACCTTTTATGCTCCTCTAATCCATTTTCCATCCAGACTGATGTCCAAATTTAAAGGTCTCATCGCTCCCCTGCTTAATATACTTGAATGACTTCTTATGTAAACTTTGTCATGATCTAAAAGTTCCCGCTAGATCTGCAACTGCCTTCCTCCCCCCGTTTCATCTGTTTAGCAGACCGAGGGCACCAGTCTCTGTGGTTTAAACTTGCCAAACTTTTCTTCACGGAAGTTTTGCTGTTCTTTTCTCCACTAGACAGCTGTTCCAGAAGTTCTTATGTCTGATTCCTTCTCATTCTTCATGCCTAAGCTTAAATATAACACAAGAAGCCCTTCCCTGATTATTCTAAACAGGGGCCTTGCCTATTGATAGTTTCTATTACAGTATTATTTATAGTTCCTTAATTGCCCCATAATGATGCAGTTATTTTACTTGTATTTTTATTATCTGTTTGCCCCATAAATATTACTCTCATAAAGACAGAGACTGCCCTGTTCTCCTTTGGAGCTCAGTAAAACAAATATTTGTTGAATAAATGAATATTTGAAGTTAGTCTTTATGGAAGCATTATAACTTTGGTTGTAAGTTTTATAATTTAATATTGTTTATAACTCTGAAGATAAGTGAGTCTAAACCAGGAAAATTTACATTTATACTTTAATGAATAAAAATCATGAATACTTACAAAACATTCACTATTGCCAAGCATTATATATACCTAGTATTTTACAAAGCCTTCTCTTGTCACTTTCATAGCTACTCTAAGTGATGGGTCCTGTAACCCTGATCTATTGGAGGTTAAACTGAGATTCAGAGTTAACTTGTCCAGGGTCACACAGTAAATTAATTGTATCTTAACCATTAAAAATGTCATATGAGGCCGGGTGTAGTGGCTCATGCCTATAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACTTTAGCCCAGGAGTTGGAGATGAGCCTGGGCAATATGGCAAAACTCTGTCTCTACAAAAAAATTAACTGGGCATGGTGGCATGTGCCTGTAGTCTCAGGTACTAGGAAGGCTGAGTTGGGAGGATTGCTTGAGCCTGGGAGGTTAAGCCTGCAGTGAACCGTAAGCGAGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGAGACCCTGTCTCAAAAAAAAAAAAAAAAGTCATGAAAAGTTACCACTAACTGAATTATGGCTTTGTCTAGTTTTTTCTGGGTTTTCTTTATTTTCCAACTCTTAAGATATTAAGTCAAAGCTGTCATCTTCAGAATGACGCTTTGTCTCCTCCTTCACACCTACAGCACTCAGTCAGAGTATCGAGCATGTCTTCTGCACATTACACCAGGGAAATGGCTTTCTTTCAGCCAATCTCCAGGAATCCAAAAATTCAAAGGCAACAAATTAAAGATCATTATATATATTGCAAATGGTTAAAAACCTTTAAAATATAAAAACTTTTATAAATAAGAAAATCTAGTAGAAAAATGGTCAGCCCACATGATTCACAGAAAAAGGAATATAAATAGACAATTATGTGAAGAAATTTATAATTACTAGTAATCACAGAGATGCAAAAGAAAGCAAATGAAATGCCATTTCCATCAAATTAGAAAATACTAAGAAATTATAATACCTAGTACTGATGGTGAAATACAAATTGATATAATGGTGGAATGTAATTTGGCAATATGTACTTAAAACAAAAATGGTCACAGTCTTTACGTGCTAGTATCTCAAGGAATTATAGGGAAATAGAAGTGACTGAAGATACATATATGAGGTTGTTCATCATATATTAAATGAAAATATAGTGAACAATCTAAATTCTTCAACAGGATGGTGGTACCATCAAGAGCATGGACTCTGGAGCTAGACAGCCAGATCAAAGTCCATCAGTGATAGTCACTAACTGTAGAACTTTGGGCAGGTTGCTGACCCGTGTGTGCCTTGCTGTTCTCATTTGCCAAACAGGGGTAGTAATAGGAGCCATCTCATAAACTTCTGGTGAAGATTAAGTTAATATATGTGAAGCACTTTAACAGTGCTGAGAGCATTGTAAGCATTATATAAACAATCTATCATTTTTATGATTAAAATCACTTAAAATTTTGAAAAGGAAAATTTTTCACAGCATAATTTTAAGTGAAAAATAGAAAATGTATATTTTCAGTATGATCAGATTTCTAAATATGTGTATGACACAAGCACACATATGTAAGTTTAAAGAAAGTAGGAGGAAGGTGTTTGCCCTGTTTCCCAAAGTGGGAACTATATCTGTTTTAAAAACAACTGTCAAAAGTAAATGAAATAGGTTATATAAGTTGAGGAATCTGTTTTGCTTTGAAAATTGTGTAAAATTGCCAAGTTTCTAATAAACCAATAAATATAA)$ . 21CO006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 22 15 0 243 81 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) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 21CO006 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 19 28 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) AGCCGGGCTGGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACT(G___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 21CO006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 10 0 28 130 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2),mismatches(2) AAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC????GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG(___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 21CO006 ENSG00000112159.12 ENSG00000269964.3(469648),ENSG00000230309.1(207791) -/- ./+ chr6:89738326 chr6:78396676 CDS/splice-site intergenic inversion 1 13 0 18 30 high out-of-frame . AAA_domain_(dynein-related_subfamily)(100%)| . . ENSG00000112159.12 . ENST00000369393.8 . upstream upstream duplicates(2) ^(GATGACGTCAAACGCCGTGTGCTCACCCACGTGTGGTGCCCCTCTCCCGGTGTAGGCGCTGGAGCTGAGGACGCCTTTCCTGCGGGCGTAGTTGCTGGCTGCTCGGGCACTGGGACCTCGGCGGCTTGGGGACGCTGGCCGCGAAGTAGGGAGCGCAGGTGGCCGCTCGGGGTGAGGGCCCTGGGTCATGGAGCACTTCTTGCTGGAGGTGGCAGCCGCGCCGCTGCGGTTAATCGCAGCCAAGAACGAGAAGAGCCGCAGTGAGTTGGGCAGGTTCTTGGCCAAGCAG___GTGTGGACACCTCAAGATCGCCAGTGTGTCCTGAGTACCTTAGCACAGTTGCTTTTGGATAAGGACTGTACTGTGCTGGTTGGTCGCCAGCTTCGCCCTCTCCTTTTGGATTTGCTGGAAAGGAATGCCGAAGCCATTAAAGCTGGAGGCCAAATCAACCATGATCTGCATGAACGGCTATGTGTGTCGATGAGCAAACTCATTGGTAACCATCCTGATGTCCTCCC___GTTTGCCCTGAGATATTTCAAGGACACATCCCCAGTCTTTCAAAGACTTTTCCTAGAGAGTTCAGATGCTAATCCAGTACGCTATGGACGTAGGAGGATGAAGCTCCGGGACCTAATGGAAGCAGCCTTCAAGTTTCTGCAGCAGGAGCAGTCTGTGTTCCGGGAGCTCTGGGACTGGAGTGTGTGTGTCCCTCTCCTCAGAAGCCATGACACCTTGGTTCGCTG___GTATACAGCCAATTGTCTTGCTTTGGTTACCTGTATGAATGAAGAGCACAAGTTATCATTTCTTAAGAAGATATTTAATAGTGATGAATTGATCCATTTCAGGTTGAG___GTTATTAGAAGAGGCCCAGTTGCAGGACTTGGAGAAGGCCTTGGTTTTGGCCAATCCAGAAGTCTCCCTTTGGCGTAAGCAGAAGGAGCTGCAGTACTTACAGGGACATCTTGTTTCGTCTGACCTCTCCCCTAGGGTGACAGCTGTTTGTGGTGTGGTGCTGCCTGGGCAGCTGCCAGCCCCTGGAGAGCTG___GGTGGTAATAGGAGTTCTTCACGTGAACAGGAGCTGGCCCTTAGGTCTTATGTGCTGGTTGAGTCTGTCTGCAAAAGTCTTCAGACCCTGGCTATGGCGGTTGCTTCTCAGAATGCTGTGTTGTTGGAAGGACCAATAGGATGTGGCAAAACTTCCTTAGTTGAATATTTAGCTGCAGTGACAGGTAGAACAAAGCCTCCTCAGCTTCTCAAAGTCCAGCTTGGAGATCAGACTGACAGTAAG___ATGCTTTTGGGGATGTATCGCTGCACAGATGTTCCTGGAGAGTTTGTGTGGCAGCCTGGCACCCTGACACAGGCAGCCACAATGGGCCACTGGATCCTTCTGGAGGATATTGACTATGCCCCCTTAGACGTG___GTTTCTGTGCTGATCCCTCTCTTGGAGAATGGAGAGCTCTTGATTCCTGGCCGAGGTGACTGTCTGAAAGTGGCACCTGGATTTCAGTTTTTTGCAACCAGGAG___ACTCTTGAGCTGTGGAGGAAATTGGTATCGACCGCTAAACAGTCATGCTACTTTGCTAGACAAATATTGGACCAAAATTCACCTGGATAACCTGGATAAGAGAGAACTGAATGAG___GTTCTTCAGAGCAGATATCCTAGCCTATTGGCAGTGGTTGATCACCTGCTTGACATTTATATCCAACTTACTGGAGAGAAACATCACTCTTGGAGTGATAGTTCTGTTGGATGTGAACAGGCACCTGAAGAAGTTTCAGAAGCCAGAAGAGAAAACAAAAGACCAACCCTTGAGGGAAGAGAATTATCTCTAAG___GGATCTGCTGAATTGGTGTAATAGGATTGCCCATAGCTTTGACAGTTCATCTTTATCAGCATCATTAAATATTTTTCAAGAG___GCTCTAGACTGTTTCACAGCAATGCTTTCTGAGCATACAAGCAAACTGAAAATGGCAGAAGTTATTGGAAGCAAATTGAACATTTCTAGAAAAAAG___GCTGAATTCTTTTGTCAACTTTATAAACCAGAAATTGTGATCAATGAGCTAGATTTGCAAGTGGGTCGAGTGCGGCTTCTACGGAAACAAAGTGAGGCTGTTCACCTACAGAG___GGAGAAGTTCACTTTCGCTGCTACACGGCCGTCCTCTGTTCTCATCGAGCAGCTTGCAGTGTGTGTCAGCAAAGGGGAGCCTGTGTTGCTGGTGGGAGAGACCGGGACTGGCAAAACCTCTACCATCCAATACTTGGCTCACATTACAG___GCCACCGTTTGAGGGTTGTCAATATGAATCAACAAAGTGATACTGCAGACTTGCTTGGAGG___TTATAAACCGGTGGACCATAAGCTTATTTGGCTACCCTTACGGGAGGCATTTGAGGAACTCTTTGCTCAGACATTTTCCAAGAAACAAAACTTTACGTTCTTGGGGCACATTCAGACCTGTTACAGACAGAAACGGTGGCATGATCTCCTGAGACTAATGCAGCATGTACACAAGTCTGCTGTTAACAAGGATGGAAAAGACAGTGAAACTG___GGTTACTCATAAAAGAGAAATGGGAAGCATTTGGTCTTAGACTCAACCATGCCCAACAACAGATGAAAATGACTGAAAATACCTTATTGTTCGCATTTGTAGAG___GGTACATTAGCTCAGGCTGTAAAGAAAGGAGAGTGGATCTTGTTGGATGAGATTAACTTGGCTGCTCCAGAAATACTAGAATGTCTGAGTGGTTTGCTTGAAGGATCTTCTGGATCCCTGGTGTTGCTGGATCGAGGAGACACAG___AGCCACTGGTTCGGCATCCTGACTTCCGTTTATTTGCCTGTATGAATCCAGCAACTGATGTAGGCAAAAGAAATCTCCCACCAGGAATAAGAAACAG___GTTCACAGAACTTTATGTAGAAGAATTAGAAAGCAAAGAAGACTTACAGGTTCTTATTGTAGATTATCTGAAAGGATTGAGTGTGAACAAGAATACAGTGCAAGGAATCATAAA___CTTCTACACAGCTTTGCGGAAAGAGTCTGGGACCAAACTGGTGGATGGCACTGGCCATAGACCTCACTACAGCCTTCGGACTCTGTGCCGGGCCCTGCGATTTGCAGCCTCCAATCCATGTGGCAACATTCAGCGCTCACTCTATGAG___GGTTTTTGTTTGGGTTTCTTAACACAGCTTGACAGGGCATCACACCCAATAGTTCAGAAGCTCATCTGTCAACACATTGTCCCTGGCAATGTCAAGAGTCTGCTGAAGCAG___CCTATTCCAGAGCCAAAAGGAGGTCGGCTTATCCAGGTTGAAGGCTACTGGATTGCGGTGGGAGACAAGGAGCCTACAATAGATGAGACGTACATTCTGACATCTTCTGTGAAGCTGAACCTGAGAGATATAGTCCGAGTTGTCTCTGCAGG___AACCTATCCAGTGCTGATTCAGGGAGAGACATCAGTTGGTAAAACAAGCCTGATCCAGTGGCTGGCTGCAGCTACTGGCAACCACTGTGTGCGTATTAATAATCACGAACACACGGATATTCAGGAGTACATTGGTTGTTACACGTCTGACTCCTCAGGGAAGCTTGTCTTTAAGGAAG___GTGTTCTTATTGATGCCATGAGAAAAGGCTATTGGATTATTTTAGATGAATTAAATTTGGCCCCTACTGATGTGTTAGAGGCGCTGAATAGGCTGTTGGATGATAACCGTGAATTGCTAGTAACAGAAACACAGGAAGTTGTTAAAGCACACCCTCGGTTTATGCTTTTTGCCACCCAAAATCCCCCAGGACTTTATGGAGGCAGAAAG___GTCCTTTCTAGAGCCTTCAGGAATCGGTTTGTGGAATTGCACTTTGATGAGTTACCTAGCTCCGAGTTGGAAACAATCTTGCACAAGCGGTGTAGTTTGCCACCCTCCTATTGCAGCAAGTTGGTTAAAGTCATGCTGGATCTTCAG___TCCTATCGCAGAAGTTCTTCAGTGTTTGCTGGAAAGCAGGGCTTCATCACCCTTCGTGATCTGTTCCGATGGGCTGAAAGATACAGATTGGCTGAGCCGACCGAGAAGGAGTATGACTGGCTACAGCATTTAGCCAATGATG___GTTATATGCTTCTGGCAGGTCGAGTCAGGAAGCAGGAGGAAATTGATGTGATTCAAGAAGTCCTTGAGAAACATTTCAAGAAAAAATTGTGTCCTCAATCTCTTTTCTCCAAAGAAAATGTTCTAAAATTGCTGG___GTAAATTGTCTACTCAGATATCCACATTGGAGTGTAACTTTGGCCATATCGTGTGGACTGAGGGCATGCGGAGACTCGCGATGCTAGTGGGAAGGGCATTGGAATTTGGTGAACCTGTGCTGCTGGTTGGAGACACTGG___GTGTGGGAAAACTACTATCTGTCAGGTATTTGCAGCCTTGGCAAATCAGAAATTATACTCTGTCAGCTGCCACTTACACATGGAGACATCAGACTTCCTGGGTGGCCTGCGGCCAGTGAGACAAAAGCCAAACGACAAG___GAAGAAATTGACACATCAAGACTCTTTGAGTGGCATGATGGGCCTCTGGTTCAGGCCATGAAGGAGGACGGCTTTTTCCTCTTGGATGAGATCTCATTGGCCGATGACTCTGTCTTGGAAAGACTCAACAG___TGTCCTTGAAGTAGAAAAGTCTCTGGTATTAGCTGAAAAAGGCAGTCCAGAGGACAAGGATAGTGAAATAGAGCTGTTGACTGCTGGGAAAAAATTTCGTATTCTAGCAACCATGAACCCTGGGGGTGA)CTTTGGAAAAAAGGAG___CTGTCTCCTGCCTTAAGAAACCGGTTTACAGAAATATGGTGCCCTCAAAGCACAAGCCGTGAAGATTTAATTgAGATCATCAGTCATAATCTTCGTCCAGGATTGTGTCTGGGCAGAATAGATCCTAAAG|GCACAGAAAATGTGGCACATGAAAGCAGCAGAGCTTTGAATGATATGAAAAAGGCTCCAATTCTAACTTCAGTCATCAACTGAGTAATGTTGACCAACTACTTACCCACTCTGACTTCAGGCTACTCAAATATAATATGGAGGTGACATCTCCTGTCAGGAAACTTGTCTTGCAGATTAAATAAAATAACATTTGTATAG MEHFLLEVAAAPLRLIAAKNEKSRSELGRFLAKQVWTPQDRQCVLSTLAQLLLDKDCTVLVGRQLRPLLLDLLERNAEAIKAGGQINHDLHERLCVSMSKLIGNHPDVLPFALRYFKDTSPVFQRLFLESSDANPVRYGRRRMKLRDLMEAAFKFLQQEQSVFRELWDWSVCVPLLRSHDTLVRWYTANCLALVTCMNEEHKLSFLKKIFNSDELIHFRLRLLEEAQLQDLEKALVLANPEVSLWRKQKELQYLQGHLVSSDLSPRVTAVCGVVLPGQLPAPGELGGNRSSSREQELALRSYVLVESVCKSLQTLAMAVASQNAVLLEGPIGCGKTSLVEYLAAVTGRTKPPQLLKVQLGDQTDSKMLLGMYRCTDVPGEFVWQPGTLTQAATMGHWILLEDIDYAPLDVVSVLIPLLENGELLIPGRGDCLKVAPGFQFFATRRLLSCGGNWYRPLNSHATLLDKYWTKIHLDNLDKRELNEVLQSRYPSLLAVVDHLLDIYIQLTGEKHHSWSDSSVGCEQAPEEVSEARRENKRPTLEGRELSLRDLLNWCNRIAHSFDSSSLSASLNIFQEALDCFTAMLSEHTSKLKMAEVIGSKLNISRKKAEFFCQLYKPEIVINELDLQVGRVRLLRKQSEAVHLQREKFTFAATRPSSVLIEQLAVCVSKGEPVLLVGETGTGKTSTIQYLAHITGHRLRVVNMNQQSDTADLLGGYKPVDHKLIWLPLREAFEELFAQTFSKKQNFTFLGHIQTCYRQKRWHDLLRLMQHVHKSAVNKDGKDSETGLLIKEKWEAFGLRLNHAQQQMKMTENTLLFAFVEGTLAQAVKKGEWILLDEINLAAPEILECLSGLLEGSSGSLVLLDRGDTEPLVRHPDFRLFACMNPATDVGKRNLPPGIRNRFTELYVEELESKEDLQVLIVDYLKGLSVNKNTVQGIINFYTALRKESGTKLVDGTGHRPHYSLRTLCRALRFAASNPCGNIQRSLYEGFCLGFLTQLDRASHPIVQKLICQHIVPGNVKSLLKQPIPEPKGGRLIQVEGYWIAVGDKEPTIDETYILTSSVKLNLRDIVRVVSAGTYPVLIQGETSVGKTSLIQWLAAATGNHCVRINNHEHTDIQEYIGCYTSDSSGKLVFKEGVLIDAMRKGYWIILDELNLAPTDVLEALNRLLDDNRELLVTETQEVVKAHPRFMLFATQNPPGLYGGRKVLSRAFRNRFVELHFDELPSSELETILHKRCSLPPSYCSKLVKVMLDLQSYRRSSSVFAGKQGFITLRDLFRWAERYRLAEPTEKEYDWLQHLANDGYMLLAGRVRKQEEIDVIQEVLEKHFKKKLCPQSLFSKENVLKLLGKLSTQISTLECNFGHIVWTEGMRRLAMLVGRALEFGEPVLLVGDTGCGKTTICQVFAALANQKLYSVSCHLHMETSDFLGGLRPVRQKPNDKEEIDTSRLFEWHDGPLVQAMKEDGFFLLDEISLADDSVLERLNSVLEVEKSLVLAEKGSPEDKDSEIELLTAGKKFRILATMNPGGDFGKKELSPALRNRFTEIWCPQSTSREDLIeIISHNLRPGLCLGRIDPK|gtenvahessralndmkkapiltsvin* 21CO006 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 8 5 0 31 16 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2),mismappers(1) GGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAG(CTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 21CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 3 0 15 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),low_entropy(1),mismappers(1),mismatches(1) CCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCtCGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTcCCC(AAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 21CO006 ENSG00000058056.9 ENSG00000171109.19 +/+ +/+ chr3:179730709 chr3:179385569 CDS/splice-site CDS/splice-site duplication 5 1 0 15 203 high in-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%),Zn-finger_in_ubiquitin-hydrolases_and_other_protein(100%)|fzo-like_conserved_region(100%) . . ENSG00000058056.9 ENSG00000171109.19 ENST00000263966.8 ENST00000471841.6 downstream upstream . ^(AGTCCGCCCCAAGCCCGCGGTGCCCGCTCCCGCCCCGCAGCCCGCTCTCCCCGCCCGCCCCGGCTCGGCCGGCTGCCGTTGCCCGCGCAGCCCGCCCGTCAGCCCGCTCGCTGGCGCCGCCGCCGCCGGCAGACCCCGCGCTCCGGCTCCGGCTCGGCTCGCTCGGCTCCGGTGCGCGCCGAGGCCATGCAGCGCCGGGGCGCCCTGTTCGGCATGCCGGGCGGCAGCGGAGGCAGGAAGATGGCTGCAGGAGACATCGGCGAGCTGCTAGTGCCCCACATGCCCACGATCCGCGTGCCCAGGTCCGGCGACAGGGTCTACAAGAACGAGTGCGCCTTCTCCTACGACTCTCCC___AATTCTGAAGGTGGACTCTATGTATGCATGAATACATTTTTGGCCTTTGGAAGGGAACATGTTGAAAGACATTTTCGAAAAACTGGACAGAGTGTATACATGCACCTGAAAAGACATGTGCGAGAG___AAGGTAAGAGGGGCGTCTGGTGGAGCGTTACCAAAAAGGAGGAATTCCAAGATTTTTTTAG___ATCTAGATACTGATGACGATTTAAATAGCGACGATTATGAATATGAAGATGAAGCCAAACTTGTTATATTCCCAGATCACTATGAAATAGCACTACCAAATATTGAGGAGTTACCAGCCCTG___GTAACAATTGCTTGTGATGCAGTTCTCAGCTCAAAATCTCCATACAGAAAGCAGGACCCAGACACGTGGGAAAATGAATTGCCAGTATCTAAATATGCCAACAACCTCACCCAGCTGGACAATGGAGTCAGGATTCCTCCAAG___TGGTTGGAAGTGTGCCAGATGCGACCTGCGAGAAAACCTCTGGTTGAATCTGACTGACGGCTCTGTCCTGTGTGGAAAGTGGTTCTTTGACAGCTCTGGGGGCAACGGGCATGCGCTGGAGCATTACAGAGACATGGGCTACCCACTAGCCGTGAAACTGGGAACCATCACTCCTGACGGGGCAG___ATGTTTATTCTTTTCAAGAAGAAGAACCTGTTTTGGATCCTCATTTGGCCAAGCACTTAGCGCATTTTGGAATTGATATGCTTCATATGCATGGG___ACAGAGAATGGGCTCCAGGACAATGACATCAAGCTGAGGGTCAGTGAGTGGGAAGTGATCCAGGAGTCGGGCACGAAACTGAAGCCAATGTATGGTCCTGGCTACACGGGTCTGAAGAACCTGGGCAACAGCTGCTATCT)CAGCTCTGTCATGCAGGCCATCTTCAGCATCCCAGAATTCCAGAGAGC___GTATGTAGGAAACCTTCCCAGAATATTTGACTACTCGCCTTTAGATCCAACACAAGATTTCAACACACAGAT___GACTAAGTTAGGACATGGCCTTCTCTCAGGCCAGTATTCAAAGCCTCCGGTGAAATCTGAACTCATTGAACAGGTGATGAAGGAGGAGCACAAG|CTCCCTAGATCTTTAGCTTCTACTCCCACTGCTCCTACCACTCCAGCAACGCCAGATAATGCATCACAGGAAGAACT(CATGATTACATTAGTAACAGGATTGGCGTCCGTTACATCTAGAACTTCTATGGGCATCATTATTGTTGGAGGAGTG___ATTTGGAAAACTATAGGCTGGAAACTCCTATCTGTTTCATTAACTATGTATGGAGCTTTGTATCTTTATGAAAGACTGAGCTGGACCACCCATGCCAAGGAGCGAGCCTTTAAACAGCAGTTTGTAAACTATGCAACTGAAAAACTGAGGATGATTGTTAGCTCCACGAGTGCAAACTGCAGTCACCAAGTAAAACA___ACAAATAGCTACCACTTTTGCTCGCCTGTGCCAACAAGTTGATATTACTCAAAAACAGCTGGAAGAAGAAATTGCTAGATTACCCAAAGAAATAGATCAGTTGGAGAAAATACAAAACAATTCAAAGCTCTTAAG___AAATAAAGCTGTTCAACTTGAAAATGAGCTGGAGAATTTTACTAAGCAGTTTCTACCTTCAAGCAATGAAGAATCCTAACAATAGAGATTGCTTTGGTGACCATGATAGGAGGAAACGAAACTTGTAAGATTGGAACAGTTGTTATTTTTATGAAATTACTTTAAATATGAATTGTACTAACTGTACCTAAATAGCAAAGCCCTGTGTAGATTCTGGTAATGATCTGTCTCAGGGTATGTGTATTTTTGAAGAGTGTTATGTCCTTAGTTTTAATTTTGAGTAAAGAAAAGGCTAAAATCATGAATTAGTTACAAGCAACAGTACCAACTTATGTGACCCCTGAGGGGTGGGGCTGTGAGCTCTTAATTTGTTTTTGATTCTGAAAAACTCTGCTTCCTGGCATCCAGGAGTTAGAGATTGAGCCTTTCATCTTCTTTCTCAAAACTAGTTTTTGATGCTTTCTTTCATGGGAATAGTCACTTTTTTATTTAGTAAATCGCATTGCTGGAACCACCAAGGAGTGTGGAATGTCCTTGAGTGTATTATTTATGCAAGTCACAGTCACGTTGCCATCATGGCAGCTATGTGAAACACTAATAAATGTGTTTTTACTTTTTATTCCCGTTAAAACTGATGTAAAACAGGATAAAGGCTTGTTATAGTCACTTATAAGTATCTGGGTCTAAGTAATTTCCTTAGATGTTTCTAAAGAAACATTTTCAGCTTTGCTCCCATTATGATTCCAATAAGGAACGCTTTCCTAGTGCAATTTTAGGAGTAAAGTTTGAAGAGATAAAAATAGCCAAAGATAGGAGACGTCTGAATTTTGAATGATAAACAGTGATGTTTTAAAAAAGCTGTTGTTCTTCAGGAGGCATTTGCCTAGGATATTGCTGGATTATACCCCATTGGAGGCTTTTAATTTTATTTGTATGAATTTTCCAGGATTTCATTAAAAATTATTATTGTATTTTTTACCTTAATGAAAGATTTTGGGTTCAAATATCTTTCTATATTAAAAGCTGATTGAGTCTGTACATATGTAAATTATGCCTAGTGGAGGTTCTGTTGACTTTCTTCCCCACTGTGGAAGAGGCCAGTTTTGCCTCCATTTGCACATTCATTTCAGTTATTTCTGATCCATAAATATAACATTTACAAAATTCTTCCTTGAGCTGGTGGAAATGCCTCACCAGTTTCCTCTTTAATGAATCAAATAAAATCTTTAACTGATGTTAAAAAAAATTGATTGAAACTCAGATGGAATGGAAATGTACAAAAATGACACCATTCTAGGAATTTGCTAGACAAAATGTAGGACTACCAGATCAGTATCTCCTAGACACTTGTTAGAAATGCACAATCCCGGGGAACGCAGTACATTTGGCCACATGTAGTTTATGTTTCCTTTTCATGGGAGGGATAAAATTTAAAGCTTTTTTTTTCTTTGAATACAGTCCTTCCTTTTCTATGCCTTTTAAGGCTTCTAGATGCTATTCAGCCTTTTTACAGCAGGTGCAACTCTATTTTTCAAGGTATCTTAGAAGATAACACTAGGCCATTGAAGCCTTTCAAAAATATATTTTTATGCAAATTGACACGAGTGCAGTATACTAATGCAAATTAATTTTGGTGTTTAGCTTTTATTGCTCATTTATAACCCAAGAAATGGTACAGACCACAGTAAGTGGGATTAGGTAACAACTACAACATGGAAAAACAGTGTCTAAGATCACGTACTGCTAATTTAGGTTACAAAACTCAAGGCTGTAACCTTTATATGAAAGTACTTAAGCTTGAAAGTTCATAATAGTTTGGTATCACCTCATTAGTATAGTACAGTGGTTCTCAAAGTTTGGTCCTGGGTCATCGACATTACTTCTTTTTCTTTCTGAGACAGGGTCTCAGTCTGTCACCCAGGATGGAGTGCAGTGGCGTGATCATGGCTCACTGCAGCCTCAACCTCTCGGGTTCAGGTGATCCTCCCACATCAGCCTCCTGGGTGGCTGGGACTACAGGCACACGCCACCATGCCTGGCTAGTTTTTGTAAAGACGAGGTTTCCCCATGTTGTGCAGGCTGGTCTTGAACTCACAGACTCAAGTGATCCTTTTACCTCAGCCTCCCAAACTGTTGGGATAACAGGTGTAAGCCACCACACACAGCTATAATCAACCTTCAAACTTATAAAAAGTGTGGATCCTTGGGTCTGAACCCAGACCTATGGAGTCAGACAGTAGGTTTGAGGCCCAGCAATCTATGGTTTAACAAGCCATCCAGGTGTTTCTGATGCACAGTGAAATTGGGGTACCACTGGTATTAGGTTTGGTATGGCAACTTTTTCATCACTTGTTTTATGTAGTTGTCTGATCAATTGTGAAAACATAATGAATGTTGGAAATGGAACAGTAAAATAACGAAAGCCAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAGCCAACTCTTATGCCTAGAAATATGTGCACCTATGACCAAGCCCATGAATTATACAGGAATTATGTAATTATGAGTGATGTACTTCAAAGTTATTGCACATACACTTGTTTACTTTGTATGTTTGCAGGATTAAACTTTGTATAATCTTTTTACAAAAATTTTTTTTCAGTATGCAAGCTTGCAAGATGAAAATAAAACCTGTTTGCCTGATAGTTGA)$ MQRRGALFGMPGGSGGRKMAAGDIGELLVPHMPTIRVPRSGDRVYKNECAFSYDSPNSEGGLYVCMNTFLAFGREHVERHFRKTGQSVYMHLKRHVREKVRGASGGALPKRRNSKIFLDLDTDDDLNSDDYEYEDEAKLVIFPDHYEIALPNIEELPALVTIACDAVLSSKSPYRKQDPDTWENELPVSKYANNLTQLDNGVRIPPSGWKCARCDLRENLWLNLTDGSVLCGKWFFDSSGGNGHALEHYRDMGYPLAVKLGTITPDGADVYSFQEEEPVLDPHLAKHLAHFGIDMLHMHGTENGLQDNDIKLRVSEWEVIQESGTKLKPMYGPGYTGLKNLGNSCYLSSVMQAIFSIPEFQRAYVGNLPRIFDYSPLDPTQDFNTQMTKLGHGLLSGQYSKPPVKSELIEQVMKEEHK|LPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGIIIVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSSTSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAVQLENELENFTKQFLPSSNEES* 21CO006 ENSG00000073921.18 ENSG00000235547.3(14355),ENSG00000165323.15(1245) -/- ./- chr11:86068651 chr11:92350851 CDS/splice-site intergenic duplication 0 2 1 267 7 high out-of-frame . ANTH_domain(100%)| . . ENSG00000073921.18 . ENST00000393346.8 . upstream downstream . ^(GCCATTTTCCTGCAGCTGCCTGTTCCTCTTACCCTGCCCGGCTCCAGCTGACCCGGGAAGGGGTGGGCTGAACTGAGGCGGGGGCAAGGGAGTGCCCGACATCTTGTCCGACTCCGCGGGTGACACGAGCCGGTTCTCTCTGGACTGGTGGCAGCGCGCGGCCCCGAACCGCGCCCCAGGCCGGCAGGCGGGGAAGGAGCCGGTGGGGGTAGGGGGTGCGGTGGGGGGTGGGGACCCTCCGGCTCTTGGGGGTCCCAGTCCCCGCCGGCTGCTGAGCGGGTGGGGTGGTGGAGG)AGCTGCAGAGATGTCCGGCCAGAGCCTGACGGACCGAATCACTGCCGCCCAGCACAGTGTCACCGGCTCTGCCGTATCCAAGACAGTATGCAAGGCCACGACCCACGAGATCATGGGGCCCAAGAAAAAGCACCTGGACT|GGAACGTGAAGATGAGAGGAGATGGAAAATGAATTTCTTTGCAG___ACGCATTTATTCTGCCAACAAAATCAAGACCCCAGAAGACTAATCTTCTCAAGTCAACATAGGGCCACCTCTCCAGAGGCTCGCATAATTTTCTCTGCTT MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLD|wnvkmrgdgk* 21CO006 ENSG00000132849.20 ENSG00000132849.20 +/+ +/+ chr1:62114158 chr1:62114129 CDS CDS duplication 13 7 0 54 52 medium in-frame . L27_2(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)|PDZ_domain_(Also_known_as_DHR_or_GLGF)(86%) . . ENSG00000132849.20 ENSG00000132849.20 ENST00000642238.1 ENST00000642238.1 downstream upstream duplicates(2) ^(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___GCTGTCAGCCAGATGAAACAGCAAAAATATCCAACAAAAGTCTCCTTCAGTTCACAAGAGATACCATTAGCACCAGCTTCATCATACCATTCAACAGATGCAGACTTCACAGGCTATG___GTGGTTTCCAGGCTCCTCTGTCAGTGGACCCCGCAACGTGTC)CCATTGTCCCTGGACAGGAAATGATTATAGAAATATCCAAGGGACGTTCAGGGCTTGGTCTCAGCATTGTGGGAGGAAAAGACACACCCTTG___AATGCTATAGTTATCCATGAAGTCTATGAAGAAGGGGCAGCAGCCAGAGATGGAAGACTTTGGGCTGGTGACCAGATATTAGAG___GTTAATGGGGTTGACCTGAGGAACTCCAGCCACGAAGAAGCCATCACAGCCCTGAGGCAGACCCCCCAGAAGGTGCGGCTGGTGGTGTATAGAGATGAaGCACACT|GGCTGGTGGTGTATAGAGATGAaGCACACTACCGGGATGAGGAGAACTTGGAGATTTTCCCTGTGGATCTGCAGAAGAAAGCTGGCCGGGGCCTGGGCCTGAGCATtGTTGGGAAACG___AAATGGAAGCGGAGTGTTTATTTCTGAC(ATCGTGAAAGGCGGAGCCGCAGACCTGGATGGGAGATTGATTCAGGGAGATCAGATCTTATCTGTGAATGGGGAGGACATGAGAAATGCCTCACAGGAGACAGTGGCCACCATCCTCAAG___TGTGCACAGGGACTTGTGCAGCTAGAGATTGGAAGACTCCGAGCTGGTTCCTGGACCTCCGCAAGGACGACATCACAGAACAGTCAG___GGTAGTCAGCAGAGTGCACACAGCAGCTGTCATCCCTCCTTCGCTCCTGTCATCACTGGCCTGCAAAACCTGGTTGGCACAAAAAGAGTTTCAGATCCTTCCCAGAAAAATTCAG___GCACAGATATGGAACCAAGGACTGTTGAGATAAACAGG___GAGCTCAGTGATGCCCTTGGAATCAGTATTGCTGGAGGAAGAGGAAGTCCCTTAGGAGATATCCCCGTATTTATTGCCATGATTCAGGCTAGCGGAGTGGCCGCACGGACACAGAAGCTTAAA___GTTGGAGATCGGATTGTCAGCATTAACGGGCAACCTTTGGATGGGCTGTCTCACGCGGATGTGGTTAATCTGCTGAAGAACGCCTACGGGCGCATTATCCTGCAG___GTTGTAGCAGATACCAATATAAGCGCCATAGCAGCTCAGCTTGAAAACATGTCTACAGGCTACCACCTTGGTTCGCCCACTGCTGAACACCATCCAGAAGACACAGA___AACACCTCCACCTAAGATTATTACTTTGGAGAAAGGCTCTGAAGGCTTGGGGTTTAGTATTGTAGGGGGTTATGGAAGTCCCCATGGAGACCTGCCAATTTATGTCAAGACTGTATTTGCAAAG___GGAGCAGCTGCAGATGACGGCCGATTAAAACGAGGGGATCAGATTTTAGCTGTTAATGGCGAGACCCTGGAAGGTGTTACTCATGAGCAAGCAGTCGCCATTCTAAAACACCAGAGAGGGACTGTAACCTTAACTGTGCTGTCATGAGCCTCGGGCCTGATCACAAGATAGATGTTGTTGTTTAGAATATCCACAGGCAGATGAAGTTCTGAGTGGGTATGAAAAGCACCCTCAACTAAAATGCACCTTCATTCTTATTTCTTGCCCTCTCTGCTCAGGAGAAATGGCTGAGGTTTCATGTGAATTTCCCAAATCAACAATCATCTCCTAATGTTTCCCAGTTCCTGTCACCTGTTGGCGAGGTTGATTTCTAAAACTTAAATGAGTCTACCTGTTTTGCATTTAATTTCAGTGTTCCGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAACCTCGGCCTCCCAGGTTGGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACACTGGGTTTATTTTTGTTTTTTTAGTAGAGATGGAGCTTCCCCATGTGGGCCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACTGCGCCCAGCCCAGTATTCTGATTTTAACCAACTGGTTCTGATTATATTTACCAAAACTGGAGTTAACTTCTCTTTCCTTATACTCTTCTCTCCCTATCCCCTACTCACACCGAGGCTTAACAGCAACCTCAGATCTCATCCAATGGACAGAAACAAATGTTAAGCAACTTGTCATCTCACTCATGATTTACTTATGCTAATTGTCTCTTCAAGTAAGCAAGAAAACATTAGCAGTGTAATTAATTTACCAGTGATCCCCAAGATGAAATACCAGATTCTCCTATGGGAAATTACTGTGCTGTCTTCTGTATGACTTATGGTCAAATAAGTCTCAAATTCATTTCTCTGGATAGATCTTTATATGCTAGTCATTGGTGATTTTGATGAGTCAATTTACAGACTGTAATCTTCTAAAAATTCTGAAAGACTAATTGTTTTCTGTGCCATATAAATGCATACCACTGAGCAAATGAACCTTATTCTCAGCAGGAACAACTAGCATACATGTTCTGAATTCTAACAGTGCTAAATTACATTCAAGTCCAGGAAGATCACCTGGAATTAATGGCATTTCAGTTGGCAGGCATCATTCCCACCCCTCGGTCTTAGGAAAAGGAGGTAGAAGCCCCAGAACCACACGGCAGAGATCAGCAAGTTTTGTCTCAAGTCAGACAAGGTCTAGGTGGCCTTGGCCTTATGCAAAGTGGGTGACATATTTGATTATATTTCCCTTTACCTCCATAGTAGTCAGGCCAGCAGCATGGACTGCAAGAACCTAAGGGAGCAACATACTTAGCTGCAAAGTGAGCAAATGAATTGAGCCTAGGAATATGTGATGAAAATGCATGGCTGATGTTTCCTGATCTCCAAGGAGACTCCCATTTGCTGAAGTTTTGCATGCTAAGAAATCAACTACAGCAGAAAATACAAGAATACCTTTAAGTTGATTATTGGCAATCTTATTCATATATTAGCAAGAAAAAGGGAGAGATGCTTACTGGTGGATGCTATAGAGTCCTCTGTTTTTAAAAGTACCATGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGCGAATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCAGGCGCCTGTAATCCCAGCTACTCCGGAGGTTGAAGCAGGAAAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGTTCGTGCCACTCCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAAGAAAAAAAACCATGAAGGATGAGTACTAGAGTCAGTAATAGAAGTAGTTCAGCATTATTTAACTACAACACAATGCTGCAAATATTTCACAGTAATTATCAAAATTTAATGGGCTCTAATTTAAAATGTTATTTAATAAGTATAGATTTTAATTGAGAATTATCTTTGAGTAGATGTAATCACAAAGTGCATTAACTCTTGTTGGAATATTTTATGGCTATTCCAAAGTATAGAGTGCCTAAATTTTGTGTTGAAAATGTCTTTCATGACGGTATTAAGTTTTCTGAAATTACACATGGCTTTTAAAATTTCTAATGTATCCAAGATGTGCAATGTTGTTAGGATCTCATTCTTCAGTGCATGAAAAGCTACTACCCTCAGAACATTTTGTGTTAATTGTACCTGCAAGAACACCTCAGGCAAGCCAAGAAGAAATGAAACCCAAATAAAACTTGAAAATGCACCTTAAAAATATATATACATATAATAGTTTTGAAATGGGATTCTGCTTTATTTTGATGGAATGGCCATTAAATACACATTTTGAGATAATACATTGTTGTGGTGTTTCTTTATACATTATCCTTTTAGGTCGTGCTAGTAAAAGTATATTGATGAAGGAATTATGATGCTTTATACTTCTTACTGCACTAAATTGATAGAACTAGTACTTGTCATAATCGGTTCTGTCTCCGCTCACATGACTAATACGTAATTGCCTTTCCAAAAAGATATTTTTGCCTCAGAACTTACTGACAAGCTGAGAGGCTATGAAGATGGAAATTTGTGAAAGAAGTAGTGCTCTTATATTTGGCCTCATCATTTGGGCCATTTCAGTATAGTAATGATATCACTAATCGGAATTAGCATGAGAGGGAAGTAAGCCAGGAAGAATAAAACTGCTGAATGTTTGTATGTGTAAGATATTTCCAAAGATTCTAAATAAATGTAGTTGCCTACAGAGCAAATGGAGTTTTATTATATATGAAAAAGTGTAC)$ MPENPATDKLQVLQVLDRLKMKLQEKGDTSQNEKLSMFYETLKSPLFNQILTLQQSIKQLKGQLNHIPSDCSANFDFSRKGLLVFTDGSITNGNVHRPSNNSTVSGLFPWTPKLGNEDFNSVIQQMAQGRQIEYIDIERPSTGGLGFSVVALRSQNLGKVDIFVKDVQPGSVADRDQRLKENDQILAINHTPLDQNISHQQAIALLQQTTGSLRLIVAREPVHTKSSTSSSLNDTTLPETVCWGHVEEVELINDGSGLGFGIVGGKTSGVVVRTIVPGGLADRDGRLQTGDHILKIGGTNVQGMTSEQVAQVLRNCGNSVRMLVARDPAGDISVTPPAPAALPVALPTVASKGPGSDSSLFETYNVELVRKDGQSLGIRIVGYVGTSHTGEASGIYVKSIIPGSAAYHNGHIQVNDKIVAVDGVNIQGFANHDVVEVLRNAGQVVHLTLVRRKTSSSTSPLEPPSDRGTVVEPLKPPALFLTGAVETETNVDGEDEEIKERIDTLKNDNIQALEKLEKVPDSPENELKSRWENLLGPDYEVMVATLDTQIADDAELQKYSKLLPIHTLRLGVEVDSFDGHHYISSIVSGGPVDTLGLLQPEDELLEVNGMQLYGKSRREAVSFLKEVPPPFTLVCCRRLFDDEASVDEPRRTETSLPETEVDHNMDVNTEEDDDGELALWSPEVKIVELVKDCKGLGFSILDYQDPLDPTRSVIVIRSLVADGVAERSGGLLPGDRLVSVNEYCLDNTSLAEAVEILKAVPPGLVHLGICKPLVEDNEEESCYILHSSSNEDKTEFSGTIHDINSSLILEAPKGFRDEPYFKEELVDEPFLDLGKSFHSQQKEIEQSKEAWEMHEFLTPRLQEMDEEREILVDEEYELYQDPSPSMELYPLSHIQEATPVPSVNELHFGTQWLHDNEPSESQEARTGRTVYSQEAQPYGYCPENVMKENFVMESLPSVPSTEGNSQQGRFDDLENLNSLAKTSLDLGMIPNDVQGPSLLIDLPVVAQRREQEDLPLYQHQATRVISKASAYTGMLSSRYATDTCELPEREEGEGEETPNFSHWGPPRIVEIFREPNVSLGISIVGGQTVIKRLKNGEELKGIFIKQVLEDSPAGKTNALKTGDKILEVSGVDLQNASHSEAVEAIKNAGNPVVFIVQSLSSTPRVIPNVHNKANKITGNQNQDTQEKKEKRQGTAPPPMKLPPPYKALTDDSDENEEEDAFTDQKIRQRYADLPGELHIIELEKDKNGLGLSLAGNKDRSRMSIFVVGINPEGPAAADGRMRIGDELLEINNQILYGRSHQNASAIIKTAPSKVKLVFIRNEDAVNQMAVTPFPVPSSSPSSIEDQSGTEPISSEEDGSVEVGIKQLPESESFKLAVSQMKQQKYPTKVSFSSQEIPLAPASSYHSTDADFTGYGGFQAPLSVDPATCPIVPGQEMIIEISKGRSGLGLSIVGGKDTPLNAIVIHEVYEEGAAARDGRLWAGDQILEVNGVDLRNSSHEEAITALRQTPQKVRLVVYRDEAH|wLVVYRDEAHYRDEENLEIFPVDLQKKAGRGLGLSIVGKRNGSGVFISDIVKGGAADLDGRLIQGDQILSVNGEDMRNASQETVATILKCAQGLVQLEIGRLRAGSWTSARTTSQNSQGSQQSAHSSCHPSFAPVITGLQNLVGTKRVSDPSQKNSGTDMEPRTVEINRELSDALGISIAGGRGSPLGDIPVFIAMIQASGVAARTQKLKVGDRIVSINGQPLDGLSHADVVNLLKNAYGRIILQVVADTNISAIAAQLENMSTGYHLGSPTAEHHPEDTETPPPKIITLEKGSEGLGFSIVGGYGSPHGDLPIYVKTVFAKGAAADDGRLKRGDQILAVNGETLEGVTHEQAVAILKHQRGTVTLTVLS* 