aih-tih-sc-0754d2-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-0754d2-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-0754d2-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/bd/c370fd1c7c08b2982071a49ed94c55/aih-tih-sc-0754d2-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 29.0 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-0754d2-R1_A23YTGFLT4_1)
Attempt

Content

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#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

EMP2

C1QTNF4

-/-

chr16:10580549

chr11:47590815

5'UTR/splice-site

translocation

441

242

high

|C1q_domain(100%)

ENSG00000213853.10

ENSG00000172247.4

ENST00000342147.4

ENST00000302514.4

upstream

downstream

duplicates(95),mismatches(1)

CCCAGAGCTTCAAAACAGCCCGGCGGCCTCGCCTCGCACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|GCGCCATGCTGCCGCTTCTGCTGGGCCTGCTGGGCCCAGCGGCCTGCTGGGCCCTGGGCCCGACCCCCGGCCCGGGATCCTCTGAGCTGCGCTCGGCCTTCTCGGCGGCACGCACCACCCCCCTGGAGGGCACGTCGGAGATGGCGGTGACCTTCGACAAGGTGTACGT

LH00995:48:23YTGFLT4:1:1141:38562:24078,LH00995:48:23YTGFLT4:1:1230:45883:1925,LH00995:48:23YTGFLT4:1:1278:43950:2219,LH00995:48:23YTGFLT4:1:1372:11501:28436,LH00995:48:23YTGFLT4:1:1426:15441:8188,LH00995:48:23YTGFLT4:1:1426:26192:7642,LH00995:48:23YTGFLT4:1:1485:5530:10444,LH00995:48:23YTGFLT4:1:1493:35075:24316,LH00995:48:23YTGFLT4:1:2272:43181:10865,LH00995:48:23YTGFLT4:1:2336:38319:3340,LH00995:48:23YTGFLT4:1:2368:23490:14900,LH00995:48:23YTGFLT4:1:2441:38764:7081,LH00995:48:23YTGFLT4:2:1109:35164:6815,LH00995:48:23YTGFLT4:2:1165:1291:1869,LH00995:48:23YTGFLT4:2:1207:49435:4489,LH00995:48:23YTGFLT4:2:1218:31839:11033,LH00995:48:23YTGFLT4:2:1270:6606:12000,LH00995:48:23YTGFLT4:2:1303:13620:11005,LH00995:48:23YTGFLT4:2:2290:49872:22453,LH00995:48:23YTGFLT4:2:2312:11784:1210,LH00995:48:23YTGFLT4:2:2312:23717:28744,LH00995:48:23YTGFLT4:2:2367:32316:18557,LH00995:48:23YTGFLT4:2:2384:30561:18263,LH00995:48:23YTGFLT4:3:1123:11622:20631,LH00995:48:23YTGFLT4:3:1163:7682:29137,LH00995:48:23YTGFLT4:3:1198:28134:25129,LH00995:48:23YTGFLT4:3:1198:28142:25115,LH00995:48:23YTGFLT4:3:1268:51829:8805,LH00995:48:23YTGFLT4:3:1285:11549:24541,LH00995:48:23YTGFLT4:3:1362:11234:3060,LH00995:48:23YTGFLT4:3:1412:6250:18053,LH00995:48:23YTGFLT4:3:2109:28951:7628,LH00995:48:23YTGFLT4:3:2156:45527:20589,LH00995:48:23YTGFLT4:3:2170:2019:12098,LH00995:48:23YTGFLT4:3:2179:34743:9141,LH00995:48:23YTGFLT4:3:2195:14907:1378,LH00995:48:23YTGFLT4:3:2217:35140:5540,LH00995:48:23YTGFLT4:3:2223:50487:17745,LH00995:48:23YTGFLT4:3:2235:16638:11019,LH00995:48:23YTGFLT4:3:2428:30383:4727,LH00995:48:23YTGFLT4:4:1130:33627:24919,LH00995:48:23YTGFLT4:4:1233:15012:29473,LH00995:48:23YTGFLT4:4:1233:15020:29487,LH00995:48:23YTGFLT4:4:1233:15028:29473,LH00995:48:23YTGFLT4:4:1247:18135:9660,LH00995:48:23YTGFLT4:4:1327:34881:26699,LH00995:48:23YTGFLT4:4:1349:23110:6507,LH00995:48:23YTGFLT4:4:1417:5490:24835,LH00995:48:23YTGFLT4:4:1452:37154:18389,LH00995:48:23YTGFLT4:4:1469:30035:22621,LH00995:48:23YTGFLT4:4:1469:30043:22607,LH00995:48:23YTGFLT4:4:2161:40876:26488,LH00995:48:23YTGFLT4:4:2210:20351:1785,LH00995:48:23YTGFLT4:4:2210:33457:2850,LH00995:48:23YTGFLT4:4:2230:24129:3564,LH00995:48:23YTGFLT4:4:2254:1760:11033,LH00995:48:23YTGFLT4:4:2288:15222:9407,LH00995:48:23YTGFLT4:4:2370:31313:6311,LH00995:48:23YTGFLT4:4:2386:15635:2583,LH00995:48:23YTGFLT4:4:2444:35213:24667,LH00995:48:23YTGFLT4:5:1207:39694:15026,LH00995:48:23YTGFLT4:5:1302:41806:14564,LH00995:48:23YTGFLT4:5:1305:10781:17016,LH00995:48:23YTGFLT4:5:2184:7634:2121,LH00995:48:23YTGFLT4:5:2216:30617:27890,LH00995:48:23YTGFLT4:5:2308:40067:23069,LH00995:48:23YTGFLT4:5:2422:6995:4769,LH00995:48:23YTGFLT4:5:2438:41482:14003,LH00995:48:23YTGFLT4:5:2448:39759:13793,LH00995:48:23YTGFLT4:6:1154:51182:11355,LH00995:48:23YTGFLT4:6:1159:14640:27371,LH00995:48:23YTGFLT4:6:1192:11776:3214,LH00995:48:23YTGFLT4:6:1211:48828:2738,LH00995:48:23YTGFLT4:6:1211:49718:29361,LH00995:48:23YTGFLT4:6:1257:28797:26054,LH00995:48:23YTGFLT4:6:1268:11517:29557,LH00995:48:23YTGFLT4:6:1413:8694:19006,LH00995:48:23YTGFLT4:6:1449:25755:17170,LH00995:48:23YTGFLT4:6:1476:33166:25970,LH00995:48:23YTGFLT4:6:2287:26289:19020,LH00995:48:23YTGFLT4:6:2330:44290:21920,LH00995:48:23YTGFLT4:6:2445:44379:16021,LH00995:48:23YTGFLT4:6:2451:2974:6941,LH00995:48:23YTGFLT4:6:2452:2723:12616,LH00995:48:23YTGFLT4:7:1102:22827:25998,LH00995:48:23YTGFLT4:7:1240:32680:13023,LH00995:48:23YTGFLT4:7:1303:26306:8455,LH00995:48:23YTGFLT4:7:1361:46733:7992,LH00995:48:23YTGFLT4:7:1374:14082:17689,LH00995:48:23YTGFLT4:7:1384:8734:9491,LH00995:48:23YTGFLT4:7:1403:39508:18459,LH00995:48:23YTGFLT4:7:2243:12876:21738,LH00995:48:23YTGFLT4:7:2451:48545:2892,LH00995:48:23YTGFLT4:7:2495:31224:28941,LH00995:48:23YTGFLT4:8:1176:14640:22747,LH00995:48:23YTGFLT4:8:1194:45560:25634,LH00995:48:23YTGFLT4:8:1201:41677:10360,LH00995:48:23YTGFLT4:8:1251:42219:19118,LH00995:48:23YTGFLT4:8:1295:36734:19174,LH00995:48:23YTGFLT4:8:1303:47056:15783,LH00995:48:23YTGFLT4:8:1372:36645:22803,LH00995:48:23YTGFLT4:8:1451:26702:6255,LH00995:48:23YTGFLT4:8:2131:23474:12126,LH00995:48:23YTGFLT4:8:2213:3581:9337,LH00995:48:23YTGFLT4:8:2288:17698:10332,LH00995:48:23YTGFLT4:8:2427:43845:23055,LH00995:48:23YTGFLT4:8:2440:30431:29669,LH00995:48:23YTGFLT4:8:2461:12318:6507,LH00995:48:23YTGFLT4:1:1204:1607:12981,LH00995:48:23YTGFLT4:6:2353:21638:11579,LH00995:48:23YTGFLT4:8:1252:40350:16133

