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- Filename
- aih-tih-sc-fba77b-R1_A23YTGFLT4_1.arriba.fusions.tsv
- Full Path
- s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/4e/e4344650f1e16db782a63bd8734140/aih-tih-sc-fba77b-R1_A23YTGFLT4_1.arriba.fusions.tsv
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- 8.9 KB
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Content
View in new tab| #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 |
| ATP9A | WRN | -/- | +/+ | chr20:51768302 | chr8:31167022 | CDS/splice-site | CDS/splice-site | translocation | 4 | 4 | 0 | 796 | 40 | high | out-of-frame | . | |Helix-turn-helix_domain(25%) | . | . | ENSG00000054793.14 | ENSG00000165392.11 | ENST00000338821.6 | ENST00000298139.7 | upstream | upstream | duplicates(37) | CGGACAACATCCCGCTGCAGCCGGTGCGCCAGAAGAAGCGGATGGACAGCAGGCCCCGCGCCGG|ATATGAGTAAAATTAGCCTAATCAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCCACATGGCAATTGAGATCCTTAAA | DNIPLQPVRQKKRMDSRPRAg|ye* | LH00995:48:23YTGFLT4:1:1108:18143:21948,LH00995:48:23YTGFLT4:1:1481:19413:2513,LH00995:48:23YTGFLT4:1:2135:44662:23826,LH00995:48:23YTGFLT4:2:1180:33740:21920,LH00995:48:23YTGFLT4:2:1286:10409:25423,LH00995:48:23YTGFLT4:3:2433:35981:17282,LH00995:48:23YTGFLT4:4:1239:23425:24373,LH00995:48:23YTGFLT4:4:1239:23434:24387,LH00995:48:23YTGFLT4:5:1257:32138:25115,LH00995:48:23YTGFLT4:5:1271:30795:29207,LH00995:48:23YTGFLT4:5:1428:2820:8076,LH00995:48:23YTGFLT4:5:2392:13806:19931,LH00995:48:23YTGFLT4:5:2483:21071:1967,LH00995:48:23YTGFLT4:6:2266:23660:6647,LH00995:48:23YTGFLT4:6:2334:27810:12714,LH00995:48:23YTGFLT4:6:2453:47064:6745,LH00995:48:23YTGFLT4:7:2484:51045:2037,LH00995:48:23YTGFLT4:8:1323:31993:3480,LH00995:48:23YTGFLT4:1:1120:31758:6269,LH00995:48:23YTGFLT4:1:1253:48351:16484,LH00995:48:23YTGFLT4:1:1428:42097:10781,LH00995:48:23YTGFLT4:1:2154:12795:20954,LH00995:48:23YTGFLT4:1:2270:1639:4349,LH00995:48:23YTGFLT4:1:2381:19041:25185,LH00995:48:23YTGFLT4:3:1412:7974:23588,LH00995:48:23YTGFLT4:3:1426:39460:11089,LH00995:48:23YTGFLT4:3:2289:30650:12616,LH00995:48:23YTGFLT4:4:1254:6364:3396,LH00995:48:23YTGFLT4:4:1273:52177:11425,LH00995:48:23YTGFLT4:5:1104:7108:1939,LH00995:48:23YTGFLT4:5:1106:39007:16077,LH00995:48:23YTGFLT4:5:1483:25683:29347,LH00995:48:23YTGFLT4:5:1485:12350:16035,LH00995:48:23YTGFLT4:5:2187:51344:14662,LH00995:48:23YTGFLT4:6:2123:15918:16301,LH00995:48:23YTGFLT4:6:2350:49483:14410,LH00995:48:23YTGFLT4:7:1323:9122:22663,LH00995:48:23YTGFLT4:7:1328:45924:27105,LH00995:48:23YTGFLT4:7:1361:2205:13653,LH00995:48:23YTGFLT4:7:1461:26500:19720,LH00995:48:23YTGFLT4:7:1461:48569:18067,LH00995:48:23YTGFLT4:8:1229:41410:4909,LH00995:48:23YTGFLT4:8:1232:20723:4699,LH00995:48:23YTGFLT4:8:2232:24728:2948,LH00995:48:23YTGFLT4:8:2401:34468:8300 |
