File Info
- Filename
- SkinN_FFPE_L09_RNA_01_B23LG7FLT4_1.arriba.fusions.tsv
- Full Path
- s3://natera-platform-sandbox/pipeline-outputs/cgp_runs/nextflow/dev_rna_exp0008_exp0011/B23LG7FLT4/nfcore_rnafusion__e7be3c7a--20260528-111100/arriba/SkinN_FFPE_L09_RNA_01_B23LG7FLT4_1.arriba.fusions.tsv
- Size
- 152.1 KB
- Workflow Run
- dev_rna_exp0008_exp0011-e7be3c7a_b
- Published
- May 28, 2026 5:12 PM
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 |
| ZNF676 | KANK3 | -/- | -/- | chr19:22193016 | chr19:8325096 | CDS/splice-site | CDS/splice-site | deletion | 16 | 4 | 0 | 385 | 413 | high | stop-codon | . | KRAB_box(100%)|Ankyrin_repeats_(3_copies)(26%),Ankyrin_repeats_(many_copies)(50%) | . | . | ENSG00000196109.9 | ENSG00000186994.11 | ENST00000650058.1 | ENST00000330915.7 | upstream | downstream | duplicates(128),mismatches(3) | CACAACTAAGTCGCCAGGACCCCCTGGAAGCCTAGAAATG___GTATTGCTGCCTTTAAGCCAGACCTGATCATTTTTCTGGAGCAAGaAAAAGAGCCCTGGAATATGAAGAGACATGAGATGGTGGAAGAACCCCCAG|GGGCCTGCGAGGTCAACCGCCAGAACCGAGCCGGCTACTCGGCCCTCATGCTGGCTGCACTCACCTCTGTGAGGCAGGAAGAGGAGGA | . | 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|
| ZNF676 | KANK3 | -/- | -/- | chr19:22215632 | chr19:8325096 | CDS/splice-site | CDS/splice-site | deletion | 1 | 0 | 0 | 383 | 413 | low | out-of-frame | . | |Ankyrin_repeats_(3_copies)(26%),Ankyrin_repeats_(many_copies)(50%) | . | . | ENSG00000196109.9 | ENSG00000186994.11 | ENST00000650058.1 | ENST00000330915.7 | upstream | downstream | duplicates(9) | AAAGGCCTTGTCCTTACTGcTCCTAGAGTCCCAGCCTCTGTGGCCCTATGACCTGCAGGTATTGGGAGATCCACAACTAAGTCGCCAGGACCCCCTGGAAGCCTAGAAATG|GGGCCTGCGAGGTCAACCGCC | M|gparst | LH00166:238:23LG7FLT4:5:1430:30189:19973,LH00166:238:23LG7FLT4:5:2166:30868:8903,LH00166:238:23LG7FLT4:5:2218:51279:2667,LH00166:238:23LG7FLT4:5:2368:32591:19258,LH00166:238:23LG7FLT4:5:2478:24590:10248,LH00166:238:23LG7FLT4:6:1162:1299:23994,LH00166:238:23LG7FLT4:6:1351:47647:2401,LH00166:238:23LG7FLT4:6:2488:34169:6689,LH00166:238:23LG7FLT4:7:1330:46102:17464,LH00166:238:23LG7FLT4:7:1364:13095:26937 |
| PARG | BMS1 | -/- | +/+ | chr10:49885203 | chr10:42791627 | CDS/splice-site | CDS/splice-site | inversion | 8 | 3 | 0 | 867 | 472 | high | in-frame | . | Poly_(ADP-ribose)_glycohydrolase_(PARG)(8%)|40S_ribosome_biogenesis_protein_Tsr1_and_BMS1_C-terminal(100%),AARP2CN_(NUC121)_domain(100%) | . | . | ENSG00000227345.9 | ENSG00000165733.8 | ENST00000402038.7 | ENST00000374518.6 | upstream | upstream | duplicates(162),mismatches(10) | GCTTTGgTCGATTTCTGGGATAAG___GTACTTGAAGAAGCAGAAGCTCAACATTTATATCAGTCCATCTTGCCTGATATGGTGAAAATTGCACTCTGTCTGCCAAATATTTGCACCCAG|GGTGtCAAGCTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCGTTTTATTACAGTTATGAAGTTTAGG?tTCTC | ALvDFWDKVLEEAEAQHLYQSILPDMVKIALCLPNICTQ|GvKLFYLSGMVHGEYQNQEIHNLGRFITVMKFR? | 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|
| MIDEAS | MIDEAS | -/- | -/- | chr14:73739239 | chr14:73739247 | CDS | CDS | duplication/ITD | 47 | 33 | 0 | 6448 | 5743 | medium | in-frame | . | |ELM2_domain(100%) | . | . | ENSG00000156030.13 | ENSG00000156030.13 | ENST00000394071.6 | ENST00000394071.6 | upstream | downstream | duplicates(472),low_entropy(59) | GGCCACCAGGTGAACCGGCAGGTCTTCCGGCAGGGCCCACCGCCCCCAAACCCGGTGGCTGCCTTCCCTCCACAGAAGCAGCAGCAGCAGCAGCAACCACAGCAGCA|ACAGCAGCAGCAGCAGCAGCAGCAGGCAGCCCTACCCCAGATGCCGCTCTTTGAGAACTTCTATTCCATGCCGCAGCAACCCTCGC | GHQVNRQVFRQGPPPPNPVAAFPPQKQQQQQQPQQq|QQQQQQQQAALPQMPLFENFYSMPQQPS | 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|
| ACIN1 | ACIN1 | -/- | -/- | chr14:23079590 | chr14:23079595 | CDS | CDS | duplication/ITD | 21 | 40 | 0 | 1977 | 2059 | medium | in-frame | . | SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%) | . | . | ENSG00000100813.14 | ENSG00000100813.14 | ENST00000262710.5 | ENST00000262710.5 | upstream | downstream | duplicates(520),mismappers(19) | TTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAG | SPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETK | 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|
| PRUNE2 | PRUNE2 | -/- | -/- | chr9:76709219 | chr9:76709230 | CDS | CDS | duplication/ITD | 1 | 19 | 0 | 1383 | 1323 | medium | in-frame | . | DHHA2_domain(100%)|Bcl2-/adenovirus_E1B_nineteen_kDa-interacting_protein_2(100%),Divergent_CRAL/TRIO_domain(100%) | . | . | ENSG00000106772.18 | ENSG00000106772.18 | ENST00000376718.8 | ENST00000376718.8 | upstream | downstream | duplicates(229) | GGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACT | AEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENE | LH00166:238:23LG7FLT4:5:1394:2626:14662,LH00166:238:23LG7FLT4:5:2298:20359:9421,LH00166:238:23LG7FLT4:5:2441:50082:23378,LH00166:238:23LG7FLT4:6:1319:21905:10220,LH00166:238:23LG7FLT4:5:1108:11557:3396,LH00166:238:23LG7FLT4:5:1109:13758:3088,LH00166:238:23LG7FLT4:5:1115:29639:24737,LH00166:238:23LG7FLT4:5:1129:14713:11916,LH00166:238:23LG7FLT4:5:1178:18733:17450,LH00166:238:23LG7FLT4:5:1180:24283:21234,LH00166:238:23LG7FLT4:5:1215:27859:12658,LH00166:238:23LG7FLT4:5:1252:1380:21640,LH00166:238:23LG7FLT4:5:1256:39775:11271,LH00166:238:23LG7FLT4:5:1284:21104:19398,LH00166:238:23LG7FLT4:5:1284:21112:19412,LH00166:238:23LG7FLT4:5:1311:43934:17492,LH00166:238:23LG7FLT4:5:1341:35601:20575,LH00166:238:23LG7FLT4:5:1343:21338:17114,LH00166:238:23LG7FLT4:5:1346:1785:22173,LH00166:238:23LG7FLT4:5:1346:1801:22173,LH00166:238:23LG