ZNF827

GALNT7

-/-

+/+

chr4:145938365

chr4:173247980

CDS/splice-site

inversion

133

446

high

out-of-frame

|Glycosyl_transferase_family_2(100%),Ricin-type_beta-trefoil_lectin_domain(100%)

ENSG00000151612.18

ENSG00000109586.12

ENST00000508784.6

ENST00000265000.9

upstream

duplicates(14)

GGAAAATGCCCAGGAGGAAGCAGGAGCAGCCCAAGCGCCTTCCCTCAC|GAAGACAGAGATGTCAATGACCCCATGCCCAACCGAGGCGGCAATGGACTAGCTCCT

MPRRKQEQPKRLPS|rrqrcq*

LH00995:48:23YTGFLT4:2:1290:22803:19903,LH00995:48:23YTGFLT4:2:2123:13175:16568,LH00995:48:23YTGFLT4:2:2421:2343:10080,LH00995:48:23YTGFLT4:5:1233:45487:14830,LH00995:48:23YTGFLT4:5:1344:28546:3760,LH00995:48:23YTGFLT4:5:2447:13556:13499,LH00995:48:23YTGFLT4:6:1172:51546:19160,LH00995:48:23YTGFLT4:6:2211:4139:11761,LH00995:48:23YTGFLT4:6:2259:23628:2920,LH00995:48:23YTGFLT4:8:1291:35010:19300,LH00995:48:23YTGFLT4:8:2323:47712:26671,LH00995:48:23YTGFLT4:4:2192:22552:16245,LH00995:48:23YTGFLT4:5:1177:41741:10893,LH00995:48:23YTGFLT4:6:1143:39258:2079,LH00995:48:23YTGFLT4:7:1150:32583:15993,LH00995:48:23YTGFLT4:8:1434:51611:4279

NUMA1

CASC3

-/-

+/+

chr11:72035902

chr17:40169324

CDS/splice-site

translocation

275

100

high

in-frame

ENSG00000137497.18

ENSG00000108349.17

ENST00000613205.4

ENST00000264645.12

upstream

duplicates(6)

CTCCACGCCACCCGGGGGGCTGCACTCCTCTCTTGG|GCCCCATCACAGGTATATGGAGGAGTGACCTAtTATAACCCCGCCCAGCAGCAGGTGCAGCCAAAGC

LHATRGAALLSW|APSQVYGGVTYYNPAQQQVQPK

LH00995:48:23YTGFLT4:2:1433:46620:27946,LH00995:48:23YTGFLT4:1:1440:7399:25087,LH00995:48:23YTGFLT4:1:2245:20376:26600,LH00995:48:23YTGFLT4:2:1201:27115:1785,LH00995:48:23YTGFLT4:3:1122:6809:19020,LH00995:48:23YTGFLT4:3:1122:6817:19006,LH00995:48:23YTGFLT4:4:2277:30278:10767,LH00995:48:23YTGFLT4:8:2256:38117:10108