21CO006 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 13 3 0 746 22 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCA)CGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAGATAATCGAATTTAGTATTTTGAAA MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 21CO006 ENSG00000267881.2 ENSG00000007306.15 +/- -/- chr19:41742644 chr19:41687221 intron CDS/splice-site deletion/read-through/3'-3' 7 8 1 101 1086 medium . . |Immunoglobulin_V-set_domain(100%),Immunoglobulin_domain(100%) . . ENSG00000267881.2 ENSG00000007306.15 . ENST00000006724.7 upstream downstream duplicates(2) GGGCAAGTTCTTCTAGATAGGTGCTCCATGACGGGTCTCTCCTCAAGAGTTGACAGTTGATCAGCAGACCATAGCATACCTGCCATGGACCTTTCATCTTTAGGGGATTGCCTTAGAACTTCCATCCTGGGCCACCTCGGAACTCACACACTTTCGGAGGGTGCGTCAGAAGCATATCCAG|CCTCGCTTTTAACCTTCTGGAACCTGCCAAACAGTGCCCAGACCAATATTGATGTCGTGCCGTTCAATGTCGCAGAAGGGAAGGAGGTCCTTCTAGTAGTCCATAATGAGTCCCAGAATCTTTATGGCTACAACTGGTACAAAGGGGAAAGGGTGCATGCCAACTATCGAATTATA(GGATATGTAAAAAATATAAGTCAAGAAAATGCCCCAGGGCCCGCACACAACGGTCGAGAGACAATATACCCCAATGGAACCCTGCTGATCCAGAACGTCACCCACAATGACGCAGGAATCTATACCCTACACGTTATAAAAGAAAATCTTGTGAATGAAGAAGTAACCAGACAATTCTACGTATTCT___CGGAGCCACCCAAGCCCTCCATCACCAGCAACAACTTCAATCCGGTGGAGAACAAAGATATTGTGGTTTTAACCTGTCAACCTGAGACTCAGAACACAACCTACCTGTGGTGGGTAAACAATCAGAGCCTCCTGGTCAGTCCCAGGCTGCTGCTCTCCACTGACAACAGGACCCTCGTTCTACTCAGCGCCACAAAGAATGACATAGGACCCTATGAATGTGAAATACAGAACCCAGTGGGTGCCAGCCGCAGTGACCCAGTCACCCTGAATGTCCGCT___ATGAGTCAGTACAAGCAAGTTCACCTGACCTCTCAGCTGGGACCGCTGTCAGCATCATGATTGGAGTACTGGCTGGGATGGCTCTGATATAGCAGCCTTGGTGTAGTTTCTGCATTTCGGGAAGAGTG___TTTTTATTATCCACCTGCAGACTGGACTGGATTCTTCTAGCTCCTTCAATCCCATTTTCTCCTGTGGCATCACTAAGTATAAGACCTGCTCTCTTCCTGAAGACCTATAAGCTGGAGGTGGACAACTCAATGTAAATTTCAAGGAAAAACCCTCATGCCTGAGATGTGGGCCACTCAGAGCTAACCAAAATGTTCAACACCATAACTAGAGACACTCAAATTGCCAACCAGGACAAGAAGTTGATGACTTCATGCTGTGGACAGTTTTTCCCAAGATGTCCCAAGCCTCATCGTGACGAGGCTCTTATCCCACTCCATTTTTCCCTGCTCATGCCTGCCTCTTTAATTTGGTAAGATAATGCTGTAACTAGAATTTCACAATCAGCGCCTTGTGCAGGTAATTTGACAGAGTGTTGGATGTGTCATGTCATCATGTCAAACCCAAATATTTGACCTAAGGGATCCTTTATTCTGCCCAGTGGCTAACTTTAACAACATCCCTAATACAACTGTTTATTCAAATGCACGGTGGTCCCTGTTAGAGTTAGACCTCTAGACTCACCTGTTCTCACGCCCTGTTTTAATTTAACCCAGCTATGGGATGCCAGATAACAGAATTGCTGCCTACTAGCTGAACAGGGAGGAGTTTGTGCAGTTGCTGACACTTCTTGTTGCACATAAATAAATACAGTGGGTACTATAGAGACTCAGTTGCAAAAATTAACAAATATGCTGCTTGATTAAAATGGGTAGGCTTCTCATGTGGCTCATTCTTTAATCTATTCTCTTTTATTTGGTTTGGTTCATGGGGTCTCTGCCTATGGATCATACTTCAAACTCTTGGTGTGATCCTCCTGATTGTCACAATATTAGTTACCCTGGTGTGCTGTATTCTCTAAAACCTTTAAATGTTTGCATGCAGCCATTCGTCAAATGTCAAATATTCTCTCTTTGGCTGGAATGACAAAAACTCAAATAAATGTATGATTAGGAGGACATCATAACCTATGAATGATGGAAGTCCAAAATGATGGTAACTGACAGTAGTGTTAATGCCTTATGTTTAGTCAAACTCTCATTTAGGTGACAGCCTGGTGACTCCAGAATGGAGCCAGTCATGCTAAATGCCATATACTCACACTGAAACATGAGGAAGCAGGTAGATCCCAGAACAGACAAAATTTTCCTAAAAACATGAGAGTCCAGGCTGTCTGAGTCAGCACAGTAAGAAAGTCCTTTCTGCTTTAACTCTTAGAAAAAAGTAATATGAAGTATTCTGAAATTAACCAATCAGTTTATTTAAATCAATTTATTTATATTCTTCTGTTCCTGGATTCCCATTTTACAAAACCCACTGTTCTACTGTTGTATTGCCCAGTAGGAGCTATCACTATATTTTGCAGAATGGAAACTGCCCTGACTCATGAATCACAAATAAAAGCCAATTGTATCT)$ . 21CO006 ENSG00000287941.1 ENSG00000287941.1 -/- -/+ chr3:182617512 chr3:182603889 exon/splice-site intron inversion/5'-5' 2 5 0 11 21 medium . . . . . ENSG00000287941.1 ENSG00000287941.1 ENST00000661576.1 . upstream upstream duplicates(1) ^(GTGTCCATTCGGATGTGGAGTTTGGAGAGGCCCTCCTTGTTTTCCAG___)GCTGTGAGCCATGGGAAGCGTGTCAACCATGTCAAACCAAAGGATCAAGAAATTGAAGATTCCGTTCACTTGCCTTGGAGTTTGAG|GTTTGTACATCTGCTGTCATTTGGATGATTTCAGCTGTGCTGATCCGCGCAAGGCTGGACTTAAGCCAGAGCACTTTCAGGTTTGCTGCTACGTGCCTTCATTCCAGACCTCAGGCTGAAGGCACAACATTTGCCTGAGACGAGCTGTTCTCGAGACAGAGGGAAGAAGCTTCAAGAGGGCTGGCAGAAACTTATCATGAGTCTTTTGAAGTCTGTACTCACAAATACCATGCTGCTACTTCCAcCC . 21CO006 ENSG00000037637.11 ENSG00000117523.16 -/- +/+ chr1:16352255 chr1:171579354 5'UTR/splice-site CDS/splice-site inversion 3 0 0 25 28 medium . . . . . ENSG00000037637.11 ENSG00000117523.16 ENST00000375592.8 ENST00000367742.7 upstream upstream . ^(CTGCGCTGTCTTCTCCCGGCCTGAGCAGCAGCAGCTGCGGCGGCGG)CGGCGTTTGAGTGGAGGAAGATGGCGGCTCCGGGCGGCTCGGGGTCCCGCCAGCTGTGAGGAGCCCCGAGCACGGCTGTCGCGGCCTGAGGCAGAGCGCCTCTGCTCTGGCCCTGTCCCTGGCTCCCTCATTACCGTCGCCAGCGGAGCGAACCCGAGAGCGTGGAGCGGGCTGGGCCAG|CTCAAATCCCAGCCTTCTATATGGACACAAGTCATTTATTCAATACCCAACATGCACGATTGGCT(CCGCCATCCTTGGCTCAACAACAGGGTTTCCAACCAGGTCTCTCTCAG___CCAACTTCAGTTCAGCAGATTCCAATCCCTATTTATGCACCACTGCAAGGGCAGCATCAAGCCCAACTGAGTTTGGGGGCTGGCCCTGCTGTTTCCCAGGCTCAGGAATTGTTCAGCTCCTCACTTCAACCATATAG___ATCTCAGCCAGCTTTTATGCAAAGCAGTTTATCCCAGCCATCTGTGGTCCTTTCTGGTACTGCTATTCACAACTTTCCAACTGTCCAACACCAAGAACTTGCCAAGGCACAATCCGGTCTTGCCTTTCAGCAAACATCAAATACTCAGCCCATTCCTATATTGTATGAACATCAACTGGGGCAGGCATCAGGACTAGGAGGTTCCCAGCTGATTGACACACATCTTCTCCAG___GCCAGAGCAAATCTTACCCAGGCCTCAAATCTTTATTCTGGACAAGTACAACAGCCTGGTCAGACAAATTTTTATAACACTGCCCAGTCACCAAGTGCTCTCCAGCAG___GTTACAGTACCTTTACCAGCATCGCAGCTTTCCTTGCCTAATTTTGGATCTACAGGGCAACCTCTAATTGCTTTGCCTCAGACTCTTCAGCCCCCATTACAGCATACCACTCCCCAAGCACAGGCTCAGAGTCTGAGTCGTCCTGCACAAGTAAGCCAGCCTTTCAGAGGATTAATTCCTGCTGGAACACAGCATAGCATGATTGCAACCACAGGAAAA___ATGTCTGAAATGGAACTAAAAGCCTTTGGAAGTGGCATTGATATAAAACCAGGCACACCTCCAATCGCTGGTAGAAGCACCACACCAACATCTAGTCCCTTCCG___GGCTACTTCTACAAGTCCGAACAGCCAGTCCAGCAAAATGAACAGCATTGTCTACCAGAAGCAGTTCCAGTCAGCCCCTGCCACTGTGAGAATGACACAACCATTTCCTACACAGTTTGCACCCCAG___GCAAAGCAGAGAGCAGAGGTTCTTCAGTCCACGCAACGGTTCTTCTCTGAACAGCAACAGAGCAAACAGATAGGAGGAGGCAAAGCCCAGAAAGTGGACAGTGATTCAAGTAAACCTCCTGAAACACTGACCGACCCTCCTGGGGTCTGTCAGGAAAAAGTAGAAGAAAAGCCACCCCCTGCACCCTCCATAGCCACCAAACCTGTTAGAACTGGACCAATCAAACCTCAGGCGATCAAAACCGAAGAAACAAAATCTTAAAGGCTATGGTTTATTGCAGGGGATTGGGAGGGGGGCGGGAAAACATGGAGAATTAAGTCAGATAATGCTGGCAGCCAAAGGGGCAAAATGGCCTGTGACATTATCCTGTTCAGAGCTTGGAGATGTACAAGGGACATAGGAGCAATTTACACTGACACACAGCTGCTGTACCAGTGAAAACGAGGCTTTGCAAGCTTGTACCTACTATATAACATGTGCTTGGTTGATGGCCATGCATCTTCAGTCAGAATTTATATATAAATGTATGCACCCATTTTTTTGAGTGCATATAATTTAGACCTAAAAATCCTTATGATTAGATGAAACACCAAAAATATAAGGAAAATAACACAGCAGAGGAATAGCTCAGCCTGAACAGTGTGATGGTCCCAGCTACTACATCAGATGCGGTTTTTTTGCTCCCTTATGTTCTTCGGATATGGTTATGGCATTTGTAGGCTTGGAGGTAAAGAACTGAAGATAACTGGTGCTGGATAGAGGAGCCTTATTTTTTATTATGGCAGCTTGCTATTTTTATAACATGGTGATTGAGTTGAACACAATCAAAGTACAGTAGTAACTGATGTCCCCTTCTTCCTGGATGAATGAGCAGATAAATATTGATGTCAGCATCCTTGAACCATATCAAAGTGAGCAGTGTTTGGCTACTGCTTCTATTTGAAATGGTGCTGTGTTTTGGTTGTGGTCTGAAGCTTTGAAGCGCTACTTAGCATCTCCTTTCTTCCATGGAGCTCTCACGATTCAAACATGACAGATTTGGTAAAATGCTGGTTAGGTTGAGTCTTCCTTGCCCCCACTCAGTCATCTTTGTATGAATCCCATGATTTGGGGGTTTTTTTCTTTTTTTTTTTATACCAGTTTTTAGCTGGTGTTTATGAAGAACAGTGAGTACCTAGAACTGTGCCACTAATTAAAGGAAATCCTAAGAAGGTGCATTTCTTTACAGAGCTGTGTCATGCCATCCTTTGGGCCCTCTGCTGGAAAAGTAGAATCAAGTCTCAAATAATGCCTTTTTAATTGTATCCTCTAGTATTATAGATATAGGACAGTACTGTATCATACCTCTGTGAATGTAAAATATCTTGTACCTGCTTTATGATACGTAGTAGTGACCGTGCTTTATCAGAGCTGTTTTTAATGATGTTATTCTAGAATGTTTTCTTTCCAGATGATGATTCAGAAGCTAATTTTAAAAAACGGTGCCAGGTACCACAACAGTAACAGAACTTTGCAATTTTCTGGGGTTTTGTTTTTTACCTTTTTCCCCCCTTTTTTTTAAATGGAGTGTGCTGGATGTCTCTATAATTTTATTCAGATGACTGCAGAACCTGGAAAAGCTGTTGCTGCTATTGATGCATAACATACTGCTATTGGTCTTTTTATATAAATATATATATATATATACATATATATATATAATTTGAATTTTTGGAAACTTTAGCTGTGCTGTCAACTTTGGAAAAAGTATCCCGGTTTACTGTGTTGAGTTGGCATTGTACAGAAATTAACAGCCATATTGGTCTAGAAACGTTAAACTTAATTTTTTTCCATTTGTACAGGGGTAACGCACTGTATTAAATATGTAAGGTCTTATCTACATGGGTTTGATTACAGAAACTAATAAAGTATTCTCTAAATAATGA)$ . 21CO007 ENSG00000115808.12(415),ENSG00000008869.12(13944) ENSG00000008869.12 ./- -/- chr2:36966951 chr2:36981794 intergenic CDS/splice-site duplication 18 11 1 62 73 high . . . . . . ENSG00000008869.12 . ENST00000233099.6 upstream downstream duplicates(1) GTTGTCTTAGAAAGGTGATCGGCGTTCCTTAGAAATGAAAACTGGTCAGGTAACAGGTTTGAGCCCCTCGAGTCAAAAGAGAAAGGCAAGAGCGACAGCGACCCGCAGATTGGCAGAATGGAGGAGCGTCTAGGGTGAGAGAAACTCCGAACACGAAGCCGAAGCGAGAGCACGCAGGGCAGCTGGCGGGAGAACCCCGGTCCCGCGGCCGCACCGGGTAGCTCGCTTTGAGCCTGTTCCTTCACAGAACGGCCAGGAAGCCTTAAAAGATGTGCAGCTCGGGCAG|GAGTCCAGCTACTTGCTCTTTTAGTTCCCACTTTGATATCTTACCTGCTGGATGAAAATTCTTTTGCCTCAGCAAGTTCAGCTTCCAAAGATCTTCATGAGTTTGCACTCCAGAATTTAATGCATATTGGACCTCTGTATCCACATGCTTTCAAGACAGTAATGGGGGCTGCTCCTGAGTTGAAAGTGCGTCTAGAAACTGCCGTTCGAGCAAGCCAAGCGAGCAAAGCTAAAGCGGCTGCCAGACAACCAGCCCCCGCCATACATTCTGCACCAAC(AATTAAGCTAAAAACAAGTTTTTTTTAATTTGTAATTTCATTTATTTGTATTTATGTTGTCAACTAGCCCCTAATTAGTGATGGCCACTGTATCATTCCAGGCTACCTATGGGTTCTGTTTTATTTGTATATTGGTATTATAGTGCTTCCAAGTAGGTTAAGTGAAATAATGCTCACACCACTTATTGATTTTTAAGGAGTGATTTTTTTTATCATGTGGTGAATATGTTTTCATTTTCCTCCTAATAATGTTTCTCTTTTGTTAACTTATTTATTTTTCAAACACTGAGCCATAGTCTTAAATTTAAATGCTAAAAACAATTGTATCATGTAGTCGGGCAGCCTATTGATACTGTCAGGGGAAAAAAATGGGTCAGAACTCAGCATCTGTCATGAAAAAAATCAATTGAAAAACAAGCAGATTTTAAATTTTGAAGTAATCAAAATAATGGAAAGTGTCTGTTTTGTGGTGTATATACTATGAATAAAATCACAGCATTTTCTAAGCATTTCCCAAAATGTCCTTATCTTTCTGATGGATCTTTTAGCTTTCATATCAAATTACTAAATTATGCTATGTATATTTTAGTTGGTAACAATTAAAATTCTCATTTAAAGGTTCA)$ . 21CO007 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 15 12 0 30 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(1),mismappers(1) CGATGACCCAGAAAGATGGAGTGGGGGAAGACGTCAGCTGAGAGGCTCATTAGGAGGATGCCTGGGGCTGG___...CCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 21CO007 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 9 15 2 41 34 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismappers(1) CAGAAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACC(TCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 21CO007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 7 0 145 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCA)GCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 21CO007 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 10 6 0 212 20 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(1),mismatches(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGT)GAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGgGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGGGGTTGCGGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCTAC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 21CO007 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 2 11 0 19 24 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismappers(1) AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAAC(GTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 21CO007 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 8 3 0 25 52 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream mismatches(1) GACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCAC(CGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 21CO007 ENSG00000134597.16 ENSG00000102078.16 +/+ +/+ chrX:130411525 chrX:130346544 CDS/splice-site CDS/splice-site duplication 6 2 0 34 36 high in-frame . |Mitochondrial_carrier_protein(100%) . . ENSG00000134597.16 ENSG00000102078.16 ENST00000305536.11 ENST00000612248.4 downstream upstream . ^(CTTTCCCGGGCGCTGATTCCTGAGTGCTGAGCGCGAACCCGAGGAGATGAA___CCCTTTAACTAAGGTGAAGCTGATCAACGAGCTGAATGAACGAGAGGTCCAGCTTGGGGTGGCCGATAAGGTGTCCTGGCACTCCGAGTACAAGGACAGCGCCTGGATCTTCCTGG___GAGGGCTTCCTTATGAACTGACTGAAGGGGACATCATCTGTGTGTTCTCACA___ATATGGGGAGATTGTTAACATTAATCTCGTGCGGGACAAGAAAACTGGGAAATCCAAAGGATTCTGTTTCCTCTGCTATGAAGACCAGAGGAGCACAATTCTGGCCGTCG)ACAATTTTAATGGGATCAAG___ATCAAAGGAAGAACTATCCGAGTGGATCATGTGTCTAACTATCGGGCTCCTAAGGACTCAGAAGAAATAGATGATGTGACCAGACAACTCCAGGAGAAGGGCTGTGGGGCTCGTACCCCCTCACCAAGTTTGTCTGAGAGCTCTGAAGATGAAAAACCAACAAAAAAGCACAAAAAAG|GGACTTTCCCTGTGGACCTTACCAAAACACGACTTCAGGTTCAAGGCCAAAGCATTGATGCCCGTTTCAAAGAGATAAAATATAGAGGGATGTTCCATGCGCTGTTTCGCATCTGTAAAGAG(GAAGGTGTATTGGCTCTCTATTCAGG___AATTGCTCCTGCGTTGCTAAGACAAGCATCATATGGCACCATTAAAATTGGGATTTACCAAAGCTTGAAGCGCTTATTCGTAGAACGTTTAGAAG___ATGAAACTCTTTTAATTAATATGATCTGTGGGGTAGTGTCAGGAGTGATATCTTCCACTATAGCCAATCCCACCGATGTTCTAAAG___ATTCGAATGCAGGCTCAAGGAAGCTTGTTCCAAGGGAGCATGATTGGAAGCTTTATCGATATATACCAACAAGAAGGCACCAGGGGTCTGTGGAGG___TGCTTATGTTCAAAAGCTGTTACCGGCTGTGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACTTGAG___GGTGTGGTTCCAACTGCTCAGCGTGCTGCCATCGTTGTAGGAGTAGAGCTACCAGTCTATGATATTACTAAGAAGCATTTAATATTGTCAGGAATGATGGGCGATACAATTTTAACTCACTTCGT___TTCCAGCTTTACATGTGGTTTGGCTGGGGCTCTGGCCTCCAACCCGGTTGATGTGGTTCGAACTCGCATGATGAACCAGAGGGCAATCGTGGGACATGTGGATCTCTATAAGGGCACTGTTGATGGTATTTTAAAG___ATGTGGAAACATGAGGGCTTTTTTGCACTCTATAAAGGATTTTGGCCAAACTGGCTTCGGCTTGGACCCTGGAACATCATT___TTTTTTATTACATACGAGCAGCTAAAGAGGCTTCAAATCTAAGAACTGAATTATATGTGAGCCCAGCCCTGCCAGCCTTTCTACTCCTTTGCCCTTTTCCCGTGTTCTAATGTATTTTGACAATGTTGTAAGTGTTTACCAAGCCGTTGGTCTCCTAAGGGCCTCCTGATGGAAGAACAGTGGGGTGGTTCAAAGTTATTTCTATGTTTGTGTTACCATGTTAACTTTTCCCCGAGAGAAAGTGTTAACATTGAGACTCTGGCCCCAGATTGGTATCTTCTATGAAGATGGATACTGATGGGTGACATTGAAAACGGCCTGCTTTCCAAATGTGGTTAAATGTAATTGGTTAGCCCCAGACTTGGGCTAGAGCAGAAGGCATAGGCCAGGGTGGTTATTGCTATATGTGTTACAGACCTCGGTTCTCATTAAAGTATTTATTGGCAGAATCAC)$ MNPLTKVKLINELNEREVQLGVADKVSWHSEYKDSAWIFLGGLPYELTEGDIICVFSQYGEIVNINLVRDKKTGKSKGFCFLCYEDQRSTILAVDNFNGIKIKGRTIRVDHVSNYRAPKDSEEIDDVTRQLQEKGCGARTPSPSLSESSEDEKPTKKHKK|gTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRCLCSKAVTGCVLWLMPVIPALWEANAGGSLEGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI* 21CO007 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 15 8 0 749 40 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAA)GCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGT MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 21CO007 ENSG00000143067.5 ENSG00000250658.1 -/- -/- chr1:119625875 chr4:187307269 CDS/splice-site exon/splice-site translocation 0 5 0 11 2 medium out-of-frame . . . . ENSG00000143067.5 ENSG00000250658.1 ENST00000421812.3 ENST00000511385.1 upstream downstream . ^(AGTGAGGAGTCAGCCGGGCAGCCAGCCAGCGAGCCAGCCAGCCAGCCAGCCAGCCAGCCAGCCAACCAGCCAGCCAGCGGGCCACCCAGCGGCCGCTGCAGCCGCCGCCGCCGCACAAGGGCAGACGCGCTGCGGTGCGGGGCTCGGGCCGGGGCGCTCGGTGCCCTAGCTCCTCGCCGCGCCAGCCGCCTCGCAGGTAGGAGCGTGGCTGTGGCTGGGCTCAACCGCCTCCCGGGGATGGGGCTGATCGGGACCAGACCCGACCGCTGCGGGGATGGGGTGTGTGTTCGAGTGCGGTGGCGGAACGGCTGGGCGAAGTTGTGCCTCGTAAAGTGGACCGTTGTCCGCTCCCCTGGGGCGCAGGGCCCCGGGCTTATGGGGTGCTCTCGCGCCCCCAAAGCCAGGACTGAGCTCCCTCAGGGGTATGTGGCGAGGGGCGGGGAGGAGGAGGCTGAGACTTGAGGGAGGAGACAGCGATGCAAGAGGGAATAGGACCGTCCCGCCGACCACCGAAGGGGGCATCAGAGACCCTCGGAGAAACCAAGCCCAGGGAGGAGCTTGGAAGGCAAGGAGAAG___GGATTCCTGGTCACCTCCCTTGCTCTTTTCTTCCTGGATGAAACAAGAAGATAATCAGGGTGTCTGTGCACACCAGGACTCAGAAGACAAAGGGATGGGTTCTGATTTTGAGGACTCTGAGGACAGGGAAGGGGACCCAGAAGAAAGAGAAATGGGCTCTAATCCACATGACA)CAAACAAGAGAGAAGGCCATCCGGAGCCGGAGATGGGCTCCAACCCACAGGACTCAAGGCACAGGGAAGCAGTGCCCGACATCTGCACAG|TGATCTGAAACTGAGCTCACAATATTTCTGAGGCATGCCTGTACTGCCCTCTCCCAAGAATGCCTACGTGACCAGCCCTCAGACTGGATCTTCTGCCTCCAAATTATGTGAGAGACTGAGAGCTCTCTCTCTTCATTTCCTCGTAAGGCCACCAAACCCGTCAG___CACCTACTTACCTGACCATTGTCTCAACTACAGC(TGATGGGATCCATGACAGAAGCTTAACCAAAACTAGCCCATGAGATTGTTTTTCTCAGGAATGTAGAAATGAGGCAGAGGTTAGCCACTGTCCGTGTGCTCTGGAGCTAAACGCATGTAAGTGTAAGGGTTCTCTTCTGTCCTAAGCTGACACAGGCTGCAGAGAAAAGTGGTTGATGCTGCCAGTCAGAGAGAAGCAGATGAAGGAGCCATGCAGCCTGGAAGGCGAGAGGAGGGCCAAGAAAATGAGCTTGGTTTCCAACGGGTTCCGCAATTGCTATTTTCGGTGGCTGCTGAGCCCAGGTGCTGTTTCTTCACTTGAGCTCCATGACCCTCCCTGTGTGGTGGGTTGAACGGTGACCTCCAAAAGATATGTCCACCTGGAACCTCAGAATAAGATCTTATTTGGAATAGTCTTTGTAGATGTCAGTAAGGTAAAGATTTGGAGATGAGACCCTCCTGGATTAGGGTAGGCCCTAGGTCCACTGGCAGGTGTGCTTCTCAGGGTCTGAAAGGGGAAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAG___ACAGGGCCACCCAGAGGAGGAGACGGAGGCAGAGACAGGGCCACCCAGAGGAGGAGGCGGAGGCAGAGATTGGAGTGATGCTGAGACAGGCTGGGCCGAGGTCCGCCAAGGGCTGCCAGGCAGCCACCAGAAGCTGGGAGAGAGCCAAGCAAGGACCCCCCGCTGAGCCTTCCGAGAGAGCGCGGCCTGCTGACACCTGGGTGTCAGACTTCTGGCCTGCAGACTGTCAGAATAAGCTCCTGTTGTTTTAAGCCACCTGGTTTATGGTAATTTCTTGCAGCAGACCTAGCAAATTAATAGACCCCATAGTCCTGTAATTCATTTTGCTTAAACGAGCATGAATAAGATTTAGTTTTGCTAATAAATAAAAGTTACTTCACTAAGA)$ MKQEDNQGVCAHQDSEDKGMGSDFEDSEDREGDPEEREMGSNPHDTNKREGHPEPEMGSNPQDSRHREAVPDICT|vi* 21CO007 ENSG00000103489.12 ENSG00000120162.10 -/- -/- chr16:17258988 chr9:27330616 CDS/splice-site CDS/splice-site translocation 2 0 0 19 29 medium out-of-frame . . . . ENSG00000103489.12 ENSG00000120162.10 ENST00000261381.7 ENST00000262244.6 upstream downstream . ^(ACCCTCCCCTCCAGCGGGGACAGGGGTGTGGGGAGGGGGGCGGCGGCGGCGGCCCGAGCGGGAGCCCGAGCGGCAGCCGGCGGCCGCGGGAGCTGCGGGGAGCGCGGGGGCGGCCCGGAGCGTGCCGGGGTCCCCGCGCCTCGCTCGCCGGCCGCGCTCCGAAGATGGTGGCGGCGCCGTGCGCCCGGAGGCTGGCCCGGCGCTCGCACTCGGCGCTGCTCGCGGCGCTCACGGTGCTGCTGCTGCAGACGCTGGTCGTGTGGAATTTCAGCAGCCTCGACTCCGGGGCCGGGGAGCGCCGCGGGGGCGCAGCGGTCGGCGGCGGGGAGCAGCCGCCCCCGGCCCCGGCCCCGCGCCGGGAGCGCCGGGACCTGCCCGCCGAGCCGGCTGCAGCCCGAGGAGGAGGAGGAGGCGGCGGCGGAGGAGGAGGAGGACGGGGGCCCCAGGCGCGGGCGCGGGGAGGCGGCCCCGGAGAACCGCGGGGACAGCAGCCGGCCAGCCGGGGGGCACTGCCCGCCCGGGCTCTG___GATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAG___GATGGCTACTTTTCTCATCGGCCGAAAGAGAAAGTGCGAACAGACAGCAACAACGAGAACTCTGTCCCCAAAGACTTTGAGAATGTCGACAACAGCAACTTCGCACCCAGGACTCAAAAGCAGAAGCACCAGCCTGAGTTGGCGAAGAAGCCACCGAGTAGACAGAAGGAGCTTTTGAAAAGGAAGCTGGAACAGCAGGAGAAAGGAAAAGGACATACATTCCCTGGGAAAGGCCCCGGTGAGGTGCTGCCTCCCGGGGACAGAGCCGCAGCCAACAGCAGCCACGGGAAGGATGTGTCCAGACCGCCTCATGCCAGGAAAACTGGGGGCAGCTCCCCCGAGACCAAGTATGACCAGCCCCCTAAGTGTGAC)ATCTCAGGCAAGGAGGCCATCTCTGCCCTGTCCCGTGCTAAGTCCAAGCACTGCCGCCAGGAGATTGGGGAGACTTACTGCCGCCACAAGTTAGGGCTGCTGATGCCTGAGAAGGTGACTCGGTTCTGCCCCCTCGAGG|AAAGAAATGACGAGCAGGATGTGTCACTAATGCTCCACCTCACCCTTTGGAAGAAAG(GAAAGCTGTTTCCTCCTGGTGCCCTGAGCGGGCAGGAGGTGGACCACCCTGGCTGAAATGACACACCTACTCCCAGGAACAGCAGAGGTGGAGGCAAGCAGTGACTCCTGAGAGACATTCCCCACTCACTTTGTGTGCTCTTAACCTTCTGAGTGCTGCTAGCCCAGACCTGTGGACGAGGCAGACCACAACGTGAAAGAAGGACCAGCCCCTTGACCGTTCTGGCTGGGGAATTGTCCACGAGGAAGCCTCTGCACTTCCACACATGGCACAGTTCTGCCTGTGACCTGCCGCCTAAGCTTTACTGGAATTCAGGTTTTGAGACTGAGATGCGTGTTCGTATTTTTCCACTTATCTGTCTTGTCAGCTGGCCGACTTCTCTGTGATTGGTTTTTTAAGTGCCGGGTGAATTTTGGACCTCTGGATGTGCAGCAAGTTTTTATGCAATAAGCCTTCCTTTCAGGTCTCTAAAAGCTCCTGCTCTGATCTGTGGTTTAACACTGTGCAGGGCTGTGGAGCTCTGAGACACCTGAACCCCTACCCATCCCCTGCACCTCCCTACTCTCCCTGCCGAGGCGTCCATAGCATTTCCCTAATAAATAGTTTTATCAGGGACACTCCATGGGGTGGCTTGTCTCTGCCCCAAACAGGGTCTTCACGTTCTAACTGCAGGGAAGAGACTGGTTACTAGCGTAAAGCTGACAAGTTACCAGTTCACCTGATCAGAATGTATTTTTTATAACCACCATCATTCCTTGTCTCTTCAGTGGAAGATATTCTTTCCTGTTTCCCAGAAGAGAGAAATAAAAGTCCTAAATAACTAAGAATGATCAGCGGGAGCGTTGGGCATGATTACTGCAGTGTTTGTTCTTTATTAAAGACAGGGAGTCGTGGCTGTCTCTACATAATACTAACATTTCAGTGAAAAAAGTACAATTGGTTATTTGGTACGTGTAGATTTAACACCCAGACGGCTGACTTGTAACCCTCCCCACTAGCCTTCTGAGCATTTAAACCCAGCCGTCATTCTCTCCCCACTCCACGCTCCCCACTCCTCTGCCACGTTATGTTACGGCACAAAATTAATTTCTGCCCCTGTGATTGGGCCACGGTTGCCAAGGTAACAGTGGAGCTGGAGCTAACTTCCTTCTTTCATCCTTTCCAATTTTTCTATTCCAGAAGACAGTCAGAATAATGCATTCTGTACTACATCCTGCCTTTTGAAACCTAAATGAGTTTTCGTTGATGAAATGTTGCCTTCTCTGATTCATTCACAAAACTGTGGTGGTTCTGACCACCTGTGACGAGGGGGGTCATAATACTTCCAGTGATCCTTTTAATTTAGCAAAATATTTGTCGGTGGAGGGAAGTAGATAAGAATGTATTAGTGTATTTTAAAGTAATAATGATTAAAGAATAACTAAATGACTCTGATTTTGTTTTATCAATCATAATGTGTTAAAGCCCTCTGTGGCTGCCACAAAAGACTAGAATCATGAAATCTTTGTCCAAGCTAAGAAAGGGCTGTCTCTGTGGGTACAGTGGCATTCTCTGTTGACCTAACCAAGCAGCCTGAACCTTGCTTTGTGTCTCGTAAAGGTCATCTCACGGAATCCAATTGCTGCTACCTCACCATGTTGCTGTGCCCTGGTCAACAATAAACATACTTTTGTCCCCCTTCCTAAGTAACTTTGAGAGGACAAGATAGGCAAAGTTTTTTCCCTACATCTCTTTTGGCCAAAAGAATATCTGACCATCACAGAGATCCAGAGAACAGAAACAAGAGCCCCTAAGTCCCAGCCTCTGCAATACACAGTTACCAGATGGGAATGCAGCACAGTGGCACAGAGAGGTAACTACGGAGCCCATGCCCTGGAGGAACTCTGTAGCTGTGCATCATGGAACGCCACAGGATTTTTACATTAAAAAGTTGAATATGTTCCTGCATTTCAGCAGTGCATAATCGAGCAGGAGGCTGGAATCTGGAGACCTTTGTTATTCATTCTTTTTAAGGTTATTTTTTATTAACTGTGCATATGAAATTTCCACTCAATTTAAAAATCCAAATCTTTTTAAGCTTCTTGGAAGAATTTCCTCCTGCTTATATTGTTAATTGCACTAATGAACTCTTCTAGGGTAAATTCTGGCAAACTACCCTTTTTTTTTTTTTAATCACAGAATATTCCTGTTCCCACAGAACTTTGGCACATTCTGAAGAAAATCTCTGCAGTCAATTTTTATCTCCTCTGCTTGACTGCATCTAACTGTTCATCTCTGTTATAAATGGAGCTTCAGCCCTCTGGGTCAGAGACTGACAACCCTCCTTCTTCTTCCTAACCTGTCCTACTCTCCTTCTTTTTCTGCTTTCATTTTAATTTTGGGAAATTTTAAAGTAAAAGTTTCAAAGTTGAAAGATTATAGTGAGTACCCTTATGTCCTTTAGTGCATCAGTTGTTAATGTTTTGCCTTGTTTTCTTTTCTTCCTTTTTTTTTTTTAAGAGAAGGGGTCTCTCCCTATTTTACCCAAGCTGGCCTTGAACCCCTTGCCTCAAGTGAGCTTCAACCTTAGCCTCCTGAGTAGCCAGGACTATGGCATGTACCACCGCACCTGCCTCACATTTTCTTTCTCACTGTAAATACACATTCTTATTCTTGAACCTTCTGAAAATAAGTTGCAGACATCATGAAAATGTAAAATACTTCATCATATTCTTTCTTTTAATAAGAGCATTGTCCTATAAATCTGCAATATTTTCACGCCCATGAAACTGAACACTGATACTGCATAAATCTAATATATGATCCATATTCAAAATTCTCCAGTTGTCCCCAAAATATCCTTTATAGCTGTTTATTTTTAAATCCAGGATCCAATCAAGAATTATACGTTATATGTAGTTGTCATTCTCTTTTGTTTCCTTTAATTGATTAGAGTTGCCCTTTTGTGTGTGTCTGAGTGGTGGGTGGTGGGGTGGTGTTTGTGTATGATGTGCAGTGTGTGTGTGTGTGGTGTGTCTTTCATGACACTGACATTATTAAAGAGTTCAGGCAAGTTTGTGGAATGTCCCACAATCTAGACTTTTTTACTGATTGTTTCCTCATTACGAGATACAGGTTACATTTTTTTTCCCAAGACTGCTACATGTGTGATGTTGTTTCCTTACTACTGCCTCACCTCAGGAAGCACATAATGTCTACTTGTCTCTTTTCTGATATTAGGACTGATCAGGTGTTGTCTGCCTGATCCAATCATTATCAAGTTCCATAATTCATTATTAAGCTCTGAAATTCAGGACACATACATTTATAGAGTGTGAGGCTGTGCATACGTACATTCATCCCTTAATGTTCTCAAGGAGGCCCAGGATCCCCAAAATATTATAAGCATTGCAGTCAGATGATATAGCACTAGCAAAGCATTCATCCCTTTCCATATAACAGGAGGGAGGGGAAGAAGGAAGTTTCCATGTGCAGGCAATACGTGAGAGCATGGGCAAGTGAGGATTTGTATGCTCCCTGTAGCCAGAGGTGAAATATTCAACGCTTTTATTTTTTCTCCCGTCTTCAATGACCTCCCATTTGGACCCATAGTTTATTTATAGAGAGCACACACTCCCTAATTGTCAGATGGTTTTTTTGGGAAAACTCTTAGATAGTACAGTGAGTTGTGACCCTCCAAAGGATCACAAGTACATAAACAGATACAAAGTATTTATGTGGTATTAAAATTTCATGGTGATGGTGCAAGGGAGAGATGATTAGGAAGAAAATGTCTTACACGGCTGTAATTGAGAAATACTGATCTAGAGTCATTTCCTGCTTCTTAAATTGTTCGTTTTCTCTTCCCTGGGTATTTTCTCATTTCCAAAGACCCAGAGTCTCAGAGCCAGGTTAAGTGGAAGAAACTTTGAGAGGTTTCTTAATCAATTCCTTCTATCTCTCAAACCATGCCAGTAACTTCCTTGGTGAAAAAATCTATACTCCTCTCACAGTTCTTCGGGCATGGAAATTCTATAGCATTCTTTGGTATAACCAACCCACTGAACCCTCCACAACATCTTGAATTCCATTCAACTCGAGCTGAAGTATTCTTTTTGAGTTTCAGTATATCTTTTCTAGTGTCCCACTTTTAGAAAGGTCCAAAGATGATATATAATAAGTGAAAATACAATTAATCAGAGCTTTATTTGCATATCCATTAAATATCTGAAGGCTATTACCAGTTGTGCTTCAGCCTCCTTTCCCTTGCAATTCTCCCAGGGTGGCATCCTCTACGGAGTCTTGTTGCTCCATTGTTGACCACTGATGTAACTCAACGTGAAACCTTCCCAAAGCTCTCCACATCACTCTCTGTTATGGCTGTGACCAGCAGTGAACATGAAAAGAACTTATTTCATGCCTTCTCCAAACTATATTGTTTCTTTGCTAAGTCCAGACCTGCTTTTTCTACATTTATAGGTTTTCTATTTTAATCGCCATGCAAAATTCTTTATCATACTCAATCATTTTGGTTTATCTTCCTGACTTCTTACCTTTAACATCCCTGTTAAAGATTACACTGTTGTTGTTTCAAAAAAAAAAAAAAAAAAACCTTAATTGGCAAAACATTAAGGGACTTGAATAGAATTACACTTATCTTTTTGTGCTGATTTATGTCAATCCATCATTCTGGTTATTGATGGAAGCAAATTGCTTCCTATGTTCTCTAAACCTTATGTCCCTTCCATACTCCATGAGTACCACACTGGGAGAAAACAAAAGCAAAAAGATTGTGGGAAAAGTATAGCCATTATCTTTGAGGAAATGTGTACCAAGGCACAATCATTAAAAGGAGTTGGAGGCATCATTTGGTTGACACTGTTGTCATTCTTGTTCTGATCATTTTGGACCTTGAAGAAATTGGTGATTCTCTCCTAGAATTAGACAAACAAAGTGTGTTTGGAAATAATGATTGTTTTCCTGCCTTAAAAAATATATTAACAGAAAGCTTTTATAACAGGCTGTTTCCCTCTGGACAGGTATTAATTCTGAGTAAGAATTTTCAGTGACTACATAAGGATTTGTGTAACTTATGAAGGAAGAGTCCATTTCTAATCAAATAATTCGCCTGTTTTACTAGCTTATAGTGATCTGATTTCAGAATTTTCCTGTATCTTTTTTACATACATCAGAAAAAGAAATGTTTACTATATTTTTGGTTCCATTTATGATTGTATTAAGCATTTGACTATAAGGAAAACTAACAATTAAATCAATTAGAAAAGCAACATAAAATTAAATGATATTTAGGAAATCAGTTATATGTGAGCTTGGGTATTCAAATGTCACAAATAAAAAGCATATAACCATTA)$ MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPAPAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARALDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPELAKKPPSRQKELLKRKLEQQEKGKGHTFPGKGPGEVLPPGDRAAANSSHGKDVSRPPHARKTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRFCPLE|erndeqdvslmlhltlwkkgklfppgalsgqevdhpg* 22CO004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 39 23 0 70 72 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(4) CTCATTAGGAGGATGCCTGGGGCTGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTC?TCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCG(ACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 22CO004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 21 105 