aih-tih-sc-13d441-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-13d441-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-13d441-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/95/45b3de326a11d1a64002f6adf0942b/aih-tih-sc-13d441-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 854.7 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-13d441-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

102

1314

651

high

stop-codon

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(130),low_entropy(1),mismappers(2),mismatches(2)

GTAGAGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGG

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TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3349

651

medium

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(44),low_entropy(1)

GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTG

AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:2147:10821:13891,LH00995:48:23YTGFLT4:2:1389:5919:2065,LH00995:48:23YTGFLT4:2:2224:13127:9029,LH00995:48:23YTGFLT4:2:2236:18887:23686,LH00995:48:23YTGFLT4:3:2376:50705:26474,LH00995:48:23YTGFLT4:4:1109:36669:7740,LH00995:48:23YTGFLT4:4:1175:43545:9365,LH00995:48:23YTGFLT4:5:1103:42963:1575,LH00995:48:23YTGFLT4:5:1175:25173:25269,LH00995:48:23YTGFLT4:5:1186:40220:25550,LH00995:48:23YTGFLT4:5:1326:28401:24919,LH00995:48:23YTGFLT4:5:2362:34525:4419,LH00995:48:23YTGFLT4:5:2478:48917:3536,LH00995:48:23YTGFLT4:6:1349:31758:23700,LH00995:48:23YTGFLT4:6:2240:27956:22523,LH00995:48:23YTGFLT4:6:2396:14292:19762,LH00995:48:23YTGFLT4:7:1149:20998:19608,LH00995:48:23YTGFLT4:7:1149:21007:19622,LH00995:48:23YTGFLT4:7:1390:2691:1771,LH00995:48:23YTGFLT4:7:2114:10077:16357,LH00995:48:23YTGFLT4:7:2156:20699:14354,LH00995:48:23YTGFLT4:7:2355:42041:24022,LH00995:48:23YTGFLT4:7:2405:31661:2373,LH00995:48:23YTGFLT4:7:2429:8718:12686,LH00995:48:23YTGFLT4:8:1383:17827:3354,LH00995:48:23YTGFLT4:8:2160:15085:5666,LH00995:48:23YTGFLT4:8:2425:34654:13079,LH00995:48:23YTGFLT4:1:1131:50398:10416,LH00995:48:23YTGFLT4:1:1141:5183:9337,LH00995:48:23YTGFLT4:1:1173:43739:1378,LH00995:48:23YTGFLT4:1:1276:39872:1546,LH00995:48:23YTGFLT4:1:1407:19971:20631,LH00995:48:23YTGFLT4:1:1408:15149:8497,LH00995:48:23YTGFLT4:1:1469:36192:6689,LH00995:48:23YTGFLT4:1:2222:46288:11677,LH00995:48:23YTGFLT4:1:2372:43926:15124,LH00995:48:23YTGFLT4:2:1116:10271:12014,LH00995:48:23YTGFLT4:2:1170:19405:27749,LH00995:48:23YTGFLT4:2:1295:47113:2653,LH00995:48:23YTGFLT4:2:1359:37850:23630,LH00995:48:23YTGFLT4:2:1427:13628:27329,LH00995:48:23YTGFLT4:2:1435:14470:26516,LH00995:48:23YTGFLT4:2:2235:2246:9884,LH00995:48:23YTGFLT4:2:2292:29258:10795,LH00995:48:23YTGFLT4:3:1106:12269:24302,LH00995:48:23YTGFLT4:3:1144:13216:19524,LH00995:48:23YTGFLT4:3:1188:37923:17899,LH00995:48:23YTGFLT4:3:1226:22172:10206,LH00995:48:23YTGFLT4:3:1226:31111:13303,LH00995:48:23YTGFLT4:3:1321:40293:27609,LH00995:48:23YTGFLT4:3:1355:6987:4503,LH00995:48:23YTGFLT4:3:1368:14834:28969,LH00995:48:23YTGFLT4:3:1408:39080:13233,LH00995:48:23YTGFLT4:3:2174:26864:3648,LH00995:48:23YTGFLT4:3:2217:20732:6451,LH00995:48:23YTGFLT4:3:2269:8127:27049,LH00995:48:23YTGFLT4:3:2311:24275:14774,LH00995:48:23YTGFLT4:3:2405:9276:8973,LH00995:48:23YTGFLT4:4:1404:39096:29011,LH00995:48:23YTGFLT4:4:2177:9770:20001,LH00995:48:23YTGFLT4:4:2363:37381:9449,LH00995:48:23YTGFLT4:5:1254:10506:13205,LH00995:48:23YTGFLT4:5:1385:15117:3564,LH00995:48:23YTGFLT4:5:2150:17172:27021,LH00995:48:23YTGFLT4:5:2240:9422:18641,LH00995:48:23YTGFLT4:5:2254:8694:16119,LH00995:48:23YTGFLT4:5:2340:48205:11299,LH00995:48:23YTGFLT4:5:2471:51619:17156,LH00995:48:23YTGFLT4:6:1361:17026:29711,LH00995:48:23YTGFLT4:6:1416:47105:26264,LH00995:48:23YTGFLT4:6:2108:6623:23238,LH00995:48:23YTGFLT4:6:2247:10587:27749,LH00995:48:23YTGFLT4:6:2301:25691:19104,LH00995:48:23YTGFLT4:6:2348:33587:23083,LH00995:48:23YTGFLT4:6:2350:17868:6731,LH00995:48:23YTGFLT4:6:2459:8427:3915,LH00995:48:23YTGFLT4:7:1114:11129:5736,LH00995:48:23YTGFLT4:7:1124:35310:10991,LH00995:48:23YTGFLT4:7:1252:3435:21136,LH00995:48:23YTGFLT4:7:1292:33320:10486,LH00995:48:23YTGFLT4:7:2114:26378:26657,LH00995:48:23YTGFLT4:7:2129:38206:21052,LH00995:48:23YTGFLT4:7:2149:44557:14872,LH00995:48:23YTGFLT4:7:2271:44548:3536,LH00995:48:23YTGFLT4:7:2354:8160:10935,LH00995:48:23YTGFLT4:7:2497:23013:10739,LH00995:48:23YTGFLT4:7:2497:23021:10725,LH00995:48:23YTGFLT4:8:1333:25189:5932,LH00995:48:23YTGFLT4:8:2183:17309:3802,LH00995:48:23YTGFLT4:8:2183:17318:3788,LH00995:48:23YTGFLT4:8:2244:30909:25451,LH00995:48:23YTGFLT4:8:2394:33570:23868

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

651

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(6)

GCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGT

LH00995:48:23YTGFLT4:1:1355:39241:18445,LH00995:48:23YTGFLT4:1:2383:51198:5218,LH00995:48:23YTGFLT4:1:2432:4859:15082,LH00995:48:23YTGFLT4:2:1306:18709:23322,LH00995:48:23YTGFLT4:3:1210:3751:10528,LH00995:48:23YTGFLT4:3:2108:31774:4559,LH00995:48:23YTGFLT4:3:2322:14340:25087,LH00995:48:23YTGFLT4:3:2435:35415:2317,LH00995:48:23YTGFLT4:4:1130:28110:3004,LH00995:48:23YTGFLT4:4:1346:10457:18557,LH00995:48:23YTGFLT4:4:1493:27487:16189,LH00995:48:23YTGFLT4:4:2326:1049:2794,LH00995:48:23YTGFLT4:5:1227:1752:7404,LH00995:48:23YTGFLT4:6:1140:25173:4559,LH00995:48:23YTGFLT4:6:1168:38432:27133,LH00995:48:23YTGFLT4:6:1407:37696:24849,LH00995:48:23YTGFLT4:7:1349:14866:26306,LH00995:48:23YTGFLT4:7:2365:1534:3298,LH00995:48:23YTGFLT4:8:1125:32324:12070,LH00995:48:23YTGFLT4:8:1423:33514:21304

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

3349

1054

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(8),low_entropy(1)

GGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTG

VIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:2:2476:2982:4657,LH00995:48:23YTGFLT4:3:2307:7553:11033,LH00995:48:23YTGFLT4:4:1320:28377:9155,LH00995:48:23YTGFLT4:4:2459:25141:3186,LH00995:48:23YTGFLT4:5:2441:11525:26544,LH00995:48:23YTGFLT4:5:2441:11533:26558,LH00995:48:23YTGFLT4:7:1389:41992:7488,LH00995:48:23YTGFLT4:1:1440:9219:12378,LH00995:48:23YTGFLT4:1:1440:9228:12364,LH00995:48:23YTGFLT4:1:2364:20780:17857,LH00995:48:23YTGFLT4:3:1188:20610:4447,LH00995:48:23YTGFLT4:3:2209:30674:19524,LH00995:48:23YTGFLT4:5:1417:41806:23644,LH00995:48:23YTGFLT4:6:2179:47178:8118,LH00995:48:23YTGFLT4:7:1489:18895:15461

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1652

651

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

TTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAgAAGACTCATTGAGAAAAG

AFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:3:1479:8613:18557,LH00995:48:23YTGFLT4:4:1409:14931:29249

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

CTCACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCT

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

LH00995:48:23YTGFLT4:1:1153:49839:1434,LH00995:48:23YTGFLT4:1:1153:49847:1448,LH00995:48:23YTGFLT4:1:1367:9203:5960,LH00995:48:23YTGFLT4:1:1390:40714:25564,LH00995:48:23YTGFLT4:1:1416:15222:2205,LH00995:48:23YTGFLT4:1:1442:51490:17296,LH00995:48:23YTGFLT4:1:2244:39185:23223,LH00995:48:23YTGFLT4:1:2249:48278:15573,LH00995:48:23YTGFLT4:1:2414:9252:28604,LH00995:48:23YTGFLT4:2:1118:45932:16666,LH00995:48:23YTGFLT4:2:1134:42445:7712,LH00995:48:23YTGFLT4:2:1221:10368:7978,LH00995:48:23YTGFLT4:2:1246:6906:7782,LH00995:48:23YTGFLT4:2:1260:4414:12798,LH00995:48:23YTGFLT4:2:1260:4422:12784,LH00995:48:23YTGFLT4:2:1283:39978:8763,LH00995:48:23YTGFLT4:2:1283:39994:8763,LH00995:48:23YTGFLT4:2:1324:24493:16610,LH00995:48:23YTGFLT4:2:1324:24501:16624,LH00995:48:23YTGFLT4:2:1387:7148:6773,LH00995:48:23YTGFLT4:2:1388:37785:28170,LH00995:48:23YTGFLT4:2:1390:13475:9547,LH00995:48:23YTGFLT4:2:1405:18159:13177,LH00995:48:23YTGFLT4:2:1431:11784:1518,LH00995:48:23YTGFLT4:2:1441:13475:7165,LH00995:48:23YTGFLT4:2:1459:4382:1645,LH00995:48:23YTGFLT4:2:1467:27794:22551,LH00995:48:23YTGFLT4:2:1467:27802:22565,LH00995:48:23YTGFLT4:2:2115:45754:20785,LH00995:48:23YTGFLT4:2:2120:25197:9786,LH00995:48:23YTGFLT4:2:2247:46247:29095,LH00995:48:23YTGFLT4:2:2361:8896:17198,LH00995:48:23YTGFLT4:2:2367:22552:18824,LH00995:48:23YTGFLT4:2:2423:17657:5274,LH00995:48:23YTGFLT4:2:2426:11760:4419,LH00995:48:23YTGFLT4:2:2448:17423:21626,LH00995:48:23YTGFLT4:2:2453:47032:29529,LH00995:48:23YTGFLT4:2:2486:43820:13765,LH00995:48:23YTGFLT4:3:1110:25901:11902,LH00995:48:23YTGFLT4:3:1311:51271:10753,LH00995:48:23YTGFLT4:3:1337:33053:7446,LH00995:48:23YTGFLT4:3:1355:36895:27581,LH00995:48:23YTGFLT4:3:1373:1283:24471,LH00995:48:23YTGFLT4:3:1415:45196:25844,LH00995:48:23YTGFLT4:3:1427:3783:14059,LH00995:48:23YTGFLT4:3:1452:36111:8679,LH00995:48:23YTGFLT4:3:1452:36111:8707,LH00995:48:23YTGFLT4:3:1452:36119:8693,LH00995:48:23YTGFLT4:3:1454:3629:7880,LH00995:48:23YTGFLT4:3:1464:21735:17240,LH00995:48:23YTGFLT4:3:1493:28190:2051,LH00995:48:23YTGFLT4:3:2108:14769:11145,LH00995:48:23YTGFLT4:3:2159:3718:20225,LH00995:48:23YTGFLT4:3:2170:12229:20925,LH00995:48:23YTGFLT4:3:2204:42922:3915,LH00995:48:23YTGFLT4:3:2210:23288:12112,LH00995:48:23YTGFLT4:3:2254:48375:1308,LH00995:48:23YTGFLT4:3:2273:37672:17913,LH00995:48:23YTGFLT4:3:2284:11792:25998,LH00995:48:23YTGFLT4:3:2305:32074:20015,LH00995:48:23YTGFLT4:3:2314:17892:2794,LH00995:48:23YTGFLT4:3:2347:23288:5106,LH00995:48:23YTGFLT4:3:2402:8499:23910,LH00995:48:23YTGFLT4:3:2450:12577:25115,LH00995:48:23YTGFLT4:4:1108:50867:29249,LH00995:48:23YTGFLT4:4:1142:16751:1210,LH00995:48:23YTGFLT4:4:1142:16767:1210,LH00995:48:23YTGFLT4:4:1145:21670:13149,LH00995:48:23YTGFLT4:4:1234:6558:22593,LH00995:48:23YTGFLT4:4:1248:21508:6563,LH00995:48:23YTGFLT4:4:1260:39476:26979,LH00995:48:23YTGFLT4:4:1322:9859:1883,LH00995:48:23YTGFLT4:4:1322:9867:1897,LH00995:48:23YTGFLT4:4:1330:42542:28534,LH00995:48:23YTGFLT4:4:1397:8224:25283,LH00995:48:23YTGFLT4:4:1415:1712:3466,LH00995:48:23YTGFLT4:4:1450:44233:13191,LH00995:48:23YTGFLT4:4:1483:18944:17170,LH00995:48:23YTGFLT4:4:2156:16193:15208,LH00995:48:23YTGFLT4:4:2158:47873:18431,LH00995:48:23YTGFLT4:4:2181:23814:24737,LH00995:48:23YTGFLT4:4:2197:20505:6255,LH00995:48:23YTGFLT4:4:2197:4552:7768,LH00995:48:23YTGFLT4:4:2251:38772:13569,LH00995:48:23YTGFLT4:4:2301:35690:8370,LH00995:48:23YTGFLT4:4:2381:35997:6016,LH00995:48:23YTGFLT4:5:1145:17172:22705,LH00995:48:23YTGFLT4:5:1158:17180:29277,LH00995:48:23YTGFLT4:5:1257:4754:26895,LH00995:48:23YTGFLT4:5:2102:16654:6114,LH00995:48:23YTGFLT4:5:2106:43011:27665,LH00995:48:23YTGFLT4:5:2138:14664:21668,LH00995:48:23YTGFLT4:5:2183:29153:11285,LH00995:48:23YTGFLT4:5:2188:4891:13485,LH00995:48:23YTGFLT4:5:2249:22714:5148,LH00995:48:23YTGFLT4:5:2356:15829:11719,LH00995:48:23YTGFLT4:5:2361:45123:6577,LH00995:48:23YTGFLT4:5:2363:25529:11902,LH00995:48:23YTGFLT4:5:2439:22851:20351,LH00995:48:23YTGFLT4:6:1137:38052:8735,LH00995:48:23YTGFLT4:6:1150:30318:24821,LH00995:48:23YTGFLT4:6:1288:10708:16554,LH00995:48:23YTGFLT4:6:1290:3378:15713,LH00995:48:23YTGFLT4:6:1297:2683:26586,LH00995:48:23YTGFLT4:6:1311:17091:25339,LH00995:48:23YTGFLT4:6:1330:48132:6885,LH00995:48:23YTGFLT4:6:1358:11646:8174,LH00995:48:23YTGFLT4:6:1367:24906:29347,LH00995:48:23YTGFLT4:6:1376:40868:21906,LH00995:48:23YTGFLT4:6:1419:50648:8328,LH00995:48:23YTGFLT4:6:1419:50665:8328,LH00995:48:23YTGFLT4:6:1445:47259:11817,LH00995:48:23YTGFLT4:6:1458:45527:9996,LH00995:48:23YTGFLT4:6:1463:19639:22607,LH00995:48:23YTGFLT4:6:2126:47299:15699,LH00995:48:23YTGFLT4:6:2151:5450:28072,LH00995:48:23YTGFLT4:6:2154:26354:22327,LH00995:48:23YTGFLT4:6:2203:50883:23055,LH00995:48:23YTGFLT4:6:2230:38327:1252,LH00995:48:23YTGFLT4:6:2253:18709:25451,LH00995:48:23YTGFLT4:6:2279:46984:15405,LH00995:48:23YTGFLT4:6:2279:9017:1406,LH00995:48:23YTGFLT4:6:2295:1688:17829,LH00995:48:23YTGFLT4:6:2304:2133:20365,LH00995:48:23YTGFLT4:6:2315:43837:13569,LH00995:48:23YTGFLT4:6:2343:10004:28310,LH00995:48:23YTGFLT4:6:2470:5409:12280,LH00995:48:23YTGFLT4:7:1153:3427:18095,LH00995:48:23YTGFLT4:7:1197:8637:27567,LH00995:48:23YTGFLT4:7:1202:24057:18375,LH00995:48:23YTGFLT4:7:1259:16784:10346,LH00995:48:23YTGFLT4:7:1285:13661:4461,LH00995:48:23YTGFLT4:7:1286:24768:16946,LH00995:48:23YTGFLT4:7:1294:29760:1322,LH00995:48:23YTGFLT4:7:1314:9964:9912,LH00995:48:23YTGFLT4:7:1315:24307:16007,LH00995:48:23YTGFLT4:7:1317:24623:26727,LH00995:48:23YTGFLT4:7:1317:24631:26713,LH00995:48:23YTGFLT4:7:1345:2569:20841,LH00995:48:23YTGFLT4:7:1444:44419:18641,LH00995:48:23YTGFLT4:7:1445:43796:16582,LH00995:48:23YTGFLT4:7:1469:30229:27946,LH00995:48:23YTGFLT4:7:2145:3476:8679,LH00995:48:23YTGFLT4:7:2432:11323:7502,LH00995:48:23YTGFLT4:7:2433:33376:15825,LH00995:48:23YTGFLT4:7:2435:24477:15068,LH00995:48:23YTGFLT4:7:2446:27980:20351,LH00995:48:23YTGFLT4:7:2482:44476:10444,LH00995:48:23YTGFLT4:8:1106:43464:7376,LH00995:48:23YTGFLT4:8:1106:43481:7376,LH00995:48:23YTGFLT4:8:1155:10570:20659,LH00995:48:23YTGFLT4:8:1186:23458:10612,LH00995:48:23YTGFLT4:8:1257:24501:28562,LH00995:48:23YTGFLT4:8:1275:39889:2135,LH00995:48:23YTGFLT4:8:1303:47873:27063,LH00995:48:23YTGFLT4:8:1365:37332:10430,LH00995:48:23YTGFLT4:8:1370:18458:7109,LH00995:48:23YTGFLT4:8:2107:19939:13177,LH00995:48:23YTGFLT4:8:2108:48844:10360,LH00995:48:23YTGFLT4:8:2135:34129:22201,LH00995:48:23YTGFLT4:8:2247:14696:2191,LH00995:48:23YTGFLT4:8:2284:23943:5652,LH00995:48:23YTGFLT4:8:2312:34274:20463,LH00995:48:23YTGFLT4:8:2314:17002:16021,LH00995:48:23YTGFLT4:8:2314:17010:16035,LH00995:48:23YTGFLT4:8:2345:12075:5918,LH00995:48:23YTGFLT4:8:2351:5247:3676,LH00995:48:23YTGFLT4:8:2369:9891:10514,LH00995:48:23YTGFLT4:8:2370:48278:7165,LH00995:48:23YTGFLT4:8:2408:48310:9884,LH00995:48:23YTGFLT4:8:2426:1874:6072,LH00995:48:23YTGFLT4:8:2497:4058:13079,LH00995:48:23YTGFLT4:1:1144:10376:6647,LH00995:48:23YTGFLT4:1:1144:10384:6633,LH00995:48:23YTGFLT4:1:1216:10174:21094,LH00995:48:23YTGFLT4:1:1226:12925:25662,LH00995:48:23YTGFLT4:1:1226:12933:25648,LH00995:48:23YTGFLT4:1:1226:12941:25662,LH00995:48:23YTGFLT4:1:1228:22252:8777,LH00995:48:23YTGFLT4:1:1263:51474:13429,LH00995:48:23YTGFLT4:1:1263:51482:13443,LH00995:48:23YTGFLT4:1:1358:24000:17100,LH00995:48:23YTGFLT4:1:2134:47000:14648,LH00995:48:23YTGFLT4:1:2277:15416:11453,LH00995:48:23YTGFLT4:1:2277:15424:11467,LH00995:48:23YTGFLT4:1:2290:40665:9786,LH00995:48:23YTGFLT4:1:2317:3411:12686,LH00995:48:23YTGFLT4:2:1110:9163:18866,LH00995:48:23YTGFLT4:2:1134:22487:26530,LH00995:48:23YTGFLT4:2:1192:1858:2149,LH00995:48:23YTGFLT4:2:1211:32850:15138,LH00995:48:23YTGFLT4:2:1233:19219:12406,LH00995:48:23YTGFLT4:2:1247:44524:25942,LH00995:48:23YTGFLT4:2:1247:44532:25928,LH00995:48:23YTGFLT4:2:1247:44540:25942,LH00995:48:23YTGFLT4:2:1374:19186:7754,LH00995:48:23YTGFLT4:2:1498:9681:24639,LH00995:48:23YTGFLT4:2:2197:5903:23364,LH00995:48:23YTGFLT4:2:2207:38619:19833,LH00995:48:23YTGFLT4:2:2240:27228:8006,LH00995:48:23YTGFLT4:2:2312:28652:27595,LH00995:48:23YTGFLT4:3:1169:33837:17044,LH00995:48:23YTGFLT4:3:1228:2214:14704,LH00995:48:23YTGFLT4:3:1228:2222:14718,LH00995:48:23YTGFLT4:3:1230:18232:5288,LH00995:48:23YTGFLT4:3:1247:42316:13485,LH00995:48:23YTGFLT4:3:1247:42332:13485,LH00995:48:23YTGFLT4:3:1256:35836:1112,LH00995:48:23YTGFLT4:3:1267:23490:19692,LH00995:48:23YTGFLT4:3:1348:4932:14620,LH00995:48:23YTGFLT4:3:1349:23579:25255,LH00995:48:23YTGFLT4:3:1368:26362:12336,LH00995:48:23YTGFLT4:3:1436:41774:16105,LH00995:48:23YTGFLT4:3:1442:41515:17226,LH00995:48:23YTGFLT4:3:1442:41523:17240,LH00995:48:23YTGFLT4:3:1497:4236:9576,LH00995:48:23YTGFLT4:3:2124:29776:10823,LH00995:48:23YTGFLT4:3:2124:29784:10837,LH00995:48:23YTGFLT4:3:2127:32745:13191,LH00995:48:23YTGFLT4:3:2145:31782:24527,LH00995:48:23YTGFLT4:3:2146:28457:15124,LH00995:48:23YTGFLT4:3:2176:19793:5414,LH00995:48:23YTGFLT4:3:2219:45988:3844,LH00995:48:23YTGFLT4:3:2242:50276:28450,LH00995:48:23YTGFLT4:3:2293:33530:12196,LH00995:48:23YTGFLT4:3:2358:6614:4167,LH00995:48:23YTGFLT4:3:2395:23943:8567,LH00995:48:23YTGFLT4:3:2415:20529:19861,LH00995:48:23YTGFLT4:3:2474:34954:23742,LH00995:48:23YTGFLT4:3:2474:34962:23700,LH00995:48:23YTGFLT4:3:2474:34962:23728,LH00995:48:23YTGFLT4:3:2474:34970:23714,LH00995:48:23YTGFLT4:4:1156:26516:23616,LH00995:48:23YTGFLT4:4:1157:25262:9533,LH00995:48:23YTGFLT4:4:1218:11396:2695,LH00995:48:23YTGFLT4:4:1290:23288:18894,LH00995:48:23YTGFLT4:4:1290:25869:18375,LH00995:48:23YTGFLT4:4:1313:44330:13107,LH00995:48:23YTGFLT4:4:1324:34671:11089,LH00995:48:23YTGFLT4:4:1361:4422:1266,LH00995:48:23YTGFLT4:4:1429:19453:17913,LH00995:48:23YTGFLT4:4:1466:22333:3004,LH00995:48:23YTGFLT4:4:2201:36305:25409,LH00995:48:23YTGFLT4:4:2287:33910:5344,LH00995:48:23YTGFLT4:4:2344:41490:26628,LH00995:48:23YTGFLT4:4:2349:12731:11621,LH00995:48:23YTGFLT4:4:2349:12747:11621,LH00995:48:23YTGFLT4:4:2350:33951:20771,LH00995:48:23YTGFLT4:4:2388:41523:22957,LH00995:48:23YTGFLT4:4:2388:41531:22971,LH00995:48:23YTGFLT4:4:2455:9017:18501,LH00995:48:23YTGFLT4:5:1113:5627:24457,LH00995:48:23YTGFLT4:5:1146:25294:9057,LH00995:48:23YTGFLT4:5:1301:36758:26026,LH00995:48:23YTGFLT4:5:1352:32923:17619,LH00995:48:23YTGFLT4:5:1417:43270:13821,LH00995:48:23YTGFLT4:5:1419:29412:21542,LH00995:48:23YTGFLT4:5:2103:35860:11243,LH00995:48:23YTGFLT4:5:2105:35868:6605,LH00995:48:23YTGFLT4:5:2154:38182:2233,LH00995:48:23YTGFLT4:5:2195:5272:6493,LH00995:48:23YTGFLT4:5:2211:40730:21220,LH00995:48:23YTGFLT4:5:2219:29703:23560,LH00995:48:23YTGFLT4:5:2334:45430:17591,LH00995:48:23YTGFLT4:5:2337:14526:28632,LH00995:48:23YTGFLT4:5:2352:21702:15615,LH00995:48:23YTGFLT4:5:2448:22592:8945,LH00995:48:23YTGFLT4:5:2477:28037:10612,LH00995:48:23YTGFLT4:5:2479:22261:13331,LH00995:48:23YTGFLT4:6:1112:39161:6731,LH00995:48:23YTGFLT4:6:1164:32956:28997,LH00995:48:23YTGFLT4:6:1247:44686:2597,LH00995:48:23YTGFLT4:6:1306:26864:17745,LH00995:48:23YTGFLT4:6:1312:42332:19734,LH00995:48:23YTGFLT4:6:1319:45908:16456,LH00995:48:23YTGFLT4:6:1353:3023:10472,LH00995:48:23YTGFLT4:6:1422:18402:23462,LH00995:48:23YTGFLT4:6:1425:15424:21416,LH00995:48:23YTGFLT4:6:1464:32624:4909,LH00995:48:23YTGFLT4:6:2110:31499:25802,LH00995:48:23YTGFLT4:6:2125:46344:5974,LH00995:48:23YTGFLT4:6:2256:11428:16456,LH00995:48:23YTGFLT4:6:2367:4163:7768,LH00995:48:23YTGFLT4:6:2390:39484:15391,LH00995:48:23YTGFLT4:6:2441:47356:13583,LH00995:48:23YTGFLT4:6:2442:20643:12126,LH00995:48:23YTGFLT4:6:2448:17439:16834,LH00995:48:23YTGFLT4:6:2477:32155:24975,LH00995:48:23YTGFLT4:6:2481:52121:5386,LH00995:48:23YTGFLT4:7:1193:32478:22761,LH00995:48:23YTGFLT4:7:1250:34323:4881,LH00995:48:23YTGFLT4:7:1280:11735:1546,LH00995:48:23YTGFLT4:7:1303:7885:13401,LH00995:48:23YTGFLT4:7:1335:31305:27651,LH00995:48:23YTGFLT4:7:1344:29364:29361,LH00995:48:23YTGFLT4:7:1365:41806:7726,LH00995:48:23YTGFLT4:7:1417:35649:28030,LH00995:48:23YTGFLT4:7:2106:39314:11481,LH00995:48:23YTGFLT4:7:2111:38667:27371,LH00995:48:23YTGFLT4:7:2136:40350:3382,LH00995:48:23YTGFLT4:7:2136:40358:3396,LH00995:48:23YTGFLT4:7:2179:31394:12840,LH00995:48:23YTGFLT4:7:2264:15093:24429,LH00995:48:23YTGFLT4:7:2265:26314:27946,LH00995:48:23YTGFLT4:7:2286:22390:9267,LH00995:48:23YTGFLT4:7:2419:44605:14536,LH00995:48:23YTGFLT4:7:2435:38222:19650,LH00995:48:23YTGFLT4:7:2487:22147:7221,LH00995:48:23YTGFLT4:8:1102:24097:26292,LH00995:48:23YTGFLT4:8:1102:24105:26278,LH00995:48:23YTGFLT4:8:1241:44217:29641,LH00995:48:23YTGFLT4:8:1241:44233:29641,LH00995:48:23YTGFLT4:8:1262:9260:2695,LH00995:48:23YTGFLT4:8:1276:12391:1504,LH00995:48:23YTGFLT4:8:1276:12399:1490,LH00995:48:23YTGFLT4:8:1314:40487:23350,LH00995:48:23YTGFLT4:8:1314:40503:23350,LH00995:48:23YTGFLT4:8:1363:23612:18922,LH00995:48:23YTGFLT4:8:2156:16233:7796,LH00995:48:23YTGFLT4:8:2173:11938:21430,LH00995:48:23YTGFLT4:8:2213:12326:16245,LH00995:48:23YTGFLT4:8:2265:42575:14466,LH00995:48:23YTGFLT4:8:2488:11792:28352