KAT2B

+/+

chr3:20040533

chr3:20040522

CDS

duplication/ITD

211

375

medium

in-frame

|Acetyltransferase_(GNAT)_family(100%),Bromodomain(100%),PCAF_(P300/CBP-associated_factor)_N-terminal_domain(100%)

ENSG00000114166.8

ENST00000263754.5

downstream

upstream

duplicates(63)

CCGAGGCTGGCGGGGCCGGGCCGGGCGGCTGCGGGGCAGGAGCCGGGGCAGG|AGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC

EAGGAGPGGCGAGAGAg|AGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSG

LH00995:48:23YTGFLT4:1:2147:26265:16147,LH00995:48:23YTGFLT4:1:2148:16331:7516,LH00995:48:23YTGFLT4:1:2177:6396:22593,LH00995:48:23YTGFLT4:1:2246:36912:6619,LH00995:48:23YTGFLT4:1:2264:43877:14172,LH00995:48:23YTGFLT4:2:1315:33926:5456,LH00995:48:23YTGFLT4:2:1320:31435:12182,LH00995:48:23YTGFLT4:2:1450:46700:21612,LH00995:48:23YTGFLT4:2:2201:30116:15727,LH00995:48:23YTGFLT4:2:2450:17908:9043,LH00995:48:23YTGFLT4:3:1134:8071:9043,LH00995:48:23YTGFLT4:3:1134:8079:9029,LH00995:48:23YTGFLT4:3:1351:27689:28030,LH00995:48:23YTGFLT4:3:1497:37923:21794,LH00995:48:23YTGFLT4:3:2162:27317:5554,LH00995:48:23YTGFLT4:4:1296:2311:4083,LH00995:48:23YTGFLT4:4:2111:50147:6787,LH00995:48:23YTGFLT4:4:2225:8402:7376,LH00995:48:23YTGFLT4:4:2395:8863:13499,LH00995:48:23YTGFLT4:5:1182:26783:11944,LH00995:48:23YTGFLT4:5:2252:40770:12546,LH00995:48:23YTGFLT4:6:1164:22212:15853,LH00995:48:23YTGFLT4:6:1197:7666:7193,LH00995:48:23YTGFLT4:6:1461:41337:24653,LH00995:48:23YTGFLT4:6:1480:32753:5442,LH00995:48:23YTGFLT4:6:1486:45519:8132,LH00995:48:23YTGFLT4:6:2108:33214:27343,LH00995:48:23YTGFLT4:6:2193:47509:25592,LH00995:48:23YTGFLT4:6:2270:39282:15377,LH00995:48:23YTGFLT4:6:2380:11072:24723,LH00995:48:23YTGFLT4:6:2430:12828:25101,LH00995:48:23YTGFLT4:7:1150:32179:14424,LH00995:48:23YTGFLT4:7:1233:50851:21654,LH00995:48:23YTGFLT4:7:1274:47016:15236,LH00995:48:23YTGFLT4:7:1327:23854:16596,LH00995:48:23YTGFLT4:7:1347:18491:28352,LH00995:48:23YTGFLT4:7:2371:27737:18613,LH00995:48:23YTGFLT4:7:2371:27737:18613,LH00995:48:23YTGFLT4:8:1220:9737:26923,LH00995:48:23YTGFLT4:8:1232:51482:17366,LH00995:48:23YTGFLT4:8:1339:37534:11537,LH00995:48:23YTGFLT4:8:1339:37543:11523,LH00995:48:23YTGFLT4:8:1390:35302:27287,LH00995:48:23YTGFLT4:8:1481:37001:7642,LH00995:48:23YTGFLT4:8:2240:35334:8735,LH00995:48:23YTGFLT4:8:2269:44629:16287,LH00995:48:23YTGFLT4:8:2338:33942:6044,LH00995:48:23YTGFLT4:1:2147:26265:16147,LH00995:48:23YTGFLT4:1:2148:16331:7516,LH00995:48:23YTGFLT4:1:2177:6396:22593,LH00995:48:23YTGFLT4:1:2246:36912:6619,LH00995:48:23YTGFLT4:1:2264:43877:14172,LH00995:48:23YTGFLT4:2:1315:33926:5456,LH00995:48:23YTGFLT4:2:1320:31435:12182,LH00995:48:23YTGFLT4:2:1450:46700:21612,LH00995:48:23YTGFLT4:2:2201:30116:15727,LH00995:48:23YTGFLT4:2:2450:17908:9043,LH00995:48:23YTGFLT4:3:1134:8071:9043,LH00995:48:23YTGFLT4:3:1134:8079:9029,LH00995:48:23YTGFLT4:3:1351:27689:28030,LH00995:48:23YTGFLT4:3:1497:37923:21794,LH00995:48:23YTGFLT4:3:2162:27317:5554,LH00995:48:23YTGFLT4:4:1296:2311:4083,LH00995:48:23YTGFLT4:4:2111:50147:6787,LH00995:48:23YTGFLT4:4:2225:8402:7376,LH00995:48:23YTGFLT4:4:2395:8863:13499,LH00995:48:23YTGFLT4:5:1182:26783:11944,LH00995:48:23YTGFLT4:5:2252:40770:12546,LH00995:48:23YTGFLT4:6:1164:22212:15853,LH00995:48:23YTGFLT4:6:1197:7666:7193,LH00995:48:23YTGFLT4:6:1461:41337:24653,LH00995:48:23YTGFLT4:6:1480:32753:5442,LH00995:48:23YTGFLT4:6:1486:45519:8132,LH00995:48:23YTGFLT4:6:2108:33214:27343,LH00995:48:23YTGFLT4:6:2193:47509:25592,LH00995:48:23YTGFLT4:6:2270:39282:15377,LH00995:48:23YTGFLT4:6:2380:11072:24723,LH00995:48:23YTGFLT4:6:2430:12828:25101,LH00995:48:23YTGFLT4:7:1150:32179:14424,LH00995:48:23YTGFLT4:7:1233:50851:21654,LH00995:48:23YTGFLT4:7:1274:47016:15236,LH00995:48:23YTGFLT4:7:1327:23854:16596,LH00995:48:23YTGFLT4:7:1347:18491:28352,LH00995:48:23YTGFLT4:7:1410:4899:15797,LH00995:48:23YTGFLT4:8:1220:9737:26923,LH00995:48:23YTGFLT4:8:1232:51482:17366,LH00995:48:23YTGFLT4:8:1339:37534:11537,LH00995:48:23YTGFLT4:8:1339:37543:11523,LH00995:48:23YTGFLT4:8:1390:35302:27287,LH00995:48:23YTGFLT4:8:1481:37001:7642,LH00995:48:23YTGFLT4:8:2240:35334:8735,LH00995:48:23YTGFLT4:8:2269:44629:16287,LH00995:48:23YTGFLT4:8:2338:33942:6044

