#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 read_identifiers breakpoint_ID vaf1 vaf2 vaf_avg total_reads blacklisted aih_curated_reason FILTER filter_reason FGFR3 TACC3 +/+ +/+ chr4:1806934 chr4:1739702 CDS/splice-site CDS/splice-site duplication 13 16 0 70 140 high in-frame . Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) . . ENSG00000068078.20 ENSG00000013810.20 ENST00000412135.7 ENST00000651472.1 downstream upstream duplicates(4) TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAG CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEK SYNTHESIZER:1:REGRESSION:1:1101:153535120:153545120,SYNTHESIZER:1:REGRESSION:1:1101:160550110:160560110,SYNTHESIZER:1:REGRESSION:1:1101:164815460:164825460,SYNTHESIZER:1:REGRESSION:1:1101:178999920:179009920,SYNTHESIZER:1:REGRESSION:1:1101:187626400:187636400,SYNTHESIZER:1:REGRESSION:2:1101:112919410:112929410,SYNTHESIZER:1:REGRESSION:2:1101:150072740:150082740,SYNTHESIZER:1:REGRESSION:2:1101:163095770:163105770,SYNTHESIZER:1:REGRESSION:2:1101:188123480:188133480,SYNTHESIZER:1:REGRESSION:2:1101:199687200:199697200,SYNTHESIZER:1:REGRESSION:3:1101:113487110:113497110,SYNTHESIZER:1:REGRESSION:3:1101:151699350:151709350,SYNTHESIZER:1:REGRESSION:3:1101:158825840:158835840,SYNTHESIZER:1:REGRESSION:3:1101:163982960:163992960,SYNTHESIZER:1:REGRESSION:3:1101:194263860:194273860,SYNTHESIZER:1:REGRESSION:4:1101:129123590:129133590,SYNTHESIZER:1:REGRESSION:4:1101:142537460:142547460,SYNTHESIZER:1:REGRESSION:4:1101:169368800:169378800,SYNTHESIZER:1:REGRESSION:4:1101:169577660:169587660,SYNTHESIZER:1:REGRESSION:4:1101:189380640:189390640,SYNTHESIZER:1:REGRESSION:1:1101:110254350:110264350,SYNTHESIZER:1:REGRESSION:1:1101:144045710:144055710,SYNTHESIZER:1:REGRESSION:1:1101:165731810:165741810,SYNTHESIZER:1:REGRESSION:1:1101:170063320:170073320,SYNTHESIZER:1:REGRESSION:2:1101:118464700:118474700,SYNTHESIZER:1:REGRESSION:2:1101:124371890:124381890,SYNTHESIZER:1:REGRESSION:2:1101:139793760:139803760,SYNTHESIZER:1:REGRESSION:2:1101:142938110:142948110,SYNTHESIZER:1:REGRESSION:2:1101:145670420:145680420,SYNTHESIZER:1:REGRESSION:3:1101:127173320:127183320,SYNTHESIZER:1:REGRESSION:3:1101:171930860:171940860,SYNTHESIZER:1:REGRESSION:3:1101:197101420:197111420,SYNTHESIZER:1:REGRESSION:4:1101:120300050:120310050 chr4:1806934-chr4:1739702 0.1566265060240964 0.10256410256410256 0.1295953042940995 29 False PASS LMNA NTRK1 +/+ +/+ chr1:156130773 chr1:156874906 CDS/splice-site CDS/splice-site deletion 15 7 0 290 68 high in-frame . Intermediate_filament_protein(39%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(95%) . . ENSG00000160789.23 ENSG00000198400.13 ENST00000368301.6 ENST00000392302.7 downstream upstream duplicates(3) GGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAA ARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRN SYNTHESIZER:1:REGRESSION:1:1101:135814020:135824020,SYNTHESIZER:1:REGRESSION:1:1101:154376590:154386590,SYNTHESIZER:1:REGRESSION:1:1101:171944360:171954360,SYNTHESIZER:1:REGRESSION:1:1101:178383360:178393360,SYNTHESIZER:1:REGRESSION:1:1101:183101920:183111920,SYNTHESIZER:1:REGRESSION:1:1101:185976960:185986960,SYNTHESIZER:1:REGRESSION:1:1101:188936360:188946360,SYNTHESIZER:1:REGRESSION:2:1101:114170330:114180330,SYNTHESIZER:1:REGRESSION:2:1101:141994820:142004820,SYNTHESIZER:1:REGRESSION:2:1101:157079590:157089590,SYNTHESIZER:1:REGRESSION:2:1101:162923440:162933440,SYNTHESIZER:1:REGRESSION:2:1101:177787000:177797000,SYNTHESIZER:1:REGRESSION:3:1101:119331150:119341150,SYNTHESIZER:1:REGRESSION:3:1101:131338300:131348300,SYNTHESIZER:1:REGRESSION:3:1101:139444180:139454180,SYNTHESIZER:1:REGRESSION:3:1101:152444590:152454590,SYNTHESIZER:1:REGRESSION:4:1101:142221230:142231230,SYNTHESIZER:1:REGRESSION:1:1101:106142050:106152050,SYNTHESIZER:1:REGRESSION:1:1101:162985760:162995760,SYNTHESIZER:1:REGRESSION:2:1101:140089430:140099430,SYNTHESIZER:1:REGRESSION:2:1101:174359880:174369880,SYNTHESIZER:1:REGRESSION:2:1101:178037280:178047280,SYNTHESIZER:1:REGRESSION:3:1101:180678360:180688360,SYNTHESIZER:1:REGRESSION:4:1101:168290960:168300960,SYNTHESIZER:1:REGRESSION:4:1101:182105480:182115480 chr1:156130773-chr1:156874906 0.04918032786885246 0.09333333333333334 0.07125683060109289 22 False PASS PAX8 PPARG -/- +/+ chr2:113235394 chr3:12379704 CDS/splice-site CDS/splice-site translocation 10 9 0 27 23 high in-frame . 'Paired_box'_domain(100%),Paired-box_protein_2_C_terminal(21%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) . . ENSG00000125618.18 ENSG00000132170.23 ENST00000681162.1 ENST00000287820.10 upstream upstream duplicates(4) CCAGTTCTAGCTCCACCCCTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCC SSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDF SYNTHESIZER:1:REGRESSION:1:1101:110557600:110567600,SYNTHESIZER:1:REGRESSION:1:1101:123685670:123695670,SYNTHESIZER:1:REGRESSION:1:1101:129145280:129155280,SYNTHESIZER:1:REGRESSION:2:1101:114157790:114167790,SYNTHESIZER:1:REGRESSION:2:1101:186829560:186839560,SYNTHESIZER:1:REGRESSION:3:1101:105790680:105800680,SYNTHESIZER:1:REGRESSION:3:1101:107887330:107897330,SYNTHESIZER:1:REGRESSION:3:1101:125391490:125401490,SYNTHESIZER:1:REGRESSION:4:1101:102689670:102699670,SYNTHESIZER:1:REGRESSION:4:1101:127808830:127818830,SYNTHESIZER:1:REGRESSION:4:1101:129188250:129198250,SYNTHESIZER:1:REGRESSION:4:1101:184155660:184165660,SYNTHESIZER:1:REGRESSION:1:1101:135873490:135883490,SYNTHESIZER:1:REGRESSION:1:1101:142667990:142677990,SYNTHESIZER:1:REGRESSION:1:1101:145413880:145423880,SYNTHESIZER:1:REGRESSION:1:1101:160896630:160906630,SYNTHESIZER:1:REGRESSION:1:1101:175591860:175601860,SYNTHESIZER:1:REGRESSION:3:1101:101222080:101232080,SYNTHESIZER:1:REGRESSION:3:1101:131073750:131083750,SYNTHESIZER:1:REGRESSION:3:1101:170907060:170917060,SYNTHESIZER:1:REGRESSION:3:1101:171041080:171051080,SYNTHESIZER:1:REGRESSION:4:1101:107114360:107124360,SYNTHESIZER:1:REGRESSION:4:1101:154504510:154514510 chr2:113235394-chr3:12379704 0.2702702702702703 0.28125 0.27576013513513514 19 False PASS ETV6 NTRK3 +/+ -/- chr12:11869969 chr15:87940753 CDS/splice-site CDS/splice-site translocation 13 6 0 167 10 high in-frame . Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000139083.11 ENSG00000140538.16 ENST00000396373.9 ENST00000394480.6 downstream downstream duplicates(3) CCGTGGATTTCAAACAGTCCAGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACC VDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSP SYNTHESIZER:1:REGRESSION:1:1101:108436840:108446840,SYNTHESIZER:1:REGRESSION:1:1101:117665360:117675360,SYNTHESIZER:1:REGRESSION:1:1101:143897140:143907140,SYNTHESIZER:1:REGRESSION:2:1101:109656140:109666140,SYNTHESIZER:1:REGRESSION:2:1101:170018500:170028500,SYNTHESIZER:1:REGRESSION:2:1101:177410840:177420840,SYNTHESIZER:1:REGRESSION:3:1101:112717140:112727140,SYNTHESIZER:1:REGRESSION:3:1101:115047590:115057590,SYNTHESIZER:1:REGRESSION:3:1101:122745210:122755210,SYNTHESIZER:1:REGRESSION:3:1101:142495850:142505850,SYNTHESIZER:1:REGRESSION:3:1101:163563280:163573280,SYNTHESIZER:1:REGRESSION:3:1101:167892680:167902680,SYNTHESIZER:1:REGRESSION:3:1101:176592440:176602440,SYNTHESIZER:1:REGRESSION:3:1101:193542040:193552040,SYNTHESIZER:1:REGRESSION:4:1101:107746990:107756990,SYNTHESIZER:1:REGRESSION:4:1101:180328560:180338560,SYNTHESIZER:1:REGRESSION:2:1101:114379060:114389060,SYNTHESIZER:1:REGRESSION:2:1101:187135080:187145080,SYNTHESIZER:1:REGRESSION:2:1101:194468760:194478760,SYNTHESIZER:1:REGRESSION:4:1101:125293000:125303000,SYNTHESIZER:1:REGRESSION:4:1101:142989740:142999740,SYNTHESIZER:1:REGRESSION:4:1101:199816980:199826980 chr12:11869969-chr15:87940753 0.07222222222222222 0.375 0.2236111111111111 19 False PASS EGFR SEPTIN14 +/+ -/- chr7:55200413 chr7:55796092 CDS/splice-site CDS/splice-site inversion 12 7 0 24 88 high in-frame . Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)| . . ENSG00000146648.19 ENSG00000154997.9 ENST00000275493.7 ENST00000388975.4 downstream downstream duplicates(3) AGATCTCCTCCATCCTGGAGAAAGGAGAACGCCTCCCTCAGCCACCCATATGTACCATCGATGTCTACATGATCATGGTCAAGT___GCTGGATGATAGACGCAGATAGTCGCCCAAAGTTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTCATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCCGAAGCAC ISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQ|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEA SYNTHESIZER:1:REGRESSION:1:1101:123837080:123847080,SYNTHESIZER:1:REGRESSION:1:1101:154211320:154221320,SYNTHESIZER:1:REGRESSION:1:1101:175887920:175897920,SYNTHESIZER:1:REGRESSION:1:1101:184009660:184019660,SYNTHESIZER:1:REGRESSION:1:1101:190825340:190835340,SYNTHESIZER:1:REGRESSION:3:1101:104460550:104470550,SYNTHESIZER:1:REGRESSION:3:1101:117301920:117311920,SYNTHESIZER:1:REGRESSION:3:1101:121939230:121949230,SYNTHESIZER:1:REGRESSION:3:1101:125998540:126008540,SYNTHESIZER:1:REGRESSION:3:1101:169791040:169801040,SYNTHESIZER:1:REGRESSION:4:1101:117795060:117805060,SYNTHESIZER:1:REGRESSION:4:1101:142980110:142990110,SYNTHESIZER:1:REGRESSION:4:1101:175531440:175541440,SYNTHESIZER:1:REGRESSION:4:1101:175621460:175631460,SYNTHESIZER:1:REGRESSION:1:1101:184188320:184198320,SYNTHESIZER:1:REGRESSION:2:1101:104544800:104554800,SYNTHESIZER:1:REGRESSION:2:1101:180866040:180876040,SYNTHESIZER:1:REGRESSION:2:1101:192037840:192047840,SYNTHESIZER:1:REGRESSION:3:1101:101331620:101341620,SYNTHESIZER:1:REGRESSION:3:1101:175966020:175976020,SYNTHESIZER:1:REGRESSION:3:1101:191697200:191707200,SYNTHESIZER:1:REGRESSION:4:1101:105963210:105973210 chr7:55200413-chr7:55796092 0.3333333333333333 0.07368421052631578 0.20350877192982456 19 False PASS FGFR3 BAIAP2L1 +/+ -/- chr4:1806934 chr7:98362432 CDS/splice-site CDS/splice-site translocation 16 1 0 70 9 high in-frame . Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|IRSp53/MIM_homology_domain(99%),Variant_SH3_domain(100%) . . ENSG00000068078.20 ENSG00000006453.14 ENST00000412135.7 ENST00000005260.9 downstream downstream duplicates(2) ACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTA CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKA SYNTHESIZER:1:REGRESSION:1:1101:102533240:102543240,SYNTHESIZER:1:REGRESSION:1:1101:133736800:133746800,SYNTHESIZER:1:REGRESSION:1:1101:162189670:162199670,SYNTHESIZER:1:REGRESSION:1:1101:165144720:165154720,SYNTHESIZER:1:REGRESSION:1:1101:165773160:165783160,SYNTHESIZER:1:REGRESSION:2:1101:157573110:157583110,SYNTHESIZER:1:REGRESSION:3:1101:104672530:104682530,SYNTHESIZER:1:REGRESSION:3:1101:114207430:114217430,SYNTHESIZER:1:REGRESSION:3:1101:125428790:125438790,SYNTHESIZER:1:REGRESSION:3:1101:154139900:154149900,SYNTHESIZER:1:REGRESSION:3:1101:156600120:156610120,SYNTHESIZER:1:REGRESSION:3:1101:166255480:166265480,SYNTHESIZER:1:REGRESSION:3:1101:177723880:177733880,SYNTHESIZER:1:REGRESSION:4:1101:121204890:121214890,SYNTHESIZER:1:REGRESSION:4:1101:167667880:167677880,SYNTHESIZER:1:REGRESSION:4:1101:176895300:176905300,SYNTHESIZER:1:REGRESSION:4:1101:181456980:181466980,SYNTHESIZER:1:REGRESSION:1:1101:159620770:159630770,SYNTHESIZER:1:REGRESSION:2:1101:153401020:153411020 chr4:1806934-chr7:98362432 0.18604651162790697 0.1 0.14302325581395348 17 False PASS AC015911.9 SLFN12L -/- -/- chr17:35522279 chr17:35480195 exon CDS/splice-site deletion/read-through 3 9 0 21 56 high . . |Putative_DNA-binding_domain(100%) . . ENSG00000286030.2 ENSG00000205045.11 ENST00000650652.2 ENST00000628453.3 upstream downstream duplicates(1) AGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTGAATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGGCTATAGTTATAAAAAAGATGGAATAGGGCT . SYNTHESIZER:1:REGRESSION:1:1101:149039200:149049200,SYNTHESIZER:1:REGRESSION:1:1101:181518160:181528160,SYNTHESIZER:1:REGRESSION:1:1101:187618760:187628760,SYNTHESIZER:1:REGRESSION:2:1101:112151520:112161520,SYNTHESIZER:1:REGRESSION:2:1101:180683420:180693420,SYNTHESIZER:1:REGRESSION:3:1101:177617500:177627500,SYNTHESIZER:1:REGRESSION:3:1101:183606380:183616380,SYNTHESIZER:1:REGRESSION:4:1101:101537850:101547850,SYNTHESIZER:1:REGRESSION:4:1101:137899530:137909530,SYNTHESIZER:1:REGRESSION:2:1101:101684050:101694050,SYNTHESIZER:1:REGRESSION:3:1101:144224670:144234670,SYNTHESIZER:1:REGRESSION:3:1101:147437680:147447680,SYNTHESIZER:1:REGRESSION:4:1101:169013400:169023400 chr17:35522279-chr17:35480195 0.125 0.13846153846153847 0.13173076923076923 12 False PASS NCOA4 RET -/- +/+ chr10:46012883 chr10:43116584 CDS/splice-site CDS/splice-site inversion 5 5 0 188 55 high in-frame . Nuclear_coactivator(62%)|Protein_kinase_domain(100%) . . ENSG00000266412.6 ENSG00000165731.20 ENST00000581486.6 ENST00000355710.8 upstream upstream duplicates(1),mismatches(1) TGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAG___AAGTCAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGG MAHASSANIGPFLEKRGCISMPEQKSASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRA SYNTHESIZER:1:REGRESSION:2:1101:113709440:113719440,SYNTHESIZER:1:REGRESSION:2:1101:139941720:139951720,SYNTHESIZER:1:REGRESSION:3:1101:115141820:115151820,SYNTHESIZER:1:REGRESSION:3:1101:129575110:129585110,SYNTHESIZER:1:REGRESSION:4:1101:108469140:108479140,SYNTHESIZER:1:REGRESSION:4:1101:152609140:152619140,SYNTHESIZER:1:REGRESSION:1:1101:123748870:123758870,SYNTHESIZER:1:REGRESSION:1:1101:146132110:146142110,SYNTHESIZER:1:REGRESSION:2:1101:132675980:132685980,SYNTHESIZER:1:REGRESSION:2:1101:184004760:184014760,SYNTHESIZER:1:REGRESSION:3:1101:167336160:167346160,SYNTHESIZER:1:REGRESSION:4:1101:142941020:142951020 chr10:46012883-chr10:43116584 0.025906735751295335 0.08333333333333333 0.05462003454231433 10 False PASS SLC45A3 BRAF -/- -/- chr1:205680394 chr7:140794467 5'UTR/splice-site CDS/splice-site translocation 2 6 0 2 184 high . . |Protein_kinase_domain(100%) . . ENSG00000158715.6 ENSG00000157764.14 ENST00000367145.4 ENST00000644969.2 upstream downstream . AAAAGCCGCCGGCTGGCGCGCGTGGGGGGCAAGGAAGGGGGGGCGGAACCAGCCTGCACGCGCTGGCTCCGGGTGACAGCCGCGCGCCTCGGCCAG|GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCCCAATGTGCA . SYNTHESIZER:1:REGRESSION:2:1101:113217710:113227710,SYNTHESIZER:1:REGRESSION:4:1101:194269680:194279680,SYNTHESIZER:1:REGRESSION:1:1101:102019990:102029990,SYNTHESIZER:1:REGRESSION:1:1101:114480240:114490240,SYNTHESIZER:1:REGRESSION:1:1101:151846950:151856950,SYNTHESIZER:1:REGRESSION:1:1101:180341680:180351680,SYNTHESIZER:1:REGRESSION:2:1101:177309360:177319360,SYNTHESIZER:1:REGRESSION:2:1101:183363880:183373880 chr1:205680394-chr7:140794467 0.5 0.031578947368421054 0.2657894736842105 8 False PASS EML4 ALK +/+ -/- chr2:42295516 chr2:29223528 CDS/splice-site CDS/splice-site inversion 2 4 0 102 18 high in-frame . HELP_motif(100%),WD_domain__G-beta_repeat(25%)|Protein_kinase_domain(100%) . . ENSG00000143924.19 ENSG00000171094.18 ENST00000318522.10 ENST00000389048.8 downstream downstream . TGAAAAGCCAAAATTTGTGCAGTGTTTAGCATTCTTGGGGAATGGAGATGTTCTTACTGGAGACTCAGGTGGAGTCATGCTTATATGGAGCAAAACTACTGTAGAGCCCACACCTGGGAAAGGACCTAAAG|TGTACCGCCGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTGAGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCCAACTACTGaTTTGCTGGCAAGACCTCCTCCATCAGTGACCTGAAGGAGGTGCCGCGGAAAAACATCACCC EKPKFVQCLAFLGNGDVLTGDSGGVMLIWSKTTVEPTPGKGPK|vYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYNPNY* SYNTHESIZER:1:REGRESSION:1:1101:135792610:135802610,SYNTHESIZER:1:REGRESSION:2:1101:177669960:177679960,SYNTHESIZER:1:REGRESSION:3:1101:151282770:151292770,SYNTHESIZER:1:REGRESSION:4:1101:135316850:135326850,SYNTHESIZER:1:REGRESSION:1:1101:128262090:128272090,SYNTHESIZER:1:REGRESSION:4:1101:186659800:186669800 chr2:42295516-chr2:29223528 0.019230769230769232 0.18181818181818182 0.10052447552447552 6 False FAIL total_reads_below_min(6.0<8.0) TFG NTRK1 +/+ +/+ chr3:100732672 chr1:156874571 CDS/splice-site CDS/splice-site translocation 4 2 0 284 19 high in-frame . PB1_domain(100%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) . . ENSG00000114354.15 ENSG00000198400.13 ENST00000675047.1 ENST00000392302.7 downstream upstream . CAAGTCAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAGTGAATCGTTTATTGGATAGCTTGGAACCACCTGGAGAACCAGGACCTTCCACCAATATTCCTGAAAATG___ATACTGTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTTATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAATGTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGAC SQVKYLRRELIELRNKVNRLLDSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKNVMSAFGLTDDQVS|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCG SYNTHESIZER:1:REGRESSION:1:1101:165780740:165790740,SYNTHESIZER:1:REGRESSION:1:1101:168587920:168597920,SYNTHESIZER:1:REGRESSION:1:1101:106200170:106210170,SYNTHESIZER:1:REGRESSION:1:1101:125502780:125512780,SYNTHESIZER:1:REGRESSION:2:1101:185402840:185412840,SYNTHESIZER:1:REGRESSION:3:1101:177292020:177302020 chr3:100732672-chr1:156874571 0.013888888888888888 0.09523809523809523 0.054563492063492064 6 False FAIL total_reads_below_min(6.0<8.0) SLC34A2 ROS1 +/+ -/- chr4:25664330 chr6:117324415 CDS/splice-site CDS/splice-site translocation 1 4 1 5 12 high in-frame . Na+/Pi-cotransporter(8%)|Protein_kinase_domain(100%) . . ENSG00000157765.13 ENSG00000047936.11 ENST00000645788.1 ENST00000368507.8 downstream downstream . CTCCACGGCTACACTGATAGATGAGCCCACTGAGGTGGATGACCCCTGGAACCTACCCACTCTTCAGGACTCGGGGATCAAGTGGTCAG___AGAGAGACACCAAAGGGAAGATTCTCTGTTTCTTCCAAGGGATTGGGAGATTGATTTTACTTCTCGGATTTCTCTACTTTTTCGTGTGCTCCCTGGATATTCTTAGTAGCGCCTTCCAGCTGGTTGGAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGGCTAATGtCTGCTATGCAATACA___TACTCTTCCAACCCAAGAGGAG STATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVG|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLINEDKELAELRGLAAGVGLANvCYAIHTLPTQE SYNTHESIZER:1:REGRESSION:4:1101:167453070:167463070,SYNTHESIZER:1:REGRESSION:1:1101:130977870:130987870,SYNTHESIZER:1:REGRESSION:2:1101:141828610:141838610,SYNTHESIZER:1:REGRESSION:3:1101:115479950:115489950,SYNTHESIZER:1:REGRESSION:4:1101:136724050:136734050,SYNTHESIZER:1:REGRESSION:3:1101:105933070:105943070 chr4:25664330-chr6:117324415 0.23076923076923078 0.2727272727272727 0.2517482517482518 6 False FAIL total_reads_below_min(6.0<8.0) CCDC6 RET -/- +/+ chr10:59906122 chr10:43116584 CDS/splice-site CDS/splice-site inversion 2 4 0 106 55 high in-frame . Uncharacterized_conserved_protein_H4_(DUF2046)(17%)|Protein_kinase_domain(100%) . . ENSG00000108091.11 ENSG00000165731.20 ENST00000263102.7 ENST00000355710.8 upstream upstream duplicates(1),mismatches(1) CACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCTGAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATC|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGA TNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTI|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG SYNTHESIZER:1:REGRESSION:2:1101:128771480:128781480,SYNTHESIZER:1:REGRESSION:4:1101:159869100:159879100,SYNTHESIZER:1:REGRESSION:4:1101:163503910:163513910,SYNTHESIZER:1:REGRESSION:4:1101:195935080:195945080,SYNTHESIZER:1:REGRESSION:1:1101:109089400:109099400,SYNTHESIZER:1:REGRESSION:1:1101:175824400:175834400,SYNTHESIZER:1:REGRESSION:3:1101:127963900:127973900,SYNTHESIZER:1:REGRESSION:3:1101:182731840:182741840 chr10:59906122-chr10:43116584 0.018518518518518517 0.06779661016949153 0.04315756434400502 6 False FAIL total_reads_below_min(6.0<8.0) TPM3 NTRK1 -/- +/+ chr1:154170400 chr1:156874571 CDS/splice-site CDS/splice-site inversion 2 3 1 676 19 high in-frame . Tropomyosin(78%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) . . ENSG00000143549.21 ENSG00000198400.13 ENST00000271850.11 