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

551

11451

high

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(188),low_entropy(1),mismappers(2),mismatches(3)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1922

549

high

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(60),mismappers(5),mismatches(10)

TGGAGACGATAACACTCTTTACCATCGG___...GCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|G?TGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCCCC

QIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|?gyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1146:45665:1294,LH00995:48:23YTGFLT4:1:1146:45673:1280,LH00995:48:23YTGFLT4:1:1146:45681:1294,LH00995:48:23YTGFLT4:1:1146:45689:1280,LH00995:48:23YTGFLT4:1:1157:17471:21234,LH00995:48:23YTGFLT4:1:1168:25043:3158,LH00995:48:23YTGFLT4:1:1256:12957:8595,LH00995:48:23YTGFLT4:1:1282:13782:2121,LH00995:48:23YTGFLT4:1:1283:19300:23195,LH00995:48:23YTGFLT4:1:1283:19308:23209,LH00995:48:23YTGFLT4:1:1309:21298:17885,LH00995:48:23YTGFLT4:1:1397:27228:23532,LH00995:48:23YTGFLT4:1:1415:17884:22257,LH00995:48:23YTGFLT4:1:2138:26661:10809,LH00995:48:23YTGFLT4:1:2141:46442:14606,LH00995:48:23YTGFLT4:1:2155:25974:6843,LH00995:48:23YTGFLT4:1:2233:32041:28226,LH00995:48:23YTGFLT4:1:2236:14826:21164,LH00995:48:23YTGFLT4:1:2331:33587:22887,LH00995:48:23YTGFLT4:1:2334:20651:20407,LH00995:48:23YTGFLT4:1:2430:29250:6016,LH00995:48:23YTGFLT4:2:1102:38505:26082,LH00995:48:23YTGFLT4:2:1102:38513:26096,LH00995:48:23YTGFLT4:2:1135:9689:7586,LH00995:48:23YTGFLT4:2:1223:22722:17997,LH00995:48:23YTGFLT4:2:1223:23029:21080,LH00995:48:23YTGFLT4:2:1282:5466:5372,LH00995:48:23YTGFLT4:2:1322:35294:12672,LH00995:48:23YTGFLT4:2:1342:48877:13919,LH00995:48:23YTGFLT4:2:1376:13952:9814,LH00995:48:23YTGFLT4:2:1408:27066:11874,LH00995:48:23YTGFLT4:2:1408:36879:3873,LH00995:48:23YTGFLT4:2:1439:20020:2892,LH00995:48:23YTGFLT4:2:1444:13240:6843,LH00995:48:23YTGFLT4:2:2112:40382:2738,LH00995:48:23YTGFLT4:2:2239:42388:11481,LH00995:48:23YTGFLT4:2:2239:42405:11481,LH00995:48:23YTGFLT4:2:2247:1469:25550,LH00995:48:23YTGFLT4:2:2277:13855:4825,LH00995:48:23YTGFLT4:2:2391:18466:20239,LH00995:48:23YTGFLT4:2:2489:50721:14284,LH00995:48:23YTGFLT4:3:1226:26516:2990,LH00995:48:23YTGFLT4:3:1360:25092:3830,LH00995:48:23YTGFLT4:3:1477:26136:5134,LH00995:48:23YTGFLT4:3:1477:26144:5120,LH00995:48:23YTGFLT4:3:2206:5676:18179,LH00995:48:23YTGFLT4:3:2418:40188:5904,LH00995:48:23YTGFLT4:3:2478:38238:23209,LH00995:48:23YTGFLT4:3:2492:36952:25381,LH00995:48:23YTGFLT4:4:1113:41701:24106,LH00995:48:23YTGFLT4:4:1202:27106:28478,LH00995:48:23YTGFLT4:4:1223:8766:21318,LH00995:48:23YTGFLT4:4:1267:27835:19819,LH00995:48:23YTGFLT4:4:1321:35577:19720,LH00995:48:23YTGFLT4:4:1322:41612:22159,LH00995:48:23YTGFLT4:4:1414:19680:15587,LH00995:48:23YTGFLT4:4:1489:34776:15054,LH00995:48:23YTGFLT4:4:2115:19089:14228,LH00995:48:23YTGFLT4:4:2190:7723:10346,LH00995:48:23YTGFLT4:4:2325:46312:8861,LH00995:48:23YTGFLT4:4:2431:16007:20099,LH00995:48:23YTGFLT4:5:1138:33303:16792,LH00995:48:23YTGFLT4:5:1244:27098:3102,LH00995:48:23YTGFLT4:5:1256:17868:13289,LH00995:48:23YTGFLT4:5:1264:7739:1154,LH00995:48:23YTGFLT4:5:1264:7747:1168,LH00995:48:23YTGFLT4:5:1394:32203:11439,LH00995:48:23YTGFLT4:5:2115:3799:13919,LH00995:48:23YTGFLT4:5:2142:21824:19636,LH00995:48:23YTGFLT4:5:2142:21832:19622,LH00995:48:23YTGFLT4:5:2170:13103:23784,LH00995:48:23YTGFLT4:5:2241:22705:10150,LH00995:48:23YTGFLT4:5:2258:9406:8272,LH00995:48:23YTGFLT4:5:2298:43173:29067,LH00995:48:23YTGFLT4:5:2359:17115:10781,LH00995:48:23YTGFLT4:5:2361:26823:12350,LH00995:48:23YTGFLT4:5:2396:25933:17787,LH00995:48:23YTGFLT4:6:1186:38198:16582,LH00995:48:23YTGFLT4:6:1186:38206:16568,LH00995:48:23YTGFLT4:6:1385:20376:21360,LH00995:48:23YTGFLT4:6:1411:28571:4503,LH00995:48:23YTGFLT4:6:1411:28579:4517,LH00995:48:23YTGFLT4:6:2152:37081:6633,LH00995:48:23YTGFLT4:6:2249:1016:14536,LH00995:48:23YTGFLT4:6:2331:2505:11005,LH00995:48:23YTGFLT4:7:1109:47356:1617,LH00995:48:23YTGFLT4:7:1204:21516:18319,LH00995:48:23YTGFLT4:7:1253:14535:21976,LH00995:48:23YTGFLT4:7:1310:33271:2667,LH00995:48:23YTGFLT4:7:1366:3354:4433,LH00995:48:23YTGFLT4:7:1432:8605:7081,LH00995:48:23YTGFLT4:7:1432:8613:7095,LH00995:48:23YTGFLT4:7:2104:19850:20925,LH00995:48:23YTGFLT4:7:2195:6809:5148,LH00995:48:23YTGFLT4:7:2329:39419:8300,LH00995:48:23YTGFLT4:7:2439:16832:11747,LH00995:48:23YTGFLT4:8:1161:7229:17703,LH00995:48:23YTGFLT4:8:1320:15902:15657,LH00995:48:23YTGFLT4:8:1352:30860:15979,LH00995:48:23YTGFLT4:8:1353:7076:18277,LH00995:48:23YTGFLT4:8:1353:7092:18277,LH00995:48:23YTGFLT4:8:1409:23846:1140,LH00995:48:23YTGFLT4:8:1461:36386:17478,LH00995:48:23YTGFLT4:8:2155:9842:7516,LH00995:48:23YTGFLT4:8:2198:33506:1420,LH00995:48:23YTGFLT4:8:2270:10554:4657,LH00995:48:23YTGFLT4:8:2394:17649:17198,LH00995:48:23YTGFLT4:8:2467:13993:3999,LH00995:48:23YTGFLT4:1:1492:4171:24036,LH00995:48:23YTGFLT4:1:2244:1307:20169,LH00995:48:23YTGFLT4:1:2275:7456:15489,LH00995:48:23YTGFLT4:1:2275:7472:15489,LH00995:48:23YTGFLT4:1:2325:6396:25956,LH00995:48:23YTGFLT4:2:1146:37664:8595,LH00995:48:23YTGFLT4:2:1266:9753:24737,LH00995:48:23YTGFLT4:2:2156:4535:19987,LH00995:48:23YTGFLT4:2:2195:41960:27469,LH00995:48:23YTGFLT4:2:2337:23903:25059,LH00995:48:23YTGFLT4:2:2347:48035:7698,LH00995:48:23YTGFLT4:2:2429:30423:3032,LH00995:48:23YTGFLT4:3:1143:34234:15068,LH00995:48:23YTGFLT4:3:1204:2731:13891,LH00995:48:23YTGFLT4:3:1204:2739:13905,LH00995:48:23YTGFLT4:3:2120:24760:17016,LH00995:48:23YTGFLT4:3:2155:29186:18067,LH00995:48:23YTGFLT4:3:2211:6380:3088,LH00995:48:23YTGFLT4:3:2337:44880:10052,LH00995:48:23YTGFLT4:3:2428:44872:16876,LH00995:48:23YTGFLT4:3:2452:37907:5988,LH00995:48:23YTGFLT4:3:2468:7496:25732,LH00995:48:23YTGFLT4:4:1293:4657:19412,LH00995:48:23YTGFLT4:4:1319:34962:18347,LH00995:48:23YTGFLT4:4:1437:17431:18922,LH00995:48:23YTGFLT4:4:2117:1477:25311,LH00995:48:23YTGFLT4:4:2170:30092:21542,LH00995:48:23YTGFLT4:4:2170:31281:5134,LH00995:48:23YTGFLT4:4:2318:9438:4237,LH00995:48:23YTGFLT4:4:2428:46636:20211,LH00995:48:23YTGFLT4:4:2470:12067:22383,LH00995:48:23YTGFLT4:5:1122:51490:11271,LH00995:48:23YTGFLT4:5:1156:16436:24989,LH00995:48:23YTGFLT4:5:1245:19793:12616,LH00995:48:23YTGFLT4:5:1347:7512:3088,LH00995:48:23YTGFLT4:5:1353:46183:13541,LH00995:48:23YTGFLT4:5:1353:46199:13541,LH00995:48:23YTGFLT4:5:1358:4770:18179,LH00995:48:23YTGFLT4:5:1396:23183:3943,LH00995:48:23YTGFLT4:5:1396:23191:3957,LH00995:48:23YTGFLT4:5:1442:41159:8427,LH00995:48:23YTGFLT4:5:2166:43011:21780,LH00995:48:23YTGFLT4:5:2166:43028:21780,LH00995:48:23YTGFLT4:5:2207:42105:18417,LH00995:48:23YTGFLT4:5:2448:9106:19468,LH00995:48:23YTGFLT4:5:2463:20829:15923,LH00995:48:23YTGFLT4:6:1332:39072:1168,LH00995:48:23YTGFLT4:6:1336:5555:11635,LH00995:48:23YTGFLT4:6:2241:48246:10668,LH00995:48:23YTGFLT4:6:2333:44540:14368,LH00995:48:23YTGFLT4:6:2338:25472:21920,LH00995:48:23YTGFLT4:6:2346:25618:3004,LH00995:48:23YTGFLT4:6:2438:11655:17717,LH00995:48:23YTGFLT4:7:1175:46571:22509,LH00995:48:23YTGFLT4:7:1232:46045:4503,LH00995:48:23YTGFLT4:7:1305:47267:3873,LH00995:48:23YTGFLT4:7:1319:32252:20407,LH00995:48:23YTGFLT4:7:1349:6509:4377,LH00995:48:23YTGFLT4:7:1486:50001:26685,LH00995:48:23YTGFLT4:7:2335:51474:15671,LH00995:48:23YTGFLT4:7:2463:39978:8398,LH00995:48:23YTGFLT4:8:1130:10813:10542,LH00995:48:23YTGFLT4:8:1250:16331:3284,LH00995:48:23YTGFLT4:8:1305:3953:25956,LH00995:48:23YTGFLT4:8:1347:7294:18263,LH00995:48:23YTGFLT4:8:1380:27495:23238,LH00995:48:23YTGFLT4:8:1432:45535:18445,LH00995:48:23YTGFLT4:8:2305:31960:3424,LH00995:48:23YTGFLT4:8:2305:31977:3424,LH00995:48:23YTGFLT4:8:2493:16314:26264,LH00995:48:23YTGFLT4:1:2332:5716:5610,LH00995:48:23YTGFLT4:1:2332:5725:5624,LH00995:48:23YTGFLT4:2:1423:2432:25087,LH00995:48:23YTGFLT4:2:1423:2440:25101,LH00995:48:23YTGFLT4:3:2310:9592:5708,LH00995:48:23YTGFLT4:5:1333:28927:16414,LH00995:48:23YTGFLT4:7:1310:37907:11425,LH00995:48:23YTGFLT4:8:1149:43327:8483,LH00995:48:23YTGFLT4:8:1149:43335:8469,LH00995:48:23YTGFLT4:8:1149:43335:8497,LH00995:48:23YTGFLT4:8:2114:24526:25409

