aih-tih-sc-f7ac14-R1_A23YTGFLT4_1.arriba.fusions.tsv

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Filename: aih-tih-sc-f7ac14-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-platform-sandbox/pipeline-outputs/cgp_runs/nextflow/dev_rna_exp0021/A23YTGFLT4/nfcore_rnafusion__d2190e45--20260603-105009/arriba/aih-tih-sc-f7ac14-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 346.2 KB
Workflow Run: dev_rna_exp0021-d2190e45
Published: Jun 03, 2026 3:49 PM

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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

BCL3

+/+

chr19:44759662

chr19:44753981

3'UTR

intron

duplication

353

243

32132

585

high

stop-codon

Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%)|Ankyrin_repeat(85%),Ankyrin_repeats_(3_copies)(100%)

ENSG00000069399.15

ENST00000164227.10

downstream

upstream

duplicates(156),mismatches(39),multimappers(23)

TCCTCCCAATTTCTTCCTTCCTTCCCCATCTCCACCCGCCTTCCTGCCCTTTGCTGGGGTCCTCCGAGGCCCTGGCCGGCCGGTGCCCCCCTCCCCAGCTCCAGGAGGCAGCTGAGGGGGATGGGGGGGCAGATCTTGGACTCATGAGGAGGGGCCCCCCTG|TCCCTTGTTCAAAACTTAAGAATTTCACGACAGCGGCAGCAGGACGTTGGGCTGGTGAAACTGGTCACGCCAAGGGGCCTGAAAGTCTGTGTTCCCAAAGGGCCAGGGTTTGAGGCGC

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GPC1

CFLAR

+/+

+/-

chr2:240436084

chr2:201138993

CDS/splice-site

3'UTR

inversion/3'-3'

5657

336

high

out-of-frame

Glypican(7%)|

ENSG00000063660.9

ENSG00000003402.20

ENST00000264039.7

downstream

duplicates(172),mismatches(1)

CGCTGGTCGCCTGCGCCCGCGGGGACCCGGCCAGCAAGAGCCGGAGCTGCGGCGAGGTCCGCCAGATCTACGGAGCCAAGGGCTTCAGCCTGAGCGACGTGCCCCAGGCGGAGATCTCGG|CAGCTCTTCGCCAGTGACCAGGGACTCACCTACAACGACTTCTTGATTCTCCCAGGATTCATAGACTTCATAGCTGATGAGGTGGACCTGACCTCAGCCCTGACCCAATGGTCACT

LVACARGDPASKSRSCGEVRQIYGAKGFSLSDVPQAEIS|aalrq*

LH00995:48:23YTGFLT4:1:1224:33198:6269,LH00995:48:23YTGFLT4:1:1224:33206:6283,LH00995:48:23YTGFLT4:1:1233:51700:8777,LH00995:48:23YTGFLT4:1:1236:43343:12966,LH00995:48:23YTGFLT4:1:1275:11841:22775,LH00995:48:23YTGFLT4:1:1364:7885:5694,LH00995:48:23YTGFLT4:1:1425:41183:5246,LH00995:48:23YTGFLT4:1:2136:9009:22159,LH00995:48:23YTGFLT4:1:2248:34185:12182,LH00995:48:23YTGFLT4:1:2282:10708:20729,LH00995:48:23YTGFLT4:1:2329:42073:25395,LH00995:48:23YTGFLT4:1:2384:20950:6016,LH00995:48:23YTGFLT4:1:2422:6825:15937,LH00995:48:23YTGFLT4:2:1101:41296:6871,LH00995:48:23YTGFLT4:2:2152:36750:19286,LH00995:48:23YTGFLT4:2:2452:8888:5946,LH00995:48:23YTGFLT4:3:1232:15303:18039,LH00995:48:23YTGFLT4:3:1275:18855:13793,LH00995:48:23YTGFLT4:3:2191:43804:4013,LH00995:48:23YTGFLT4:3:2235:31669:14690,LH00995:48:23YTGFLT4:3:2432:24194:25676,LH00995:48:23YTGFLT4:3:2481:19874:22397,LH00995:48:23YTGFLT4:4:1117:21937:1168,LH00995:48:23YTGFLT4:4:1338:19599:12644,LH00995:48:23YTGFLT4:4:1344:8265:23980,LH00995:48:23YTGFLT4:4:1370:46725:1673,LH00995:48:23YTGFLT4:4:1382:6720:12644,LH00995:48:23YTGFLT4:4:1382:6736:12644,LH00995:48:23YTGFLT4:4:2304:30253:13583,LH00995:48:23YTGFLT4:4:2334:10506:23350,LH00995:48:23YTGFLT4:5:1106:26670:13597,LH00995:48:23YTGFLT4:5:1145:51611:14284,LH00995:48:23YTGFLT4:5:2111:33489:21458,LH00995:48:23YTGFLT4:5:2310:7148:13751,LH00995:48:23YTGFLT4:5:2404:26969:13723,LH00995:48:23YTGFLT4:6:1329:28773:3032,LH00995:48:23YTGFLT4:6:2228:41879:21892,LH00995:48:23YTGFLT4:6:2252:32875:6185,LH00995:48:23YTGFLT4:6:2319:19639:21878,LH00995:48:23YTGFLT4:6:2324:40431:6100,LH00995:48:23YTGFLT4:6:2472:34897:17142,LH00995:48:23YTGFLT4:7:1161:49621:11649,LH00995:48:23YTGFLT4:7:1215:51409:22004,LH00995:48:23YTGFLT4:7:1232:40253:2429,LH00995:48:23YTGFLT4:7:1232:40924:9814,LH00995:48:23YTGFLT4:7:1364:1809:7334,LH00995:48:23YTGFLT4:7:2105:4818:28520,LH00995:48:23YTGFLT4:7:2424:4657:16722,LH00995:48:23YTGFLT4:7:2453:9867:5820,LH00995:48:23YTGFLT4:8:1380:2901:20043,LH00995:48:23YTGFLT4:8:1430:1987:27595,LH00995:48:23YTGFLT4:8:2298:2464:9477,LH00995:48:23YTGFLT4:8:2336:29145:14550,LH00995:48:23YTGFLT4:1:1202:35124:9576,LH00995:48:23YTGFLT4:1:1231:6606:9393,LH00995:48:23YTGFLT4:1:1258:47275:27371,LH00995:48:23YTGFLT4:1:1324:5490:28983,LH00995:48:23YTGFLT4:1:1380:47825:24849,LH00995:48:23YTGFLT4:1:1435:19518:14130,LH00995:48:23YTGFLT4:1:1464:22261:16329,LH00995:48:23YTGFLT4:1:1497:23167:7810,LH00995:48:23YTGFLT4:1:2112:6525:6815,LH00995:48:23YTGFLT4:1:2120:1453:12014,LH00995:48:23YTGFLT4:1:2213:16209:27063,LH00995:48:23YTGFLT4:1:2307:9446:15713,LH00995:48:23YTGFLT4:1:2390:36823:26418,LH00995:48:23YTGFLT4:1:2398:9058:27679,LH00995:48:23YTGFLT4:1:2449:16492:11607,LH00995:48:23YTGFLT4:1:2496:25941:20211,LH00995:48:23YTGFLT4:2:1176:48731:16105,LH00995:48:23YTGFLT4:2:1219:24930:21402,LH00995:48:23YTGFLT4:2:1243:34218:8651,LH00995:48:23YTGFLT4:2:1271:12601:25942,LH00995:48:23YTGFLT4:2:1325:49767:29697,LH00995:48:23YTGFLT4:2:1335:18806:21304,LH00995:48:23YTGFLT4:2:1350:43286:4657,LH00995:48:23YTGFLT4:2:1408:42623:9365,LH00995:48:23YTGFLT4:2:1417:37729:19300,LH00995:48:23YTGFLT4:2:1482:23288:7992,LH00995:48:23YTGFLT4:2:2104:38764:15321,LH00995:48:23YTGFLT4:2:2107:37098:4531,LH00995:48:23YTGFLT4:2:2124:17536:2429,LH00995:48:23YTGFLT4:2:2149:8362:23083,LH00995:48:23YTGFLT4:2:2163:22956:13947,LH00995:48:23YTGFLT4:2:2223:17277:29025,LH00995:48:23YTGFLT4:2:2243:1736:8356,LH00995:48:23YTGFLT4:2:2298:28126:4489,LH00995:48:23YTGFLT4:2:2338:47760:4279,LH00995:48:23YTGFLT4:2:2421:29323:27301,LH00995:48:23YTGFLT4:2:2435:8629:28786,LH00995:48:23YTGFLT4:2:2442:2068:14480,LH00995:48:23YTGFLT4:2:2442:2084:14480,LH00995:48:23YTGFLT4:3:1117:1647:28184,LH00995:48:23YTGFLT4:3:1139:18264:6521,LH00995:48:23YTGFLT4:3:1139:18272:6507,LH00995:48:23YTGFLT4:3:1235:32600:22691,LH00995:48:23YTGFLT4:3:1328:9996:21038,LH00995:48:23YTGFLT4:3:1340:14963:5568,LH00995:48:23YTGFLT4:3:1420:16808:24513,LH00995:48:23YTGFLT4:3:1421:1890:13583,LH00995:48:23YTGFLT4:3:1421:49071:6549,LH00995:48:23YTGFLT4:3:1474:19874:18445,LH00995:48:23YTGFLT4:3:1480:27001:3662,LH00995:48:23YTGFLT4:3:2108:5037:28114,LH00995:48:23YTGFLT4:3:2119:46199:1967,LH00995:48:23YTGFLT4:3:2130:40196:11467,LH00995:48:23YTGFLT4:3:2170:18216:14480,LH00995:48:23YTGFLT4:3:2170:33708:5442,LH00995:48:23YTGFLT4:3:2206:23256:9057,LH00995:48:23YTGFLT4:3:2241:3192:11047,LH00995:48:23YTGFLT4:3:2253:10198:10570,LH00995:48:23YTGFLT4:3:2292:8726:8553,LH00995:48:23YTGFLT4:3:2331:6040:22901,LH00995:48:23YTGFLT4:3:2371:33627:25564,LH00995:48:23YTGFLT4:3:2406:4649:13513,LH00995:48:23YTGFLT4:3:2417:50665:8469,LH00995:48:23YTGFLT4:3:2474:4034:17212,LH00995:48:23YTGFLT4:4:1107:15449:26250,LH00995:48:23YTGFLT4:4:1114:22673:29459,LH00995:48:23YTGFLT4:4:1127:18094:20323,LH00995:48:23YTGFLT4:4:1192:16031:12770,LH00995:48:23YTGFLT4:4:1207:41644:17591,LH00995:48:23YTGFLT4:4:1217:2513:16876,LH00995:48:23YTGFLT4:4:1262:42130:8455,LH00995:48:23YTGFLT4:4:1267:50365:4727,LH00995:48:23YTGFLT4:4:1319:43812:10108,LH00995:48:23YTGFLT4:4:1476:31815:15979,LH00995:48:23YTGFLT4:4:2154:50033:14101,LH00995:48:23YTGFLT4:4:2201:17633:24288,LH00995:48:23YTGFLT4:4:2281:49216:12322,LH00995:48:23YTGFLT4:4:2287:35399:27175,LH00995:48:23YTGFLT4:4:2303:48707:13261,LH00995:48:23YTGFLT4:4:2321:34209:13905,LH00995:48:23YTGFLT4:4:2334:6404:4363,LH00995:48:23YTGFLT4:4:2354:11727:3830,LH00995:48:23YTGFLT4:4:2356:3540:25858,LH00995:48:23YTGFLT4:4:2441:32502:17619,LH00995:48:23YTGFLT4:4:2468:16978:25956,LH00995:48:23YTGFLT4:4:2470:39533:2752,LH00995:48:23YTGFLT4:5:1132:24291:21976,LH00995:48:23YTGFLT4:5:1143:12561:7432,LH00995:48:23YTGFLT4:5:1150:42057:11663,LH00995:48:23YTGFLT4:5:1164:16452:20505,LH00995:48:23YTGFLT4:5:1166:45301:15685,LH00995:48:23YTGFLT4:5:1187:34938:7179,LH00995:48:23YTGFLT4:5:1206:32753:21948,LH00995:48:23YTGFLT4:5:1236:29291:27497,LH00995:48:23YTGFLT4:5:1237:41321:4447,LH00995:48:23YTGFLT4:5:1241:17326:29249,LH00995:48:23YTGFLT4:5:1274:35884:16694,LH00995:48:23YTGFLT4:5:1313:47137:25115,LH00995:48:23YTGFLT4:5:1350:7610:15979,LH00995:48:23YTGFLT4:5:1362:45819:18235,LH00995:48:23YTGFLT4:5:1386:16897:5274,LH00995:48:23YTGFLT4:5:1389:29655:3158,LH00995:48:23YTGFLT4:5:2161:26726:14256,LH00995:48:23YTGFLT4:5:2240:42890:12070,LH00995:48:23YTGFLT4:5:2245:32090:26937,LH00995:48:23YTGFLT4:5:2290:37397:12504,LH00995:48:23YTGFLT4:5:2290:51296:6703,LH00995:48:23YTGFLT4:5:2291:45058:21654,LH00995:48:23YTGFLT4:5:2357:35334:6269,LH00995:48:23YTGFLT4:5:2361:21799:11383,LH00995:48:23YTGFLT4:5:2379:22083:10192,LH00995:48:23YTGFLT4:5:2389:6647:26446,LH00995:48:23YTGFLT4:5:2483:17431:4545,LH00995:48:23YTGFLT4:6:1101:8629:22817,LH00995:48:23YTGFLT4:6:1120:13200:3746,LH00995:48:23YTGFLT4:6:1153:32543:21388,LH00995:48:23YTGFLT4:6:1180:51336:17591,LH00995:48:23YTGFLT4:6:1224:42024:20575,LH00995:48:23YTGFLT4:6:1264:24081:6843,LH00995:48:23YTGFLT4:6:1286:2780:18936,LH00995:48:23YTGFLT4:6:1326:13677:21472,LH00995:48:23YTGFLT4:6:1350:47121:2836,LH00995:48:23YTGFLT4:6:1379:27988:24401,LH00995:48:23YTGFLT4:6:1395:27017:15433,LH00995:48:23YTGFLT4:6:1413:25375:18922,LH00995:48:23YTGFLT4:6:1456:27826:16946,LH00995:48:23YTGFLT4:6:2122:33012:15587,LH00995:48:23YTGFLT4:6:2188:29719:14872,LH00995:48:23YTGFLT4:6:2192:15069:21332,LH00995:48:23YTGFLT4:6:2272:38651:23280,LH00995:48:23YTGFLT4:6:2289:50090:11285,LH00995:48:23YTGFLT4:6:2292:23603:29445,LH00995:48:23YTGFLT4:6:2308:10441:11635,LH00995:48:23YTGFLT4:6:2327:9268:9716,LH00995:48:23YTGFLT4:6:2370:32227:9632,LH00995:48:23YTGFLT4:7:1103:28352:27105,LH00995:48:23YTGFLT4:7:1114:31119:24415,LH00995:48:23YTGFLT4:7:1176:5725:15881,LH00995:48:23YTGFLT4:7:1176:9130:9393,LH00995:48:23YTGFLT4:7:1227:8799:4643,LH00995:48:23YTGFLT4:7:1232:1696:28212,LH00995:48:23YTGFLT4:7:1260:42380:11271,LH00995:48:23YTGFLT4:7:1274:6946:24499,LH00995:48:23YTGFLT4:7:1287:39800:18712,LH00995:48:23YTGFLT4:7:1289:19251:22747,LH00995:48:23YTGFLT4:7:1333:1251:14746,LH00995:48:23YTGFLT4:7:1391:26945:2275,LH00995:48:23YTGFLT4:7:1404:37704:23209,LH00995:48:23YTGFLT4:7:1481:12415:19903,LH00995:48:23YTGFLT4:7:2104:36507:6423,LH00995:48:23YTGFLT4:7:2213:28716:24401,LH00995:48:23YTGFLT4:7:2242:4996:29249,LH00995:48:23YTGFLT4:7:2263:9381:19356,LH00995:48:23YTGFLT4:7:2266:32980:12756,LH00995:48:23YTGFLT4:7:2292:36782:3284,LH00995:48:23YTGFLT4:7:2377:12391:26811,LH00995:48:23YTGFLT4:7:2421:35649:28170,LH00995:48:23YTGFLT4:8:1152:19243:26180,LH00995:48:23YTGFLT4:8:1191:24267:4251,LH00995:48:23YTGFLT4:8:1213:15975:22733,LH00995:48:23YTGFLT4:8:1214:6210:29641,LH00995:48:23YTGFLT4:8:1230:45091:12266,LH00995:48:23YTGFLT4:8:1250:21395:19875,LH00995:48:23YTGFLT4:8:1273:29849:24344,LH00995:48:23YTGFLT4:8:1273:50066:5806,LH00995:48:23YTGFLT4:8:1283:42235:13233,LH00995:48:23YTGFLT4:8:1325:10344:23518,LH00995:48:23YTGFLT4:8:1402:43375:11425,LH00995:48:23YTGFLT4:8:1424:35107:23476,LH00995:48:23YTGFLT4:8:1434:27454:6353,LH00995:48:23YTGFLT4:8:1436:25618:17661,LH00995:48:23YTGFLT4:8:1447:25966:27876,LH00995:48:23YTGFLT4:8:1452:22762:1392,LH00995:48:23YTGFLT4:8:1477:2391:8090,LH00995:48:23YTGFLT4:8:1481:30682:3648,LH00995:48:23YTGFLT4:8:1481:30690:3634,LH00995:48:23YTGFLT4:8:1487:34169:1420,LH00995:48:23YTGFLT4:8:2126:37356:13051,LH00995:48:23YTGFLT4:8:2237:10360:5582,LH00995:48:23YTGFLT4:8:2266:30512:17394,LH00995:48:23YTGFLT4:8:2326:42154:18669,LH00995:48:23YTGFLT4:8:2433:47493:3676,LH00995:48:23YTGFLT4:8:2452:12650:23812

GPC1

IMPDH1P10

+/+

-/-

chr2:240436084

chr2:201138993

CDS/splice-site

exon

inversion

5657

336

high

out-of-frame

Glypican(7%)|

ENSG00000063660.9

ENSG00000232133.1

ENST00000264039.7

ENST00000440965.1

downstream

duplicates(172),mismatches(1)

LVACARGDPASKSRSCGEVRQIYGAKGFSLSDVPQAEIS|aalrq*

GPC1

CFLAR-AS1

+/+

-/-

chr2:240436084

chr2:201140445

CDS/splice-site

exon/splice-site

inversion

5657

2570

high

out-of-frame

Glypican(7%)|

ENSG00000063660.9

ENSG00000226312.7

ENST00000264039.7

ENST00000415011.6

downstream

duplicates(162),mismatches(1)

CGCCTGCGCCCGCGGGGACCCGGCCAGCAAGAGCCGGAGCTGCGGCGAGGTCCGCCAGATCTACGGAGCCAAGGGCTTCAGCCTGAGCGACGTGCCCCAGGCGGAGATCTCGG|ACTCACCCTGAAGTTATTTGAAGGATCCTTGAGACTCTTTTGGATTGCTGCTTGGAGAACATTCCTGTAACTTGTCCCTGCTCCTTGAACTATAAAAGCAGAAGGGAG___ATGACTCTTCGACC

ACARGDPASKSRSCGEVRQIYGAKGFSLSDVPQAEIS|dsp*

LH00995:48:23YTGFLT4:1:1121:46134:12084,LH00995:48:23YTGFLT4:1:1133:48909:3606,LH00995:48:23YTGFLT4:1:1134:39549:16231,LH00995:48:23YTGFLT4:1:1150:30520:11047,LH00995:48:23YTGFLT4:1:1220:45058:7810,LH00995:48:23YTGFLT4:1:1277:10360:22397,LH00995:48:23YTGFLT4:1:1323:26419:19076,LH00995:48:23YTGFLT4:1:1341:45616:12952,LH00995:48:23YTGFLT4:1:1391:14704:27735,LH00995:48:23YTGFLT4:1:1416:11347:3116,LH00995:48:23YTGFLT4:1:1436:35350:11061,LH00995:48:23YTGFLT4:1:1460:11719:14186,LH00995:48:23YTGFLT4:1:1462:2626:15727,LH00995:48:23YTGFLT4:1:1488:36653:8188,LH00995:48:23YTGFLT4:1:2115:20003:17913,LH00995:48:23YTGFLT4:1:2157:34169:13751,LH00995:48:23YTGFLT4:1:2170:26063:16105,LH00995:48:23YTGFLT4:1:2203:10473:5274,LH00995:48:23YTGFLT4:1:2218:28004:8455,LH00995:48:23YTGFLT4:1:2265:7059:7824,LH00995:48:23YTGFLT4:1:2445:8330:9716,LH00995:48:23YTGFLT4:1:2466:42866:28254,LH00995:48:23YTGFLT4:2:1130:28190:13597,LH00995:48:23YTGFLT4:2:1130:28199:13611,LH00995:48:23YTGFLT4:2:1172:45382:13331,LH00995:48:23YTGFLT4:2:1186:14211:7123,LH00995:48:23YTGFLT4:2:1192:7229:25101,LH00995:48:23YTGFLT4:2:1227:49597:13877,LH00995:48:23YTGFLT4:2:1269:52113:27119,LH00995:48:23YTGFLT4:2:1317:24566:8104,LH00995:48:23YTGFLT4:2:1424:7221:28814,LH00995:48:23YTGFLT4:2:1468:28377:18179,LH00995:48:23YTGFLT4:2:1492:12771:2695,LH00995:48:23YTGFLT4:2:1498:25448:1308,LH00995:48:23YTGFLT4:2:2117:12439:13415,LH00995:48:23YTGFLT4:2:2140:34088:16105,LH00995:48:23YTGFLT4:2:2152:27851:26685,LH00995:48:23YTGFLT4:2:2242:34816:8903,LH00995:48:23YTGFLT4:2:2258:51522:26657,LH00995:48:23YTGFLT4:2:2258:51530:26642,LH00995:48:23YTGFLT4:2:2294:30925:15587,LH00995:48:23YTGFLT4:2:2295:28708:22621,LH00995:48:23YTGFLT4:2:2336:22350:16512,LH00995:48:23YTGFLT4:2:2397:13556:15405,LH00995:48:23YTGFLT4:2:2409:30909:5554,LH00995:48:23YTGFLT4:2:2442:18798:6157,LH00995:48:23YTGFLT4:2:2488:28061:5050,LH00995:48:23YTGFLT4:2:2490:17180:15713,LH00995:48:23YTGFLT4:3:1111:37923:21626,LH00995:48:23YTGFLT4:3:1170:5919:8511,LH00995:48:23YTGFLT4:3:1218:1324:27287,LH00995:48:23YTGFLT4:3:1269:46603:24302,LH00995:48:23YTGFLT4:3:1311:1251:26040,LH00995:48:23YTGFLT4:3:1419:22010:13709,LH00995:48:23YTGFLT4:3:1440:51255:16890,LH00995:48:23YTGFLT4:3:1459:6550:21878,LH00995:48:23YTGFLT4:3:1481:44265:11789,LH00995:48:23YTGFLT4:3:1487:13790:27413,LH00995:48:23YTGFLT4:3:1487:13798:27427,LH00995:48:23YTGFLT4:3:1497:48043:2275,LH00995:48:23YTGFLT4:3:2121:51417:26558,LH00995:48:23YTGFLT4:3:2142:45123:27119,LH00995:48:23YTGFLT4:3:2234:50398:4587,LH00995:48:23YTGFLT4:3:2287:41895:6703,LH00995:48:23YTGFLT4:3:2422:32559:21416,LH00995:48:23YTGFLT4:3:2437:15861:9421,LH00995:48:23YTGFLT4:3:2474:44055:15881,LH00995:48:23YTGFLT4:4:1107:40722:5064,LH00995:48:23YTGFLT4:4:1141:8443:21850,LH00995:48:23YTGFLT4:4:1270:27398:5638,LH00995:48:23YTGFLT4:4:1273:26839:29277,LH00995:48:23YTGFLT4:4:1283:29008:10304,LH00995:48:23YTGFLT4:4:1314:38432:21416,LH00995:48:23YTGFLT4:4:1348:18717:26474,LH00995:48:23YTGFLT4:4:1357:50576:16834,LH00995:48:23YTGFLT4:4:1365:11307:26811,LH00995:48:23YTGFLT4:4:2113:1129:28296,LH00995:48:23YTGFLT4:4:2154:38052:15657,LH00995:48:23YTGFLT4:4:2177:24429:13387,LH00995:48:23YTGFLT4:4:2271:6720:10851,LH00995:48:23YTGFLT4:4:2357:32737:11495,LH00995:48:23YTGFLT4:4:2382:41410:2555,LH00995:48:23YTGFLT4:5:1121:3993:27876,LH00995:48:23YTGFLT4:5:1169:51296:18613,LH00995:48:23YTGFLT4:5:1184:27786:8973,LH00995:48:23YTGFLT4:5:1197:37866:16147,LH00995:48:23YTGFLT4:5:1323:33659:28562,LH00995:48:23YTGFLT4:5:1350:45301:20001,LH00995:48:23YTGFLT4:5:1412:51490:7908,LH00995:48:23YTGFLT4:5:2144:17156:9898,LH00995:48:23YTGFLT4:5:2276:20998:16189,LH00995:48:23YTGFLT4:5:2304:49184:13107,LH00995:48:23YTGFLT4:5:2345:24930:2485,LH00995:48:23YTGFLT4:5:2375:49872:2443,LH00995:48:23YTGFLT4:5:2473:9834:10052,LH00995:48:23YTGFLT4:5:2491:51182:15895,LH00995:48:23YTGFLT4:6:1110:12803:21248,LH00995:48:23YTGFLT4:6:1122:4867:20841,LH00995:48:23YTGFLT4:6:1172:20521:16175,LH00995:48:23YTGFLT4:6:1202:15578:17002,LH00995:48:23YTGFLT4:6:1252:46959:6030,LH00995:48:23YTGFLT4:6:1314:16776:16862,LH00995:48:23YTGFLT4:6:1328:17309:5736,LH00995:48:23YTGFLT4:6:1428:13693:17100,LH00995:48:23YTGFLT4:6:2111:7512:22481,LH00995:48:23YTGFLT4:6:2237:45268:15236,LH00995:48:23YTGFLT4:6:2257:39047:27357,LH00995:48:23YTGFLT4:6:2379:44548:19819,LH00995:48:23YTGFLT4:7:1110:43861:1140,LH00995:48:23YTGFLT4:7:1135:15433:2513,LH00995:48:23YTGFLT4:7:1136:44605:6016,LH00995:48:23YTGFLT4:7:1137:11145:6521,LH00995:48:23YTGFLT4:7:1142:1016:2401,LH00995:48:23YTGFLT4:7:1265:21929:12140,LH00995:48:23YTGFLT4:7:1267:17455:13275,LH00995:48:23YTGFLT4:7:1345:23167:7978,LH00995:48:23YTGFLT4:7:1349:13030:5050,LH00995:48:23YTGFLT4:7:1449:21994:27834,LH00995:48:23YTGFLT4:7:1461:27179:12070,LH00995:48:23YTGFLT4:7:1475:29946:6829,LH00995:48:23YTGFLT4:7:2150:51757:28941,LH00995:48:23YTGFLT4:7:2171:3662:22481,LH00995:48:23YTGFLT4:7:2320:45357:17577,LH00995:48:23YTGFLT4:7:2334:14268:18964,LH00995:48:23YTGFLT4:7:2348:11517:3410,LH00995:48:23YTGFLT4:8:1109:27090:16652,LH00995:48:23YTGFLT4:8:1127:22673:7712,LH00995:48:23YTGFLT4:8:1217:6687:16764,LH00995:48:23YTGFLT4:8:1230:10991:28926,LH00995:48:23YTGFLT4:8:1230:42801:10402,LH00995:48:23YTGFLT4:8:1264:49516:1883,LH00995:48:23YTGFLT4:8:1373:17601:10640,LH00995:48:23YTGFLT4:8:1373:17609:10654,LH00995:48:23YTGFLT4:8:1468:46061:6885,LH00995:48:23YTGFLT4:8:1471:21694:14928,LH00995:48:23YTGFLT4:8:1496:44629:24358,LH00995:48:23YTGFLT4:8:2218:18555:27315,LH00995:48:23YTGFLT4:8:2287:36208:29473,LH00995:48:23YTGFLT4:8:2468:37777:7362,LH00995:48:23YTGFLT4:8:2468:37793:7362,LH00995:48:23YTGFLT4:1:1197:50211:22705,LH00995:48:23YTGFLT4:1:1197:50220:22719,LH00995:48:23YTGFLT4:1:1263:16290:25437,LH00995:48:23YTGFLT4:1:1358:19405:20351,LH00995:48:23YTGFLT4:1:2134:5231:9590,LH00995:48:23YTGFLT4:1:2155:50567:17577,LH00995:48:23YTGFLT4:1:2160:41660:28548,LH00995:48:23YTGFLT4:1:2174:27964:14634,LH00995:48:23YTGFLT4:1:2247:40746:5834,LH00995:48:23YTGFLT4:1:2256:26006:23826,LH00995:48:23YTGFLT4:1:2269:5450:21038,LH00995:48:23YTGFLT4:1:2426:10263:10178,LH00995:48:23YTGFLT4:2:1166:39953:24499,LH00995:48:23YTGFLT4:2:1311:18337:16484,LH00995:48:23YTGFLT4:2:1368:40520:3508,LH00995:48:23YTGFLT4:2:1435:29315:19720,LH00995:48:23YTGFLT4:2:1479:8734:24344,LH00995:48:23YTGFLT4:2:2116:38165:29361,LH00995:48:23YTGFLT4:2:2327:47890:6493,LH00995:48:23YTGFLT4:2:2331:24073:28212,LH00995:48:23YTGFLT4:2:2419:49605:11341,LH00995:48:23YTGFLT4:3:1121:22406:24653,LH00995:48:23YTGFLT4:3:1156:5215:1182,LH00995:48:23YTGFLT4:3:1293:39719:14508,LH00995:48:23YTGFLT4:3:1304:29590:7362,LH00995:48:23YTGFLT4:3:2213:7318:17577,LH00995:48:23YTGFLT4:3:2319:18547:10122,LH00995:48:23YTGFLT4:3:2353:47857:20561,LH00995:48:23YTGFLT4:3:2394:3200:21234,LH00995:48:23YTGFLT4:3:2394:3209:21220,LH00995:48:23YTGFLT4:3:2397:47542:25003,LH00995:48:23YTGFLT4:4:1230:16727:10108,LH00995:48:23YTGFLT4:4:1469:1283:26376,LH00995:48:23YTGFLT4:4:2381:22463:8328,LH00995:48:23YTGFLT4:4:2431:20270:2822,LH00995:48:23YTGFLT4:4:2480:16921:27539,LH00995:48:23YTGFLT4:5:1150:36661:9267,LH00995:48:23YTGFLT4:5:1411:44662:21500,LH00995:48:23YTGFLT4:5:1437:28215:28240,LH00995:48:23YTGFLT4:5:1482:13418:3732,LH00995:48:23YTGFLT4:5:2483:48286:11355,LH00995:48:23YTGFLT4:6:1253:42340:1813,LH00995:48:23YTGFLT4:6:1255:41644:29277,LH00995:48:23YTGFLT4:6:1255:41660:29277,LH00995:48:23YTGFLT4:6:1349:28805:29487,LH00995:48:23YTGFLT4:6:2392:48852:13177,LH00995:48:23YTGFLT4:6:2407:23304:7796,LH00995:48:23YTGFLT4:6:2432:8152:11117,LH00995:48:23YTGFLT4:6:2476:11371:21486,LH00995:48:23YTGFLT4:7:1246:20505:21612,LH00995:48:23YTGFLT4:7:1266:15950:4923,LH00995:48:23YTGFLT4:7:1383:4107:14368,LH00995:48:23YTGFLT4:7:1394:42000:23896,LH00995:48:23YTGFLT4:7:1472:51328:12644,LH00995:48:23YTGFLT4:7:2103:10174:3494,LH00995:48:23YTGFLT4:7:2151:45730:14858,LH00995:48:23YTGFLT4:7:2155:31580:5120,LH00995:48:23YTGFLT4:7:2271:31030:19272,LH00995:48:23YTGFLT4:7:2346:36005:8889,LH00995:48:23YTGFLT4:7:2346:36014:8875,LH00995:48:23YTGFLT4:7:2351:7828:10108,LH00995:48:23YTGFLT4:7:2485:17172:2695,LH00995:48:23YTGFLT4:8:1223:12043:25564,LH00995:48:23YTGFLT4:8:1250:2764:6885,LH00995:48:23YTGFLT4:8:1321:51441:12700,LH00995:48:23YTGFLT4:8:2102:12609:5582,LH00995:48:23YTGFLT4:8:2365:44338:1490,LH00995:48:23YTGFLT4:8:2415:13855:17100

