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Merge pull request #42 from yhoogstrate/3_0_6_arriba
changes to support arriba
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#gene1 gene2 strand1(gene/fusion) strand2(gene/fusion) breakpoint1 breakpoint2 site1 site2 type direction1 direction2 split_reads1 split_reads2 discordant_mates coverage1 coverage2 confidence closest_genomic_breakpoint1 closest_genomic_breakpoint2 filters fusion_transcript reading_frame peptide_sequence read_identifiers | ||
KMT2A MLLT10 +/+ +/+ 11:118482495 10:21651673 splice-site splice-site translocation downstream upstream 13 2 0 99 302 high . . duplicates(31) ATCCAAACAGGCCACCACTCCAGCTTCCAGGAAGTCAAGCAAGCAGGTCTCCCAGCCAGCACTGGTCATCCCGCCTCAGCCACCTACTACAGGACCGCCAAGAAAAGAAGTTCCCAAAACCACTCCTAGTGAGCCCAAGAAAAAGCAGCCTCCACCACCAGAATCAG___GTCCAGAGCAGAGCAAACAGAAAAAAGTGGCTCCCCGCCCAAGTATCCCTGTAAAACAAAAACCAAAAGAAAAG|AAATATAAAGAGAAGGACAAACACAAACAGAAACACAAGAAGCAGCCAGAACCATCACCTGCATTGGTTCCATCCTTGACTGTTACTACAGAAAAA___ACTTATACAAGCACTAGCAAC in-frame SKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPRPSIPVKQKPKEK|KYKEKDKHKQKHKKQPEPSPALVPSLTVTTEKTYTSTS . | ||
KMT2A MLLT10 +/+ +/+ 11:118482092 10:21651673 splice-site splice-site translocation downstream upstream 1 0 0 194 302 low . . . CACTGGTCATCCCGCCTCAGCCACCTACTACAGGACCGCCAAGAAAAGAAGTTCCCAAAACCACTCCTAGTGAGCCCAAGAAAAAGCAGCCTCCACCACCAGAATCAG|AAATATAAAGAGAAGGACAAACACAAACAGAAACACAAGAAGCAGCC out-of-frame LVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPES|ei* . | ||
MLLT10 RP11-460I19.2(14723),RNF212(12555) +/+ ./+ 10:21538912 4:1043695 splice-site intergenic translocation downstream upstream 1 7 2 138 42 high . . duplicates(26) ACCCGCTGGTTTATTGCGACGGGCACGGCTGCAGCGTCGCGGTGCATCAAG___CTTGCTATGGCATTGTTCAAGTACCCACTGGACCaTGGTTTTGCAGGAAATGTGAATCTCAGGAGAGAGCAGCCAGAGTG|CTCCTGCCAATTCCAACACTGAGAGTCTGTGTTTGGACGCCTCCAGTGACCACTGGCTCCGCGAGTGATGACTCACACCCATCACTCATCCCCTTCCTGAGTCAGCCGCGGGACCCTCTGCAGGGAGGCGTGCGAGTCATCGAG___AGAACAGCATTATTAGTGGC out-of-frame PLVYCDGHGCSVAVHQACYGIVQVPTGPWFCRKCESQERAARV|llpiptlrvcvwtppvttgsasddshpslipflsqprdplqggvrviertallv . | ||