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) GCaGCaGCaGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGT(GAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 22CO004 ENSG00000248826.2(170748),ENSG00000250049.7(67320) ENSG00000145723.17 ./+ -/- chr5:92015277 chr5:103097781 intergenic CDS/splice-site inversion 10 6 0 37 62 high . . . . . . ENSG00000145723.17 . ENST00000399004.7 downstream downstream . ATGTCCTTAGCCTCATTCAAGCATTCCATGTAGAGATACTACTTGTCTGGGATGGAGGATCTTGCATTTGAATTAAGGAGACATAACTACTAATGAGTAACAATGTGTGTCAAG|ATCAATATTGAACTGTACAGATTGTTTGGCATAAAGCAAATTGTAATTTCTCACACCTCTGGAACTGTTAACCCAACGGAAAGTACACCTAACACAATCAAAGCATTTCTCTCCAAACACTGTGCTGACCACCCAAACAATTGGGATGATCACCTATCAGCTGTTTCATTTGCCTTCAATGTAACTCACTTG___GAACCTACTAAAAATACACCATATTTTCAAATGTTTAGTCG(AAATCCTTATATGCCTGAGACTTCAGATAGTCTTCATGAAGTGGATGGTGATAATACAAGTATGTTTGCCAAAATTCTAGATGCAATTAAAGAAGCTGATAAAATAATGGAGAATAAGACAACTTCACTGGGCCAG___ATGGAGAACAACAATTTGGATGAACTAAATAAAAGCAAGATCATTGTTAAAAAGAAACCCAAACAATTAAATCCATTTCATTTAAAAGTGGGTCATGAAGTTTTAAGACAAAGGAAAAATTGGTGGAAGGATGGTCGTTTTCAGTCTGAATGGGTTGGTCCTTGTGTCATAGACTATATTACAGAAAGTGGATGTGCTGTCCTGAGAGACAACACTGGGGTTAGACTGAAAAGACCTATCAAAATGTCCCACCTTAAGCCCTACATAAGAGAATCCAGTGAACAAG___AAAGTCTTTATCTCTTGCAAGGTTCAGTAGTGGCAGATCATGACTACATTGGATTGCCTGAAATTCCGATTGGAGCATATCAAGCAAATATTCTGGTGGAAGATGCAACTATTGGTATAGTCGATAATGAATTACTGACATCAAGCAAGGATCGTGAACTATTAGAATATAGAAATACGAAAATCTCTCCATTGATAGACGATCATAGTTCTCTTGAAAAGCAGACTTTCAGTCTGTTGGACTCTTCAAACCAGGTTCTTGAATACTTAAGTTAGTAAATACCAAAATTTATTTAAATTGTTTGTTTAGAATATAAATTCTTAATGATATCTTATTCATTAAAAACGTTGTATAGAAGAAGTATCTTGACACATTCTTAATGACTATATTCTGAAGGTTTATTTTATAGTTCTTATCTAAAATTATGCCACATTTGAATATCAGTATACGTACATATGAAGGCAAAGGAAGCATGTAATATATAGAATTCACTTTTTCTTCTAAAAAGAGAACAGGCAAAGCACCCCTACTTCTTGGGAAATAAATTCCAGCCCAAATCTCTCAAACCTTTGTATGGTTTTGGCACCGTTTCTAAGTTTTAAATTTTCTGAAATTCTCTACCATTTAAACAGTAAGTTTGAACTACCTTGAATGGAATTGATAAATACTGAATCAACTGTAACAATGAATGAAATGAAGCTTCTTTCTGTTTCATTAGAACTTCTAAAAACAAGATTGTATGAAAAAATATAGGGTTATTTAATAGGCTTTCACAGAATATTGGTAATTTCAAATTATCTAATTGGTTAGATAGGGTCAGGATTAGGGTCTGAAACTATGTATTGGTTGGGAAACAATTTGTTTATTTTCATACTATATATTAAAGATAAAACCATCGACCAGGCATGGTGGCCCACACCTGTAATCCCAGCGCTTTGGGAAGCCAAGGCAGGATGATCACTTGACCCCAGGAGTTCGAGACCAGCCTGGGCAACACAGGGAGACCCTATCTCTACAGAAAAATGTTTAAAAATTAGCCAGGTGTGGTGGCACATGCCTGCGGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGCATTGCTTGACCCCAGGAGGTCGAGGCTGCAGTGAGCCGCGCTCATGCCACAGCTCTCCAGCCTGGGCGACAGGGCAAGACCTGTCTCAACAACAACAACAAAAGTATCCGTTAAGAATTTTTTCTGCAATCATAAAATCATAAAATAACCAGTATCAAAGATTTTAAACTGTAATTTCTATGATATTCATAAATATAAAATAAATATTGTTCAATAAATATTTATTCTAAAGCACTATGAAAAGAACTGTGGGAAAAGTAAAAGATGAGTCAAACGTGTACCTCATTCTTATAAAGGACTTACTGTCTGGTAGGTAATAAACTATGTAAGCCATGTACAGCACAAGTTAAGGCATGCTAAATTGCAGAAGACAGGTGTAGATAATGTACTTAGGGAGGCAAAAAGAGAGAAGTTGTTTTTACATAGGAAATTTGTGTTTATCCTTATGGAAGAAGGATCATTTAAGCTTGACCTTGAAGAATGTATAGGATTTGGTAAATGGATACAAAAGAATTAGGGGAGAAGTAATACACAGAAATGGAAAAGTATTGTAATGATTCATAAAAAGGCAGGGCTTCTTGTTGTCTACACTGCCTCGGGTATAAAGTGAAGAAGCAAGATAATGAGGGATAAAGCTGAAAAGGTAAGTAGGAAACCTTATGGAGAGCTTTGAATACTATTAAGGATTGATATGTGCCCCTCCCAAAATTTGTGTTGAAGTCTTAACCCCCACCACCTCAAAATGTGACCTTATTTGGAAATGAGGTTGTTGCAAGTGTAATTAGTTGAGATCATATTTCAATAGGGTGGGCTCTAATACAGTATTACTGGTGTTCTGATAAAAGGGGAAAATTTGAACACAGACTCAAGGAGAATGCCATGTGAAGATAAAGGCAGAGTTTAAGATTATGTTTCTATATGCCAAGAAATGACAGAGATTGCCAGAAAACTACCAGAAGTTAGGGGAGAGGCATTGAATACATTTTTCCTCATTCCTCAGAAGACCAACCCTGTCAATACCTTATCTCAGACTTTTGCCTCCAGAACTGTGAGACAATAAAATTCTATTGTTTCAGCCA)$ . 22CO004 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 9 0 23 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),inconsistently_clipped(1),mismappers(1) CCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCC(ACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 22CO004 ENSG00000120137.7 ENSG00000248826.2(170635),ENSG00000250049.7(67433) -/- ./+ chr5:168579256 chr5:92015164 CDS/splice-site intergenic inversion 8 3 0 113 46 high out-of-frame . . . . ENSG00000120137.7 . ENST00000239231.7 . upstream upstream . ^GCGCGGCCCAGCCACCTCCGGAGTCGCCGCCTCTGCTCTCAGTGCCCCGGATCGGAGGCCGTCCATCGCCCCTCGGGCCGACGCCATGAAGATCAAAGATGCCAAGAAACCCT|ATGTCCTTAGCCTCATTCAAGCATTCCATGTAGAGATACTACTTGTCTGGGATGGAGGATCTTGCATTTGAATTAAGGAGACATAACTACTAATGAGTAACAATGTGTGTCAAG MKIKDAKKP|yvlsliqafhveillvwdggsci* 22CO004 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 3 0 135 26 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATA)GAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAtCTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEdLRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 22CO004 ENSG00000120137.7 ENSG00000145723.17 -/- -/- chr5:168579256 chr5:103097781 CDS/splice-site CDS/splice-site deletion 2 2 0 113 62 high out-of-frame . . . . ENSG00000120137.7 ENSG00000145723.17 ENST00000239231.7 ENST00000399004.7 upstream downstream . ^GCGCGGCCCAGCCACCTCCGGAGTCGCCGCCTCTGCTCTCAGTGCCCCGGATCGGAGGCCGTCCATCGCCCCTCGGGCCGACGCCATGAAGATCAAAGATGCCAAGAAACCCT|ATCAATATTGAACTGTACAGATTGTTTGGCATAAAGCAAATTGTAATTTCTCACACCTCTGGAACTGTTAACCCAACGGAAAGTACACCTAACACAATCAAAGCATTTCTCTCCAAACACTGTGCTGACCACCCAAACAATTGGGATGATCACCTATCAGCTGTTTCATTTGCCTTCAATGTAACTCACTT(G___GAACCTACTAAAAATACACCATATTTTCAAATGTTTAGTCGAAATCCTTATATGCCTGAGACTTCAGATAGTCTTCATGAAGTGGATGGTGATAATACAAGTATGTTTGCCAAAATTCTAGATGCAATTAAAGAAGCTGATAAAATAATGGAGAATAAGACAACTTCACTGGGCCAG___ATGGAGAACAACAATTTGGATGAACTAAATAAAAGCAAGATCATTGTTAAAAAGAAACCCAAACAATTAAATCCATTTCATTTAAAAGTGGGTCATGAAGTTTTAAGACAAAGGAAAAATTGGTGGAAGGATGGTCGTTTTCAGTCTGAATGGGTTGGTCCTTGTGTCATAGACTATATTACAGAAAGTGGATGTGCTGTCCTGAGAGACAACACTGGGGTTAGACTGAAAAGACCTATCAAAATGTCCCACCTTAAGCCCTACATAAGAGAATCCAGTGAACAAG___AAAGTCTTTATCTCTTGCAAGGTTCAGTAGTGGCAGATCATGACTACATTGGATTGCCTGAAATTCCGATTGGAGCATATCAAGCAAATATTCTGGTGGAAGATGCAACTATTGGTATAGTCGATAATGAATTACTGACATCAAGCAAGGATCGTGAACTATTAGAATATAGAAATACGAAAATCTCTCCATTGATAGACGATCATAGTTCTCTTGAAAAGCAGACTTTCAGTCTGTTGGACTCTTCAAACCAGGTTCTTGAATACTTAAGTTAGTAAATACCAAAATTTATTTAAATTGTTTGTTTAGAATATAAATTCTTAATGATATCTTATTCATTAAAAACGTTGTATAGAAGAAGTATCTTGACACATTCTTAATGACTATATTCTGAAGGTTTATTTTATAGTTCTTATCTAAAATTATGCCACATTTGAATATCAGTATACGTACATATGAAGGCAAAGGAAGCATGTAATATATAGAATTCACTTTTTCTTCTAAAAAGAGAACAGGCAAAGCACCCCTACTTCTTGGGAAATAAATTCCAGCCCAAATCTCTCAAACCTTTGTATGGTTTTGGCACCGTTTCTAAGTTTTAAATTTTCTGAAATTCTCTACCATTTAAACAGTAAGTTTGAACTACCTTGAATGGAATTGATAAATACTGAATCAACTGTAACAATGAATGAAATGAAGCTTCTTTCTGTTTCATTAGAACTTCTAAAAACAAGATTGTATGAAAAAATATAGGGTTATTTAATAGGCTTTCACAGAATATTGGTAATTTCAAATTATCTAATTGGTTAGATAGGGTCAGGATTAGGGTCTGAAACTATGTATTGGTTGGGAAACAATTTGTTTATTTTCATACTATATATTAAAGATAAAACCATCGACCAGGCATGGTGGCCCACACCTGTAATCCCAGCGCTTTGGGAAGCCAAGGCAGGATGATCACTTGACCCCAGGAGTTCGAGACCAGCCTGGGCAACACAGGGAGACCCTATCTCTACAGAAAAATGTTTAAAAATTAGCCAGGTGTGGTGGCACATGCCTGCGGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGCATTGCTTGACCCCAGGAGGTCGAGGCTGCAGTGAGCCGCGCTCATGCCACAGCTCTCCAGCCTGGGCGACAGGGCAAGACCTGTCTCAACAACAACAACAAAAGTATCCGTTAAGAATTTTTTCTGCAATCATAAAATCATAAAATAACCAGTATCAAAGATTTTAAACTGTAATTTCTATGATATTCATAAATATAAAATAAATATTGTTCAATAAATATTTATTCTAAAGCACTATGAAAAGAACTGTGGGAAAAGTAAAAGATGAGTCAAACGTGTACCTCATTCTTATAAAGGACTTACTGTCTGGTAGGTAATAAACTATGTAAGCCATGTACAGCACAAGTTAAGGCATGCTAAATTGCAGAAGACAGGTGTAGATAATGTACTTAGGGAGGCAAAAAGAGAGAAGTTGTTTTTACATAGGAAATTTGTGTTTATCCTTATGGAAGAAGGATCATTTAAGCTTGACCTTGAAGAATGTATAGGATTTGGTAAATGGATACAAAAGAATTAGGGGAGAAGTAATACACAGAAATGGAAAAGTATTGTAATGATTCATAAAAAGGCAGGGCTTCTTGTTGTCTACACTGCCTCGGGTATAAAGTGAAGAAGCAAGATAATGAGGGATAAAGCTGAAAAGGTAAGTAGGAAACCTTATGGAGAGCTTTGAATACTATTAAGGATTGATATGTGCCCCTCCCAAAATTTGTGTTGAAGTCTTAACCCCCACCACCTCAAAATGTGACCTTATTTGGAAATGAGGTTGTTGCAAGTGTAATTAGTTGAGATCATATTTCAATAGGGTGGGCTCTAATACAGTATTACTGGTGTTCTGATAAAAGGGGAAAATTTGAACACAGACTCAAGGAGAATGCCATGTGAAGATAAAGGCAGAGTTTAAGATTATGTTTCTATATGCCAAGAAATGACAGAGATTGCCAGAAAACTACCAGAAGTTAGGGGAGAGGCATTGAATACATTTTTCCTCATTCCTCAGAAGACCAACCCTGTCAATACCTTATCTCAGACTTTTGCCTCCAGAACTGTGAGACAATAAAATTCTATTGTTTCAGCCA)$ MKIKDAKKP|yqy* 22CO004 ENSG00000152422.16 ENSG00000227762.4(13505),ENSG00000249515.1(1316) +/+ ./+ chr5:83195936 chr5:99548116 CDS/splice-site intergenic deletion 1 2 0 69 4 high out-of-frame . DNA_double-strand_break_repair_and_V(D)J_recombination_protein_XRCC4(100%)| . . ENSG00000152422.16 . ENST00000282268.7 . downstream upstream . ^(CGGGATTTAGATCACGTCCCGCAGGCCGGCGGAAGTAGCTGATACTCTCATTGGTTGCAAAACCTTGATCTGTGAAAGCGGGCGTTTTGGAAGATACCGGAAGTAGAGTCACGGAGAGGTAGGATCCGGAAGTGGGGCTGCCTCTTTAAATAACAAAAATCTGAG___GTATTAAGAAATGGAGAGAAAAATAAGCAGAATCCACCTTGTTTCTGAACCCAGTATAACTCATTTTCTACAAGTATCTTGGGAGAAAACACTGGAATCTGGTTTTGTTATTACACTTACTGATGGTCATTCAGCATGGACTGGGACAG___TTTCTGAATCAGAGATTTCCCAAGAAGCTGATGACATGGCAATGGAAAAAGGGAAATATGTTGGTGAACTGAGAAAAGCATTGTTGTCAGGAGCAGGACCAGCTGATGTATACACGTTTAATTTTTCTAAAGAGTCTTGTTATTTCTTCTTTGAGAAAAACCTGAAAGATGTCTCA___TTCAGACTTGGTTCCTTCAACCTAGAGAAAGTTGAAAACCCAGCTGAAGTCATTAGAGAA)CTTATTTGTTATTGCTTGGACACCATTGCAGAAAATCAAGCCAAAAATGAGCACCTGCAGAAAGAAAATGAAAGGCTTCTGAGAGATTGGAATGATGTTCAAGGACG|ATGCTATTAGAACTTTACAGATGAAGAAACTGAGGAAATACAGCTAACAAATGACAGAGCCAAGCTGGATCGCTGTCTCTTCACACTGTACTTTACTTATTTTTAGTTAGCACAGTAGCATATTACCTTCCCTCTCAAGACTGACTCACAGGTGTTGAGGACAATGAGGGCACTGGCCTAGAACTTCTCCAAGAGTCCC MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGPADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQGr|cy* 22CO006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 14 1 39 43 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(2) GGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCG(CTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 22CO006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 5 0 149 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___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 22CO006 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 6 8 0 18 86 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(1) GTTAGGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACG(GATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 22CO006 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 4 0 17 18 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2) CAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGA(AGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 22CO006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 11 0 17 99 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) CGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGA(ACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 22CO006 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 2 9 1 25 15 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCT)GTCAGACAGCCCAAGCATGGGGCGATACAGGaCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGA...GATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGGAAGAAGAGCCAGCCTAAACTGTCCACTTTCATGCC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRtVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgeaehm 22CO006 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 23 15 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCAC(CCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 22CO006 ENSG00000250358.6(65443),ENSG00000134982.17(30003) ENSG00000134982.17 ./+ +/+ chr5:112707882 chr5:112754873 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 13 20 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 . CGGGTCCTGGAGCACCGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGGGCGGCGCTCGTACTTCTGGCCACTGGGCGAGCGTCTGGCAG|GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGG(AAGTATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG___GGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAG___GTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGGCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA___TGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAG___GGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG___GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAG___GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAG___GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG___GCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAGGAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAATGAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTGAAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGATTGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCTGCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCAGGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAGATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACTGGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAACATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGCCCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCAGAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCTAGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGTTCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAACAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGACTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCTTCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAGTCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCTTCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAAACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGAAGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCAATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGAGTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCCAGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAAAGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTTTCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCAAAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGAATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCCCCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAATCAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAATCGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACCCCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGAGTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCTCGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACTGACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTGACATCTGTTTAAAAGAGAGGAAGAATGAAACTAAGAAAATTCTATGTTAATTACAACTGCTATATAGACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATTTTGTAAATAGGTTTGATTCTTGTTAGAGGGTTTTTGTTCTGGAAGCCATATTTGATAGTATACTTTGTCTTCACTGGTCTTATTTTGGGAGGCACTCTTGATGGTTAGGAAAAAAATAGTAAAGCCAAGTATGTTTGTACAGTATGTTTTACATGTATTTAAAGTAGCATCCCATCCCAACTTCCTTTAATTATTGCTTGTCTTAAAATAATGAACACTACAGATAGAAAATATGATATATTGCTGTTATCAATCATTTCTAGATTATAAACTGACTAAACTTACATCAGGGAAAAATTGGTATTTATGCAAAAAAAAATGTTTTTGTCCTTGTGAGTCCATCTAACATCATAATTAATCATGTGGCTGTGAAATTCACAGTAATATGGTTCCCGATGAACAAGTTTACCCAGCCTGCTTTGCTTTACTGCATGAATGAAACTGATGGTTCAATTTCAGAAGTAATGATTAACAGTTATGTGGTCACATGATGTGCATAGAGATAGCTACAGTGTAATAATTTACACTATTTTGTGCTCCAAACAAAACAAAAATCTGTGTAACTGTAAAACATTGAATGAAACTATTTTACCTGAACTAGATTTTATCTGAAAGTAGGTAGAATTTTTGCTATGCTGTAATTTGTTGTATATTCTGGTATTTGAGGTGAGATGGCTGCTCTTTTATTAATGAGACATGAATTGTGTCTCAACAGAAACTAAATGAACATTTCAGAATAAATTATTGCTGTATGTAAACTGTTACTGAAATTGGTATTTGTTTGAAGGGTCTTGTTTCACATTTGTATTAATAATTGTTTAAAATGCCTCTTTTAAAAGCTTATATAAATTTTTTTCTTCAGCTTCTATGCATTAAGAGTAAAATTCCTCTTACTGTAATAAAAACAATTGAAGAAGACTGTTGCCACTTAACCATTCCATGCGTTGGCACTTATCTATTCCTGAAATTTCTTTTATGTGATTAGCTCATCTTGATTTTTAATATTTTTCCACTTAAACTTTTTTTTCTTACTCCACTGGAGCTCAGTAAAAGTAAATTCATGTAATAGCAATGCAAGCAGCCTAGCACAGACTAAGCATTGAGCATAATAGGCCCACATAATTTCCTCTTTCTTAATATTATAGAATTCTGTACTTGAAATTGATTCTTAGACATTGCAGTCTCTTCGAGGCTTTACAGTGTAAACTGTCTTGCCCCTTCATCTTCTTGTTGCAACTGGGTCTGACATGAACACTTTTTATCACCCTGTATGTTAGGGCAAGATCTCAGCAGTGAAGTATAATCAGCACTTTGCCATGCTCAGAAAATTCAAATCACATGGAACTTTAGAGGTAGATTTAATACGATTAAGATATTCAGAAGTATATTTTAGAATCCCTGCCTGTTAAGGAAACTTTATTTGTGGTAGGTACAGTTCTGGGGTACATGTTAAGTGTCCCCTTATACAGTGGAGGGAAGTCTTCCTTCCTGAAGGAAAATAAACTGACACTTATTAACTAAGATAATTTACTTAATATATCTTCCCTGATTTGTTTTAAAAGATCAGAGGGTGACTGATGATACATGCATACATATTTGTTGAATAAATGAAAATTTATTTTTAGTGATAAGATTCATACACTCTGTATTTGGGGAGGGAAAACCTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGGTGCCTTGAAAATCACATCAAGTAGTTAATTATCTACCCCTTACCTGTGTTTATAACTTCCAGGTAATGAGAATGATTTTTTTTAAAGCTAAAATGCCAGTAAATAAAAGTGCTATGACTTGAGCTAAGATATTTGACTCCAATGCCTGTACTGTGTCTACTGCACCACTTTGTAAACACTTCAATTTACTATCTTTGAAATGATTGACCTTTAAATTTTTGCCAAATGTTATCTGAAATTGTCTATGAATACCATCTACTTCTGTTGTTTTCCCAGGCTTCCATAAACAATGGAGATACATGCA)$ . 22CO006 ENSG00000005483.21 ENSG00000187416.12 +/+ +/+ chr7:105014535 chr7:104906187 5'UTR/splice-site CDS/splice-site duplication 3 1 0 73 9 high . . . . . ENSG00000005483.21 ENSG00000187416.12 ENST00000311117.8 ENST00000424859.6 downstream upstream mismappers(1) ^(AGAGCGAGAGGCAGTGACACTGAGCGGGCGCAGGGGGCCGAGTCGGAGACCGTGCCGGAGTTCGGGAGCGGCAACAGAGTGGGCATAGACACTCCGAGCAGCCTCGCCGTCGTCTCTGCGTTCCTGTTGACTGCCTGGCTGCCCCCTCCCCTACTCCTCGGTTCCTGGTGAAGAGGCTGCGCGCTGCTGTTTGGGGAGGGGGTGTGTGGAGCCGGGTCCTGTGTCCGCAGT)GGCTGCTGTCGGGGGGTCGCCTGTTCGCGGAGGTGCGGAGAGACTCCTTGGGGGTCGAGCACATAACGGGGTTCGGGTGTCTCGTGTGTGAACATCACAG|TTCTGCTAAGCCAATATTCTCTAGAATGAGCACAAAACAAATCGAATAACAGCTAAACAAATCGAATAACAGCTAAACGAATCGAATAACAGCTTTTGTACATCAACATCAAGAAGGAATACGCCT(GAGAGAGATCAGAGTATATAGATGAATATGAACAAGAATGGAACATTCACTTGTCAACGCACTTTCTAAATCTAGATCAGCAGAGATGGGAGTGATTTTCTGGAAAGAGATGTGATCATGGATTAAACACCAGCTCATTGGAAACTCATTGGATGAGATCAGAAAACGTTCATGAAAAATCATATTCAGGAAATAAGGAAGAGGAATATAAATGCTCTAGAGTTAACATGTAAAATATATACGTACTGAGGTTTGTAAACTGTCCTTTTTAAATCAAACTGAAAACAAAAAGCTTTAACCTTTCAACAGAATTTTTAAAAAGGCAGTTAGTTCTAAATTATTCCTATCTCAATAGCCAAGAGGCTGATCAAGCGTCATTTATTGAGGAAGCATCTTAGAAAATGCCTCTGAATGTTTTCATAGGAGCCGTGACCTTTGGTTCTTCATCTCTACCATTCATTTACTTCACTGTGTAATTAGTTACAACCACTCAGTTATTAAGAGACGTAACGCTTCAAACTTTTTACCAAGTCTGTGTTCTGTTTAATCTGTCCATACAAGTTATTACTGAGAAAGTGTTTATGCCATATACTATTACTCCATCAAGCTGTATATTACAGGAAGTACATCTTTACATCATAGGTTCCCAAGCAACATAGATTTCCCTATCTTTCAGGAAACAGCATCAAGGAACTCTGAAAAATATAGAAAAAGTTCATTTTCACCTTGGAAGCTCACGTGTAATATTATAGGCTACTATCAAATAAACACTTTTTTTCTAATTCTCCCTAGTATATGCATAGGAATTTAATATACTTTATAAATAAGTATCTAAAATGTCTCCTACTTTTTTCCTATTTCTTTGCCATACATGTTATCAGAAATCCATGTCTTCTATTTCCCTTACTGATGGGCACTCA)$ . 24CO005 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 22 15 2 60 51 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(8),inconsistently_clipped(1) AGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCA(ACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 24CO005 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 11 6 0 232 23 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(1),inconsistently_clipped(1),mismatches(1) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCT)GTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGgGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 24CO005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 2 11 2 29 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTT)CACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 24CO005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 4 0 16 12 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) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAG(GATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 24CO005 ENSG00000153283.13 ENSG00000153283.13(13155),ENSG00000240891.8(9149) +/+ ./+ chr3:111649858 chr3:111665527 3'UTR intergenic deletion/read-through 2 9 0 23 16 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___GTATTGTGGTCAATAAGCCCAAAGATGGAATGTCCTGGCCAGTGATTGTAGCAGCTTTACTCTTTTGCTGCATGATATTGTTTGGTCT)TGGAGTGAGAAAATGGTGTCAGTACCAAAAAGAAAT___AATGGAAAGACCTCCACCTTTCAAGCCACCACCACCTCCCATCAAGTACACTTGCATTCAAGAGCCCAACGAAAGTGATCTGCCTTATCATGAGATGGAGACCCTCTAGTCTCGTGAGACTTTGCCCCATGGCAGAACTCTGCTGGAATCCTATTGAGAAG|GTATTGGCTGGGATCCACCAAAACTTCAATCAATTTTCCTTTCTTAAGGAGATAATTGGAGCCCTTTGATTTTCCCAAAACTCCAGAGCAAACTTACCCTCTCACCGTTGAACCATTTCATATCAAAGAAAACTAAGCTGTGTTTCTCCAGACTCCACCCAAGAAAGAGACTTTCATTCC . 24CO005 ENSG00000105738.11 ENSG00000150403.18 +/+ +/+ chr19:37932692 chr13:113534045 intron CDS/splice-site translocation 0 5 0 2 113 medium . . . . . ENSG00000105738.11 ENSG00000150403.18 . ENST00000434316.7 downstream upstream . CTGACAGCCACCTGCCCACTTTGTGATCAGAGCCGTGTTCGGGGAGTCTTTCAG|CATTGTCGTGGAAGTTCTCCGAATCCTGGTTTTGATTGGTCAGATTCTTTTTTCACTAGCGGCGGTTTTTCTTTTATGTCTTGTTATAAAGAAGTATCTCATTGGACCCTATTATCGGAAGCTGCACATGGAAAGCAAGGGGAACAAAGAAATCCTGATCTTGGGAATATCTGCC(TTTATCTTCTTAATGTTAACG___GTCACGGAGCTGCTGGACGTCTCCATGGAGCTGGGCTGTTTCCTGGCTGGAGCGCTCGTCTCCTCTCAGGGCCCCGTGGTCACCGAGGAGATCGCCACCTCCATCGAACCCATCCGCGACTTCCTGGCCATCGTTTTCTTCGCCTCCATAG___GGCTCCACGTGTTCCCCACGTTTGTGGCGTACGAGCTCACGGTGCTGGTGTTCCTCACCTTGTCAGTGGTGGTGATGAAG___TTTCTCCTGGCGGCGCTGGTCCTGTCTCTCATTCTGCCGAGGAGCAGCCAGTACATCAAGTGGATCGTCTCTGCGGGGCTTGCCCAGGTCAGCGAGTTTTCCTTTGTCCTGGGGAGCCGGGCGCGAAGAGCGGGCGTCATCTCTCGGGAG___GTGTACCTCCTTATACTGAGTGTGACCACGCTCAGCCTCTTGCTCGCCCCGGTGCTGTGGAGAGCTGCAATCACGAGGTGTGTGCCCAGACCGGAGAGACGGTCCAGCCTCTGATGGCTCGGAGATGATGGACCGTGGAAGGGAAGCGTCTGTGGGGAGTGAGCGCTTAGATGGCCAGCAGCTGCTCCTTCTGGGAAGCTCGCACCTTGGCAACAGAACAGCCCTCTAGCAGAGCGTCAGTGCAGTCGTGTTATCCCGGCTTTTACAGAATATTCTTGTCCTATTTTAGAATTTTCCGGAGTAGTTTATTTGCAGTCTGTTGATTATGTGCAGTAGACCCGGGACACTGCGTTTTACCGATCACCTTGAATGTGGTGCCTGGATGTGCCTTTTTTTTTTTTCCCTGAAATTATTATTAATTTTCTATTGTGAGTTCATCAGTTCATAGTTTTTTTAGTAAAGAAGCAAAATTAAAAGGCTTTTAAAAATGTACAACTTCAGAATTATAATCTGTTAGTCAAATATTTGTTATTAAACATTTCTGTAATATGAAGTTGTAATCCTGGCCGTGAGCTTGGAAGCTTACTTTTGATTCTTAAAGCCTATGTTTTCTAAAATGAGACAAATACGGATGTCTATTTGCCTTTTATTGTAACTTTTAAATGAAATAATTTCATGTCAATTTCTATTAGATATATCACTTAAAATATTTGGTTTTAAATCACAAGAATATGTATTCTTTAATAAAGATAATTTATGATCATGGTATAATTAATTGAAATTTATTAAAATCTGTTTTTATTAA)$ . 24CO005 ENSG00000105738.11 ENSG00000150403.18 +/+ +/+ chr19:37907358 chr13:113539357 5'UTR/splice-site CDS/splice-site translocation 0 2 0 0 76 medium . . . . . ENSG00000105738.11 ENSG00000150403.18 ENST00000222345.11 ENST00000434316.7 downstream upstream . ^(ACAGTTCCCAGGAGGACTCGCGCGAAGCGGCTTGGAAGTGGGCAGCCTGGAAGTCACTCGGGCCACCGGAGCTGGCGGCGTCTCCAGCGAGCGGCGCGGAGCTGGACGCCGCGATCGT)GGGGCCCGCGAGGCGGGCAGCCGGGGCGTCCAG|GTCACGGAGCTGCTGGACGTCTCCATGGAGCTGGGCTGTTTCCTGGCTGGAGCGCTCGTCTCCTCTCAGGGCCCCGTGGTCACCGAGGAGATCGCCACCTCCATCGAACCCATCCGCGAC(TTCCTGGCCATCGTTTTCTTCGCCTCCATAG___GGCTCCACGTGTTCCCCACGTTTGTGGCGTACGAGCTCACGGTGCTGGTGTTCCTCACCTTGTCAGTGGTGGTGATGAAG___TTTCTCCTGGCGGCGCTGGTCCTGTCTCTCATTCTGCCGAGGAGCAGCCAGTACATCAAGTGGATCGTCTCTGCGGGGCTTGCCCAGGTCAGCGAGTTTTCCTTTGTCCTGGGGAGCCGGGCGCGAAGAGCGGGCGTCATCTCTCGGGAG___GTGTACCTCCTTATACTGAGTGTGACCACGCTCAGCCTCTTGCTCGCCCCGGTGCTGTGGAGAGCTGCAATCACGAGGTGTGTGCCCAGACCGGAGAGACGGTCCAGCCTCTGATGGCTCGGAGATGATGGACCGTGGAAGGGAAGCGTCTGTGGGGAGTGAGCGCTTAGATGGCCAGCAGCTGCTCCTTCTGGGAAGCTCGCACCTTGGCAACAGAACAGCCCTCTAGCAGAGCGTCAGTGCAGTCGTGTTATCCCGGCTTTTACAGAATATTCTTGTCCTATTTTAGAATTTTCCGGAGTAGTTTATTTGCAGTCTGTTGATTATGTGCAGTAGACCCGGGACACTGCGTTTTACCGATCACCTTGAATGTGGTGCCTGGATGTGCCTTTTTTTTTTTTCCCTGAAATTATTATTAATTTTCTATTGTGAGTTCATCAGTTCATAGTTTTTTTAGTAAAGAAGCAAAATTAAAAGGCTTTTAAAAATGTACAACTTCAGAATTATAATCTGTTAGTCAAATATTTGTTATTAAACATTTCTGTAATATGAAGTTGTAATCCTGGCCGTGAGCTTGGAAGCTTACTTTTGATTCTTAAAGCCTATGTTTTCTAAAATGAGACAAATACGGATGTCTATTTGCCTTTTATTGTAACTTTTAAATGAAATAATTTCATGTCAATTTCTATTAGATATATCACTTAAAATATTTGGTTTTAAATCACAAGAATATGTATTCTTTAATAAAGATAATTTATGATCATGGTATAATTAATTGAAATTTATTAAAATCTGTTTTTATTAA)$ . 24CO005 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 2 1 0 300 73 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream duplicates(2) ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCT)GGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGACAACTGGATCAGTTTCATTAAAAA . 