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

CCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

LH00995:48:23YTGFLT4:1:1219:46264:1126,LH00995:48:23YTGFLT4:1:1289:6097:28660,LH00995:48:23YTGFLT4:1:1339:6000:8651,LH00995:48:23YTGFLT4:1:1347:14704:14116,LH00995:48:23YTGFLT4:1:1385:44613:10458,LH00995:48:23YTGFLT4:1:1385:44621:10444,LH00995:48:23YTGFLT4:1:1385:44629:10458,LH00995:48:23YTGFLT4:1:2110:30706:19692,LH00995:48:23YTGFLT4:1:2123:25966:9547,LH00995:48:23YTGFLT4:1:2128:19639:28997,LH00995:48:23YTGFLT4:1:2130:7488:13303,LH00995:48:23YTGFLT4:1:2182:14001:3256,LH00995:48:23YTGFLT4:1:2230:29016:9842,LH00995:48:23YTGFLT4:1:2230:29024:9856,LH00995:48:23YTGFLT4:1:2279:24979:21878,LH00995:48:23YTGFLT4:1:2341:13709:5106,LH00995:48:23YTGFLT4:1:2352:39905:2667,LH00995:48:23YTGFLT4:1:2364:30949:8090,LH00995:48:23YTGFLT4:1:2462:6339:5680,LH00995:48:23YTGFLT4:2:1114:1356:3859,LH00995:48:23YTGFLT4:2:1114:1364:3873,LH00995:48:23YTGFLT4:2:1180:46951:8539,LH00995:48:23YTGFLT4:2:1194:51433:19945,LH00995:48:23YTGFLT4:2:1222:16541:25564,LH00995:48:23YTGFLT4:2:1222:16549:25550,LH00995:48:23YTGFLT4:2:1272:5401:6269,LH00995:48:23YTGFLT4:2:1291:46353:28856,LH00995:48:23YTGFLT4:2:1291:46361:28842,LH00995:48:23YTGFLT4:2:1367:18151:29585,LH00995:48:23YTGFLT4:2:1381:39516:5554,LH00995:48:23YTGFLT4:2:1427:32130:20477,LH00995:48:23YTGFLT4:2:1444:40447:24905,LH00995:48:23YTGFLT4:2:2104:26022:19538,LH00995:48:23YTGFLT4:2:2105:25739:7446,LH00995:48:23YTGFLT4:2:2112:47663:19748,LH00995:48:23YTGFLT4:2:2185:47501:22999,LH00995:48:23YTGFLT4:2:2207:25804:15713,LH00995:48:23YTGFLT4:2:2211:6396:19678,LH00995:48:23YTGFLT4:2:2229:10134:20127,LH00995:48:23YTGFLT4:2:2348:26006:2836,LH00995:48:23YTGFLT4:2:2365:24412:18684,LH00995:48:23YTGFLT4:2:2378:41321:29725,LH00995:48:23YTGFLT4:2:2419:40431:10220,LH00995:48:23YTGFLT4:2:2428:23061:10458,LH00995:48:23YTGFLT4:2:2435:50754:23784,LH00995:48:23YTGFLT4:2:2487:13612:28254,LH00995:48:23YTGFLT4:3:1127:20125:11705,LH00995:48:23YTGFLT4:3:1215:12253:26685,LH00995:48:23YTGFLT4:3:1215:12269:26685,LH00995:48:23YTGFLT4:3:1238:7229:20982,LH00995:48:23YTGFLT4:3:1252:51101:3508,LH00995:48:23YTGFLT4:3:1271:12051:25634,LH00995:48:23YTGFLT4:3:1293:37583:23700,LH00995:48:23YTGFLT4:3:1310:1955:15937,LH00995:48:23YTGFLT4:3:1369:44904:7179,LH00995:48:23YTGFLT4:3:1397:34630:6899,LH00995:48:23YTGFLT4:3:1407:42874:11509,LH00995:48:23YTGFLT4:3:1429:35358:9842,LH00995:48:23YTGFLT4:3:1429:35366:9828,LH00995:48:23YTGFLT4:3:2129:50001:16932,LH00995:48:23YTGFLT4:3:2192:1146:26390,LH00995:48:23YTGFLT4:3:2196:24226:19174,LH00995:48:23YTGFLT4:3:2338:46255:9323,LH00995:48:23YTGFLT4:3:2345:44637:6969,LH00995:48:23YTGFLT4:3:2357:21435:12098,LH00995:48:23YTGFLT4:3:2429:30213:16876,LH00995:48:23YTGFLT4:3:2439:28045:10066,LH00995:48:23YTGFLT4:3:2453:46320:6745,LH00995:48:23YTGFLT4:4:1119:50826:24387,LH00995:48:23YTGFLT4:4:1128:31046:28660,LH00995:48:23YTGFLT4:4:1183:50559:3326,LH00995:48:23YTGFLT4:4:1234:24971:18417,LH00995:48:23YTGFLT4:4:1314:14737:26306,LH00995:48:23YTGFLT4:4:1393:48513:29487,LH00995:48:23YTGFLT4:4:1467:48658:25844,LH00995:48:23YTGFLT4:4:2110:11800:27021,LH00995:48:23YTGFLT4:4:2286:17617:21626,LH00995:48:23YTGFLT4:4:2287:6687:10654,LH00995:48:23YTGFLT4:4:2308:31079:28128,LH00995:48:23YTGFLT4:4:2417:51522:25592,LH00995:48:23YTGFLT4:4:2481:1146:2457,LH00995:48:23YTGFLT4:5:1129:29760:27637,LH00995:48:23YTGFLT4:5:1183:38424:14676,LH00995:48:23YTGFLT4:5:1262:15327:6871,LH00995:48:23YTGFLT4:5:1275:43828:6941,LH00995:48:23YTGFLT4:5:1369:5085:10795,LH00995:48:23YTGFLT4:5:1394:28506:23896,LH00995:48:23YTGFLT4:5:1447:46061:5764,LH00995:48:23YTGFLT4:5:2120:26119:9533,LH00995:48:23YTGFLT4:5:2166:23563:22705,LH00995:48:23YTGFLT4:5:2174:46652:21864,LH00995:48:23YTGFLT4:5:2209:7100:15096,LH00995:48:23YTGFLT4:5:2231:37575:26096,LH00995:48:23YTGFLT4:5:2264:14251:19804,LH00995:48:23YTGFLT4:5:2375:21452:13275,LH00995:48:23YTGFLT4:5:2393:45891:17577,LH00995:48:23YTGFLT4:5:2397:49095:14830,LH00995:48:23YTGFLT4:5:2458:12973:21962,LH00995:48:23YTGFLT4:6:1112:42704:16764,LH00995:48:23YTGFLT4:6:1186:24040:1897,LH00995:48:23YTGFLT4:6:1274:34476:6465,LH00995:48:23YTGFLT4:6:1316:41321:16554,LH00995:48:23YTGFLT4:6:1439:2133:23952,LH00995:48:23YTGFLT4:6:1446:40843:4489,LH00995:48:23YTGFLT4:6:1467:48488:4391,LH00995:48:23YTGFLT4:6:2133:19332:23700,LH00995:48:23YTGFLT4:6:2162:47793:5064,LH00995:48:23YTGFLT4:6:2233:30464:29697,LH00995:48:23YTGFLT4:6:2313:30245:16848,LH00995:48:23YTGFLT4:6:2364:39703:12574,LH00995:48:23YTGFLT4:6:2369:37543:4237,LH00995:48:23YTGFLT4:6:2371:3686:17002,LH00995:48:23YTGFLT4:6:2383:25472:26096,LH00995:48:23YTGFLT4:6:2393:22301:16568,LH00995:48:23YTGFLT4:6:2474:2052:13275,LH00995:48:23YTGFLT4:7:1148:21791:11453,LH00995:48:23YTGFLT4:7:1158:36353:22411,LH00995:48:23YTGFLT4:7:1285:28401:13093,LH00995:48:23YTGFLT4:7:1296:20974:6815,LH00995:48:23YTGFLT4:7:1307:46312:29291,LH00995:48:23YTGFLT4:7:1355:19874:3844,LH00995:48:23YTGFLT4:7:1414:23539:11201,LH00995:48:23YTGFLT4:7:1437:22010:18726,LH00995:48:23YTGFLT4:7:1468:42348:28338,LH00995:48:23YTGFLT4:7:2189:42324:23756,LH00995:48:23YTGFLT4:7:2193:51433:23420,LH00995:48:23YTGFLT4:7:2198:18135:25409,LH00995:48:23YTGFLT4:7:2294:40277:27497,LH00995:48:23YTGFLT4:7:2316:12099:27231,LH00995:48:23YTGFLT4:7:2317:31111:16974,LH00995:48:23YTGFLT4:7:2449:45908:4153,LH00995:48:23YTGFLT4:7:2474:33020:5708,LH00995:48:23YTGFLT4:8:1159:23474:8174,LH00995:48:23YTGFLT4:8:1263:3241:15867,LH00995:48:23YTGFLT4:8:1312:3662:8469,LH00995:48:23YTGFLT4:8:1324:42777:13611,LH00995:48:23YTGFLT4:8:1350:43100:5932,LH00995:48:23YTGFLT4:8:1367:47396:4545,LH00995:48:23YTGFLT4:8:1431:24510:4475,LH00995:48:23YTGFLT4:8:2192:3581:9505,LH00995:48:23YTGFLT4:8:2249:40180:22145,LH00995:48:23YTGFLT4:8:2252:28911:21094,LH00995:48:23YTGFLT4:8:2273:29970:11075,LH00995:48:23YTGFLT4:8:2375:18644:17829,LH00995:48:23YTGFLT4:8:2383:42186:26769,LH00995:48:23YTGFLT4:8:2414:12051:28380,LH00995:48:23YTGFLT4:8:2446:33603:28828,LH00995:48:23YTGFLT4:8:2459:7116:26446,LH00995:48:23YTGFLT4:8:2482:45446:18403,LH00995:48:23YTGFLT4:1:1111:37632:15657,LH00995:48:23YTGFLT4:1:1118:45471:2163,LH00995:48:23YTGFLT4:1:1118:45479:2149,LH00995:48:23YTGFLT4:1:1137:40455:24218,LH00995:48:23YTGFLT4:1:1178:19761:27946,LH00995:48:23YTGFLT4:1:1191:10748:22173,LH00995:48:23YTGFLT4:1:1191:10765:22173,LH00995:48:23YTGFLT4:1:1214:24089:15405,LH00995:48:23YTGFLT4:1:1219:43149:20057,LH00995:48:23YTGFLT4:1:1291:19623:13639,LH00995:48:23YTGFLT4:1:1317:16606:4797,LH00995:48:23YTGFLT4:1:1331:50907:19594,LH00995:48:23YTGFLT4:1:1445:13006:25774,LH00995:48:23YTGFLT4:1:2143:32155:29207,LH00995:48:23YTGFLT4:1:2153:42316:15138,LH00995:48:23YTGFLT4:1:2354:19000:20631,LH00995:48:23YTGFLT4:1:2374:15983:23111,LH00995:48:23YTGFLT4:1:2444:30108:11201,LH00995:48:23YTGFLT4:1:2477:18054:23476,LH00995:48:23YTGFLT4:2:1146:12763:5876,LH00995:48:23YTGFLT4:2:1177:15756:10052,LH00995:48:23YTGFLT4:2:1218:44387:13009,LH00995:48:23YTGFLT4:2:1249:11371:6213,LH00995:48:23YTGFLT4:2:1249:11379:6227,LH00995:48:23YTGFLT4:2:1274:37818:15615,LH00995:48:23YTGFLT4:2:1283:1429:25227,LH00995:48:23YTGFLT4:2:1334:24623:16217,LH00995:48:23YTGFLT4:2:1346:34662:17296,LH00995:48:23YTGFLT4:2:1346:9025:20645,LH00995:48:23YTGFLT4:2:1357:14526:26614,LH00995:48:23YTGFLT4:2:1382:27204:15026,LH00995:48:23YTGFLT4:2:1393:33214:2345,LH00995:48:23YTGFLT4:2:1421:49370:29459,LH00995:48:23YTGFLT4:2:1426:48966:19230,LH00995:48:23YTGFLT4:2:2384:10085:12056,LH00995:48:23YTGFLT4:2:2384:43028:16343,LH00995:48:23YTGFLT4:2:2485:33611:6030,LH00995:48:23YTGFLT4:3:1130:41256:4447,LH00995:48:23YTGFLT4:3:1170:36677:8819,LH00995:48:23YTGFLT4:3:1229:11582:23840,LH00995:48:23YTGFLT4:3:1263:16007:8048,LH00995:48:23YTGFLT4:3:1303:42712:7838,LH00995:48:23YTGFLT4:3:1441:6113:4951,LH00995:48:23YTGFLT4:3:2146:18296:29697,LH00995:48:23YTGFLT4:3:2179:51053:16932,LH00995:48:23YTGFLT4:4:1101:39347:17983,LH00995:48:23YTGFLT4:4:1232:16144:15685,LH00995:48:23YTGFLT4:4:1262:25618:27329,LH00995:48:23YTGFLT4:4:1313:24631:6227,LH00995:48:23YTGFLT4:4:1444:26370:19552,LH00995:48:23YTGFLT4:4:1454:33546:15615,LH00995:48:23YTGFLT4:4:1464:42801:7796,LH00995:48:23YTGFLT4:4:1476:18733:16610,LH00995:48:23YTGFLT4:4:2131:41240:11145,LH00995:48:23YTGFLT4:4:2189:7788:6002,LH00995:48:23YTGFLT4:4:2256:41361:18669,LH00995:48:23YTGFLT4:4:2256:46757:18515,LH00995:48:23YTGFLT4:4:2273:33732:19945,LH00995:48:23YTGFLT4:4:2284:40762:16624,LH00995:48:23YTGFLT4:4:2397:29493:3270,LH00995:48:23YTGFLT4:4:2458:48723:1659,LH00995:48:23YTGFLT4:5:1210:16808:24541,LH00995:48:23YTGFLT4:5:1216:1210:4979,LH00995:48:23YTGFLT4:5:1219:39379:3774,LH00995:48:23YTGFLT4:5:1330:44387:20323,LH00995:48:23YTGFLT4:5:1396:33587:26923,LH00995:48:23YTGFLT4:5:1404:44322:13709,LH00995:48:23YTGFLT4:5:1474:8613:12308,LH00995:48:23YTGFLT4:5:1486:1671:13877,LH00995:48:23YTGFLT4:5:1488:11833:18109,LH00995:48:23YTGFLT4:5:2122:17350:27133,LH00995:48:23YTGFLT4:5:2135:29016:25620,LH00995:48:23YTGFLT4:5:2201:47954:27511,LH00995:48:23YTGFLT4:5:2230:13960:1168,LH00995:48:23YTGFLT4:5:2329:13095:10038,LH00995:48:23YTGFLT4:5:2371:26742:3438,LH00995:48:23YTGFLT4:5:2411:24599:18754,LH00995:48:23YTGFLT4:6:1129:27365:6871,LH00995:48:23YTGFLT4:6:1129:27373:6857,LH00995:48:23YTGFLT4:6:1143:48286:4293,LH00995:48:23YTGFLT4:6:1173:26742:27147,LH00995:48:23YTGFLT4:6:1223:2772:7684,LH00995:48:23YTGFLT4:6:1233:48415:25872,LH00995:48:23YTGFLT4:6:1277:21799:17100,LH00995:48:23YTGFLT4:6:1277:21807:17086,LH00995:48:23YTGFLT4:6:1286:42356:17198,LH00995:48:23YTGFLT4:6:1446:3322:14886,LH00995:48:23YTGFLT4:6:2114:39945:26671,LH00995:48:23YTGFLT4:6:2115:9948:22439,LH00995:48:23YTGFLT4:6:2132:25221:17366,LH00995:48:23YTGFLT4:6:2148:8119:1504,LH00995:48:23YTGFLT4:6:2154:9883:12126,LH00995:48:23YTGFLT4:6:2248:17075:24358,LH00995:48:23YTGFLT4:6:2319:14575:7922,LH00995:48:23YTGFLT4:6:2321:44896:13583,LH00995:48:23YTGFLT4:6:2330:51109:29697,LH00995:48:23YTGFLT4:6:2364:43440:21094,LH00995:48:23YTGFLT4:6:2367:4479:5008,LH00995:48:23YTGFLT4:6:2421:18272:8076,LH00995:48:23YTGFLT4:6:2433:47299:27245,LH00995:48:23YTGFLT4:6:2488:22317:12504,LH00995:48:23YTGFLT4:7:1262:46377:12336,LH00995:48:23YTGFLT4:7:1344:40067:26628,LH00995:48:23YTGFLT4:7:1404:35423:16932,LH00995:48:23YTGFLT4:7:1407:4552:16764,LH00995:48:23YTGFLT4:7:1450:39961:8314,LH00995:48:23YTGFLT4:7:1457:24631:2864,LH00995:48:23YTGFLT4:7:2116:21031:14368,LH00995:48:23YTGFLT4:7:2215:21185:5414,LH00995:48:23YTGFLT4:7:2221:47097:18515,LH00995:48:23YTGFLT4:7:2270:19235:14648,LH00995:48:23YTGFLT4:7:2345:33651:16049,LH00995:48:23YTGFLT4:7:2358:11113:1981,LH00995:48:23YTGFLT4:7:2364:5393:28030,LH00995:48:23YTGFLT4:7:2364:5409:28030,LH00995:48:23YTGFLT4:7:2459:18960:13275,LH00995:48:23YTGFLT4:7:2481:34978:22018,LH00995:48:23YTGFLT4:8:1121:4042:18207,LH00995:48:23YTGFLT4:8:1190:15869:14003,LH00995:48:23YTGFLT4:8:1220:35067:23490,LH00995:48:23YTGFLT4:8:1269:21047:20253,LH00995:48:23YTGFLT4:8:1287:50155:14340,LH00995:48:23YTGFLT4:8:1308:45414:22243,LH00995:48:23YTGFLT4:8:1308:45422:22257,LH00995:48:23YTGFLT4:8:1429:46886:25325,LH00995:48:23YTGFLT4:8:1465:48966:1771,LH00995:48:23YTGFLT4:8:1484:33303:16147,LH00995:48:23YTGFLT4:8:2212:39630:15699,LH00995:48:23YTGFLT4:8:2246:8548:4937,LH00995:48:23YTGFLT4:8:2316:21969:17983,LH00995:48:23YTGFLT4:8:2318:24218:20393,LH00995:48:23YTGFLT4:8:2322:31613:25998,LH00995:48:23YTGFLT4:8:2336:40463:13723,LH00995:48:23YTGFLT4:8:2364:29533:8469,LH00995:48:23YTGFLT4:8:2432:26864:11635,LH00995:48:23YTGFLT4:8:2436:47437:18543,LH00995:48:23YTGFLT4:8:2444:37931:28590,LH00995:48:23YTGFLT4:8:2450:31475:28394,LH00995:48:23YTGFLT4:8:2450:31491:28394

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

596

11451

high

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(175),low_entropy(2),mismappers(2),mismatches(1)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

362

730

high

in-frame

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

ENSG00000249158.7

ENSG00000248383.5

ENST00000616325.1

ENST00000253807.3

downstream

upstream

duplicates(116),low_entropy(3),mismappers(1),mismatches(3)

CTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGT

WSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

LH00995:48:23YTGFLT4:1:1132:39994:23980,LH00995:48:23YTGFLT4:1:1186:4738:5344,LH00995:48:23YTGFLT4:1:1240:4414:9183,LH00995:48:23YTGFLT4:1:1240:4430:9183,LH00995:48:23YTGFLT4:1:1270:16031:23027,LH00995:48:23YTGFLT4:1:2131:12836:29263,LH00995:48:23YTGFLT4:1:2186:6938:9884,LH00995:48:23YTGFLT4:1:2244:42558:26012,LH00995:48:23YTGFLT4:1:2307:18207:14970,LH00995:48:23YTGFLT4:1:2321:31524:13093,LH00995:48:23YTGFLT4:1:2374:24599:14073,LH00995:48:23YTGFLT4:1:2485:20125:23083,LH00995:48:23YTGFLT4:2:1105:32244:20197,LH00995:48:23YTGFLT4:2:1218:46911:13317,LH00995:48:23YTGFLT4:2:1225:42437:24232,LH00995:48:23YTGFLT4:2:1283:21589:3676,LH00995:48:23YTGFLT4:2:1286:24736:25493,LH00995:48:23YTGFLT4:2:1308:17002:6885,LH00995:48:23YTGFLT4:2:1308:17010:6871,LH00995:48:23YTGFLT4:2:1375:42016:18067,LH00995:48:23YTGFLT4:2:1489:5579:10220,LH00995:48:23YTGFLT4:2:2150:38376:23924,LH00995:48:23YTGFLT4:2:2160:21840:10865,LH00995:48:23YTGFLT4:2:2184:28441:1336,LH00995:48:23YTGFLT4:2:2202:19777:21192,LH00995:48:23YTGFLT4:2:2310:41701:29319,LH00995:48:23YTGFLT4:2:2443:38165:4587,LH00995:48:23YTGFLT4:3:1111:27131:19468,LH00995:48:23YTGFLT4:3:1122:6194:19328,LH00995:48:23YTGFLT4:3:1128:6687:26628,LH00995:48:23YTGFLT4:3:1191:33587:10753,LH00995:48:23YTGFLT4:3:1221:6946:11187,LH00995:48:23YTGFLT4:3:2133:44904:4629,LH00995:48:23YTGFLT4:3:2135:32138:15587,LH00995:48:23YTGFLT4:3:2291:12010:8356,LH00995:48:23YTGFLT4:3:2341:35488:2135,LH00995:48:23YTGFLT4:3:2364:40107:9351,LH00995:48:23YTGFLT4:3:2498:31871:3466,LH00995:48:23YTGFLT4:3:2498:31880:3480,LH00995:48:23YTGFLT4:4:1113:35860:15054,LH00995:48:23YTGFLT4:4:1190:18086:16946,LH00995:48:23YTGFLT4:4:1267:2917:7936,LH00995:48:23YTGFLT4:4:1367:3209:19426,LH00995:48:23YTGFLT4:4:2105:31629:22775,LH00995:48:23YTGFLT4:4:2301:22382:6983,LH00995:48:23YTGFLT4:4:2305:3670:3915,LH00995:48:23YTGFLT4:4:2343:50503:25283,LH00995:48:23YTGFLT4:4:2469:40948:26979,LH00995:48:23YTGFLT4:4:2477:2594:25227,LH00995:48:23YTGFLT4:4:2486:27220:17072,LH00995:48:23YTGFLT4:4:2486:27228:17086,LH00995:48:23YTGFLT4:4:2493:20756:9015,LH00995:48:23YTGFLT4:4:2493:20764:9001,LH00995:48:23YTGFLT4:5:1106:1186:24807,LH00995:48:23YTGFLT4:5:1159:17900:3396,LH00995:48:23YTGFLT4:5:1169:14446:8230,LH00995:48:23YTGFLT4:5:1171:24000:22565,LH00995:48:23YTGFLT4:5:1209:47704:28366,LH00995:48:23YTGFLT4:5:1261:32624:21472,LH00995:48:23YTGFLT4:5:1330:7197:14788,LH00995:48:23YTGFLT4:5:1443:26184:18473,LH00995:48:23YTGFLT4:5:2208:19567:18333,LH00995:48:23YTGFLT4:5:2482:24954:22509,LH00995:48:23YTGFLT4:6:1125:27972:22887,LH00995:48:23YTGFLT4:6:1125:27988:22887,LH00995:48:23YTGFLT4:6:1240:44201:27876,LH00995:48:23YTGFLT4:6:1240:44209:27890,LH00995:48:23YTGFLT4:6:1240:44225:27890,LH00995:48:23YTGFLT4:6:1262:43659:28618,LH00995:48:23YTGFLT4:6:1394:31807:9155,LH00995:48:23YTGFLT4:6:1394:31823:9155,LH00995:48:23YTGFLT4:6:2313:28975:26278,LH00995:48:23YTGFLT4:6:2350:39589:28044,LH00995:48:23YTGFLT4:6:2350:39597:28058,LH00995:48:23YTGFLT4:6:2402:20715:11747,LH00995:48:23YTGFLT4:6:2440:34751:12742,LH00995:48:23YTGFLT4:6:2484:8030:26685,LH00995:48:23YTGFLT4:7:1263:51765:27105,LH00995:48:23YTGFLT4:7:1271:47962:22649,LH00995:48:23YTGFLT4:7:1428:27422:24765,LH00995:48:23YTGFLT4:7:1451:43367:22929,LH00995:48:23YTGFLT4:7:1451:43375:22915,LH00995:48:23YTGFLT4:8:1131:18224:22369,LH00995:48:23YTGFLT4:8:1146:17682:7670,LH00995:48:23YTGFLT4:8:1149:17431:2247,LH00995:48:23YTGFLT4:8:1216:19987:16007,LH00995:48:23YTGFLT4:8:1263:29825:22705,LH00995:48:23YTGFLT4:8:1339:24453:1995,LH00995:48:23YTGFLT4:8:1370:12439:9183,LH00995:48:23YTGFLT4:8:2150:18046:17997,LH00995:48:23YTGFLT4:8:2290:4414:24961,LH00995:48:23YTGFLT4:8:2402:1299:18782,LH00995:48:23YTGFLT4:8:2428:42170:10234,LH00995:48:23YTGFLT4:8:2473:1348:25507,LH00995:48:23YTGFLT4:1:1157:20327:26937,LH00995:48:23YTGFLT4:1:1157:20343:26937,LH00995:48:23YTGFLT4:1:1309:34687:24176,LH00995:48:23YTGFLT4:1:1355:34420:20968,LH00995:48:23YTGFLT4:1:1459:44006:17506,LH00995:48:23YTGFLT4:1:2130:24437:24779,LH00995:48:23YTGFLT4:1:2170:49168:13863,LH00995:48:23YTGFLT4:1:2252:13628:7600,LH00995:48:23YTGFLT4:1:2265:48828:28604,LH00995:48:23YTGFLT4:1:2331:13337:14746,LH00995:48:23YTGFLT4:1:2395:2116:28884,LH00995:48:23YTGFLT4:1:2419:25456:7179,LH00995:48:23YTGFLT4:1:2457:49330:9351,LH00995:48:23YTGFLT4:1:2463:49799:22971,LH00995:48:23YTGFLT4:1:2476:23773:8609,LH00995:48:23YTGFLT4:2:1229:39622:13331,LH00995:48:23YTGFLT4:2:1256:29210:17745,LH00995:48:23YTGFLT4:2:1302:3176:8216,LH00995:48:23YTGFLT4:2:1382:41296:17268,LH00995:48:23YTGFLT4:2:1420:36313:2836,LH00995:48:23YTGFLT4:2:2318:8330:19216,LH00995:48:23YTGFLT4:3:1172:45535:18557,LH00995:48:23YTGFLT4:3:1196:24712:11944,LH00995:48:23YTGFLT4:3:1220:7933:12308,LH00995:48:23YTGFLT4:3:1220:7941:12322,LH00995:48:23YTGFLT4:3:1220:7949:12308,LH00995:48:23YTGFLT4:3:1227:7561:20435,LH00995:48:23YTGFLT4:3:1270:49985:20407,LH00995:48:23YTGFLT4:3:1345:35180:24415,LH00995:48:23YTGFLT4:3:1426:28409:25914,LH00995:48:23YTGFLT4:3:1467:2262:27792,LH00995:48:23YTGFLT4:3:2155:27729:10781,LH00995:48:23YTGFLT4:3:2220:24882:17394,LH00995:48:23YTGFLT4:3:2327:6647:7109,LH00995:48:23YTGFLT4:3:2394:38327:24120,LH00995:48:23YTGFLT4:3:2409:49087:28240,LH00995:48:23YTGFLT4:3:2480:11557:20519,LH00995:48:23YTGFLT4:3:2493:11315:27217,LH00995:48:23YTGFLT4:4:1173:39468:11299,LH00995:48:23YTGFLT4:4:1176:11436:16021,LH00995:48:23YTGFLT4:4:1232:43521:22747,LH00995:48:23YTGFLT4:4:1273:41571:1631,LH00995:48:23YTGFLT4:4:1403:16080:6605,LH00995:48:23YTGFLT4:4:1422:32413:9674,LH00995:48:23YTGFLT4:4:1428:3993:2149,LH00995:48:23YTGFLT4:4:1450:46361:28786,LH00995:48:23YTGFLT4:4:1468:11056:17324,LH00995:48:23YTGFLT4:4:2129:19178:27357,LH00995:48:23YTGFLT4:4:2172:50470:26348,LH00995:48:23YTGFLT4:4:2275:7860:15657,LH00995:48:23YTGFLT4:4:2350:24032:6563,LH00995:48:23YTGFLT4:4:2421:39233:26194,LH00995:48:23YTGFLT4:5:1170:46336:24793,LH00995:48:23YTGFLT4:5:1206:27697:10360,LH00995:48:23YTGFLT4:5:1217:8888:29291,LH00995:48:23YTGFLT4:5:1350:36734:24134,LH00995:48:23YTGFLT4:5:1421:19008:9043,LH00995:48:23YTGFLT4:5:1464:34436:21360,LH00995:48:23YTGFLT4:5:1464:45163:1518,LH00995:48:23YTGFLT4:5:2103:31394:22285,LH00995:48:23YTGFLT4:5:2219:28377:10080,LH00995:48:23YTGFLT4:5:2297:51967:3943,LH00995:48:23YTGFLT4:5:2420:25205:23308,LH00995:48:23YTGFLT4:5:2420:25221:23308,LH00995:48:23YTGFLT4:5:2453:17779:11481,LH00995:48:23YTGFLT4:6:1152:25505:2667,LH00995:48:23YTGFLT4:6:1206:33886:10626,LH00995:48:23YTGFLT4:6:1210:35488:10206,LH00995:48:23YTGFLT4:6:1220:8516:23714,LH00995:48:23YTGFLT4:6:1307:44985:21948,LH00995:48:23YTGFLT4:6:1334:26403:2037,LH00995:48:23YTGFLT4:6:1343:37721:24246,LH00995:48:23YTGFLT4:6:1363:3645:10514,LH00995:48:23YTGFLT4:6:2166:19542:10668,LH00995:48:23YTGFLT4:6:2174:21330:27105,LH00995:48:23YTGFLT4:6:2346:38157:14942,LH00995:48:23YTGFLT4:6:2451:26079:21430,LH00995:48:23YTGFLT4:6:2478:39662:10374,LH00995:48:23YTGFLT4:7:1126:26831:22509,LH00995:48:23YTGFLT4:7:1233:50074:26839,LH00995:48:23YTGFLT4:7:1308:25545:1897,LH00995:48:23YTGFLT4:7:1361:38894:9800,LH00995:48:23YTGFLT4:7:1469:6186:4937,LH00995:48:23YTGFLT4:7:2159:29016:6955,LH00995:48:23YTGFLT4:7:2190:17140:29571,LH00995:48:23YTGFLT4:7:2241:5838:20982,LH00995:48:23YTGFLT4:7:2311:25594:22887,LH00995:48:23YTGFLT4:7:2368:21015:24765,LH00995:48:23YTGFLT4:8:1138:19049:3901,LH00995:48:23YTGFLT4:8:1238:11185:23238,LH00995:48:23YTGFLT4:8:1242:43214:9183,LH00995:48:23YTGFLT4:8:1287:18774:24330,LH00995:48:23YTGFLT4:8:1336:14704:29389,LH00995:48:23YTGFLT4:8:1492:33878:23392,LH00995:48:23YTGFLT4:8:2184:18264:20225,LH00995:48:23YTGFLT4:8:2331:16500:23756,LH00995:48:23YTGFLT4:8:2482:50438:17324