RP11-397P14.3 AKR1E2 -/+ +/+ 10:4889923 10:4830675 exon splice-site duplication/3'-3' downstream upstream 5 2 2 60 445 high . . duplicates(37) AGAATATCCAG___GCTCTCTTTTTGCCTGCTGCCATCCATGTAAGACGCGACTTGTTTCTCCTTGCCTTCTGTCATGATTGTGAGGCTTCCCCAGACACTTGGAACT___TGCCGTTGGCAATCTTCTTTCGGATGGCCTGCCCGATGCCTTCTTCATTCAG|GCTTCTCCAGGGAAAGTGACCGAGGCAGTGAAAGAGGCCATTGACGCAGGGTACCGGCACTTCGACTGTGCTTACTTTTACCACAATGAGAGGGAGGTTGGAGCAGGGATCCGTTGCAAGATCAAGGAAGGCGCTGTAAGACGGGAG . . . | ||
KANSL1 RP11-707O23.1(5132),RP11-707O23.5(2368) -/- ./- 17:46170855 17:45598501 splice-site intergenic deletion upstream downstream 1 2 1 470 90 high . . duplicates(11) AGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AATTCTCAATCGCAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAAATTACTGGCATTAAAATATCt___AGACGTGGGAACAACGCAAGTCCCACTTACAACACTTAAGAACATTCTCATG out-of-frame RFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPl|ilnrnplttvedpylfkllalkyldvgttqvplttlknil . | ||
HELLPAR C12orf48 +/+ +/+ 12:102205152 12:102148230 exon splice-site duplication downstream upstream 0 1 3 51 289 high . . duplicates(27) CTCTTGTTTTGCTCCAAGAATTGGAGTGG|CACAGTGGAGAATTTACAGTCTCTCTCAGTGATGTTTTATTGACATGGAAATACTTGCTCCATGAGAAATTG...TGGACGTGACTGACCATTATGAGGACGTTAGGAAGATTTATGATGATTTCTTGAAGAACAGTAATATGTTAGATCTGATTGATGTTTATCAAAAATGTAGG . . . | ||
CDH12P3(63905),RP11-1415C14.4(377) GUSBP3 ./- -/- 5:70196878 5:69642289 intergenic splice-site deletion upstream downstream 1 2 0 20 76 high . . duplicates(9) CCAAGGATGAAGGAAAAACTGGACCTCATTATGGATTTACTTTTGGGATACACTCATTATTCCAGAGGAGGGTAAAAGGCTGAGAAGCTTAAG|GATGGTGATTGCTCACACCAAAGCCTTGGACCCCTCCCAGCCTGTGACCTTTGTGACCAACTCCACCTACGCAGCAGACAAGGGGG . . . | ||
RP11-524N5.1 CTC-436K13.2(38552),RP11-524N5.1(3318) -/+ ./+ 5:158359646 5:158317365 intron intergenic duplication downstream upstream 27 14 3 104 470 medium . . duplicates(134) CGAGAAGGGAGGCAGATCAG___GTTTTTCCTTTTACCAGTGTGGACTAGAGGAAAAGTGATCGACAAAGAGGCAAGGAGAGAATGACAAACAGGAG___...CTTACATTCTAGCCAGGAAAAATGGATAGAAATAAGAAAATGAATACATGAATGATCTCAGAGAAGG___GTATATAGTATTGAGCAATGATAGCATTTTGCTTAAGGAAACTGACTGCATACAGTTGTTCCCAAG|ATGAGAAAACTGAGTCCCAAGGGGTTAAGTGATTTGCTCAAGGCAATGGCAGAGGAGGAACCAGGACCCAATTTTCTCAACTGTGAGCCAAG___GTTTTTCCTTTTACCAGTGTGGACTAGAGGAAAAGTGATCGACAAAGAGGCAAGGAGAGAATGACAAACAGGAG . . . | ||