24CO005 ENSG00000106443.16 ENSG00000284418.2 +/+ -/+ chr7:11042814 chr9:23173286 CDS/splice-site intron translocation/5'-5' 2 0 0 160 1 medium . . PHD-finger(100%),PHD-zinc-finger_like_domain(100%)| . . ENSG00000106443.16 ENSG00000284418.2 ENST00000634607.1 . downstream upstream mismatches(1) ^(CTTTCCCTATTGTCTGAGGCAGCCGCCCTCGCGCTGTGCAATTTCTGGTCTTTCGTTGCTTCTGGTCCAGGCTAATAAAGTTTTTCTTTCTTTAATTTTTTTTCTTCTAGTTTTAACGGGAGAAATTAACTCCCCGGGGCCGCCGGGTTGACTGCGCTGCCTGGGCCGGAGGTCTTCTCCGGCCAGGGAGCGCTGTGGGAAGGGGCTCGAGCGGCCAGGGCCAGGCGAGGCCGGGGGGGCGGGGGGTTAGGGGACCGCGGGGCTACTCTTGGGAGCGCCCCTGTCCGGCTGGCTGCGCGCCGGTTTTAAATAGCATCTTTCGGACTTGTCTTCGCGGCCCCAGTCCCCGACCTCGGCGCTGCCTGGGCTCCTGCAGCCTCTCCCTAAGTCTTCTCCAAACGACCACCTCACGGATTCCTTA___TGGATCGCAGCTCCAAGAGGAGGCAGGTGAAGCCTTTGGCAGCTTCTCTGCTGGAAGCTCTTGATTATGATAGTTCAGATGACAGTGATTTTAAAGTTGGAGATGCCTCAG___ATTCTGAAGGGAGTGGTAATGGAAGTGAAGATGCTTCAAAGGACAGTGGAGAAGGTTCCTGTAGTGATTCTGAAGAAAATATTTTAGAAGAAGAACTGAATGAAGATATTAAAGTAAAAGAAGAACAACTTAAAAATTCTGCAGAGGAAGAAGTACTATCATCAGAAAAACAATTAATTAAAATGGAAAAGAAGGAAGAAGAAGAAAATGGAGAAAGACCTAGAAAGAAAAAGGAGAAAGAGAAGGAAAAAGAAAAGGAAAAGGAGAAAGAGAAGGAAAGAGAGAAGGAAAAAGAAAAAGCAACAGTATCTGAGAATGTGGCTGCTTCTGCTGCTGCCACCACACCAGCCACAAGTCCTCCTGCTGTTAACACATCCCCTTCTGTTCCCACTACGACAACCGCTACAGAGGAACAAGTCAGCGAGCCAAAAAAATGGAACCTTCGACGAAACCGACCACTTCTGGATTTTGTGTCCATGGAAGAGCTGAATGACATGGATGACTATGACAGTGAGGATGACAATGATTGGCGACCTACTGTAGTAAAGAGAAAAGGGAGATCTGCGTCTCAGAAAGAGGGAAGTGATGGAGACAATGAGGATGATGAAGATGAGGGAAGCGGGAGTGATGAAGACGAGAATGATGAAGGCAATGATGAAGATCATAGTAGCCCTGCCAGTGAAGGGGGTTGCAAGAAGAAGAAGAGTAAAGTTCTTAGCAGAAACAGTGCTGATGATGAGGAACTGACCAATGATAGCCTGACCCTATCTCAAAGCAAGAGTAATGAG___GACTCGCTGATTCTTGAGAAGAGTCAAAACTGGAGCTCTCAAAAAATGGACCATATTCTGATTTGCTGTGTTTGTCTGGGAGATAATAGTGAGGACGCTGATGAAATAATTCAGTGTGACAATTGTGGCATTACAGTCCATGAAG___GTTGTTATGGAGTTGATGGAGAGAGTGACTCTATTATGAGTTCAGCTTCTGAAAACTCCACTGAACCTTGGTTTTGTGATGCCTGTAAATGTGGTGTTTCTCCTAGCTGTGAACTGTGTCCTAATCAGGATGGAATTTTCAAGGAGACAGATGCTGGAAG___ATGGGTTCATATTGTTTGTGCCCTGTATGTTCCTGGAGTAGCCTTTGGAGATATTGACAAATTACGACCAGTAACACTAACGGAAATGAACTATTCCAAATATGGTGCCAAG___GAGTGTAGCTTTTGTGAAGACCCTCGCTTTGCTAGAACTGGGGTTTGCATTAGCTGTGATGCAGGGATGTGCAGAGCCTATTTCCATGTGACCTGTGCTCAAAAGGAAGGTCTGCTTTCAGAGGCAGCGGCGGAAGAG___GATATAGCAGATCCATTCTTTGCTTATTGTAAGCAACATGCAGATAGGTTAGACAGAAAGTGGAAGAGAAAAAACTACTTGGCTCTACAGTCCTATTGTAAAATGTCTTTGCAAGAGAGAGAGAAGCAACTATCACCAGAAGCACAG___GCAAGGATCAATGCCCGGCTTCAGCAGTATCGTGCCAAAGCAGAACTAGCTCGATCTACCAGACCCCAGGCCTGGGTTCCAAGGGAAAAATTGCCCAGACCACTCACCAGCAGTGCTTCAGCTATTCGTAAACTTATGCGGAAAGCAGAACTCATGGGGATCAGTACAGATATCTTTCCAGTGGACAATTCAGATACTAGTTCTAGTGTGGATGGAAGGAGAAAACATAAGCAACCAGCTCTCACTGCAGATTTTGTGAATTATTATTTTG___AGAGAAATATGCGCATGATTCAAATTCAGGAAAATATGGCTGAACAAAAGAATATAAAAGATAAATTAGAGAATGAACAAGAAAAGCTTCATGTAGAATATAATAAG___CTATGTGAATCTTTAGAAGAACTACAAAACCTGAATGGAAAACTTCGAAGTGAAGGACAAGGAATATGGGCTTTACTAGGCAGAATCACAGGGCAG___AA)GTTGAATATACCGGCAATTTTGCGAGCACCCAAGGAGAGAAAACCAAGTAAAAAAGAAGGAGGCACACAAAAGACATCTACTCTTCCTGCAGTACTTTATAG___TTGTGGGATTTGTAAGAAGAACCATGATCAGCATCTTCTTTTATTGTGTGATACCTGTAAACTACATTACCATCTTGGATGTCTGGATCCTCCTCTTACAAGGATGCCAAGAAAGACCAAAAACAGTTAcTG|GGTACAGAAGTAATTGAAGACACCGAGATTTAAAGAAGAAAAATACTTAAGCATCAACATTTGTTTCCAGACTCATCCTTCACCAAATATTTTAGCATGTTTGCCTTGCCCAGTTAAGAGTATTTTGGCCACATTTCCCAACTCTAAGTCCTGGAATGTTTCgGC . 24CO005 ENSG00000102572.14 ENSG00000285929.1(13064),ENSG00000132970.14(48499) -/- ./+ chr13:98576745 chr13:26509184 CDS/splice-site intergenic inversion 0 2 0 1 9 medium out-of-frame . . . . ENSG00000102572.14 . ENST00000539966.5 . upstream upstream . ^(GCCCGCGGGCCTCGCCGCCCCGCGCGGATCGTCGCGGCCCGGCCGT)CCCGTCCCAGGAAGTGGCCGTCCTGAGCGCCATGGCTCACTCCCCGGTGCAGTCGGGCCTGCCCGGCATGCAG|ACTGAAGTGGACCACAAGTAACTGAAACCATGGAAAGTGAAACTGAGGATAAAGGAGGCTCCCATAAATTCACAAGCCAGAAGAGTCATTTGGAAAG___GAGCAGCAGCCCAAAGCTACTGGAGGAGAGAAGAAGGGAGGAGGAAGCGTCTGGGCATGAGAGCAGCAGGAGTTGAGGTTACAGAGCTGTCGAAATCTCTCCTGCC MAHSPVQSGLPGMQ|tevdhk* 27CO004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 8 0 26 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 duplicates(4),low_entropy(1),mismappers(1),mismatches(1) CGCCATGCCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAG(ACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 27CO004 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 7 0 17 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1) GAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCC(AGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 27CO004 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 23 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) ACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGAC(ACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 27CO004 ENSG00000275672.1(16799),ENSG00000171763.20(5414) ENSG00000171766.16 ./- -/- chr15:45396922 chr15:45376819 intergenic CDS/splice-site deletion/read-through 5 7 0 34 62 high . . |Amidinotransferase(100%) . . . ENSG00000171766.16 . ENST00000396659.8 upstream downstream . TGGGAGCTCTAGGCCAGAGACTAGAGGCAGAGACCATATATATATTTCTTACTTCACAACAGGAAAGGAGAGAAGGTCTCTGAGGAAGTGACATTCCAGCTGAGACGTGAAGGATAAGTAGAAACCAAGCAGAAGAATTGGAAGAGGAAAGGGAAGAGGGAAAAGCCTGTGCCAATGCCCTGAGATTGGAATATGCTTTTTGTGTTTAAGAAATTAACAGAAG|CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTG(TGTTCCACCGTTCACCATCGAGGTGAAG___GCCAACACATATGAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGG___GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAG___GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAG___GTTACAAACTACCTAGGCATTGAATGGATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCTGACCGACCATGTCACCAG___ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACG___ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAGCTGG___GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCCCTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCCTACTTGGACTGAACAGGCCTGATGGAGCTTGTGGCTGGCCTCAGATACACCTAAGAAGCTTAGGGGCAAGGTTCATTCTCCTGCTTTAAAAAGTGCATGAACTGTAGTGCTTTAAACAATCATCTCCTTAACAGGGGTCGTAAGCCTGGTTTGCTTCTATTACTTTTCTTTGACATAAAGAAAATAACTTCTGCTAGGTATTACTCTCTACTCCTAAAGTTATTTACTATTTGGCTTCAAGTATAAAATTTTGGTGAATGTGTACCAAGAAAAAATTAGTCACCTGAGTAACTTGGCCACTAATAATTAACCATCTACCTCTGTTTTTAATTTTCTTTCCAAAAGGCAGCTTGAAATGTTGGTCCTAATCTTAATTTTTTTTCCTCTTCTATAGACTTGAGAATGTTTTTCTCTAAATGAGAGAAAGACTTAGAATGTACACAGATCCAAAATAGAATCAGATTATCTCTTTTTTTCTAAAGGAGAGAAAGACTTAGAACATACACAGATCCTAAGTAGAACCAGGTAATTGTCTCTTTTTCTAATAAGGAATTTGGGTAATTTTTAATTTTTTGTTTTTTAAAAAATAACCTAGACTATGCAAAACATCAAAGTGAATTTTCCATGAATGTTTTTAATATTCTCATCTCAACATTGTGATATATGCTACTAAAAACCTTTTCATATACATCTTACCTCATTTCAAGTGAATTATTTTAATCTTTTTCTCTCTTTCCAAAAATTTAGGAATGTTTAGTGTAATTGGATTTCGCTATCAGTTCCCATCCTTAAGTTTTGATATTCAATATCTGATAGATACACTGCATCTTTGGTCATCTAAGATTTGTTTACAAATGTGCAAATTATTTAGAGCATAGACTTTATAAGCATTAAAAAAAACTAATGGAGGTAAAACCTAAATGCGATGTGAAATAATTTTAGTGTTGATACCGTATGTGTATTTTTATTCTAATAAACTTTTGTGTTCCAGATTGAA)$ . 27CO004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 9 0 20 77 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismatches(1) CGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 27CO004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 2 8 0 40 13 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCAT)TGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 27CO004 ENSG00000076356.7 ENSG00000162888.4 -/- -/- chr1:208103147 chr1:206493076 CDS/splice-site exon/splice-site deletion 1 2 0 14 18 high out-of-frame . Plexin_repeat(100%),Sema_domain(100%)| . . ENSG00000076356.7 ENSG00000162888.4 ENST00000367033.4 ENST00000367119.1 upstream downstream duplicates(1) ^(GATAATGAGCTGCATGGTGAAATAGGGAGGCCGGCGCTCAGGGCTCCTCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCACCGCGGGAGCCAGAGCTGCCGGGAGGAGCGGCATCCGCGCCAGACTGGAGCGGGAGGGCGGCGGAGGGCAGTTGCTGGGAATTTTTCAGCCGAGAGGGCGAGCGATCCGGAGAGAGACCCCGAGAGCTTGGGAGCGGTAGGGCGTGCGAGCGCCGCAGCCAGCGGAGCAAACCTCGAAATAGATCTGGAAAGCCAGGCTCCCGGAGGAAATGGGACTGTGAACGAACCGGAGAGCAAGAAGGGAAGGAAGCGCCGGGATTGCTGATGTCAGAGGAGCCCGGAAAGTCGCGCTGGAAAAATCTGAAGACAGCCGGGGCTCTGCTTCTTCCTCAGGAGAGACACCGCCGGCCGCCCCCACACGCCCCCTCGGCGCCTCCGGGTGCCCCCTGAGAGCCGGCGACAGCGCCCAGCCGGGCTGCTGCGGGGCGACGGAGGACTGAGGGGCGCGCGGAGCGGAGACCGAGGAGCGACTTCAGGAATACAGATAAGTGTCTGGTGGCTTGACGTGGATTTTAATGAATTTGGACTCCATGTGGATTTGGTCGTCTCCCTGATTCCGAGCTGCGGGCAGGGAGAGGGGCCTCGCGCCGCCCTCAGCAGCCGGCGGCGGCCGAGGTAGACCGAGCGGGGACGGAAGGACAGACCGACGTCGCCGAGCTGG___AATCATGTGAGGGCCAACCGGGGAAGGTGGAGCAGATGAGCACACACAGGAGCCGTCTCCTCACCGCCGCCCCTCTCAGCATGGAACAGAGGCGGCCCTGGCCCCGGGCCCTGGAGGTGGACAGCCGCTCTGTGGTCCTGCTCTCAGTGGTCTGGGTGCTGCTGGCCCCCCCAGCAGCCGGCATGCCTCAGTTCAGCACCTTCCACTCTGAGAATCGTGACTGGACCTTCAACCACTTGACCGTCCACCAAGGGACGGGGGCCGTCTATGTGGGGGCCATCAACCGGGTCTATAAGCTGACAGGCAACCTGACCATCCAGGTGGCTCATAAGACAGGGCCAGAAGAGGACAACAAGTCTTGTTACCCGCCCCTCATCGTGCAGCCCTGCAGCGAAGTGCTCACCCTCACCAACAATGTCAACAAGCTGCTCATCATTGACTACTCTGAGAACCGCCTGCTGGCCTGTGGGAGCCTCTACCAGGGGGTCTGCAAGCTGCTGCGGCTGGATGACCTCTTCATCCTGGTGGAGCCATCCCACAAGAAGGAGCACTACCTGTCCAGTGTCAACAAGACGGGCACCATGTACGGGGTGATTGTGCGCTCTGAGGGTGAGGATGGCAAGCTCTTCATCGGCACGGCTGTGGATGGGAAGCAGGATTACTTCCCGACCCTGTCCAGCCGGAAGCTGCCCCGAGACCCTGAGTCCTCAGCCATGCTCGACTATGAGCTACACAGCGATTTTGTCTCCTCTCTCATCAAGATCCCTTCAGACACCCTGGCCCTGGTCTCCCACTTTGACATCTTCTACATCTACGGCTTTGCTAGTGGGGGCTTTGTCTACTTTCTCACTGTCCAGCCCGAGACCCCTGAGGGTGTGGCCATCAACTCCGCTGGAGACCTCTTCTACACCTCACGCATCGTGCGGCTCTGCAAGGATGACCCCAAGTTCCACTCATACGTGTCCCTGCCCTTCGGCTGCACCCGGGCCGGGGTGGAATACCGCCTCCTGCAGGCTGCTTACCTGGCCAAGCCTGGGGACTCACTGGCCCAGGCCTTCAATATCACCAGCCAGGACGATGTACTCTTTGCCATCTTCTCCAAAGGGCAGAAGCAGTATCACCACCCGCCCGATGACTCTGCCCTGTGTGCCTTCCCTATCCGGGCCATCAACTTGCAGATCAAGGAGCGCCTGCAGTCCTGCTACCAGGGCGAGGGCAACCTGGAGCTCAACTGGCTGCTGGGGAAGGACGTCCAGTGCACCAAGGCG___CCTGTCCCCATCGATGATAACTTCTGTGGACTGGACATCAACCAGCCCCTGGGAGGCTCAACTCCAGTGGAGGGCCTGACCCTGTACACCACCAGCAGGGACCGCATGACCTCTGTGGCCTCCTACGTTTACAACGGCTACAGCGTGGTTTTTGTGGGGACTAAGAGTGG)CAAGCTGAAAAAG___GTCACCAGGGTCCCCGTGGAGTCATGTGAGCAGTATACGACTTGTGGGGAGTGCCTGAGCTCTGGGGACCCTCACTGTGGCTGGTGTGCCCTGCACAACAT|GCAGCCACAGAACAGCCAACCAGGCGCAGGTGGTTCCTGGTCTCGTGCACCACCCTCAAGAGAACACACAGAGACTTAGAATTAGAGCAGGACTCAGCCCATTCCCCAGGGCTCGCCTAGCTGCCATCGGATCCACACATGGACACAGGTGGGTCCCGGGTATTTGCCTCCCTC(GCTGCCTCTGCCCTGCCAGCTGTGCCCTCCACGCTTGCCCGCCCCACTGCAATAATGCAGAAGCACACAGCTGGCTGAGGCTGGGAGGCCCCCTTCAGAGCCGTAGTGTGGAGCACCAACAACATGCATGTGGCTGGGGCTGGGTGACGCATGCCACCTATGGTGAGCGTGGCACCAGTCAGGCTGCAGAGAGGCAGAGGATAGCCCACACCAGGGCTCTCAGTGTGGGGAACTGCCCACGCTCTCATTTCCAGTGTGAATTCTCTTCTATCTCTAAGTGGAGTGAAGGAACAGGAACATTTTCCCCAAGGCCCAGAGCTGTTAAATCAGGGGTTGGAGGTCAGCCCTCGCCACACATTAGAATCACCTGGAGAAGCTGTACTACACTGACATCCAAGCCCTGCTCCAGAGCAATTACACCAGAATGTGTGGTGGGTTGGAGTAGAAGAAGCAGGCATTGGTATTCTGATATGAGGACGGGTGAGTGCCAAGGTCTCAGCCCCATAACAAGGTGAGGTCCTACAGGCCTCAGAATGTGGTAGCACGTGGGAAATTGTCCTCTCTTCTCAGGAGGGGCCAGTGTTCACACAGGCAGGGGATGGAGAGTGGGCCTGATCTGAGAAGGCGGAACCCAAAACTCCTGAAGGGGACAGTGTGACAGAAGGTTCTACTTAAGGGCCACTGCCACTGTCCTTATCCCAGGGGCACCTAGTGTTCTCCTAAAGGAGACTTCTCAATATAACCAGGTGGAACGGTAGAAAGAATCCAGATTTGATTTGATTTTACCCCTCAAAAGCCCTGAAGAATCTAGATTGTAGAGGCAGGCAGAGCCACATACGAGTCTTGGGTCTGCCACTTACTAGCCATGTGATGTGCAGAGGAGACCTGTTCTCAGAGCCTCAGTTTCCTCACCTAGGAAATAGGGTGATGATATCTACTGTATAGGGCAGGTGTTGTAGGAGTAAATAAGCTGAGCTACAGAAATCTCCCAGCCAACTGCCTGGTCCACCCAGGGACAGAAAACCACTCCTCTGCTCACACCCCTTCACTCACTCCTCCCTCTGCCTCAGGGCTCCACAAAGCCCTGGGTCCTCTGAAGCCTAGAAGGGCCAGGCCAGGCCCTGGGCTCCAGGAGCTCAGGAGGGGCTGTTACCTCATCCTCTTGCCGTGTGTGACTAAGGACGCTTGATACTTCTGCACGCACTCCTCCTGGAACACCTGCAGGAGTCTTTTGGCTAAATGACTGAAATTCACCCTAGAACGACAGAGAACCAAGGTGCAGATGAGCTGCCAGAACCACTATGCACAAGCCCACCATCCCTCAGTCTCCGTCAGTCTCCGTCACCACCTTGTCGTAAGTGCCCAAGCCCTGCGTCCACAGCAGGGCTATGTCTCTGGGAAAGGAGGAAGGACGGTCACACACTTGGATTGTGAAGGTTGCAGTGGCCAGCAAAGCCCACATCAACAGGGAGACGTGGGAGACACACAGGGGGTCCTCAGGGAACACACATGTGCTCAAGCTTAGTCCTCAGGAAAGGGAAGGGAAAGTGAGGCAGCCGTGGAAAGAAGGTGTGTGAGTGCGTGTGTGTGTGAGACAAAAAGGGGTCGGGGTGCTTGTAGAACTGGGGGAGTGAGTTCCCAGATAACCATTAAATCAGGGAGGGCCTCCTGGACGTGAGTGTGTCCGGGAAACATGGGAGACAGAGGAGCGGGGGGAGGCAGGGAAGGTTCAGGCAGAGGGCAGAAGCAGGAAGTGGTAAGTGGTGCATCAGTGAGGACAACTAGAG)$ MEQRRPWPRALEVDSRSVVLLSVVWVLLAPPAAGMPQFSTFHSENRDWTFNHLTVHQGTGAVYVGAINRVYKLTGNLTIQVAHKTGPEEDNKSCYPPLIVQPCSEVLTLTNNVNKLLIIDYSENRLLACGSLYQGVCKLLRLDDLFILVEPSHKKEHYLSSVNKTGTMYGVIVRSEGEDGKLFIGTAVDGKQDYFPTLSSRKLPRDPESSAMLDYELHSDFVSSLIKIPSDTLALVSHFDIFYIYGFASGGFVYFLTVQPETPEGVAINSAGDLFYTSRIVRLCKDDPKFHSYVSLPFGCTRAGVEYRLLQAAYLAKPGDSLAQAFNITSQDDVLFAIFSKGQKQYHHPPDDSALCAFPIRAINLQIKERLQSCYQGEGNLELNWLLGKDVQCTKAPVPIDDNFCGLDINQPLGGSTPVEGLTLYTTSRDRMTSVASYVYNGYSVVFVGTKSGKLKKVTRVPVESCEQYTTCGECLSSGDPHCGWCALHNm|qpqnsqpgaggswsrappsrehtet* 27CO004 ENSG00000198589.14 ENSG00000234828.8 -/- -/- chr4:150467673 chr4:149742739 CDS/splice-site 5'UTR/splice-site deletion 1 1 0 28 3 high out-of-frame . Beige/BEACH_domain(100%),Concanavalin_A-like_lectin/glucanases_superfamily(100%),Domain_of_Unknown_Function_(DUF1088)(100%),Domain_of_unknown_function_(DUF4704)(100%),PH_domain_associated_with_Beige/BEACH(100%)| . . ENSG00000198589.14 ENSG00000234828.8 ENST00000357115.9 ENST00000636793.1 upstream downstream . ^(AGCACTCGGCGCTGTCATGGCGGCCGGGAGCAGCTTCAGTGGGCACACGACAGCCGCGCGACCCGTGGCGGGGCGAGCTGTGGCAGTAGCATCCTCACCACTCGCAGCAGCCTCAGCCGCGGCGCCCGTAGCGCCAGCAGCGGCTGCTTTTGCAAAGGCTGAGCGCAGGGGCGGGGCGGGCCAGGAAGCCATGGAGTTCTGTGCAGCCGCGGACTCCCGGGGAGCGGACTAGGGAAACTTGGAGGCTGCGACCAG___GGTTTGGCGTTGTTGTCAGCCTCGGGGAGAGAGATTGGACAAATATTCTCCAAGAGGAGGAGGGCGACGCCAAGGACTTTCCACATCAACTGCTTTGGGGTATCTCCACAAGTTGGAAGAGGGACCCTTTCGTTTTGCATTGCGTGTGTTGTGCTCATTACCAGTGCAGCGACTGCCGTCCCAGGGTGACTCTGAGTTGTCCTTTATCGTGAGCTAGCAATGGCTAGCGAAGACAATCGTGTCCCTTCCCCGCCACCAACAGGTGATGACGGGGGAGGTGGAGGGAGAGAAGAAACCCCTACTGAAGGGGGTGCATTGTCTCTGAAACCAGGGCTCCCCATCAGGGGCATCAGAATGAAATTTGCCGTGTTGACCGGTTTGGTTGAAGTTGGAGAAGTATCCAATAGGGATATTGTAGAAACTGTCTTTAACCTG___TTGGTAGGAGGACAGTTTGATCTGGAAATGAATTTCATTATCCAAGAAGGTGAGAGTATTAACTGCATGGTGGACCTACTGGAAAAATGTGACATTACGTGCCAAGCAGAAGTCTGGAGCATGTTTACAGCCATTCTGAAGAAAAGCATACGGAATCTTCAAGTCTGCACTGAAGTAGGCCTTGTTGAAAAAGTGCTTGGGAAAATTGAAAAAGTTGACAATATGATAGCAG___ATCTTTTGGTTGACATGTTGGGAGTGCTGGCTAGCTATAATTTGACAGTTCGCGAGCTAAAGCTTTTCTTCAGTAAACTTCAAGGAGATAAAGGACGATGG___CCTCCACATGCTGGGAAGTTGCTGTCTGTGTTAAAGCATATGCCTCAGAAGTATGGTCCTGATGCCTTTTTTAACTTTCCAGGAAAGAGTGCTGCA___GCTATTGCATTACCTCCTATAGCCAAATGGCCATACCAGAATGGTTTTACATTTCATACATGGCTTAGAATGGATCCTGTAAATAACATCAATGTAGATAAGGATAAACCATATTTGTATTG___TTTCAGAACCAGCAAAGGTCTTGGCTATTCTGCTCATTTTGTTGGAGGCTGTTTGATTGTAACATCAATAAAGTCAAAAGGAAAAGGCTTTCAACACTGTGTGAAATTTGATTTCAAGCCACAAAAG___TGGTATATGGTTACCATAGTACACATCTATAACCGATGGAAGAATAGTGAACTTCGATGTTATGTGAATGGTGAGCTGGCTTCCTATGGAGAGATAACATGGTTTGTCAACACTAGCGAT___ACCTTTGACAAATGTTTCCTGGGCTCATCAGAAACAGCAGATGCTAATAGAGTATTCTGTGGTCAGATGACTGCAGTTTACCTTTTCAGTGAAGCTCTAAATGCAGCTCAGATATTTGCTATTTATCAGTTGGGCCTGGGATACAAG___GGTACATTTAAATTCAAAGCAGAAAGCGACCTTTTCCTTGCTGAGCATCACAAACTTTTATTGTACGATGGGAAACTCTCTAGTGCCATTGCATTCACGTACAATCCACGGGCTACAGATGCCCAGCTTTGTCTTGAATCATCTCCTAAGGACAACCCTTCAATTTTTGTTCATTCACCACATGCACTCATGCTCCAG___GATGTAAAGGCAGTTTTAACACATTCCATCCAAAGTGCAATGCATTCAATTGGAGGAGTACAAGTACTATTTCCACTTTTTGCACAGTTGGATTACAGGCAATATTTGTCTGATGAGATTGATTTGACTATATG___TTCAACCTTGCTGGCCTTTATCATGGAATTGTTGAAGAACTCAATTGCTATGCAGGAACAGATGCTTGCCTGTAAGGGCTTCTTGGTAATAGGATATAGCCTTGAAAAG___TCTTCCAAATCTCATGTTAGCAGAGCAGTACTTGAACTTTGCCTTGCATTTTCAAAATATCTGAGTAATCTGCAGAATGGGATGCCCCTGCTCAAGCAATTGTGTGATCACGTTCTTCTTAATCCTGCCATATGGATTCATACCCCAGCCAAG___GTTCAACTGATGCTCTATACTTATCTGTCCACGGAATTCATTGGTACAGTCAACATATATAACACCATTCGGAGAGTTGGAACAGTGCTTCTCATCATGCACACGCTGAAGTACTACTACTGGGCAGTGAATCCTCAGGATCGAAGTGGTATCACCCCAAAAGGATTAG___ATGGACCGCGACCTAATCAAAAAGAAATGCTTTCTCTACGAGCATTCTTGTTGATGTTCATTAAGCAATTAGTGATGAAG___GATTCTGGAGTAAAGGAAGATGAATTACAGGCCATTCTTAATTACCTACTGACTATGCATGAG___GATGACAATCTAATGGATGTCCTACAGCTGCTTGTTGCATTAATGTCAGAACACCCTAACTCTATGATTCCTGCTTTTGACCAAAGGAATGGGTTACG___TGTTATCTACAAACTTCTGGCATCGAAAAGTGAAGGAATCAGGGTACAAGCTCTTAAGGCAATGGGTTATTTTTTAAAACATCTGGCCCCAAA___GAGGAAAGCAGAAGTCATGCTTGGACATGGATTGTTTTCATTGCTAGCTGAAAGGCTCATGCTTCAGACAAATTTAATCACAATGACCACATATAATGTGCTGTTTGAG___ATTCTTATAGAACAGATTGGTACTCAGGTGATACATAAACAGCATCCAGATCCTGATTCTTCAGTGAAGATACAAAACCCTC___AGATACTAAAAGTAATTGCGACCCTACTTCGAAATTCTCCCCAGTGCCCAGAGAGCATGGAGGTTCGCAGAGCCTTTCTTTCTGACATGATTAAACTTTTTAATAACAGTAGAGAAAACAGGAG___GAGCTTGCTACAATGCTCTGTGTGGCAAGAATGGATGCTTTCTCTCTGCTATTTTAATCCTAAGAATTCAGATGAGCAAAAGATAACAGAAATGGTATACGCCATATTCAGAATCCTGCTTTACCATGCAGTCAAATATGAGTGGGGTGGCTGGCGTGTATGGGTAGACACTTTATCAATCACTCATTCAAAG___GTCACTTTTGAAATACACAAAGAAAACCTTGCCAATATATTTAGGGAACAGCAAGGAAAAGTTGATGAAGAAATAGGGCTGTGTTCTTCAACTTCAGTTCAAGCAGCCTCTGGCATTAGAAGGGATATTAATGTTTCAGTAGGATCCCAGCAACCAGATACGAAGGATTCTCCTGTCTGTCCTCATTTCACCACAAATGGTAATGAAAATTCAAGTATAGAGAAGACAAGTTCACTAGAATCTGCATCTAATATTGAACTGCAAACTACTAATACATCTTATGAAGAAATGAAAGCTGAGCAAGAAAATCAGGAGTTACCAGATGAAGGCACTTTGGAAGAAACACTGACAAATGAGACAAGGAATGCAGATGATTTAGAAGTATCTTCTGACATAATAGAAGCTGTGGCTATTTCCTCTAATTCTTTTATAACAACTGGCAAAGATTCAATGACTGTCAGTGAAGTAACTGCTTCTATAAGTTCTCCTTCAGAAGAGGATGCCTCAGAGATGCCAGAATTCTTGGATAAATCTATAGTAGAGGAAGAGGAAGATGATGATTATGTGGAACTGAAAGTAGAAGGCAGTCCTACTGAGGAAGCTAATCTACCCACAGAGCTCCAAGATAACAGTTTGTCTCCAGCTGCATCTGAAGCCGGTGAAAAACTGGACATGTTTGGTAATGATGACAAATTAATATTTCAAGAAGGAAAACCTGTTACTGAAAAGCAAACTGATACTGAAACTCAAGATTCTAAAGATTCTGGAATTCAGACTATGACAGCATCAGGGTCTTCAGCTATGTCACCAGAAACTACTGTTTCCCAAATAGCTGTAGAATCAGACCTTGGTCAGATGCTGGAGGAAGGGAAGAAAGCAACTAACCTCACTAGAGAAACCAAATTAATTAATGATTGTCATGGTAGTGTCTCTGAGGCTTCTTCTGAGCAAAAGATTGCGAAGTTGGATGTTTCCAATGTTGCTACAGATACTGAGAGGCTGGAGTTGAAGGCCAGTCCCAACGTGGAAGCACCTCAACCTCATCGACATGTGCTTGAG___ATATCAAGGCAACATGAGCAGCCAGGGCAAGGAATAGCACCAGATGCAGTTAATGGACAAAGGAGGGATTCCAGATCTACTGTGTTTCGTATTCCTGAGTTCAACTGGTCTCAGATGCATCAACGTTTGCTCACTGATCTATTATTTTCAATAGAAACAGATATACAGATGTGGAGAAG___CCATTCAACAAAGACAGTTATGGACTTCGTGAATAGCAGTGATAATGTCATCTTTGTACACAACACAATTCATCTCATCTCTCAAGTGATGGACAATATGGTCATGGCTTGTGGGGGTATACTGCCATTGCTTTCAGCTGCTACATCGGCTACA___CATGAACTGGAAAATATTGAACCTACTCAAGGCCTTTCAATAGAAGCCTCTGTGACATTTTTGCAGAGGCTAATTAGCCTTGTGGATGTGCTTATATTTGCAAGTTCTCTTGGCTTTACTGAAATTGAAGCTGAAAAAAGTATGTCATCTGGAGGAATTTTGCGGCAGTGTCTCCGACTAG___TTTGTGCAGTCGCAGTAAGGAATTGCTTGGAGTGTCAACAGCATTCACAACTGAAAACTAGGGGAGATAAAGCCTTGAAACCAATGCATAGCCTTATTCCTTTAGGGAAATCTGCAGCGAAG___AGCCCAGTGGACATTGTGACTGGCGGTATATCTCCAGTAAGAGATCTTGACAGGCTTCTACAGGACATGGATATTAATCGGCTTAGGGCAGTTGTTTTCAGAGACATA___GAGGATAGCAAACAAGCTCAATTTTTAGCCTTGGCAGTAGTATACTTTATCTCTGTTCTTATGGTCTCCAAGTACAGAGACATTTTGGAACCCCAAAATGAAAGGCATAGCCAGTCATGTACAGAAACTGGCAGTGAAAATGAGAATGTATCACTCTCTG___AAATCACACCAGCAGCATTCAGCACTTTAACTACGGCATCAGTGGAAGAATCTGAAAGCACATCATCTGCTCGAAGGAGGGACTCAGGCATTGGGGAAGAAACAGCCACTGGTTTAGGAAGCCATGTGGAAGTAACTCCTCACACAGCACCTCCTGGTGTCAGTGCAGGCCCAGATGCAATCAGCGAGGTGCTATCTACTCTTTCTTTAGAAGTCAATAAGTCTCCGGAAACCAAAAATGATAGAGGAAATGACTTGGACACTAAGGCTACACCGTCAGTTTCAGTTTCAAAAAACGTCAATGTGAAAGACATTCTCCGAAGCTTGGTTAACATACCAGCAGATGGAGTCACAGTGGATCCTGCCCTTCTGCCACCAGCCTGCCTTGGAGCCCTTGGTGATCTATCTGTGGAACAACCCGTGCAGTTCAGATCTTTTGACAG___AAGTGTCATTGTTGCAGCAAAAAAGTCAGCAGTCTCACCTTCCACCTTTAATACAAGCATACCTACCAATGCTGTCAGTGTGGTTTCCTCAGTAGATTCAGCCCAAGCCTCAGATATGGGAGGAGAATCACCAG___GCAGTAGATCATCTAATGCAAAATTGCCCTCAGTTCCAACAGTTGATTCAGTTTCACAAGATCCGGTTTCAAATATGAG___TATTACAGAGAGGCTTGAACACGCTTTGGAAAAGGCAGCTCCTCTCCTTCGTGAGATTTTTGTGGATTTTGCACCTTTTCTTTCTCGGACACTTTTGGGTAGCCATGGACAAGAACTGCTTATAGAAGGAACAA___GTCTGGTTTGCATGAAGTCGAGTAGTTCAGTTGTGGAATTGGTTATGCTACTGTGTTCTCAG___GAGTGGCAAAATTCTATTCAGAAGAATGCAGGCCTTGCTTTTATCGAACTTGTCAATGAAGGAAG___GTTGCTTAGCCAGACAATGAAGGATCATCTAGTAAGAGTAGCAAATGAAGCTGAATTTATCCTGAGCAGGCAGAGAGCAGAAGATATTCACAGACATGCGGAATTTGAG___TCACTGTGTGCCCAGTATTCTGCAGACAAACGAGAAGATGAGAAGATGTGTGATCATTTGATAAGAGCAGCAAAATATCGTGACCACGTGACAGCAACTCAACTAATCCAGAAAATTATCAACATTCTCACAGACAAGCATGGAGCCTGGGGAAATTCTGCAGTGAG___TCGTCCTCTTGAGTTCTGGCGCCTTGACTACTGGGAAGATGACTTGCGGCGCCGGCGACGATTTGTGCGTAACCCTCTAGGATCGACACATCCTGAAGCGACACTAAAAACAGCCGTGGAACATG___TGTGCATTTTTAAATTGAGAGAGAACAGCAAAG___CCACAGATGAAGATATCCTTGCTAAAGGAAAACAGTCCATCAGGAGTCAGGCTTTAGGAAATCAGAACTCAGAAAACGAGATCCTCCTGGAAGGCGATGATGATACTCTGTCATCCGTGGATGAGAAAGATTTAGAGAATCTTGCCG___GTCCTGTTAGCCTGAGCACACCAGCTCAGCTTGTGGCCCCCTCTGTTGTAGTAAAGGGCACTCTTTCTGTCACCTCCTCCGAACTCTATTTTGAGGTGGATGAAGAGGATCCTAACTTCAAAAAAATCGACCCCAAG___ATCTTGGCATATACAGAAGGGCTGCATGGAAAATGGCTGTTCACAGAGATACGATCAATCTTTTCTCGTCGTTATCTTTTGCAAAATACAGCCCTGGAGATCTTTATGGCAAACAGAG___TTGCTGTGATGTTCAACTTCCCAGACCCTGCAACAGTAAAGAAAGTGGTTAACTATCTACCTCGTGTTGGCGTTGGAACAAGTTTTGGATTGCCTCAAACCAG___ACGTATTTCATTAGCTAGTCCACGTCAGCTTTTTAAGGCTTCTAATATGACCCAGCGATGGCAACACAGAGAGATATCTAATTTTGAGTACTTGATGTTTCTCAACACGATAGCAG___GACGGAGTTATAATGACTTAAATCAGTATCCAGTGTTTCCTTGGGTCATCAC)TAATTATGAATCAGAAGAACTGGATCTTACCTTGCCCACCAACTTCAGAGATTTGTCCAAG|GACTTGGAGCTCACACTTTAAAAAAGAAGATCATTCTAACTGCCCCTCATGACTACTGAAGAGGCTATGCCTGAAAAAGCAAAAT___GTCCTACATTAGAGATCACCAAGCAAGACTTTTTTCAAGAAGCAAAAACTCTCATTGCCCA(ACATTATGAGAAAATAAATGAG___AATAAAGTTCAAGGTACTTCTATAAATGTTTTTAGAAAGAAACACCAAAAACCGAAATCTGGCAAATACATACCTTTGGAGATTGACAAAAAGGTAACACGTGATGTGGTGCAAGAACATCGGGCCGCACTCAGAAGGATTTGCTTTCCCAAGGAGCTTTCCAAAAGCGAGCATCTTCAGGAACCCCCACAACGAATCTCCTTCAAGGAACCACACATTTTTAGTAGAAGAGAAAGATGCAGGCCCATAGATCTAATTACAAAAG___GACAAGTTAAATTGGATAAAATCATGACTATTATTGAACCAGTGAGTAAAAAAATGGAGACAGCAAAGCAACAGCACTTTGAGGAGTCCAG___AAACAGAATGTTGGAATTACTCTATCCCTTTCCTGTCCATCTTTACTTACAACCTGGGACCTCTAACTTGGAACTTCTGAAAGAACCTG___ACAAAGCATTCTATGACTGGAGAGGATTTGTGCTGACAAGGTCTTTCCGTTTGGCTTGTGACTCCCGTCGAGTTAGTTTCTCTCAATCATCATCAATATTTCGGGATTATTATTCT___AAAACCTTTAAAACCCTTATTAAAAAGGAGCGACAACCTATCAAGCCAGAACCAAAATCACAACCCAG___GATAAAAGGTACTCCAAATAAAACTGATAAACTTGACAGTAAAGTTAAAAGAATTGGACCACACATAGAAATCTTCCAAGTGTTCCGAGAAAGAAAAAAATTCATGATTACCCCAAAATTGATTAGAATGGTCACCGTCATGCAGGCACATGTCAGGGGATGGCTTGAACGGAAAAGATTGCAAAGAGTAATGACCAAG___GCTTTGGATCATGGACCAGATATGAAAGCAGTTATTAACATGTATGGCAGACTAATCCACCGTGTTAGATATCGACGTGGTCTTTGGAGGACAAGACAAATTCTCAACTTAGCAGAGCTAGAGGAGTGGATGGACCGAAAAAAAT___TCTATGAAATAATGTTTGCTAAGAGGGAAGATTGGCCAAAAATTGAAAGAAATGAGCTCCCCAATTTCTTCAGTGACTGTGGTCATTTCCCAACTCAGAAACAAGTTGATGATACTTGGGACCTGGTCCATCAAG___ATGGCAAAGAAAAATATTCTGAACTAATCAAAAAGTCCAAAGCAATTGAAATGTTATTTACACTCTATCCTCCTGAAGGTGCACATGTGCCTGACAGTACACTACTCAAGTCGACTTGGTTGAGACCCATAGTAAATGGGGAAGAAGGTTATAGATATATAG___TAAATGGACATCCAGCACTCAAACGAGCTAACATCCGGGTTGTTGGAAAGTTGGTGGCCCGATCCATAAGAGAAAGGAAAATGAGACAACATTATAAGTCATGTAAAGTTGAATGATGTTTCCAACATATTATTACCTGTAATAGTTAAACTTCTCTACCCAAA)$ MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEVSNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKKSIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDKGRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMDPVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWYMVTIVHIYNRWKNSELRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQMTAVYLFSEALNAAQIFAIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFTYNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLFAQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGFLVIGYSLEKSSKSHVSRAVLELCLAFSKYLSNLQNGMPLLKQLCDHVLLNPAIWIHTPAKVQLMLYTYLSTEFIGTVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEMLSLRAFLLMFIKQLVMKDSGVKEDELQAILNYLLTMHEDDNLMDVLQLLVALMSEHPNSMIPAFDQRNGLRVIYKLLASKSEGIRVQALKAMGYFLKHLAPKRKAEVMLGHGLFSLLAERLMLQTNLITMTTYNVLFEILIEQIGTQVIHKQHPDPDSSVKIQNPQILKVIATLLRNSPQCPESMEVRRAFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDEQKITEMVYAIFRILLYHAVKYEWGGWRVWVDTLSITHSKVTFEIHKENLANIFREQQGKVDEEIGLCSSTSVQAASGIRRDINVSVGSQQPDTKDSPVCPHFTTNGNENSSIEKTSSLESASNIELQTTNTSYEEMKAEQENQELPDEGTLEETLTNETRNADDLEVSSDIIEAVAISSNSFITTGKDSMTVSEVTASISSPSEEDASEMPEFLDKSIVEEEEDDDYVELKVEGSPTEEANLPTELQDNSLSPAASEAGEKLDMFGNDDKLIFQEGKPVTEKQTDTETQDSKDSGIQTMTASGSSAMSPETTVSQIAVESDLGQMLEEGKKATNLTRETKLINDCHGSVSEASSEQKIAKLDVSNVATDTERLELKASPNVEAPQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLTDLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLSAATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGILRQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPVRDLDRLLQDMDINRLRAVVFRDIEDSKQAQFLALAVVYFISVLMVSKYRDILEPQNERHSQSCTETGSENENVSLSEITPAAFSTLTTASVEESESTSSARRRDSGIGEETATGLGSHVEVTPHTAPPGVSAGPDAISEVLSTLSLEVNKSPETKNDRGNDLDTKATPSVSVSKNVNVKDILRSLVNIPADGVTVDPALLPPACLGALGDLSVEQPVQFRSFDRSVIVAAKKSAVSPSTFNTSIPTNAVSVVSSVDSAQASDMGGESPGSRSSNAKLPSVPTVDSVSQDPVSNMSITERLEHALEKAAPLLREIFVDFAPFLSRTLLGSHGQELLIEGTSLVCMKSSSSVVELVMLLCSQEWQNSIQKNAGLAFIELVNEGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESLCAQYSADKREDEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVSRPLEFWRLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHVCIFKLRENSKATDEDILAKGKQSIRSQALGNQNSENEILLEGDDDTLSSVDEKDLENLAGPVSLSTPAQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKIDPKILAYTEGLHGKWLFTEIRSIFSRRYLLQNTALEIFMANRVAVMFNFPDPATVKKVVNYLPRVGVGTSFGLPQTRRISLASPRQLFKASNMTQRWQHREISNFEYLMFLNTIAGRSYNDLNQYPVFPWVITNYESEELDLTLPTNFRDLSK|dleltl*