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

362

730

high

in-frame

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

ENSG00000249158.7

ENSG00000243232.6

ENST00000616325.1

ENST00000289269.7

downstream

upstream

duplicates(116),low_entropy(3),mismappers(1),mismatches(3)

WSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

362

730

high

in-frame

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

ENSG00000249158.7

ENSG00000239389.8

ENST00000616325.1

ENST00000289272.3

downstream

upstream

duplicates(116),low_entropy(3),mismappers(1),mismatches(3)

WSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

221

high

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(12)

CTTATTCCTT___GTATTGGAGTACTGGAGCAGAACAgTTTTTCCCTGAATAGAAGAATGCAGAAAG___CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATA

LH00995:48:23YTGFLT4:1:2418:17892:8202,LH00995:48:23YTGFLT4:2:2177:21484:7390,LH00995:48:23YTGFLT4:4:1189:46450:27539,LH00995:48:23YTGFLT4:4:1189:46466:27539,LH00995:48:23YTGFLT4:5:1336:41612:1589,LH00995:48:23YTGFLT4:7:1431:7699:21178,LH00995:48:23YTGFLT4:1:2246:44015:2191,LH00995:48:23YTGFLT4:2:1174:13645:7684,LH00995:48:23YTGFLT4:2:1174:13661:7684,LH00995:48:23YTGFLT4:2:1209:51296:13877,LH00995:48:23YTGFLT4:2:1488:28999:6086,LH00995:48:23YTGFLT4:3:1203:36313:11215,LH00995:48:23YTGFLT4:3:1369:4034:9449,LH00995:48:23YTGFLT4:3:2104:27940:3102,LH00995:48:23YTGFLT4:3:2225:44977:6689,LH00995:48:23YTGFLT4:3:2388:40827:8917,LH00995:48:23YTGFLT4:4:1135:42712:8959,LH00995:48:23YTGFLT4:5:1168:16735:4713,LH00995:48:23YTGFLT4:5:2255:15020:18866,LH00995:48:23YTGFLT4:6:2364:21913:20603,LH00995:48:23YTGFLT4:6:2366:22560:28198,LH00995:48:23YTGFLT4:7:2217:12051:5344,LH00995:48:23YTGFLT4:8:1308:10465:19889,LH00995:48:23YTGFLT4:8:2160:34112:17661,LH00995:48:23YTGFLT4:8:2178:17803:2667,LH00995:48:23YTGFLT4:8:2381:5183:2079,LH00995:48:23YTGFLT4:8:2381:5191:2093

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

188

high

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(5),mismappers(3)

GTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCC

LH00995:48:23YTGFLT4:1:1447:2925:13079,LH00995:48:23YTGFLT4:1:2181:37502:27932,LH00995:48:23YTGFLT4:2:1455:40220:22327,LH00995:48:23YTGFLT4:2:1491:43885:13513,LH00995:48:23YTGFLT4:2:2297:7537:29753,LH00995:48:23YTGFLT4:2:2344:13127:6507,LH00995:48:23YTGFLT4:3:1305:29711:18137,LH00995:48:23YTGFLT4:3:2229:40576:21290,LH00995:48:23YTGFLT4:4:1208:29064:5386,LH00995:48:23YTGFLT4:4:2213:3055:21822,LH00995:48:23YTGFLT4:4:2269:33255:20323,LH00995:48:23YTGFLT4:5:2221:5530:28604,LH00995:48:23YTGFLT4:5:2255:6857:8174,LH00995:48:23YTGFLT4:5:2255:6873:8174,LH00995:48:23YTGFLT4:5:2394:51635:26516,LH00995:48:23YTGFLT4:6:2285:46207:9183,LH00995:48:23YTGFLT4:6:2285:46223:9183,LH00995:48:23YTGFLT4:7:1491:23118:3774,LH00995:48:23YTGFLT4:7:2450:33287:8132,LH00995:48:23YTGFLT4:8:1286:49402:13905,LH00995:48:23YTGFLT4:8:2345:4875:24751,LH00995:48:23YTGFLT4:7:1311:41393:24555

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

188

low

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

TGCCAGCAAGGGTGCATCCAGCTATATGTCAGAATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGC

LH00995:48:23YTGFLT4:6:2433:3152:27539,LH00995:48:23YTGFLT4:8:1321:27228:6745

NUDT19

CCDC171

+/+

chr19:32692674

chr9:15695235

CDS/splice-site

translocation

734

311

high

in-frame

ENSG00000213965.3

ENSG00000164989.17

ENST00000397061.3

ENST00000380701.8

downstream

upstream

duplicates(2)

GCCTTCTTCCTGTGCTGCCTGCGCGAGCCGCCGCCCGTCTACCCCGACTTGGCGGAGGTGGTGGGCTACCAG|GCTAAGAAGCACCAGGCCTTCCTAGTAGAGACATGTGAAAATAACGTGAAAGAATTGGAATCGATCTTGGACAGCTTTACTGTGTCGGGCCAGTGGACATCAG___GCATCCACAAGGACAAAGATAAACCTCCC

AFFLCCLREPPPVYPDLAEVVGYQ|AKKHQAFLVETCENNVKELESILDSFTVSGQWTSGIHKDKDKP

LH00995:48:23YTGFLT4:1:1468:23005:7978,LH00995:48:23YTGFLT4:3:2411:32753:3957,LH00995:48:23YTGFLT4:3:2487:48100:12042,LH00995:48:23YTGFLT4:5:2249:49152:3802,LH00995:48:23YTGFLT4:6:2342:39848:14564,LH00995:48:23YTGFLT4:8:1370:39824:6927,LH00995:48:23YTGFLT4:1:1133:27414:13737,LH00995:48:23YTGFLT4:2:1403:45811:29039,LH00995:48:23YTGFLT4:8:2452:39096:17577

NUDT19

CCDC171

+/+

chr19:32692674

chr9:15678758

CDS/splice-site

translocation

734

173

medium

out-of-frame

ENSG00000213965.3

ENSG00000164989.17

ENST00000397061.3

ENST00000380701.8

downstream

upstream

CGCTTTGACACGGCCTTCTTCCTGTGCTGCCTGCGCGAGCCGCCGCCCGTCTACCCCGACTTGGCGGAGGTGGTGGGCTACCAG|ATTAGAAAAAGAGTATTTCTCCAAAAATAAGAAACTAAATGAAGACATCGAGGAACAGAAGAAAGTAATTATAGACCTTTCAAAGAGACTCCAGTATAATGAAAAAAGTTGCAGTGAATTACAGGAAGAACTAGTAATG___GCTAAGAAGCACCAGGCCT

RFDTAFFLCCLREPPPVYPDLAEVVGYQ|irkrvflqk*

LH00995:48:23YTGFLT4:6:2193:4422:9870,LH00995:48:23YTGFLT4:1:2175:32980:16736

NUDT19

CCDC171

+/+

chr19:32692674

chr9:15721769

CDS/splice-site

translocation

734

428

low

out-of-frame

ENSG00000213965.3

ENSG00000164989.17

ENST00000397061.3

ENST00000380701.8

downstream

upstream

duplicates(2)

CTTGGCGGAGGTGGTGGGCTACCAG|GCATCCACAAGGACAAAGATAAACCTCCCAGCTTCTCTGTTGTCCTTGAGAGATTGAGGCGTACCTTGACA

LAEVVGYQ|astrtkinlpasllslrd*

LH00995:48:23YTGFLT4:1:2365:28401:1490,LH00995:48:23YTGFLT4:5:1177:51198:3676,LH00995:48:23YTGFLT4:8:1262:5320:14312

TPTE2

MRPS31P2

-/-

chr13:19475573

chr13:19570288

CDS/splice-site

exon

duplication

high

out-of-frame

ENSG00000132958.17

ENSG00000232894.1

ENST00000382978.5

ENST00000451581.1

upstream

downstream

duplicates(3)

CGAGGAGGCACCTGCGAAAGAAAG___CCCACACACAAGTGAATTTAAAGGAGCAGCCCTGGTGTCACCTATCAGTAAAAG___CAGCAAGATTAAGAAAATTGTGCATTCAATTGTATCATCCTTTGCATTTGG|AATTGAGTCCCTAAGTCCTGAGTTGGTGGCAGCTGCATCTGCTGTGGCAGATTCTCTCCCTTTTGACAAGCAAAT...TTTGACAAGGGCTATGACAATTATCCTGGCCAGGAGAAGACTGCTGATCTTACAAAAAG___ACTTAGGAAAAATATATTCACGGGGAAAAGACTTAATATTTTTGACCTGACGTCAGTTACTAAAGACACACCTGAAACAG___AGTTGACGCTGG

EEAPAKESPHTSEFKGAALVSPISKsSKIKKIVHSIVSSFAFg|ieslspelvaaasavadslpfdkq

LH00995:48:23YTGFLT4:1:2430:45131:6507,LH00995:48:23YTGFLT4:1:2430:45147:6507,LH00995:48:23YTGFLT4:2:2278:40552:6955,LH00995:48:23YTGFLT4:3:2310:4940:28590,LH00995:48:23YTGFLT4:3:2395:2416:24639,LH00995:48:23YTGFLT4:6:2223:6558:8132,LH00995:48:23YTGFLT4:7:1438:46166:27049,LH00995:48:23YTGFLT4:8:1160:46757:6353,LH00995:48:23YTGFLT4:7:2479:13151:27904

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

106

186

2198

2283

medium

in-frame

SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%)

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(237),mismappers(71)

GTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACC

SRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATP

LH00995:48:23YTGFLT4:1:1105:2416:20379,LH00995:48:23YTGFLT4:1:1105:2424:20393,LH00995:48:23YTGFLT4:1:1106:32883:10010,LH00995:48:23YTGFLT4:1:1110:11630:16357,LH00995:48:23YTGFLT4:1:1113:3039:22243,LH00995:48:23YTGFLT4:1:1127:50964:27567,LH00995:48:23YTGFLT4:1:1159:31499:18431,LH00995:48:23YTGFLT4:1:1171:3006:7726,LH00995:48:23YTGFLT4:1:1172:8079:22032,LH00995:48:23YTGFLT4:1:1188:41418:16021,LH00995:48:23YTGFLT4:1:1188:41418:16049,LH00995:48:23YTGFLT4:1:1188:41426:16035,LH00995:48:23YTGFLT4:1:1188:41442:16035,LH00995:48:23YTGFLT4:1:1202:7059:4965,LH00995:48:23YTGFLT4:1:1204:11833:20575,LH00995:48:23YTGFLT4:1:1204:11841:20561,LH00995:48:23YTGFLT4:1:1210:44759:24358,LH00995:48:23YTGFLT4:1:1210:44775:24358,LH00995:48:23YTGFLT4:1:1214:50171:17058,LH00995:48:23YTGFLT4:1:1228:20837:16357,LH00995:48:23YTGFLT4:1:1303:22552:11089,LH00995:48:23YTGFLT4:1:1352:27762:14059,LH00995:48:23YTGFLT4:1:1360:30035:6563,LH00995:48:23YTGFLT4:1:1361:32195:19076,LH00995:48:23YTGFLT4:1:1376:20028:22775,LH00995:48:23YTGFLT4:1:1376:20044:22775,LH00995:48:23YTGFLT4:1:1485:16929:19174,LH00995:48:23YTGFLT4:1:1490:36183:17913,LH00995:48:23YTGFLT4:1:2101:23717:18319,LH00995:48:23YTGFLT4:1:2101:23725:18333,LH00995:48:23YTGFLT4:1:2101:45042:18123,LH00995:48:23YTGFLT4:1:2124:39662:25788,LH00995:48:23YTGFLT4:1:2133:30286:24344,LH00995:48:23YTGFLT4:1:2138:50325:17549,LH00995:48:23YTGFLT4:1:2150:7990:7586,LH00995:48:23YTGFLT4:1:2154:23272:18838,LH00995:48:23YTGFLT4:1:2154:24024:14480,LH00995:48:23YTGFLT4:1:2157:49605:26923,LH00995:48:23YTGFLT4:1:2179:24024:11481,LH00995:48:23YTGFLT4:1:2228:12431:20547,LH00995:48:23YTGFLT4:1:2233:18936:22004,LH00995:48:23YTGFLT4:1:2233:18944:22018,LH00995:48:23YTGFLT4:1:2233:18952:22004,LH00995:48:23YTGFLT4:1:2233:41943:7628,LH00995:48:23YTGFLT4:1:2361:33287:9449,LH00995:48:23YTGFLT4:1:2366:31402:18768,LH00995:48:23YTGFLT4:1:2370:48691:20631,LH00995:48:23YTGFLT4:1:2401:46069:20827,LH00995:48:23YTGFLT4:1:2437:50244:19118,LH00995:48:23YTGFLT4:1:2486:47574:25031,LH00995:48:23YTGFLT4:2:1107:30383:11649,LH00995:48:23YTGFLT4:2:1135:30982:22411,LH00995:48:23YTGFLT4:2:1144:38513:1939,LH00995:48:23YTGFLT4:2:1177:26823:16105,LH00995:48:23YTGFLT4:2:1177:34509:6885,LH00995:48:23YTGFLT4:2:1207:44993:14312,LH00995:48:23YTGFLT4:2:1224:2100:18067,LH00995:48:23YTGFLT4:2:1227:16945:12672,LH00995:48:23YTGFLT4:2:1227:51352:28969,LH00995:48:23YTGFLT4:2:1229:8176:23518,LH00995:48:23YTGFLT4:2:1247:1218:18025,LH00995:48:23YTGFLT4:2:1279:17892:21374,LH00995:48:23YTGFLT4:2:1284:14882:1869,LH00995:48:23YTGFLT4:2:1285:20262:17324,LH00995:48:23YTGFLT4:2:1292:9503:28394,LH00995:48:23YTGFLT4:2:1308:29331:1869,LH00995:48:23YTGFLT4:2:1308:29347:1869,LH00995:48:23YTGFLT4:2:1334:30496:21374,LH00995:48:23YTGFLT4:2:1339:1024:9393,LH00995:48:23YTGFLT4:2:1358:9511:1785,LH00995:48:23YTGFLT4:2:1456:10951:14340,LH00995:48:23YTGFLT4:2:1491:48650:13975,LH00995:48:23YTGFLT4:2:2162:13815:4307,LH00995:48:23YTGFLT4:2:2184:24048:15391,LH00995:48:23YTGFLT4:2:2216:47000:8763,LH00995:48:23YTGFLT4:2:2220:32672:7151,LH00995:48:23YTGFLT4:2:2223:18838:24667,LH00995:48:23YTGFLT4:2:2237:31402:12210,LH00995:48:23YTGFLT4:2:2250:37001:28744,LH00995:48:23YTGFLT4:2:2262:3969:19650,LH00995:48:23YTGFLT4:2:2278:29946:3550,LH00995:48:23YTGFLT4:2:2339:11938:13051,LH00995:48:23YTGFLT4:2:2356:4090:14200,LH00995:48:23YTGFLT4:2:2434:44419:3368,LH00995:48:23YTGFLT4:2:2445:19356:11383,LH00995:48:23YTGFLT4:2:2445:19364:11369,LH00995:48:23YTGFLT4:2:2457:49411:28408,LH00995:48:23YTGFLT4:2:2490:24825:23798,LH00995:48:23YTGFLT4:2:2491:21532:14312,LH00995:48:23YTGFLT4:2:2492:6809:7334,LH00995:48:23YTGFLT4:3:1116:31443:3452,LH00995:48:23YTGFLT4:3:1125:22851:19875,LH00995:48:23YTGFLT4:3:1182:36386:21514,LH00995:48:23YTGFLT4:3:1205:2683:28072,LH00995:48:23YTGFLT4:3:1217:17843:14508,LH00995:48:23YTGFLT4:3:1226:23701:28884,LH00995:48:23YTGFLT4:3:1268:20764:27665,LH00995:48:23YTGFLT4:3:1280:42016:1392,LH00995:48:23YTGFLT4:3:1292:41272:1589,LH00995:48:23YTGFLT4:3:1307:2723:18277,LH00995:48:23YTGFLT4:3:1355:42672:23770,LH00995:48:23YTGFLT4:3:1355:42680:23784,LH00995:48:23YTGFLT4:3:1419:10498:14676,LH00995:48:23YTGFLT4:3:1425:7213:13611,LH00995:48:23YTGFLT4:3:1428:31240:5680,LH00995:48:23YTGFLT4:3:1442:13540:3382,LH00995:48:23YTGFLT4:3:1447:30173:13331,LH00995:48:23YTGFLT4:3:1451:40180:18838,LH00995:48:23YTGFLT4:3:1459:23911:15881,LH00995:48:23YTGFLT4:3:1477:43076:24415,LH00995:48:23YTGFLT4:3:2117:12043:20015,LH00995:48:23YTGFLT4:3:2137:18652:22999,LH00995:48:23YTGFLT4:3:2180:5385:12966,LH00995:48:23YTGFLT4:3:2184:30027:2709,LH00995:48:23YTGFLT4:3:2205:7529:8553,LH00995:48:23YTGFLT4:3:2217:38449:5246,LH00995:48:23YTGFLT4:3:2220:10781:24527,LH00995:48:23YTGFLT4:3:2243:44152:8286,LH00995:48:23YTGFLT4:3:2274:43375:17647,LH00995:48:23YTGFLT4:3:2318:26184:10066,LH00995:48:23YTGFLT4:3:2325:2642:13513,LH00995:48:23YTGFLT4:3:2335:18701:15797,LH00995:48:23YTGFLT4:3:2367:27883:7824,LH00995:48:23YTGFLT4:3:2367:32430:8328,LH00995:48:23YTGFLT4:3:2382:13086:16470,LH00995:48:23YTGFLT4:3:2396:27195:26138,LH00995:48:2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LT4:5:2461:40560:23700,LH00995:48:23YTGFLT4:5:2478:3467:2163,LH00995:48:23YTGFLT4:6:1122:37421:12546,LH00995:48:23YTGFLT4:6:1130:28199:17058,LH00995:48:23YTGFLT4:6:1130:28215:17058,LH00995:48:23YTGFLT4:6:1162:9300:7838,LH00995:48:23YTGFLT4:6:1194:49022:26895,LH00995:48:23YTGFLT4:6:1194:49030:26909,LH00995:48:23YTGFLT4:6:1196:19364:8679,LH00995:48:23YTGFLT4:6:1223:30860:25003,LH00995:48:23YTGFLT4:6:1224:15538:20071,LH00995:48:23YTGFLT4:6:1225:51749:24162,LH00995:48:23YTGFLT4:6:1230:8451:26853,LH00995:48:23YTGFLT4:6:1234:22568:17619,LH00995:48:23YTGFLT4:6:1342:26136:18473,LH00995:48:23YTGFLT4:6:1343:25917:21178,LH00995:48:23YTGFLT4:6:1364:4268:21486,LH00995:48:23YTGFLT4:6:1403:35318:10108,LH00995:48:23YTGFLT4:6:1421:4487:16820,LH00995:48:23YTGFLT4:6:1434:22673:10851,LH00995:48:23YTGFLT4:6:1497:14615:5778,LH00995:48:23YTGFLT4:6:2154:48780:15993,LH00995:48:23YTGFLT4:6:2162:37510:15307,LH00995:48:23YTGFLT4:6:2163:5207:16049,LH00995:48:23YTGFLT4:6:2184:4891:8356,LH00995:48:23YTGFLT4:6:2215:2650:25522,LH00995:48:23YTGFLT4:6:2246:24000:13345,LH00995:48:23YTGFLT4:6:2260:10579:22579,LH00995:48:23YTGFLT4:6:2265:41927:24358,LH00995:48:23YTGFLT4:6:2275:14680:10290,LH00995:48:23YTGFLT4:6:2288:45082:4825,LH00995:48:23YTGFLT4:6:2324:48949:4097,LH00995:48:23YTGFLT4:6:2328:16007:20099,LH00995:48:23YTGFLT4:6:2330:38012:29207,LH00995:48:23YTGFLT4:6:2335:17738:22481,LH00995:48:23YTGFLT4:6:2356:32090:23742,LH00995:48:23YTGFLT4:6:2386:20303:6577,LH00995:48:23YTGFLT4:6:2386:20311:6563,LH00995:48:23YTGFLT4:6:2387:31127:1448,LH00995:48:23YTGFLT4:6:2408:51765:27890,LH00995:48:23YTGFLT4:6:2428:14648:16287,LH00995:48:23YTGFLT4:6:2463:40293:7151,LH00995:48:23YTGFLT4:7:1107:15675:15881,LH00995:48:23YTGFLT4:7:1142:19607:11201,LH00995:48:23YTGFLT4:7:1146:43448:26040,LH00995:48:23YTGFLT4:7:1164:29590:16470,LH00995:48:23YTGFLT4:7:1173:6809:21486,LH00995:48:23YTGFLT4:7:1174:46304:18347,LH00995:48:23YTGFLT4:7:1178:1194:20057,LH00995:48:23YTGFLT4:7:1178:1202:20071,LH00995:48:23YTGFLT4:7:1218:32284:27133,LH00995:48:23YTGFLT4:7:1218:42874:7137,LH00995:48:23YTGFLT4:7:1227:15586:28590,LH00995:48:23YTGFLT4:7:1230:32543:23658,LH00995:48:23YTGFLT4:7:1320:3217:17843,LH00995:48:23YTGFLT4:7:1387:31515:25830,LH00995:48:23YTGFLT4:7:1416:51554:23798,LH00995:48:23YTGFLT4:7:1416:51571:23798,LH00995:48:23YTGFLT4:7:1444:48771:16960,LH00995:48:23YTGFLT4:7:1454:19793:24330,LH00995:48:23YTGFLT4:7:1459:42065:7474,LH00995:48:23YTGFLT4:7:1481:13135:12490,LH00995:48:23YTGFLT4:7:2125:23628:3564,LH00995:48:23YTGFLT4:7:2135:35342:14774,LH00995:48:23YTGFLT4:7:2136:45179:22649,LH00995:48:23YTGFLT4:7:2136:45196:22649,LH00995:48:23YTGFLT4:7:2136:49378:21374,LH00995:48:23YTGFLT4:7:2158:34485:19258,LH00995:48:23YTGFLT4:7:2181:4252:2766,LH00995:48:23YTGFLT4:7:2185:3645:10402,LH00995:48:23YTGFLT4:7:2192:36879:14998,LH00995:48:23YTGFLT4:7:2193:31507:20351,LH00995:48:23YTGFLT4:7:2196:31127:15993,LH00995:48:23YTGFLT4:7:2219:8969:14550,LH00995:48:23YTGFLT4:7:2221:32244:3662,LH00995:48:23YTGFLT4:7:2266:4608:25101,LH00995:48:23YTGFLT4:7:2315:15716:17605,LH00995:48:23YTGFLT4:7:2317:24194:9730,LH00995:48:23YTGFLT4:7:2319:41143:7081,LH00995:48:23YTGFLT4:7:2327:31831:2499,LH00995:48:23YTGFLT4:7:2333:48990:21682,LH00995:48:23YTGFLT4:7:2373:21104:22565,LH00995:48:23YTGFLT4:7:2378:49678:18333,LH00995:48:23YTGFLT4:7:2413:42154:20463,LH00995:48:23YTGFLT4:7:2413:9624:22999,LH00995:48:23YTGFLT4:7:2455:44168:5456,LH00995:48:23YTGFLT4:7:2455:44176:5470,LH00995:48:23YTGFLT4:8:1133:33117:25522,LH00995:48:23YTGFLT4:8:1179:35116:3256,LH00995:48:23YTGFLT4:8:1180:26225:15853,LH00995:48:23YTGFLT4:8:1212:32559:5722,LH00995:48:23YTGFLT4:8:1262:10643:18684,LH00995:48:23YTGFLT4:8:1282:13960:12574,LH00995:48:23YTGFLT4:8:1288:24558:29165

ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

736

792

medium

in-frame

KRAB_box(96%),Zinc_finger__C2H2_type(9%)|KRAB_box(3%),Zinc_finger__C2H2_type(95%)

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(365),low_entropy(6)

GCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT?AA

LTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

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ARID1B

+/+

chr6:156779279

chr6:156779277

CDS

duplication/ITD

1183

1931

medium

in-frame

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

ENSG00000049618.24

ENST00000346085.10

downstream

upstream

duplicates(87),low_entropy(2),mismappers(12)

CGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCG|CCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGC

SGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP|PSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAM

LH00995:48:23YTGFLT4:1:1233:46878:25283,LH00995:48:23YTGFLT4:1:1244:47429:12532,LH00995:48:23YTGFLT4:1:1377:31952:15405,LH00995:48:23YTGFLT4:1:1390:10174:20141,LH00995:48:23YTGFLT4:1:1431:39055:13947,LH00995:48:23YTGFLT4:1:1469:21516:8735,LH00995:48:23YTGFLT4:1:2125:49661:11075,LH00995:48:23YTGFLT4:1:2218:21702:5190,LH00995:48:23YTGFLT4:1:2255:34031:29151,LH00995:48:23YTGFLT4:1:2284:46733:14466,LH00995:48:23YTGFLT4:1:2355:48852:19819,LH00995:48:23YTGFLT4:1:2376:3233:17647,LH00995:48:23YTGFLT4:1:2439:37300:20659,LH00995:48:23YTGFLT4:2:1179:22964:27021,LH00995:48:23YTGFLT4:2:1372:21120:29207,LH00995:48:23YTGFLT4:2:1401:16719:2191,LH00995:48:23YTGFLT4:2:1414:41466:18824,LH00995:48:23YTGFLT4:2:1436:34574:24232,LH00995:48:23YTGFLT4:2:2120:36402:8455,LH00995:48:23YTGFLT4:2:2120:36418:8455,LH00995:48:23YTGFLT4:2:2175:18879:7838,LH00995:48:23YTGFLT4:2:2213:12358:27035,LH00995:48:23YTGFLT4:2:2219:5700:28366,LH00995:48:23YTGFLT4:2:2239:10854:12294,LH00995:48:23YTGFLT4:2:2239:10862:12308,LH00995:48:23YTGFLT4:2:2251:40172:18936,LH00995:48:23YTGFLT4:2:2313:24582:11215,LH00995:48:23YTGFLT4:2:2329:18499:25115,LH00995:48:23YTGFLT4:2:2330:47671:27077,LH00995:48:23YTGFLT4:2:2415:8321:13681,LH00995:48:23YTGFLT4:2:2420:21807:3634,LH00995:48:23YTGFLT4:2:2443:8111:2163,LH00995:48:23YTGFLT4:2:2492:35763:15867,LH00995:48:23YTGFLT4:3:1202:32155:11327,LH00995:48:23YTGFLT4:3:1207:26435:29333,LH00995:48:23YTGFLT4:3:1279:1502:5372,LH00995:48:23YTGFLT4:3:1288:1801:12728,LH00995:48:23YTGFLT4:3:1375:8289:4153,LH00995:48:23YTGFLT4:3:1444:19000:7404,LH00995:48:23YTGFLT4:3:1453:39824:18221,LH00995:48:23YTGFLT4:3:1483:43464:10318,LH00995:48:23YTGFLT4:3:2118:17293:19160,LH00995:48:23YTGFLT4:3:2139:50495:15909,LH00995:48:23YTGFLT4:3:2157:14607:14031,LH00995:48:23YTGFLT4:3:2197:12051:25045,LH00995:48:23YTGFLT4:3:2280:26200:5694,LH00995:48:23YTGFLT4:3:2286:50147:9590,LH00995:48:23YTGFLT4:3:2317:32227:17983,LH00995:48:23YTGFLT4:3:2340:40164:28030,LH00995:48:23YTGFLT4:3:2368:9308:19454,LH00995:48:23YTGFLT4:3:2428:20295:7348,LH00995:48:23YTGFLT4:3:2469:33570:21850,LH00995:48:23YTGFLT4:4:1128:11671:1911,LH00995:48:23YTGFLT4:4:1152:20837:26194,LH00995:48:23YTGFLT4:4:1215:39233:5344,LH00995:48:23YTGFLT4:4:1324:3597:28618,LH00995:48:23YTGFLT4:4:1364:18175:28338,LH00995:48:23YTGFLT4:4:1429:19413:20141,LH00995:48:23YTGFLT4:4:1483:33878:5036,LH00995:48:23YTGFLT4:4:2101:4325:14550,LH00995:48:23YTGFLT4:4:2209:43497:13149,LH00995:48:23YTGFLT4:4:2220:3694:10823,LH00995:48:23YTGFLT4:4:2241:22414:11719,LH00995:48:23YTGFLT4:4:2317:15020:22705,LH00995:48:23YTGFLT4:4:2385:8580:17997,LH00995:48:23YTGFLT4:4:2420:28150:17619,LH00995:48:23YTGFLT4:4:2455:8621:24905,LH00995:48:23YTGFLT4:5:1186:25278:24499,LH00995:48:23YTGFLT4:5:1219:40309:29459,LH00995:48:23YTGFLT4:5:1304:38716:10444,LH00995:48:23YTGFLT4:5:1309:50042:27063,LH00995:48:23YTGFLT4:5:1316:35132:28898,LH00995:48:23YTGFLT4:5:1417:24113:27777,LH00995:48:23YTGFLT4:5:1438:49556:5568,LH00995:48:23YTGFLT4:5:1457:9737:19776,LH00995:48:23YTGFLT4:5:2106:8143:12840,LH00995:48:23YTGFLT4:5:2214:51805:12462,LH00995:48:23YTGFLT4:5:2269:48375:4335,LH00995:48:23YTGFLT4:5:2269:48383:4321,LH00995:48:23YTGFLT4:5:2276:34735:15657,LH00995:48:23YTGFLT4:5:2321:46862:23125,LH00995:48:23YTGFLT4:5:2446:1558:13681,LH00995:48:23YTGFLT4:5:2449:44071:17619,LH00995:48:23YTGFLT4:5:2497:41126:6325,LH00995:48:23YTGFLT4:6:1207:3613:7572,LH00995:48:23YTGFLT4:6:1267:6194:24288,LH00995:48:23YTGFLT4:6:1314:29266:18627,LH00995:48:23YTGFLT4:6:1314:4187:4503,LH00995:48:23YTGFLT4:6:1346:17390:28941,LH00995:48:23YTGFLT4:6:1380:4187:28212,LH00995:48:23YTGFLT4:6:1445:44403:1210,LH00995:48:23YTGFLT4:6:1450:29080:11691,LH00995:48:23YTGFLT4:6:1473:26063:15293,LH00995:48:23YTGFLT4:6:1489:38934:20603,LH00995:48:23YTGFLT4:6:2116:30779:24218,LH00995:48:23YTGFLT4:6:2145:45479:25353,LH00995:48:23YTGFLT4:6:2266:19664:20939,LH00995:48:23YTGFLT4:6:2331:13297:25269,LH00995:48:23YTGFLT4:6:2360:36823:25578,LH00995:48:23YTGFLT4:6:2490:7084:25606,LH00995:48:23YTGFLT4:7:1103:1534:16862,LH00995:48:23YTGFLT4:7:1109:46183:24499,LH00995:48:23YTGFLT4:7:1119:35107:7698,LH00995:48:23YTGFLT4:7:1125:3451:23238,LH00995:48:23YTGFLT4:7:1146:32203:24162,LH00995:48:23YTGFLT4:7:1146:32219:24162,LH00995:48:23YTGFLT4:7:1154:1291:11005,LH00995:48:23YTGFLT4:7:1225:5805:2681,LH00995:48:23YTGFLT4:7:1274:4738:26054,LH00995:48:23YTGFLT4:7:1310:44039:28100,LH00995:48:23YTGFLT4:7:1314:26427:14382,LH00995:48:23YTGFLT4:7:1412:51918:1168,LH00995:48:23YTGFLT4:7:2120:7116:28548,LH00995:48:23YTGFLT4:7:2417:10554:25031,LH00995:48:23YTGFLT4:7:2447:21718:25255,LH00995:48:23YTGFLT4:7:2476:49419:12224,LH00995:48:23YTGFLT4:7:2496:24720:11257,LH00995:48:23YTGFLT4:8:1184:10433:18095,LH00995:48:23YTGFLT4:8:1191:33942:26614,LH00995:48:23YTGFLT4:8:1303:15052:24639,LH00995:48:23YTGFLT4:8:1324:44459:3915,LH00995:48:23YTGFLT4:8:1332:11784:17941,LH00995:48:23YTGFLT4:8:1393:2667:17899,LH00995:48:23YTGFLT4:8:1401:10894:10991,LH00995:48:23YTGFLT4:8:1426:14187:4139,LH00995:48:23YTGFLT4:8:1496:34064:18698,LH00995:48:23YTGFLT4:8:1496:34298:21430,LH00995:48:23YTGFLT4:8:1498:31580:2177,LH00995:48:23YTGFLT4:8:2128:18159:11187,LH00995:48:23YTGFLT4:8:2152:3573:25970,LH00995:48:23YTGFLT4:8:2208:51158:2121,LH00995:48:23YTGFLT4:8:2312:27187:18417,LH00995:48:23YTGFLT4:8:2326:50503:6843,LH00995:48:23YTGFLT4:8:2332:27632:26614,LH00995:48:23YTGFLT4:8:2357:41668:12252,LH00995:48:23YTGFLT4:1:1118:45924:3396,LH00995:48:23YTGFLT4:1:1133:41304:23588,LH00995:48:23YTGFLT4:1:1145:29436:14101,LH00995:48:23YTGFLT4:1:1191:25238:26783,LH00995:48:23YTGFLT4:1:1452:37138:18081,LH00995:48:23YTGFLT4:1:2126:10676:21598,LH00995:48:23YTGFLT4:1:2184:24801:2261,LH00995:48:23YTGFLT4:1:2195:45875:3901,LH00995:48:23YTGFLT4:1:2319:4438:12700,LH00995:48:23YTGFLT4:1:2332:48068:23672,LH00995:48:23YTGFLT4:2:1241:26314:24639,LH00995:48:23YTGFLT4:2:1370:51482:17563,LH00995:48:23YTGFLT4:2:1397:42664:13303,LH00995:48:23YTGFLT4:2:2163:11201:5554,LH00995:48:23YTGFLT4:2:2205:13928:18235,LH00995:48:23YTGFLT4:2:2328:44176:16400,LH00995:48:23YTGFLT4:2:2365:20416:29473,LH00995:48:23YTGFLT4:2:2435:10627:23364,LH00995:48:23YTGFLT4:2:2449:29744:23041,LH00995:48:23YTGFLT4:2:2484:20909:9029,LH00995:48:23YTGFLT4:2:2485:30990:23490,LH00995:48:23YTGFLT4:3:1105:39225:4769,LH00995:48:23YTGFLT4:3:1126:23644:12560,LH00995:48:23YTGFLT4:3:1271:9195:21248,LH00995:48:23YTGFLT4:3:1281:50754:7221,LH00995:48:23YTGFLT4:3:1291:23709:26208,LH00995:48:23YTGFLT4:3:1291:23717:26194,LH00995:48:23YTGFLT4:3:1312:51692:13051,LH00995:48:23YTGFLT4:3:1328:2667:13499,LH00995:48:23YTGFLT4:3:1354:17487:27399,LH00995:48:23YTGFLT4:3:2162:25513:2794,LH00995:48:23YTGFLT4:3:2204:23636:21318,LH00995:48:23YTGFLT4:3:2210:28021:16357,LH00995:48:23YTGFLT4:3:2307:35528:16105,LH00995:48:23YTGFLT4:3:2331:41644:22103,LH00995:48:23YTGFLT4:4:1126:7561:8160,LH00995:48:23YTGFLT4:4:1185:39241:17352,LH00995:48:23YTGFLT4:4:1288:6841:27539,LH00995:48:23YTGFLT4:4:1304:8977:6857,LH00995:48:23YTGFLT4:4:1389:10627:28352,LH00995:48:23YTGFLT4:4:1453:29137:17927,LH00995:48:23YTGFLT4:4:2210:33522:15881,LH00995:48:23YTGFLT4:4:2235:34768:1869,LH00995:48:23YTGFLT4:4:2266:37850:6058,LH00995:48:23YTGFLT4:4:2417:4754:25465,LH00995:48:23YTGFLT4:4:2479:15967:23448,LH00995:48:23YTGFLT4:4:2481:38036:23364,LH00995:48:23YTGFLT4:5:1225:22018:8202,LH00995:48:23YTGFLT4:5:1295:19858:27161,LH00995:48:23YTGFLT4:5:1335:11663:7782,LH00995:48:23YTGFLT4:5:1428:1016:25886,LH00995:48:23YTGFLT4:5:1464:34662:4994,LH00995:48:23YTGFLT4:5:2170:38465:17745,LH00995:48:23YTGFLT4:5:2217:27414:11860,LH00995:48:23YTGFLT4:5:2217:27422:11874,LH00995:48:23YTGFLT4:5:2297:2699:18599,LH00995:48:23YTGFLT4:5:2442:21249:7123,LH00995:48:23YTGFLT4:6:1122:16250:1799,LH00995:48:23YTGFLT4:6:1138:25092:9996,LH00995:48:23YTGFLT4:6:1171:47526:25676,LH00995:48:23YTGFLT4:6:1206:25367:17647,LH00995:48:23YTGFLT4:6:1257:45398:3382,LH00995:48:23YTGFLT4:6:1259:11355:19132,LH00995:48:23YTGFLT4:6:1274:38546:14101,LH00995:48:23YTGFLT4:6:1274:38554:14087,LH00995:48:23YTGFLT4:6:1350:39945:3186,LH00995:48:23YTGFLT4:6:1379:17285:15531,LH00995:48:23YTGFLT4:6:1407:20885:17591,LH00995:48:23YTGFLT4:6:1419:26904:15321,LH00995:48:23YTGFLT4:6:1465:28288:2219,LH00995:48:23YTGFLT4:6:2117:38877:17254,LH00995:48:23YTGFLT4:6:2218:49176:6058,LH00995:48:23YTGFLT4:6:2490:3581:14522,LH00995:48:23YTGFLT4:7:1148:37793:1280,LH00995:48:23YTGFLT4:7:1222:26928:26152,LH00995:48:23YTGFLT4:7:1282:17051:14340,LH00995:48:23YTGFLT4:7:1317:2909:3859,LH00995:48:23YTGFLT4:7:1456:50252:25213,LH00995:48:23YTGFLT4:7:2107:33085:2429,LH00995:48:23YTGFLT4:7:2127:8540:4111,LH00995:48:23YTGFLT4:7:2148:41863:9870,LH00995:48:23YTGFLT4:7:2350:51878:22789,LH00995:48:23YTGFLT4:7:2466:8831:10500,LH00995:48:23YTGFLT4:8:1186:41191:23952,LH00995:48:23YTGFLT4:8:1254:5927:15222,LH00995:48:23YTGFLT4:8:1297:4406:10879,LH00995:48:23YTGFLT4:8:1330:3694:12952,LH00995:48:23YTGFLT4:8:1352:51223:12126,LH00995:48:23YTGFLT4:8:1452:11784:11411,LH00995:48:23YTGFLT4:8:2124:25723:29389,LH00995:48:23YTGFLT4:8:2146:28676:24527,LH00995:48:23YTGFLT4:8:2198:39913:19804,LH00995:48:23YTGFLT4:8:2368:47615:13779,LH00995:48:23YTGFLT4:8:2378:24057:23195,LH00995:48:23YTGFLT4:8:2476:43100:16918,LH00995:48:23YTGFLT4:8:2476:43100:16918,LH00995:48:23YTGFLT4:8:2485:28822:7992,LH00995:48:23YTGFLT4:8:2485:28830:7978,LH00995:48:23YTGFLT4:8:2485:41151:27581

ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

122

599

691

medium

out-of-frame

RhoGEF_5/35_N-terminal_disordered_region(1%)|RhoGEF_5/35_N-terminal_disordered_region(99%)

ENSG00000213214.5

ENST00000378115.3

upstream

downstream

duplicates(186),low_entropy(3)

GGGACGGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAGGACC

MEAEEAQrG|g*

LH00995:48:23YTGFLT4:1:2209:19057:3102,LH00995:48:23YTGFLT4:1:2209:19057:3102,LH00995:48:23YTGFLT4:3:1203:11760:4895,LH00995:48:23YTGFLT4:3:1203:11760:4895,LH00995:48:23YTGFLT4:3:2189:1283:5442,LH00995:48:23YTGFLT4:3:2189:1283:5442,LH00995:48:23YTGFLT4:4:2376:41054:3424,LH00995:48:23YTGFLT4:4:2376:41054:3424,LH00995:48:23YTGFLT4:6:2463:41855:23700,LH00995:48:23YTGFLT4:6:2463:41855:23700,LH00995:48:23YTGFLT4:1:1158:48917:26292,LH00995:48:23YTGFLT4:1:1158:48917:26292,LH00995:48:23YTGFLT4:1:1169:49079:11747,LH00995:48:23YTGFLT4:1:1169:49079:11747,LH00995:48:23YTGFLT4:1:1218:43319:13345,LH00995:48:23YTGFLT4:1:1218:43319:13345,LH00995:48:23YTGFLT4:1:1269:32980:10739,LH00995:48:23YTGFLT4:1:1269:32980:10739,LH00995:48:23YTGFLT4:1:1295:34832:8511,LH00995:48:23YTGFLT4:1:1295:34832:8511,LH00995:48:23YTGFLT4:1:1327:40811:5554,LH00995:48:23YTGFLT4:1:1327:40811:5554,LH00995:48:23YTGFLT4:1:1433:5627:23812,LH00995:48:23YTGFLT4:1:1460:18102:2261,LH00995:48:23YTGFLT4:1:1460:18102:2261,LH00995:48:23YTGFLT4:1:1466:36572:2219,LH00995:48:23YTGFLT4:1:1466:36588:2219,LH00995:48:23YTGFLT4:1:1483:38538:5400,LH00995:48:23YTGFLT4:1:1483:38538:5400,LH00995:48:23YTGFLT4:1:2110:10336:5820,LH00995:48:23YTGFLT4:1:2110:10336:5820,LH00995:48:23YTGFLT4:1:2142:24404:8525,LH00995:48:23YTGFLT4:1:2181:32672:15839,LH00995:48:23YTGFLT4:1:2181:32672:15839,LH00995:48:23YTGFLT4:1:2252:45382:9239,LH00995:48:23YTGFLT4:1:2252:45382:9239,LH00995:48:23YTGFLT4:1:2272:21969:3494,LH00995:48:23YTGFLT4:1:2286:15829:26180,LH00995:48:23YTGFLT4:1:2286:15829:26180,LH00995:48:23YTGFLT4:1:2306:14365:2093,LH00995:48:23YTGFLT4:1:2306:14365:2093,LH00995:48:23YTGFLT4:1:2355:1752:12560,LH00995:48:23YTGFLT4:1:2422:31556:23294,LH00995:48:23YTGFLT4:1:2422:31556:23294,LH00995:48:23YTGFLT4:1:2437:48035:28268,LH00995:48:23YTGFLT4:1:2437:48035:28268,LH00995:48:23YTGFLT4:2:1186:7731:4139,LH00995:48:23YTGFLT4:2:1186:7731:4139,LH00995:48:23YTGFLT4:2:1225:2084:10416,LH00995:48:23YTGFLT4:2:1225:2084:10416,LH00995:48:23YTGFLT4:2:1326:25472:23462,LH00995:48:23YTGFLT4:2:1332:37300:16848,LH00995:48:23YTGFLT4:2:1332:37300:16848,LH00995:48:23YTGFLT4:2:1334:6380:18193,LH00995:48:23YTGFLT4:2:1334:6380:18193,LH00995:48:23YTGFLT4:2:1355:1364:13765,LH00995:48:23YTGFLT4:2:1355:1364:13765,LH00995:48:23YTGFLT4:2:1383:11299:16343,LH00995:48:23YTGFLT4:2:1383:11299:16343,LH00995:48:23YTGFLT4:2:1388:3605:1336,LH00995:48:23YTGFLT4:2:1388:3605:1336,LH00995:48:23YTGFLT4:2:1391:23620:23644,LH00995:48:23YTGFLT4:2:1423:28142:11047,LH00995:48:23YTGFLT4:2:1423:28142:11047,LH00995:48:23YTGFLT4:2:1457:20165:25227,LH00995:48:23YTGFLT4:2:1457:20165:25227,LH00995:48:23YTGFLT4:2:2164:41976:22088,LH00995:48:23YTGFLT4:2:2164:41976:22088,LH00995:48:23YTGFLT4:2:2164:41992:22088,LH00995:48:23YTGFLT4:2:2164:41992:22088,LH00995:48:23YTGFLT4:2:2203:48504:24737,LH00995:48:23YTGFLT4:2:2203:48504:24737,LH00995:48:23YTGFLT4:2:2222:7051:4391,LH00995:48:23YTGFLT4:2:2222:7051:4391,LH00995:48:23YTGFLT4:2:2271:8621:15573,LH00995:48:23YTGFLT4:2:2271:8621:15573,LH00995:48:23YTGFLT4:2:2274:33133:13051,LH00995:48:23YTGFLT4:2:2274:33133:13051,LH00995:48:23YTGFLT4:2:2334:48763:24513,LH00995:48:23YTGFLT4:2:2334:48763:24513,LH00995:48:23YTGFLT4:2:2343:27737:23462,LH00995:48:23YTGFLT4:2:2343:27737:23462,LH00995:48:23YTGFLT4:2:2345:44775:11691,LH00995:48:23YTGFLT4:2:2345:44775:11691,LH00995:48:23YTGFLT4:2:2364:20982:12854,LH00995:48:23YTGFLT4:2:2364:20982:12854,LH00995:48:23YTGFLT4:2:2395:13111:4153,LH00995:48:23YTGFLT4:2:2395:13111:4153,LH00995:48:23YTGFLT4:2:2397:33643:28702,LH00995:48:23YTGFLT4:2:2423:2278:16722,LH00995:48:23YTGFLT4:2:2429:31483:2513,LH00995:48:23YTGFLT4:2:2429:31483:2513,LH00995:48:23YTGFLT4:2:2456:48432:14214,LH00995:48:23YTGFLT4:2:2456:48432:14214,LH00995:48:23YTGFLT4:2:2465:40253:20029,LH00995:48:23YTGFLT4:2:2476:35302:7586,LH00995:48:23YTGFLT4:3:1120:43521:2093,LH00995:48:23YTGFLT4:3:1120:43521:2093,LH00995:48:23YTGFLT4:3:1171:33562:10879,LH00995:48:23YTGFLT4:3:1171:33562:10879,LH00995:48:23YTGFLT4:3:1263:28393:24008,LH00995:48:23YTGFLT4:3:1346:22649:3550,LH00995:48:23YTGFLT4:3:1346:22649:3550,LH00995:48:23YTGFLT4:3:1379:47606:22901,LH00995:48:23YTGFLT4:3:1379:47606:22901,LH00995:48:23YTGFLT4:3:1389:47307:23280,LH00995:48:23YTGFLT4:3:1420:17617:3102,LH00995:48:23YTGFLT4:3:1420:17617:3102,LH00995:48:23YTGFLT4:3:1480:39322:17829,LH00995:48:23YTGFLT4:3:1480:39322:17829,LH00995:48:23YTGFLT4:3:2193:10983:9071,LH00995:48:23YTGFLT4:3:2234:45867:10725,LH00995:48:23YTGFLT4:3:2234:45867:10725,LH00995:48:23YTGFLT4:3:2266:17148:13555,LH00995:48:23YTGFLT4:3:2266:17148:13555,LH00995:48:23YTGFLT4:3:2301:45414:13863,LH00995:48:23YTGFLT4:3:2301:45414:13863,LH00995:48:23YTGFLT4:3:2319:13062:10346,LH00995:48:23YTGFLT4:3:2319:13062:10346,LH00995:48:23YTGFLT4:3:2329:37251:4433,LH00995:48:23YTGFLT4:3:2329:37251:4433,LH00995:48:23YTGFLT4:3:2338:21217:14466,LH00995:48:23YTGFLT4:3:2373:31273:13891,LH00995:48:23YTGFLT4:3:2373:31273:13891,LH00995:48:23YTGFLT4:3:2376:12172:4517,LH00995:48:23YTGFLT4:3:2406:37437:14984,LH00995:48:23YTGFLT4:3:243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CHIT1

-/-

chr1:203217827

chr1:203217850

CDS

duplication/ITD

855

1021

medium

Glycosyl_hydrolases_family_18(97%)|Chitin_binding_Peritrophin-A_domain(100%),Glycosyl_hydrolases_family_18(4%)

ENSG00000133063.16

ENST00000479483.1

ENST00000367229.6

upstream

downstream

duplicates(248)

GGAGCAAAAAGGGCCCTGTCCAGAAGAG___...GGCTCCTCCACTGCATCCCCTCCCTGCACAGGTCAGCTATCTGAAGCAGAAGGGACTGGGCGGGGCCATG|gtctAGGGACTGGGCGGGGCCATGGTCTGGGCACTGGACTTAGATGACTTTGCCGGCTTCTCCTGCAACCAGGGCCGATACCCCCTCATCCAGACGCTACGGCAGGAACTGAGTAAGTAAGGGGCCCA

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LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

861

916

medium

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(42),mismappers(1)

CATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCC

ILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPP

LH00995:48:23YTGFLT4:1:1232:22374:16666,LH00995:48:23YTGFLT4:1:1294:16630:28240,LH00995:48:23YTGFLT4:1:1344:8702:19440,LH00995:48:23YTGFLT4:1:1355:2100:18347,LH00995:48:23YTGFLT4:1:1394:42890:9183,LH00995:48:23YTGFLT4:1:1427:48682:19973,LH00995:48:23YTGFLT4:1:1453:39428:18179,LH00995:48:23YTGFLT4:1:2113:25933:2541,LH00995:48:23YTGFLT4:1:2157:26823:20701,LH00995:48:23YTGFLT4:1:2196:36556:27357,LH00995:48:23YTGFLT4:1:2343:46264:19118,LH00995:48:23YTGFLT4:1:2472:22204:22425,LH00995:48:23YTGFLT4:2:1132:27195:4475,LH00995:48:23YTGFLT4:2:1325:34582:29543,LH00995:48:23YTGFLT4:2:1326:16848:17128,LH00995:48:23YTGFLT4:2:1388:7723:8132,LH00995:48:23YTGFLT4:2:1459:49289:10458,LH00995:48:23YTGFLT4:2:1490:31799:11327,LH00995:48:23YTGFLT4:2:2232:6081:27455,LH00995:48:23YTGFLT4:3:1152:32875:1617,LH00995:48:23YTGFLT4:3:1191:51514:4727,LH00995:48:23YTGFLT4:3:1265:30698:4013,LH00995:48:23YTGFLT4:3:1405:37947:28618,LH00995:48:23YTGFLT4:3:1410:6064:6801,LH00995:48:23YTGFLT4:3:2139:42615:17983,LH00995:48:23YTGFLT4:3:2332:25019:28226,LH00995:48:23YTGFLT4:3:2354:47615:16245,LH00995:48:23YTGFLT4:3:2387:39525:27876,LH00995:48:23YTGFLT4:4:2126:42275:4699,LH00995:48:23YTGFLT4:4:2309:31321:3887,LH00995:48:23YTGFLT4:4:2439:38141:16540,LH00995:48:23YTGFLT4:5:1106:25844:9730,LH00995:48:23YTGFLT4:5:1106:25861:9730,LH00995:48:23YTGFLT4:5:1247:17318:16988,LH00995:48:23YTGFLT4:5:1437:4568:24106,LH00995:48:23YTGFLT4:5:1455:37462:6647,LH00995:48:23YTGFLT4:5:1475:48116:23448,LH00995:48:23YTGFLT4:5:2130:30577:8455,LH00995:48:23YTGFLT4:5:2141:38473:7193,LH00995:48:23YTGFLT4:5:2257:6946:24330,LH00995:48:23YTGFLT4:5:2275:26621:5470,LH00995:48:23YTGFLT4:5:2307:31160:22495,LH00995:48:23YTGFLT4:6:1256:47623:12504,LH00995:48:23YTGFLT4:6:1380:44557:24569,LH00995:48:23YTGFLT4:6:2142:13863:8679,LH00995:48:23YTGFLT4:6:2235:20683:29011,LH00995:48:23YTGFLT4:6:2277:42874:25942,LH00995:48:23YTGFLT4:6:2345:12447:7516,LH00995:48:23YTGFLT4:6:2403:32705:11411,LH00995:48:23YTGFLT4:7:1221:25052:28646,LH00995:48:23YTGFLT4:7:1283:45074:13891,LH00995:48:23YTGFLT4:7:1309:10554:1434,LH00995:48:23YTGFLT4:7:2251:26144:10220,LH00995:48:23YTGFLT4:7:2260:31653:1546,LH00995:48:23YTGFLT4:7:2314:50721:25297,LH00995:48:23YTGFLT4:7:2404:30326:5974,LH00995:48:23YTGFLT4:7:2477:49718:22887,LH00995:48:23YTGFLT4:8:1261:22228:25914,LH00995:48:23YTGFLT4:8:1315:26306:23223,LH00995:48:23YTGFLT4:8:1442:31920:3971,LH00995:48:23YTGFLT4:8:2123:26613:27707,LH00995:48:23YTGFLT4:8:2185:46846:17969,LH00995:48:23YTGFLT4:8:2358:45576:2177,LH00995:48:23YTGFLT4:1:1302:21403:3634,LH00995:48:23YTGFLT4:1:1347:26928:10598,LH00995:48:23YTGFLT4:1:2476:40293:19594,LH00995:48:23YTGFLT4:2:2143:8459:22607,LH00995:48:23YTGFLT4:2:2487:44443:26054,LH00995:48:23YTGFLT4:3:1192:28385:13401,LH00995:48:23YTGFLT4:3:1423:33109:25395,LH00995:48:23YTGFLT4:3:1423:33125:25395,LH00995:48:23YTGFLT4:3:1423:33133:25381,LH00995:48:23YTGFLT4:3:2146:10481:17142,LH00995:48:23YTGFLT4:3:2215:44686:14844,LH00995:48:23YTGFLT4:3:2286:50842:27777,LH00995:48:23YTGFLT4:3:2376:50786:22159,LH00995:48:23YTGFLT4:4:1116:25513:4167,LH00995:48:23YTGFLT4:4:1198:5725:2373,LH00995:48:23YTGFLT4:4:1211:31985:14396,LH00995:48:23YTGFLT4:4:1226:38020:17226,LH00995:48:23YTGFLT4:4:1227:51668:22397,LH00995:48:23YTGFLT4:4:1340:18110:21332,LH00995:48:23YTGFLT4:4:1374:1558:29515,LH00995:48:23YTGFLT4:4:1374:1566:29501,LH00995:48:23YTGFLT4:4:2128:20424:5498,LH00995:48:23YTGFLT4:4:2145:13507:22271,LH00995:48:23YTGFLT4:4:2232:22196:24036,LH00995:48:23YTGFLT4:4:2267:46668:10598,LH00995:48:23YTGFLT4:4:2319:33627:8497,LH00995:48:23YTGFLT4:5:1102:8580:5638,LH00995:48:23YTGFLT4:5:1343:50389:23434,LH00995:48:23YTGFLT4:5:1448:45463:25662,LH00995:48:23YTGFLT4:5:2231:28635:19020,LH00995:48:23YTGFLT4:6:1144:24963:16385,LH00995:48:23YTGFLT4:6:1263:49386:23266,LH00995:48:23YTGFLT4:6:1488:12302:19146,LH00995:48:23YTGFLT4:6:2219:23094:17268,LH00995:48:23YTGFLT4:7:1393:8168:19104,LH00995:48:23YTGFLT4:7:2222:12237:9113,LH00995:48:23YTGFLT4:7:2222:12253:9113,LH00995:48:23YTGFLT4:7:2236:47251:7292,LH00995:48:23YTGFLT4:8:1488:32964:2471,LH00995:48:23YTGFLT4:8:1488:32972:2485,LH00995:48:23YTGFLT4:8:2301:37170:4209,LH00995:48:23YTGFLT4:8:2415:45722:11677,LH00995:48:23YTGFLT4:3:1206:31054:22957,LH00995:48:23YTGFLT4:5:2202:12197:4587,LH00995:48:23YTGFLT4:6:1447:22002:3438

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000242419.5

ENST00000610583.1

ENST00000306593.1

downstream

upstream

duplicates(86),mismappers(1)

AGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:48:23YTGFLT4:1:1224:16889:10080,LH00995:48:23YTGFLT4:1:1432:50980:3971,LH00995:48:23YTGFLT4:1:1477:12286:8525,LH00995:48:23YTGFLT4:1:1494:31969:13695,LH00995:48:23YTGFLT4:1:2116:15958:9786,LH00995:48:23YTGFLT4:1:2198:13224:3452,LH00995:48:23YTGFLT4:1:2247:33174:10290,LH00995:48:23YTGFLT4:1:2432:36653:13401,LH00995:48:23YTGFLT4:1:2442:41280:28646,LH00995:48:23YTGFLT4:1:2447:29485:17408,LH00995:48:23YTGFLT4:1:2492:3645:18081,LH00995:48:23YTGFLT4:2:1181:22050:10500,LH00995:48:23YTGFLT4:2:1323:17051:14620,LH00995:48:23YTGFLT4:2:1408:4729:7404,LH00995:48:23YTGFLT4:2:2261:28652:25606,LH00995:48:23YTGFLT4:2:2269:40414:25493,LH00995:48:23YTGFLT4:2:2307:47695:2401,LH00995:48:23YTGFLT4:2:2307:47712:2401,LH00995:48:23YTGFLT4:2:2338:30804:22915,LH00995:48:23YTGFLT4:2:2346:49896:6633,LH00995:48:23YTGFLT4:2:2378:27818:24471,LH00995:48:23YTGFLT4:2:2475:28514:2555,LH00995:48:23YTGFLT4:2:2492:34687:15769,LH00995:48:23YTGFLT4:2:2494:50147:3901,LH00995:48:23YTGFLT4:2:2496:5878:17184,LH00995:48:23YTGFLT4:3:1347:26467:28324,LH00995:48:23YTGFLT4:3:1433:8548:14522,LH00995:48:23YTGFLT4:3:1478:16153:24583,LH00995:48:23YTGFLT4:3:2112:12536:25045,LH00995:48:23YTGFLT4:3:2141:16638:1266,LH00995:48:23YTGFLT4:3:2141:16654:1266,LH00995:48:23YTGFLT4:3:2214:19453:5246,LH00995:48:23YTGFLT4:3:2244:12237:3200,LH00995:48:23YTGFLT4:3:2302:36620:1434,LH00995:48:23YTGFLT4:3:2425:38432:13513,LH00995:48:23YTGFLT4:3:2498:46417:16890,LH00995:48:23YTGFLT4:4:1221:39549:20351,LH00995:48:23YTGFLT4:4:1224:29922:24471,LH00995:48:23YTGFLT4:4:1250:22309:10977,LH00995:48:23YTGFLT4:4:1253:33036:27035,LH00995:48:23YTGFLT4:4:1317:8985:11019,LH00995:48:23YTGFLT4:4:1348:17002:28716,LH00995:48:23YTGFLT4:4:1424:51255:6157,LH00995:48:23YTGFLT4:4:2178:20068:5078,LH00995:48:23YTGFLT4:4:2178:20076:5064,LH00995:48:23YTGFLT4:4:2410:22803:12924,LH00995:48:23YTGFLT4:4:2410:22811:12910,LH00995:48:23YTGFLT4:4:2428:15740:18515,LH00995:48:23YTGFLT4:4:2478:33376:3578,LH00995:48:23YTGFLT4:5:1132:31993:20631,LH00995:48:23YTGFLT4:5:1147:37017:25409,LH00995:48:23YTGFLT4:5:1156:41264:24919,LH00995:48:23YTGFLT4:5:1252:47671:4069,LH00995:48:23YTGFLT4:5:1433:9381:10781,LH00995:48:23YTGFLT4:5:2209:10595:12742,LH00995:48:23YTGFLT4:5:2371:42639:12280,LH00995:48:23YTGFLT4:5:2371:42647:12294,LH00995:48:23YTGFLT4:5:2393:47162:28016,LH00995:48:23YTGFLT4:5:2482:41652:17156,LH00995:48:23YTGFLT4:6:1129:27948:4881,LH00995:48:23YTGFLT4:6:1224:25084:27357,LH00995:48:23YTGFLT4:6:1224:25092:27371,LH00995:48:23YTGFLT4:6:1225:26742:28240,LH00995:48:23YTGFLT4:6:1354:27430:4629,LH00995:48:23YTGFLT4:6:1425:38546:2527,LH00995:48:23YTGFLT4:6:1450:26427:26769,LH00995:48:23YTGFLT4:6:1450:26443:26769,LH00995:48:23YTGFLT4:6:1450:26451:26755,LH00995:48:23YTGFLT4:6:2238:2618:2401,LH00995:48:23YTGFLT4:6:2324:7027:6030,LH00995:48:23YTGFLT4:6:2345:9948:19833,LH00995:48:23YTGFLT4:6:2381:32745:20617,LH00995:48:23YTGFLT4:6:2480:7521:7278,LH00995:48:23YTGFLT4:7:1240:13726:10206,LH00995:48:23YTGFLT4:7:1307:32122:2667,LH00995:48:23YTGFLT4:7:1359:48132:29109,LH00995:48:23YTGFLT4:7:1394:21937:9632,LH00995:48:23YTGFLT4:7:1396:24590:7334,LH00995:48:23YTGFLT4:7:1450:24380:9071,LH00995:48:23YTGFLT4:7:2341:7788:6395,LH00995:48:23YTGFLT4:7:2363:37049:17591,LH00995:48:23YTGFLT4:8:1177:6380:20996,LH00995:48:23YTGFLT4:8:1228:45042:6829,LH00995:48:23YTGFLT4:8:1331:32858:26110,LH00995:48:23YTGFLT4:8:1449:18838:15447,LH00995:48:23YTGFLT4:8:2323:21209:3522,LH00995:48:23YTGFLT4:8:2405:14146:28562,LH00995:48:23YTGFLT4:8:2447:27147:19020,LH00995:48:23YTGFLT4:1:1252:27284:2303,LH00995:48:23YTGFLT4:1:1339:38076:22229,LH00995:48:23YTGFLT4:1:1389:13507:2093,LH00995:48:23YTGFLT4:1:2192:16339:9576,LH00995:48:23YTGFLT4:1:2203:22527:8833,LH00995:48:23YTGFLT4:1:2230:14462:24008,LH00995:48:23YTGFLT4:1:2232:41054:11019,LH00995:48:23YTGFLT4:1:2318:6161:8931,LH00995:48:23YTGFLT4:1:2449:22487:22999,LH00995:48:23YTGFLT4:2:1144:33805:1266,LH00995:48:23YTGFLT4:2:1292:23749:1196,LH00995:48:23YTGFLT4:2:1461:22641:3312,LH00995:48:23YTGFLT4:2:1494:42542:7852,LH00995:48:23YTGFLT4:2:2102:19421:12084,LH00995:48:23YTGFLT4:2:2221:50252:5400,LH00995:48:23YTGFLT4:2:2236:22350:3844,LH00995:48:23YTGFLT4:2:2316:24291:6731,LH00995:48:23YTGFLT4:2:2419:28927:16301,LH00995:48:23YTGFLT4:2:2472:51029:24457,LH00995:48:23YTGFLT4:3:1249:38885:25844,LH00995:48:23YTGFLT4:3:2185:16153:3228,LH00995:48:23YTGFLT4:3:2386:40625:17591,LH00995:48:23YTGFLT4:3:2415:22010:25143,LH00995:48:23YTGFLT4:3:2486:12302:9253,LH00995:48:23YTGFLT4:4:1106:48456:13499,LH00995:48:23YTGFLT4:4:1152:37017:25353,LH00995:48:23YTGFLT4:4:1159:31693:17450,LH00995:48:23YTGFLT4:4:1369:22503:2429,LH00995:48:23YTGFLT4:4:2332:3071:27707,LH00995:48:23YTGFLT4:4:2332:51854:11593,LH00995:48:23YTGFLT4:4:2336:37284:7684,LH00995:48:23YTGFLT4:5:1481:39622:13275,LH00995:48:23YTGFLT4:5:2232:33231:1757,LH00995:48:23YTGFLT4:5:2262:34363:2990,LH00995:48:23YTGFLT4:5:2274:50187:21262,LH00995:48:23YTGFLT4:5:2281:27859:26110,LH00995:48:23YTGFLT4:5:2330:16428:8244,LH00995:48:23YTGFLT4:5:2406:18871:1967,LH00995:48:23YTGFLT4:6:1379:4907:18137,LH00995:48:23YTGFLT4:6:1434:20974:12644,LH00995:48:23YTGFLT4:6:2194:25092:1953,LH00995:48:23YTGFLT4:6:2271:10967:15040,LH00995:48:23YTGFLT4:6:2292:52113:25634,LH00995:48:23YTGFLT4:6:2303:21921:11229,LH00995:48:23YTGFLT4:6:2306:9308:2079,LH00995:48:23YTGFLT4:6:2395:47129:28632,LH00995:48:23YTGFLT4:7:1163:13661:11411,LH00995:48:23YTGFLT4:7:1202:3087:23560,LH00995:48:23YTGFLT4:7:2156:2286:16259,LH00995:48:23YTGFLT4:7:2172:51797:3564,LH00995:48:23YTGFLT4:7:2279:15570:26769,LH00995:48:23YTGFLT4:8:1341:6712:23560,LH00995:48:23YTGFLT4:8:1429:31782:17773,LH00995:48:23YTGFLT4:8:2475:43335:1154