7FLT4:5:1359:16290:2597,LH00166:238:23LG7FLT4:5:1361:11517:9828,LH00166:238:23LG7FLT4:5:1378:8346:16161,LH00166:238:23LG7FLT4:5:1394:2626:14662,LH00166:238:23LG7FLT4:5:1404:15125:2457,LH00166:238:23LG7FLT4:5:1449:18345:11817,LH00166:238:23LG7FLT4:5:1461:2739:13709,LH00166:238:23LG7FLT4:5:1480:32600:26390,LH00166:238:23LG7FLT4:5:2144:19647:9393,LH00166:238:23LG7FLT4:5:2151:12383:15447,LH00166:238:23LG7FLT4:5:2167:2626:22060,LH00166:238:23LG7FLT4:5:2177:47226:20925,LH00166:238:23LG7FLT4:5:2223:15400:14592,LH00166:238:23LG7FLT4:5:2232:33530:1378,LH00166:238:23LG7FLT4:5:2236:4584:19594,LH00166:238:23LG7FLT4:5:2279:44265:28912,LH00166:238:23LG7FLT4:5:2286:50244:27637,LH00166:238:23LG7FLT4:5:2291:29056:12826,LH00166:238:23LG7FLT4:5:2298:20359:9421,LH00166:238:23LG7FLT4:5:2314:45374:2163,LH00166:238:23LG7FLT4:5:2327:30941:4349,LH00166:238:23LG7FLT4:5:2334:32697:6269,LH00166:238:23LG7FLT4:5:2354:43990:18263,LH00166:238:23LG7FLT4:5:2376:19356:4881,LH00166:238:23LG7FLT4:5:2383:5838:1308,LH00166:238:23LG7FLT4:5:2432:28749:8679,LH00166:238:23LG7FLT4:5:2441:50082:23378,LH00166:238:23LG7FLT4:5:2462:48221:26152,LH00166:238:23LG7FLT4:5:2487:11218:10626,LH00166:238:23LG7FLT4:5:2488:47655:6199,LH00166:238:23LG7FLT4:6:1119:11323:11313,LH00166:238:23LG7FLT4:6:1163:15416:6773,LH00166:238:23LG7FLT4:6:1164:37300:28198,LH00166:238:23LG7FLT4:6:1171:14179:19762,LH00166:238:23LG7FLT4:6:1196:5644:18375,LH00166:238:23LG7FLT4:6:1203:30666:15895,LH00166:238:23LG7FLT4:6:1229:22956:16357,LH00166:238:23LG7FLT4:6:1252:52177:23700,LH00166:238:23LG7FLT4:6:1252:52185:23686,LH00166:238:23LG7FLT4:6:1256:49702:14480,LH00166:238:23LG7FLT4:6:1256:49718:14480,LH00166:238:23LG7FLT4:6:1269:20772:8903,LH00166:238:23LG7FLT4:6:1271:43214:7866,LH00166:238:23LG7FLT4:6:1272:19672:14228,LH00166:238:23LG7FLT4:6:1272:19688:14228,LH00166:238:23LG7FLT4:6:1273:9972:9674,LH00166:238:23LG7FLT4:6:1283:16549:14620,LH00166:238:23LG7FLT4:6:1286:31645:5316,LH00166:238:23LG7FLT4:6:1319:21905:10220,LH00166:238:23LG7FLT4:6:1324:17520:24821,LH00166:238:23LG7FLT4:6:1337:31200:19734,LH00166:238:23LG7FLT4:6:1358:15222:12322,LH00166:238:23LG7FLT4:6:1367:32268:28955,LH00166:238:23LG7FLT4:6:1385:46353:20113,LH00166:238:23LG7FLT4:6:1438:37089:1546,LH00166:238:23LG7FLT4:6:1443:17593:11131,LH00166:238:23LG7FLT4:6:1455:23822:26404,LH00166:238:23LG7FLT4:6:1456:18118:19412,LH00166:238:23LG7FLT4:6:1460:26661:4055,LH00166:238:23LG7FLT4:6:1464:11922:23756,LH00166:238:23LG7FLT4:6:1476:13960:13639,LH00166:238:23LG7FLT4:6:1480:16023:22060,LH00166:238:23LG7FLT4:6:2119:2869:9590,LH00166:238:23LG7FLT4:6:2125:31524:18529,LH00166:238:23LG7FLT4:6:2135:15611:29053,LH00166:238:23LG7FLT4:6:2162:15279:15166,LH00166:238:23LG7FLT4:6:2163:22382:28590,LH00166:238:23LG7FLT4:6:2172:2610:16736,LH00166:238:23LG7FLT4:6:2239:30747:18361,LH00166:238:23LG7FLT4:6:2248:42655:26376,LH00166:238:23LG7FLT4:6:2249:33797:21010,LH00166:238:23LG7FLT4:6:2255:5199:26797,LH00166:238:23LG7FLT4:6:2295:45722:15965,LH00166:238:23LG7FLT4:6:2310:26443:22032,LH00166:238:23LG7FLT4:6:2310:26451:22018,LH00166:238:23LG7FLT4:6:2317:19194:5246,LH00166:238:23LG7FLT4:6:2349:13014:7263,LH00166:238:23LG7FLT4:6:2365:6550:4615,LH00166:238:23LG7FLT4:6:2392:10716:28366,LH00166:238:23LG7FLT4:6:2472:40123:25718,LH00166:238:23LG7FLT4:7:1102:20950:13135,LH00166:238:23LG7FLT4:7:1152:47598:13723,LH00166:238:23LG7FLT4:7:1171:5636:6283,LH00166:238:23LG7FLT4:7:1222:5765:10430,LH00166:238:23LG7FLT4:7:1261:24453:24274,LH00166:238:23LG7FLT4:7:1261:24461:24288,LH00166:238:23LG7FLT4:7:1261:24469:24274,LH00166:238:23LG7FLT4:7:1270:11040:23322,LH00166:238:23LG7FLT4:7:1270:51838:19636,LH00166:238:23LG7FLT4:7:1306:5490:18473,LH00166:238:23LG7FLT4:7:1311:43060:9057,LH00166:238:23LG7FLT4:7:1322:16767:18978,LH00166:238:23LG7FLT4:7:1337:24186:2261,LH00166:238:23LG7FLT4:7:1356:6623:20968,LH00166:238:23LG7FLT4:7:1380:37292:17731,LH00166:238:23LG7FLT4:7:1382:45778:26544,LH00166:238:23LG7FLT4:7:1392:43359:18627,LH00166:238:23LG7FLT4:7:1419:1655:28310,LH00166:238:23LG7FLT4:7:1427:7051:13051,LH00166:238:23LG7FLT4:7:1430:40309:24050,LH00166:238:23LG7FLT4:7:1433:40779:19847,LH00166:238:23LG7FLT4:7:1456:22034:21962,LH00166:238:23LG7FLT4:7:1461:5466:23672,LH00166:23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:5:2170:14907:20239,LH00166:238:23LG7FLT4:5:2268:51279:29179,LH00166:238:23LG7FLT4:6:2311:4131:12504 |
| ELP1 | ELP1 | -/- | -/- | chr9:108870486 | chr9:108870547 | CDS | CDS | duplication/ITD | 5 | 5 | 0 | 393 | 386 | medium | out-of-frame | . | IKI3_family(100%)| | . | . | ENSG00000070061.16 | ENSG00000070061.16 | ENST00000675052.1 | ENST00000675052.1 | upstream | downstream | duplicates(221) | CTCCCCTACCTGTTTCATCTtTACCACCCCTGAGACAGCAAGACCAACCCCTCCACTTCCTCCTCTACTTCAGCCTACTCAACGTGGAGATGACAAAGATGAAGAC|CAACCCCTCCACTTCCTCCTCTACTTCAGCCTACTCAACGTGGAGATGACAAAGATGAAGAC | sptcfifttpetARPTPPLPPLLQPTQRGDDKDED|qplhfllyfsllnvemtkmk | LH00166:238:23LG7FLT4:5:1116:42453:5820,LH00166:238:23LG7FLT4:5:1136:26767:15951,LH00166:238:23LG7FLT4:5:1196:9891:2527,LH00166:238:23LG7FLT4:5:1209:48585:21318,LH00166:238:23LG7FLT4:5:1239:38020:23167,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1333:12464:15531,LH00166:238:23LG7FLT4:5:1343:43384:17128,LH00166:238:23LG7FLT4:5:1428:26629:10304,LH00166:238:23LG7FLT4:5:1483:30933:23167,LH00166:238:23LG7FLT4:5:1493:11485:28969,LH00166:238:23LG7FLT4:5:1498:3718:8398,LH00166:238:23LG7FLT4:5:2123:6509:23490,LH00166:238:23LG7FLT4:5:2149:38214:15545,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2159:27737:19762,LH00166:238:23LG7FLT4:5:2239:11104:8413,LH00166:238:23LG7FLT4:5:2245:30318:1140,LH00166:238:23LG7FLT4:5:2274:17042:15279,LH00166:238:23LG7FLT4:5:2291:9017:6535,LH00166:238:23LG7FLT4:5:2308:38974:27904,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2408:44055:3046,LH00166:238:23LG7FLT4:5:2411:13968:3004,LH00166:238:23LG7FLT4:5:2447:44694:19370,LH00166:238:23LG7FLT4:5:2451:30982:2934,LH00166:238:23LG7FLT4:6:1106:34112:18165,LH00166:238:23LG7FLT4:6:1107:33295:3354,LH00166:238:23LG7FLT4:6:1131:39719:21262,LH00166:238:23LG7FLT4:6:1140:30116:17717,LH00166:238:23LG7FLT4:6:1174:50300:10108,LH00166:238:23LG7FLT4:6:1241:12269:3873,LH00166:238:23LG7FLT4:6:1258:22196:25437,LH00166:238:23LG7FLT4:6:1265:26508:26741,LH00166:238:23LG7FLT4:6:1292:31402:4951,LH00166:238:23LG7FLT4:6:1349:18385:17436,LH00166:238:23LG7FLT4:6:1372:14171:13695,LH00166:238:23LG7FLT4:6:1397:8588:6325,LH00166:238:23LG7FLT4:6:1488:32235:5918,LH00166:238:23LG7FLT4:6:1496:12908:24457,LH00166:238:23LG7FLT4:6:1496:39921:7488,LH00166:238:23LG7FLT4:6:1496:39929:7502,LH00166:238:23LG7FLT4:6:2109:47129:17282,LH00166:238:23LG7FLT4:6:2111:12795:15769,LH00166:238:23LG7FLT4:6:2210:33764:18123,LH00166:238:23LG7FLT4:6:2239:43667:4335,LH00166:238:23LG7FLT4:6:2242:47760:1140,LH00166:238:23LG7FLT4:6:2243:48885:20323,LH00166:238:23LG7FLT4:6:2249:29566:3676,LH00166:238:23LG7FLT4:6:2260:21435:20113,LH00166:238:23LG7FLT4:6:2277:35415:1420,LH00166:238:23LG7FLT4:6:2388:45422:6451,LH00166:238:23LG7FLT4:6:2398:30334:16582,LH00166:238:23LG7FLT4:6:2439:14761:22032,LH00166:238:23LG7FLT4:6:2440:39330:23980,LH00166:238:23LG7FLT4:6:2466:48682:13667,LH00166:238:23LG7FLT4:6:2466:7003:1336,LH00166:238:23LG7FLT4:6:2479:23409:10809,LH00166:238:23LG7FLT4:7:1157:12642:14942,LH00166:238:23LG7FLT4:7:1158:48674:20939,LH00166:238:23LG7FLT4:7:1159:51927:2864,LH00166:238:23LG7FLT4:7:1235:44338:8076,LH00166:238:23LG7FLT4:7:1259:14899:22046,LH00166:238:23LG7FLT4:7:1263:10983:3802,LH00166:238:23LG7FLT4:7:1314:17811:28296,LH00166:238:23LG7FLT4:7:1321:2715:27539,LH00166:238:23LG7FLT4:7:1416:33263:18936,LH00166:238:23LG7FLT4:7:1421:18847:9351,LH00166:238:23LG7FLT4:7:1451:49742:1687,LH00166:238:23LG7FLT4:5:1116:42453:5820,LH00166:238:23LG7FLT4:5:1136:26767:15951,LH00166:238:23LG7FLT4:5:1196:9891:2527,LH00166:238:23LG7FLT4:5:1209:48585:21318,LH00166:238:23LG7FLT4:5:1239:38020:23167,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1244:6606:9113,LH00166:238:23LG7FLT4:5:1333:12464:15531,LH00166:238:23LG7FLT4:5:1343:43384:17128,LH00166:238:23LG7FLT4:5:1428:26629:10304,LH00166:238:23LG7FLT4:5:1483:30933:23167,LH00166:238:23LG7FLT4:5:1493:11485:28969,LH00166:238:23LG7FLT4:5:1498:3718:8398,LH00166:238:23LG7FLT4:5:2123:6509:23490,LH00166:238:23LG7FLT4:5:2149:38214:15545,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2154:47623:3004,LH00166:238:23LG7FLT4:5:2159:27737:19762,LH00166:238:23LG7FLT4:5:2239:11104:8413,LH00166:238:23LG7FLT4:5:2245:30318:1140,LH00166:238:23LG7FLT4:5:2274:17042:15279,LH00166:238:23LG7FLT4:5:2291:9017:6535,LH00166:238:23LG7FLT4:5:2308:38974:27904,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8702:15909,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2347:8710:15895,LH00166:238:23LG7FLT4:5:2408:44055:3046,LH00166:238:23LG7FLT4:5:2411:13968:3004,LH00166:238:23LG7FLT4:5:2447:44694:19370,LH00166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|
| TLK2P1 | AC110079.1 | -/- | +/+ | chr17:34039043 | chr4:118595912 | exon | exon/splice-site | translocation | 3 | 0 | 0 | 488 | 452 | medium | . | . | . | . | . | ENSG00000226049.3 | ENSG00000260404.3 | ENST00000530992.1 | ENST00000567913.2 | upstream | upstream | duplicates(24),mismatches(4) | TATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACtCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCtAGTG | . | LH00166:238:23LG7FLT4:5:1204:8192:24274,LH00166:238:23LG7FLT4:5:1251:45527:16021,LH00166:238:23LG7FLT4:5:2426:27697:6969,LH00166:238:23LG7FLT4:6:1360:23199:2822,LH00166:238:23LG7FLT4:6:2470:29517:3116,LH00166:238:23LG7FLT4:5:1292:3524:11257,LH00166:238:23LG7FLT4:5:1301:50495:26558,LH00166:238:23LG7FLT4:5:1398:50762:2892,LH00166:238:23LG7FLT4:5:2119:10320:5176,LH00166:238:23LG7FLT4:5:2153:2699:11902,LH00166:238:23LG7FLT4:5:2169:39508:3102,LH00166:238:23LG7FLT4:5:2252:3387:6283,LH00166:238:23LG7FLT4:5:2252:3395:6297,LH00166:238:23LG7FLT4:5:2261:3023:19188,LH00166:238:23LG7FLT4:5:2274:50114:12756,LH00166:238:23LG7FLT4:5:2384:9066:29683,LH00166:238:23LG7FLT4:5:2385:6663:12826,LH00166:238:23LG7FLT4:5:2388:3403:25900,LH00166:238:23LG7FLT4:5:2410:39233:2597,LH00166:238:23LG7FLT4:5:2464:44977:15545,LH00166:238:23LG7FLT4:6:1178:20578:26755,LH00166:238:23LG7FLT4:6:1178:20586:26741,LH00166:238:23LG7FLT4:6:1178:20586:26769,LH00166:238:23LG7FLT4:6:1276:28004:4671,LH00166:238:23LG7FLT4:6:1303:3686:4811,LH00166:238:23LG7FLT4:6:1340:21136:5302,LH00166:238:23LG7FLT4:6:2101:3314:28436,LH00166:238:23LG7FLT4:7:1258:18458:22467,LH00166:238:23LG7FLT4:7:1263:43675:27357,LH00166:238:23LG7FLT4:7:1311:21516:21290,LH00166:238:23LG7FLT4:7:1326:23725:11187 |