RP11-392E22.9 ANKRD18A -/- -/- 9:38575476 9:38588663 splice-site splice-site duplication upstream downstream 14 10 1 208 980 medium . . duplicates(84),small_insert_size(3) GGAAGCCTTTGCAGGAGCAGTGAAAGCTAACAATTCCATGTCAAAAAAATTAATGAA___ATCGGATAAGAAAATAGCAGTGATCAGCACCAAGCTCTTTACGGAGAAACAGCGGATGAAATATTTTCTCAGCACTCTTCCTACAAGGCCAGAACCAGAGTTACCTTGTGTTGAAAATCTTAATAGTATAGAACTCAACAGAAAATATATTCCCAAAACGGCCATAAGAATTCCTACTTCAAACCCACAGACTTCAAATAACTGCAAGAACTTCTTGACTGAG|CCTGAAGAAAAACATGAAGAATTCAGAAAACTTTTTGAATTAATATCATTACTGAACTATACTGCGGACCAAATAAGAAAGAAAAATCGTGAATTAGAAGAAGAGGCAACTGG___ATATAAGAAATGCCTAGAAATGACAATAAATATGTTAAATGCATTTGCAAATGAGGACTTCAGTTGCCATGGAGACTTAAATACAGACC . . . | ||
RP11-392E22.9 ANKRD18A -/- -/- 9:38575476 9:38586312 splice-site splice-site duplication upstream downstream 6 12 0 208 262 medium . . duplicates(40) AGCAGTGATCAGCACCAAGCTCTTTACGGAGAAACAGCGGATGAAATATTTTCTCAGCACTCTTCCTACAAGGCCAGAACCAGAGTTACCTTGTGTTGAAAATCTTAATAGTATAGAACTCAACAGAAAATATATTCCCAAAACGGCCATAAGAATTCCTACTTCAAACCCACAGACTTCAAATAACTGCAAGAACTTCTTGACTGAG|ATATAAGAAATGCCTAGAAATGACAATAAATATGTTAAATGCATTTGCAAATGAGGACTTCAGTTGCCATGGAGACTTAAATACAGACC out-of-frame AVISTKLFTEKQRMKYFLSTLPTRPEPELPCVENLNSIELNRKYIPKTAIRIPTSNPQTSNNCKNFLTE|i* . | ||
RP11-392E22.9 ANKRD18A -/- -/- 9:38575476 9:38578148 splice-site splice-site duplication upstream downstream 0 1 0 208 212 low . . duplicates(5) CAAATAACTGCAAGAACTTCTTGACTGAG|TTTAATGATCTTGTGGCCGAGAAGGAAGCTGTGTCTTCAGAATGTGTCAATTTGGCCAAAGACAATGAAGTTCTTCATCAGGAGTTATTATCTATGAGAAATGTACAAGAG in-frame NNCKNFLTE|FNDLVAEKEAVSSECVNLAKDNEVLHQELLSMRNVQ . | ||
RNU6-3P SNORA71B -/- -/- X:141118029 20:38425322 splice-site exon translocation upstream downstream 25 0 0 866 3 medium . . duplicates(69) AGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTTTT|CGAAAGTGATCGTGGGCTGCCTTTGCCCTGGTCATTGATAGTGCAGGGAGAGGAATCAATGAAAGCGCTTCCCCGTGTTTGAAGG . . . | ||
RNU6-3P SNORA71D -/- -/- X:141118029 20:38433989 splice-site exon translocation upstream downstream 19 0 0 866 13 medium . . duplicates(49) CAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTTTT|CGAAAGTGATCGTGGGCTGCCTGTGCCCTGGTCATTGATAGTGCAGGGAGAG . . . | ||
RNU6-9 SNORA20 +/+ -/- 19:893592 6:159780371 splice-site exon translocation downstream downstream 17 0 0 322 62 medium . . duplicates(62) CTTCGGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTTTTT|ATTTGCTGCTTGTAGTCTCACAGTGATACGAGCAGTTATACGCATGGGATAAAATAACATTGGGC . . . | ||