| ATP9A | WRN | -/- | +/+ | chr20:51768302 | chr8:31172995 | CDS/splice-site | CDS/splice-site | translocation | 0 | 1 | 0 | 796 | 238 | low | out-of-frame | . | . | . | . | ENSG00000054793.14 | ENSG00000165392.11 | ENST00000338821.6 | ENST00000298139.7 | upstream | upstream | duplicates(9) | CCAGAAGAAGCGGATGGACAGCAGGCCCCGCGCCGG|ACTTCATCTGCAGAGAGAAAGAGACGATTACCTGTGTGGTTTGCCAAAGGAAGTGATACCAGC | QKKRMDSRPRAg|lhlqrerddylcglpkevip | LH00995:48:23YTGFLT4:3:2233:41490:1378,LH00995:48:23YTGFLT4:3:2282:29574:4335,LH00995:48:23YTGFLT4:4:1118:18725:10402,LH00995:48:23YTGFLT4:4:2232:17714:6857,LH00995:48:23YTGFLT4:5:1155:6267:3060,LH00995:48:23YTGFLT4:5:2106:42712:21654,LH00995:48:23YTGFLT4:6:1423:35099:14017,LH00995:48:23YTGFLT4:6:1459:14179:17324,LH00995:48:23YTGFLT4:6:1459:14187:17338,LH00995:48:23YTGFLT4:7:2273:22366:2948 |
| DNAH2 | HNRNPU | +/+ | -/- | chr17:7729423 | chr1:244855606 | intron | CDS/splice-site | translocation | 0 | 2 | 0 | 0 | 789 | medium | . | . | . | . | . | ENSG00000183914.14 | ENSG00000153187.20 | . | ENST00000640306.1 | downstream | downstream | . | AGAGAGAGAGAGAGAGGAGGAGCC|CCTGGGAATCGTGGCGGATATAATAGGAGGGGCAACATGCCACAGAGAGGTGGTGGCGGTGGAGGAAGTGGTGGAATCGGCTATCCATACCCTCGTGCCCCTGTTTTTCCT | . | LH00995:48:23YTGFLT4:2:2237:14607:24681,LH00995:48:23YTGFLT4:6:2325:34679:3032 |
| NPRL3 | NPRL3 | -/- | -/- | chr16:92644 | chr16:92691 | CDS | CDS | duplication/ITD | 5 | 5 | 0 | 344 | 344 | low | in-frame | . | Nitrogen_Permease_regulator_of_amino_acid_transport_activity_3(86%)|Nitrogen_Permease_regulator_of_amino_acid_transport_activity_3(17%) | . | . | ENSG00000103148.17 | ENSG00000103148.17 | ENST00000611875.5 | ENST00000611875.5 | upstream | downstream | duplicates(20) | CGTCTACATGCTGTCTCCCAATGCCAGCGTATGTCT___GTACTCCCCGCTGGCCGAGCAGTTCTCCCACCAGTTCCCATCTCATGACCTGCCGTCCGTTCTTGCCAAGTTCTCCcacCaG|TTCCCATCTCATGACCTGCCGTCCGTTCTTGCCAAGTTCTCCcacCaG | VYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFShq|FPSHDLPSVLAKFSh | LH00995:48:23YTGFLT4:1:1284:28522:7109,LH00995:48:23YTGFLT4:1:1367:38918:1883,LH00995:48:23YTGFLT4:2:2157:11388:9323,LH00995:48:23YTGFLT4:4:1373:8872:29011,LH00995:48:23YTGFLT4:4:1435:39023:5064,LH00995:48:23YTGFLT4:4:2236:46895:3004,LH00995:48:23YTGFLT4:5:1163:28927:7502,LH00995:48:23YTGFLT4:5:2442:48780:28548,LH00995:48:23YTGFLT4:6:1325:10028:29557,LH00995:48:23YTGFLT4:6:2290:25351:18627,LH00995:48:23YTGFLT4:7:1126:6728:19384,LH00995:48:23YTGFLT4:7:2455:32341:12070,LH00995:48:23YTGFLT4:7:2482:19567:22929,LH00995:48:23YTGFLT4:8:2153:35779:14970,LH00995:48:23YTGFLT4:8:2204:28134:26979,LH00995:48:23YTGFLT4:1:1284:28522:7109,LH00995:48:23YTGFLT4:1:1367:38918:1883,LH00995:48:23YTGFLT4:2:2157:11388:9323,LH00995:48:23YTGFLT4:4:1373:8872:29011,LH00995:48:23YTGFLT4:4:1435:39023:5064,LH00995:48:23YTGFLT4:4:2236:46895:3004,LH00995:48:23YTGFLT4:5:1163:28927:7502,LH00995:48:23YTGFLT4:5:2442:48780:28548,LH00995:48:23YTGFLT4:6:1325:10028:29557,LH00995:48:23YTGFLT4:6:2290:25351:18627,LH00995:48:23YTGFLT4:7:1126:6728:19384,LH00995:48:23YTGFLT4:7:2455:32341:12070,LH00995:48:23YTGFLT4:7:2482:19567:22929,LH00995:48:23YTGFLT4:8:2153:35779:14970,LH00995:48:23YTGFLT4:8:2204:28134:26979 |