| ARHGEF35 | ARHGEF35 | -/- | -/- | chr7:144188356 | chr7:144188377 | CDS | CDS | duplication/ITD | 0 | 51 | 0 | 896 | 1176 | low | out-of-frame | . | RhoGEF_5/35_N-terminal_disordered_region(1%)|RhoGEF_5/35_N-terminal_disordered_region(99%) | . | . | ENSG00000213214.5 | ENSG00000213214.5 | ENST00000378115.3 | ENST00000378115.3 | upstream | downstream | duplicates(250),low_entropy(1) | GGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGA | MEAEEAQrG|g* | 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|
| YTHDC1 | YTHDC1 | -/- | -/- | chr4:68314129 | chr4:68314194 | CDS | CDS | duplication/ITD | 24 | 22 | 0 | 3347 | 3740 | low | in-frame | . | YT521-B-like_domain(100%)| | . | . | ENSG00000083896.13 | ENSG00000083896.13 | ENST00000344157.9 | ENST00000344157.9 | upstream | downstream | duplicates(115),low_entropy(3) | GTGAAAGAGACCGGGAACGAGAGCGAGACCGCCCTAGAGATAACAGACGAGACAGAGAGCGAGATAGAGGACGTGATAGAGAAAGAGAAAGAGAGCGATTATGTGATCGAGACAGAGAC|AGAGAGCGAGATAGAGGACGTGATAGAGAAAGAGAAAGAGAGCGATTATGTGATCGAGACAGAGACa | ERDRERERDRPRDNRRDRERDRGRDRERERERLCDRDRD|RERDRGRDRERERERLCDRDRD | 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G7FLT4:6:1381:41644:9407,LH00166:238:23LG7FLT4:6:1385:29881:13639,LH00166:238:23LG7FLT4:6:1420:28166:23672,LH00166:238:23LG7FLT4:6:1458:34703:13247,LH00166:238:23LG7FLT4:6:1477:30836:25578,LH00166:238:23LG7FLT4:6:1493:21832:21640,LH00166:238:23LG7FLT4:6:2147:35463:20281,LH00166:238:23LG7FLT4:6:2154:6178:16414,LH00166:238:23LG7FLT4:6:2221:33295:5148,LH00166:238:23LG7FLT4:6:2221:33311:5148,LH00166:238:23LG7FLT4:6:2238:16072:5890,LH00166:238:23LG7FLT4:6:2242:45171:24008,LH00166:238:23LG7FLT4:6:2242:45188:24008,LH00166:238:23LG7FLT4:6:2244:40851:22999,LH00166:238:23LG7FLT4:6:2250:15594:17591,LH00166:238:23LG7FLT4:6:2282:19793:20211,LH00166:238:23LG7FLT4:6:2282:19809:20211,LH00166:238:23LG7FLT4:6:2296:18054:23868,LH00166:238:23LG7FLT4:6:2376:43537:11369,LH00166:238:23LG7FLT4:6:2381:13847:18627,LH00166:238:23LG7FLT4:6:2394:44799:12658,LH00166:238:23LG7FLT4:6:2408:25124:23784,LH00166:238:23LG7FLT4:6:2469:44597:26096,LH00166:238:23LG7FLT4:7:1109:43100:7978,LH00166:238:23LG7FLT4:7:1114:12099:14732,LH00166:238:23LG7FLT4:7:1114:12108:14718,LH00166:238:23LG7FLT4:7:1124:21508:3340,LH00166:238:23LG7FLT4:7:1146:16403:5064,LH00166:238:23LG7FLT4:7:1231:5296:4685,LH00166:238:23LG7FLT4:7:1240:50381:25718,LH00166:238:23LG7FLT4:7:1240:50389:25704,LH00166:238:23LG7FLT4:7:1291:14171:8342,LH00166:238:23LG7FLT4:7:1306:7836:29403,LH00166:238:23LG7FLT4:7:1350:4220:14480,LH00166:238:23LG7FLT4:7:1383:13362:3522,LH00166:238:23LG7FLT4:7:1408:29275:8833,LH00166:238:23LG7FLT4:7:1413:32802:22929,LH00166:238:23LG7FLT4:7:1415:7885:8973,LH00166:238:23LG7FLT4:7:1431:5741:8118,LH00166:238:23LG7FLT4:7:1476:5660:5568,LH00166:238:23LG7FLT4:7:1429:39468:8469 |
| HDGFL3 | FP671120.4 | -/. | +/. | chr15:83207713 | chr21:8217359 | 5'UTR | intron | translocation | 0 | 21 | 0 | 8326 | 65535 | low | . | . | . | . | . | ENSG00000166503.9 | ENSG00000278996.1 | . | . | downstream | downstream | duplicates(407),low_entropy(6),mismappers(15),mismatches(78),multimappers(40) | . | . | 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|
| TGFBR3 | TGFBR3 | -/- | -/- | chr1:91708663 | chr1:91708711 | CDS/splice-site | CDS | duplication/ITD | 11 | 10 | 0 | 1677 | 1677 | low | stop-codon | . | Zona_pellucida-like_domain(100%)| | . | . | ENSG00000069702.11 | ENSG00000069702.11 | ENST00000370399.6 | ENST00000370399.6 | upstream | downstream | duplicates(94) | GACGCCTCGATAATCTGGGCCATGATGCAGAATAAGAAGACGTTCACcAAGCCCCTTGCTGTGATCCACCATGAtGCAGAATaagAAG|ACGTTCACcAAGCCCCTTGCTGTGATCCACCATGAtGCAGAATaagAAG | . | LH00166:238:23LG7FLT4:5:1105:34347:3186,LH00166:238:23LG7FLT4:5:1107:36369:21850,LH00166:238:23LG7FLT4:5:1159:25618:12784,LH00166:238:23LG7FLT4:5:1168:45924:8889,LH00166:238:23LG7FLT4:5:1168:45940:8889,LH00166:238:23LG7FLT4:5:1172:42227:26222,LH00166:238:23LG7FLT4:5:1241:10659:11257,LH00166:238:23LG7FLT4:5:1329:47849:24358,LH00166:238:23LG7FLT4:5:2114:1728:1757,LH00166:238:23LG7FLT4:5:2236:18571:2233,LH00166:238:23LG7FLT4:5:2240:49791:14550,LH00166:238:23LG7FLT4:5:2245:50567:16343,LH00166:238:23LG7FLT4:5:2255:2569:5820,LH00166:238:23LG7FLT4:5:2266:42380:27385,LH00166:238:23LG7FLT4:5:2311:49548:28702,LH00166:238:23LG7FLT4:5:2358:16897:9730,LH00166:238:23LG7FLT4:5:2358:16897:9730,LH00166:238:23LG7FLT4:5:2370:44929:16862,LH00166:238:23LG7FLT4:5:2389:6817:18025,LH00166:238:23LG7FLT4:5:2394:23943:15601,LH00166:238:23LG7FLT4:5:2451:23296:5260,LH00166:238:23LG7FLT4:5:2477:40156:12322,LH00166:238:23LG7FLT4:6:1103:4543:28100,LH00166:238:23LG7FLT4:6:1130:45414:8286,LH00166:238:23LG7FLT4:6:1152:36572:7600,LH00166:238:23LG7FLT4:6:1193:42728:26474,LH00166:238:23LG7FLT4:6:1193:42744:26474,LH00166:238:23LG7FLT4:6:1193:42752:26488,LH00166:238:23LG7FLT4:6:1220:47396:2107,LH00166:238:23LG7FLT4:6:1224:14834:14648,LH00166:238:23LG7FLT4:6:1325:44435:6675,LH00166:238:23LG7FLT4:6:1443:25286:9519,LH00166:238:23LG7FLT4:6:1453:40293:10206,LH00166:238:23LG7FLT4:6:2150:7901:20071,LH00166:238:23LG7FLT4:6:2184:21363:11719,LH00166:238:23LG7FLT4:6:2190:37001:10528,LH00166:238:23LG7FLT4:6:2222:35439:13541,LH00166:238:23LG7FLT4:6:2222:4535:9281,LH00166:238:23LG7FLT4:6:2284:33724:29683,LH00166:238:23LG7FLT4:6:2286:18005:24765,LH00166:238:23LG7FLT4:6:2301:37478:16007,LH00166:238:23LG7FLT4:6:2325:18960:11537,LH00166:238:23LG7FLT4:6:2361:30909:8749,LH00166:238:23LG7FLT4:6:2378:29177:5750,LH00166:238:23LG7FLT4:6:2387:13078:11215,LH00166:238:23LG7FLT4:6:2407:33344:6661,LH00166:238:23LG7FLT4:6:2407:46037:9477