ING2

LINC02336

+/+

chr4:183505367

chr13:89817251

CDS/splice-site

exon/splice-site

translocation

625

high

out-of-frame

Inhibitor_of_growth_proteins_N-terminal_histone-binding(32%)|

ENSG00000168556.7

ENSG00000271395.2

ENST00000302327.4

ENST00000659314.1

downstream

upstream

duplicates(52)

ACTGTACTCGTCGGCCGCGCTCCTGACCGGGGAGCGGAGCCGGCTGCTCACCTGCTACGTGCAGGACTACCTTGAGTGCGTGGAGTCGCTGCCCCACGACATGCAGAGGAACGTGTCTGTGCTGCGAGAGCTGGACAACAAATATCAAG|CCATCCATGTAAGATGTGACTTGCTCCTCCTTCCCTTCCACCGTGATTGTGAGGCCTCCCTAGCCATGTGGAACT

LYSSAALLTGERSRLLTCYVQDYLECVESLPHDMQRNVSVLRELDNKYQ|aihvrcdllllpfhrdceaslamwn

LH00995:48:23YTGFLT4:1:1146:34824:27777,LH00995:48:23YTGFLT4:1:1255:46814:11523,LH00995:48:23YTGFLT4:1:1303:6768:12448,LH00995:48:23YTGFLT4:1:1405:5870:15881,LH00995:48:23YTGFLT4:1:2196:9252:9519,LH00995:48:23YTGFLT4:1:2247:46652:16287,LH00995:48:23YTGFLT4:1:2396:5700:11047,LH00995:48:23YTGFLT4:1:2420:37098:24373,LH00995:48:23YTGFLT4:1:2493:47671:19903,LH00995:48:23YTGFLT4:2:1407:40681:18669,LH00995:48:23YTGFLT4:2:1479:13459:20113,LH00995:48:23YTGFLT4:2:2140:34849:25073,LH00995:48:23YTGFLT4:2:2165:16055:7656,LH00995:48:23YTGFLT4:2:2165:16072:7656,LH00995:48:23YTGFLT4:2:2185:16646:27735,LH00995:48:23YTGFLT4:2:2187:41725:9211,LH00995:48:23YTGFLT4:2:2311:50851:2794,LH00995:48:23YTGFLT4:2:2311:50859:2780,LH00995:48:23YTGFLT4:2:2397:28571:8791,LH00995:48:23YTGFLT4:2:2428:28773:1659,LH00995:48:23YTGFLT4:2:2482:34104:13247,LH00995:48:23YTGFLT4:3:1132:41507:20575,LH00995:48:23YTGFLT4:3:1155:5692:27203,LH00995:48:23YTGFLT4:3:1202:22592:26825,LH00995:48:23YTGFLT4:3:1236:21152:7263,LH00995:48:23YTGFLT4:3:1317:24145:26600,LH00995:48:23YTGFLT4:3:1359:16541:14746,LH00995:48:23YTGFLT4:3:1416:21848:5330,LH00995:48:23YTGFLT4:3:2202:33077:17016,LH00995:48:23YTGFLT4:3:2282:38457:28184,LH00995:48:23YTGFLT4:3:2414:21298:5050,LH00995:48:23YTGFLT4:4:1281:20173:4559,LH00995:48:23YTGFLT4:4:1421:7334:15783,LH00995:48:23YTGFLT4:4:2162:32203:11187,LH00995:48:23YTGFLT4:4:2404:25602:10514,LH00995:48:23YTGFLT4:4:2412:12965:2499,LH00995:48:23YTGFLT4:4:2412:12981:2499,LH00995:48:23YTGFLT4:4:2417:40754:6661,LH00995:48:23YTGFLT4:4:2451:16282:6591,LH00995:48:23YTGFLT4:4:2466:43319:23714,LH00995:48:23YTGFLT4:5:1201:24866:13583,LH00995:48:23YTGFLT4:5:1271:31952:5400,LH00995:48:23YTGFLT4:5:1494:44500:10066,LH00995:48:23YTGFLT4:6:1256:29097:20631,LH00995:48:23YTGFLT4:6:1302:5166:23153,LH00995:48:23YTGFLT4:6:1302:5174:23167,LH00995:48:23YTGFLT4:6:1367:3508:12070,LH00995:48:23YTGFLT4:6:1373:34824:5106,LH00995:48:23YTGFLT4:6:2133:50058:27231,LH00995:48:23YTGFLT4:6:2134:34582:15811,LH00995:48:23YTGFLT4:6:2156:50398:24288,LH00995:48:23YTGFLT4:6:2304:4729:20323,LH00995:48:23YTGFLT4:6:2365:27301:20491,LH00995:48:23YTGFLT4:7:1247:49669:29361,LH00995:48:23YTGFLT4:7:1251:47801:28730,LH00995:48:23YTGFLT4:7:1260:12779:13359,LH00995:48:23YTGFLT4:7:1344:44459:7782,LH00995:48:23YTGFLT4:7:1344:44468:7796,LH00995:48:23YTGFLT4:7:1344:50923:2051,LH00995:48:23YTGFLT4:7:2423:23531:22313,LH00995:48:23YTGFLT4:8:1108:51174:14928,LH00995:48:23YTGFLT4:8:1108:51190:14928,LH00995:48:23YTGFLT4:8:1132:1429:5694,LH00995:48:23YTGFLT4:8:1137:37640:29291,LH00995:48:23YTGFLT4:8:1255:2262:3718,LH00995:48:23YTGFLT4:8:1258:46773:21822,LH00995:48:23YTGFLT4:8:1287:5579:25998,LH00995:48:23YTGFLT4:8:1335:37656:5302,LH00995:48:23YTGFLT4:8:1422:42817:15503,LH00995:48:23YTGFLT4:8:2155:5021:10598,LH00995:48:23YTGFLT4:8:2172:26451:5652,LH00995:48:23YTGFLT4:8:2338:43343:5960,LH00995:48:23YTGFLT4:8:2422:37276:19216,LH00995:48:23YTGFLT4:8:2483:24922:25620,LH00995:48:23YTGFLT4:1:2393:49880:13891,LH00995:48:23YTGFLT4:3:2207:47364:26152,LH00995:48:23YTGFLT4:4:2455:40762:19174,LH00995:48:23YTGFLT4:7:1170:41523:27245

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

498

164

high

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(54),mismappers(1),mismatches(1)

CCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGA

PASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1174:20885:3522,LH00995:48:23YTGFLT4:1:1190:24461:14816,LH00995:48:23YTGFLT4:1:1340:28919:12392,LH00995:48:23YTGFLT4:1:1483:17253:29095,LH00995:48:23YTGFLT4:1:1483:17261:29081,LH00995:48:23YTGFLT4:1:2301:35795:8469,LH00995:48:23YTGFLT4:1:2343:23838:8076,LH00995:48:23YTGFLT4:1:2455:39209:29459,LH00995:48:23YTGFLT4:1:2465:6250:3088,LH00995:48:23YTGFLT4:1:2483:26759:3270,LH00995:48:23YTGFLT4:2:2196:1210:27427,LH00995:48:23YTGFLT4:2:2201:3354:13233,LH00995:48:23YTGFLT4:2:2335:47121:26685,LH00995:48:23YTGFLT4:2:2380:37178:7278,LH00995:48:23YTGFLT4:2:2434:13022:14676,LH00995:48:23YTGFLT4:2:2480:13224:2752,LH00995:48:23YTGFLT4:3:1157:40754:5848,LH00995:48:23YTGFLT4:3:1191:20513:18459,LH00995:48:23YTGFLT4:3:1379:17156:12196,LH00995:48:23YTGFLT4:3:1379:17172:12196,LH00995:48:23YTGFLT4:3:1381:51490:14494,LH00995:48:23YTGFLT4:3:1457:41183:13065,LH00995:48:23YTGFLT4:3:2374:16897:22537,LH00995:48:23YTGFLT4:3:2458:36175:20365,LH00995:48:23YTGFLT4:4:1172:5272:21374,LH00995:48:23YTGFLT4:4:1172:5280:21360,LH00995:48:23YTGFLT4:4:1279:10862:27946,LH00995:48:23YTGFLT4:4:1354:40358:8272,LH00995:48:23YTGFLT4:4:2440:13046:22621,LH00995:48:23YTGFLT4:5:1292:30140:3130,LH00995:48:23YTGFLT4:5:1401:9705:23448,LH00995:48:23YTGFLT4:5:2297:49200:26530,LH00995:48:23YTGFLT4:5:2431:41442:15166,LH00995:48:23YTGFLT4:6:1261:16136:14746,LH00995:48:23YTGFLT4:6:2290:14955:10122,LH00995:48:23YTGFLT4:7:1419:8734:9183,LH00995:48:23YTGFLT4:7:1419:8742:9197,LH00995:48:23YTGFLT4:7:1463:25319:1560,LH00995:48:23YTGFLT4:7:1471:28409:1420,LH00995:48:23YTGFLT4:7:2422:28029:26460,LH00995:48:23YTGFLT4:7:2449:22382:27077,LH00995:48:23YTGFLT4:7:2486:18806:16063,LH00995:48:23YTGFLT4:8:1391:48326:16694,LH00995:48:23YTGFLT4:8:1430:31815:24415,LH00995:48:23YTGFLT4:8:2239:16120:25760,LH00995:48:23YTGFLT4:8:2401:39161:9421,LH00995:48:23YTGFLT4:8:2444:42388:9660,LH00995:48:23YTGFLT4:1:2259:11533:11313,LH00995:48:23YTGFLT4:1:2359:6631:13695,LH00995:48:23YTGFLT4:2:2326:26103:11271,LH00995:48:23YTGFLT4:2:2335:37890:19552,LH00995:48:23YTGFLT4:4:1298:41102:4377,LH00995:48:23YTGFLT4:4:1455:38651:17338,LH00995:48:23YTGFLT4:4:2113:13976:25858,LH00995:48:23YTGFLT4:4:2127:35504:6563,LH00995:48:23YTGFLT4:4:2486:6501:13079,LH00995:48:23YTGFLT4:4:2489:41377:13569,LH00995:48:23YTGFLT4:4:2492:26022:21472,LH00995:48:23YTGFLT4:4:2492:26030:21458,LH00995:48:23YTGFLT4:5:1268:42130:7446,LH00995:48:23YTGFLT4:5:1485:20772:21598,LH00995:48:23YTGFLT4:5:1493:22552:14844,LH00995:48:23YTGFLT4:6:1452:49880:28072,LH00995:48:23YTGFLT4:6:2233:10611:2317,LH00995:48:23YTGFLT4:6:2445:27446:2303,LH00995:48:23YTGFLT4:6:2454:11088:3256,LH00995:48:23YTGFLT4:7:1413:45228:2976,LH00995:48:23YTGFLT4:7:2211:45010:5232,LH00995:48:23YTGFLT4:7:2351:9859:3929,LH00995:48:23YTGFLT4:8:2109:18563:2219,LH00995:48:23YTGFLT4:8:2146:4584:9954,LH00995:48:23YTGFLT4:8:2156:34614:5022,LH00995:48:23YTGFLT4:8:2221:21710:14452,LH00995:48:23YTGFLT4:8:2237:4495:14172,LH00995:48:23YTGFLT4:8:2494:15619:1322

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

1156

510

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(5)

GGTGCGCAGtAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAG

VRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:1152:28223:14802,LH00995:48:23YTGFLT4:1:1302:35658:1476,LH00995:48:23YTGFLT4:1:2288:13588:6185,LH00995:48:23YTGFLT4:2:1161:15069:12756,LH00995:48:23YTGFLT4:2:1266:39808:27385,LH00995:48:23YTGFLT4:2:2233:6760:10248,LH00995:48:23YTGFLT4:3:1229:30132:24078,LH00995:48:23YTGFLT4:5:1419:35294:27806,LH00995:48:23YTGFLT4:6:1473:14033:16904,LH00995:48:23YTGFLT4:6:2348:13871:20743

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

164

low

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

duplicates(3)

GAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAA

LH00995:48:23YTGFLT4:2:1250:47170:29291,LH00995:48:23YTGFLT4:3:1348:41976:22593,LH00995:48:23YTGFLT4:5:2328:7755:17100,LH00995:48:23YTGFLT4:6:1172:32956:14704,LH00995:48:23YTGFLT4:8:1414:4729:26853,LH00995:48:23YTGFLT4:8:2454:11290:16750,LH00995:48:23YTGFLT4:6:2194:31451:29305

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

401

510

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(2)

AATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCC

SRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldf

LH00995:48:23YTGFLT4:1:2406:22479:10262,LH00995:48:23YTGFLT4:2:1491:2100:1420,LH00995:48:23YTGFLT4:6:2444:18709:14101

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

401

164

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(3)

CCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAG

CSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:2:1369:7504:22383,LH00995:48:23YTGFLT4:6:2129:24340:20211,LH00995:48:23YTGFLT4:7:1498:50867:8342,LH00995:48:23YTGFLT4:7:2332:27406:3438

DIDO1

LINC01749

-/-

+/-

chr20:62907147

chr20:63082911

CDS/splice-site

exon

duplication/5'-5'

2037

high

out-of-frame

PHD-finger(100%)|

ENSG00000101191.17

ENSG00000272259.5

ENST00000266070.8

upstream

downstream

duplicates(17),mismatches(1)

AGCGACAATGAAGTTTCTAAGCTCAGGTAAAGAACAGAAGCCAAAGCCTAAAGAAAAGATGAAGATGAAGCCAGAGAAGCCCAGTCTTCCGAAATGCGGTGCTCAG|GCACCCCAAATGTAAGCCCTGGTGGAGACAAGGACTTGGACGAAG___GCCCAGGCCTTAAGGAACTGGCACT

ATMKFLSSGKEQKPKPKEKMKMKPEKPSLPKCGAQ|apqm*

LH00995:48:23YTGFLT4:1:1338:21055:5246,LH00995:48:23YTGFLT4:1:2245:44783:21290,LH00995:48:23YTGFLT4:2:1413:13774:8413,LH00995:48:23YTGFLT4:3:1357:29080:1939,LH00995:48:23YTGFLT4:3:1370:10295:4965,LH00995:48:23YTGFLT4:3:1410:3322:12140,LH00995:48:23YTGFLT4:4:2125:50648:20547,LH00995:48:23YTGFLT4:4:2215:18402:19482,LH00995:48:23YTGFLT4:4:2237:49839:18445,LH00995:48:23YTGFLT4:5:1404:10481:16133,LH00995:48:23YTGFLT4:5:2267:42736:22593,LH00995:48:23YTGFLT4:5:2355:5320:11509,LH00995:48:23YTGFLT4:6:1113:48496:24555,LH00995:48:23YTGFLT4:6:1113:48504:24569,LH00995:48:23YTGFLT4:6:1346:47663:5372,LH00995:48:23YTGFLT4:6:1491:30917:18712,LH00995:48:23YTGFLT4:6:2416:5344:24695,LH00995:48:23YTGFLT4:6:2443:44403:1603,LH00995:48:23YTGFLT4:7:1118:32616:21878,LH00995:48:23YTGFLT4:7:1142:46199:26488,LH00995:48:23YTGFLT4:7:1302:4608:15909,LH00995:48:23YTGFLT4:8:1363:29889:25536,LH00995:48:23YTGFLT4:8:1464:36944:24218,LH00995:48:23YTGFLT4:8:2170:2513:5246,LH00995:48:23YTGFLT4:8:2188:30706:2205,LH00995:48:23YTGFLT4:8:2193:27584:24092,LH00995:48:23YTGFLT4:8:2221:34056:4671,LH00995:48:23YTGFLT4:8:2222:42219:12700,LH00995:48:23YTGFLT4:8:2412:2804:25423,LH00995:48:23YTGFLT4:8:2474:23442:14788,LH00995:48:23YTGFLT4:8:2485:26039:3312,LH00995:48:23YTGFLT4:2:1365:8524:24625,LH00995:48:23YTGFLT4:5:1363:11169:28618,LH00995:48:23YTGFLT4:5:2459:31321:25746

NPEPPS

ASIC2

+/+

-/-

chr17:47545993

chr17:33641828

CDS/splice-site

intron

inversion

1629

high

out-of-frame

Peptidase_M1_N-terminal_domain(29%)|Amiloride-sensitive_sodium_channel(72%)

ENSG00000141279.17

ENSG00000108684.15

ENST00000530173.6

downstream

duplicates(12),mismatches(4)

GCCTCAAGCCCGACTTGCTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCCCAG___GTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAG|TCCCTTTTGTACAGACCACGCAATTGGTGCTAATGGCATCCCTGCCTGACTTTAAACTGTCCTGCCACAGAGAACCCT

LKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDIITASYAPEGDE|vpfvqttqlvlmaslpdfklschrep

LH00995:48:23YTGFLT4:4:1267:7682:11986,LH00995:48:23YTGFLT4:5:2214:8912:14396,LH00995:48:23YTGFLT4:5:2254:40067:6479,LH00995:48:23YTGFLT4:2:1261:8499:7656,LH00995:48:23YTGFLT4:2:1283:1113:26446,LH00995:48:23YTGFLT4:2:1283:1121:26460,LH00995:48:23YTGFLT4:2:1369:36353:6213,LH00995:48:23YTGFLT4:2:1377:41458:26853,LH00995:48:23YTGFLT4:2:1492:16598:7221,LH00995:48:23YTGFLT4:2:2176:10918:6717,LH00995:48:23YTGFLT4:3:2150:34881:29417,LH00995:48:23YTGFLT4:3:2175:23361:22215,LH00995:48:23YTGFLT4:4:2390:51328:7123,LH00995:48:23YTGFLT4:4:2459:44023:7025,LH00995:48:23YTGFLT4:6:1476:3492:11761,LH00995:48:23YTGFLT4:7:1244:2100:23924,LH00995:48:23YTGFLT4:7:1244:2108:23910,LH00995:48:23YTGFLT4:7:2212:24129:9870,LH00995:48:23YTGFLT4:7:2369:13289:24022,LH00995:48:23YTGFLT4:8:1238:6428:15531,LH00995:48:23YTGFLT4:8:1382:8694:6339,LH00995:48:23YTGFLT4:8:1421:9058:8567,LH00995:48:23YTGFLT4:8:1485:8831:2738

SHLD2

PANK1

+/+

-/+

chr10:87170974

chr10:89587575

CDS/splice-site

intron

deletion/5'-5'

462

high

out-of-frame

Protein_family_FAM35__C-terminal(1%)|

ENSG00000122376.12

ENSG00000152782.16

ENST00000298784.5

downstream

upstream

duplicates(43),mismatches(6)

GGCAGTATACAGTTATAGAGGACAGAAGCAGAAAAAAGTTATGTTAACAGTGGAACAGGCCCAAGATCAACATTATGCGCTTGTATTATGGGGTCCTGGAGCAGCCTGGTACCCTCAACTTCAAAGGAAAAAAG|AAACAAACTGGAAATCAAAGGAGGTGCATAATATTGTAGATTATGAAAGAAAGATAACTACAGGACTC

AVYSYRGQKQKKVMLTVEQAQDQHYALVLWGPGAAWYPQLQRKK|etnwkskevhnivdyerkittg

LH00995:48:23YTGFLT4:1:1135:26815:15082,LH00995:48:23YTGFLT4:1:1253:4924:17072,LH00995:48:23YTGFLT4:1:1253:4932:17086,LH00995:48:23YTGFLT4:1:1303:44346:7053,LH00995:48:23YTGFLT4:1:1310:7278:27567,LH00995:48:23YTGFLT4:1:1439:13200:2373,LH00995:48:23YTGFLT4:1:1480:23223:29375,LH00995:48:23YTGFLT4:1:1480:23231:29361,LH00995:48:23YTGFLT4:1:1497:46854:29445,LH00995:48:23YTGFLT4:1:2236:26799:29347,LH00995:48:23YTGFLT4:1:2346:16978:6255,LH00995:48:23YTGFLT4:1:2447:18830:13863,LH00995:48:23YTGFLT4:2:1181:50066:10290,LH00995:48:23YTGFLT4:2:1226:8580:26713,LH00995:48:23YTGFLT4:2:1490:5296:9870,LH00995:48:23YTGFLT4:2:2188:47412:16315,LH00995:48:23YTGFLT4:2:2276:22358:9716,LH00995:48:23YTGFLT4:2:2464:14939:21164,LH00995:48:23YTGFLT4:3:1339:11404:24008,LH00995:48:23YTGFLT4:3:1347:38489:29333,LH00995:48:23YTGFLT4:3:1396:40050:15391,LH00995:48:23YTGFLT4:3:2176:16242:13079,LH00995:48:23YTGFLT4:3:2293:10134:18445,LH00995:48:23YTGFLT4:3:2403:22940:16021,LH00995:48:23YTGFLT4:3:2481:5174:17310,LH00995:48:23YTGFLT4:4:1311:3217:28352,LH00995:48:23YTGFLT4:4:1494:23070:17871,LH00995:48:23YTGFLT4:4:2105:11655:22873,LH00995:48:23YTGFLT4:4:2164:3128:26012,LH00995:48:23YTGFLT4:4:2191:23514:21192,LH00995:48:23YTGFLT4:5:1177:31289:25465,LH00995:48:23YTGFLT4:5:1245:1793:22551,LH00995:48:23YTGFLT4:5:2229:31548:12714,LH00995:48:23YTGFLT4:6:1222:24145:26572,LH00995:48:23YTGFLT4:6:1222:24154:26558,LH00995:48:23YTGFLT4:6:1277:20821:15321,LH00995:48:23YTGFLT4:6:2126:39371:1490,LH00995:48:23YTGFLT4:6:2272:51862:4881,LH00995:48:23YTGFLT4:7:1266:38174:17885,LH00995:48:23YTGFLT4:7:1303:12464:2079,LH00995:48:23YTGFLT4:7:1331:1453:19720,LH00995:48:23YTGFLT4:7:1416:45657:7362,LH00995:48:23YTGFLT4:7:2275:2505:7866,LH00995:48:23YTGFLT4:7:2324:22552:20281,LH00995:48:23YTGFLT4:7:2369:35043:28632,LH00995:48:23YTGFLT4:7:2388:12253:18277,LH00995:48:23YTGFLT4:7:2401:38869:17605,LH00995:48:23YTGFLT4:7:2470:48990:25437,LH00995:48:23YTGFLT4:8:1257:34994:8903,LH00995:48:23YTGFLT4:8:1425:8305:20519,LH00995:48:23YTGFLT4:8:1426:13103:21682,LH00995:48:23YTGFLT4:8:2477:33344:24288,LH00995:48:23YTGFLT4:1:2480:22180:21570,LH00995:48:23YTGFLT4:2:1494:11841:10697

KCNQ5

AL357507.1

+/+

chr6:72622587

chr6:74347075

CDS/splice-site

exon/splice-site

deletion

304

high

out-of-frame

Ion_transport_protein(2%)|

ENSG00000185760.17

ENSG00000223786.1

ENST00000342056.6

ENST00000435946.1

downstream

upstream

duplicates(3)

AGAGCTGCCGGCGCAACGTCAAGTACCGGCGGGTG?AGAACTACCTGTACAACGTGCTGGAGAGACCCCGCGGCTGGGCGTTCATCTACCACGCTTTCGT|AGAACTTCCCTTCATGATGCTATGCAATCCCCAGGAGAAGCACGTTGAAAGCTGA___AAAGAAGACTGACTGAGATGTGTTGGC

SCRRNVKYRRV?NYLYNVLERPRGWAFIYHAFv|elpfmmlcnpqekhves*

LH00995:48:23YTGFLT4:3:1221:15109:29305,LH00995:48:23YTGFLT4:3:2290:7383:15054,LH00995:48:23YTGFLT4:6:1326:1890:23308,LH00995:48:23YTGFLT4:7:1416:38983:16904,LH00995:48:23YTGFLT4:1:2192:38133:23812,LH00995:48:23YTGFLT4:4:2266:11274:9211,LH00995:48:23YTGFLT4:8:2333:31192:7165

ARID1B

+/+

chr6:156779279

chr6:156779277

CDS

duplication/ITD

1706

2713

medium

in-frame

|ARID/BRIGHT_DNA_binding_domain(100%),SWI/SNF-like_complex_subunit_BAF250/Osa_(100%)

ENSG00000049618.24

ENST00000346085.10

downstream

upstream

duplicates(268),mismappers(7)

ACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCG|CCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAG

TPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP|PSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQ

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LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

1250

1486

medium

in-frame

|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(369),mismappers(2)

GTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCCC

VKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPP

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7,LH00995:48:23YTGFLT4:8:1229:15554:7908,LH00995:48:23YTGFLT4:8:1236:1922:4951,LH00995:48:23YTGFLT4:8:1257:33101:19608,LH00995:48:23YTGFLT4:8:1285:41482:3438,LH00995:48:23YTGFLT4:8:1285:5361:3256,LH00995:48:23YTGFLT4:8:1330:8475:20673,LH00995:48:23YTGFLT4:8:1367:20359:28646,LH00995:48:23YTGFLT4:8:1369:6259:3242,LH00995:48:23YTGFLT4:8:1391:33635:23223,LH00995:48:23YTGFLT4:8:1412:49427:13807,LH00995:48:23YTGFLT4:8:1435:31362:17745,LH00995:48:23YTGFLT4:8:1449:30148:15727,LH00995:48:23YTGFLT4:8:1487:11816:18866,LH00995:48:23YTGFLT4:8:2114:51789:26474,LH00995:48:23YTGFLT4:8:2116:16986:16049,LH00995:48:23YTGFLT4:8:2125:19105:2177,LH00995:48:23YTGFLT4:8:2172:28417:4181,LH00995:48:23YTGFLT4:8:2190:11816:28282,LH00995:48:23YTGFLT4:8:2219:21144:6437,LH00995:48:23YTGFLT4:8:2273:13224:25984,LH00995:48:23YTGFLT4:8:2334:12803:4629,LH00995:48:23YTGFLT4:8:2341:13523:5680,LH00995:48:23YTGFLT4:8:2353:45333:19552,LH00995:48:23YTGFLT4:8:2353:45341:19566,LH00995:48:23YTGFLT4:8:2409:2108:7880,LH00995:48:23YTGFLT4:8:2415:49500:21500,LH00995:48:23YTGFLT4:8:1218:5571:21696,LH00995:48:23YTGFLT4:1:1105:6250:28030,LH00995:48:23YTGFLT4:1:1125:45883:1673,LH00995:48:23YTGFLT4:1:1236:27422:21402,LH00995:48:23YTGFLT4:1:1277:11363:10991,LH00995:48:23YTGFLT4:1:1285:18612:7768,LH00995:48:23YTGFLT4:1:1443:37445:20827,LH00995:48:23YTGFLT4:1:1482:32624:1294,LH00995:48:23YTGFLT4:1:1486:27301:14886,LH00995:48:23YTGFLT4:1:2203:46878:23406,LH00995:48:23YTGFLT4:1:2233:1518:20813,LH00995:48:23YTGFLT4:1:2314:11905:3214,LH00995:48:23YTGFLT4:1:2315:32664:7614,LH00995:48:23YTGFLT4:1:2334:36523:10654,LH00995:48:23YTGFLT4:1:2470:18952:24078,LH00995:48:23YTGFLT4:2:1111:30836:8959,LH00995:48:23YTGFLT4:2:1131:3718:10725,LH00995:48:23YTGFLT4:2:1134:37470:10837,LH00995:48:23YTGFLT4:2:1171:8313:23280,LH00995:48:23YTGFLT4:2:1183:5668:10150,LH00995:48:23YTGFLT4:2:1195:23150:7642,LH00995:48:23YTGFLT4:2:1212:38813:15797,LH00995:48:23YTGFLT4:2:1232:22714:29081,LH00995:48:23YTGFLT4:2:1424:4268:5652,LH00995:48:23YTGFLT4:2:1424:4285:5652,LH00995:48:23YTGFLT4:2:2116:38780:18319,LH00995:48:23YTGFLT4:2:2134:36782:13177,LH00995:48:23YTGFLT4:2:2198:47331:6507,LH00995:48:23YTGFLT4:2:2216:26750:18922,LH00995:48:23YTGFLT4:2:2230:17625:16512,LH00995:48:23YTGFLT4:2:2276:23442:2317,LH00995:48:23YTGFLT4:2:2303:30520:22873,LH00995:48:23YTGFLT4:2:2346:10473:23097,LH00995:48:23YTGFLT4:2:2467:3265:12462,LH00995:48:23YTGFLT4:3:1131:48958:17843,LH00995:48:23YTGFLT4:3:1147:42130:10893,LH00995:48:23YTGFLT4:3:1212:9300:29361,LH00995:48:23YTGFLT4:3:1213:48068:21150,LH00995:48:23YTGFLT4:3:1253:30739:25101,LH00995:48:23YTGFLT4:3:1303:42219:28030,LH00995:48:23YTGFLT4:3:1323:34760:28674,LH00995:48:23YTGFLT4:3:1330:15635:17324,LH00995:48:23YTGFLT4:3:1330:15651:17324,LH00995:48:23YTGFLT4:3:1396:47793:24905,LH00995:48:23YTGFLT4:3:1418:51506:15138,LH00995:48:23YTGFLT4:3:1446:35569:9898,LH00995:48:23YTGFLT4:3:2114:47712:25465,LH00995:48:23YTGFLT4:3:2127:37850:20491,LH00995:48:23YTGFLT4:3:2261:38732:29165,LH00995:48:23YTGFLT4:3:2268:40115:12840,LH00995:48:23YTGFLT4:3:2277:46053:19286,LH00995:48:23YTGFLT4:3:2295:39136:22187,LH00995:48:23YTGFLT4:3:2306:27503:2513,LH00995:48:23YTGFLT4:3:2335:6517:18011,LH00995:48:23YTGFLT4:3:2338:19866:12462,LH00995:48:23YTGFLT4:3:2347:28296:15489,LH00995:48:23YTGFLT4:3:2351:2327:22355,LH00995:48:23YTGFLT4:4:1102:25909:15110,LH00995:48:23YTGFLT4:4:1150:21484:29669,LH00995:48:23YTGFLT4:4:1191:27535:11313,LH00995:48:23YTGFLT4:4:1265:2642:16484,LH00995:48:23YTGFLT4:4:1276:32858:24905,LH00995:48:23YTGFLT4:4:1291:9713:5134,LH00995:48:23YTGFLT4:4:1313:50551:5302,LH00995:48:23YTGFLT4:4:1316:9001:14886,LH00995:48:23YTGFLT4:4:1354:21403:25353,LH00995:48:23YTGFLT4:4:1460:14154:21570,LH00995:48:23YTGFLT4:4:1472:38376:2513,LH00995:48:23YTGFLT4:4:1491:41159:11145,LH00995:48:23YTGFLT4:4:1494:13095:14606,LH00995:48:23YTGFLT4:4:2117:26888:8230,LH00995:48:23YTGFLT4:4:2138:17042:22369,LH00995:48:23YTGFLT4:4:2157:31928:4994,LH00995:48:23YTGFLT4:4:2161:15198:10851,LH00995:48:23YTGFLT4:4:2176:7399:4629,LH00995:48:23YTGFLT4:4:2188:6372:17927,LH00995:48:23YTGFLT4:4:2191:14235:22607,LH00995:48:23YTGFLT4:4:2259:1793:22383,LH00995:48:23YTGFLT4:4:2271:42421:12770,LH00995:48:23YTGFLT4:4:2337:14704:8258,LH00995:48:23YTGFLT4:4:2396:28360:15293,LH00995:48:23YTGFLT4:4:2445:12674:4853,LH00995:48:23YTGFLT4:4:2464:29485:4433,LH00995:48:23YTGFLT4:5:1129:43044:20407,LH00995:48:23YTGFLT4:5:1148:50826:1154,LH00995:48:23YTGFLT4:5:1195:1121:6927,LH00995:48:23YTGFLT4:5:1223:22916:22257,LH00995:48:23YTGFLT4:5:1236:5644:18627,LH00995:48:23YTGFLT4:5:1245:42615:21402,LH00995:48:23YTGFLT4:5:1311:51935:3018,LH00995:48:23YTGFLT4:5:1342:44557:21122,LH00995:48:23YTGFLT4:5:1382:35730:24807,LH00995:48:23YTGFLT4:5:1445:7270:18922,LH00995:48:23YTGFLT4:5:2237:42680:15124,LH00995:48:23YTGFLT4:5:2294:4301:10977,LH00995:48:23YTGFLT4:5:2353:26079:15797,LH00995:48:23YTGFLT4:5:2370:12658:2611,LH00995:48:23YTGFLT4:5:2448:31896:23434,LH00995:48:23YTGFLT4:6:1209:35536:8749,LH00995:48:23YTGFLT4:6:1209:35552:8749,LH00995:48:23YTGFLT4:6:1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DIDO1