GMDS

AC007220.2

-/-

chr6:2245321

chr16:11155725

CDS/splice-site

exon/splice-site

translocation

1559

medium

out-of-frame

GDP-mannose_4_6_dehydratase(2%)|

ENSG00000112699.11

ENSG00000287121.1

ENST00000380815.5

ENST00000667071.1

upstream

downstream

duplicates(6)

GCCCTCTGCCGCGCTCCGCCCTGCCGCCGACCGCACGCCCGCCGCGGGACATGGCACACGCA?CGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGTATCACAGGCCAG|ATTGGGGCTAGGCCAGACCGATGGCTGATGACGTTCTATGACACATCATCTACAACAAGAACTGAAGATACTATCTGGAACTATGTGAGTCAGATAGAATCAGGGAGTATGTGCGGAGC

MAHA?ARCPSARGSGDGEMGKPRNVALITGITGQ|igarpdrwlmtfydtssttrtedtiwnyvsqiesgsmcg

LH00995:48:23YTGFLT4:2:1183:9122:9267,LH00995:48:23YTGFLT4:4:2118:5142:15825,LH00995:48:23YTGFLT4:5:1320:20376:10767,LH00995:48:23YTGFLT4:5:1320:25011:7894,LH00995:48:23YTGFLT4:5:1418:21994:15755,LH00995:48:23YTGFLT4:6:2469:45851:19608,LH00995:48:23YTGFLT4:6:2498:20036:15363,LH00995:48:23YTGFLT4:5:2258:7771:24947,LH00995:48:23YTGFLT4:5:2314:24825:11691

MORC2

KDM1B

-/-

+/+

chr22:30939621

chr6:18159883

CDS/splice-site

5'UTR/splice-site

translocation

medium

in-frame

Histidine_kinase-__DNA_gyrase_B-__and_HSP90-like_ATPase(100%),Morc6_ribosomal_protein_S5_domain_2-like(24%)|CW-type_Zinc_Finger(100%),Flavin_containing_amine_oxidoreductase(100%),SWIRM_domain(100%)

ENSG00000133422.14

ENSG00000165097.16

ENST00000397641.8

ENST00000650836.2

upstream

duplicates(2)

GATGTTGCGACAGGTCCAGAACAGAGCCATCACTCTGCGCAGAGAAGCCGATGTCAAGAAGAGGATCAAGGAGGCCAAGCAGCG|ATTATTTAATGTAATGGCAACTCCACGGGGGAGGACAAAG

MLRQVQNRAITLRREADVKKRIKEAKQr|lfnvMATPRGRT

LH00995:48:23YTGFLT4:1:1370:22835:7684,LH00995:48:23YTGFLT4:2:1133:25666:21304,LH00995:48:23YTGFLT4:4:1165:8451:9029,LH00995:48:23YTGFLT4:4:2325:14211:29179

C5orf51

DDX17

+/+

-/-

chr5:41904467

chr22:38501280

CDS/splice-site

translocation

170

medium

out-of-frame

|DEAD/DEAH_box_helicase(100%),Helicase_conserved_C-terminal_domain(100%)

ENSG00000205765.9

ENSG00000100201.23

ENST00000381647.7

ENST00000396821.8

downstream

duplicates(2)

CTAGTGTGGTGAGACGAGTGGAAGAGCTCGGGGATCTGGCTCAGGCCCACATACAGCAACTTAGCGAAGCTGCCGGTGAAGATG|ATTTGGAGCAAGAGGTGGTGGTGGCCTTCCCCCGAAGAAATTTGGTAATCCTGGGGAGCGTTTGCGTAAAAAAAA

SVVRRVEELGDLAQAHIQQLSEAAGED|dleqevvvafprrnlvilgsvcvkk

LH00995:48:23YTGFLT4:1:2331:29493:7586,LH00995:48:23YTGFLT4:2:1272:50462:12546,LH00995:48:23YTGFLT4:2:1272:50470:12560,LH00995:48:23YTGFLT4:7:1379:21104:29235

PDGFC

FAT1

-/-

chr4:156970786

chr4:186709845

CDS/splice-site

5'UTR/splice-site

duplication

108

604

medium

out-of-frame

|Cadherin_domain(100%),EGF-like_domain(100%),Laminin_G_domain(100%)

ENSG00000145431.11

ENSG00000083857.14

ENST00000502773.6

ENST00000441802.7

upstream

downstream

duplicates(4)