,LH00166:238:23LG7FLT4:6:2407:46037:9477,LH00166:238:23LG7FLT4:6:2439:36612:6353,LH00166:238:23LG7FLT4:6:2456:11954:9884,LH00166:238:23LG7FLT4:6:2479:29436:12784,LH00166:238:23LG7FLT4:6:2479:29453:12784,LH00166:238:23LG7FLT4:6:2481:17552:2485,LH00166:238:23LG7FLT4:7:1146:7739:4377,LH00166:238:23LG7FLT4:7:1159:6469:28576,LH00166:238:23LG7FLT4:7:1163:34493:10192,LH00166:238:23LG7FLT4:7:1190:47631:9912,LH00166:238:23LG7FLT4:7:1364:19308:1631,LH00166:238:23LG7FLT4:7:1394:44573:9071,LH00166:238:23LG7FLT4:7:1435:34048:18333,LH00166:238:23LG7FLT4:5:1105:34347:3186,LH00166:238:23LG7FLT4:5:1107:36369:21850,LH00166:238:23LG7FLT4:5:1159:25618:12784,LH00166:238:23LG7FLT4:5:1168:45924:8889,LH00166:238:23LG7FLT4:5:1168:45940:8889,LH00166:238:23LG7FLT4:5:1172:42227:26222,LH00166:238:23LG7FLT4:5:1241:10659:11257,LH00166:238:23LG7FLT4:5:1329:47849:24358,LH00166:238:23LG7FLT4:5:2114:1728:1757,LH00166:238:23LG7FLT4:5:2236:18571:2233,LH00166:238:23LG7FLT4:5:2240:49791:14550,LH00166:238:23LG7FLT4:5:2245:50567:16343,LH00166:238:23LG7FLT4:5:2255:2569:5820,LH00166:238:23LG7FLT4:5:2266:42380:27385,LH00166:238:23LG7FLT4:5:2311:49548:28702,LH00166:238:23LG7FLT4:5:2370:44929:16862,LH00166:238:23LG7FLT4:5:2389:6817:18025,LH00166:238:23LG7FLT4:5:2394:23943:15601,LH00166:238:23LG7FLT4:5:2451:23296:5260,LH00166:238:23LG7FLT4:5:2477:40156:12322,LH00166:238:23LG7FLT4:6:1103:4543:28100,LH00166:238:23LG7FLT4:6:1130:45414:8286,LH00166:238:23LG7FLT4:6:1152:36572:7600,LH00166:238:23LG7FLT4:6:1193:42728:26474,LH00166:238:23LG7FLT4:6:1193:42744:26474,LH00166:238:23LG7FLT4:6:1193:42752:26488,LH00166:238:23LG7FLT4:6:1220:47396:2107,LH00166:238:23LG7FLT4:6:1224:14834:14648,LH00166:238:23LG7FLT4:6:1325:44435:6675,LH00166:238:23LG7FLT4:6:1443:25286:9519,LH00166:238:23LG7FLT4:6:1453:40293:10206,LH00166:238:23LG7FLT4:6:2150:7901:20071,LH00166:238:23LG7FLT4:6:2184:21363:11719,LH00166:238:23LG7FLT4:6:2190:37001:10528,LH00166:238:23LG7FLT4:6:2222:35439:13541,LH00166:238:23LG7FLT4:6:2222:4535:9281,LH00166:238:23LG7FLT4:6:2284:33724:29683,LH00166:238:23LG7FLT4:6:2286:18005:24765,LH00166:238:23LG7FLT4:6:2301:37478:16007,LH00166:238:23LG7FLT4:6:2325:18960:11537,LH00166:238:23LG7FLT4:6:2361:30909:8749,LH00166:238:23LG7FLT4:6:2378:29177:5750,LH00166:238:23LG7FLT4:6:2387:13078:11215,LH00166:238:23LG7FLT4:6:2407:33344:6661,LH00166:238:23LG7FLT4:6:2439:36612:6353,LH00166:238:23LG7FLT4:6:2456:11954:9884,LH00166:238:23LG7FLT4:6:2479:29436:12784,LH00166:238:23LG7FLT4:6:2479:29453:12784,LH00166:238:23LG7FLT4:6:2481:17552:2485,LH00166:238:23LG7FLT4:7:1146:7739:4377,LH00166:238:23LG7FLT4:7:1159:6469:28576,LH00166:238:23LG7FLT4:7:1163:34493:10192,LH00166:238:23LG7FLT4:7:1190:47631:9912,LH00166:238:23LG7FLT4:7:1364:19308:1631,LH00166:238:23LG7FLT4:7:1394:44573:9071 |
| MUC1 | MUC1 | -/- | -/- | chr1:155188650 | chr1:155188726 | CDS | CDS | duplication/ITD | 0 | 17 | 0 | 1018 | 785 | low | out-of-frame | . | SEA_domain(1%)|SEA_domain(98%) | . | . | ENSG00000185499.16 | ENSG00000185499.16 | ENST00000611571.4 | ENST00000611571.4 | upstream | downstream | duplicates(1),homopolymer(1) | CTCGGCCCCGGACACCAGGCGGGCCCCGGGCTCCACCCCGGCCCCGGGCTCCACCGCCCCCC|a|GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCGGGCCCCGGGCTCCACCCCGGCCCCGGGCTCCACCGCCCCCCa | SAPDTRRAPGSTPAPGSTAP|q|ptvsprprtpggprapprprapppp | LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:6:1483:13515:23574,LH00166:238:23LG7FLT4:5:1329:21557:18193,LH00166:238:23LG7FLT4:5:2115:20343:24723 |
| SSR1 | SSR1 | -/- | -/- | chr6:7309913 | chr6:7309981 | intron | CDS | duplication/ITD | 7 | 8 | 0 | 1404 | 1552 | low | in-frame | . | Translocon-associated_protein_(TRAP)__alpha_subunit(20%)|Translocon-associated_protein_(TRAP)__alpha_subunit(87%) | . | . | ENSG00000124783.14 | ENSG00000124783.14 | ENST00000474597.5 | ENST00000474597.5 | upstream | downstream | duplicates(23) | ACAAGATCTTACAGAGGATGAAGAAACAGTAGAAGATTCCATAATTGAGGATGAAGATGATGAAGCCGAGGTAGAAGAAGATGAACCCACAGATTTGGT|ag|AAGATTCCATAATTGAGGATGAAGATGATGAAGCCGAGGTAGAAGAAGATGAACCCACAGATTTGGTag | QDLTEDEETVEDSIIEDEDDEAEVEEDEPTDLv|eDSIIEDEDDEAEVEEDEPTDLv | LH00166:238:23LG7FLT4:5:1147:10069:9253,LH00166:238:23LG7FLT4:5:1320:23086:18627,LH00166:238:23LG7FLT4:5:1451:21929:28450,LH00166:238:23LG7FLT4:5:2402:51174:25606,LH00166:238:23LG7FLT4:5:2468:47606:7796,LH00166:238:23LG7FLT4:5:2493:42291:23756,LH00166:238:23LG7FLT4:5:2497:32656:3004,LH00166:238:23LG7FLT4:6:1149:14826:28114,LH00166:238:23LG7FLT4:6:1149:14834:28100,LH00166:238:23LG7FLT4:6:1157:26945:18109,LH00166:238:23LG7FLT4:6:1158:51385:13051,LH00166:238:23LG7FLT4:6:1302:15861:21136,LH00166:238:23LG7FLT4:6:1303:10611:4251,LH00166:238:23LG7FLT4:7:1142:19631:5218,LH00166:238:23LG7FLT4:7:1152:33142:1546,LH00166:238:23LG7FLT4:7:1279:10085:14970,LH00166:238:23LG7FLT4:7:1405:22406:8707,LH00166:238:23LG7FLT4:7:1454:44330:25998,LH00166:238:23LG7FLT4:5:1147:10069:9253,LH00166:238:23LG7FLT4:5:1320:23086:18627,LH00166:238:23LG7FLT4:5:1451:21929:28450,LH00166:238:23LG7FLT4:5:2402:51174:25606,LH00166:238:23LG7FLT4:5:2468:47606:7796,LH00166:238:23LG7FLT4:5:2493:42291:23756,LH00166:238:23LG7FLT4:5:2497:32656:3004,LH00166:238:23LG7FLT4:6:1149:14826:28114,LH00166:238:23LG7FLT4:6:1149:14834:28100,LH00166:238:23LG7FLT4:6:1157:26945:18109,LH00166:238:23LG7FLT4:6:1158:51385:13051,LH00166:238:23LG7FLT4:6:1302:15861:21136,LH00166:238:23LG7FLT4:6:1303:10611:4251,LH00166:238:23LG7FLT4:7:1142:19631:5218,LH00166:238:23LG7FLT4:7:1152:33142:1546,LH00166:238:23LG7FLT4:7:1279:10085:14970,LH00166:238:23LG7FLT4:7:1405:22406:8707,LH00166:238:23LG7FLT4:7:1454:44330:25998,LH00166:238:23LG7FLT4:7:1465:38149:9996,LH00166:238:23LG7FLT4:7:1465:38149:9996 |