LINC01749(2741),HAR1B(2994)

-/-

./-

chr20:62906012

chr20:63087812

CDS

intergenic

duplication

3198

medium

out-of-frame

PHD-finger(100%)|

ENSG00000101191.17

ENST00000266070.8

upstream

downstream

duplicates(149)

GCGGTGCTCAG___...TTTACTGATTATCCAGGCAGGTATTAAAATCTCTTCTGTGCACAAGAGACCAGCTCCAGAAAAAAAAGAGACCACAGTGAAGAAGGCAGTGGTGGTCCCTGCGCG|CGTGTCATGCATGGGCCTGGAACCACACAAAGGTGGGAGGGGGTTGGGGCTGTACCAGGCTGAGGAATGAGCACGGACGGTGAAGGAGCA

lliiqAGIKISSVHKRPAPEKKETTVKKAVVVPAr|vscmglephkggrglglyqaee*

LH00995:48:23YTGFLT4:1:1113:27317:18193,LH00995:48:23YTGFLT4:1:1115:32867:22060,LH00995:48:23YTGFLT4:1:1130:27851:5750,LH00995:48:23YTGFLT4:1:1130:27859:5764,LH00995:48:23YTGFLT4:1:1139:37850:5358,LH00995:48:23YTGFLT4:1:1166:27090:9309,LH00995:48:23YTGFLT4:1:1170:47639:9702,LH00995:48:23YTGFLT4:1:1181:20448:11705,LH00995:48:23YTGFLT4:1:1195:23377:3578,LH00995:48:23YTGFLT4:1:1203:40002:18698,LH00995:48:23YTGFLT4:1:1217:8758:15138,LH00995:48:23YTGFLT4:1:1295:23272:15110,LH00995:48:23YTGFLT4:1:1334:6428:8160,LH00995:48:23YTGFLT4:1:1356:19542:18599,LH00995:48:23YTGFLT4:1:1359:11986:4783,LH00995:48:23YTGFLT4:1:1367:2302:3985,LH00995:48:23YTGFLT4:1:1432:21096:4755,LH00995:48:23YTGFLT4:1:1439:39330:7586,LH00995:48:23YTGFLT4:1:1455:9818:15461,LH00995:48:23YTGFLT4:1:1455:9826:15475,LH00995:48:23YTGFLT4:1:1498:46563:12995,LH00995:48:23YTGFLT4:1:1498:46579:12995,LH00995:48:23YTGFLT4:1:2233:27640:17549,LH00995:48:23YTGFLT4:1:2242:31693:21122,LH00995:48:23YTGFLT4:1:2269:25925:16063,LH00995:48:23YTGFLT4:1:2276:19235:14368,LH00995:48:23YTGFLT4:1:2316:9632:18361,LH00995:48:23YTGFLT4:1:2319:26144:27203,LH00995:48:23YTGFLT4:1:2341:13167:10584,LH00995:48:23YTGFLT4:1:2351:26241:28688,LH00995:48:23YTGFLT4:1:2362:36183:17829,LH00995:48:23YTGFLT4:1:2459:38408:17675,LH00995:48:23YTGFLT4:2:1192:26977:15447,LH00995:48:23YTGFLT4:2:1203:8313:26110,LH00995:48:23YTGFLT4:2:1205:16193:4419,LH00995:48:23YTGFLT4:2:1208:27576:20127,LH00995:48:23YTGFLT4:2:1225:16808:4923,LH00995:48:23YTGFLT4:2:1251:41458:20911,LH00995:48:23YTGFLT4:2:1268:18224:12000,LH00995:48:23YTGFLT4:2:1454:33667:13863,LH00995:48:23YTGFLT4:2:2122:26111:13695,LH00995:48:23YTGFLT4:2:2180:36992:20547,LH00995:48:23YTGFLT4:2:2291:36984:3522,LH00995:48:23YTGFLT4:2:2316:13151:13023,LH00995:48:23YTGFLT4:2:2324:2553:19020,LH00995:48:23YTGFLT4:2:2325:49831:26895,LH00995:48:23YTGFLT4:2:2392:33150:20029,LH00995:48:23YTGFLT4:3:1368:27632:11453,LH00995:48:23YTGFLT4:3:1407:45624:22074,LH00995:48:23YTGFLT4:3:1474:35383:13219,LH00995:48:23YTGFLT4:3:2137:28878:23840,LH00995:48:23YTGFLT4:3:2207:9600:11383,LH00995:48:23YTGFLT4:3:2292:1502:12742,LH00995:48:23YTGFLT4:3:2348:42914:21108,LH00995:48:23YTGFLT4:3:2386:14260:10262,LH00995:48:23YTGFLT4:3:2411:27487:27091,LH00995:48:23YTGFLT4:3:2413:4058:7530,LH00995:48:23YTGFLT4:3:2429:14373:22621,LH00995:48:23YTGFLT4:4:1113:26386:22999,LH00995:48:23YTGFLT4:4:1119:50487:20575,LH00995:48:23YTGFLT4:4:1129:36297:18137,LH00995:48:23YTGFLT4:4:1155:33732:2373,LH00995:48:23YTGFLT4:4:1158:25747:25872,LH00995:48:23YTGFLT4:4:1208:2691:19987,LH00995:48:23YTGFLT4:4:1225:11242:6661,LH00995:48:23YTGFLT4:4:1236:40673:3214,LH00995:48:23YTGFLT4:4:1273:2553:4139,LH00995:48:23YTGFLT4:4:1289:3427:12462,LH00995:48:23YTGFLT4:4:1293:38068:14564,LH00995:48:23YTGFLT4:4:1341:26330:13541,LH00995:48:23YTGFLT4:4:1343:43837:18109,LH00995:48:23YTGFLT4:4:1346:21047:7221,LH00995:48:23YTGFLT4:4:1366:4374:9113,LH00995:48:23YTGFLT4:4:1371:4260:12532,LH00995:48:23YTGFLT4:4:1384:12933:26572,LH00995:48:23YTGFLT4:4:1419:1785:3340,LH00995:48:23YTGFLT4:4:1424:31192:28128,LH00995:48:23YTGFLT4:4:1424:31200:28114,LH00995:48:23YTGFLT4:4:1448:19599:3284,LH00995:48:23YTGFLT4:4:2164:5174:23252,LH00995:48:23YTGFLT4:4:2223:23086:24204,LH00995:48:23YTGFLT4:4:2289:18976:27119,LH00995:48:23YTGFLT4:4:2293:38076:2499,LH00995:48:23YTGFLT4:4:2387:29833:12070,LH00995:48:23YTGFLT4:5:1110:4810:15082,LH00995:48:23YTGFLT4:5:1145:47833:28198,LH00995:48:23YTGFLT4:5:1190:22180:24989,LH00995:48:23YTGFLT4:5:1260:37729:18599,LH00995:48:23YTGFLT4:5:1290:20821:1701,LH00995:48:23YTGFLT4:5:1314:33489:23504,LH00995:48:23YTGFLT4:5:1365:49750:25886,LH00995:48:23YTGFLT4:5:1368:37939:16526,LH00995:48:23YTGFLT4:5:1376:8532:11187,LH00995:48:23YTGFLT4:5:1376:8540:11201,LH00995:48:23YTGFLT4:5:1387:27195:10668,LH00995:48:23YTGFLT4:5:1443:18313:29081,LH00995:48:23YTGFLT4:5:1496:8184:5260,LH00995:48:23YTGFLT4:5:2109:33700:12434,LH00995:48:23YTGFLT4:5:2144:10271:28941,LH00995:48:23YTGFLT4:5:2173:6938:14620,LH00995:48:23YTGFLT4:5:2210:47210:19973,LH00995:48:23YTGFLT4:5:2259:14640:8819,LH00995:48:23YTGFLT4:5:2312:32308:15208,LH00995:48:23YTGFLT4:5:2363:33748:26923,LH00995:48:23YTGFLT4:5:2368:42712:16189,LH00995:48:23YTGFLT4:5:2370:27001:1981,LH00995:48:23YTGFLT4:5:2393:12779:13275,LH00995:48:23YTGFLT4:5:2401:6016:19945,LH00995:48:23YTGFLT4:5:2420:6517:18908,LH00995:48:23YTGFLT4:5:2470:27891:26867,LH00995:48:23YTGFLT4:6:1104:2335:26600,LH00995:48:23YTGFLT4:6:1108:18482:17268,LH00995:48:23YTGFLT4:6:1111:42728:25634,LH00995:48:23YTGFLT4:6:1154:19866:23083,LH00995:48:23YTGFLT4:6:1154:19874:23097,LH00995:48:23YTGFLT4:6:1154:46053:5638,LH00995:48:23YTGFLT4:6:1154:46061:5624,LH00995:48:23YTGFLT4:6:1154:48691:5666,LH00995:48:23YTGFLT4:6:1165:20594:21682,LH00995:48:23YTGFLT4:6:1207:42065:7670,LH00995:48:23YTGFLT4:6:1246:31799:13121,LH00995:48:23YTGFLT4:6:1256:30925:28534,LH00995:48:23YTGFLT4:6:1280:39241:24611,LH00995:48:23YTGFLT4:6:1291:38400:10458,LH00995:48:23YTGFLT4:6:1347:38748:23840,LH00995:48:23YTGFLT4:6:1383:23401:16231,LH00995:48:23YTGFLT4:6:1408:2165:18571,LH00995:48:23YTGFLT4:6:1408:2173:18557,LH00995:48:23YTGFLT4:6:2106:35488:16512,LH00995:48:23YTGFLT4:6:2117:1898:13793,LH00995:48:23YTGFLT4:6:2144:37526:8076,LH00995:48:23YTGFLT4:6:2165:19146:20771,LH00995:48:23YTGFLT4:6:2170:18337:10402,LH00995:48:23YTGFLT4:6:2192:27349:4041,LH00995:48:23YTGFLT4:6:2212:28805:13037,LH00995:48:23YTGFLT4:6:2329:46919:18039,LH00995:48:23YTGFLT4:6:2333:51579:21038,LH00995:48:23YTGFLT4:6:2442:16573:23013,LH00995:48:23YTGFLT4:6:2442:16581:23027,LH00995:48:23YTGFLT4:6:2487:2683:11537,LH00995:48:23YTGFLT4:7:1134:38497:5890,LH00995:48:23YTGFLT4:7:1134:40787:8595,LH00995:48:23YTGFLT4:7:1140:42728:11958,LH00995:48:23YTGFLT4:7:1156:47898:9786,LH00995:48:23YTGFLT4:7:1179:1049:11958,LH00995:48:23YTGFLT4:7:1179:31952:24737,LH00995:48:23YTGFLT4:7:1224:28733:6717,LH00995:48:23YTGFLT4:7:1277:15942:7628,LH00995:48:23YTGFLT4:7:1277:15950:7642,LH00995:48:23YTGFLT4:7:1281:17083:9127,LH00995:48:23YTGFLT4:7:1281:17099:9127,LH00995:48:23YTGFLT4:7:1298:4058:10444,LH00995:48:23YTGFLT4:7:1312:26767:8917,LH00995:48:23YTGFLT4:7:1376:14009:5848,LH00995:48:23YTGFLT4:7:1380:16824:24316,LH00995:48:23YTGFLT4:7:1455:45188:22635,LH00995:48:23YTGFLT4:7:1493:42664:5092,LH00995:48:23YTGFLT4:7:2132:1485:3943,LH00995:48:23YTGFLT4:7:2136:28773:18613,LH00995:48:23YTGFLT4:7:2137:24777:3060,LH00995:48:23YTGFLT4:7:2150:1720:27946,LH00995:48:23YTGFLT4:7:2178:12819:25564,LH00995:48:23YTGFLT4:7:2179:29420:18557,LH00995:48:23YTGFLT4:7:2218:5288:16974,LH00995:48:23YTGFLT4:7:2238:23757:13149,LH00995:48:23YTGFLT4:7:2282:1623:4657,LH00995:48:23YTGFLT4:7:2337:10101:18669,LH00995:48:23YTGFLT4:7:2337:35941:10374,LH00995:48:23YTGFLT4:7:2338:22074:17380,LH00995:48:23YTGFLT4:7:2378:1461:18810,LH00995:48:23YTGFLT4:7:2450:15764:6143,LH00995:48:23YTGFLT4:7:2472:43254:12924,LH00995:48:23YTGFLT4:7:2477:11824:5876,LH00995:48:23YTGFLT4:7:2493:50309:24106,LH00995:48:23YTGFLT4:8:1132:17326:29501,LH00995:48:23YTGFLT4:8:1134:16411:9029,LH00995:48:23YTGFLT4:8:1140:26702:4433,LH00995:48:23YTGFLT4:8:1237:36806:16862,LH00995:48:23YTGFLT4:8:1421:38497:14326,LH00995:48:23YTGFLT4:8:1481:38950:9618,LH00995:48:23YTGFLT4:8:2221:16573:26713,LH00995:48:23YTGFLT4:8:2244:1995:14073,LH00995:48:23YTGFLT4:8:2296:11566:26867,LH00995:48:23YTGFLT4:8:2338:31483:26138,LH00995:48:23YTGFLT4:8:2338:31491:26152,LH00995:48:23YTGFLT4:8:2380:13014:23462,LH00995:48:23YTGFLT4:8:2425:9543:1589,LH00995:48:23YTGFLT4:8:2432:12844:28604,LH00995:48:23YTGFLT4:8:2464:34719:6409,LH00995:48:23YTGFLT4:2:1466:29719:28352,LH00995:48:23YTGFLT4:2:1471:9551:21304,LH00995:48:23YTGFLT4:2:2178:10384:16526,LH00995:48:23YTGFLT4:2:2245:28911:18235,LH00995:48:23YTGFLT4:3:1103:28627:2163,LH00995:48:23YTGFLT4:3:1424:7715:28941,LH00995:48:23YTGFLT4:3:2465:38643:4713,LH00995:48:23YTGFLT4:4:2424:47113:29669,LH00995:48:23YTGFLT4:5:1136:33053:27511,LH00995:48:23YTGFLT4:5:2231:21638:25984,LH00995:48:23YTGFLT4:6:1181:40528:26194,LH00995:48:23YTGFLT4:7:2208:24493:12098,LH00995:48:23YTGFLT4:7:2419:44896:20309,LH00995:48:23YTGFLT4:7:2438:18013:8048,LH00995:48:23YTGFLT4:8:2127:24963:5288

GGA2

-/-

chr16:23510388

chr16:23510402

CDS

duplication/ITD

267

360

medium

in-frame

|Adaptin_C-terminal_domain(100%),GAT_domain(100%),N-terminal_extension_of_GAT_domain(100%),VHS_domain(100%)

ENSG00000103365.15

ENST00000309859.8

upstream

downstream

duplicates(144),low_entropy(1)

GCaGCTGAAGAGGCAGTGGCGCCCGCGGCCGCgGCGTCGGGGCTGGAGCGATGGCGGCGACCGCGGTGGCGGCG|ACCGCGGTGGCGGCGGCTGTGGCGGGAACCGAGTCGGCCCAGGGTCCCCCGGGCCCGGCAGCGTCGCTGGAGCTGTGGCTgA___ACAAAGCCACAGACCCAAGCATGTCGG

MAATAVAA|TAVAAAVAGTESAQGPPGPAASLELWLNKATDPSMS

LH00995:48:23YTGFLT4:1:2455:22827:18571,LH00995:48:23YTGFLT4:2:1149:35269:26418,LH00995:48:23YTGFLT4:2:2110:5126:26895,LH00995:48:23YTGFLT4:2:2123:4794:15166,LH00995:48:23YTGFLT4:2:2262:27584:1841,LH00995:48:23YTGFLT4:2:2262:27592:1827,LH00995:48:23YTGFLT4:3:1104:34282:11117,LH00995:48:23YTGFLT4:5:2152:45204:17058,LH00995:48:23YTGFLT4:5:2209:40924:11691,LH00995:48:23YTGFLT4:5:2225:33522:27848,LH00995:48:23YTGFLT4:5:2280:4390:19006,LH00995:48:23YTGFLT4:6:1112:12415:19762,LH00995:48:23YTGFLT4:6:1195:20173:4839,LH00995:48:23YTGFLT4:6:2144:40843:25059,LH00995:48:23YTGFLT4:6:2195:18402:19286,LH00995:48:23YTGFLT4:7:1467:17123:3901,LH00995:48:23YTGFLT4:7:2197:44921:16203,LH00995:48:23YTGFLT4:7:2382:23385:6395,LH00995:48:23YTGFLT4:8:2345:9446:17815,LH00995:48:23YTGFLT4:1:1271:48682:25662,LH00995:48:23YTGFLT4:1:1271:48682:25662,LH00995:48:23YTGFLT4:1:1284:45608:11761,LH00995:48:23YTGFLT4:1:1284:45608:11761,LH00995:48:23YTGFLT4:1:1284:45616:11747,LH00995:48:23YTGFLT4:1:1284:45616:11747,LH00995:48:23YTGFLT4:1:1320:8540:25718,LH00995:48:23YTGFLT4:1:1320:8540:25718,LH00995:48:23YTGFLT4:1:2265:15271:12882,LH00995:48:23YTGFLT4:1:2265:15271:12882,LH00995:48:23YTGFLT4:1:2455:22827:18571,LH00995:48:23YTGFLT4:2:1149:35269:26418,LH00995:48:23YTGFLT4:2:1237:48820:26853,LH00995:48:23YTGFLT4:2:1237:48820:26853,LH00995:48:23YTGFLT4:2:1279:17884:23490,LH00995:48:23YTGFLT4:2:1279:17884:23490,LH00995:48:23YTGFLT4:2:1311:29469:12924,LH00995:48:23YTGFLT4:2:1311:29469:12924,LH00995:48:23YTGFLT4:2:1337:14737:7025,LH00995:48:23YTGFLT4:2:1337:14737:7025,LH00995:48:23YTGFLT4:2:2110:5126:26895,LH00995:48:23YTGFLT4:2:2123:4794:15166,LH00995:48:23YTGFLT4:2:2171:51554:12336,LH00995:48:23YTGFLT4:2:2171:51554:12336,LH00995:48:23YTGFLT4:2:2177:4851:17450,LH00995:48:23YTGFLT4:2:2177:4851:17450,LH00995:48:23YTGFLT4:2:2262:27584:1841,LH00995:48:23YTGFLT4:2:2262:27592:1827,LH00995:48:23YTGFLT4:2:2306:14656:4727,LH00995:48:23YTGFLT4:2:2306:14656:4727,LH00995:48:23YTGFLT4:2:2352:43756:3648,LH00995:48:23YTGFLT4:2:2352:43756:3648,LH00995:48:23YTGFLT4:2:2474:27390:12182,LH00995:48:23YTGFLT4:2:2474:27390:12182,LH00995:48:23YTGFLT4:3:1104:34282:11117,LH00995:48:23YTGFLT4:3:1421:11396:2499,LH00995:48:23YTGFLT4:3:1421:11396:2499,LH00995:48:23YTGFLT4:3:1450:43545:13625,LH00995:48:23YTGFLT4:3:1450:43545:13625,LH00995:48:23YTGFLT4:3:1451:40423:28534,LH00995:48:23YTGFLT4:3:1451:40423:28534,LH00995:48:23YTGFLT4:3:1451:40431:28520,LH00995:48:23YTGFLT4:3:1451:40431:28520,LH00995:48:23YTGFLT4:3:1497:31904:29193,LH00995:48:23YTGFLT4:3:1497:31904:29193,LH00995:48:23YTGFLT4:3:1497:31912:29207,LH00995:48:23YTGFLT4:3:1497:31912:29207,LH00995:48:23YTGFLT4:3:2134:7205:23125,LH00995:48:23YTGFLT4:3:2134:7205:23125,LH00995:48:23YTGFLT4:3:2197:7974:26699,LH00995:48:23YTGFLT4:3:2197:7974:26699,LH00995:48:23YTGFLT4:3:2303:50317:27988,LH00995:48:23YTGFLT4:3:2303:50317:27988,LH00995:48:23YTGFLT4:3:2311:28296:13695,LH00995:48:23YTGFLT4:3:2311:28296:13695,LH00995:48:23YTGFLT4:3:2366:2246:27960,LH00995:48:23YTGFLT4:3:2366:2246:27960,LH00995:48:23YTGFLT4:3:2397:10951:14984,LH00995:48:23YTGFLT4:3:2397:10951:14984,LH00995:48:23YTGFLT4:3:2397:10967:14984,LH00995:48:23YTGFLT4:3:2397:10967:14984,LH00995:48:23YTGFLT4:3:2414:8087:23476,LH00995:48:23YTGFLT4:3:2414:8087:23476,LH00995:48:23YTGFLT4:4:1133:12811:20477,LH00995:48:23YTGFLT4:4:1133:12811:20477,LH00995:48:23YTGFLT4:4:1160:45544:5960,LH00995:48:23YTGFLT4:4:1160:45544:5960,LH00995:48:23YTGFLT4:4:1195:2917:26208,LH00995:48:23YTGFLT4:4:1195:2917:26208,LH00995:48:23YTGFLT4:4:1196:22099:3578,LH00995:48:23YTGFLT4:4:1196:22099:3578,LH00995:48:23YTGFLT4:4:1284:15829:4321,LH00995:48:23YTGFLT4:4:1284:15829:4321,LH00995:48:23YTGFLT4:4:1346:30650:20295,LH00995:48:23YTGFLT4:4:1346:30650:20295,LH00995:48:23YTGFLT4:4:1357:33724:26208,LH00995:48:23YTGFLT4:4:1357:33724:26208,LH00995:48:23YTGFLT4:4:1385:40099:6507,LH00995:48:23YTGFLT4:4:1385:40099:6507,LH00995:48:23YTGFLT4:4:1477:15683:11215,LH00995:48:23YTGFLT4:4:1477:15683:11215,LH00995:48:23YTGFLT4:4:2240:49322:5330,LH00995:48:23YTGFLT4:4:2240:49322:5330,LH00995:48:23YTGFLT4:4:2259:37429:27385,LH00995:48:23YTGFLT4:4:2259:37429:27385,LH00995:48:23YTGFLT4:5:1125:42421:3999,LH00995:48:23YTGFLT4:5:1125:42421:3999,LH00995:48:23YTGFLT4:5:1184:4689:13723,LH00995:48:23YTGFLT4:5:1184:4689:13723,LH00995:48:23YTGFLT4:5:1264:28765:22915,LH00995:48:23YTGFLT4:5:1264:28765:22915,LH00995:48:23YTGFLT4:5:1394:35811:6423,LH00995:48:23YTGFLT4:5:1394:35811:6423,LH00995:48:23YTGFLT4:5:1486:7448:21612,LH00995:48:23YTGFLT4:5:1486:7448:21612,LH00995:48:23YTGFLT4:5:2152:45204:17058,LH00995:48:23YTGFLT4:5:2185:37106:7095,LH00995:48:23YTGFLT4:5:2185:37106:7095,LH00995:48:23YTGFLT4:5:2209:40924:11691,LH00995:48:23YTGFLT4:5:2225:33522:27848,LH00995:48:23YTGFLT4:5:2270:28555:16666,LH00995:48:23YTGFLT4:5:2270:28555:16666,LH00995:48:23YTGFLT4:5:2280:4390:19006,LH00995:48:23YTGFLT4:5:2353:18094:16708,LH00995:48:23YTGFLT4:5:2353:18094:16708,LH00995:48:23YTGFLT4:5:2420:23814:20085,LH00995:48:23YTGFLT4:5:2420:23814:20085,LH00995:48:23YTGFLT4:5:2420:23822:20099,LH00995:48:23YTGFLT4:5:2420:23822:20099,LH00995:48:23YTGFLT4:6:1112:12415:19762,LH00995:48:23YTGFLT4:6:1187:13564:6255,LH00995:48:23YTGFLT4:6:1187:13564:6255,LH00995:48:23YTGFLT4:6:1195:20173:4839,LH00995:48:23YTGFLT4:6:1323:18644:11635,LH00995:48:23YTGFLT4:6:1323:18644:11635,LH00995:48:23YTGFLT4:6:1362:40948:24793,LH00995:48:23YTGFLT4:6:1362:40948:24793,LH00995:48:23YTGFLT4:6:1453:51660:10444,LH00995:48:23YTGFLT4:6:1453:51660:10444,LH00995:48:23YTGFLT4:6:1462:30383:12602,LH00995:48:23YTGFLT4:6:1462:30383:12602,LH00995:48:23YTGFLT4:6:2144:40843:25059,LH00995:48:23YTGFLT4:6:2195:18402:19286,LH00995:48:23YTGFLT4:6:2227:16225:23644,LH00995:48:23YTGFLT4:6:2227:16225:23644,LH00995:48:23YTGFLT4:6:2462:3249:9716,LH00995:48:23YTGFLT4:6:2462:3249:9716,LH00995:48:23YTGFLT4:7:1123:45778:22957,LH00995:48:23YTGFLT4:7:1123:45778:22957,LH00995:48:23YTGFLT4:7:1467:17123:3901,LH00995:48:23YTGFLT4:7:2159:9964:9267,LH00995:48:23YTGFLT4:7:2159:9964:9267,LH00995:48:23YTGFLT4:7:2197:44921:16203,LH00995:48:23YTGFLT4:7:2218:32211:16105,LH00995:48:23YTGFLT4:7:2218:32211:16105,LH00995:48:23YTGFLT4:7:2354:31435:22579,LH00995:48:23YTGFLT4:7:2354:31435:22579,LH00995:48:23YTGFLT4:7:2382:23385:6395,LH00995:48:23YTGFLT4:8:1218:26289:26054,LH00995:48:23YTGFLT4:8:1218:26289:26054,LH00995:48:23YTGFLT4:8:2129:6744:22355,LH00995:48:23YTGFLT4:8:2129:6744:22355,LH00995:48:23YTGFLT4:8:2264:14227:4461,LH00995:48:23YTGFLT4:8:2264:14227:4461,LH00995:48:23YTGFLT4:8:2345:9446:17815

ARMCX2

-/-

chrX:101657109

chrX:101657135

CDS

duplication/ITD

medium

in-frame

|Armadillo-like(100%)

ENSG00000184867.14

ENST00000356824.9

upstream

downstream

duplicates(29)

GG?TGCAATGGCTTCTGCAATAGCACCACCTCCCGGGGTGACAGAGGCCCTTGGGGCTGCAGAAGCCCCTGCAATGGCAGGGGCT|GCAGAAGCCCCTGCAATGGCAGGGGCTCCCAAAGTGGCAGAAGCTCCCAGAGAAGCGGAGACTTCCAGGGCAGCGGTGCCTCCTGGGACAGTGGTGCCTACCGAAGCGGCAGCACCCACTGAGGTGACCGAGGG