GCGGAATCCAACCTGAGTAGTAAATTCCAGTTTTCCAGCAACAAGGAACAGAACG|ATTCCCGACAtTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGC

AESNLSSKFQFSSNKEQN|dsrhlsngetfgfapasapslptfwrq*

LH00995:48:23YTGFLT4:1:1126:1882:29599,LH00995:48:23YTGFLT4:3:1217:34695:27049,LH00995:48:23YTGFLT4:3:1423:50535:16568,LH00995:48:23YTGFLT4:3:2198:29711:19342,LH00995:48:23YTGFLT4:5:1362:46967:5764,LH00995:48:23YTGFLT4:8:2448:35593:12546

EIF4A2

NAB1

+/+

chr3:186784696

chr2:190673101

CDS/splice-site

translocation

871

medium

out-of-frame

DEAD/DEAH_box_helicase(7%)|Conserved_region_in_Nab1(100%)

ENSG00000156976.17

ENSG00000138386.17

ENST00000426808.5

ENST00000337386.10

downstream

upstream

duplicates(2)

TGGTGTCATCGAG___AGCAACTGGAATGAGATTGTTGATAACTTTGATGATATGAATTTAAAGGAGTCTCTCCTTCGTGGCATCTATGCTTACGGTTTTGAGAAGCCTTCCGCTATTCAGCAGAGAGCTATTATTCCCTGTATTAAAG|GTCAAAATGTGGAGAAAGAGATGAA

GVIESNWNEIVDNFDDMNLKESLLRGIYAYGFEKPSAIQQRAIIPCIK|gqnvekem

LH00995:48:23YTGFLT4:3:2491:42930:18193,LH00995:48:23YTGFLT4:5:1242:23571:16890,LH00995:48:23YTGFLT4:5:2189:17908:19861,LH00995:48:23YTGFLT4:5:2408:6048:16498

NPEPPS

FP671120.4

+/+

chr17:47531345

chr21:8214653

CDS

intron

translocation

23347

22031

low

out-of-frame

ENSG00000141279.17

ENSG00000278996.1

ENST00000677120.1

downstream

upstream

duplicates(107),mismatches(20)

TCCCCCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

MWLAAAAPSLARRLL|vrpsvrppp

LH00995:48:23YTGFLT4:1:1226:14195:1631,LH00995:48:23YTGFLT4:1:1259:33821:27777,LH00995:48:23YTGFLT4:1:1319:40366:18599,LH00995:48:23YTGFLT4:1:1339:43505:19496,LH00995:48:23YTGFLT4:1:1340:48286:7880,LH00995:48:23YTGFLT4:1:1407:45277:10823,LH00995:48:23YTGFLT4:1:1462:48771:17941,LH00995:48:23YTGFLT4:1:1475:30100:5330,LH00995:48:23YTGFLT4:1:1491:14939:22257,LH00995:48:23YTGFLT4:1:2121:32519:15825,LH00995:48:23YTGFLT4:1:2194:45770:14984,LH00995:48:23YTGFLT4:1:2216:1825:27511,LH00995:48:23YTGFLT4:1:2337:33028:26853,LH00995:48:23YTGFLT4:1:2464:14931:12966,LH00995:48:23YTGFLT4:2:1149:6890:14788,LH00995:48:23YTGFLT4:2:1151:38570:29697,LH00995:48:23YTGFLT4:2:1171:27794:7390,LH00995:48:23YTGFLT4:2:1207:10158:20477,LH00995:48:23YTGFLT4:2:1232:13402:19959,LH00995:48:23YTGFLT4:2:1309:14664:14802,LH00995:48:23YTGFLT4:2:1309:14672:14816,LH00995:48:23YTGFLT4:2:1334:38885:8749,LH00995:48:23YTGFLT4:2:1347:38594:22201,LH00995:48:23YTGFLT4:2:1367:25990:26040,LH00995:48:23YTGFLT4:2:1381:3937:12644,LH00995:48:23YTGFLT4:2:1389:24987:7235,LH00995:48:23YTGFLT4:2:1451:42405:6269,LH00995:48:23YTGFLT4:2:1461:33837:8609,LH00995:48:23YTGFLT4:2:1484:51668:24919,LH00995:48:23YTGFLT4:2:1485:51813:3424,LH00995:48:23YTGFLT4:2:2129:30626:17591,LH00995:48:23YTGFLT4:2:2132:6153:8413,LH00995:48:23YTGFLT4:2:2153:47340:5036,LH00995:48:23YTGFLT4:2:2202:15004:19398,LH00995:48:23YTGFLT4:2:2230:11096:18908,LH00995:48:23YTGFLT4:2:2240:38974:7894,LH00995:48:23YTGFLT4:2:2287:7205:1406,LH00995:48:23YTGFLT4:2:2427:20659:2149,LH00995:48:23YTGFLT4:2:2440:7496:26657,LH00995:48:23YTGFLT4:3:1256:37672:27497,LH00995:48:23YTGFLT4:3:1258:5328:19819,LH00995:48:23YTGFLT4:3:1453:33133:23924,LH00995:48:23YTGFLT4:3:1469:26564:7278,LH00995:48:23YTGFLT4:3:1469:7537:20673,LH00995:48:23YTGFLT4:3:1480:15789:18263,LH00995:48:23YTGFLT4:3:1480:15797:18249,LH00995:48:23YTGFLT4:3:1486:13467:26320,LH00995:48:23YTGFLT4:3:2101:36005:3536,LH00995:48:23YTGFLT4:3:2218:49605:24344,LH00995:48:23YTGFLT4:3:2246:10619:27245,LH00995:48:23YTGFLT4:3:2263:11007:11243,LH00995:48:23YTGFLT4:3:2310:22689:10066,LH00995:48:23YTGFLT4:3:2324:5490:25479,LH00995:48:23YTGFLT4:3:2440:36798:10094,LH00995:48:23YTGFLT4:3:2466:29388:11523,LH00995:48:23YTGFLT4:3:2475:39419:22117,LH00995:48:23YTGFLT4:4:1146:13685:7558,LH00995:48:23YTGFLT4:4:1196:31588:28058,LH00995:48:23YTGFLT4:4:1238:41822:14200,LH00995:48:23YTGFLT4:4:1249:15716:23322,LH00995:48:23YTGFLT4:4:1293:52145:23784,LH00995:48:23YTGFLT4:4:1334:45924:17717,LH00995:48:23YTGFLT4:4:1443:51150:6507,LH00995:48:23YTGFLT4:4:1459:7820:10851,LH00995:48:23YTGFLT4:4:2139:42421:27904,LH00995:48:23YTGFLT4:4:2195:18685:29053,LH00995:48:23YTGFLT4:4:2268:25189:5708,LH00995:48:23YTGFLT4:4:2328:30197:23041,LH00995:48:23YTGFLT4:4:2336:23514:10458,LH00995:48:23YTGFLT4:4:2369:6623:20687,LH00995:48:23YTGFLT4:4:2386:49742:29179,LH00995:48:23YTGFLT4:4:2413:3362:19216,LH00995:48:23YTGFLT4:4:2427:34209:17128,LH00995:48:23YTGFLT4:4:2448:29914:22719,LH00995:48:23YTGFLT4:4:2484:29186:9716,LH00995:48:23YTGFLT4:4:2495:35439:12868,LH00995:48:23YTGFLT4:5:1118:27106:25844,LH00995:48:23YTGFLT4:5:1146:32179:24204,LH00995:48:23YTGFLT4:5:1213:45754:26054,LH00995:48:23YTGFLT4:5:1235:35714:4013,LH00995:48:23YTGFLT4:5:1275:13062:21668,LH00995:48:23YTGFLT4:5:1297:3095:29515,LH00995:48:23YTGFLT4:5:1333:15060:15685,LH00995:48:23YTGFLT4:5:1337:7577:9786,LH00995:48:23YTGFLT4:5:1337:7585:9772,LH00995:48:23YTGFLT4:5:1338:10150:23658,LH00995:48:23YTGFLT4:5:1376:33150:24036,LH00995:48:23YTGFLT4:5:1385:4576:1729,LH00995:48:23YTGFLT4:5:1438:34630:11972,LH00995:48:23YTGFLT4:5:2130:22738:3396,LH00995:48:23YTGFLT4:5:2143:37696:23252,LH00995:48:23YTGFLT4:5:2158:47437:14340,LH00995:48:23YTGFLT4:5:2160:13709:2135,LH00995:48:23YTGFLT4:5:2241:31540:10402,LH00995:48:23YTGFLT4:5:2311:28676:10374,LH00995:48:23YTGFLT4:5:2349:35811:7516,LH00995:48:23YTGFLT4:5:2351:7868:17296,LH00995:48:23YTGFLT4:5:2435:8904:14158,LH00995:48:23YTGFLT4:5:2441:27228:8455,LH00995:48:23YTGFLT4:5:2446:20497:4895,LH00995:48:23YTGFLT4:5:2450:40770:10781,LH00995:48:23YTGFLT4:6:1107:37656:17801,LH00995:48:23YTGFLT4:6:1117:49621:14900,LH00995:48:23YTGFLT4:6:1142:51247:26769,LH00995:48:23YTGFLT4:6:1151:6170:4489,LH00995:48:23YTGFLT4:6:1151:6186:4489,LH00995:48:23YTGFLT4:6:1240:46870:6465,LH00995:48:23YTGFLT4:6:1326:4689:9099,LH00995:48:23YTGFLT4:6:1449:36507:12616,LH00995:48:23YTGFLT4:6:1457:19219:6437,LH00995:48:23YTGFLT4:6:1495:33069:1140,LH00995:48:23YTGFLT4:6:2107:6744:22803,LH00995:48:23YTGFLT4:6:2109:37162:27203,LH00995:48:23YTGFLT4:6:2177:11509:9590,LH00995:48:23YTGFLT4:6:2190:17835:18782,LH00995:48:23YTGFLT4:6:2285:31904:10108,LH00995:48:23YTGFLT4:6:2309:21727:17282,LH00995:48:23YTGFLT4:6:2319:19720:10640,LH00995:48:23YTGFLT4:6:2320:18814:9744,LH00995:48:23YTGFLT4:6:2419:33676:22817,LH00995:48:23YTGFLT4:6:2421:13540:19104,LH00995:48:23YTGFLT4:7:1163:47210:6605,LH00995:48:23YTGFLT4:7:1209:12383:15755,LH00995:48:23YTGFLT4:7:1251:8394:19945,LH00995:48:23YTGFLT4:7:1255:20327:3284,LH00995:48:23YTGFLT4:7:1282:37510:19678,LH00995:48:23YTGFLT4:7:1376:32923:17058,LH00995:48:23YTGFLT4:7:1418:34784:27595,LH00995:48:23YTGFLT4:7:1491:7601:6381,LH00995:48:23YTGFLT4:7:2118:35803:9604,LH00995:48:23YTGFLT4:7:2124:4875:12364,LH00995:48:23YTGFLT4:7:2145:6728:6325,LH00995:48:23YTGFLT4:7:2178:48011:6030,LH00995:48:23YTGFLT4:7:2219:35083:13401,LH00995:48:23YTGFLT4:7:2330:8863:13247,LH00995:48:23YTGFLT4:7:2490:8710:24779,LH00995:48:23YTGFLT4:8:1248:20497:25185,LH00995:48:23YTGFLT4:8:1267:51433:3634,LH00995:48:23YTGFLT4:8:1295:49378:10416,LH00995:48:23YTGFLT4:8:1403:27810:1757,LH00995:48:23YTGFLT4:8:1421:33352:25507,LH00995:48:23YTGFLT4:8:1436:35294:14858,LH00995:48:23YTGFLT4:8:1458:22560:8749,LH00995:48:23YTGFLT4:8:1473:31435:23223,LH00995:48:23YTGFLT4:8:2112:6979:14017,LH00995:48:23YTGFLT4:8:2162:7650:12322,LH00995:48:23YTGFLT4:8:2173:21201:22397,LH00995:48:23YTGFLT4:8:2215:14470:8833,LH00995:48:23YTGFLT4:8:2314:15756:10528,LH00995:48:23YTGFLT4:8:2318:27341:7754,LH00995:48:23YTGFLT4:8:2318:27357:7754,LH00995:48:23YTGFLT4:8:2329:44079:5246,LH00995:48:23YTGFLT4:8:2461:39759:21976,LH00995:48:23YTGFLT4:8:2481:42421:20337,LH00995:48:23YTGFLT4:8:2494:32810:22439