OR10Z1 CTD-2341M24.1(92506),RP11-26L16.1(110092) +/- ./- 1:158611080 14:86222284 3'UTR intergenic translocation upstream downstream 0 2 1 1155 10 medium . . duplicates(9) CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTTGTGTTTGTGTGCATATTACATTTATTGTAGGATCT?AAAAAATCTCAAG|TTTGGAAGGATGAGAAGGC...AAGACTAAGTAAGAACATGTATACAGGAAGCAATAAAGTATTGACAAGCCAATAATCATGACTGAGGGACAAATGAGATAACCCAAAGTCCAGCTCACATC . . . | ||
ANKRD18A ANKRD18A -/- -/- 9:38575476 9:38588663 splice-site splice-site duplication/non-canonical_splicing upstream downstream 14 10 1 208 980 low . . duplicates(84) GGAAGCCTTTGCAGGAGCAGTGAAAGCTAACAATTCCATGTCAAAAAAATTAATGAA___ATCGGATAAGAAAATAGCAGTGATCAGCACCAAGCTCTTTACGGAGAAACAGCGGATGAAATATTTTCTCAGCACTCTTCCTACAAGGCCAGAACCAGAGTTACCTTGTGTTGAAAATCTTAATAGTATAGAACTCAACAGAAAATATATTCCCAAAACGGCCATAAGAATTCCTACTTCAAACCCACAGACTTCAAATAACTGCAAGAACTTCTTGACTGAG|CCTGAAGAAAAACATGAAGAATTCAGAAAACTTTTTGAATTAATATCATTACTGAACTATACTGCGGACCAAATAAGAAAGAAAAATCGTGAATTAGAAGAAGAGGCAACTGG___ATATAAGAAATGCCTAGAAATGACAATAAATATGTTAAATGCATTTGCAAATGAGGACTTCAGTTGCCATGGAGACTTAAATACAGACC in-frame EAFAGAVKANNSMSKKLMKSDKKIAVISTKLFTEKQRMKYFLSTLPTRPEPELPCVENLNSIELNRKYIPKTAIRIPTSNPQTSNNCKNFLTE|PEEKHEEFRKLFELISLLNYTADQIRKKNRELEEEATGYKKCLEMTINMLNAFANEDFSCHGDLNTD . | ||
WASHC2A GLCCI1 +/+ +/+ 10:50110138 7:8086902 CDS 3'UTR translocation downstream upstream 0 0 4 74 402 low . . duplicates(3) GCAAAAGCCTCCGAGCTCTCCAAAAAGAAAGCATCTGCCCTGTTGTTCAGCAGTGATGAGGAG___GACCAGTGGAATATTCCTGCTTCACAGACCCACTTAGC...|...ATGGAAAATACTGTAATTCAGGATTATGTTTACAATTGATCCAGGTGTTTGTTTCTAACTTCTGTAATACATACAATGCAAAAAAAAAAAAAAAAAAATGGC . . . | ||
COX7C RP11-477B16.2(107232),RP11-74A12.2(91794) +/+ ./+ 5:86620690 13:94868247 3'UTR intergenic translocation downstream upstream 0 0 4 5370 13 low . . duplicates(2) GCATTTGCTACACCCTTCCTTGTAGTAAGACACCAACTGCTTAAAACATAAGGATGTTTCAGTTCCTCCATTTAACAG___ATATGAAGAGCATTTTAAGAGGT...|...AACAAGTGCTGACAAGGATGTGTAGAAATTGAAACCCTCATGCATTCCTGGTGGGAATGCAAAATGGTGCATTCACTGCAAACCAAAAAAAAAAAAAAAGTTT . . . | ||
CMTM6 AC093113.1(165002),RP11-638D14.1(79189) -/- ./+ 3:32483823 2:146754312 3'UTR intergenic translocation upstream upstream 0 0 4 4080 17 low . . . CCTGCATTGTGGTGCCTGAGCCCTGGCAGAAGCTCTTGTAAAATTTGTTAATTGTTTAAACCACTTCTTTTGGAGAGCAAGGGGAAGGTCAAGAAGGCAGT...|...ATgGAGAAGTAGTGGGAGAAAAAAAGTTCAAATGATAGAAGTTGGCAAATGCCAATCTAAGGATTTCAAATTTATCTTTTTTTTTTTTTTTTTTTTTT . . . | ||