?AMASAIAPPPGVTEALGAAEAPAMAGA|AEAPAMAGAPKVAEAPREAETSRAAVPPGTVVPTEAAAPTEVTE

LH00995:48:23YTGFLT4:1:1194:26249:27217,LH00995:48:23YTGFLT4:3:1335:20812:22060,LH00995:48:23YTGFLT4:3:2451:37777:24877,LH00995:48:23YTGFLT4:4:1301:22592:26516,LH00995:48:23YTGFLT4:5:2156:46797:18025,LH00995:48:23YTGFLT4:5:2289:3605:14900,LH00995:48:23YTGFLT4:6:1148:36159:15068,LH00995:48:23YTGFLT4:7:2148:40067:6114,LH00995:48:23YTGFLT4:7:2479:8904:1350,LH00995:48:23YTGFLT4:1:1194:26249:27217,LH00995:48:23YTGFLT4:1:1420:52145:2990,LH00995:48:23YTGFLT4:1:1420:52145:2990,LH00995:48:23YTGFLT4:1:2195:38610:28142,LH00995:48:23YTGFLT4:1:2195:38610:28142,LH00995:48:23YTGFLT4:2:2373:39023:29585,LH00995:48:23YTGFLT4:2:2373:39023:29585,LH00995:48:23YTGFLT4:3:1335:20812:22060,LH00995:48:23YTGFLT4:3:2451:37777:24877,LH00995:48:23YTGFLT4:4:1106:27551:11229,LH00995:48:23YTGFLT4:4:1106:27551:11229,LH00995:48:23YTGFLT4:4:1301:22592:26516,LH00995:48:23YTGFLT4:4:1342:20149:8356,LH00995:48:23YTGFLT4:4:1342:20149:8356,LH00995:48:23YTGFLT4:4:2285:37211:22467,LH00995:48:23YTGFLT4:4:2285:37211:22467,LH00995:48:23YTGFLT4:4:2474:3565:3676,LH00995:48:23YTGFLT4:4:2474:3565:3676,LH00995:48:23YTGFLT4:5:2156:46797:18025,LH00995:48:23YTGFLT4:5:2289:3605:14900,LH00995:48:23YTGFLT4:5:2321:40617:11327,LH00995:48:23YTGFLT4:5:2321:40617:11327,LH00995:48:23YTGFLT4:5:2341:13572:7838,LH00995:48:23YTGFLT4:5:2341:13572:7838,LH00995:48:23YTGFLT4:6:1148:36159:15068,LH00995:48:23YTGFLT4:6:2135:44783:13583,LH00995:48:23YTGFLT4:6:2135:44783:13583,LH00995:48:23YTGFLT4:6:2387:2917:28786,LH00995:48:23YTGFLT4:6:2387:2917:28786,LH00995:48:23YTGFLT4:7:1201:13426:8314,LH00995:48:23YTGFLT4:7:1201:13426:8314,LH00995:48:23YTGFLT4:7:2148:40067:6114,LH00995:48:23YTGFLT4:7:2479:8904:1350,LH00995:48:23YTGFLT4:8:1108:19680:23994,LH00995:48:23YTGFLT4:8:1108:19680:23994,LH00995:48:23YTGFLT4:8:1464:27770:24639,LH00995:48:23YTGFLT4:8:1464:27770:24639

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

569

604

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(286)

CTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCC?AGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGAcACT

SADDNLKTPPECLLTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstlsg*

LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:1160:20287:14564,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2178:6315:16119,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:1:2298:26063:7502,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:4:1426:34978:25522,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:1159:26071:14242,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:5:2341:11930:5526,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:7:2342:50446:15937,LH00995:48:23YTGFLT4:1:1246:13006:3046,LH00995:48:23YTGFLT4:1:1246:13006:3046,LH00995:48:23YTGFLT4:1:1246:13006:3046,LH00995:48:23YTGFLT4:1:1246:13006:3046,LH00995:48:23YTGFLT4:1:1246:13014:3032,LH00995:48:23YTGFLT4:1:1246:13014:3032,LH00995:48:23YTGFLT4:1:1246:13014:3032,LH00995:48:23YTGFLT4:1:1246:13014:3032,LH00995:48:23YTGFLT4:1:2371:6768:10206,LH00995:48:23YTGFLT4:1:2371:6768:10206,LH00995:48:23YTGFLT4:1:2371:6768:10206,LH00995:48:23YTGFLT4:1:2371:6768:10206,LH00995:48:23YTGFLT4:3:2472:22382:21556,LH00995:48:23YTGFLT4:3:2472:22382:21556,LH00995:48:23YTGFLT4:3:2472:22382:21556,LH00995:48:23YTGFLT4:3:2472:22382:21556,LH00995:48:23YTGFLT4:4:1295:5789:25465,LH00995:48:23YTGFLT4:4:1295:5789:25465,LH00995:48:23YTGFLT4:4:1295:5789:25465,LH00995:48:23YTGFLT4:4:1295:5789:25465,LH00995:48:23YTGFLT4:4:2267:12973:21710,LH00995:48:23YTGFLT4:4:2267:12973:21710,LH00995:48:23YTGFLT4:5:2467:8880:5176,LH00995:48:23YTGFLT4:5:2467:8880:5176,LH00995:48:23YTGFLT4:5:2467:8880:5176,LH00995:48:23YTGFLT4:5:2467:8880:5176,LH00995:48:23YTGFLT4:6:2424:18709:15279,LH00995:48:23YTGFLT4:6:2424:18709:15279,LH00995:48:23YTGFLT4:6:242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MYH8

-/-

chr17:10401331

chr17:10401369

CDS

duplication/ITD

312

medium

in-frame

Myosin_N-terminal_SH3-like_domain(100%),Myosin_head_(motor_domain)(100%),Myosin_tail(15%)|Myosin_tail(85%)

ENSG00000133020.4

ENST00000403437.2

upstream

downstream

duplicates(380),mismappers(4)

GAAGAGATGGCAGGTCTGGATGAAACCATTGCTAAGCTGACCAAGGAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGATGAC___CTGCAGGCAGAGGAGG|CCCACCAGCAGACCCTGG...___CTGCAGGCAGAGGAGG

LQAEE|aHQQTL

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FLT4:3:2465:42194:9772,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27430:13989,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27438:14003,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1203:27446:13989,LH00995:48:23YTGFLT4:4:1328:26742:2485,LH00995:48:23YTGFLT4:4:1328:26742:2485,LH00995:48:23YTGFLT4:4:1328:26742:2485,LH00995:48:23YTGFLT4:4:1328:26742:2485,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1484:42987:27315,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:1495:13006:21290,LH00995:48:23YTGFLT4:4:2106:8200:22607,LH00995:48:23YTGFLT4:4:2106:8200:22607,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2340:31685:21920,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:4:2359:51813:29599,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1147:39144:24583,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1149:18264:18796,LH00995:48:23YTGFLT4:5:1230:23733:21934,LH00995:48:23YTGFLT4:5:1230:23733:21934,LH00995:48:23YTGFLT4:5:1230:23733:21934,LH00995:48:23YTGFLT4:5:1230:23733:21934,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1262:13596:25283,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1336:12399:10514,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1347:50721:10725,LH00995:48:23YTGFLT4:5:1401:39589:3915,LH00995:48:23YTGFLT4:5:1401:39589:3915,LH00995:48:23YTGFLT4:5:1401:39589:3915,LH00995:48:23YTGFLT4:5:1401:39589:3915,LH00995:48:23YTGFLT4:5:1484:18046:24611,LH00995:48:23YTGFLT4:5:1484:18046:24611,LH00995:48:23YTGFLT4:5:1484:18046:24611,LH00995:48:23YTGFLT4:5:1484:18046:24611,LH00995:48:23YTGFLT4:5:1484:18046:24611,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2103:14980:24625,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2130:48577:15531,LH00995:48:23YTGFLT4:5:2179:8580:24387,LH00995:48:23YTGFLT4:5:2179:8580:24387,LH00995:48:23YTGFLT4:5:2179:8580:24387,LH00995:48:23YTGFLT4:5:2179:8580:24387,LH00995:48:23YTGFLT4:5:2179:8580:24387,LH00995:48:23YTGFLT4:5:2205:5765:20603,LH00995:48:23YTGFLT4:5:2205:5765:20603,LH00995:48:23YTGFLT4:5:2205:5765:20603,LH00995:48:23YTGFLT4:5:2205:5765:20603,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2256:24000:18669,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:5:2429:38311:5568,LH00995:48:23YTGFLT4:6:1162:18216:21934,LH00995:48:23YTGFLT4:6:1162:18216:21934,LH00995:48:23YTGFLT4:6:1187:4729:4013,LH00995:48:23YTGFLT4:6:1187:4729:4013,LH00995:48:23YTGFLT4:6:1187:4729:4013,LH00995:48:23YTGFLT4:6:1187:4729:4013

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1234

326

medium

SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000438253.1

ENST00000525967.5

downstream

upstream

duplicates(25)

CCATC___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAA...___CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAAC

LH00995:48:23YTGFLT4:1:2192:22778:26699,LH00995:48:23YTGFLT4:4:1316:32430:19230,LH00995:48:23YTGFLT4:7:2430:9041:4391,LH00995:48:23YTGFLT4:1:1302:2885:7488,LH00995:48:23YTGFLT4:1:1491:29444:4223,LH00995:48:23YTGFLT4:1:2141:22600:6857,LH00995:48:23YTGFLT4:1:2183:49985:1603,LH00995:48:23YTGFLT4:1:2315:28749:19889,LH00995:48:23YTGFLT4:1:2327:13224:17268,LH00995:48:23YTGFLT4:1:2338:20796:26096,LH00995:48:23YTGFLT4:2:1140:26152:15026,LH00995:48:23YTGFLT4:2:1197:2788:11243,LH00995:48:23YTGFLT4:2:1378:10441:7151,LH00995:48:23YTGFLT4:2:1459:34371:25171,LH00995:48:23YTGFLT4:2:2242:49111:2331,LH00995:48:23YTGFLT4:2:2297:41037:24190,LH00995:48:23YTGFLT4:3:1343:12342:18768,LH00995:48:23YTGFLT4:3:1446:29113:11775,LH00995:48:23YTGFLT4:3:2140:13507:28044,LH00995:48:23YTGFLT4:4:2178:41458:6535,LH00995:48:23YTGFLT4:4:2268:1704:13653,LH00995:48:23YTGFLT4:4:2278:18725:22593,LH00995:48:23YTGFLT4:6:1105:21217:25255,LH00995:48:23YTGFLT4:6:1134:2060:19454,LH00995:48:23YTGFLT4:6:1309:13588:15040,LH00995:48:23YTGFLT4:6:1351:1793:7782,LH00995:48:23YTGFLT4:6:1376:50009:22467,LH00995:48:23YTGFLT4:6:1406:26346:20043,LH00995:48:23YTGFLT4:6:2260:15206:13919,LH00995:48:23YTGFLT4:6:2265:7140:4125,LH00995:48:23YTGFLT4:7:1290:17989:10556,LH00995:48:23YTGFLT4:7:2167:20060:13107,LH00995:48:23YTGFLT4:7:2225:51999:10949,LH00995:48:23YTGFLT4:7:2382:31176:13863,LH00995:48:23YTGFLT4:8:1255:27948:21724

FRG1DP

MLLT10P1(867),5_8S_rRNA(80674)

+/+

./+

chr20:29101550

chr20:30404251

exon/splice-site

intergenic

deletion

141

medium

ENSG00000282870.1

ENST00000635586.1

downstream

upstream

duplicates(4),mismatches(1)

GTAAAATTCTTAAAAAGGCTCAGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAG|TCTCCCTCTGATGCCAGGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC

LH00995:48:23YTGFLT4:1:1490:33554:20982,LH00995:48:23YTGFLT4:2:1217:36766:26376,LH00995:48:23YTGFLT4:3:2339:44953:7684,LH00995:48:23YTGFLT4:4:1390:46166:26264,LH00995:48:23YTGFLT4:5:1176:45713:28506,LH00995:48:23YTGFLT4:5:1409:7504:29473,LH00995:48:23YTGFLT4:5:2161:44443:26390,LH00995:48:23YTGFLT4:5:2230:38813:10640,LH00995:48:23YTGFLT4:6:1301:42575:10178,LH00995:48:23YTGFLT4:7:2330:24801:25690,LH00995:48:23YTGFLT4:8:1365:26937:17815,LH00995:48:23YTGFLT4:8:2290:1591:15447

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253767.3

ENST00000622527.1

ENST00000398604.3

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

CTCACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGAT

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

LH00995:48:23YTGFLT4:1:1175:35245:28058,LH00995:48:23YTGFLT4:1:1249:28045:18305,LH00995:48:23YTGFLT4:1:1396:47291:22915,LH00995:48:23YTGFLT4:1:1439:24024:14592,LH00995:48:23YTGFLT4:1:1446:49313:10136,LH00995:48:23YTGFLT4:1:2202:28393:20954,LH00995:48:23YTGFLT4:1:2302:16055:1294,LH00995:48:23YTGFLT4:1:2363:18110:10402,LH00995:48:23YTGFLT4:1:2379:30237:10865,LH00995:48:23YTGFLT4:1:2396:48213:14508,LH00995:48:23YTGFLT4:1:2396:48221:14522,LH00995:48:23YTGFLT4:1:2396:48229:14536,LH00995:48:23YTGFLT4:2:1201:50430:13751,LH00995:48:23YTGFLT4:2:1207:49564:8413,LH00995:48:23YTGFLT4:2:1318:51732:27609,LH00995:48:23YTGFLT4:2:1325:9114:24134,LH00995:48:23YTGFLT4:2:1362:37664:3859,LH00995:48:23YTGFLT4:2:2226:26678:9351,LH00995:48:23YTGFLT4:2:2302:33554:20141,LH00995:48:23YTGFLT4:2:2468:46862:22145,LH00995:48:23YTGFLT4:3:1124:24048:7992,LH00995:48:23YTGFLT4:3:1159:12302:25199,LH00995:48:23YTGFLT4:3:1219:50745:9337,LH00995:48:23YTGFLT4:3:1235:7116:28352,LH00995:48:23YTGFLT4:3:1244:36410:12308,LH00995:48:23YTGFLT4:3:2121:7059:29263,LH00995:48:23YTGFLT4:3:2211:17010:29011,LH00995:48:23YTGFLT4:3:2222:16921:9688,LH00995:48:23YTGFLT4:3:2222:16929:9702,LH00995:48:23YTGFLT4:3:2296:2060:25760,LH00995:48:23YTGFLT4:3:2306:10126:12630,LH00995:48:23YTGFLT4:3:2398:7796:25101,LH00995:48:23YTGFLT4:3:2419:21646:21150,LH00995:48:23YTGFLT4:4:1154:44006:23616,LH00995:48:23YTGFLT4:4:1186:29792:22929,LH00995:48:23YTGFLT4:4:1190:40277:21668,LH00995:48:23YTGFLT4:4:1243:5773:15517,LH00995:48:23YTGFLT4:4:1244:48529:29151,LH00995:48:23YTGFLT4:4:1262:40059:13583,LH00995:48:23YTGFLT4:4:1289:18596:17997,LH00995:48:23YTGFLT4:4:1354:14923:11411,LH00995:48:23YTGFLT4:4:2198:1105:18585,LH00995:48:23YTGFLT4:4:2253:31119:19566,LH00995:48:23YTGFLT4:4:2351:49572:29417,LH00995:48:23YTGFLT4:4:2351:49580:29403,LH00995:48:23YTGFLT4:4:2452:47048:26783,LH00995:48:23YTGFLT4:4:2452:47048:26811,LH00995:48:23YTGFLT4:4:2452:47056:26797,LH00995:48:23YTGFLT4:4:2452:47283:26292,LH00995:48:23YTGFLT4:4:2475:35116:3957,LH00995:48:23YTGFLT4:5:1260:35099:17324,LH00995:48:23YTGFLT4:5:1260:35107:17310,LH00995:48:23YTGFLT4:5:1297:45738:13807,LH00995:48:23YTGFLT4:5:1367:31030:25942,LH00995:48:23YTGFLT4:5:1426:15894:2752,LH00995:48:23YTGFLT4:5:2224:50260:14101,LH00995:48:23YTGFLT4:5:2266:42858:7193,LH00995:48:23YTGFLT4:5:2467:46029:6269,LH00995:48:23YTGFLT4:6:1171:44775:25704,LH00995:48:23YTGFLT4:6:2151:42696:1112,LH00995:48:23YTGFLT4:6:2407:3734:16722,LH00995:48:23YTGFLT4:6:2444:49734:5204,LH00995:48:23YTGFLT4:7:1330:19227:13625,LH00995:48:23YTGFLT4:7:1378:47323:27539,LH00995:48:23YTGFLT4:7:1484:42421:11958,LH00995:48:23YTGFLT4:7:2111:44945:14284,LH00995:48:23YTGFLT4:7:2145:2723:26516,LH00995:48:23YTGFLT4:7:2153:35933:6689,LH00995:48:23YTGFLT4:7:2176:52185:13345,LH00995:48:23YTGFLT4:7:2180:30626:22775,LH00995:48:23YTGFLT4:7:2232:49443:6465,LH00995:48:23YTGFLT4:7:2333:43950:20491,LH00995:48:23YTGFLT4:7:2367:20594:9239,LH00995:48:23YTGFLT4:8:1186:10514:27679,LH00995:48:23YTGFLT4:8:1284:26726:6157,LH00995:48:23YTGFLT4:8:1446:48949:8441,LH00995:48:23YTGFLT4:8:1451:43553:18768,LH00995:48:23YTGFLT4:3:2374:26241:7698

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253873.6

ENST00000622527.1

ENST00000398587.7

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240184.7

ENST00000622527.1

ENST00000308177.5

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253305.2

ENST00000622527.1

ENST00000520790.1

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240764.4

ENST00000622527.1

ENST00000252087.3

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000242419.5

ENST00000622527.1

ENST00000306593.1

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000254122.3

ENST00000622527.1

ENST00000398594.4

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000261934.2

ENST00000622527.1

ENST00000573521.1

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253846.2

ENST00000622527.1

ENST00000398610.2

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

166

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253159.3

ENST00000622527.1

ENST00000252085.4

downstream

upstream

duplicates(69),low_entropy(1),mismatches(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNG

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

350

385

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(13),mismatches(3)

TATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAG

LH00995:48:23YTGFLT4:5:2132:18175:25087,LH00995:48:23YTGFLT4:5:2494:33554:21486,LH00995:48:23YTGFLT4:8:1315:20303:16610,LH00995:48:23YTGFLT4:8:2139:28862:28660,LH00995:48:23YTGFLT4:1:1266:24663:7432,LH00995:48:23YTGFLT4:1:2280:43011:24443,LH00995:48:23YTGFLT4:1:2298:21848:1743,LH00995:48:23YTGFLT4:3:1429:12941:26923,LH00995:48:23YTGFLT4:3:2277:51651:20015,LH00995:48:23YTGFLT4:3:2369:19178:17885,LH00995:48:23YTGFLT4:4:2342:46272:17843,LH00995:48:23YTGFLT4:6:1384:30569:2471,LH00995:48:23YTGFLT4:6:1387:19704:12126,LH00995:48:23YTGFLT4:6:1388:51498:16806,LH00995:48:23YTGFLT4:6:1474:49071:21738,LH00995:48:23YTGFLT4:6:2111:9195:5750,LH00995:48:23YTGFLT4:6:2130:15085:11860,LH00995:48:23YTGFLT4:6:2443:25132:3844,LH00995:48:23YTGFLT4:7:1376:36054:3368,LH00995:48:23YTGFLT4:7:2175:4066:21556,LH00995:48:23YTGFLT4:8:1315:42858:29445,LH00995:48:23YTGFLT4:8:1327:14446:26222

NAALADL2

+/-

+/+

chr3:175003217

chr3:175096790

intron

CDS/splice-site

inversion/3'-3'

465

medium

|Peptidase_family_M28(100%)

ENSG00000177694.16

ENST00000454872.6

upstream

duplicates(19)

TCGAACTCCTGGCCTCCAGTGATTATCCTGCCTCAGTCTCTTGAAGCACAGGGATTACATGTGTGAACCACAGTGCCCAACCTAGATCTACTCTTACTGCT|GTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTACTTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTaGG

LH00995:48:23YTGFLT4:1:1329:51037:20827,LH00995:48:23YTGFLT4:1:1430:30262:13373,LH00995:48:23YTGFLT4:1:2481:43594:2892,LH00995:48:23YTGFLT4:2:2420:28118:23756,LH00995:48:23YTGFLT4:4:1398:26492:14242,LH00995:48:23YTGFLT4:8:1394:29347:13583,LH00995:48:23YTGFLT4:8:1453:26937:12574,LH00995:48:23YTGFLT4:8:2178:10239:8931,LH00995:48:23YTGFLT4:1:1223:50462:2373,LH00995:48:23YTGFLT4:1:2173:3281:13163,LH00995:48:23YTGFLT4:1:2243:22398:5246,LH00995:48:23YTGFLT4:2:1420:40924:20211,LH00995:48:23YTGFLT4:3:1426:42121:6058,LH00995:48:23YTGFLT4:3:2286:3289:19314,LH00995:48:23YTGFLT4:3:2340:34153:8651,LH00995:48:23YTGFLT4:4:1413:46749:27245,LH00995:48:23YTGFLT4:4:2405:51457:16063,LH00995:48:23YTGFLT4:4:2445:2942:28744,LH00995:48:23YTGFLT4:5:1289:1121:19987,LH00995:48:23YTGFLT4:5:1404:4713:10935,LH00995:48:23YTGFLT4:7:1103:46425:12252,LH00995:48:23YTGFLT4:7:2205:37575:21332,LH00995:48:23YTGFLT4:7:2406:11913:12504,LH00995:48:23YTGFLT4:8:2489:8006:1112

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253767.3

ENST00000611914.1

ENST00000398604.3

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

LH00995:48:23YTGFLT4:1:1239:28368:17072,LH00995:48:23YTGFLT4:1:1260:42146:3466,LH00995:48:23YTGFLT4:1:1288:12213:15797,LH00995:48:23YTGFLT4:1:1370:37987:7278,LH00995:48:23YTGFLT4:2:1194:31095:16806,LH00995:48:23YTGFLT4:2:1493:21338:5008,LH00995:48:23YTGFLT4:2:2194:10328:1350,LH00995:48:23YTGFLT4:2:2343:6145:21514,LH00995:48:23YTGFLT4:2:2373:48925:23700,LH00995:48:23YTGFLT4:3:1137:31265:27217,LH00995:48:23YTGFLT4:3:1457:36046:24036,LH00995:48:23YTGFLT4:3:2119:24267:11229,LH00995:48:23YTGFLT4:4:1397:37486:3999,LH00995:48:23YTGFLT4:4:1451:30359:29179,LH00995:48:23YTGFLT4:5:1160:16436:29641,LH00995:48:23YTGFLT4:5:1160:16444:29655,LH00995:48:23YTGFLT4:5:1387:44913:19076,LH00995:48:23YTGFLT4:6:1279:16395:4377,LH00995:48:23YTGFLT4:6:1401:27309:21962,LH00995:48:23YTGFLT4:6:2167:21516:5232,LH00995:48:23YTGFLT4:6:2257:16614:25886,LH00995:48:23YTGFLT4:6:2320:41571:7600,LH00995:48:23YTGFLT4:7:1466:43392:14424,LH00995:48:23YTGFLT4:7:2292:45236:11453,LH00995:48:23YTGFLT4:8:1337:14130:25451,LH00995:48:23YTGFLT4:8:2144:39152:24569,LH00995:48:23YTGFLT4:8:2180:6380:3620,LH00995:48:23YTGFLT4:1:1348:44945:16666,LH00995:48:23YTGFLT4:2:2123:24752:21010,LH00995:48:23YTGFLT4:3:2391:42186:25423,LH00995:48:23YTGFLT4:4:1297:6000:2261,LH00995:48:23YTGFLT4:5:2285:15376:16484,LH00995:48:23YTGFLT4:5:2324:25294:9309,LH00995:48:23YTGFLT4:6:2353:28182:16918,LH00995:48:23YTGFLT4:7:2129:50883:2513,LH00995:48:23YTGFLT4:8:1113:35027:22803,LH00995:48:23YTGFLT4:8:1476:50066:16792,LH00995:48:23YTGFLT4:8:2252:15530:7081

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253873.6

ENST00000611914.1

ENST00000398587.7

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240184.7

ENST00000611914.1

ENST00000308177.5

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253305.2

ENST00000611914.1

ENST00000520790.1

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240764.4

ENST00000611914.1

ENST00000252087.3

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000242419.5

ENST00000611914.1

ENST00000306593.1

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000254122.3

ENST00000611914.1

ENST00000398594.4

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000261934.2

ENST00000611914.1

ENST00000573521.1

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253846.2

ENST00000611914.1

ENST00000398610.2

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

153

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253159.3

ENST00000611914.1

ENST00000252085.4

downstream

upstream

duplicates(34)

AGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGC

KSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRP

ASAP1

TPT1

-/+

-/-

chr8:130071005

chr13:45340186

intron

exon/splice-site

translocation/3'-3'

118

12406

medium

|Translationally_controlled_tumour_protein(79%)

ENSG00000153317.15

ENSG00000133112.17

ENST00000533567.5

downstream

GGGGGAGAGAGAGAGAGAGAGGGGA|AGATGGTCAGTAGGACAGAAGGTAACATTGATGACTCGCTCATTGGTGGAAATGCCTCCGCTGAAGGCCCCGAGGGCGAAGGTACCGAAAGCACAGTAATCACTGGTGTCGATATTGTCATGAACC

LH00995:48:23YTGFLT4:1:2271:31022:17352,LH00995:48:23YTGFLT4:3:1423:20165:4321,LH00995:48:23YTGFLT4:6:2439:48068:13891,LH00995:48:23YTGFLT4:6:2493:43392:2457

AC007920.2(5742),RTP4(64710)

YBX3

./-

-/-

chr3:187303675

chr12:10713332

intergenic

CDS/splice-site

translocation

21558

medium

|'Cold-shock'_DNA-binding_domain(12%)

ENSG00000060138.13

ENST00000228251.9

upstream

downstream

duplicates(2)

GCGGGGGAGAGAGAGAGAGAGAAGG|GTGCAGAAGCTGCCAATGTGACTGGCCCGGATGGAGTTCCTGTGGAAGGGAGTCGTTACGCTGCAGATCGGCGCCGTTACAGACGTGGCT

LH00995:48:23YTGFLT4:1:1261:4058:19580,LH00995:48:23YTGFLT4:1:2244:35860:17885,LH00995:48:23YTGFLT4:4:1492:36062:18291,LH00995:48:23YTGFLT4:5:2213:11630:18039,LH00995:48:23YTGFLT4:6:1128:33400:25255,LH00995:48:23YTGFLT4:8:1190:20732:28786

FBXW11

NCL

-/+

-/-

chr5:171992467

chr2:231460563

intron

CDS/splice-site

translocation/3'-3'

6512

medium

|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)

ENSG00000072803.18

ENSG00000115053.17

ENST00000322723.9

downstream

duplicates(5),mismatches(2)

GGGGGAGAGAGAGAGAGAGAGGAAGA|GCCTGTCAAAGAAGCACCTGGAAAACGAAAGAAGGAAATGGCCAAACAGAAAGCAGCTCCTGAAGCCAAGAAACAGAAAGTGGAAG___GCACAGAACCGACTACGGCTTTCAATCTCTTTGTTGGAAACCTAAACTTTAACAAATCTGCTCCTGAATTAAAA

LH00995:48:23YTGFLT4:1:1223:34234:21626,LH00995:48:23YTGFLT4:1:1223:34242:21640,LH00995:48:23YTGFLT4:1:1251:30253:28772,LH00995:48:23YTGFLT4:3:1216:46134:5806,LH00995:48:23YTGFLT4:3:1216:46150:5806,LH00995:48:23YTGFLT4:5:1276:23094:23181,LH00995:48:23YTGFLT4:5:2343:16945:17773,LH00995:48:23YTGFLT4:5:2345:6153:9197,LH00995:48:23YTGFLT4:6:1201:27406:22915

SPDYA

PPP1CB

+/+

chr2:28799299

chr2:28752038

exon/splice-site

5'UTR/splice-site

duplication

11169

14032

medium

|Calcineurin-like_phosphoesterase(100%),Serine-threonine_protein_phosphatase_N-terminal_domain(100%)

ENSG00000163806.16

ENSG00000213639.10

ENST00000462832.5

ENST00000358506.6

downstream

upstream

duplicates(18)

CTATGGAGCAGATTCGGAGAATTATGAGACCTACTGATGTCCCTGATACAG___ATATTGAAACCATCTGAAAAGAAAGCTAAATACCAGTATGGTGGACTGAATTCTGGACGTCCTGTCACTCCACCTCGAACAGCTAATCCGCCGAAGAAAAG|GTGAGAGAACGCCGAGCCGTCGCCGCAGCCTCCGCCGCCGAGAAGCCCTTGTTCCCGCTGCTGGGAAGGAGAGTCTGTGCCGACAAGATGGCGG

LH00995:48:23YTGFLT4:3:2183:13006:6325,LH00995:48:23YTGFLT4:4:1118:9058:18515,LH00995:48:23YTGFLT4:4:1427:5328:27721,LH00995:48:23YTGFLT4:5:1248:3484:28422,LH00995:48:23YTGFLT4:5:1487:38416:4657,LH00995:48:23YTGFLT4:5:2177:6542:9225,LH00995:48:23YTGFLT4:6:1168:30925:2303,LH00995:48:23YTGFLT4:7:1205:30836:24457,LH00995:48:23YTGFLT4:7:2315:45260:25704,LH00995:48:23YTGFLT4:7:2353:47542:28114,LH00995:48:23YTGFLT4:8:1175:2238:25311,LH00995:48:23YTGFLT4:8:2334:15991:16147,LH00995:48:23YTGFLT4:2:1340:12957:7838,LH00995:48:23YTGFLT4:2:2308:29841:18081,LH00995:48:23YTGFLT4:3:2118:17172:19790,LH00995:48:23YTGFLT4:3:2230:21063:4923,LH00995:48:23YTGFLT4:4:1316:47752:21052,LH00995:48:23YTGFLT4:4:2212:15166:12504,LH00995:48:23YTGFLT4:4:2479:6315:14017,LH00995:48:23YTGFLT4:5:1197:3192:10739,LH00995:48:23YTGFLT4:5:2396:36143:9463,LH00995:48:23YTGFLT4:8:2396:41046:18992

SPDYA

PPP1CB

+/+

chr2:28788809

chr2:28783907

exon/splice-site

CDS/splice-site

duplication

12033

14196

medium

|Calcineurin-like_phosphoesterase(37%)

ENSG00000163806.16

ENSG00000213639.10

ENST00000462832.5

ENST00000358506.6

downstream

upstream

duplicates(35)

GTGCAAGGCTGGGGAGAAAATGATCGTGGTGTTTCCTTTACTTTTGGAGCTGATGTAGTCAGTAAATTTCTGAATCGTCATGATTTAGATTTGATTTGTCGAGCTCATCAG|GATTGTCACCAGACCTGCAATCTATGGAGCAGATTCGGAGAATTATGAGACCTACTGATGTCCCTGATACAG___GTTTGCTCTGTGATTTGCTATGGTCTGATCCAGATAAGGATGTGCAAGGCTGG