| TTN | TTN | -/- | -/- | chr2:178653041 | chr2:178653124 | CDS/splice-site | CDS/splice-site | duplication/non-canonical_splicing | 4 | 6 | 0 | 643 | 1002 | low | . | . | Immunoglobulin_I-set_domain(55%),PPAK_motif(88%),Titin_Z(100%),Tri-helix_bundle_domain(100%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(44%),PPAK_motif(11%),Protein_kinase_domain(100%) | . | . | ENSG00000155657.28 | ENSG00000155657.28 | ENST00000589042.5 | ENST00000589042.5 | upstream | downstream | duplicates(7) | TGTTAAAG___TGCCAGAGGCTCCCAAAGAAGTTGTTCCTGAAAAGAAAGTG?CAGTGACTCCTCCTAAAAAACCTGAAGTCCCACCTGTT?AAG|...TGCCAGAGGCTCCCAAAGAAGTTGTTCCTGAAAAGAAAGTG?CAGTGACTCCTCCTAAAAA?CCTGAAGTCCCACCTGTTAAAG | . | LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:7:1274:49508:17310,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:5:2431:12010:23266,LH00166:238:23LG7FLT4:6:1252:48966:19847,LH00166:238:23LG7FLT4:7:1274:49508:17310,LH00166:238:23LG7FLT4:5:1210:35803:10697,LH00166:238:23LG7FLT4:5:1210:35803:10697,LH00166:238:23LG7FLT4:6:1289:28158:11215,LH00166:238:23LG7FLT4:6:1289:28158:11215,LH00166:238:23LG7FLT4:6:1289:28158:11215,LH00166:238:23LG7FLT4:6:1289:28158:11215 |
| NF1 | NF1 | +/+ | +/+ | chr17:31226511 | chr17:31226448 | CDS | CDS | duplication/ITD | 5 | 5 | 0 | 362 | 511 | low | out-of-frame | . | |Divergent_CRAL/TRIO_domain(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%) | . | . | ENSG00000196712.18 | ENSG00000196712.18 | ENST00000356175.7 | ENST00000356175.7 | downstream | upstream | duplicates(32) | GtTtCtGtGGAACCCCCCC?ATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACAT|GtTtCtGtGGAACCCCCCCaATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCC | fcGTPPICRQAQTKLEVALYm|flwnppnlptspdqtrsg | LH00166:238:23LG7FLT4:5:1135:43311:21542,LH00166:238:23LG7FLT4:5:1170:2319:27665,LH00166:238:23LG7FLT4:5:1196:33773:7656,LH00166:238:23LG7FLT4:5:1371:20634:7964,LH00166:238:23LG7FLT4:5:1481:2594:19510,LH00166:238:23LG7FLT4:5:2248:24186:3018,LH00166:238:23LG7FLT4:5:2256:24453:15559,LH00166:238:23LG7FLT4:5:2296:40957:4405,LH00166:238:23LG7FLT4:5:2351:42930:23826,LH00166:238:23LG7FLT4:5:2468:7302:9533,LH00166:238:23LG7FLT4:6:1198:47445:19398,LH00166:238:23LG7FLT4:6:1240:39614:5582,LH00166:238:23LG7FLT4:6:1307:17811:24737,LH00166:238:23LG7FLT4:6:2285:5021:20911,LH00166:238:23LG7FLT4:6:2372:19389:27806,LH00166:238:23LG7FLT4:6:2491:34719:19636,LH00166:238:23LG7FLT4:7:1124:16104:23742,LH00166:238:23LG7FLT4:7:1264:29752:25662,LH00166:238:23LG7FLT4:7:1307:22180:18151,LH00166:238:23LG7FLT4:7:1312:47396:2247,LH00166:238:23LG7FLT4:7:1354:33069:7221,LH00166:238:23LG7FLT4:5:1135:43311:21542,LH00166:238:23LG7FLT4:5:1170:2319:27665,LH00166:238:23LG7FLT4:5:1196:33773:7656,LH00166:238:23LG7FLT4:5:1371:20634:7964,LH00166:238:23LG7FLT4:5:1481:2594:19510,LH00166:238:23LG7FLT4:5:2248:24186:3018,LH00166:238:23LG7FLT4:5:2256:24453:15559,LH00166:238:23LG7FLT4:5:2296:40957:4405,LH00166:238:23LG7FLT4:5:2351:42930:23826,LH00166:238:23LG7FLT4:5:2468:7302:9533,LH00166:238:23LG7FLT4:6:1198:47445:19398,LH00166:238:23LG7FLT4:6:1240:39614:5582,LH00166:238:23LG7FLT4:6:1307:17811:24737,LH00166:238:23LG7FLT4:6:2285:5021:20911,LH00166:238:23LG7FLT4:6:2372:19389:27806,LH00166:238:23LG7FLT4:6:2491:34719:19636,LH00166:238:23LG7FLT4:7:1124:16104:23742,LH00166:238:23LG7FLT4:7:1264:29752:25662,LH00166:238:23LG7FLT4:7:1307:22180:18151,LH00166:238:23LG7FLT4:7:1312:47396:2247,LH00166:238:23LG7FLT4:7:1354:33069:7221 |
| TVP23C | CDRT4 | -/- | -/- | chr17:15503098 | chr17:15440285 | CDS | 5'UTR/splice-site | deletion/read-through | 2 | 5 | 0 | 499 | 99 | 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(59) | CAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAA | QSAGITGVSRCPGHPSRKFHQ|esepvmlrnq* | LH00166:238:23LG7FLT4:5:1270:8232:28688,LH00166:238:23LG7FLT4:5:1330:24793:2695,LH00166:238:23LG7FLT4:5:1331:20885:26334,LH00166:238:23LG7FLT4:5:1363:20740:20925,LH00166:238:23LG7FLT4:5:1393:20626:10668,LH00166:238:23LG7FLT4:5:1393:20634:10654,LH00166:238:23LG7FLT4:5:2137:42939:14116,LH00166:238:23LG7FLT4:5:2139:9567:9926,LH00166:238:23LG7FLT4:5:2149:37850:27609,LH00166:238:23LG7FLT4:5:2154:3427:21990,LH00166:238:23LG7FLT4:5:2192:9066:4153,LH00166:238:23LG7FLT4:5:2243:2812:15208,LH00166:238:23LG7FLT4:5:2337:27414:23378,LH00166:238:23LG7FLT4:5:2368:39039:14592,LH00166:238:23LG7FLT4:5:2369:1663:21738,LH00166:238:23LG7FLT4:5:2413:4463:11145,LH00166:238:23LG7FLT4:5:2426:1728:6409,LH00166:238:23LG7FLT4:5:2432:50050:1126,LH00166:238:23LG7FLT4:6:1127:43731:9211,LH00166:238:23LG7FLT4:6:1140:30480:26306,LH00166:238:23LG7FLT4:6:1253:23450:12252,LH00166:238:23LG7FLT4:6:1296:38756:2948,LH00166:238:23LG7FLT4:6:1333:30666:22957,LH00166:238:23LG7FLT4:6:1362:19979:21934,LH00166:238:23LG7FLT4:6:1392:48140:11019,LH00166:238:23LG7FLT4:6:2148:23879:24933,LH00166:238:23LG7FLT4:6:2180:6226:23504,LH00166:238:23LG7FLT4:6:2183:25076:16133,LH00166:238:23LG7FLT4:6:2195:39419:11411,LH00166:238:23LG7FLT4:6:2275:45867:7390,LH00166:238:23LG7FLT4:6:2283:51660:25774,LH00166:238:23LG7FLT4:6:2283:51668:25788,LH00166:238:23LG7FLT4:6:2309:46838:19076,LH00166:238:23LG7FLT4:6:2388:21791