PYURF KDM6A(32878),CXorf36(2894) -/- ./+ 4:88521038 X:45145480 3'UTR intergenic translocation upstream upstream 0 0 3 186 8 low . . duplicates(1) CGAATGTGATATAAAACCACATAATCAAATAGAAACTTCATGTACTTACAAAAACTGAGTTTGTAAAATTACCTTCATTTCTTTGACATTAAATGCTTATA...|...TACAAAAAAATTTTAAAAAATTAGCCAGGCGTGGTGCTACCACTGCACTCCAGCCTGGACAAAGCCCTGTCTCcAAAAAAAAAAAAAAAAAAAAGAGTG . . . | ||
AC006369.3(15150),AC010878.3(54719) CDC42EP3 ./- -/- 2:37762196 2:37719944 intergenic splice-site deletion/read-through upstream downstream 1 2 0 13 14 low . . duplicates(10) CACCGTGATCCTTAACCAGAAGTCATTTTGTGCTCTTTCAACTGCATTCTGCAAATTTGTATTCCACAGTGCAGGAAAGATC|GCAGAAACGAGTAATGTGAGAGCCTGCAATTGTAATCTTCATAAAGTATATCACATACCGTTCAAAAACATCAAGTGGCATGTTAAATAAGCTTTTGGAGAATAAGTTGAGCGTGAC . . . | ||
SMARCA5 RP1-241P17.1(12064),RP11-761E20.1(62157) +/+ ./+ 4:143546801 X:115855114 CDS intergenic translocation downstream upstream 0 0 3 5123 1 low . . . AACAGCTTAAAATTGATGAAGCTGAATCCCTTAATGATGAAGAGTTAGAGGAAAAAGAGAAGCTTCTAACACAG___GGATTTACCAATTGGAATAAGAGAGA...|...TTcTGAGtgTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAGAGAGAGAAAGAGAAAGAGACAGAGAAAAGAAACTATGTTG . . . | ||
CKAP4 SGCB -/- -/- 12:106238010 4:52031703 3'UTR intron translocation upstream downstream 0 3 0 207 8 low . . . CTGAGCTGTATTGTTCTTTAATGGCTGTCTTGCCCTTCCAAAAAAAATTGAAAA|CTCCTAAACCATGGAAAAAATAGAAACTCATGGAATAGAGAAAATGC...TCAATGAAACAAGAATAACATGCCATTTAAAAGGCACAAGCCAGGCACAGTGGCTCATGCCTGATAAAGTGAGACCCTGTCTCTACCAAAAAAAAAAAAAAT . . . | ||
CTD-2013M15.1(4379018),EMB(121204) EMB ./- -/- 5:50274988 5:50410965 intergenic splice-site duplication upstream downstream 1 2 0 83 16723 low . . duplicates(6) TACTAAAGGCTTACTATTGGTAAGACCTATAGAACAGTGCGTTTGGAAGCGGACTCACCcAGCATTCTATTTAATCACTCTGTAGAAGCTAAG|GTTCACCATCATTAATAGCAAACAAATGGGAAGTTATTCTTGTTTCTTTCGAGAGGAAAAGGAACAAAGGGGAACATTTAATTTCAAAG___TCCCTGAACTTCATG . . . | ||
KIAA1586(4626),ZNF451(26979) KIAA1586 ./+ +/+ 6:57059865 6:57052686 intergenic splice-site duplication downstream upstream 1 0 0 16 373 low . . duplicates(3) TAAACAGACTCAAAGAAG___GCATTTTAAACTGAATAGGTCCAAAGCTGAATTTATTCATCTCTCATCATATCTGTTTTGAAAAATGGCCCAACCATTTCCCTTGATGCTCAAACTAGAAAG|ATTCTGTTTCCTAAAATGCCAAAACGACAG . . . |
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