LH00995:48:23YTGFLT4:1:1127:16581:1308,LH00995:48:23YTGFLT4:1:2123:31030:19636,LH00995:48:23YTGFLT4:1:2268:51174:20757,LH00995:48:23YTGFLT4:1:2268:51190:20757,LH00995:48:23YTGFLT4:1:2469:48229:16217,LH00995:48:23YTGFLT4:2:1242:15060:25690,LH00995:48:23YTGFLT4:2:2167:21718:5946,LH00995:48:23YTGFLT4:3:2464:18207:1462,LH00995:48:23YTGFLT4:4:1168:32373:1336,LH00995:48:23YTGFLT4:4:1393:27301:10262,LH00995:48:23YTGFLT4:4:1393:27309:10248,LH00995:48:23YTGFLT4:4:1482:36612:19328,LH00995:48:23YTGFLT4:4:2210:26953:14312,LH00995:48:23YTGFLT4:4:2286:5247:22397,LH00995:48:23YTGFLT4:4:2292:1413:9730,LH00995:48:23YTGFLT4:4:2412:37397:17773,LH00995:48:23YTGFLT4:5:2213:10344:12924,LH00995:48:23YTGFLT4:5:2214:30035:23602,LH00995:48:23YTGFLT4:6:1318:2011:1462,LH00995:48:23YTGFLT4:7:1401:43885:18081,LH00995:48:23YTGFLT4:8:2112:1340:27904,LH00995:48:23YTGFLT4:8:2282:33392:24344,LH00995:48:23YTGFLT4:8:2402:32640:29151,LH00995:48:23YTGFLT4:1:1126:24995:8286,LH00995:48:23YTGFLT4:1:1161:21662:10444,LH00995:48:23YTGFLT4:1:1374:35892:5078,LH00995:48:23YTGFLT4:1:1426:7925:16862,LH00995:48:23YTGFLT4:2:1131:37672:1575,LH00995:48:23YTGFLT4:3:2347:25488:4909,LH00995:48:23YTGFLT4:5:1144:48415:29711,LH00995:48:23YTGFLT4:5:1307:28894:11986,LH00995:48:23YTGFLT4:6:1113:38109:25620,LH00995:48:23YTGFLT4:6:1113:38117:25634,LH00995:48:23YTGFLT4:6:1125:20351:1476,LH00995:48:23YTGFLT4:6:1125:20359:1490,LH00995:48:23YTGFLT4:6:2421:34889:12700,LH00995:48:23YTGFLT4:7:2269:3411:13639,LH00995:48:23YTGFLT4:7:2305:29509:18796,LH00995:48:23YTGFLT4:7:2462:43610:25339

SPDYA

PPP1CB

+/+

chr2:28793997

chr2:28776851

exon/splice-site

CDS/splice-site

duplication

11541

33638

low

|Calcineurin-like_phosphoesterase(100%),Serine-threonine_protein_phosphatase_N-terminal_domain(78%)

ENSG00000163806.16

ENSG00000213639.10

ENST00000462832.5

ENST00000358506.6

downstream

upstream

duplicates(12)

GGAATGATGAGTGTGGATGAAACTTTGATGTGTTCATTTCAG|TACGAGGATGTCGTCCAGGAAAGATTGTGCAGATGACTGAAGCAGAAGTTCGAGGCTTATGTATCAAGTCTCGGGAGATCTTTCTCAGCCAGCCTATTCTTTTGGAATTGGAAGCACCGCTGAAAATTTGTG___GAGATATTCATGGACAgTATACAGATTTACTGAGATTATTTGA

LH00995:48:23YTGFLT4:1:2466:35196:28702,LH00995:48:23YTGFLT4:2:2127:26702:15587,LH00995:48:23YTGFLT4:3:1212:32235:4825,LH00995:48:23YTGFLT4:3:2266:41903:28492,LH00995:48:23YTGFLT4:3:2462:38246:18291,LH00995:48:23YTGFLT4:4:2392:24283:12714,LH00995:48:23YTGFLT4:5:1294:12900:20071,LH00995:48:23YTGFLT4:5:1294:12917:20071,LH00995:48:23YTGFLT4:5:1357:40576:27483,LH00995:48:23YTGFLT4:5:1368:29631:11635,LH00995:48:23YTGFLT4:5:1368:29639:11621,LH00995:48:23YTGFLT4:6:2109:9462:4307,LH00995:48:23YTGFLT4:7:2342:9996:26895,LH00995:48:23YTGFLT4:8:2305:29849:17450

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253767.3

ENST00000612927.1

ENST00000398604.3

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

LH00995:48:23YTGFLT4:1:1244:17131:8819,LH00995:48:23YTGFLT4:1:1244:17140:8833,LH00995:48:23YTGFLT4:1:1423:51546:1560,LH00995:48:23YTGFLT4:1:2149:6542:6143,LH00995:48:23YTGFLT4:3:1238:34929:9043,LH00995:48:23YTGFLT4:3:2157:46288:4923,LH00995:48:23YTGFLT4:5:1491:24372:6647,LH00995:48:23YTGFLT4:6:1397:37656:17689,LH00995:48:23YTGFLT4:6:2438:40536:8104,LH00995:48:23YTGFLT4:7:2327:44120:6269,LH00995:48:23YTGFLT4:8:2392:30367:16245,LH00995:48:23YTGFLT4:1:2387:43715:7249,LH00995:48:23YTGFLT4:1:2411:50980:9463,LH00995:48:23YTGFLT4:2:1385:35771:27932,LH00995:48:23YTGFLT4:2:1385:40762:9533,LH00995:48:23YTGFLT4:2:1490:3670:3550,LH00995:48:23YTGFLT4:2:2128:29032:22145,LH00995:48:23YTGFLT4:2:2196:15724:24849,LH00995:48:23YTGFLT4:2:2292:26589:3004,LH00995:48:23YTGFLT4:2:2304:11978:9702,LH00995:48:23YTGFLT4:3:1433:26451:3326,LH00995:48:23YTGFLT4:3:2174:14041:12126,LH00995:48:23YTGFLT4:3:2217:37963:10430,LH00995:48:23YTGFLT4:3:2222:25440:21780,LH00995:48:23YTGFLT4:3:2380:26985:6913,LH00995:48:23YTGFLT4:4:1286:11428:19286,LH00995:48:23YTGFLT4:4:2214:21128:4083,LH00995:48:23YTGFLT4:5:1219:35471:15503,LH00995:48:23YTGFLT4:5:1442:3168:11481,LH00995:48:23YTGFLT4:5:2210:44848:26951,LH00995:48:23YTGFLT4:5:2436:22018:29277,LH00995:48:23YTGFLT4:6:1163:2108:22032,LH00995:48:23YTGFLT4:6:1262:16711:2766,LH00995:48:23YTGFLT4:6:1262:16719:2780,LH00995:48:23YTGFLT4:6:1263:21484:13919,LH00995:48:23YTGFLT4:6:1265:50697:6339,LH00995:48:23YTGFLT4:6:1433:46110:24176,LH00995:48:23YTGFLT4:6:1462:20521:25143,LH00995:48:23YTGFLT4:6:1479:5838:14592,LH00995:48:23YTGFLT4:6:1483:45697:29291,LH00995:48:23YTGFLT4:6:2150:40317:6465,LH00995:48:23YTGFLT4:6:2227:49346:24737,LH00995:48:23YTGFLT4:7:1207:8119:11565,LH00995:48:23YTGFLT4:7:1261:46854:26699,LH00995:48:23YTGFLT4:7:2269:51498:14059,LH00995:48:23YTGFLT4:7:2424:1736:8693,LH00995:48:23YTGFLT4:8:1280:42615:23784,LH00995:48:23YTGFLT4:8:2396:8718:1224

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253873.6

ENST00000612927.1

ENST00000398587.7

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240184.7

ENST00000612927.1

ENST00000308177.5

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253305.2

ENST00000612927.1

ENST00000520790.1

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

EXOC4

AC079760.2

+/+

+/-

chr7:133895735

chr7:91449839

CDS/splice-site

intron

inversion/3'-3'

397

medium

out-of-frame

Sec8_exocyst_complex_component_specific_domain(100%)|

ENSG00000131558.15

ENSG00000243144.7

ENST00000253861.5

downstream

duplicates(5)

GGCCTCTCCTACAG___AGCACAATCATTGTGGAGAAGACAGTTCAAGACCTCCTGAACCTGATGCATGACTTGAGTGCATATTCAGATCAATTCCTCAACATGGTGTGCGTGAAGCTCCAGGAGTACAAGGACACCTGCACTGCAGCTTACAG|TTAAGGTGGCAGGAGTGGAATCTTGGATTCACCATATCTGAGTTAAATTTTGG

PLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYs|*

LH00995:48:23YTGFLT4:2:2262:15724:3410,LH00995:48:23YTGFLT4:2:2414:5838:15909,LH00995:48:23YTGFLT4:2:2414:5846:15895,LH00995:48:23YTGFLT4:4:2198:50462:18459,LH00995:48:23YTGFLT4:5:2329:12997:23826,LH00995:48:23YTGFLT4:6:1109:10433:10584,LH00995:48:23YTGFLT4:6:1385:23571:12042,LH00995:48:23YTGFLT4:8:2353:37041:20827

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240764.4

ENST00000612927.1

ENST00000252087.3

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000242419.5

ENST00000612927.1

ENST00000306593.1

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000254122.3

ENST00000612927.1

ENST00000398594.4

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000261934.2

ENST00000612927.1

ENST00000573521.1

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253846.2

ENST00000612927.1

ENST00000398610.2

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4429

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253159.3

ENST00000612927.1

ENST00000252085.4

downstream

upstream

duplicates(44),low_entropy(1)

GCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNG

EXOC4

AC079760.1

+/+

-/-

chr7:133895735

chr7:91449839

CDS/splice-site

intron

inversion

397

medium

out-of-frame

Sec8_exocyst_complex_component_specific_domain(100%)|

ENSG00000131558.15

ENSG00000235450.1

ENST00000253861.5

downstream

duplicates(5)

PLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYs|*

AC002059.3

SH2D3A

+/+

-/-

chr22:29393712

chr19:6753640

intron

CDS/splice-site

translocation

2755

medium

ENSG00000285697.1

ENSG00000125731.13

ENST00000245908.11

downstream

GAGAGAGAGAGAGAGAGGGCGCTGG|ACCCTGCGACCCCGGCGAGGTGGCGCTGCCGCACGTGGCACCCATGGTTCGCCTACTGGAG

LH00995:48:23YTGFLT4:2:2493:24809:13233,LH00995:48:23YTGFLT4:3:2301:34622:4951,LH00995:48:23YTGFLT4:4:1257:50907:20211

AC107391.1(64121),AC105924.1(19679)

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

41568

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(19)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGG

LH00995:48:23YTGFLT4:1:1336:21338:12042,LH00995:48:23YTGFLT4:1:1336:21346:12056,LH00995:48:23YTGFLT4:1:1344:28021:4979,LH00995:48:23YTGFLT4:2:1261:45705:13695,LH00995:48:23YTGFLT4:2:1280:26192:5624,LH00995:48:23YTGFLT4:2:1384:15368:28408,LH00995:48:23YTGFLT4:2:1384:15376:28422,LH00995:48:23YTGFLT4:2:2281:32664:8230,LH00995:48:23YTGFLT4:3:1147:48966:8216,LH00995:48:23YTGFLT4:3:1450:30925:11495,LH00995:48:23YTGFLT4:3:2401:46183:17577,LH00995:48:23YTGFLT4:4:1234:32672:8805,LH00995:48:23YTGFLT4:4:2183:48634:26979,LH00995:48:23YTGFLT4:4:2372:41814:13429,LH00995:48:23YTGFLT4:5:1215:49257:4965,LH00995:48:23YTGFLT4:5:2284:12795:13219,LH00995:48:23YTGFLT4:5:2486:41863:16512,LH00995:48:23YTGFLT4:6:1122:7771:3929,LH00995:48:23YTGFLT4:6:1369:37025:27357,LH00995:48:23YTGFLT4:7:1489:3912:8511,LH00995:48:23YTGFLT4:8:1218:47153:21948,LH00995:48:23YTGFLT4:8:2327:17560:10795

KRT17P3

FP236383.3

-/-

+/+

chr17:30571742

chr21:8397690

exon

intron

translocation

3507

1556

low

ENSG00000231870.4

ENSG00000280441.3

ENST00000420566.3

upstream

duplicates(226),low_entropy(1),mismatches(1)

GGCCCCTCTCCTCtCCAGCCCTTCTCCTGTGTGCCTGCCTCCTGCCGCCGCCACCATGACCAC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LH00995:48:23YTGFLT4:1:1122:46862:21528,LH00995:48:23YTGFLT4:1:1127:41215:2808,LH00995:48:23YTGFLT4:1:1134:41377:15447,LH00995:48:23YTGFLT4:1:1143:48084:22999,LH00995:48:23YTGFLT4:1:1174:3362:5176,LH00995:48:23YTGFLT4:1:1175:9349:3830,LH00995:48:23YTGFLT4:1:1186:49637:6605,LH00995:48:23YTGFLT4:1:1194:27276:4419,LH00995:48:23YTGFLT4:1:1194:27284:4433,LH00995:48:23YTGFLT4:1:1194:9179:3088,LH00995:48:23YTGFLT4:1:1220:7027:4097,LH00995:48:23YTGFLT4:1:1228:37073:19734,LH00995:48:23YTGFLT4:1:1229:26403:11537,LH00995:48:23YTGFLT4:1:1229:47331:1294,LH00995:48:23YTGFLT4:1:1255:49483:28786,LH00995:48:23YTGFLT4:1:1291:21176:10416,LH00995:48:23YTGFLT4:1:1309:11784:20239,LH00995:48:23YTGFLT4:1:1329:38295:17310,LH00995:48:23YTGFLT4:1:1369:37785:11775,LH00995:48:23YTGFLT4:1:1371:25124:5960,LH00995:48:23YTGFLT4:1:1373:22341:8539,LH00995:48:23YTGFLT4:1:1395:6445:21444,LH00995:48:23YTGFLT4:1:1402:27349:16063,LH00995:48:23YTGFLT4:1:1402:31669:29179,LH00995:48:23YTGFLT4:1:1427:23595:10711,LH00995:48:23YTGFLT4:1:1438:38036:13779,LH00995:48:23YTGFLT4:1:1448:50665:16624,LH00995:48:23YTGFLT4:1:1487:20796:10094,LH00995:48:23YTGFLT4:1:2110:44071:26362,LH00995:48:23YTGFLT4:1:2113:25723:20281,LH00995:48:23YTGFLT4:1:2146:34396:7502,LH00995:48:23YTGFLT4:1:2159:40228:17913,LH00995:48:23YTGFLT4:1:2161:23450:6563,LH00995:48:23YTGFLT4:1:2175:9729:6199,LH00995:48:23YTGFLT4:1:2178:23102:11565,LH00995:48:23YTGFLT4:1:2212:9446:3915,LH00995:48:23YTGFLT4:1:2224:48124:15419,LH00995:48:23YTGFLT4:1:2229:16420:17282,LH00995:48:23YTGFLT4:1:2247:25990:12084,LH00995:48:23YTGFLT4:1:2266:28668:5484,LH00995:48:23YTGFLT4:1:2277:40439:13317,LH00995:48:23YTGFLT4:1:2283:2642:16343,LH00995:48:23YTGFLT4:1:2284:5830:24555,LH00995:48:23YTGFLT4:1:2294:18984:13065,LH00995:48:23YTGFLT4:1:2304:11485:19720,LH00995:48:23YTGFLT4:1:2311:30092:15152,LH00995:48:23YTGFLT4:1:2318:33271:18501,LH00995:48:23YTGFLT4:1:2347:8750:9632,LH00995:48:23YTGFLT4:1:2348:5603:16231,LH00995:48:23YTGFLT4:1:2355:37753:9001,LH00995:48:23YTGFLT4:1:2358:3427:29249,LH00995:48:23YTGFLT4:1:2359:37308:1953,LH00995:48:23YTGFLT4:1:2361:23806:11299,LH00995:48:23YTGFLT4:1:2361:38449:2359,LH00995:48:23YTGFLT4:1:2361:44678:26853,LH00995:48:23YTGFLT4:1:2384:12731:2878,LH00995:48:23YTGFLT4:1:2386:40698:24779,LH00995:48:23YTGFLT4:1:2412:26645:7334,LH00995:48:23YTGFLT4:1:2424:37073:2079,LH00995:48:23YTGFLT4:1:2431:42599:3326,LH00995:48:23YTGFLT4:1:2451:41725:4699,LH00995:48:23YTGFLT4:1:2453:9608:13583,LH00995:48:23YTGFLT4:1:2458:29461:24485,LH00995:48:23YTGFLT4:1:2469:29469:29515,LH00995:48:23YTGFLT4:1:2471:2125:8272,LH00995:48:23YTGFLT4:2:1156:49103:12098,LH00995:48:23YTGFLT4:2:1219:21265:28506,LH00995:48:23YTGFLT4:2:1228:7868:16203,LH00995:48:23YTGFLT4:2:1237:43675:23658,LH00995:48:23YTGFLT4:2:1242:25488:3788,LH00995:48:23YTGFLT4:2:1269:19194:6255,LH00995:48:23YTGFLT4:2:1271:43197:22635,LH00995:48:23YTGFLT4:2:1286:48302:24246,LH00995:48:23YTGFLT4:2:1293:18345:10416,LH00995:48:23YTGFLT4:2:1313:27511:17408,LH00995:48:23YTGFLT4:2:1313:27527:17408,LH00995:48:23YTGFLT4:2:1359:26856:28016,LH00995:48:23YTGFLT4:2:1364:5506:16736,LH00995:48:23YTGFLT4:2:1373:12302:17969,LH00995:48:23YTGFLT4:2:1388:1801:2443,LH00995:48:23YTGFLT4:2:1389:39525:24401,LH00995:48:23YTGFLT4:2:1390:29687:7474,LH00995:48:23YTGFLT4:2:1414:35140:4279,LH00995:48:23YTGFLT4:2:1426:35649:2275,LH00995:48:23YTGFLT4:2:1483:19073:8679,LH00995:48:23YTGFLT4:2:1488:15611:3634,LH00995:48:23YTGFLT4:2:2122:4042:14620,LH00995:48:23YTGFLT4:2:2139:22261:17282,LH00995:48:23YTGFLT4:2:2140:15764:4461,LH00995:48:23YTGFLT4:2:2194:17034:14984,LH00995:48:23YTGFLT4:2:2194:2003:2990,LH00995:48:23YTGFLT4:2:2201:31257:16301,LH00995:48:23YTGFLT4:2:2228:44880:6353,LH00995:48:23YTGFLT4:2:2256:29533:15138,LH00995:48:23YTGFLT4:2:2279:16023:10234,LH00995:48:23YTGFLT4:2:2279:4341:7348,LH00995:48:23YTGFLT4:2:2297:5352:7950,LH00995:48:23YTGFLT4:2:2302:8580:11663,LH00995:48:23YTGFLT4:2:2304:12059:19426,LH00995:48:23YTGFLT4:2:2316:1388:1420,LH00995:48:23YTGFLT4:2:2324:36984:4671,LH00995:48:23YTGFLT4:2:2326:49176:26909,LH00995:48:23YTGFLT4:2:2414:31354:15349,LH00995:48:23YTGFLT4:2:2449:20157:27455,LH00995:48:23YTGFLT4:2:2481:18903:17773,LH00995:48:23YTGFLT4:2:2481:24647:18445,LH00995:48:23YTGFLT4:3:1204:3613:28478,LH00995:48:23YTGFLT4:3:1252:7553:13667,LH00995:48:23YTGFLT4:3:1254:43545:14130,LH00995:48:23YTGFLT4:3:1263:20416:10164,LH00995:48:23YTGFLT4:3:1282:47695:13191,LH00995:48:23YTGFLT4:3:1286:40552:5358,LH00995:48:23YTGFLT4:3:1336:37737:1687,LH00995:48:23YTGFLT4:3:1352:27220:27469,LH00995:48:23YTGFLT4:3:1367:8232:14732,LH00995:48:23YTGFLT4:3:1372:19801:7530,LH00995:48:23YTGFLT4:3:1372:8677:20547,LH00995:48:23YTGFLT4:3:1376:21460:29375,LH00995:48:23YTGFLT4:3:1382:25408:12308,LH00995:48:23YTGFLT4:3:1412:3759:9449,LH00995:48:23YTGFLT4:3:1424:30585:14326,LH00995:48:23YTGFLT4:3:1424:40948:9435,LH00995:48:23YTGFLT4:3:1424:41054:3676,LH00995:48:23YTGFLT4:3:1433:41531:19692,LH00995:48:23YTGFLT4:3:2102:45018:15727,LH00995:48:23YTGFLT4:3:2110:25367:10220,LH00995:48:23YTGFLT4:3:2129:4657:97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MUC1

-/-

chr1:155189817

chr1:155189874

CDS

duplication/ITD

1565

1349

low

out-of-frame

SEA_domain(1%)|SEA_domain(98%)

ENSG00000185499.16

ENST00000611571.4

upstream

downstream

duplicates(60),homopolymer(14)

AgCAGGCCGGCCCCGGGCTCCACCGCCC|GCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCC...___CTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGC

sRPAPGSTA|rsprchlgpghqagpglhrp

LH00995:48:23YTGFLT4:2:1232:32082:6465,LH00995:48:23YTGFLT4:2:1232:32082:6465,LH00995:48:23YTGFLT4:2:1232:32082:6465,LH00995:48:23YTGFLT4:2:1232:32090:6451,LH00995:48:23YTGFLT4:2:1232:32090:6451,LH00995:48:23YTGFLT4:2:1232:32090:6451,LH00995:48:23YTGFLT4:2:1401:47954:5120,LH00995:48:23YTGFLT4:2:1401:47954:5120,LH00995:48:23YTGFLT4:3:1222:6024:8441,LH00995:48:23YTGFLT4:3:1222:6024:8441,LH00995:48:23YTGFLT4:3:1407:4956:3424,LH00995:48:23YTGFLT4:3:1407:4956:3424,LH00995:48:23YTGFLT4:3:1407:4956:3424,LH00995:48:23YTGFLT4:3:1407:4956:3424,LH00995:48:23YTGFLT4:6:1160:28797:24316,LH00995:48:23YTGFLT4:6:1160:28797:24316,LH00995:48:23YTGFLT4:6:1160:28797:24316,LH00995:48:23YTGFLT4:6:1160:28797:24316,LH00995:48:23YTGFLT4:6:2133:38465:6619,LH00995:48:23YTGFLT4:6:2133:38465:6619,LH00995:48:23YTGFLT4:6:2220:22099:25550,LH00995:48:23YTGFLT4:6:2220:22099:25550,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:8:1363:3362:5288,LH00995:48:23YTGFLT4:8:1363:3362:5288,LH00995:48:23YTGFLT4:8:1363:3362:5288,LH00995:48:23YTGFLT4:8:1363:3362:5288,LH00995:48:23YTGFLT4:5:1444:23709:27497,LH00995:48:23YTGFLT4:1:1195:36669:26628,LH00995:48:23YTGFLT4:1:2451:32074:19006,LH00995:48:23YTGFLT4:2:1133:42575:12280,LH00995:48:23YTGFLT4:2:1206:10732:28506,LH00995:48:23YTGFLT4:2:2425:8653:25774,LH00995:48:23YTGFLT4:3:2171:45309:20771,LH00995:48:23YTGFLT4:3:2338:13232:7362,LH00995:48:23YTGFLT4:5:2387:2036:20701,LH00995:48:23YTGFLT4:5:2434:29873:6927,LH00995:48:23YTGFLT4:6:1295:1291:29529,LH00995:48:23YTGFLT4:6:2180:23879:19776,LH00995:48:23YTGFLT4:7:1209:51821:13331,LH00995:48:23YTGFLT4:7:1267:50923:9618,LH00995:48:23YTGFLT4:7:1268:22309:5428,LH00995:48:23YTGFLT4:7:2242:17819:10094,LH00995:48:23YTGFLT4:7:2393:41345:9926,LH00995:48:23YTGFLT4:7:2450:9454:5554,LH00995:48:23YTGFLT4:8:2229:41070:5358,LH00995:48:23YTGFLT4:8:2407:44225:6591,LH00995:48:23YTGFLT4:1:1206:49063:7628,LH00995:48:23YTGFLT4:1:2372:40625:1504,LH00995:48:23YTGFLT4:2:2394:41199:15251,LH00995:48:23YTGFLT4:3:1446:30124:25718,LH00995:48:23YTGFLT4:7:2475:24623:29333,LH00995:48:23YTGFLT4:8:1346:39719:14003,LH00995:48:23YTGFLT4:5:1329:33967:13513,LH00995:48:23YTGFLT4:5:1329:33967:13513,LH00995:48:23YTGFLT4:6:2113:43788:27721,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:5:1444:23709:27497,LH00995:48:23YTGFLT4:1:2237:17560:7936,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:2:2371:22123:27021,LH00995:48:23YTGFLT4:3:2457:2545:5526,LH00995:48:23YTGFLT4:3:2457:2545:5526,LH00995:48:23YTGFLT4:3:2457:2545:5526,LH00995:48:23YTGFLT4:3:2457:2545:5526,LH00995:48:23YTGFLT4:3:2457:2545:5526,LH00995:48:23YTGFLT4:5:2275:28433:7824,LH00995:48:23YTGFLT4:7:2227:47404:5148,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:4:1176:45503:6899,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:5:1209:30197:4909,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:2:2112:4050:6451,LH00995:48:23YTGFLT4:4:1210:34226:7095,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:7:2115:3710:11719,LH00995:48:23YTGFLT4:1:1459:40568:28478,LH00995:48:23YTGFLT4:3:1222:6024:8441,LH00995:48:23YTGFLT4:3:1222:6024:8441,LH00995:48:23YTGFLT4:6:2220:22099:25550,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:6:2464:10473:12952,LH00995:48:23YTGFLT4:2:2497:15878:26797,LH00995:48:23YTGFLT4:6:2242:31071:10178,LH00995:48:23YTGFLT4:8:2349:8435:13317,LH00995:48:23YTGFLT4:2:2270:43351:25367,LH00995:48:23YTGFLT4:2:2276:20837:10697,LH00995:48:23YTGFLT4:4:2305:2003:1532,LH00995:48:23YTGFLT4:5:1457:1299:6367,LH00995:48:23YTGFLT4:5:2173:48189:16820,LH00995:48:23YTGFLT4:8:1195:7529:19959,LH00995:48:23YTGFLT4:2:2248:11396:7964,LH00995:48:23YTGFLT4:7:2272:31847:6199,LH00995:48:23YTGFLT4:8:1476:43068:17731,LH00995:48:23YTGFLT4:2:1212:18248:3298,LH00995:48:23YTGFLT4:8:1476:43068:17731

DES

FP671120.4

+/+

chr2:219426085

chr21:8216919

3'UTR

intron

translocation

27151

23714

low

stop-codon

Intermediate_filament_head_(DNA_binding)_region(100%),Intermediate_filament_protein(100%)|

ENSG00000175084.12

ENSG00000278996.1

ENST00000373960.4

downstream

upstream

duplicates(32),mismatches(1)

AGCATGAAGTGCTCTAAAGACAGAGACCCTCTGCCACCAGAGACCGTCCTCACCCCTGTCCTCACTGCTCCCTGAAGCCAGCCTTCTTCCATCCCAGGACACCACACCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1224:10206:22355,LH00995:48:23YTGFLT4:1:1388:46733:27413,LH00995:48:23YTGFLT4:1:1428:4754:12798,LH00995:48:23YTGFLT4:1:2249:21144:5736,LH00995:48:23YTGFLT4:1:2406:16711:15180,LH00995:48:23YTGFLT4:1:2471:49985:20267,LH00995:48:23YTGFLT4:1:2486:2116:21794,LH00995:48:23YTGFLT4:2:1118:9842:20996,LH00995:48:23YTGFLT4:2:1126:43367:23069,LH00995:48:23YTGFLT4:2:1272:27422:23896,LH00995:48:23YTGFLT4:2:1389:20667:11916,LH00995:48:23YTGFLT4:2:1493:21087:28310,LH00995:48:23YTGFLT4:2:2121:29072:10500,LH00995:48:23YTGFLT4:2:2127:32680:7025,LH00995:48:23YTGFLT4:2:2329:28522:10164,LH00995:48:23YTGFLT4:2:2393:38279:23952,LH00995:48:23YTGFLT4:3:1108:7796:24653,LH00995:48:23YTGFLT4:3:1246:32486:2681,LH00995:48:23YTGFLT4:3:1476:33530:21892,LH00995:48:23YTGFLT4:3:1479:44775:9870,LH00995:48:23YTGFLT4:3:2106:23393:28576,LH00995:48:23YTGFLT4:3:2201:31362:22313,LH00995:48:23YTGFLT4:3:2216:1793:5960,LH00995:48:23YTGFLT4:3:2246:48885:24302,LH00995:48:23YTGFLT4:3:2438:46644:1897,LH00995:48:23YTGFLT4:3:2449:17722:26713,LH00995:48:23YTGFLT4:3:2490:8297:11201,LH00995:48:23YTGFLT4:4:1181:5223:29529,LH00995:48:23YTGFLT4:4:1194:17827:10052,LH00995:48:23YTGFLT4:4:2270:28150:8707,LH00995:48:23YTGFLT4:4:2385:11234:20211,LH00995:48:23YTGFLT4:4:2401:14365:20813,LH00995:48:23YTGFLT4:4:2459:48990:14620,LH00995:48:23YTGFLT4:5:1149:42275:13163,LH00995:48:23YTGFLT4:5:1204:25998:2401,LH00995:48:23YTGFLT4:5:1204:38521:7109,LH00995:48:23YTGFLT4:5:2271:40285:17170,LH00995:48:23YTGFLT4:5:2335:50899:8342,LH00995:48:23YTGFLT4:6:1201:29323:22004,LH00995:48:23YTGFLT4:6:1239:52064:4783,LH00995:48:23YTGFLT4:6:1262:34533:23125,LH00995:48:23YTGFLT4:6:1267:45228:9169,LH00995:48:23YTGFLT4:6:1284:41644:28016,LH00995:48:23YTGFLT4:6:1413:34824:22845,LH00995:48:23YTGFLT4:6:2324:41992:17436,LH00995:48:23YTGFLT4:6:2407:14785:4811,LH00995:48:23YTGFLT4:6:2451:30278:6086,LH00995:48:23YTGFLT4:6:2497:12957:2121,LH00995:48:23YTGFLT4:7:1235:16598:19440,LH00995:48:23YTGFLT4:7:1256:40592:6857,LH00995:48:23YTGFLT4:7:1271:5441:8637,LH00995:48:23YTGFLT4:7:1290:26969:1308,LH00995:48:23YTGFLT4:7:1369:34363:12098,LH00995:48:23YTGFLT4:7:1420:44621:13639,LH00995:48:23YTGFLT4:7:1480:47704:13737,LH00995:48:23YTGFLT4:7:2249:39662:22705,LH00995:48:23YTGFLT4:7:2329:39638:24989,LH00995:48:23YTGFLT4:7:2347:2432:22257,LH00995:48:23YTGFLT4:7:2352:32680:15685,LH00995:48:23YTGFLT4:7:2439:16719:5554,LH00995:48:23YTGFLT4:8:1279:51360:18922,LH00995:48:23YTGFLT4:8:1319:26071:29039,LH00995:48:23YTGFLT4:8:2129:20699:16512,LH00995:48:23YTGFLT4:8:2165:2634:18655,LH00995:48:23YTGFLT4:8:2207:2464:17745,LH00995:48:23YTGFLT4:8:2374:3670:16526,LH00995:48:23YTGFLT4:8:2458:13839:1266

NF1

+/+

chr17:31226511

chr17:31226448

CDS

duplication/ITD

963

1173

low

out-of-frame

|Divergent_CRAL/TRIO_domain(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%)

ENSG00000196712.18

ENST00000356175.7

downstream

upstream

duplicates(57)

GGGAAAAGGGAACTCCTCTATG___GATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACAT|GtTtCtGtGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCC

GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYm|flwnppdlptspdqtrsg

LH00995:48:23YTGFLT4:1:1106:39872:20939,LH00995:48:23YTGFLT4:1:1117:32559:11103,LH00995:48:23YTGFLT4:1:1336:18102:21514,LH00995:48:23YTGFLT4:1:2426:32438:19945,LH00995:48:23YTGFLT4:3:1285:5401:5092,LH00995:48:23YTGFLT4:3:1356:4398:29613,LH00995:48:23YTGFLT4:4:2140:22754:12812,LH00995:48:23YTGFLT4:4:2301:15942:26600,LH00995:48:23YTGFLT4:6:1123:30399:15937,LH00995:48:23YTGFLT4:6:1131:49192:21332,LH00995:48:23YTGFLT4:6:2350:3961:28464,LH00995:48:23YTGFLT4:7:2411:24008:8230,LH00995:48:23YTGFLT4:8:2321:40730:1546,LH00995:48:23YTGFLT4:1:1106:39872:20939,LH00995:48:23YTGFLT4:1:1117:32559:11103,LH00995:48:23YTGFLT4:1:1238:42089:5778,LH00995:48:23YTGFLT4:1:1336:18102:21514,LH00995:48:23YTGFLT4:1:1369:6364:11103,LH00995:48:23YTGFLT4:1:1369:6364:11103,LH00995:48:23YTGFLT4:1:1418:24930:6577,LH00995:48:23YTGFLT4:1:1418:24930:6577,LH00995:48:23YTGFLT4:1:1453:34201:24373,LH00995:48:23YTGFLT4:1:1453:34201:24373,LH00995:48:23YTGFLT4:1:2227:17455:14031,LH00995:48:23YTGFLT4:1:2227:17455:14031,LH00995:48:23YTGFLT4:1:2426:32438:19945,LH00995:48:23YTGFLT4:2:1270:22908:29725,LH00995:48:23YTGFLT4:2:1270:22908:29725,LH00995:48:23YTGFLT4:2:1490:34679:20323,LH00995:48:23YTGFLT4:2:1490:34679:20323,LH00995:48:23YTGFLT4:2:2412:16347:5218,LH00995:48:23YTGFLT4:2:2412:16347:5218,LH00995:48:23YTGFLT4:2:2415:38238:16708,LH00995:48:23YTGFLT4:2:2415:38238:16708,LH00995:48:23YTGFLT4:3:1134:28514:1799,LH00995:48:23YTGFLT4:3:1134:28514:1799,LH00995:48:23YTGFLT4:3:1285:5401:5092,LH00995:48:23YTGFLT4:3:1356:4398:29613,LH00995:48:23YTGFLT4:3:2398:1623:10823,LH00995:48:23YTGFLT4:3:2398:1623:10823,LH00995:48:23YTGFLT4:4:1493:20926:13709,LH00995:48:23YTGFLT4:4:1493:20926:13709,LH00995:48:23YTGFLT4:4:1493:20934:13723,LH00995:48:23YTGFLT4:4:1493:20934:13723,LH00995:48:23YTGFLT4:4:2140:22754:12812,LH00995:48:23YTGFLT4:4:2240:43804:18417,LH00995:48:23YTGFLT4:4:2240:43804:18417,LH00995:48:23YTGFLT4:4:2268:10724:23280,LH00995:48:23YTGFLT4:4:2301:15942:26600,LH00995:48:23YTGFLT4:4:2394:6153:8384,LH00995:48:23YTGFLT4:4:2394:6153:8384,LH00995:48:23YTGFLT4:5:1197:17811:24653,LH00995:48:23YTGFLT4:5:1197:17811:24653,LH00995:48:23YTGFLT4:5:1480:5247:3901,LH00995:48:23YTGFLT4:5:1480:5247:3901,LH00995:48:23YTGFLT4:5:1496:11080:28016,LH00995:48:23YTGFLT4:5:1496:11080:28016,LH00995:48:23YTGFLT4:5:2101:41110:1813,LH00995:48:23YTGFLT4:5:2101:41110:1813,LH00995:48:23YTGFLT4:5:2146:50147:3788,LH00995:48:23YTGFLT4:5:2234:19631:12224,LH00995:48:23YTGFLT4:5:2263:32098:24064,LH00995:48:23YTGFLT4:5:2263:32098:24064,LH00995:48:23YTGFLT4:6:1123:30399:15937,LH00995:48:23YTGFLT4:6:1131:49192:21332,LH00995:48:23YTGFLT4:6:1259:14963:28884,LH00995:48:23YTGFLT4:6:1259:14963:28884,LH00995:48:23YTGFLT4:6:2269:32640:1462,LH00995:48:23YTGFLT4:6:2269:32640:1462,LH00995:48:23YTGFLT4:6:2350:3961:28464,LH00995:48:23YTGFLT4:7:1156:31176:18992,LH00995:48:23YTGFLT4:7:1156:31176:18992,LH00995:48:23YTGFLT4:7:1156:31192:18992,LH00995:48:23YTGFLT4:7:1156:31192:18992,LH00995:48:23YTGFLT4:7:2397:50648:28086,LH00995:48:23YTGFLT4:7:2397:50648:28086,LH00995:48:23YTGFLT4:7:2411:24008:8230,LH00995:48:23YTGFLT4:8:1203:32915:6955,LH00995:48:23YTGFLT4:8:1203:32915:6955,LH00995:48:23YTGFLT4:8:1393:9308:29263,LH00995:48:23YTGFLT4:8:1393:9308:29263,LH00995:48:23YTGFLT4:8:2231:17479:17072,LH00995:48:23YTGFLT4:8:2231:17479:17072,LH00995:48:23YTGFLT4:8:2231:25917:17422,LH00995:48:23YTGFLT4:8:2231:25917:17422,LH00995:48:23YTGFLT4:8:2321:40730:1546,LH00995:48:23YTGFLT4:8:2322:9446:8539,LH00995:48:23YTGFLT4:8:2322:9446:8539

NPEPPSP1

FP671120.4

-/-

+/+

chr17:38257108

chr21:8214653

exon

intron

translocation

21566

9449

low

ENSG00000274487.2

ENSG00000278996.1

ENST00000649858.1

upstream

duplicates(77),mismatches(11)

CCCCCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LH00995:48:23YTGFLT4:1:1125:11687:26264,LH00995:48:23YTGFLT4:1:1157:25157:3494,LH00995:48:23YTGFLT4:1:1211:23741:24022,LH00995:48:23YTGFLT4:1:1217:1421:8707,LH00995:48:23YTGFLT4:1:1277:7626:6535,LH00995:48:23YTGFLT4:1:1316:5676:11397,LH00995:48:23YTGFLT4:1:1318:49977:1981,LH00995:48:23YTGFLT4:1:1334:43553:17226,LH00995:48:23YTGFLT4:1:1366:9883:3102,LH00995:48:23YTGFLT4:1:1408:4155:16189,LH00995:48:23YTGFLT4:1:2107:34476:5484,LH00995:48:23YTGFLT4:1:2117:28999:9393,LH00995:48:23YTGFLT4:1:2213:45422:23518,LH00995:48:23YTGFLT4:1:2463:13717:3550,LH00995:48:23YTGFLT4:2:1136:22762:7249,LH00995:48:23YTGFLT4:2:1206:26484:20393,LH00995:48:23YTGFLT4:2:1421:20578:23952,LH00995:48:23YTGFLT4:2:1428:35132:24611,LH00995:48:23YTGFLT4:2:2107:21225:6100,LH00995:48:23YTGFLT4:2:2253:33473:4279,LH00995:48:23YTGFLT4:2:2262:9195:14690,LH00995:48:23YTGFLT4:2:2372:47922:27455,LH00995:48:23YTGFLT4:2:2424:39856:23574,LH00995:48:23YTGFLT4:2:2428:12609:29123,LH00995:48:23YTGFLT4:2:2433:38780:11733,LH00995:48:23YTGFLT4:2:2473:6501:14228,LH00995:48:23YTGFLT4:3:1130:39897:14116,LH00995:48:23YTGFLT4:3:1146:26152:25199,LH00995:48:23YTGFLT4:3:1165:40398:22355,LH00995:48:23YTGFLT4:3:1201:24332:28408,LH00995:48:23YTGFLT4:3:1359:47704:29011,LH00995:48:23YTGFLT4:3:1401:17156:25732,LH00995:48:23YTGFLT4:3:1477:11501:16105,LH00995:48:23YTGFLT4:3:2143:45050:3256,LH00995:48:23YTGFLT4:3:2152:20125:27988,LH00995:48:23YTGFLT4:3:2216:43424:8679,LH00995:48:23YTGFLT4:3:2234:36604:26264,LH00995:48:23YTGFLT4:3:2267:33279:28380,LH00995:48:23YTGFLT4:3:2272:17949:2415,LH00995:48:23YTGFLT4:3:2279:40487:10458,LH00995:48:23YTGFLT4:3:2367:22358:20029,LH00995:48:23YTGFLT4:3:2377:11048:23756,LH00995:48:23YTGFLT4:4:1106:48496:27329,LH00995:48:23YTGFLT4:4:1313:10854:2121,LH00995:48:23YTGFLT4:4:1375:38861:20813,LH00995:48:23YTGFLT4:4:1383:15368:22859,LH00995:48:23YTGFLT4:4:1402:50915:15321,LH00995:48:23YTGFLT4:4:2125:11598:24316,LH00995:48:23YTGFLT4:4:2129:8694:20715,LH00995:48:23YTGFLT4:4:2262:47469:10360,LH00995:48:23YTGFLT4:4:2308:18725:16203,LH00995:48:23YTGFLT4:4:2375:34719:19664,LH00995:48:23YTGFLT4:4:2406:10700:22929,LH00995:48:23YTGFLT4:4:2469:10223:2233,LH00995:48:23YTGFLT4:4:2488:27325:4559,LH00995:48:23YTGFLT4:5:1236:11768:18810,LH00995:48:23YTGFLT4:5:1254:14462:29193,LH00995:48:23YTGFLT4:5:1254:43958:3606,LH00995:48:23YTGFLT4:5:1261:33036:23756,LH00995:48:23YTGFLT4:5:1307:12099:15601,LH00995:48:23YTGFLT4:5:1339:10748:13009,LH00995:48:23YTGFLT4:5:1394:9681:25620,LH00995:48:23YTGFLT4:5:1456:30488:9449,LH00995:48:23YTGFLT4:5:1481:39484:16820,LH00995:48:23YTGFLT4:5:2109:46077:23280,LH00995:48:23YTGFLT4:5:2273:16080:3830,LH00995:48:23YTGFLT4:5:2325:45139:11789,LH00995:48:23YTGFLT4:5:2334:31435:12602,LH00995:48:23YTGFLT4:5:2416:29080:17128,LH00995:48:23YTGFLT4:5:2418:3217:8875,LH00995:48:23YTGFLT4:5:2440:16298:9085,LH00995:48:23YTGFLT4:6:1108:14866:9716,LH00995:48:23YTGFLT4:6:1195:39816:11453,LH00995:48:23YTGFLT4:6:1265:12763:28408,LH00995:48:23YTGFLT4:6:1289:40568:20211,LH00995:48:23YTGFLT4:6:1293:2675:9730,LH00995:48:23YTGFLT4:6:1307:9422:24330,LH00995:48:23YTGFLT4:6:1395:15109:17535,LH00995:48:23YTGFLT4:6:1470:38667:21514,LH00995:48:23YTGFLT4:6:2116:42542:12448,LH00995:48:23YTGFLT4:6:2132:2974:7866,LH00995:48:23YTGFLT4:6:2142:39751:6437,LH00995:48:23YTGFLT4:7:1202:12334:16624,LH00995:48:23YTGFLT4:7:1342:32163:20365,LH00995:48:23YTGFLT4:7:1396:6331:20295,LH00995:48:23YTGFLT4:7:1432:35925:11215,LH00995:48:23YTGFLT4:7:1477:39379:6241,LH00995:48:23YTGFLT4:7:2108:38190:24302,LH00995:48:23YTGFLT4:7:2152:47946:6759,LH00995:48:23YTGFLT4:7:2159:38287:28842,LH00995:48:23YTGFLT4:7:2176:49152:13667,LH00995:48:23YTGFLT4:7:2245:27762:10949,LH00995:48:23YTGFLT4:7:2270:38554:8875,LH00995:48:23YTGFLT4:7:2285:41126:19300,LH00995:48:23YTGFLT4:7:2444:19105:23588,LH00995:48:23YTGFLT4:7:2474:8257:24274,LH00995:48:23YTGFLT4:7:2477:38012:10823,LH00995:48:23YTGFLT4:8:1103:16962:26488,LH00995:48:23YTGFLT4:8:1174:33166:2289,LH00995:48:23YTGFLT4:8:1186:50090:19384,LH00995:48:23YTGFLT4:8:1191:9414:19580,LH00995:48:23YTGFLT4:8:1338:17585:29221,LH00995:48:23YTGFLT4:8:1341:45317:4951,LH00995:48:23YTGFLT4:8:1362:45147:14690,LH00995:48:23YTGFLT4:8:1421:20643:2065,LH00995:48:23YTGFLT4:8:1447:17754:22929,LH00995:48:23YTGFLT4:8:1447:17762:22915,LH00995:48:23YTGFLT4:8:2110:25286:2093,LH00995:48:23YTGFLT4:8:2208:1849:21724,LH00995:48:23YTGFLT4:8:2278:13459:23139,LH00995:48:23YTGFLT4:8:2360:51012:11930,LH00995:48:23YTGFLT4:8:2371:26953:27932,LH00995:48:23YTGFLT4:8:2404:6728:29361,LH00995:48:23YTGFLT4:8:2449:4414:24008,LH00995:48:23YTGFLT4:8:2490:48124:25760

KIAA1522

FP671120.4

+/+

chr1:32771283

chr21:8214654

CDS

intron

translocation

18886

9449

low

out-of-frame

ENSG00000162522.11

ENSG00000278996.1

ENST00000401073.7

downstream

upstream

duplicates(130),mismatches(18)

TACCTCCTCACCCCAAGGTGCCTGCCCCCTTCTCCCCACCTCCCTCCAAGCCCAGGAGCCCTAACCCAGCTGCCCCTGCTCTAGCCGCCCCTGCTGTGGTTCCTGGGCCTGTTTCTACCACTGACG|TCCGTCCGTCCGTCCGTCCTCCTCCTCCC

PPHPKVPAPFSPPPSKPRSPNPAAPALAAPAVVPGPVSTTD|vrpsvrppp

LH00995:48:23YTGFLT4:1:1125:26257:24653,LH00995:48:23YTGFLT4:1:1130:25723:29389,LH00995:48:23YTGFLT4:1:1178:16767:5414,LH00995:48:23YTGFLT4:1:1186:47323:28380,LH00995:48:23YTGFLT4:1:1213:3500:12756,LH00995:48:23YTGFLT4:1:1267:30059:17843,LH00995:48:23YTGFLT4:1:1277:9495:20757,LH00995:48:23YTGFLT4:1:1277:9503:20743,LH00995:48:23YTGFLT4:1:1279:44597:20379,LH00995:48:23YTGFLT4:1:1306:48796:21262,LH00995:48:23YTGFLT4:1:1320:13119:4671,LH00995:48:23YTGFLT4:1:1385:7521:6100,LH00995:48:23YTGFLT4:1:1420:48019:17731,LH00995:48:23YTGFLT4:1:1456:47663:27511,LH00995:48:23YTGFLT4:1:1476:36936:8483,LH00995:48:23YTGFLT4:1:1484:6428:3536,LH00995:48:23YTGFLT4:1:2111:2836:22425,LH00995:48:23YTGFLT4:1:2193:39533:1350,LH00995:48:23YTGFLT4:1:2230:28223:19174,LH00995:48:23YTGFLT4:1:2325:25286:28016,LH00995:48:23YTGFLT4:1:2336:20489:25115,LH00995:48:23YTGFLT4:1:2387:6275:21878,LH00995:48:23YTGFLT4:1:2464:6000:26446,LH00995:48:23YTGFLT4:2:1148:15902:9576,LH00995:48:23YTGFLT4:2:1148:15918:9576,LH00995:48:23YTGFLT4:2:1216:24040:13891,LH00995:48:23YTGFLT4:2:1238:26937:13891,LH00995:48:23YTGFLT4:2:1242:9373:19931,LH00995:48:23YTGFLT4:2:1256:38894:12406,LH00995:48:23YTGFLT4:2:1272:40957:28758,LH00995:48:23YTGFLT4:2:1287:18216:12546,LH00995:48:23YTGFLT4:2:1364:4382:3634,LH00995:48:23YTGFLT4:2:1373:11655:4601,LH00995:48:23YTGFLT4:2:1454:33522:18740,LH00995:48:23YTGFLT4:2:2122:23417:11327,LH00995:48:23YTGFLT4:2:2147:29533:22929,LH00995:48:23YTGFLT4:2:2149:14227:6255,LH00995:48:23YTGFLT4:2:2171:45730:27301,LH00995:48:23YTGFLT4:2:2183:6744:18039,LH00995:48:23YTGFLT4:2:2188:9786:9884,LH00995:48:23YTGFLT4:2:2253:39403:22509,LH00995:48:23YTGFLT4:2:2257:17455:26895,LH00995:48:23YTGFLT4:2:2272:43893:9519,LH00995:48:23YTGFLT4:2:2275:31443:16091,LH00995:48:23YTGFLT4:2:2278:16776:24457,LH00995:48:23YTGFLT4:2:2364:37195:18347,LH00995:48:23YTGFLT4:2:2367:39282:28464,LH00995:48:23YTGFLT4:2:2398:27034:12714,LH00995:48:23YTGFLT4:2:2417:27770:10150,LH00995:48:23YTGFLT4:2:2441:28991:4531,LH00995:48:23YTGFLT4:2:2482:49815:24344,LH00995:48:23YTGFLT4:3:1107:46814:3480,LH00995:48:23YTGFLT4:3:1135:8362:10921,LH00995:48:23YTGFLT4:3:1158:16816:3704,LH00995:48:23YTGFLT4:3:1161:21816:16512,LH00995:48:23YTGFLT4:3:1173:1437:18543,LH00995:48:23YTGFLT4:3:1173:1453:18543,LH00995:48:23YTGFLT4:3:1174:21346:27441,LH00995:48:23YTGFLT4:3:1191:49904:23854,LH00995:48:23YTGFLT4:3:1219:51360:3816,LH00995:48:23YTGFLT4:3:1220:4770:21066,LH00995:48:23YTGFLT4:3:1267:34792:10066,LH00995:48:23YTGFLT4:3:1288:36248:18557,LH00995:48:23YTGFLT4:3:1296:9875:29543,LH00995:48:23YTGFLT4:3:1303:38076:2583,LH00995:48:23YTGFLT4:3:1331:11517:19861,LH00995:48:23YTGFLT4:3:1412:7569:28716,LH00995:48:23YTGFLT4:3:1427:9915:6325,LH00995:48:23YTGFLT4:3:1472:26742:27091,LH00995:48:23YTGFLT4:3:1487:21751:15222,LH00995:48:23YTGFLT4:3:2134:21662:23364,LH00995:48:23YTGFLT4:3:2144:25521:20687,LH00995:48:23YTGFLT4:3:2266:46320:13023,LH00995:48:23YTGFLT4:3:2272:17981:9337,LH00995:48:23YTGFLT4:3:2296:33336:8356,LH00995:48:23YTGFLT4:3:2402:19494:20897,LH00995:48:23YTGFLT4:3:2429:24647:18333,LH00995:48:23YTGFLT4:3:2456:34145:16371,LH00995:48:23YTGFLT4:4:1101:27309:18543,LH00995:48:23YTGFLT4:4:1101:46838:28828,LH00995:48:23YTGFLT4:4:1114:45827:27329,LH00995:48:23YTGFLT4:4:1209:36483:18207,LH00995:48:23YTGFLT4:4:1247:22026:11803,LH00995:48:23YTGFLT4:4:1311:41490:18305,LH00995:48:23YTGFLT4:4:1318:2375:26502,LH00995:48:23YTGFLT4:4:1384:31143:25241,LH00995:48:23YTGFLT4:4:1402:12933:9870,LH00995:48:23YTGFLT4:4:1425:41385:25718,LH00995:48:23YTGFLT4:4:1426:29420:8441,LH00995:48:23YTGFLT4:4:1460:21306:1252,LH00995:48:23YTGFLT4:4:2120:8297:14564,LH00995:48:23YTGFLT4:4:2144:14308:17184,LH00995:48:23YTGFLT4:4:2179:24202:17394,LH00995:48:23YTGFLT4:4:2230:17131:14031,LH00995:48:23YTGFLT4:4:2249:7788:25479,LH00995:48:23YTGFLT4:4:2269:12569:10893,LH00995:48:23YTGFLT4:4:2308:40779:11944,LH00995:48:23YTGFLT4:4:2477:34533:20827,LH00995:48:23YTGFLT4:4:2485:18644:20295,LH00995:48:23YTGFLT4:4:2490:11614:17310,LH00995:48:23YTGFLT4:4:2493:22042:1126,LH00995:48:23YTGFLT4:5:1172:46700:13849,LH00995:48:23YTGFLT4:5:1242:24057:16414,LH00995:48:23YTGFLT4:5:1313:30262:24639,LH00995:48:23YTGFLT4:5:1393:44710:7460,LH00995:48:23YTGFLT4:5:1431:29453:11439,LH00995:48:23YTGFLT4:5:2148:6501:11874,LH00995:48:23YTGFLT4:5:2331:45220:12210,LH00995:48:23YTGFLT4:5:2379:33991:29557,LH00995:48:23YTGFLT4:5:2389:32947:14382,LH00995:48:23YTGFLT4:5:2393:4543:18095,LH00995:48:23YTGFLT4:5:2437:19065:7404,LH00995:48:23YTGFLT4:6:1187:39136:3130,LH00995:48:23YTGFLT4:6:1250:7205:17380,LH00995:48:23YTGFLT4:6:1286:46951:2373,LH00995:48:23YTGFLT4:6:1296:13297:28941,LH00995:48:23YTGFLT4:6:1340:1388:22271,LH00995:48:23YTGFLT4:6:1340:1396:22285,LH00995:48:23YTGFLT4:6:1340:44516:19875,LH00995:48:23YTGFLT4:6:1397:49928:12378,LH00995:48:23YTGFLT4:6:1428:8499:23714,LH00995:48:23YTGFLT4:6:1428:9697:21612,LH00995:48:23YTGFLT4:6:1462:43448:26825,LH00995:48:23YTGFLT4:6:2108:40463:10865,LH00995:48:23YTGFLT4:6:2203:6064:15601,LH00995:48:23YTGFLT4:6:2212:13677:28534,LH00995:48:23YTGFLT4:6:2242:16589:23910,LH00995:48:23YTGFLT4:6:2325:11598:20281,LH00995:48:23YTGFLT4:6:2339:38174:9870,LH00995:48:23YTGFLT4:6:2444:8863:21570,LH00995:48:23YTGFLT4:6:2444:8872:21584,LH00995:48:23YTGFLT4:6:2469:13159:12000,LH00995:48:23YTGFLT4:7:1240:41337:12910,LH00995:48:23YTGFLT4:7:1431:26597:22579,LH00995:48:23YTGFLT4:7:2103:46789:27595,LH00995:48:23YTGFLT4:7:2209:31532:12910,LH00995:48:23YTGFLT4:7:2250:35091:28240,LH00995:48:23YTGFLT4:7:2270:12148:10108,LH00995:48:23YTGFLT4:7:2310:33635:19664,LH00995:48:23YTGFLT4:7:2475:28886:25087,LH00995:48:23YTGFLT4:7:2478:35941:13597,LH00995:48:23YTGFLT4:7:2492:44144:17520,LH00995:48:23YTGFLT4:7:2494:23822:2051,LH00995:48:23YTGFLT4:8:1228:38036:13751,LH00995:48:23YTGFLT4:8:1228:38044:13765,LH00995:48:23YTGFLT4:8:1233:14324:20659,LH00995:48:23YTGFLT4:8:1284:13143:9898,LH00995:48:23YTGFLT4:8:1294:24429:4867,LH00995:48:23YTGFLT4:8:1314:26904:23167,LH00995:48:23YTGFLT4:8:1314:26920:23167,LH00995:48:23YTGFLT4:8:1318:47024:1210,LH00995:48:23YTGFLT4:8:1339:52145:7306,LH00995:48:23YTGFLT4:8:1369:5393:18473,LH00995:48:23YTGFLT4:8:1413:28603:24989,LH00995:48:23YTGFLT4:8:1454:18167:19384,LH00995:48:23YTGFLT4:8:1468:11266:10262,LH00995:48:23YTGFLT4:8:1470:4422:22929,LH00995:48:23YTGFLT4:8:1475:18458:23308,LH00995:48:23YTGFLT4:8:2136:16776:19048,LH00995:48:23YTGFLT4:8:2147:49694:24583,LH00995:48:23YTGFLT4:8:2165:1275:15545,LH00995:48:23YTGFLT4:8:2235:19138:16161,LH00995:48:23YTGFLT4:8:2257:23919:18389,LH00995:48:23YTGFLT4:8:2336:22074:11803,LH00995:48:23YTGFLT4:8:2355:29186:2878,LH00995:48:23YTGFLT4:8:2393:38360:9856,LH00995:48:23YTGFLT4:8:2406:19170:18179,LH00995:48:23YTGFLT4:8:2406:48335:23798,LH00995:48:23YTGFLT4:8:2421:18523:29137,LH00995:48:23YTGFLT4:8:2440:37898:17549,LH00995:48:23YTGFLT4:8:2447:50470:28814,LH00995:48:23YTGFLT4:8:2457:48812:18431,LH00995:48:23YTGFLT4:8:2466:29258:17436

DIAPH1

FP671120.4

-/-

+/+

chr5:141574025

chr21:8214653

CDS

intron

translocation

6325

9449

low

out-of-frame

Diaphanous_FH3_Domain(100%),Diaphanous_GTPase-binding_Domain(100%)|

ENSG00000131504.17

ENSG00000278996.1

ENST00000647433.1

upstream

duplicates(73),mismatches(9)

TGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

AAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTP|rpsvrpssss

LH00995:48:23YTGFLT4:1:1192:49386:15951,LH00995:48:23YTGFLT4:1:1208:23765:1224,LH00995:48:23YTGFLT4:1:1284:18612:20435,LH00995:48:23YTGFLT4:1:2119:26119:26012,LH00995:48:23YTGFLT4:1:2262:41855:25914,LH00995:48:23YTGFLT4:1:2285:43828:27511,LH00995:48:23YTGFLT4:2:1179:37154:14858,LH00995:48:23YTGFLT4:2:1180:32235:11439,LH00995:48:23YTGFLT4:2:1183:23798:15040,LH00995:48:23YTGFLT4:2:1315:1299:15727,LH00995:48:23YTGFLT4:2:1318:14785:28941,LH00995:48:23YTGFLT4:2:1380:18434:13653,LH00995:48:23YTGFLT4:2:1397:40439:23490,LH00995:48:23YTGFLT4:2:1473:29177:9870,LH00995:48:23YTGFLT4:2:1491:33271:12056,LH00995:48:23YTGFLT4:2:2112:16314:6114,LH00995:48:23YTGFLT4:2:2134:30456:6759,LH00995:48:23YTGFLT4:2:2194:48027:20911,LH00995:48:23YTGFLT4:2:2205:36523:21556,LH00995:48:23YTGFLT4:2:2231:23110:28422,LH00995:48:23YTGFLT4:2:2325:3500:28562,LH00995:48:23YTGFLT4:2:2366:22948:2275,LH00995:48:23YTGFLT4:2:2446:16298:7740,LH00995:48:23YTGFLT4:2:2464:24679:15671,LH00995:48:23YTGFLT4:3:1246:47962:25564,LH00995:48:23YTGFLT4:3:1246:47979:25564,LH00995:48:23YTGFLT4:3:1305:10417:13723,LH00995:48:23YTGFLT4:3:2111:30747:28814,LH00995:48:23YTGFLT4:3:2194:28190:1322,LH00995:48:23YTGFLT4:3:2258:38999:21416,LH00995:48:23YTGFLT4:3:2341:12997:17492,LH00995:48:23YTGFLT4:3:2357:2602:7894,LH00995:48:23YTGFLT4:3:2476:3912:24401,LH00995:48:23YTGFLT4:4:1122:44524:12658,LH00995:48:23YTGFLT4:4:1304:49912:23139,LH00995:48:23YTGFLT4:4:1314:36434:27315,LH00995:48:23YTGFLT4:4:1333:52194:8034,LH00995:48:23YTGFLT4:4:1343:6291:10444,LH00995:48:23YTGFLT4:4:1348:8508:26110,LH00995:48:23YTGFLT4:4:1404:12188:10682,LH00995:48:23YTGFLT4:4:1430:27964:4461,LH00995:48:23YTGFLT4:4:1432:30771:15853,LH00995:48:23YTGFLT4:4:1432:30787:15853,LH00995:48:23YTGFLT4:4:1450:13742:2163,LH00995:48:23YTGFLT4:4:1479:1979:26741,LH00995:48:23YTGFLT4:4:2120:32308:12658,LH00995:48:23YTGFLT4:4:2227:42032:6885,LH00995:48:23YTGFLT4:4:2237:43990:22187,LH00995:48:23YTGFLT4:4:2269:22851:2107,LH00995:48:23YTGFLT4:4:2272:25747:16680,LH00995:48:23YTGFLT4:4:2405:17212:4671,LH00995:48:23YTGFLT4:4:2451:9017:3648,LH00995:48:23YTGFLT4:5:1132:46668:5050,LH00995:48:23YTGFLT4:5:1171:11412:26909,LH00995:48:23YTGFLT4:5:1222:2569:20449,LH00995:48:23YTGFLT4:5:1222:2578:20463,LH00995:48:23YTGFLT4:5:1476:30860:26628,LH00995:48:23YTGFLT4:5:1490:27309:8427,LH00995:48:23YTGFLT4:5:2125:21613:3859,LH00995:48:23YTGFLT4:5:2156:24105:22579,LH00995:48:23YTGFLT4:5:2284:29889:4041,LH00995:48:23YTGFLT4:5:2303:11080:28240,LH00995:48:23YTGFLT4:5:2333:35674:20421,LH00995:48:23YTGFLT4:5:2435:21007:8244,LH00995:48:23YTGFLT4:6:1128:25683:13485,LH00995:48:23YTGFLT4:6:1146:1777:2345,LH00995:48:23YTGFLT4:6:1164:15894:9449,LH00995:48:23YTGFLT4:6:1176:51506:20659,LH00995:48:23YTGFLT4:6:1236:9600:9926,LH00995:48:23YTGFLT4:6:1246:15174:3859,LH00995:48:23YTGFLT4:6:1277:33700:3270,LH00995:48:23YTGFLT4:6:1318:17673:27021,LH00995:48:23YTGFLT4:6:1369:6105:9365,LH00995:48:23YTGFLT4:6:1391:32227:1560,LH00995:48:23YTGFLT4:6:1412:28134:23252,LH00995:48:23YTGFLT4:6:2183:45980:5344,LH00995:48:23YTGFLT4:6:2187:17892:9604,LH00995:48:23YTGFLT4:6:2354:43206:27665,LH00995:48:23YTGFLT4:6:2375:37575:21052,LH00995:48:23YTGFLT4:6:2378:9664:26460,LH00995:48:23YTGFLT4:6:2393:42647:12210,LH00995:48:23YTGFLT4:7:1173:12116:16021,LH00995:48:23YTGFLT4:7:1173:12124:16035,LH00995:48:23YTGFLT4:7:1248:40641:6016,LH00995:48:23YTGFLT4:7:1353:25763:17268,LH00995:48:23YTGFLT4:7:1437:46158:7334,LH00995:48:23YTGFLT4:7:1449:43092:23658,LH00995:48:23YTGFLT4:7:2160:34072:10837,LH00995:48:23YTGFLT4:7:2242:18798:22243,LH00995:48:23YTGFLT4:7:2251:19575:3662,LH00995:48:23YTGFLT4:7:2263:6558:4713,LH00995:48:23YTGFLT4:7:2324:12917:7880,LH00995:48:23YTGFLT4:7:2324:12925:7866,LH00995:48:23YTGFLT4:7:2347:9915:5176,LH00995:48:23YTGFLT4:7:2411:13095:11411,LH00995:48:23YTGFLT4:7:2457:39144:20687,LH00995:48:23YTGFLT4:8:1168:45010:2794,LH00995:48:23YTGFLT4:8:1198:9640:1168,LH00995:48:23YTGFLT4:8:1204:41094:24541,LH00995:48:23YTGFLT4:8:1363:40293:12981,LH00995:48:23YTGFLT4:8:2179:49354:17997,LH00995:48:23YTGFLT4:8:2208:7076:14774,LH00995:48:23YTGFLT4:8:2388:2561:18417,LH00995:48:23YTGFLT4:8:2388:6097:12995