:15265,LH00166:238:23LG7FLT4:7:1105:1752:9477,LH00166:238:23LG7FLT4:7:1152:25076:29221,LH00166:238:23LG7FLT4:7:1169:20392:11860,LH00166:238:23LG7FLT4:7:1207:33926:19748,LH00166:238:23LG7FLT4:7:1245:11129:2373,LH00166:238:23LG7FLT4:7:1267:10206:7866,LH00166:238:23LG7FLT4:7:1339:48949:16988,LH00166:238:23LG7FLT4:7:1363:6347:28338,LH00166:238:23LG7FLT4:7:1398:38206:20295,LH00166:238:23LG7FLT4:7:1421:21799:15391,LH00166:238:23LG7FLT4:7:1437:2044:17773,LH00166:238:23LG7FLT4:7:1439:5207:23504,LH00166:238:23LG7FLT4:7:1439:5215:23490,LH00166:238:23LG7FLT4:5:1122:26629:1112,LH00166:238:23LG7FLT4:5:1406:7399:14214,LH00166:238:23LG7FLT4:5:2121:7642:5526,LH00166:238:23LG7FLT4:5:2197:15675:8567,LH00166:238:23LG7FLT4:5:2301:11250:19398,LH00166:238:23LG7FLT4:5:2385:11363:23882,LH00166:238:23LG7FLT4:5:2416:45592:6941,LH00166:238:23LG7FLT4:5:2459:36434:24036,LH00166:238:23LG7FLT4:6:1136:35989:8525,LH00166:238:23LG7FLT4:6:1139:8516:11047,LH00166:238:23LG7FLT4:6:1416:32980:27273,LH00166:238:23LG7FLT4:6:2202:22616:28296,LH00166:238:23LG7FLT4:6:2407:29728:12868,LH00166:238:23LG7FLT4:6:2452:47162:16049,LH00166:238:23LG7FLT4:6:2472:36183:1883,LH00166:238:23LG7FLT4:6:2489:4940:14774,LH00166:238:23LG7FLT4:7:1179:1728:19945,LH00166:238:23LG7FLT4:7:1207:27511:2527,LH00166:238:23LG7FLT4:7:1329:13281:6157 |
| TVP23C | CDRT4 | -/- | -/- | chr17:15545785 | chr17:15440285 | CDS/splice-site | 5'UTR/splice-site | deletion/read-through | 0 | 2 | 0 | 136 | 99 | low | out-of-frame | . | Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%) | . | . | ENSG00000175106.17 | ENSG00000239704.11 | ENST00000225576.7 | ENST00000619038.5 | upstream | downstream | duplicates(13) | CCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAAC | CSVLWVIFAFSALFSFTVKWL|esepvmlrnq* | LH00166:238:23LG7FLT4:5:1103:50697:5722,LH00166:238:23LG7FLT4:5:2170:40601:4965,LH00166:238:23LG7FLT4:5:2171:26888:24709,LH00166:238:23LG7FLT4:5:2370:48108:16035,LH00166:238:23LG7FLT4:5:2370:48116:16021,LH00166:238:23LG7FLT4:6:1157:11946:6591,LH00166:238:23LG7FLT4:6:1176:29380:20841,LH00166:238:23LG7FLT4:6:1176:29388:20827,LH00166:238:23LG7FLT4:6:1176:29396:20813,LH00166:238:23LG7FLT4:6:1262:20659:7530,LH00166:238:23LG7FLT4:6:1335:50438:27301,LH00166:238:23LG7FLT4:6:2183:27729:14116,LH00166:238:23LG7FLT4:7:1146:23118:1364,LH00166:238:23LG7FLT4:7:1212:8969:19538,LH00166:238:23LG7FLT4:7:1296:6914:28534 |
| TOMM5(10735),RAB1C(33349) | FRMPD1 | ./+ | +/+ | chr9:37603339 | chr9:37692638 | intergenic | 5'UTR/splice-site | deletion/read-through | 2 | 2 | 0 | 11 | 21 | low | . | . | |FERM_central_domain(100%),PDZ_domain(100%) | . | . | . | ENSG00000070601.10 | . | ENST00000377765.8 | downstream | upstream | duplicates(3) | CTTGGATTGGCTGGTCTCTACAGTCTCTTCCAGGATTGATGCTGGGATTTGGTGATCAGTGTGAAGACTGTGGACACTGGTGGAAGGAAGGAG|GTAAATGGAAGAGCTGGAGACCAGTTTATTCCAGACACGGAAAGCACATAGAATAGAACAAATGGTG | . | LH00166:238:23LG7FLT4:6:1225:46466:4363,LH00166:238:23LG7FLT4:6:2469:17876:29389,LH00166:238:23LG7FLT4:6:2469:17892:29389,LH00166:238:23LG7FLT4:5:1304:50923:14914,LH00166:238:23LG7FLT4:6:1249:33085:20001,LH00166:238:23LG7FLT4:6:1431:27786:11271,LH00166:238:23LG7FLT4:6:2367:3079:18894 |
| WDR36 | KRT18P45(9781),AC026410.1(116) | +/+ | ./- | chr5:111127946 | chr5:80299562 | 3'UTR | intergenic | inversion | 0 | 4 | 0 | 1 | 1614 | low | . | . | Anaphase-promoting_complex_subunit_4_WD40_domain(100%),Utp21_specific_WD40_associated_putative_domain_(100%),WD_domain__G-beta_repeat(100%)| | . | . | ENSG00000134987.12 | . | ENST00000506538.6 | . | downstream | downstream | duplicates(1),mismatches(2) | TTTGTTTTGTTTTGgTTTTTTTTTTTTTTTTTTGGCT|TGACTCAGGATTTAAAAACTGGAACGGTGAAGGTGACAGCAGTCGGTTGGAGCGAGCATCCCCCAAAGTTC | . | LH00166:238:23LG7FLT4:5:1168:22293:24681,LH00166:238:23LG7FLT4:5:2176:3395:2121,LH00166:238:23LG7FLT4:6:1469:3209:24022,LH00166:238:23LG7FLT4:6:2157:20044:9828,LH00166:238:23LG7FLT4:6:2305:39921:18333,LH00166:238:23LG7FLT4:7:1213:30795:13877,LH00166:238:23LG7FLT4:7:1445:39800:19272 |
| STX16 | NPEPL1 | +/+ | +/+ | chr20:58673711 | chr20:58691724 | CDS/splice-site | 5'UTR/splice-site | deletion/read-through | 2 | 1 | 0 | 1370 | 145 | low | out-of-frame | . | SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%) | . | . | ENSG00000124222.22 | ENSG00000215440.12 | ENST00000361830.7 | ENST00000525967.5 | downstream | upstream | duplicates(11),mismatches(2) | TTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|G?TGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAG | VEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|?gyeeetqnnrsglwnymevte | LH00166:238:23LG7FLT4:5:1476:7432:21444,LH00166:238:23LG7FLT4:5:2140:32098:5568,LH00166:238:23LG7FLT4:5:2180:1574:24807,LH00166:238:23LG7FLT4:5:2232:27179:14059,LH00166:238:23LG7FLT4:5:2303:45956:26460,LH00166:238:23LG7FLT4:5:2459:15869:26811,LH00166:238:23LG7FLT4:6:1229:4357:29151,LH00166:238:23LG7FLT4:6:1229:4374:29151,LH00166:238:23LG7FLT4:6:2279:28029:21780,LH00166:238:23LG7FLT4:6:2336:48076:14354,LH00166:238:23LG7FLT4:6:2381:16322:22046,LH00166:238:23LG7FLT4:6:2406:22997:12168,LH00166:238:23LG7FLT4:7:1178:28110:4713,LH00166:238:23LG7FLT4:7:1381:27454:25437,LH00166:238:23LG7FLT4:7:1411:42413:20491,LH00166:238:23LG7FLT4:7:1440:36855:6773 |