ENST00000392302.7 upstream upstream mismatches(1) GGATGAGCAGATTAGACTGATGGACCAGAACCTGAAGTGTCTGAGTGCTGCcGAAGAAAAG___TACTCTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACCG DEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGIN SYNTHESIZER:1:REGRESSION:3:1101:155802760:155812760,SYNTHESIZER:1:REGRESSION:3:1101:175273260:175283260,SYNTHESIZER:1:REGRESSION:1:1101:170819600:170829600,SYNTHESIZER:1:REGRESSION:2:1101:178201220:178211220,SYNTHESIZER:1:REGRESSION:3:1101:100245160:100255160,SYNTHESIZER:1:REGRESSION:4:1101:121317540:121327540,SYNTHESIZER:1:REGRESSION:2:1101:188988440:188998440 chr1:154170400-chr1:156874571 0.0036845983787767134 0.15555555555555556 0.07962007696716614 6 False FAIL total_reads_below_min(6.0<8.0) ACIN1 ACIN1 -/- -/- chr14:23079590 chr14:23079595 CDS CDS duplication/ITD 21 57 0 81 140 medium in-frame . SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%) . . ENSG00000100813.14 ENSG00000100813.14 ENST00000262710.5 ENST00000262710.5 upstream downstream duplicates(18),mismappers(3) AGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACAACTGCAGG GSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQ SYNTHESIZER:1:REGRESSION:1:1101:105445720:105455720,SYNTHESIZER:1:REGRESSION:1:1101:106362530:106372530,SYNTHESIZER:1:REGRESSION:1:1101:125537470:125547470,SYNTHESIZER:1:REGRESSION:1:1101:127220540:127230540,SYNTHESIZER:1:REGRESSION:1:1101:157595730:157605730,SYNTHESIZER:1:REGRESSION:1:1101:185505680:185515680,SYNTHESIZER:1:REGRESSION:1:1101:191942800:191952800,SYNTHESIZER:1:REGRESSION:2:1101:116068070:116078070,SYNTHESIZER:1:REGRESSION:2:1101:119248530:119258530,SYNTHESIZER:1:REGRESSION:2:1101:167850600:167860600,SYNTHESIZER:1:REGRESSION:2:1101:168637080:168647080,SYNTHESIZER:1:REGRESSION:2:1101:173692320:173702320,SYNTHESIZER:1:REGRESSION:2:1101:192669920:192679920,SYNTHESIZER:1:REGRESSION:3:1101:101209400:101219400,SYNTHESIZER:1:REGRESSION:3:1101:157031320:157041320,SYNTHESIZER:1:REGRESSION:3:1101:174353840:174363840,SYNTHESIZER:1:REGRESSION:3:1101:177220200:177230200,SYNTHESIZER:1:REGRESSION:4:1101:108469720:108479720,SYNTHESIZER:1:REGRESSION:4:1101:130684250:130694250,SYNTHESIZER:1:REGRESSION:4:1101:132802670:132812670,SYNTHESIZER:1:REGRESSION:4:1101:139739390:139749390,SYNTHESIZER:1:REGRESSION:4:1101:170044280:170054280,SYNTHESIZER:1:REGRESSION:4:1101:170357280:170367280,SYNTHESIZER:1:REGRESSION:4:1101:173083760:173093760,SYNTHESIZER:1:REGRESSION:4:1101:174281320:174291320,SYNTHESIZER:1:REGRESSION:4:1101:183138520:183148520,SYNTHESIZER:1:REGRESSION:4:1101:195647680:195657680,SYNTHESIZER:1:REGRESSION:4:1101:197404840:197414840,SYNTHESIZER:1:REGRESSION:1:1101:107644630:107654630,SYNTHESIZER:1:REGRESSION:1:1101:108262870:108272870,SYNTHESIZER:1:REGRESSION:1:1101:109230560:109240560,SYNTHESIZER:1:REGRESSION:1:1101:111791600:111801600,SYNTHESIZER:1:REGRESSION:1:1101:119834890:119844890,SYNTHESIZER:1:REGRESSION:1:1101:139120910:139130910,SYNTHESIZER:1:REGRESSION:1:1101:142921410:142931410,SYNTHESIZER:1:REGRESSION:1:1101:145949590:145959590,SYNTHESIZER:1:REGRESSION:1:1101:166708930:166718930,SYNTHESIZER:1:REGRESSION:1:1101:167333540:167343540,SYNTHESIZER:1:REGRESSION:1:1101:171716040:171726040,SYNTHESIZER:1:REGRESSION:1:1101:175397320:175407320