| TVP23C | CDRT4 | -/- | -/- | chr17:15503098 | chr17:15438200 | CDS | CDS/splice-site | deletion/read-through | 1 | 2 | 0 | 207 | 217 | low | out-of-frame | . | Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%) | . | . | ENSG00000175106.17 | ENSG00000239704.11 | ENST00000225576.7 | ENST00000619038.5 | upstream | downstream | duplicates(11) | CTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGC | LKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|dsqktldfpgsylknmtpgrpmspiplrq* | LH00995:48:23YTGFLT4:1:1101:20829:4265,LH00995:48:23YTGFLT4:1:2191:32203:29403,LH00995:48:23YTGFLT4:1:2302:36192:5932,LH00995:48:23YTGFLT4:4:2339:6477:10767,LH00995:48:23YTGFLT4:4:2444:12828:17675,LH00995:48:23YTGFLT4:5:2239:40827:20043,LH00995:48:23YTGFLT4:5:2264:41547:2794,LH00995:48:23YTGFLT4:6:1357:21346:5246,LH00995:48:23YTGFLT4:7:2459:48318:3004,LH00995:48:23YTGFLT4:8:1233:18199:9716,LH00995:48:23YTGFLT4:8:1387:49006:21262,LH00995:48:23YTGFLT4:1:1266:27737:3957,LH00995:48:23YTGFLT4:8:2345:7998:21388,LH00995:48:23YTGFLT4:8:2415:4357:16315 |
| TVP23C | CDRT4 | -/- | -/- | chr17:15540433 | chr17:15438200 | CDS/splice-site | CDS/splice-site | deletion/read-through | 0 | 1 | 0 | 342 | 217 | low | out-of-frame | . | Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%) | . | . | ENSG00000175106.17 | ENSG00000239704.11 | ENST00000428082.6 | ENST00000619038.5 | upstream | downstream | duplicates(2) | GCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCC | HLTSMATSYFGKQFLRQ|dsqktldfpgsylknmt | LH00995:48:23YTGFLT4:2:1356:45997:26671,LH00995:48:23YTGFLT4:2:1411:38869:16119,LH00995:48:23YTGFLT4:3:2477:8564:18613 |
| TVP23C | CDRT4 | -/- | -/- | chr17:15540433 | chr17:15440285 | CDS/splice-site | 5'UTR/splice-site | deletion/read-through | 0 | 0 | 0 | 342 | 22 | low | out-of-frame | . | Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%) | . | . | ENSG00000175106.17 | ENSG00000239704.11 | ENST00000428082.6 | ENST00000619038.5 | upstream | downstream | duplicates(3),low_entropy(1) | TTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCC | LRQ|esepvmlrnq* | LH00995:48:23YTGFLT4:1:2255:49969:5470,LH00995:48:23YTGFLT4:2:1496:14462:18880,LH00995:48:23YTGFLT4:5:2334:17779:21598,LH00995:48:23YTGFLT4:8:2464:21411:3060 |
| MROH1 | FUT10 | +/+ | -/- | chr8:144148076 | chr8:33389798 | 5'UTR/splice-site | CDS/splice-site | inversion | 0 | 1 | 0 | 1 | 134 | low | . | . | |Fucosyltransferase__N-terminal(55%),Glycosyltransferase_family_10_(fucosyltransferase)_C-term(100%) | . | . | ENSG00000179832.17 | ENSG00000172728.16 | ENST00000532255.5 | ENST00000327671.10 | downstream | downstream | duplicates(2) | GGCCGAGGTGGCGGCGGCTCCTCAG|GTACTGACTTTAACATAGATAGCTTACCTCTGCCTCGGAAAGCCCATCATGACTGGGCTGTTTTTCATGAAGAGTCCCCGAAAAACAATTATAA | . | LH00995:48:23YTGFLT4:1:2293:39152:14116,LH00995:48:23YTGFLT4:3:1201:22924:4447,LH00995:48:23YTGFLT4:4:2440:28724:9814 |
| MROH1 | FUT10 | +/+ | -/- | chr8:144148712 | chr8:33389798 | 5'UTR/splice-site | CDS/splice-site | inversion | 1 | 0 | 0 | 25 | 134 | low | . | . | |Fucosyltransferase__N-terminal(55%),Glycosyltransferase_family_10_(fucosyltransferase)_C-term(100%) | . | . | ENSG00000179832.17 | ENSG00000172728.16 | ENST00000534366.5 | ENST00000327671.10 | downstream | downstream | duplicates(1) | GCATAGCGCTGGCAGGGCCGCCGGGAGCCAGCCCTCACTCAGCCAAG|GTACTGACTTTAACATAGATAGCTTACCTtTGCC | . | LH00995:48:23YTGFLT4:3:1211:19639:23644,LH00995:48:23YTGFLT4:8:1378:12900:3704 |
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