| TNXB | SIM1 | -/- | -/+ | chr6:32088931 | chr6:100457999 | CDS | intron | inversion/5'-5' | 3 | 0 | 0 | 5444 | 851 | low | out-of-frame | . | EGF-like_domain(100%),Fibronectin_type_III_domain(4%),Tenascin_EGF_domain(100%)| | . | . | ENSG00000168477.19 | ENSG00000112246.10 | ENST00000375244.7 | . | upstream | upstream | duplicates(7) | TGGAGCTTGGCTGGCTGCGTCCCCAGGCTGAGGTGGACCGATTTGTGGTGTCCTACGTCAGTGCCGG|TCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC | ELGWLRPQAEVDRFVVSYVSAg|lsfslslslslslslslsls | LH00166:238:23LG7FLT4:5:1235:6639:12504,LH00166:238:23LG7FLT4:5:1424:48100:4951,LH00166:238:23LG7FLT4:5:2115:30917:23027,LH00166:238:23LG7FLT4:5:2287:36394:11635,LH00166:238:23LG7FLT4:6:1305:43222:1070,LH00166:238:23LG7FLT4:6:2264:13475:18964,LH00166:238:23LG7FLT4:6:2318:8888:3929,LH00166:238:23LG7FLT4:6:2354:25674:4587,LH00166:238:23LG7FLT4:7:1353:45293:15391,LH00166:238:23LG7FLT4:7:1370:1485:26250 |
| AGAP3 | HOXD11 | +/+ | +/+ | chr7:151086814 | chr2:176107588 | CDS | CDS | translocation | 2 | 0 | 0 | 509 | 21 | low | in-frame | . | |Homeodomain(100%),Protein_of_unknown_function_(DUF3528)(57%) | . | . | ENSG00000133612.19 | ENSG00000128713.14 | ENST00000397238.7 | ENST00000249504.7 | downstream | upstream | duplicates(31),low_entropy(1),mismappers(1) | CGGGCCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC | MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG | LH00166:238:23LG7FLT4:5:1163:25440:27161,LH00166:238:23LG7FLT4:5:1355:31483:8847,LH00166:238:23LG7FLT4:5:2377:24323:13989,LH00166:238:23LG7FLT4:6:1241:25869:18459,LH00166:238:23LG7FLT4:7:1198:4082:13513,LH00166:238:23LG7FLT4:7:1251:18199:4055,LH00166:238:23LG7FLT4:5:1102:38481:24555,LH00166:238:23LG7FLT4:5:1173:16096:4027,LH00166:238:23LG7FLT4:5:2107:26184:2163,LH00166:238:23LG7FLT4:5:2349:21888:27287,LH00166:238:23LG7FLT4:5:2429:40722:26250,LH00166:238:23LG7FLT4:5:2469:45980:24541,LH00166:238:23LG7FLT4:5:2473:22196:20785,LH00166:238:23LG7FLT4:6:1115:42963:25087,LH00166:238:23LG7FLT4:6:1115:42971:25101,LH00166:238:23LG7FLT4:6:1135:49516:9533,LH00166:238:23LG7FLT4:6:1171:47704:8917,LH00166:238:23LG7FLT4:6:1225:33150:12910,LH00166:238:23LG7FLT4:6:1308:35577:2738,LH00166:238:23LG7FLT4:6:1322:27511:11551,LH00166:238:23LG7FLT4:6:1359:36515:19104,LH00166:238:23LG7FLT4:6:1360:5466:1252,LH00166:238:23LG7FLT4:6:1366:20456:2331,LH00166:238:23LG7FLT4:6:1435:14292:14410,LH00166:238:23LG7FLT4:6:2176:32915:15054,LH00166:238:23LG7FLT4:6:2267:48108:11243,LH00166:238:23LG7FLT4:6:2329:20189:14424,LH00166:238:23LG7FLT4:6:2449:25286:25353,LH00166:238:23LG7FLT4:7:1108:26208:9267,LH00166:238:23LG7FLT4:7:1123:20036:27974,LH00166:238:23LG7FLT4:7:1271:23539:2121,LH00166:238:23LG7FLT4:7:1312:13208:11860,LH00166:238:23LG7FLT4:7:1322:41013:8370,LH00166:238:23LG7FLT4:7:1388:31038:10570,LH00166:238:23LG7FLT4:7:1452:1324:8286 |
| MBD5 | EIF3A | +/+ | -/- | chr2:148102770 | chr10:119049830 | intron | CDS | translocation | 0 | 2 | 0 | 12 | 4749 | low | . | . | . | . | . | ENSG00000204406.14 | ENSG00000107581.13 | . | ENST00000369144.8 | downstream | downstream | duplicates(4),mismappers(2) | GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAAGAGAGA|AGACTTGGCGATAGTTCCCTTTCTAGAAAG___GACTCTCGTTGGGGAGATAGAGATTCAGAAGGCACCTGGAGAAAAGGACCTGAAGCAGATTCTGAGTGGAG | . | LH00166:238:23LG7FLT4:5:2294:48367:19510,LH00166:238:23LG7FLT4:5:2426:33845:6353,LH00166:238:23LG7FLT4:5:2463:21152:13317,LH00166:238:23LG7FLT4:6:1140:22228:29333,LH00166:238:23LG7FLT4:6:2254:24081:19370,LH00166:238:23LG7FLT4:6:2254:24089:19384,LH00166:238:23LG7FLT4:6:2429:31564:7558,LH00166:238:23LG7FLT4:7:1385:37526:22425 |
| SPRED2 | STARD7 | -/- | -/- | chr2:65431962 | chr2:96195549 | CDS/splice-site | CDS/splice-site | duplication | 2 | 0 | 0 | 755 | 956 | low | in-frame | . | |START_domain(100%) | . | . | ENSG00000198369.10 | ENSG00000084090.14 | ENST00000356388.9 | ENST00000337288.10 | upstream | downstream | duplicates(4) | GCGATCTCCGGAGATGTGAAGAAGGGGGGCGAGCGGACAGGAAGATGAAGGGAGCAAAGCTGCCCGCCGCGGGACAGGCGTCTAGGTGAACAAGAAAATGACCGAAGAAACACACCCAGACGA|ATCTATTAATGAGATGAAG | MTEETHPDe|SINEM | LH00166:238:23LG7FLT4:6:1257:12739:8132,LH00166:238:23LG7FLT4:6:1364:46700:15307,LH00166:238:23LG7FLT4:6:1367:48181:10472,LH00166:238:23LG7FLT4:6:2208:14122:5288,LH00166:238:23LG7FLT4:6:2495:4738:26614,LH00166:238:23LG7FLT4:7:1159:2747:10668 |
| RAB22A | KTN1 | +/+ | +/+ | chr20:58311122 | chr14:55670729 | CDS/splice-site | CDS/splice-site | translocation | 2 | 0 | 0 | 783 | 3882 | low | out-of-frame | . | Ras_family(20%)| | . | . | ENSG00000124209.4 | ENSG00000126777.18 | ENST00000244040.4 | ENST00000395314.8 | downstream | upstream | duplicates(5) | GGTAAATCGAGTATTGTGTGGCGGTTTGTGGAAGACAGTTTTGATCCAAACATCAACCCAACAATAGG|AGTTATGGTGAATGGTTGCATGGATTTGAAAAAAAG | GKSSIVWRFVEDSFDPNINPTIg|vmvngcmdlkk | LH00166:238:23LG7FLT4:5:1267:5296:4209,LH00166:238:23LG7FLT4:5:2187:24623:21822,LH00166:238:23LG7FLT4:5:2317:35213:20407,LH00166:238:23LG7FLT4:6:1380:5814:20911,LH00166:238:23LG7FLT4:6:1467:8394:8230,LH00166:238:23LG7FLT4:6:2141:47380:13653,LH00166:238:23LG7FLT4:6:2216:1971:11565 |
| LINC00486 | LUC7L3 | +/+ | +/+ | chr2:32916559 | chr17:50745908 | intron | CDS/splice-site | translocation | 0 | 0 | 0 | 65535 | 5633 | low | . | . | . | . | . | ENSG00000230876.8 | ENSG00000108848.16 | . | ENST00000505658.6 | downstream | upstream | inconsistently_clipped(1) | GGGGGGGGGGGGGGGGgGGGGGGGGGGGGgGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGtGG|TTCACGAAGTAGACACTCAAGCCGAAC | . | LH00166:238:23LG7FLT4:6:1354:15360:7488 |
28 rows