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

7776

low

out-of-frame

WWE_domain(100%)|Deltex_C-terminal_domain(100%),WWE_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000091073.19

ENST00000324432.9

downstream

upstream

duplicates(61),mismatches(5)

CCCCAGGATCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGCGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAG

PGSSTSGAVSASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyq

LH00995:48:23YTGFLT4:1:2345:21160:18375,LH00995:48:23YTGFLT4:2:1341:2958:22018,LH00995:48:23YTGFLT4:2:2309:31855:17647,LH00995:48:23YTGFLT4:4:2243:25327:9702,LH00995:48:23YTGFLT4:5:1180:18086:22299,LH00995:48:23YTGFLT4:5:1401:50665:13093,LH00995:48:23YTGFLT4:5:2348:4907:29179,LH00995:48:23YTGFLT4:6:2390:45786:20673,LH00995:48:23YTGFLT4:7:1230:4196:16119,LH00995:48:23YTGFLT4:7:2193:34420:29711,LH00995:48:23YTGFLT4:8:2245:25343:20211,LH00995:48:23YTGFLT4:1:1463:35010:17619,LH00995:48:23YTGFLT4:1:2173:11922:5456,LH00995:48:23YTGFLT4:1:2181:50851:4951,LH00995:48:23YTGFLT4:1:2479:22811:27960,LH00995:48:23YTGFLT4:2:1133:34897:12266,LH00995:48:23YTGFLT4:2:1340:30221:20813,LH00995:48:23YTGFLT4:2:1344:14737:22523,LH00995:48:23YTGFLT4:2:1360:1785:18109,LH00995:48:23YTGFLT4:2:1360:1801:18109,LH00995:48:23YTGFLT4:2:1420:33109:20491,LH00995:48:23YTGFLT4:2:1428:4746:22004,LH00995:48:23YTGFLT4:2:1459:47372:28744,LH00995:48:23YTGFLT4:2:1488:48682:25493,LH00995:48:23YTGFLT4:2:2124:43303:10038,LH00995:48:23YTGFLT4:2:2150:33012:19370,LH00995:48:23YTGFLT4:2:2158:4972:27609,LH00995:48:23YTGFLT4:2:2230:3856:3985,LH00995:48:23YTGFLT4:2:2306:41919:27707,LH00995:48:23YTGFLT4:3:1196:33853:14410,LH00995:48:23YTGFLT4:3:1225:32389:21598,LH00995:48:23YTGFLT4:3:1229:2545:11551,LH00995:48:23YTGFLT4:3:1269:46458:24050,LH00995:48:23YTGFLT4:3:1409:47946:13821,LH00995:48:23YTGFLT4:3:1475:15627:22046,LH00995:48:23YTGFLT4:3:2106:14446:20449,LH00995:48:23YTGFLT4:3:2309:46450:17282,LH00995:48:23YTGFLT4:3:2469:28724:13793,LH00995:48:23YTGFLT4:3:2494:9406:12868,LH00995:48:23YTGFLT4:4:1231:11557:21080,LH00995:48:23YTGFLT4:4:1460:11388:4587,LH00995:48:23YTGFLT4:4:2189:8669:26755,LH00995:48:23YTGFLT4:4:2242:15522:25984,LH00995:48:23YTGFLT4:4:2398:17843:21542,LH00995:48:23YTGFLT4:4:2398:17860:21542,LH00995:48:23YTGFLT4:4:2409:46506:19875,LH00995:48:23YTGFLT4:4:2444:2060:29487,LH00995:48:23YTGFLT4:4:2455:5919:21038,LH00995:48:23YTGFLT4:5:1239:10352:4811,LH00995:48:23YTGFLT4:5:1289:10425:15923,LH00995:48:23YTGFLT4:5:1309:40827:13317,LH00995:48:23YTGFLT4:5:1438:2780:2149,LH00995:48:23YTGFLT4:5:1445:24485:4517,LH00995:48:23YTGFLT4:5:1450:50624:9968,LH00995:48:23YTGFLT4:5:2105:16541:7404,LH00995:48:23YTGFLT4:5:2192:46522:12056,LH00995:48:23YTGFLT4:5:2236:11477:23041,LH00995:48:23YTGFLT4:5:2344:8710:20883,LH00995:48:23YTGFLT4:5:2398:3241:11215,LH00995:48:23YTGFLT4:5:2413:45171:9323,LH00995:48:23YTGFLT4:6:1117:42437:26895,LH00995:48:23YTGFLT4:6:1204:30642:19272,LH00995:48:23YTGFLT4:6:1224:2909:9155,LH00995:48:23YTGFLT4:6:1224:2925:9155,LH00995:48:23YTGFLT4:6:1293:25189:12686,LH00995:48:23YTGFLT4:6:1406:47890:6016,LH00995:48:23YTGFLT4:6:2210:4924:4461,LH00995:48:23YTGFLT4:6:2241:24243:16540,LH00995:48:23YTGFLT4:7:1152:18353:12812,LH00995:48:23YTGFLT4:7:1222:46239:1504,LH00995:48:23YTGFLT4:7:1370:37025:9421,LH00995:48:23YTGFLT4:7:1378:18321:24555,LH00995:48:23YTGFLT4:7:1378:18337:24555,LH00995:48:23YTGFLT4:7:2116:14243:12924,LH00995:48:23YTGFLT4:7:2193:20513:20617,LH00995:48:23YTGFLT4:7:2270:17075:13261,LH00995:48:23YTGFLT4:7:2341:32090:28926,LH00995:48:23YTGFLT4:7:2346:31944:25423,LH00995:48:23YTGFLT4:8:1225:19963:27679,LH00995:48:23YTGFLT4:8:1233:51846:29711,LH00995:48:23YTGFLT4:8:1252:33886:14298,LH00995:48:23YTGFLT4:8:1267:40698:10570,LH00995:48:23YTGFLT4:8:1267:40714:10570,LH00995:48:23YTGFLT4:8:2123:37850:21752,LH00995:48:23YTGFLT4:8:2193:46385:12434,LH00995:48:23YTGFLT4:8:2442:38699:21122

KRT6A

FP236383.3

-/-

+/+

chr12:52493075

chr21:8399952

CDS

intron

translocation

65535

16407

low

out-of-frame

Keratin_type_II_head(15%)|

ENSG00000205420.11

ENSG00000280441.3

ENST00000330722.7

upstream

duplicates(21),mismatches(1)

CCTCCAGCCTCTCACACTCTCCTCAGCTtTCTCATCTCCTGGAACCATGGCCAGCACATCCACCACCATCAGGAGCCACAGCAGCAGCCGCCGGGGTTTCAGTGCCAACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCGTCTCCGTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSV|pralslsls

LH00995:48:23YTGFLT4:1:1245:38028:18669,LH00995:48:23YTGFLT4:1:1364:41450:10136,LH00995:48:23YTGFLT4:1:1364:41458:10122,LH00995:48:23YTGFLT4:1:2249:36038:17549,LH00995:48:23YTGFLT4:1:2249:36046:17563,LH00995:48:23YTGFLT4:1:2268:26168:14690,LH00995:48:23YTGFLT4:1:2384:47946:8104,LH00995:48:23YTGFLT4:1:2433:27009:26657,LH00995:48:23YTGFLT4:2:1396:4641:27679,LH00995:48:23YTGFLT4:2:1406:32786:8328,LH00995:48:23YTGFLT4:2:2174:32373:11593,LH00995:48:23YTGFLT4:2:2201:50373:2107,LH00995:48:23YTGFLT4:2:2232:10951:17647,LH00995:48:23YTGFLT4:3:1217:36167:1546,LH00995:48:23YTGFLT4:3:1362:9179:21080,LH00995:48:23YTGFLT4:3:1483:26937:17871,LH00995:48:23YTGFLT4:3:2409:19138:23924,LH00995:48:23YTGFLT4:4:1159:24121:23616,LH00995:48:23YTGFLT4:4:1217:39605:9604,LH00995:48:23YTGFLT4:4:2201:27964:4153,LH00995:48:23YTGFLT4:4:2202:30585:23574,LH00995:48:23YTGFLT4:4:2323:49661:24499,LH00995:48:23YTGFLT4:4:2372:46717:23574,LH00995:48:23YTGFLT4:5:1114:19105:6913,LH00995:48:23YTGFLT4:5:2190:39630:14662,LH00995:48:23YTGFLT4:5:2439:3654:9996,LH00995:48:23YTGFLT4:6:1328:43739:5722,LH00995:48:23YTGFLT4:6:2188:24946:12378,LH00995:48:23YTGFLT4:6:2278:21670:4265,LH00995:48:23YTGFLT4:6:2308:27487:10725,LH00995:48:23YTGFLT4:7:1125:34307:20771,LH00995:48:23YTGFLT4:7:2184:14640:7866,LH00995:48:23YTGFLT4:8:1202:38109:26236,LH00995:48:23YTGFLT4:8:1259:30092:5120,LH00995:48:23YTGFLT4:8:1467:27584:9407,LH00995:48:23YTGFLT4:8:2442:38813:11677,LH00995:48:23YTGFLT4:8:2442:38821:11691

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

12398

16407

low

out-of-frame

Transducer_of_regulated_CREB_activity__N_terminus(100%),Transducer_of_regulated_CREB_activity_middle_domain(100%)|

ENSG00000160741.17

ENSG00000280441.3

ENST00000368633.2

upstream

duplicates(103),mismatches(1),multimappers(2)

CAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

NLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1276:12286:3620,LH00995:48:23YTGFLT4:1:1291:27050:13555,LH00995:48:23YTGFLT4:1:1358:2934:4853,LH00995:48:23YTGFLT4:1:1371:12585:16610,LH00995:48:23YTGFLT4:1:2256:41143:7193,LH00995:48:23YTGFLT4:1:2329:8993:15152,LH00995:48:23YTGFLT4:1:2332:37437:1729,LH00995:48:23YTGFLT4:1:2345:6307:16834,LH00995:48:23YTGFLT4:1:2363:22544:2780,LH00995:48:23YTGFLT4:1:2382:38360:8230,LH00995:48:23YTGFLT4:1:2409:32858:23756,LH00995:48:23YTGFLT4:1:2456:49305:20043,LH00995:48:23YTGFLT4:2:1127:37721:28478,LH00995:48:23YTGFLT4:2:1203:11104:14466,LH00995:48:23YTGFLT4:2:1208:15214:16119,LH00995:48:23YTGFLT4:2:1337:12496:25507,LH00995:48:23YTGFLT4:2:1366:10668:23209,LH00995:48:23YTGFLT4:2:1367:9503:26685,LH00995:48:23YTGFLT4:2:1391:21832:17773,LH00995:48:23YTGFLT4:2:2165:4365:14424,LH00995:48:23YTGFLT4:2:2172:12391:3943,LH00995:48:23YTGFLT4:2:2270:16856:24344,LH00995:48:23YTGFLT4:2:2323:41782:29683,LH00995:48:23YTGFLT4:2:2406:9842:3004,LH00995:48:23YTGFLT4:2:2451:28166:6213,LH00995:48:23YTGFLT4:3:1111:15942:20996,LH00995:48:23YTGFLT4:3:1129:1089:19959,LH00995:48:23YTGFLT4:3:1129:1105:19959,LH00995:48:23YTGFLT4:3:1214:15853:5176,LH00995:48:23YTGFLT4:3:1305:6703:27890,LH00995:48:23YTGFLT4:3:1374:19138:19384,LH00995:48:23YTGFLT4:3:1395:34112:23994,LH00995:48:23YTGFLT4:3:1395:34129:23994,LH00995:48:23YTGFLT4:3:1444:44864:10725,LH00995:48:23YTGFLT4:3:2126:6267:19090,LH00995:48:23YTGFLT4:3:2157:41588:22565,LH00995:48:23YTGFLT4:3:2281:30520:26460,LH00995:48:23YTGFLT4:3:2284:42065:13275,LH00995:48:23YTGFLT4:3:2295:28708:17773,LH00995:48:23YTGFLT4:3:2329:46749:7151,LH00995:48:23YTGFLT4:3:2361:19364:6437,LH00995:48:23YTGFLT4:3:2374:34371:14410,LH00995:48:23YTGFLT4:4:1118:13976:13947,LH00995:48:23YTGFLT4:4:1139:21589:29235,LH00995:48:23YTGFLT4:4:1208:40423:28786,LH00995:48:23YTGFLT4:4:1239:47242:5596,LH00995:48:23YTGFLT4:4:1268:45924:28338,LH00995:48:23YTGFLT4:4:1348:28045:2023,LH00995:48:23YTGFLT4:4:1368:49459:26138,LH00995:48:23YTGFLT4:4:1482:23045:22789,LH00995:48:23YTGFLT4:4:2172:37737:15251,LH00995:48:23YTGFLT4:4:2310:46126:4671,LH00995:48:23YTGFLT4:4:2346:7634:9632,LH00995:48:23YTGFLT4:4:2398:17868:8805,LH00995:48:23YTGFLT4:4:2402:4066:3340,LH00995:48:23YTGFLT4:4:2413:50956:29067,LH00995:48:23YTGFLT4:4:2459:38635:16610,LH00995:48:23YTGFLT4:4:2461:26572:14550,LH00995:48:23YTGFLT4:4:2489:12091:4377,LH00995:48:23YTGFLT4:5:1123:33320:26292,LH00995:48:23YTGFLT4:5:1144:44290:17577,LH00995:48:23YTGFLT4:5:1240:16953:16385,LH00995:48:23YTGFLT4:5:1338:45414:16385,LH00995:48:23YTGFLT4:5:1402:34549:9786,LH00995:48:23YTGFLT4:5:1420:26071:9337,LH00995:48:23YTGFLT4:5:2212:44273:4629,LH00995:48:23YTGFLT4:5:2229:32923:24905,LH00995:48:23YTGFLT4:5:2268:50236:16161,LH00995:48:23YTGFLT4:5:2284:51862:13765,LH00995:48:23YTGFLT4:5:2313:29137:19833,LH00995:48:23YTGFLT4:5:2384:19421:21332,LH00995:48:23YTGFLT4:5:2457:13111:3088,LH00995:48:23YTGFLT4:5:2492:8750:28884,LH00995:48:23YTGFLT4:6:1314:34873:7992,LH00995:48:23YTGFLT4:6:1344:32114:4867,LH00995:48:23YTGFLT4:6:1428:1663:14536,LH00995:48:23YTGFLT4:6:1449:2650:5708,LH00995:48:23YTGFLT4:6:1485:39015:26685,LH00995:48:23YTGFLT4:6:1492:51109:3046,LH00995:48:23YTGFLT4:6:2144:22794:6157,LH00995:48:23YTGFLT4:6:2155:37138:3788,LH00995:48:23YTGFLT4:6:2156:5862:17829,LH00995:48:23YTGFLT4:6:2168:16638:18557,LH00995:48:23YTGFLT4:6:2241:27228:27848,LH00995:48:23YTGFLT4:6:2331:29169:23756,LH00995:48:23YTGFLT4:6:2381:46353:8455,LH00995:48:23YTGFLT4:6:2381:46361:8469,LH00995:48:23YTGFLT4:6:2406:39225:7852,LH00995:48:23YTGFLT4:6:2458:20052:3620,LH00995:48:23YTGFLT4:6:2477:26572:1546,LH00995:48:23YTGFLT4:7:1218:43950:12924,LH00995:48:23YTGFLT4:7:1229:3815:28604,LH00995:48:23YTGFLT4:7:1276:3767:17282,LH00995:48:23YTGFLT4:7:1347:40382:14816,LH00995:48:23YTGFLT4:7:1351:37890:22663,LH00995:48:23YTGFLT4:7:1367:36944:10767,LH00995:48:23YTGFLT4:7:2107:26589:20463,LH00995:48:23YTGFLT4:7:2107:26597:20449,LH00995:48:23YTGFLT4:7:2172:1963:13765,LH00995:48:23YTGFLT4:7:2329:33198:14536,LH00995:48:23YTGFLT4:7:2338:7237:20996,LH00995:48:23YTGFLT4:7:2391:6550:17927,LH00995:48:23YTGFLT4:7:2440:25610:9940,LH00995:48:23YTGFLT4:7:2454:13353:2667,LH00995:48:23YTGFLT4:7:2460:31079:12882,LH00995:48:23YTGFLT4:8:1131:46344:12952,LH00995:48:23YTGFLT4:8:1175:2311:15489,LH00995:48:23YTGFLT4:8:1264:8419:20575,LH00995:48:23YTGFLT4:8:1270:13022:15489,LH00995:48:23YTGFLT4:8:1292:5085:10262,LH00995:48:23YTGFLT4:8:1354:7472:8763,LH00995:48:23YTGFLT4:8:1421:17471:1589,LH00995:48:23YTGFLT4:8:1437:39274:26460,LH00995:48:23YTGFLT4:8:1439:29436:12252,LH00995:48:23YTGFLT4:8:2101:49508:26642,LH00995:48:23YTGFLT4:8:2127:23029:6815,LH00995:48:23YTGFLT4:8:2218:6946:15587,LH00995:48:23YTGFLT4:8:2325:26750:11439,LH00995:48:23YTGFLT4:8:2348:38368:28730,LH00995:48:23YTGFLT4:8:2450:38036:9884

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

9448

16407

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(29),mismatches(3)

TGCCAAGCTCCCTTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

PSSLLPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:1160:16064:1420,LH00995:48:23YTGFLT4:1:2101:29825:21360,LH00995:48:23YTGFLT4:1:2197:47558:28898,LH00995:48:23YTGFLT4:2:1231:39978:3214,LH00995:48:23YTGFLT4:2:1475:28296:4699,LH00995:48:23YTGFLT4:2:1479:19858:6703,LH00995:48:23YTGFLT4:2:2125:33222:22509,LH00995:48:23YTGFLT4:2:2125:33231:22523,LH00995:48:23YTGFLT4:3:1124:2133:13331,LH00995:48:23YTGFLT4:3:1150:32875:2149,LH00995:48:23YTGFLT4:3:1272:30990:22285,LH00995:48:23YTGFLT4:3:2204:40528:1420,LH00995:48:23YTGFLT4:3:2233:30949:4139,LH00995:48:23YTGFLT4:3:2298:3079:22761,LH00995:48:23YTGFLT4:3:2391:15311:23041,LH00995:48:23YTGFLT4:3:2496:5005:20127,LH00995:48:23YTGFLT4:4:1186:45689:27203,LH00995:48:23YTGFLT4:4:1186:45697:27217,LH00995:48:23YTGFLT4:4:1296:43092:13065,LH00995:48:23YTGFLT4:4:2111:13936:3592,LH00995:48:23YTGFLT4:4:2254:51069:7123,LH00995:48:23YTGFLT4:5:1243:37559:13765,LH00995:48:23YTGFLT4:5:1267:16460:12952,LH00995:48:23YTGFLT4:5:1321:46951:11649,LH00995:48:23YTGFLT4:5:1363:48771:29319,LH00995:48:23YTGFLT4:5:1363:48780:29333,LH00995:48:23YTGFLT4:5:1397:29938:5218,LH00995:48:23YTGFLT4:5:1444:38473:19188,LH00995:48:23YTGFLT4:5:1469:35601:3732,LH00995:48:23YTGFLT4:5:2178:44904:6787,LH00995:48:23YTGFLT4:6:1201:29347:17675,LH00995:48:23YTGFLT4:6:1258:3427:27651,LH00995:48:23YTGFLT4:6:2174:23256:6899,LH00995:48:23YTGFLT4:6:2232:9616:21108,LH00995:48:23YTGFLT4:6:2303:30876:27693,LH00995:48:23YTGFLT4:6:2354:38643:3340,LH00995:48:23YTGFLT4:7:1117:48569:23504,LH00995:48:23YTGFLT4:7:1282:37502:5092,LH00995:48:23YTGFLT4:7:1493:19526:12826,LH00995:48:23YTGFLT4:7:2498:3977:16582,LH00995:48:23YTGFLT4:7:2498:8362:10164,LH00995:48:23YTGFLT4:8:1212:7391:24821,LH00995:48:23YTGFLT4:8:1382:28765:8370,LH00995:48:23YTGFLT4:8:1427:40358:13905,LH00995:48:23YTGFLT4:8:2165:6396:20939,LH00995:48:23YTGFLT4:8:2466:23385:22004

CFAP44

-/-

chr3:113403974

chr3:113404016

CDS

CDS/splice-site

duplication/ITD

240

low

out-of-frame

|WD_domain__G-beta_repeat(100%)

ENSG00000206530.11

ENST00000393845.9

upstream

downstream

duplicates(14)

ACTAGGT?GATTTGGCAAAACAATCACTACTGATATAGAAGGCTACATGGAGCTCCCAGATGGGAAG___GTGCTCTCAGGGTCAGAATGGGGCAACATGCTGCTTTGGGAAG|GTGCTCTCAGGGTCAGAATGGGGCAACATGCTGCTTTGGGAAG

LG?FGKTITTDIEGYMELPDGKVLSGSEWGNMLLWE|galrvrmgqhaalg

LH00995:48:23YTGFLT4:2:1296:39088:7025,LH00995:48:23YTGFLT4:2:2272:19033:14914,LH00995:48:23YTGFLT4:2:2363:50317:2766,LH00995:48:23YTGFLT4:2:2363:50317:2766,LH00995:48:23YTGFLT4:3:1145:2820:6899,LH00995:48:23YTGFLT4:3:1335:13701:14508,LH00995:48:23YTGFLT4:5:1151:20934:5176,LH00995:48:23YTGFLT4:6:1111:6404:28100,LH00995:48:23YTGFLT4:7:1363:15416:23840,LH00995:48:23YTGFLT4:7:2234:29080:2527,LH00995:48:23YTGFLT4:7:2234:29088:2513,LH00995:48:23YTGFLT4:7:2388:14583:24190,LH00995:48:23YTGFLT4:8:1442:24218:11537,LH00995:48:23YTGFLT4:8:2297:25238:16610,LH00995:48:23YTGFLT4:2:1296:39088:7025,LH00995:48:23YTGFLT4:2:2272:19033:14914,LH00995:48:23YTGFLT4:3:1145:2820:6899,LH00995:48:23YTGFLT4:3:1335:13701:14508,LH00995:48:23YTGFLT4:5:1151:20934:5176,LH00995:48:23YTGFLT4:6:1111:6404:28100,LH00995:48:23YTGFLT4:6:1159:36734:1855,LH00995:48:23YTGFLT4:6:1159:36734:1855,LH00995:48:23YTGFLT4:7:1363:15416:23840,LH00995:48:23YTGFLT4:7:2234:29080:2527,LH00995:48:23YTGFLT4:7:2234:29088:2513,LH00995:48:23YTGFLT4:7:2388:14583:24190,LH00995:48:23YTGFLT4:8:1442:24218:11537,LH00995:48:23YTGFLT4:8:2297:25238:16610

H2AC18

H3C13(53),H4C14(18913)

-/-

./-

chr1:149842319

chr1:149813746

CDS

intergenic

deletion/read-through

14802

low

out-of-frame

C-terminus_of_histone_H2A(100%),Core_histone_H2A/H2B/H3/H4(100%)|

ENSG00000203812.2

ENST00000369159.2

upstream

downstream

duplicates(4),mismatches(1)

CTCCAGCTGGCCATCCGCAACGACGAGGAACTGAACAAGCTGCTGGGCAAAGTCACCATCGCCCAGGGCGGCGTCTTGCCTAACATCCAGGCCGTACTGCTCCCTAAGAAGACGGAGAGTCACCACAAGGC|CCAATCAAGAGGAGACTATGTCTATAAATATGACTGCCTAG

LQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKa|qsrgdyvykydcl

LH00995:48:23YTGFLT4:2:1123:1162:29697,LH00995:48:23YTGFLT4:2:1275:8467:4097,LH00995:48:23YTGFLT4:2:2229:24065:6535,LH00995:48:23YTGFLT4:2:2445:37114:18655,LH00995:48:23YTGFLT4:3:2283:6477:14017,LH00995:48:23YTGFLT4:3:2485:8022:27063,LH00995:48:23YTGFLT4:4:2121:13904:17072,LH00995:48:23YTGFLT4:5:1234:1890:19889,LH00995:48:23YTGFLT4:5:2477:28223:28646,LH00995:48:23YTGFLT4:7:1246:21508:28226,LH00995:48:23YTGFLT4:7:1479:29517:24415,LH00995:48:23YTGFLT4:8:1258:29299:28436

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

678

3604

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(15)

GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAG

DLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREE

LH00995:48:23YTGFLT4:1:1475:16112:29277,LH00995:48:23YTGFLT4:2:2332:25488:23546,LH00995:48:23YTGFLT4:5:1183:24356:9730,LH00995:48:23YTGFLT4:1:1294:21597:14228,LH00995:48:23YTGFLT4:2:2185:22333:18305,LH00995:48:23YTGFLT4:3:1274:51271:9744,LH00995:48:23YTGFLT4:3:2411:24898:16385,LH00995:48:23YTGFLT4:5:1466:16403:2541,LH00995:48:23YTGFLT4:6:1365:6566:22635,LH00995:48:23YTGFLT4:6:1389:21152:4629,LH00995:48:23YTGFLT4:6:2195:5158:13387,LH00995:48:23YTGFLT4:6:2315:28555:7642,LH00995:48:23YTGFLT4:6:2392:20392:26460,LH00995:48:23YTGFLT4:7:2379:13264:8595,LH00995:48:23YTGFLT4:8:1147:5611:8959,LH00995:48:23YTGFLT4:8:1459:23369:22173,LH00995:48:23YTGFLT4:2:1267:19316:2401,LH00995:48:23YTGFLT4:2:2334:3791:23181,LH00995:48:23YTGFLT4:6:2151:32494:10206,LH00995:48:23YTGFLT4:6:2190:44702:6241,LH00995:48:23YTGFLT4:6:2190:44710:6227,LH00995:48:23YTGFLT4:7:2283:24194:24779

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

4787

3557

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(30)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCTGCCtATTTTCCTGTTCTTCTGTCCTTCAATACTTCTGTAGCTTCCCATTCATGTTCTCTTCT

GNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:2358:3233:4195,LH00995:48:23YTGFLT4:1:2428:18871:12336,LH00995:48:23YTGFLT4:2:1215:32300:16848,LH00995:48:23YTGFLT4:2:1256:7658:4293,LH00995:48:23YTGFLT4:2:1429:16387:18684,LH00995:48:23YTGFLT4:2:2301:10481:11930,LH00995:48:23YTGFLT4:3:2189:33198:22439,LH00995:48:23YTGFLT4:3:2238:6048:4559,LH00995:48:23YTGFLT4:3:2421:37098:16105,LH00995:48:23YTGFLT4:3:2457:49556:15265,LH00995:48:23YTGFLT4:4:2366:44217:22747,LH00995:48:23YTGFLT4:5:1293:6008:25732,LH00995:48:23YTGFLT4:5:1293:6024:25732,LH00995:48:23YTGFLT4:5:1346:32389:28744,LH00995:48:23YTGFLT4:5:2379:44459:25409,LH00995:48:23YTGFLT4:6:1119:14284:17142,LH00995:48:23YTGFLT4:6:1278:33368:28674,LH00995:48:23YTGFLT4:6:2495:33352:10290,LH00995:48:23YTGFLT4:8:1218:33878:10080,LH00995:48:23YTGFLT4:8:1240:41539:19790,LH00995:48:23YTGFLT4:8:1252:50098:11579,LH00995:48:23YTGFLT4:8:1419:26678:13751,LH00995:48:23YTGFLT4:1:2339:19656:8202,LH00995:48:23YTGFLT4:2:1272:51846:20827,LH00995:48:23YTGFLT4:2:1272:51862:20827,LH00995:48:23YTGFLT4:3:1172:44581:10991,LH00995:48:23YTGFLT4:3:1393:21460:7348,LH00995:48:23YTGFLT4:3:2389:50721:28660,LH00995:48:23YTGFLT4:4:2316:33870:22145,LH00995:48:23YTGFLT4:4:2363:45867:14928,LH00995:48:23YTGFLT4:5:2363:27284:6283,LH00995:48:23YTGFLT4:6:2406:9624:18375,LH00995:48:23YTGFLT4:6:2417:41062:3354,LH00995:48:23YTGFLT4:7:1340:2456:9744,LH00995:48:23YTGFLT4:8:1104:5547:26586,LH00995:48:23YTGFLT4:8:2205:40285:20505

RBM14

RBM4

+/+

chr11:66617057

chr11:66643859

CDS/splice-site

deletion/read-through

4787

2409

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000510173.6

downstream

upstream

duplicates(5)

TGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|ACACCTGTTGCCG

VSAACTSQELRSLFERRGRVIECDVVK|dtcc

LH00995:48:23YTGFLT4:2:1219:17471:22663,LH00995:48:23YTGFLT4:2:2129:10239:7165,LH00995:48:23YTGFLT4:4:1343:18669:21990,LH00995:48:23YTGFLT4:4:1343:18685:21990,LH00995:48:23YTGFLT4:4:2114:19906:25115,LH00995:48:23YTGFLT4:7:2133:50398:10472

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

4787

1807

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(6%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

GCTGtATGCACGAGCCAGGAACTGCGtAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGAtTGCGCCCGGGATGGGAGACCAGAGC

AvCTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRiAPGMGDQ

LH00995:48:23YTGFLT4:1:1469:3071:25073

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4787

3303

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(476),read_through(124)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGAC

GNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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3153,LH00995:48:23YTGFLT4:2:2297:10401:12658,LH00995:48:23YTGFLT4:2:2308:32478:1406,LH00995:48:23YTGFLT4:2:2314:25796:7684,LH00995:48:23YTGFLT4:2:2336:4171:9660,LH00995:48:23YTGFLT4:2:2338:42219:21192,LH00995:48:23YTGFLT4:2:2342:46191:2485,LH00995:48:23YTGFLT4:2:2364:9106:24737,LH00995:48:23YTGFLT4:2:2373:48108:12840,LH00995:48:23YTGFLT4:2:2376:12375:6549,LH00995:48:23YTGFLT4:2:2429:39209:6927,LH00995:48:23YTGFLT4:2:2434:34913:10192,LH00995:48:23YTGFLT4:2:2434:34929:10192,LH00995:48:23YTGFLT4:2:2456:8022:12714,LH00995:48:23YTGFLT4:2:2470:32842:1504,LH00995:48:23YTGFLT4:3:1106:27268:22425,LH00995:48:23YTGFLT4:3:1106:27276:22411,LH00995:48:23YTGFLT4:3:1128:29129:4825,LH00995:48:23YTGFLT4:3:1186:10344:4041,LH00995:48:23YTGFLT4:3:1217:51991:22117,LH00995:48:23YTGFLT4:3:1226:29477:25213,LH00995:48:23YTGFLT4:3:1234:12965:3844,LH00995:48:23YTGFLT4:3:1235:37276:18880,LH00995:48:23YTGFLT4:3:1267:36005:26236,LH00995:48:23YTGFLT4:3:1275:21492:18445,LH00995:48:23YTGFLT4:3:1295:4665:29683,LH00995:48:23YTGFLT4:3:1301:42761:9744,LH00995:48:23YTGFLT4:3:1326:35391:15251,LH00995:48:23YTGFLT4:3:1369:37397:17408,LH00995:48:23YTGFLT4:3:1369:37405:17422,LH00995:48:23YTGFLT4:3:1416:15028:2429,LH00995:48:23YTGFLT4:3:1417:23482:19202,LH00995:48:23YTGFLT4:3:1417:23490:19216,LH00995:48:23YTGFLT4:3:1432:34226:2023,LH00995:48:23YTGFLT4:3:1451:32778:28268,LH00995:48:23YTGFLT4:3:1451:32794:28268,LH00995:48:23YTGFLT4:3:1466:50365:17114,LH00995:48:23YTGFLT4:3:2102:23862:21458,LH00995:48:23YTGFLT4:3:2103:35310:26348,LH00995:48:23YTGFLT4:3:2105:13847:7670,LH00995:48:23YTGFLT4:3:2110:51182:11495,LH00995:48:23YTGFLT4:3:2156:30795:23209,LH00995:48:23YTGFLT4:3:2183:3338:1434,LH00995:48:23YTGFLT4:3:2220:45552:19538,LH00995:48:23YTGFLT4:3:2228:38530:8048,LH00995:48:23YTGFLT4:3:2245:10085:15335,LH00995:48:23YTGFLT4:3:2251:28102:26755,LH00995:48:23YTGFLT4:3:2253:31265:7740,LH00995:48:23YTGFLT4:3:2276:51287:15124,LH00995:48:23YTGFLT4:3:2316:16541:1490,LH00995:48:23YTGFLT4:3:2329:6703:24050,LH00995:48:23YTGFLT4:3:2416:36378:7852,LH00995:48:23YTGFLT4:3:2438:37470:24653,LH00995:48:23YTGFLT4:3:2439:45762:23490,LH00995:48:23YTGFLT4:3:2452:7642:4041,LH00995:48:23YTGFLT4:3:2474:27252:25872,LH00995:48:23YTGFLT4:4:1106:26637:16904,LH00995:48:23YTGFLT4:4:1107:39743:13597,LH00995:48:23YTGFLT4:4:1131:2642:27525,LH00995:48:23YTGFLT4:4:1132:16509:27245,LH00995:48:23YTGFLT4:4:1145:8508:28100,LH00995:48:23YTGFLT4:4:1155:2214:14340,LH00995:48:23YTGFLT4:4:1156:14462:28969,LH00995:48:23YTGFLT4:4:1164:42081:26755,LH00995:48:23YTGFLT4:4:1164:42097:26755,LH00995:48:23YTGFLT4:4:1187:29922:7292,LH00995:48:23YTGFLT4:4:1246:3095:16932,LH00995:48:23YTGFLT4:4:1292:23094:15475,LH00995:48:23YTGFLT4:4:1304:46733:6030,LH00995:48:23YTGFLT4:4:1336:34881:4979,LH00995:48:23YTGFLT4:4:1344:4204:16946,LH00995:48:23YTGFLT4:4:1370:23070:17563,LH00995:48:23YTGFLT4:4:1390:25497:5820,LH00995:48:23YTGFLT4:4:1493:18936:10823,LH00995:48:23YTGFLT4:4:2160:23579:24723,LH00995:48:23YTGFLT4:4:2161:15400:9267,LH00995:48:23YTGFLT4:4:2168:25861:17240,LH00995:48:23YTGFLT4:4:2178:8548:10150,LH00995:48:23YTGFLT4:4:2194:37259:23784,LH00995:48:23YTGFLT4:4:2194:47922:24288,LH00995:48:23YTGFLT4:4:2207:50697:1406,LH00995:48:23YTGFLT4:4:2219:16873:2906,LH00995:48:23YTGFLT4:4:2246:4406:14158,LH00995:48:23YTGFLT4:4:2252:2044:11243,LH00995:48:23YTGFLT4:4:2255:49500:23546,LH00995:48:23YTGFLT4:4:2270:43861:26250,LH00995:48:23YTGFLT4:4:2276:52129:17619,LH00995:48:23YTGFLT4:4:2326:24696:13345,LH00995:48:23YTGFLT4:4:2340:6525:17773,LH00995:48:23YTGFLT4:4:2391:29137:19412,LH00995:48:23YTGFLT4:4:2391:30278:15222,LH00995:48:23YTGFLT4:4:2419:4204:27315,LH00995:48:23YTGFLT4:4:2422:22997:12952,LH00995:48:23YTGFLT4:4:2427:17957:17619,LH00995:48:23YTGFLT4:4:2483:31815:28983,LH00995:48:23YTGFLT4:4:2487:42898:17661,LH00995:48:23YTGFLT4:4:2496:41426:27441,LH00995:48:23YTGFLT4:5:1135:32397:6143,LH00995:48:23YTGFLT4:5:1146:31791:21850,LH00995:48:23YTGFLT4:5:1230:33376:11537,LH00995:48:23YTGFLT4:5:1253:25359:19510,LH00995:48:23YTGFLT4:5:1273:42429:3816,LH00995:48:23YTGFLT4:5:1282:8321:20323,LH00995:48:23YTGFLT4:5:1295:38902:26993,LH00995:48:23YTGFLT4:5:1320:27131:7866,LH00995:48:23YTGFLT4:5:1338:2125:6507,LH00995:48:23YTGFLT4:5:1338:2133:6493,LH00995:48:23YTGFLT4:5:1338:2133:6521,LH00995:48:23YTGFLT4:5:1349:48958:27175,LH00995:48:23YTGFLT4:5:1351:39144:5162,LH00995:48:23YTGFLT4:5:1414:7820:9562,LH00995:48:23YTGFLT4:5:1428:35148:23854,LH00995:48:23YTGFLT4:5:1443:43699:10640,LH00995:48:23YTGFLT4:5:1445:18830:1056,LH00995:48:23YTGFLT4:5:1480:46652:1238,LH00995:48:23YTGFLT4:5:2109:4932:27567,LH00995:48:23YTGFLT4:5:2138:22252:23462,LH00995:48:23YTGFLT4:5:2162:38222:18922,LH00995:48:23YTGFLT4:5:2170:43044:29319,LH00995:48:23YTGFLT4:5:2197:33789:19118,LH00995:48:23YTGFLT4:5:2202:23102:9071,LH00995:48:23YTGFLT4:5:2211:13248:12854,LH00995:48:23YTGFLT4:5:2214:8855:20351,LH00995:48:23YTGFLT4:5:2231:2950:4097,LH00995:48:23YTGFLT4:5:2242:21306:8314,LH00995:48:23YTGFLT4:5:2253:6121:26152,LH00995:48:23YTGFLT4:5:2258:28288:17549,LH00995:48:23YTGFLT4:5:2258:6525:11439,LH00995:48:23YTGFLT4:5:2260:6898:14886,LH00995:48:23YTGFLT4:5:2289:39516:11691,LH00995:48:23YTGFLT4:5:2296:33740:25704,LH00995:48:23YTGFLT4:5:2298:45099:13233,LH00995:48:23YTGFLT4:5:2335:33053:14228,LH00995:48:23YTGFLT4:5:2348:11962:10991,LH00995:48:23YTGFLT4:5:2393:47979:9562,LH00995:48:23YTGFLT4:5:2395:15036:22565,LH00995:48:23YTGFLT4:5:2407:13976:21150,LH00995:48:23YTGFLT4:5:2449:25165:15531,LH00995:48:23YTGFLT4:5:2459:37049:25606,LH00995:48:23YTGFLT4:6:1101:24404:15727,LH00995:48:23YTGFLT4:6:1115:22463:29207,LH00995:48:23YTGFLT4:6:1115:22479:29207,LH00995:48:23YTGFLT4:6:1140:40220:26586,LH00995:48:23YTGFLT4:6:1145:21322:27623,LH00995:48:23YTGFLT4:6:1152:6307:6016,LH00995:48:23YTGFLT4:6:1159:14251:6381,LH00995:48:23YTGFLT4:6:1188:15109:4867,LH00995:48:23YTGFLT4:6:1202:34857:21192,LH00995:48:23YTGFLT4:6:1219:28352:5694,LH00995:48:23YTGFLT4:6:1229:23571:23083,LH00995:48:23YTGFLT4:6:1229:23587:23083,LH00995:48:23YTGFLT4:6:1232:39241:19678,LH00995:48:23YTGFLT4:6:1245:42340:17787,LH00995:48:23YTGFLT4:6:1248:5773:2121,LH00995:48:23YTGFLT4:6:1284:2367:7488,LH00995:48:23YTGFLT4:6:1291:33085:20281,LH00995:48:23YTGFLT4:6:1295:18232:21486,LH00995:48:23YTGFLT4:6:1301:27179:2822,LH00995:48:23YTGFLT4:6:1304:18491:18067,LH00995:48:23YTGFLT4:6:1309:35229:3200,LH00995:48:23YTGFLT4:6:1310:25731:11383,LH00995:48:23YTGFLT4:6:1320:33263:13667,LH00995:48:23YTGFLT4:6:1327:49839:18165,LH00995:48:23YTGFLT4:6:1349:29881:9379,LH00995:48:23YTGFLT4:6:1353:13936:2275,LH00995:48:23YTGFLT4:6:1442:15708:9968,LH00995:48:23YTGFLT4:6:1442:24744:16932,LH00995:48:23YTGFLT4:6:1442:24752:16918,LH00995:48:23YTGFLT4:6:2130:23013:21052,LH00995:48:23YTGFLT4:6:2144:21160:5624,LH00995:48:23YTGFLT4:6:2153:41013:16470,LH00995:48:23YTGFLT4:6:2183:14478:8455,LH00995:48:23YTGFLT4:6:2232:5878:7151,LH00995:48:23YTGFLT4:6:2237:27017:11705,LH00995:48:23YTGFLT4:6:2262:2472:6409,LH00995:48:23YTGFLT4:6:2271:27373:15769,LH00995:48:23YTGFLT4:6:2275:27770:29627,LH00995:48:23YTGFLT4:6:2275:33562:10234,LH00995:48:23YTGFLT4:6:2275:40269:2345,LH00995:48:23YTGFLT4:6:2289:27616:15349,LH00995:48:23YTGFLT4:6:2290:46377:23602,LH00995:48:23YTGFLT4:6:2295:39727:17268,LH00995:48:23YTGFLT4:6:2298:28433:14270,LH00995:48:23YTGFLT4:6:2320:41668:1294,LH00995:48:23YTGFLT4:6:2376:24048:29487,LH00995:48:23YTGFLT4:6:2376:24073:29473,LH00995:48:23YTGFLT4:6:2381:26419:25634,LH00995:48:23YTGFLT4:6:2385:17390:24288,LH00995:48:23YTGFLT4:6:2402:1291:17002,LH00995:48:23YTGFLT4:6:2430:8839:4097,LH00995:48:23YTGFLT4:6:2443:50357:16568,LH00995:48:23YTGFLT4:7:1127:27098:19664,LH00995:48:23YTGFLT4:7:1127:27106:19678,LH00995:48:23YTGFLT4:7:1128:31192:7698,LH00995:48:23YTGFLT4:7:1136:31782:1182,LH00995:48:23YTGFLT4:7:1189:2343:27175,LH00995:48:23YTGFLT4:7:1189:2351:27161,LH00995:48:23YTGFLT4:7:1194:41207:23223,LH00995:48:23YTGFLT4:7:1196:8491:2205,LH00995:48:23YTGFLT4:7:1201:49645:12056,LH00995:48:23YTGFLT4:7:1208:39978:28688,LH00995:48:23YTGFLT4:7:1222:37640:19594,LH00995:48:23YTGFLT4:7:1228:44815:7810,LH00995:48:23YTGFLT4:7:1274:44573:18712,LH00995:48:23YTGFLT4:7:1286:39088:13975,LH00995:48:23YTGFLT4:7:1291:7739:1827,LH00995:48:23YTGFLT4:7:1357:44209:2247,LH00995:48:23YTGFLT4:7:1385:10142:1336,LH00995:48:23YTGFLT4:7:1401:10004:13205,LH00995:48:23YTGFLT4:7:1416:27398:7964,LH00995:48:23YTGFLT4:7:1420:24129:3452,LH00995:48:23YTGFLT4:7:1425:11557:21836,LH00995:48:23YTGFLT4:7:1457:41482:18179,LH00995:48:23YTGFLT4:7:2119:24841:11495,LH00995:48:23YTGFLT4:7:2159:42712:14536,LH00995:48:23YTGFLT4:7:2190:25027:10248,LH00995:48:23YTGFLT4:7:2250:11460:3004,LH00995:48:23YTGFLT4:7:2251:29072:19132,LH00995:48:23YTGFLT4:7:2267:22527:27806,LH00995:48:23YTGFLT4:7:2270:10134:20323,LH00995:48:23YTGFLT4:7:2309:8920:24555

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

3303

low

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(8),read_through(1)

GCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAA

LH00995:48:23YTGFLT4:1:1309:43942:19468,LH00995:48:23YTGFLT4:2:1168:47056:17997,LH00995:48:23YTGFLT4:2:1212:6291:2485,LH00995:48:23YTGFLT4:3:2135:15238:16133,LH00995:48:23YTGFLT4:6:2367:23191:9982,LH00995:48:23YTGFLT4:7:2286:14624:27259,LH00995:48:23YTGFLT4:7:2318:27406:6689,LH00995:48:23YTGFLT4:8:1135:20456:4153,LH00995:48:23YTGFLT4:8:1135:20473:4153

RBM14

RBM4

+/+

chr11:66624324

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3451

3303

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000393979.3

ENST00000396053.9

downstream

upstream

duplicates(4),read_through(1)

AGACTACGCGTTTGTTCACATGGAGAAGGAAGCAGATGCCAAAGCCGCAATCGCGCAGCTCAACGGCAAAGAAGTGAAGGGCAAGtGCATCAACGTGGAACTCTCCACCAAGG|GCTCTTGTCAGGATGGTGAAGCTG

DYAFVHMEKEADAKAAIAQLNGKEVKGKcINVELSTK|gscqdgea

LH00995:48:23YTGFLT4:2:1232:12205:5162,LH00995:48:23YTGFLT4:2:2173:20481:1252,LH00995:48:23YTGFLT4:4:2238:47032:25157,LH00995:48:23YTGFLT4:4:2489:45082:7123,LH00995:48:23YTGFLT4:7:2397:28304:1995

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1216

3303

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(2),read_through(1)

CCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGtCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCG

PYKKAVAMSKr|llsgw*

LH00995:48:23YTGFLT4:1:1130:18499:21248,LH00995:48:23YTGFLT4:4:2495:6072:2191,LH00995:48:23YTGFLT4:6:1143:3111:10290

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

136

213

low

out-of-frame

C1q_domain(100%),Collagen_triple_helix_repeat_(20_copies)(100%)|CoA-transferase_family_III(77%),Lyase(100%)

ENSG00000082196.21

ENSG00000242110.8

ENST00000382065.8

ENST00000335606.11

upstream

downstream

duplicates(6)

CTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCC

VLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkll

LH00995:48:23YTGFLT4:1:1156:23676:22397,LH00995:48:23YTGFLT4:2:1406:1760:24064,LH00995:48:23YTGFLT4:2:2316:31087:12252,LH00995:48:23YTGFLT4:2:2342:12229:11509,LH00995:48:23YTGFLT4:3:1353:50389:2948,LH00995:48:23YTGFLT4:5:2167:15271:28100,LH00995:48:23YTGFLT4:5:2240:16055:10682,LH00995:48:23YTGFLT4:7:1308:16873:20309,LH00995:48:23YTGFLT4:8:1267:47542:10879,LH00995:48:23YTGFLT4:8:2250:18887:27245

PEDS1

UBE2V1

-/-

chr20:50127975

chr20:50096820

CDS/splice-site

deletion/read-through

1693

2741

low

in-frame

Lipid_desaturase_domain(82%)|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

duplicates(8),mismappers(1)

AACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGG

NQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITT|gVKVPRNFRLLEELEEGQKGVGDGTVS

LH00995:48:23YTGFLT4:2:2342:21532:7446,LH00995:48:23YTGFLT4:8:2332:50875:18922,LH00995:48:23YTGFLT4:1:1359:24712:7123,LH00995:48:23YTGFLT4:2:1310:12876:23672,LH00995:48:23YTGFLT4:2:2103:5951:6044,LH00995:48:23YTGFLT4:2:2213:14559:26923,LH00995:48:23YTGFLT4:2:2406:36054:15110,LH00995:48:23YTGFLT4:3:2486:19049:28534,LH00995:48:23YTGFLT4:4:2189:7779:7978,LH00995:48:23YTGFLT4:5:1175:41482:5596,LH00995:48:23YTGFLT4:6:2379:48990:24765,LH00995:48:23YTGFLT4:8:1393:29347:10108

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

120

low

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(3)

GGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAG

LH00995:48:23YTGFLT4:3:1491:50810:13765,LH00995:48:23YTGFLT4:4:2267:47882:6843,LH00995:48:23YTGFLT4:5:1421:15311:10823,LH00995:48:23YTGFLT4:8:1105:28385:13037,LH00995:48:23YTGFLT4:8:1430:7844:24008,LH00995:48:23YTGFLT4:4:2141:46247:15755

AC104009.1

PLCG1

-/-

+/+

chr11:22316232

chr20:41167868

intron

CDS

translocation

985

low

|C2_domain(100%),Phosphatidylinositol-specific_phospholipase_C__Y_domain(100%),SH3_domain(100%)

ENSG00000254768.6

ENSG00000124181.14

ENST00000373271.5

upstream

duplicates(4)

GAGAGAGAGAGAGAGAGAGGCACGGGG|CCCTGTATGAGGGACGCAACCCTGGCTTCTATGTAGAGGCAAACCCTATGCCAACTTTCAAG___TGTGCAGTCAAAGCCCTCTTTGACTACAAGGCCCAGAGGGAGGACGAGCTGACCTTCAcCAAGAGCGCCATCATCC

LH00995:48:23YTGFLT4:1:1169:20092:16778,LH00995:48:23YTGFLT4:1:2143:1833:8160,LH00995:48:23YTGFLT4:4:1198:50373:5778,LH00995:48:23YTGFLT4:4:1198:50381:5792,LH00995:48:23YTGFLT4:6:1161:11938:22551,LH00995:48:23YTGFLT4:7:1205:6380:28002,LH00995:48:23YTGFLT4:8:1179:40471:25564

FAM83A

ZHX1

+/+

-/+

chr8:123194148

chr8:123255838

CDS/splice-site

CDS

deletion/read-through/5'-5'

5783

602

low

out-of-frame

FAM83_A-H(86%)|

ENSG00000147689.16

ENSG00000165156.15

ENST00000536633.2

downstream

upstream

duplicates(6)

GAACATTTCCATCCGGAGTGTGGAAGGAGAGATATACTGTGCCAAGTCAGGCAGGAAATTCGCTGGCCAAATCCGGGAGAAGTTCATCATCTCGGACTGGAGATTTGTCCTGTCTGGATCTTACAG|GTGTAAGCACAGGAGGACCTTCATCCAAATCTGATATCAACTCAAGGTCTGGATCTTGTTCACTGGCAAGGACCATGCAAGGTGTTGTTGATTTTCGCCTGCTTGCCATTCTG

NISIRSVEGEIYCAKSGRKFAGQIREKFIISDWRFVLSGSYr|ckhrrtfiqi*

LH00995:48:23YTGFLT4:3:1103:27228:15909,LH00995:48:23YTGFLT4:5:2415:21532:27848,LH00995:48:23YTGFLT4:6:2104:15805:26474,LH00995:48:23YTGFLT4:1:1453:38182:8651,LH00995:48:23YTGFLT4:1:1455:25893:22369,LH00995:48:23YTGFLT4:2:1168:14065:21276,LH00995:48:23YTGFLT4:4:2485:5530:20253,LH00995:48:23YTGFLT4:7:2465:30545:7978,LH00995:48:23YTGFLT4:8:1370:50438:4657

TOM1L2

ARNTL

-/-

+/+

chr17:17866296

chr11:13360345

CDS/splice-site

translocation

883

low

in-frame

GAT_domain(100%),VHS_domain(100%)|PAS_domain(100%),PAS_fold(100%)

ENSG00000175662.18

ENSG00000133794.20

ENST00000581396.5

ENST00000529388.6

upstream

CCCCATCTTCCCTCTCCTCCCAGCTTGCAGGCTTAG|GTGCCACCAATCCATACACAGAAGCAAACTACAAACCAACTTTTCTATCAGACGATGAATTGAAACACCTCATTCTCAGG___GCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAG

PSSLSSQLAGL|gATNPYTEANYKPTFLSDDELKHLILRAADGFLFVVGCDR

LH00995:48:23YTGFLT4:3:2135:33473:25662,LH00995:48:23YTGFLT4:8:1178:3775:24527

GMDS-DT

TEAD4

+/+

chr6:2248926

chr12:3011004

exon/splice-site

CDS/splice-site

translocation

2021

low

|TEA/ATTS_domain(44%),YAP_binding_domain(100%)

ENSG00000250903.9

ENSG00000197905.10

ENST00000659523.1

ENST00000359864.8

downstream

upstream

duplicates(8)

GTGTGGGGCAGCGTGCTGCATCTCAGCCAACTCCAGGAG|GTCGGAACGAGCTGATTGCCCGCTACATCAAGCTCCGGACAGGGAAGACCCGCACCAGGAAGCAG___GTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAgAG___GACCAGGCAG

LH00995:48:23YTGFLT4:2:2427:16258:10865,LH00995:48:23YTGFLT4:4:2439:31815:11972,LH00995:48:23YTGFLT4:4:2451:35989:15082,LH00995:48:23YTGFLT4:5:2126:1736:26292,LH00995:48:23YTGFLT4:5:2379:28959:12378,LH00995:48:23YTGFLT4:6:1247:12997:19090,LH00995:48:23YTGFLT4:7:1242:28902:9169,LH00995:48:23YTGFLT4:7:1242:28919:9169,LH00995:48:23YTGFLT4:7:2315:39541:1925,LH00995:48:23YTGFLT4:8:1145:24226:5134

MGMT

TACC2

+/+

chr10:129536377

chr10:122195040

CDS/splice-site

duplication

4520

3083

low

in-frame

6-O-methylguanine_DNA_methyltransferase__ribonuclease-like_domain(43%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(100%)

ENSG00000170430.10

ENSG00000138162.19

ENST00000651593.1

ENST00000369005.6

downstream

upstream

AATGAAACGCACCACACTGGACAGCCCTTTGGGGAAGCTGGAGCTGTCTGGTTGTGAGCAGGGTCTGCACGAAATAAAGCTCCTGGGCAAGGGGACGTCTGCAGCTGA|GAGTTCCGATTCTGAAGAGGCATTTGAGACCCCGGAGTCAACGAtCCCTGTCAAAGCTCCGCtAGCTtCACCCCCACCACCCCCCGAAGTCATC

MKRTTLDSPLGKLELSGCEQGLHEIKLLGKGTSAAe|SSDSEEAFETPESTiPVKAPlAsPPPPPEV

LH00995:48:23YTGFLT4:3:1374:13920:18922,LH00995:48:23YTGFLT4:3:2132:4891:29543

TRIM22

SRSF11

+/+

chr11:5708603

chr1:70228422

CDS/splice-site

translocation

1274

1557

low

stop-codon

B-box_zinc_finger(100%),zinc_finger_of_C3HC4-type__RING(100%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(52%)

ENSG00000132274.16

ENSG00000116754.13

ENST00000379965.8

ENST00000370950.7

downstream

upstream

duplicates(3)

TCTGTTTCCAAGAAACTAAAGAGTG--TTCCGAGTACCAGATCTGAGTGGGATGCTGCAAGTTCTTAAAG___AGCTGACAGATGTCCAGTACTACTGGG|TGATTCGCCTTTGCCAGTCTCATCTCGTGTCTGCTTTGTTAAGTTCCATGATCCAGACTCAGCAGTTGTGGCACAGCATCTGACAAACACTGTAT

LH00995:48:23YTGFLT4:1:2236:31912:6002,LH00995:48:23YTGFLT4:5:2234:26079:14003,LH00995:48:23YTGFLT4:1:2482:33247:6297,LH00995:48:23YTGFLT4:5:1304:32737:28702,LH00995:48:23YTGFLT4:7:2391:9616:29459

WSB1

S100A3

+/+

-/-

chr17:27297308

chr1:153548490

exon/splice-site

5'UTR/splice-site

translocation

726

low

|S-100/ICaBP_type_calcium_binding_domain(100%)

ENSG00000109046.15

ENSG00000188015.10

ENST00000578312.5

ENST00000368713.8

downstream

duplicates(4)

CTCCCGAGTAGCTGGGATTACAG|TGAGGATGGCCAGGCCTCTGGAGCAGGCGGTAGCTGCCATCGTGTGCACCTTCCAGG

LH00995:48:23YTGFLT4:3:1394:50300:26923,LH00995:48:23YTGFLT4:3:1441:37971:19468,LH00995:48:23YTGFLT4:3:1441:37996:21388,LH00995:48:23YTGFLT4:7:2356:41588:29459,LH00995:48:23YTGFLT4:8:1124:35488:10682,LH00995:48:23YTGFLT4:8:1455:28110:10374

PPIP5K1

CATSPER2

-/-

chr15:43564103

chr15:43649879

CDS/splice-site

5'UTR/splice-site

duplication

439

low

stop-codon

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000409481.1

upstream

downstream

duplicates(3)

CCGAGATG___AGCTCTTGTTTGTCCCGGCCGTAAAACGATTTTCTGTGTCGTTTGCAAAGCATCCGACTAACG|AGGTATCTGCCGGTACTGAGATGTAAGTG

LH00995:48:23YTGFLT4:3:2109:17496:15755,LH00995:48:23YTGFLT4:3:2330:27252:9309,LH00995:48:23YTGFLT4:6:2315:20715:20799,LH00995:48:23YTGFLT4:8:1202:9939:1210

PPIP5K1

CATSPER2

-/-

chr15:43564103

chr15:43648066

CDS/splice-site

duplication

439

378

low

stop-codon

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000381761.6

upstream

downstream

duplicates(4)

ACCGAGATG___AGCTCTTGTTTGTCCCGGCCGTAAAACGATTTTCTGTGTCGTTTGCAAAGCATCCGACTAACG|CAGACATGGCCGCTTACCAACAAGAAGAGCAGATGCAGCTTCCCCGAGCTGATGCCATTCGTTC

LH00995:48:23YTGFLT4:1:2257:19842:23630,LH00995:48:23YTGFLT4:4:1377:33036:12070,LH00995:48:23YTGFLT4:4:1377:33053:12070,LH00995:48:23YTGFLT4:6:2471:27511:23602,LH00995:48:23YTGFLT4:8:1120:38360:25101

PPIP5K1

CATSPER2

-/-

chr15:43564103

chr15:43648063

CDS/splice-site

duplication

439

378

low

stop-codon

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000396879.8

upstream

downstream

duplicates(2)

ACCGAGATG___AGCTCTTGTTTGTCCCGGCCGTAAAACGATTTTCTGTGTCGTTTGCAAAGCATCCGACTAACG|ACATGGCCGCTTACCAACAAGAAGAGCAGATGCAGC

LH00995:48:23YTGFLT4:1:1345:24421:3957,LH00995:48:23YTGFLT4:1:1345:24429:3971,LH00995:48:23YTGFLT4:8:2206:50834:11173

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43648066

CDS/splice-site

duplication

493

378

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000381761.6

upstream

downstream

duplicates(1),mismappers(2),mismatches(1)

CTGCCAGTCTGAAGCACCGAGATG|CAGACATGGCCGCTTACCAACAAGAAGAGCAGATGCAGCTTCCCCGAGCTGATGCCATTCGTTCACGTCTCATCGATACTTTCTCTCTCATTGAGCATTTGCAAGGCTTGAGCCAAGCTGTGCCGCGGCACAC

ASLKHRD|aDMAAYQQEEQMQLPRADAIRSRLIDTFSLIEHLQGLSQAVPRH

LH00995:48:23YTGFLT4:2:1463:47275:7614,LH00995:48:23YTGFLT4:2:2316:34120:22607,LH00995:48:23YTGFLT4:3:2284:36944:13625,LH00995:48:23YTGFLT4:4:2480:7998:27609

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43640496

CDS/splice-site

duplication

493

223

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(90%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000396879.8

upstream

downstream

duplicates(3),mismappers(2)

GGACTACGCCCGCAGCCATGGCAAAAAGCTACCACCTGCCAGTCTGAAGCACCGAGATG|AATTGCTGGAATCCACAAATACCAAACTATGGCCATTGAAGCTGACCTTGGAGGTGGCAGCTTGGTTTATCTTGCTTATTTTCATCCTGGAGATCCTTCTTAAGTGGCTATCCAACTTTTCTGTTTTCTGGAAGAGTGCCTGGAATGTCTTTGACTTTGTTGTT

DYARSHGKKLPPASLKHRD|eLLESTNTKLWPLKLTLEVAAWFILLIFILEILLKWLSNFSVFWKSAWNVFDFV

LH00995:48:23YTGFLT4:3:1288:45697:10430,LH00995:48:23YTGFLT4:4:2288:50381:26671,LH00995:48:23YTGFLT4:8:1277:50972:17184,LH00995:48:23YTGFLT4:8:1394:30140:28380,LH00995:48:23YTGFLT4:8:2235:10773:20141

LINC00486

THOC1

+/+

-/-

chr2:32916562

chr18:268018

intron

CDS/splice-site

translocation

65535

168

low

|Death_domain(100%),THO_complex_subunit_1_transcription_elongation_factor(100%)

ENSG00000230876.8

ENSG00000079134.12

ENST00000261600.11

downstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGAGGGGG|TGTCTCCGACGCCGCCGCTCTTCAGTTTGCCCGAAGCGCGGACGCGGTTTACG___AAGTCTACCAGAGAGGtCTTGAACAACAAAAACATCA

LH00995:48:23YTGFLT4:4:1141:39411:15601

103 rows