MUC1

-/-

chr1:155190986

chr1:155191044

CDS

duplication/ITD

505

348

low

out-of-frame

SEA_domain(1%)|SEA_domain(98%)

ENSG00000185499.16

ENST00000611571.4

upstream

downstream

duplicates(18),homopolymer(1)

CGGACACCAGGCCGGCCCCGGGCTCCACCcC|CCCCAAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCAC

DTRPAPGSTp|pkptvsprprtpgrprappppqptvs

LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502,LH00995:48:23YTGFLT4:4:1105:38894:26502

KRT17P3

FP236383.3

-/-

+/+

chr17:30571742

chr21:8397690

exon

intron

translocation

232

484

low

ENSG00000231870.4

ENSG00000280441.3

ENST00000420566.3

upstream

duplicates(44)

GGGGCCCCTCTCCTCtCCAGCCCTTCTCCTGTGTGCCTGCCTCCTGCCGCCGCCACCATGACCAC|GTCCGTCCGTCCGTCCGTCCTCCTCCT

LH00995:48:23YTGFLT4:1:1343:2610:11131,LH00995:48:23YTGFLT4:1:1361:35601:18838,LH00995:48:23YTGFLT4:1:1472:8281:27511,LH00995:48:23YTGFLT4:1:2156:11962:20407,LH00995:48:23YTGFLT4:1:2373:51069:4321,LH00995:48:23YTGFLT4:1:2472:9187:28352,LH00995:48:23YTGFLT4:2:1275:2885:8693,LH00995:48:23YTGFLT4:2:1384:25286:11565,LH00995:48:23YTGFLT4:2:1401:34242:10346,LH00995:48:23YTGFLT4:2:1436:39330:19917,LH00995:48:23YTGFLT4:2:2191:51271:10837,LH00995:48:23YTGFLT4:2:2358:13645:6143,LH00995:48:23YTGFLT4:2:2468:15166:16708,LH00995:48:23YTGFLT4:3:1131:11833:5386,LH00995:48:23YTGFLT4:3:1171:19664:23125,LH00995:48:23YTGFLT4:3:1323:29631:17577,LH00995:48:23YTGFLT4:3:1323:29639:17563,LH00995:48:23YTGFLT4:3:1425:12585:6633,LH00995:48:23YTGFLT4:3:1426:31855:8847,LH00995:48:23YTGFLT4:3:1497:5013:28884,LH00995:48:23YTGFLT4:3:2283:46377:26713,LH00995:48:23YTGFLT4:3:2313:22374:11649,LH00995:48:23YTGFLT4:3:2482:49079:12616,LH00995:48:23YTGFLT4:4:1140:42631:5288,LH00995:48:23YTGFLT4:4:1231:30909:6114,LH00995:48:23YTGFLT4:4:1295:39355:20071,LH00995:48:23YTGFLT4:4:1440:3427:18908,LH00995:48:23YTGFLT4:4:1440:3443:18908,LH00995:48:23YTGFLT4:4:1467:11121:13009,LH00995:48:23YTGFLT4:4:2184:45341:14858,LH00995:48:23YTGFLT4:4:2247:18571:14452,LH00995:48:23YTGFLT4:4:2371:30512:7306,LH00995:48:23YTGFLT4:5:1272:19801:11537,LH00995:48:23YTGFLT4:5:1388:19194:22173,LH00995:48:23YTGFLT4:5:1495:42308:18936,LH00995:48:23YTGFLT4:5:2214:28700:9463,LH00995:48:23YTGFLT4:5:2290:12423:7081,LH00995:48:23YTGFLT4:6:1319:9438:21668,LH00995:48:23YTGFLT4:6:1443:49370:9393,LH00995:48:23YTGFLT4:6:2349:25319:27988,LH00995:48:23YTGFLT4:6:2407:11938:22215,LH00995:48:23YTGFLT4:6:2420:2335:21108,LH00995:48:23YTGFLT4:6:2456:30262:4433,LH00995:48:23YTGFLT4:7:1258:24712:5862,LH00995:48:23YTGFLT4:7:1326:30456:13541,LH00995:48:23YTGFLT4:7:1396:43197:5120,LH00995:48:23YTGFLT4:7:1439:45641:24064,LH00995:48:23YTGFLT4:7:2271:17075:1603,LH00995:48:23YTGFLT4:8:1269:44298:8567,LH00995:48:23YTGFLT4:8:1282:31888:17759,LH00995:48:23YTGFLT4:8:1298:14850:16470,LH00995:48:23YTGFLT4:8:1301:13305:18137,LH00995:48:23YTGFLT4:8:1397:38740:12336,LH00995:48:23YTGFLT4:8:2391:39225:11860,LH00995:48:23YTGFLT4:8:2491:7011:5218