,SYNTHESIZER:1:REGRESSION:1:1101:198949820:198959820,SYNTHESIZER:1:REGRESSION:2:1101:114013270:114023270,SYNTHESIZER:1:REGRESSION:2:1101:118917690:118927690,SYNTHESIZER:1:REGRESSION:2:1101:121653740:121663740,SYNTHESIZER:1:REGRESSION:2:1101:122059000:122069000,SYNTHESIZER:1:REGRESSION:2:1101:122293190:122303190,SYNTHESIZER:1:REGRESSION:2:1101:122350510:122360510,SYNTHESIZER:1:REGRESSION:2:1101:147834940:147844940,SYNTHESIZER:1:REGRESSION:2:1101:149349990:149359990,SYNTHESIZER:1:REGRESSION:2:1101:154779030:154789030,SYNTHESIZER:1:REGRESSION:2:1101:157362630:157372630,SYNTHESIZER:1:REGRESSION:2:1101:163551380:163561380,SYNTHESIZER:1:REGRESSION:2:1101:164567960:164577960,SYNTHESIZER:1:REGRESSION:2:1101:164656320:164666320,SYNTHESIZER:1:REGRESSION:2:1101:170068880:170078880,SYNTHESIZER:1:REGRESSION:2:1101:170775720:170785720,SYNTHESIZER:1:REGRESSION:2:1101:172624040:172634040,SYNTHESIZER:1:REGRESSION:2:1101:177801520:177811520,SYNTHESIZER:1:REGRESSION:2:1101:179508860:179518860,SYNTHESIZER:1:REGRESSION:2:1101:181866760:181876760,SYNTHESIZER:1:REGRESSION:2:1101:190550360:190560360,SYNTHESIZER:1:REGRESSION:2:1101:191629320:191639320,SYNTHESIZER:1:REGRESSION:2:1101:195436120:195446120,SYNTHESIZER:1:REGRESSION:3:1101:111656930:111666930,SYNTHESIZER:1:REGRESSION:3:1101:117297590:117307590,SYNTHESIZER:1:REGRESSION:3:1101:129022200:129032200,SYNTHESIZER:1:REGRESSION:3:1101:129056400:129066400,SYNTHESIZER:1:REGRESSION:3:1101:137538680:137548680,SYNTHESIZER:1:REGRESSION:3:1101:146366250:146376250,SYNTHESIZER:1:REGRESSION:3:1101:152968590:152978590,SYNTHESIZER:1:REGRESSION:3:1101:163973920:163983920,SYNTHESIZER:1:REGRESSION:3:1101:176636800:176646800,SYNTHESIZER:1:REGRESSION:3:1101:177154880:177164880,SYNTHESIZER:1:REGRESSION:3:1101:185351960:185361960,SYNTHESIZER:1:REGRESSION:3:1101:187516920:187526920,SYNTHESIZER:1:REGRESSION:3:1101:191137600:191147600,SYNTHESIZER:1:REGRESSION:3:1101:195222900:195232900,SYNTHESIZER:1:REGRESSION:3:1101:195861240:195871240,SYNTHESIZER:1:REGRESSION:4:1101:103869670:103879670,SYNTHESIZER:1:REGRESSION:4:1101:105035070:105045070,SYNTHESIZER:1:REGRESSION:4:1101:106459260:106469260,SYNTHESIZER:1:REGRESSION:4:1101:115272560:115282560,SYNTHESIZER:1:REGRESSION:4:1101:121678600:121688600,SYNTHESIZER:1:REGRESSION:4:1101:124636450:124646450,SYNTHESIZER:1:REGRESSION:4:1101:129444890:129454890,SYNTHESIZER:1:REGRESSION:4:1101:143353870:143363870,SYNTHESIZER:1:REGRESSION:4:1101:145435230:145445230,SYNTHESIZER:1:REGRESSION:4:1101:145830570:145840570,SYNTHESIZER:1:REGRESSION:4:1101:150513300:150523300,SYNTHESIZER:1:REGRESSION:4:1101:154490280:154500280,SYNTHESIZER:1:REGRESSION:4:1101:158881780:158891780,SYNTHESIZER:1:REGRESSION:4:1101:161767560:161777560,SYNTHESIZER:1:REGRESSION:4:1101:170877680:170887680,SYNTHESIZER:1:REGRESSION:4:1101:171195840:171205840,SYNTHESIZER:1:REGRESSION:4:1101:174259640:174269640,SYNTHESIZER:1:REGRESSION:4:1101:175427840:175437840,SYNTHESIZER:1:REGRESSION:4:1101:181343860:181353860,SYNTHESIZER:1:REGRESSION:4:1101:190464500:190474500,SYNTHESIZER:1:REGRESSION:4:1101:196519680:196529680 chr14:23079590-chr14:23079595 0.20588235294117646 0.2893401015228426 0.24761122723200954 78 True aih_curated_blacklist score(3) FAIL confidence_below_min(medium