PSAP(18426),AC073370.1(8605)

PSAP

./-

-/-

chr10:71869751

chr10:71834505

intergenic

CDS/splice-site

deletion/read-through

498

low

|Saposin-like_type_B__region_1(100%),Saposin-like_type_B__region_2(100%),Saposin_A-type_domain(100%)

ENSG00000197746.14

ENST00000394934.4

upstream

downstream

duplicates(21)

GGAGTCCCTCCCTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAG|CTCTAGCCGGCCCGGTCCTTGGACTGAAAGAATGCACCAGGGGCTCGGCAGTGTGGTGCCAGAATGTGAAGACGGCGTC

LH00995:48:23YTGFLT4:1:2154:1518:13779,LH00995:48:23YTGFLT4:1:2215:34129:16988,LH00995:48:23YTGFLT4:2:1116:18361:8427,LH00995:48:23YTGFLT4:3:1150:9325:13989,LH00995:48:23YTGFLT4:3:2283:35747:22593,LH00995:48:23YTGFLT4:3:2416:11388:25522,LH00995:48:23YTGFLT4:4:2222:29776:8861,LH00995:48:23YTGFLT4:5:1422:21176:14368,LH00995:48:23YTGFLT4:5:2375:34606:13275,LH00995:48:23YTGFLT4:6:1401:7909:20617,LH00995:48:23YTGFLT4:6:2239:32972:9351,LH00995:48:23YTGFLT4:6:2326:26281:25171,LH00995:48:23YTGFLT4:8:2106:23862:29557,LH00995:48:23YTGFLT4:1:1183:2278:7390,LH00995:48:23YTGFLT4:1:2431:35698:18445,LH00995:48:23YTGFLT4:4:1371:23328:14900,LH00995:48:23YTGFLT4:4:1371:23336:14886,LH00995:48:23YTGFLT4:4:2172:10967:9632,LH00995:48:23YTGFLT4:5:1184:11064:27651,LH00995:48:23YTGFLT4:5:1394:47534:27119,LH00995:48:23YTGFLT4:6:2135:35027:28100,LH00995:48:23YTGFLT4:6:2429:43934:7544,LH00995:48:23YTGFLT4:6:2443:1825:19132,LH00995:48:23YTGFLT4:8:1286:26670:10795

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

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(4)

GTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGA

SVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:1:2454:31402:5876,LH00995:48:23YTGFLT4:2:1277:10587:6255,LH00995:48:23YTGFLT4:2:2160:32608:3340,LH00995:48:23YTGFLT4:5:2318:12682:9463,LH00995:48:23YTGFLT4:6:1194:35512:2401,LH00995:48:23YTGFLT4:6:2217:9535:13681

SEPTIN5

TBX1

+/+

chr22:19714791

chr22:19759558

CDS/splice-site

5'UTR/splice-site

deletion/read-through

low

out-of-frame

|T-box(100%)

ENSG00000184702.20

ENSG00000184058.15

ENST00000455784.7

ENST00000359500.7

downstream

upstream

duplicates(16)

CCGGCGGCCACCATGAGCACAGGCCTGCGGTACAAGAGCAAGCTGGCGACCCCAG___AGGACAAGCAG|CcGAGGCGGCGGAGCGCACCGCCCACCAGGGCTCAGGGTCCTCCGACCGGGTGAAGCTTCGCTGGCTGCCAGGATCCCCG

MSTGLRYKSKLATPEDKQ|prrrsapptraqgpptg*

LH00995:48:23YTGFLT4:1:2366:3233:21598,LH00995:48:23YTGFLT4:2:1283:44904:25339,LH00995:48:23YTGFLT4:2:1346:44468:17156,LH00995:48:23YTGFLT4:2:2471:36879:14158,LH00995:48:23YTGFLT4:3:1262:3006:25914,LH00995:48:23YTGFLT4:3:2207:13653:2738,LH00995:48:23YTGFLT4:4:1108:43473:5176,LH00995:48:23YTGFLT4:4:1323:34622:18263,LH00995:48:23YTGFLT4:4:2171:45908:23209,LH00995:48:23YTGFLT4:6:1114:29889:3536,LH00995:48:23YTGFLT4:6:1408:48747:23840,LH00995:48:23YTGFLT4:6:2489:33918:20575,LH00995:48:23YTGFLT4:7:1421:19591:10893,LH00995:48:23YTGFLT4:7:2121:29663:15923,LH00995:48:23YTGFLT4:7:2182:48666:13359,LH00995:48:23YTGFLT4:7:2259:1388:4391,LH00995:48:23YTGFLT4:8:1280:6574:11243,LH00995:48:23YTGFLT4:8:2101:10926:5778

LINC00486

EIF2B5

+/+

chr2:32916485

chr3:184135494

intron

CDS/splice-site

translocation

65535

1579

low

|Bacterial_transferase_hexapeptide_(six_repeats)(100%),eIF4-gamma/eIF5/eIF2-epsilon(100%)

ENSG00000230876.8

ENSG00000145191.15

ENST00000648915.2

downstream

upstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGG|GAGGAACCGCCGCCGCCCCTACAAGCAGTTCTGGTGGCCGATAGCTTCGATCGCtGCTTCTTCCCCATCTCCAAGGACC

LH00995:48:23YTGFLT4:6:2420:24768:27876

17 rows