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000240764.4

ENST00000610583.1

ENST00000252087.3

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000253767.3

ENST00000610583.1

ENST00000398604.3

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000253305.2

ENST00000610583.1

ENST00000520790.1

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000253873.6

ENST00000610583.1

ENST00000398587.7

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000253846.2

ENST00000610583.1

ENST00000398610.2

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000261934.2

ENST00000610583.1

ENST00000573521.1

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000253159.3

ENST00000610583.1

ENST00000252085.4

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000240184.7

ENST00000610583.1

ENST00000308177.5

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

498

11451

medium

in-frame

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

ENSG00000253731.3

ENSG00000254122.3

ENST00000610583.1

ENST00000398594.4

downstream

upstream

duplicates(86),mismappers(1)

DSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

CCCACGAGGTCTCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAG

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

LH00995:48:23YTGFLT4:1:1143:39088:25269,LH00995:48:23YTGFLT4:1:1147:37518:13331,LH00995:48:23YTGFLT4:1:1147:37534:13331,LH00995:48:23YTGFLT4:1:1170:6768:23854,LH00995:48:23YTGFLT4:1:1191:8993:2653,LH00995:48:23YTGFLT4:1:1195:24736:5120,LH00995:48:23YTGFLT4:1:1310:22188:19706,LH00995:48:23YTGFLT4:1:1357:13823:27021,LH00995:48:23YTGFLT4:1:1413:14486:27890,LH00995:48:23YTGFLT4:1:1434:11841:5820,LH00995:48:23YTGFLT4:1:1456:39953:26152,LH00995:48:23YTGFLT4:1:2146:5215:17633,LH00995:48:23YTGFLT4:1:2172:36596:17955,LH00995:48:23YTGFLT4:1:2215:51813:9309,LH00995:48:23YTGFLT4:1:2282:4236:25942,LH00995:48:23YTGFLT4:1:2303:5247:27385,LH00995:48:23YTGFLT4:1:2390:42550:6633,LH00995:48:23YTGFLT4:2:1127:2812:29277,LH00995:48:23YTGFLT4:2:1159:44961:14508,LH00995:48:23YTGFLT4:2:1222:38416:25227,LH00995:48:23YTGFLT4:2:1344:45099:13849,LH00995:48:23YTGFLT4:2:1346:20780:27357,LH00995:48:23YTGFLT4:2:1365:48302:29599,LH00995:48:23YTGFLT4:2:1388:30844:11495,LH00995:48:23YTGFLT4:2:1454:22382:17324,LH00995:48:23YTGFLT4:2:2122:5789:24709,LH00995:48:23YTGFLT4:2:2165:2189:18557,LH00995:48:23YTGFLT4:2:2165:2205:18557,LH00995:48:23YTGFLT4:2:2258:48820:28730,LH00995:48:23YTGFLT4:2:2410:11752:21248,LH00995:48:23YTGFLT4:2:2498:40285:11145,LH00995:48:23YTGFLT4:3:1184:30423:10262,LH00995:48:23YTGFLT4:3:1189:45568:13933,LH00995:48:23YTGFLT4:3:2105:16007:21892,LH00995:48:23YTGFLT4:3:2130:39055:25858,LH00995:48:23YTGFLT4:3:2131:28433:5498,LH00995:48:23YTGFLT4:3:2148:34662:23350,LH00995:48:23YTGFLT4:3:2269:28627:19090,LH00995:48:23YTGFLT4:3:2272:20885:10921,LH00995:48:23YTGFLT4:3:2358:27770:18333,LH00995:48:23YTGFLT4:3:2381:27778:27904,LH00995:48:23YTGFLT4:3:2384:14268:29725,LH00995:48:23YTGFLT4:3:2476:37292:17282,LH00995:48:23YTGFLT4:4:1162:27543:21920,LH00995:48:23YTGFLT4:4:1163:48132:7530,LH00995:48:23YTGFLT4:4:1306:48610:3592,LH00995:48:23YTGFLT4:4:1323:26047:21850,LH00995:48:23YTGFLT4:4:1323:30456:20687,LH00995:48:23YTGFLT4:4:1410:30820:25578,LH00995:48:23YTGFLT4:4:1470:1154:14466,LH00995:48:23YTGFLT4:4:2104:15344:1154,LH00995:48:23YTGFLT4:4:2145:18127:19258,LH00995:48:23YTGFLT4:4:2209:4924:22425,LH00995:48:23YTGFLT4:4:2283:5458:23350,LH00995:48:23YTGFLT4:4:2368:42162:25381,LH00995:48:23YTGFLT4:4:2410:44298:17254,LH00995:48:23YTGFLT4:4:2410:44306:17240,LH00995:48:23YTGFLT4:5:1122:5288:3606,LH00995:48:23YTGFLT4:5:1122:5296:3592,LH00995:48:23YTGFLT4:5:1156:25375:21920,LH00995:48:23YTGFLT4:5:1246:46312:11383,LH00995:48:23YTGFLT4:5:2102:4212:15363,LH00995:48:23YTGFLT4:5:2148:41515:25662,LH00995:48:23YTGFLT4:5:2174:36418:21290,LH00995:48:23YTGFLT4:5:2179:26063:10697,LH00995:48:23YTGFLT4:5:2218:32551:9043,LH00995:48:23YTGFLT4:5:2367:26144:26727,LH00995:48:23YTGFLT4:5:2391:10481:6913,LH00995:48:23YTGFLT4:6:1160:23401:16624,LH00995:48:23YTGFLT4:6:1247:8030:20127,LH00995:48:23YTGFLT4:6:1329:45268:9211,LH00995:48:23YTGFLT4:6:1346:28611:14494,LH00995:48:23YTGFLT4:6:1422:44921:25115,LH00995:48:23YTGFLT4:6:1422:44937:25115,LH00995:48:23YTGFLT4:6:1442:29970:18501,LH00995:48:23YTGFLT4:6:2184:49686:3887,LH00995:48:23YTGFLT4:6:2247:21168:5806,LH00995:48:23YTGFLT4:6:2282:30391:24891,LH00995:48:23YTGFLT4:6:2289:15384:24457,LH00995:48:23YTGFLT4:6:2295:46005:3284,LH00995:48:23YTGFLT4:6:2317:25966:16105,LH00995:48:23YTGFLT4:6:2354:6113:28688,LH00995:48:23YTGFLT4:6:2492:15724:20841,LH00995:48:23YTGFLT4:7:1170:44201:15152,LH00995:48:23YTGFLT4:7:1250:26435:10360,LH00995:48:23YTGFLT4:7:1289:10935:28688,LH00995:48:23YTGFLT4:7:1457:27754:4433,LH00995:48:23YTGFLT4:7:2192:11509:27357,LH00995:48:23YTGFLT4:7:2232:26022:4965,LH00995:48:23YTGFLT4:7:2287:18191:2527,LH00995:48:23YTGFLT4:7:2294:7788:24947,LH00995:48:23YTGFLT4:7:2384:1210:12210,LH00995:48:23YTGFLT4:7:2384:22536:19160,LH00995:48:23YTGFLT4:7:2393:16217:9982,LH00995:48:23YTGFLT4:7:2402:3314:21626,LH00995:48:23YTGFLT4:7:2423:49613:26488,LH00995:48:23YTGFLT4:8:1325:21888:15853,LH00995:48:23YTGFLT4:8:1354:30893:22789,LH00995:48:23YTGFLT4:8:1413:23968:19594,LH00995:48:23YTGFLT4:8:1491:25367:19160,LH00995:48:23YTGFLT4:8:2161:31580:5540,LH00995:48:23YTGFLT4:8:2176:50300:7642,LH00995:48:23YTGFLT4:8:2319:31435:8707,LH00995:48:23YTGFLT4:8:2323:38303:22509,LH00995:48:23YTGFLT4:8:2457:37623:19706,LH00995:48:23YTGFLT4:1:1269:39961:4951,LH00995:48:23YTGFLT4:1:2344:32130:23364,LH00995:48:23YTGFLT4:2:1180:38602:10024,LH00995:48:23YTGFLT4:2:2272:40770:29109,LH00995:48:23YTGFLT4:2:2326:7747:16161,LH00995:48:23YTGFLT4:2:2340:31119:10879,LH00995:48:23YTGFLT4:3:1302:6954:18403,LH00995:48:23YTGFLT4:3:1467:37122:10262,LH00995:48:23YTGFLT4:3:2206:30698:8805,LH00995:48:23YTGFLT4:4:1311:22131:14732,LH00995:48:23YTGFLT4:4:1311:22139:14718,LH00995:48:23YTGFLT4:4:1311:35318:6913,LH00995:48:23YTGFLT4:4:2101:5725:12882,LH00995:48:23YTGFLT4:4:2164:20173:18123,LH00995:48:23YTGFLT4:4:2282:38805:7852,LH00995:48:23YTGFLT4:4:2296:26500:1084,LH00995:48:23YTGFLT4:4:2407:27746:24485,LH00995:48:23YTGFLT4:5:1201:38222:1154,LH00995:48:23YTGFLT4:5:1382:18992:16329,LH00995:48:23YTGFLT4:5:1387:2828:13835,LH00995:48:23YTGFLT4:5:1430:44193:4433,LH00995:48:23YTGFLT4:5:1430:44209:4433,LH00995:48:23YTGFLT4:5:2113:44306:3032,LH00995:48:23YTGFLT4:5:2492:51417:12434,LH00995:48:23YTGFLT4:6:1158:36402:26418,LH00995:48:23YTGFLT4:6:1158:36410:26432,LH00995:48:23YTGFLT4:6:1261:44783:20982,LH00995:48:23YTGFLT4:6:2396:1170:15082,LH00995:48:23YTGFLT4:6:2429:7763:3046,LH00995:48:23YTGFLT4:6:2453:16743:16133,LH00995:48:23YTGFLT4:7:1443:13685:10640,LH00995:48:23YTGFLT4:7:2128:44136:8735,LH00995:48:23YTGFLT4:7:2271:48019:4587,LH00995:48:23YTGFLT4:7:2457:9818:20449,LH00995:48:23YTGFLT4:7:2457:9834:20449,LH00995:48:23YTGFLT4:7:2474:5223:29641,LH00995:48:23YTGFLT4:8:1166:10150:18501,LH00995:48:23YTGFLT4:8:1194:49823:2667,LH00995:48:23YTGFLT4:8:2117:7156:24835,LH00995:48:23YTGFLT4:8:2166:19542:23336,LH00995:48:23YTGFLT4:8:2236:9697:17016,LH00995:48:23YTGFLT4:8:2480:48140:8945,LH00995:48:23YTGFLT4:8:2492:22155:17773,LH00995:48:23YTGFLT4:3:2334:16743:5344,LH00995:48:23YTGFLT4:3:2334:16751:5358,LH00995:48:23YTGFLT4:4:1125:43408:11117,LH00995:48:23YTGFLT4:4:2442:2108:5722,LH00995:48:23YTGFLT4:8:1115:21168:4433

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

342

11451

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(91),low_entropy(1),mismappers(5),mismatches(4)

HEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000242419.5

ENST00000528330.2

ENST00000306593.1

downstream

upstream

duplicates(79),mismappers(2)

GGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGAC

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:1107:13459:19889,LH00995:48:23YTGFLT4:1:1298:50179:24639,LH00995:48:23YTGFLT4:1:1355:1914:2920,LH00995:48:23YTGFLT4:1:1355:1922:2934,LH00995:48:23YTGFLT4:1:2132:50859:22509,LH00995:48:23YTGFLT4:1:2172:6477:13961,LH00995:48:23YTGFLT4:1:2258:3896:25437,LH00995:48:23YTGFLT4:1:2424:31613:16666,LH00995:48:23YTGFLT4:1:2476:26200:23854,LH00995:48:23YTGFLT4:2:1122:17625:4041,LH00995:48:23YTGFLT4:2:1243:36337:28744,LH00995:48:23YTGFLT4:2:1248:42397:18950,LH00995:48:23YTGFLT4:2:1266:37470:4727,LH00995:48:23YTGFLT4:2:1303:42291:14956,LH00995:48:23YTGFLT4:2:1363:42453:19664,LH00995:48:23YTGFLT4:2:1491:13653:8735,LH00995:48:23YTGFLT4:2:2114:32956:24429,LH00995:48:23YTGFLT4:2:2130:51983:24176,LH00995:48:23YTGFLT4:2:2196:5328:4601,LH00995:48:23YTGFLT4:2:2217:15724:2317,LH00995:48:23YTGFLT4:2:2297:18830:28436,LH00995:48:23YTGFLT4:2:2313:48561:13037,LH00995:48:23YTGFLT4:2:2365:6032:7922,LH00995:48:23YTGFLT4:2:2452:30391:1939,LH00995:48:23YTGFLT4:3:1187:34509:24905,LH00995:48:23YTGFLT4:3:1454:50300:18207,LH00995:48:23YTGFLT4:3:1454:50309:18193,LH00995:48:23YTGFLT4:3:1468:38619:5484,LH00995:48:23YTGFLT4:3:1468:38627:5470,LH00995:48:23YTGFLT4:3:2230:17657:6591,LH00995:48:23YTGFLT4:3:2424:45859:16736,LH00995:48:23YTGFLT4:3:2431:31863:8328,LH00995:48:23YTGFLT4:4:1374:13523:19160,LH00995:48:23YTGFLT4:4:2355:51223:13835,LH00995:48:23YTGFLT4:4:2355:51231:13849,LH00995:48:23YTGFLT4:4:2365:22220:18137,LH00995:48:23YTGFLT4:4:2463:44921:15531,LH00995:48:23YTGFLT4:5:1153:36717:9337,LH00995:48:23YTGFLT4:5:1263:2812:4671,LH00995:48:23YTGFLT4:5:1305:17665:24625,LH00995:48:23YTGFLT4:5:1405:45875:5330,LH00995:48:23YTGFLT4:5:1423:5417:19636,LH00995:48:23YTGFLT4:5:1440:6631:23364,LH00995:48:23YTGFLT4:5:2176:44953:27525,LH00995:48:23YTGFLT4:5:2319:32600:27511,LH00995:48:23YTGFLT4:5:2407:19138:7782,LH00995:48:23YTGFLT4:6:1180:6016:17310,LH00995:48:23YTGFLT4:6:1180:6032:17310,LH00995:48:23YTGFLT4:6:1319:35819:16105,LH00995:48:23YTGFLT4:6:1357:13143:21640,LH00995:48:23YTGFLT4:6:1360:21468:14256,LH00995:48:23YTGFLT4:6:1436:15570:21080,LH00995:48:23YTGFLT4:6:1467:13564:19903,LH00995:48:23YTGFLT4:6:1467:13580:19903,LH00995:48:23YTGFLT4:6:2225:47485:7418,LH00995:48:23YTGFLT4:6:2240:31629:22719,LH00995:48:23YTGFLT4:6:2278:18758:13457,LH00995:48:23YTGFLT4:6:2322:17754:22537,LH00995:48:23YTGFLT4:6:2405:50349:15180,LH00995:48:23YTGFLT4:6:2448:26678:2766,LH00995:48:23YTGFLT4:6:2462:6938:24541,LH00995:48:23YTGFLT4:6:2468:25068:16203,LH00995:48:23YTGFLT4:6:2484:41442:11495,LH00995:48:23YTGFLT4:6:2495:10773:22831,LH00995:48:23YTGFLT4:7:1114:6129:24625,LH00995:48:23YTGFLT4:7:1238:43772:19538,LH00995:48:23YTGFLT4:7:1247:36135:6731,LH00995:48:23YTGFLT4:7:1381:20756:3410,LH00995:48:23YTGFLT4:7:1432:33449:24891,LH00995:48:23YTGFLT4:7:2143:6145:25017,LH00995:48:23YTGFLT4:8:1244:20173:22187,LH00995:48:23YTGFLT4:8:1323:16743:3074,LH00995:48:23YTGFLT4:8:1374:38942:6969,LH00995:48:23YTGFLT4:8:1387:7553:9099,LH00995:48:23YTGFLT4:8:1425:50462:3999,LH00995:48:23YTGFLT4:8:2116:2739:6563,LH00995:48:23YTGFLT4:8:2129:40851:8679,LH00995:48:23YTGFLT4:8:2171:4196:28450,LH00995:48:23YTGFLT4:8:2327:35836:12602,LH00995:48:23YTGFLT4:8:2342:9656:13191,LH00995:48:23YTGFLT4:8:2374:19850:5176,LH00995:48:23YTGFLT4:8:2485:35738:21346,LH00995:48:23YTGFLT4:1:1207:40859:22733,LH00995:48:23YTGFLT4:1:1207:40868:22719,LH00995:48:23YTGFLT4:1:2114:17868:14522,LH00995:48:23YTGFLT4:1:2241:33773:12700,LH00995:48:23YTGFLT4:2:1331:43432:19706,LH00995:48:23YTGFLT4:2:2450:50818:7249,LH00995:48:23YTGFLT4:3:1168:35965:7025,LH00995:48:23YTGFLT4:3:1247:42566:25409,LH00995:48:23YTGFLT4:3:1282:50430:1476,LH00995:48:23YTGFLT4:3:1282:50446:1476,LH00995:48:23YTGFLT4:3:1282:50454:1490,LH00995:48:23YTGFLT4:3:1381:37745:11874,LH00995:48:23YTGFLT4:3:1468:3767:26110,LH00995:48:23YTGFLT4:3:2446:33506:13807,LH00995:48:23YTGFLT4:4:1437:46781:6311,LH00995:48:23YTGFLT4:4:2404:8621:20589,LH00995:48:23YTGFLT4:4:2490:48618:14228,LH00995:48:23YTGFLT4:5:1231:3435:21612,LH00995:48:23YTGFLT4:5:1240:3791:17184,LH00995:48:23YTGFLT4:5:1298:3136:3018,LH00995:48:23YTGFLT4:5:1352:43659:1939,LH00995:48:23YTGFLT4:5:2435:36507:6451,LH00995:48:23YTGFLT4:6:1190:24631:3592,LH00995:48:23YTGFLT4:6:1197:38546:23826,LH00995:48:23YTGFLT4:6:1252:10045:8651,LH00995:48:23YTGFLT4:6:2135:30909:4545,LH00995:48:23YTGFLT4:6:2141:10271:24148,LH00995:48:23YTGFLT4:6:2209:5013:10360,LH00995:48:23YTGFLT4:6:2311:7367:10570,LH00995:48:23YTGFLT4:7:1137:50025:10640,LH00995:48:23YTGFLT4:7:1233:39363:18740,LH00995:48:23YTGFLT4:7:2130:46967:4167,LH00995:48:23YTGFLT4:7:2213:1024:25956,LH00995:48:23YTGFLT4:7:2331:31200:28142,LH00995:48:23YTGFLT4:7:2365:3273:22088,LH00995:48:23YTGFLT4:7:2468:35666:13373,LH00995:48:23YTGFLT4:7:2468:35674:13359,LH00995:48:23YTGFLT4:8:1192:7456:15040,LH00995:48:23YTGFLT4:8:1250:3338:12616,LH00995:48:23YTGFLT4:8:1321:37801:22845,LH00995:48:23YTGFLT4:8:1340:22989:9435,LH00995:48:23YTGFLT4:8:1388:44128:25648,LH00995:48:23YTGFLT4:8:2111:7051:12266,LH00995:48:23YTGFLT4:8:2135:24194:25984,LH00995:48:23YTGFLT4:8:2402:8281:11509

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000240764.4

ENST00000528330.2

ENST00000252087.3

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000253767.3

ENST00000528330.2

ENST00000398604.3

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000253305.2

ENST00000528330.2

ENST00000520790.1

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000253873.6

ENST00000528330.2

ENST00000398587.7

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000253846.2

ENST00000528330.2

ENST00000398610.2

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000261934.2

ENST00000528330.2

ENST00000573521.1

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000253159.3

ENST00000528330.2

ENST00000252085.4

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000240184.7

ENST00000528330.2

ENST00000308177.5

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

280

11451

medium

in-frame

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

ENSG00000081853.15

ENSG00000254122.3

ENST00000528330.2

ENST00000398594.4

downstream

upstream

duplicates(79),mismappers(2)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LINC01953(46806),AC079610.2(52477)

IKZF2

./-

-/-

chr2:213214518

chr2:213148644

intergenic

CDS/splice-site

deletion/read-through

1363

medium

|Zinc_finger__C2H2_type(100%)

ENSG00000030419.16

ENST00000342002.6

upstream

downstream

duplicates(40),mismappers(1),mismatches(1)

TGACAGGCTCCAAGACTG___AGGGTGTCAGAAGCGGGATCTGAAGTGGAGCTTCTAGCGACCCCAGGAGCCCTGAGTGAATATGCAAGGCACCTGCAGGACCCACTGGTGTCCATTGATCTCTCAGAGCGCTGGAGATCGTGG|CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAaCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA

LH00995:48:23YTGFLT4:1:1208:47793:24148,LH00995:48:23YTGFLT4:1:1405:39266:14956,LH00995:48:23YTGFLT4:1:2265:16509:17156,LH00995:48:23YTGFLT4:1:2265:16525:17156,LH00995:48:23YTGFLT4:1:2311:44961:1589,LH00995:48:23YTGFLT4:2:1122:36936:23420,LH00995:48:23YTGFLT4:2:1170:26678:13023,LH00995:48:23YTGFLT4:2:1213:50082:25423,LH00995:48:23YTGFLT4:2:1213:50098:25423,LH00995:48:23YTGFLT4:2:1218:37518:12630,LH00995:48:23YTGFLT4:2:1282:27139:14354,LH00995:48:23YTGFLT4:2:2168:19502:8020,LH00995:48:23YTGFLT4:2:2404:41223:12098,LH00995:48:23YTGFLT4:2:2415:46862:3144,LH00995:48:23YTGFLT4:2:2478:19704:29473,LH00995:48:23YTGFLT4:3:1178:40625:27175,LH00995:48:23YTGFLT4:3:1205:32074:27777,LH00995:48:23YTGFLT4:3:1261:22835:16792,LH00995:48:23YTGFLT4:3:2149:48472:2149,LH00995:48:23YTGFLT4:3:2306:26047:17422,LH00995:48:23YTGFLT4:3:2442:47194:27511,LH00995:48:23YTGFLT4:4:1194:52153:21808,LH00995:48:23YTGFLT4:4:1292:22552:2345,LH00995:48:23YTGFLT4:4:1328:49993:19048,LH00995:48:23YTGFLT4:4:1431:27212:9183,LH00995:48:23YTGFLT4:4:2207:40625:21318,LH00995:48:23YTGFLT4:4:2220:5231:20659,LH00995:48:23YTGFLT4:4:2423:32316:1546,LH00995:48:23YTGFLT4:4:2423:32324:1560,LH00995:48:23YTGFLT4:4:2492:2230:3830,LH00995:48:23YTGFLT4:5:1207:23094:23882,LH00995:48:23YTGFLT4:5:1256:47623:15391,LH00995:48:23YTGFLT4:5:1256:47639:15391,LH00995:48:23YTGFLT4:5:1343:36774:11117,LH00995:48:23YTGFLT4:5:1343:36790:11117,LH00995:48:23YTGFLT4:5:2109:26168:1743,LH00995:48:23YTGFLT4:5:2144:46749:8917,LH00995:48:23YTGFLT4:5:2182:15805:28240,LH00995:48:23YTGFLT4:5:2295:37106:9786,LH00995:48:23YTGFLT4:5:2340:11250:14101,LH00995:48:23YTGFLT4:5:2397:43473:2457,LH00995:48:23YTGFLT4:5:2479:25472:14101,LH00995:48:23YTGFLT4:6:1196:47728:16245,LH00995:48:23YTGFLT4:6:1239:30156:20085,LH00995:48:23YTGFLT4:6:1279:19874:8833,LH00995:48:23YTGFLT4:6:1479:20036:25592,LH00995:48:23YTGFLT4:6:2193:10352:24793,LH00995:48:23YTGFLT4:6:2283:32292:7474,LH00995:48:23YTGFLT4:7:1172:33093:5722,LH00995:48:23YTGFLT4:7:1274:33530:27385,LH00995:48:23YTGFLT4:7:1327:27195:23924,LH00995:48:23YTGFLT4:7:1332:44006:23167,LH00995:48:23YTGFLT4:7:1362:51134:2639,LH00995:48:23YTGFLT4:7:1439:15012:9519,LH00995:48:23YTGFLT4:7:2103:26823:19748,LH00995:48:23YTGFLT4:7:2139:25440:26292,LH00995:48:23YTGFLT4:7:2222:50422:6283,LH00995:48:23YTGFLT4:7:2402:9389:12896,LH00995:48:23YTGFLT4:8:1271:11331:27553,LH00995:48:23YTGFLT4:8:1312:14543:28660,LH00995:48:23YTGFLT4:8:2209:32219:1995,LH00995:48:23YTGFLT4:8:2209:32235:1995,LH00995:48:23YTGFLT4:8:2258:5538:18277,LH00995:48:23YTGFLT4:8:2368:45673:22018,LH00995:48:23YTGFLT4:8:2414:9988:11803,LH00995:48:23YTGFLT4:8:2446:25553:21192,LH00995:48:23YTGFLT4:8:2452:30197:23994,LH00995:48:23YTGFLT4:8:2452:37219:1995,LH00995:48:23YTGFLT4:1:2471:11994:21416,LH00995:48:23YTGFLT4:2:1131:49653:15573,LH00995:48:23YTGFLT4:2:1131:49661:15559,LH00995:48:23YTGFLT4:2:2478:36879:25704,LH00995:48:23YTGFLT4:3:1221:23037:20869,LH00995:48:23YTGFLT4:3:1221:23045:20883,LH00995:48:23YTGFLT4:3:1221:23053:20869,LH00995:48:23YTGFLT4:6:1156:5660:4027,LH00995:48:23YTGFLT4:6:1419:9236:5036,LH00995:48:23YTGFLT4:6:1419:9236:5064,LH00995:48:23YTGFLT4:6:1419:9244:5050,LH00995:48:23YTGFLT4:6:1419:9252:5036,LH00995:48:23YTGFLT4:6:2205:32923:9547,LH00995:48:23YTGFLT4:6:2394:34832:1336,LH00995:48:23YTGFLT4:8:2189:22689:4433,LH00995:48:23YTGFLT4:8:2369:46547:10472,LH00995:48:23YTGFLT4:3:2303:51757:27371,LH00995:48:23YTGFLT4:7:2295:45568:15222

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000242419.5

ENST00000619750.1

ENST00000306593.1

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

CACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAG

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

LH00995:48:23YTGFLT4:1:1218:14939:9730,LH00995:48:23YTGFLT4:1:1296:18604:15040,LH00995:48:23YTGFLT4:1:1318:29145:15475,LH00995:48:23YTGFLT4:1:1332:36167:4405,LH00995:48:23YTGFLT4:1:1435:42995:14606,LH00995:48:23YTGFLT4:2:1147:49475:25269,LH00995:48:23YTGFLT4:2:1160:50551:7572,LH00995:48:23YTGFLT4:2:1446:38885:4601,LH00995:48:23YTGFLT4:2:2147:28441:11061,LH00995:48:23YTGFLT4:2:2198:33214:22607,LH00995:48:23YTGFLT4:2:2210:49192:24274,LH00995:48:23YTGFLT4:2:2337:19081:15251,LH00995:48:23YTGFLT4:2:2357:37793:13807,LH00995:48:23YTGFLT4:3:1169:2521:27511,LH00995:48:23YTGFLT4:3:1172:23353:1322,LH00995:48:23YTGFLT4:3:1209:7084:15040,LH00995:48:23YTGFLT4:3:1334:45867:18431,LH00995:48:23YTGFLT4:3:1338:26427:8441,LH00995:48:23YTGFLT4:3:1365:43197:24765,LH00995:48:23YTGFLT4:3:1394:49087:9884,LH00995:48:23YTGFLT4:3:1493:46320:24176,LH00995:48:23YTGFLT4:3:1493:46328:24162,LH00995:48:23YTGFLT4:3:1493:46328:24190,LH00995:48:23YTGFLT4:3:1493:46336:24176,LH00995:48:23YTGFLT4:3:1493:46344:24190,LH00995:48:23YTGFLT4:3:2392:4754:14732,LH00995:48:23YTGFLT4:3:2419:16395:13037,LH00995:48:23YTGFLT4:3:2419:16403:13051,LH00995:48:23YTGFLT4:3:2440:13831:22355,LH00995:48:23YTGFLT4:4:1138:26055:14606,LH00995:48:23YTGFLT4:4:1386:1987:10781,LH00995:48:23YTGFLT4:4:2244:43375:15265,LH00995:48:23YTGFLT4:4:2363:15141:1841,LH00995:48:23YTGFLT4:4:2384:18758:18557,LH00995:48:23YTGFLT4:4:2384:18774:18557,LH00995:48:23YTGFLT4:4:2462:49936:1883,LH00995:48:23YTGFLT4:5:1304:38732:20897,LH00995:48:23YTGFLT4:5:1304:38732:20897,LH00995:48:23YTGFLT4:5:1304:38732:20897,LH00995:48:23YTGFLT4:5:1304:38740:20883,LH00995:48:23YTGFLT4:5:1304:38740:20883,LH00995:48:23YTGFLT4:5:1304:38740:20883,LH00995:48:23YTGFLT4:5:1308:21832:29431,LH00995:48:23YTGFLT4:5:1308:21832:29431,LH00995:48:23YTGFLT4:5:1308:21832:29431,LH00995:48:23YTGFLT4:5:1363:13111:13317,LH00995:48:23YTGFLT4:5:1446:44346:24625,LH00995:48:23YTGFLT4:6:1120:35075:16498,LH00995:48:23YTGFLT4:6:1277:3354:10963,LH00995:48:23YTGFLT4:6:1277:3354:10963,LH00995:48:23YTGFLT4:6:1277:3354:10963,LH00995:48:23YTGFLT4:6:1277:3370:10963,LH00995:48:23YTGFLT4:6:1277:3370:10963,LH00995:48:23YTGFLT4:6:1277:3370:10963,LH00995:48:23YTGFLT4:6:2329:16339:9800,LH00995:48:23YTGFLT4:6:2331:30553:28198,LH00995:48:23YTGFLT4:7:1260:5716:1939,LH00995:48:23YTGFLT4:7:1268:29032:23910,LH00995:48:23YTGFLT4:7:1278:41992:24415,LH00995:48:23YTGFLT4:7:2449:32041:15783,LH00995:48:23YTGFLT4:7:2449:32041:15783,LH00995:48:23YTGFLT4:7:2449:32041:15783,LH00995:48:23YTGFLT4:7:2487:46490:23294,LH00995:48:23YTGFLT4:8:1219:6752:25003,LH00995:48:23YTGFLT4:8:1261:7763:8034,LH00995:48:23YTGFLT4:8:1411:43578:9730,LH00995:48:23YTGFLT4:8:1434:34501:9169,LH00995:48:23YTGFLT4:8:1455:32850:23294,LH00995:48:23YTGFLT4:8:2127:8621:22663,LH00995:48:23YTGFLT4:8:2148:10951:27343,LH00995:48:23YTGFLT4:8:2169:50842:29011,LH00995:48:23YTGFLT4:8:2240:30982:10360,LH00995:48:23YTGFLT4:8:2297:10846:22817,LH00995:48:23YTGFLT4:8:2306:2828:14760,LH00995:48:23YTGFLT4:8:2408:23223:12196,LH00995:48:23YTGFLT4:8:2408:23223:12196,LH00995:48:23YTGFLT4:8:2408:23223:12196,LH00995:48:23YTGFLT4:8:2427:4026:17955,LH00995:48:23YTGFLT4:8:2459:47615:5036,LH00995:48:23YTGFLT4:1:1116:5773:6269,LH00995:48:23YTGFLT4:1:1203:50705:12574,LH00995:48:23YTGFLT4:1:1203:50713:12588,LH00995:48:23YTGFLT4:1:1351:11897:21584,LH00995:48:23YTGFLT4:1:1409:47865:2695,LH00995:48:23YTGFLT4:1:1447:39516:3200,LH00995:48:23YTGFLT4:1:1459:33942:12210,LH00995:48:23YTGFLT4:1:2127:28182:17170,LH00995:48:23YTGFLT4:1:2188:26241:12406,LH00995:48:23YTGFLT4:1:2259:32413:24499,LH00995:48:23YTGFLT4:1:2288:51999:1729,LH00995:48:23YTGFLT4:2:1182:45002:4153,LH00995:48:23YTGFLT4:2:1182:45018:4153,LH00995:48:23YTGFLT4:2:1263:1720:11579,LH00995:48:23YTGFLT4:2:1441:14704:17871,LH00995:48:23YTGFLT4:2:2112:18232:13695,LH00995:48:23YTGFLT4:2:2203:16072:22621,LH00995:48:23YTGFLT4:2:2431:12261:11089,LH00995:48:23YTGFLT4:3:1113:7779:9856,LH00995:48:23YTGFLT4:3:1224:51425:27777,LH00995:48:23YTGFLT4:3:1261:33004:24933,LH00995:48:23YTGFLT4:3:1284:35916:12854,LH00995:48:23YTGFLT4:3:1478:32316:17773,LH00995:48:23YTGFLT4:3:2103:42874:3915,LH00995:48:23YTGFLT4:3:2422:39169:21038,LH00995:48:23YTGFLT4:3:2422:39177:21052,LH00995:48:23YTGFLT4:3:2474:29671:18347,LH00995:48:23YTGFLT4:4:1248:14680:12981,LH00995:48:23YTGFLT4:4:1262:35172:22467,LH00995:48:23YTGFLT4:4:1262:35188:22467,LH00995:48:23YTGFLT4:4:1268:28271:1799,LH00995:48:23YTGFLT4:4:2303:7674:4293,LH00995:48:23YTGFLT4:4:2430:43019:26530,LH00995:48:23YTGFLT4:5:1312:34161:7460,LH00995:48:23YTGFLT4:5:1337:45277:22369,LH00995:48:23YTGFLT4:5:1371:21282:8104,LH00995:48:23YTGFLT4:5:1469:52161:9379,LH00995:48:23YTGFLT4:5:1497:8516:3620,LH00995:48:23YTGFLT4:5:2111:23514:13149,LH00995:48:23YTGFLT4:5:2132:29533:21528,LH00995:48:23YTGFLT4:5:2391:18240:17212,LH00995:48:23YTGFLT4:5:2454:21104:4405,LH00995:48:23YTGFLT4:5:2465:32826:17450,LH00995:48:23YTGFLT4:6:1201:23231:19104,LH00995:48:23YTGFLT4:6:1369:33506:17899,LH00995:48:23YTGFLT4:6:1414:38691:21024,LH00995:48:23YTGFLT4:6:1416:22641:26292,LH00995:48:23YTGFLT4:6:2207:24930:4923,LH00995:48:23YTGFLT4:6:2253:51247:23574,LH00995:48:23YTGFLT4:6:2313:17690:1294,LH00995:48:23YTGFLT4:7:2191:19599:21248,LH00995:48:23YTGFLT4:7:2374:41507:3032,LH00995:48:23YTGFLT4:7:2417:46943:26544,LH00995:48:23YTGFLT4:8:1107:46393:13877,LH00995:48:23YTGFLT4:8:1219:3103:16077,LH00995:48:23YTGFLT4:8:1219:3111:16063,LH00995:48:23YTGFLT4:8:1247:27026:21892,LH00995:48:23YTGFLT4:8:1447:6841:21710,LH00995:48:23YTGFLT4:8:2174:10789:26082,LH00995:48:23YTGFLT4:8:2242:44152:29193,LH00995:48:23YTGFLT4:8:2360:48165:28520

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000240764.4

ENST00000619750.1

ENST00000252087.3

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000253767.3

ENST00000619750.1

ENST00000398604.3

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000253305.2

ENST00000619750.1

ENST00000520790.1

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000253873.6

ENST00000619750.1

ENST00000398587.7

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000253846.2

ENST00000619750.1

ENST00000398610.2

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000261934.2

ENST00000619750.1

ENST00000573521.1

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000253159.3

ENST00000619750.1

ENST00000252085.4

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000240184.7

ENST00000619750.1

ENST00000308177.5

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

197

11451

medium

in-frame

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

ENSG00000254245.3

ENSG00000254122.3

ENST00000619750.1

ENST00000398594.4

downstream

upstream

duplicates(96),mismappers(2),multimappers(2)

TADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

324

316

medium

in-frame

DHHA2_domain(100%)|Bcl2-/adenovirus_E1B_nineteen_kDa-interacting_protein_2(100%),Divergent_CRAL/TRIO_domain(100%)

ENSG00000106772.18

ENST00000376718.8

upstream

downstream

duplicates(83)

TTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGACAGAG

FESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELKT

LH00995:48:23YTGFLT4:2:1374:21581:16722,LH00995:48:23YTGFLT4:2:2457:43384:28366,LH00995:48:23YTGFLT4:3:1468:18782:23700,LH00995:48:23YTGFLT4:4:1338:30755:29445,LH00995:48:23YTGFLT4:5:1143:18175:2331,LH00995:48:23YTGFLT4:7:2316:19510:16638,LH00995:48:23YTGFLT4:8:2301:16072:6255,LH00995:48:23YTGFLT4:1:1134:48035:27483,LH00995:48:23YTGFLT4:1:1212:42332:11944,LH00995:48:23YTGFLT4:1:1450:36345:15727,LH00995:48:23YTGFLT4:1:2129:10312:17885,LH00995:48:23YTGFLT4:2:1374:21581:16722,LH00995:48:23YTGFLT4:2:2152:31685:14073,LH00995:48:23YTGFLT4:2:2296:17382:22145,LH00995:48:23YTGFLT4:3:1183:19955:18165,LH00995:48:23YTGFLT4:3:1183:19963:18151,LH00995:48:23YTGFLT4:3:1297:29501:1378,LH00995:48:23YTGFLT4:3:2125:2367:11888,LH00995:48:23YTGFLT4:3:2205:47550:10949,LH00995:48:23YTGFLT4:3:2273:48270:22509,LH00995:48:23YTGFLT4:3:2420:26289:2513,LH00995:48:23YTGFLT4:4:1157:23498:2611,LH00995:48:23YTGFLT4:4:1220:46061:25185,LH00995:48:23YTGFLT4:4:2218:35884:13499,LH00995:48:23YTGFLT4:4:2243:26783:3312,LH00995:48:23YTGFLT4:4:2254:5280:3508,LH00995:48:23YTGFLT4:4:2279:44637:20785,LH00995:48:23YTGFLT4:5:1267:33231:6829,LH00995:48:23YTGFLT4:5:1291:36434:16021,LH00995:48:23YTGFLT4:5:1345:26904:17535,LH00995:48:23YTGFLT4:5:1398:12795:16806,LH00995:48:23YTGFLT4:5:2213:7723:23938,LH00995:48:23YTGFLT4:5:2215:13321:27245,LH00995:48:23YTGFLT4:5:2241:44346:21066,LH00995:48:23YTGFLT4:5:2295:42162:6185,LH00995:48:23YTGFLT4:5:2314:12941:6044,LH00995:48:23YTGFLT4:5:2391:21047:12238,LH00995:48:23YTGFLT4:5:2480:6161:8455,LH00995:48:23YTGFLT4:6:1451:3152:1645,LH00995:48:23YTGFLT4:6:2244:26435:28548,LH00995:48:23YTGFLT4:6:2264:30755:1224,LH00995:48:23YTGFLT4:6:2361:6501:17450,LH00995:48:23YTGFLT4:6:2364:47210:20841,LH00995:48:23YTGFLT4:7:1148:27155:10935,LH00995:48:23YTGFLT4:7:1391:39258:5610,LH00995:48:23YTGFLT4:7:1392:46514:8034,LH00995:48:23YTGFLT4:7:1481:21727:11117,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:2295:14874:27105,LH00995:48:23YTGFLT4:1:1134:48035:27483,LH00995:48:23YTGFLT4:1:1212:42332:11944,LH00995:48:23YTGFLT4:1:1450:36345:15727,LH00995:48:23YTGFLT4:1:2129:10312:17885,LH00995:48:23YTGFLT4:2:2152:31685:14073,LH00995:48:23YTGFLT4:2:2296:17382:22145,LH00995:48:23YTGFLT4:3:1183:19955:18165,LH00995:48:23YTGFLT4:3:1183:19963:18151,LH00995:48:23YTGFLT4:3:1297:29501:1378,LH00995:48:23YTGFLT4:3:2125:2367:11888,LH00995:48:23YTGFLT4:3:2205:47550:10949,LH00995:48:23YTGFLT4:3:2273:48270:22509,LH00995:48:23YTGFLT4:3:2420:26289:2513,LH00995:48:23YTGFLT4:4:1157:23498:2611,LH00995:48:23YTGFLT4:4:1220:46061:25185,LH00995:48:23YTGFLT4:4:2218:35884:13499,LH00995:48:23YTGFLT4:4:2243:26783:3312,LH00995:48:23YTGFLT4:4:2254:5280:3508,LH00995:48:23YTGFLT4:4:2279:44637:20785,LH00995:48:23YTGFLT4:5:1267:33231:6829,LH00995:48:23YTGFLT4:5:1291:36434:16021,LH00995:48:23YTGFLT4:5:1345:26904:17535,LH00995:48:23YTGFLT4:5:1398:12795:16806,LH00995:48:23YTGFLT4:5:2213:7723:23938,LH00995:48:23YTGFLT4:5:2215:13321:27245,LH00995:48:23YTGFLT4:5:2241:44346:21066,LH00995:48:23YTGFLT4:5:2295:42162:6185,LH00995:48:23YTGFLT4:5:2391:21047:12238,LH00995:48:23YTGFLT4:5:2480:6161:8455,LH00995:48:23YTGFLT4:6:1451:3152:1645,LH00995:48:23YTGFLT4:6:2244:26435:28548,LH00995:48:23YTGFLT4:6:2264:30755:1224,LH00995:48:23YTGFLT4:6:2361:6501:17450,LH00995:48:23YTGFLT4:6:2364:47210:20841,LH00995:48:23YTGFLT4:7:1148:27155:10935,LH00995:48:23YTGFLT4:7:1391:39258:5610,LH00995:48:23YTGFLT4:7:1392:46514:8034,LH00995:48:23YTGFLT4:7:1481:21727:11117,LH00995:48:23YTGFLT4:8:2295:14874:27105,LH00995:48:23YTGFLT4:5:2234:26160:27988,LH00995:48:23YTGFLT4:8:1201:49540:18880,LH00995:48:23YTGFLT4:8:1201:49548:18894,LH00995:48:23YTGFLT4:8:1201:49556:18880,LH00995:48:23YTGFLT4:8:1201:49556:18908,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:8:1305:22657:11075,LH00995:48:23YTGFLT4:3:1297:29501:1378,LH00995:48:23YTGFLT4:3:1297:29501:1378,LH00995:48:23YTGFLT4:3:1297:29501:1378,LH00995:48:23YTGFLT4:3:2273:48270:22509,LH00995:48:23YTGFLT4:3:2273:48270:22509,LH00995:48:23YTGFLT4:3:2273:48270:22509,LH00995:48:23YTGFLT4:4:2254:5280:3508,LH00995:48:23YTGFLT4:4:2254:5280:3508,LH00995:48:23YTGFLT4:4:2254:5280:3508,LH00995:48:23YTGFLT4:4:2279:44637:20785,LH00995:48:23YTGFLT4:5:1291:36434:16021,LH00995:48:23YTGFLT4:5:1291:36434:16021,LH00995:48:23YTGFLT4:5:1291:36434:16021,LH00995:48:23YTGFLT4:7:1391:39258:5610

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

586

928

medium

in-frame

Tetratricopeptide_repeat(100%)|Acyl-CoA_dehydrogenase__C-terminal_domain(100%),Acyl-CoA_dehydrogenase__N-terminal_domain(100%),Acyl-CoA_dehydrogenase__middle_domain(100%),Phosphotransferase_enzyme_family(97%)

ENSG00000113971.20

ENSG00000240303.8

ENST00000337331.10

ENST00000264990.11

upstream

downstream

duplicates(22),mismappers(3)

AAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGCCTTGTTTTCAATTGGATT

RAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQKALFSIG

LH00995:48:23YTGFLT4:1:1117:21824:11201,LH00995:48:23YTGFLT4:1:1119:47445:28814,LH00995:48:23YTGFLT4:1:1318:32462:24863,LH00995:48:23YTGFLT4:1:2277:25618:16175,LH00995:48:23YTGFLT4:1:2441:13264:27707,LH00995:48:23YTGFLT4:2:1433:29218:15040,LH00995:48:23YTGFLT4:2:2103:44128:11271,LH00995:48:23YTGFLT4:2:2463:42024:21892,LH00995:48:23YTGFLT4:3:2245:22050:3662,LH00995:48:23YTGFLT4:4:1264:5045:24653,LH00995:48:23YTGFLT4:4:2221:48642:26404,LH00995:48:23YTGFLT4:4:2441:6881:17605,LH00995:48:23YTGFLT4:5:2265:19122:25213,LH00995:48:23YTGFLT4:5:2486:19413:25129,LH00995:48:23YTGFLT4:8:1226:3370:2135,LH00995:48:23YTGFLT4:8:1226:3378:2149,LH00995:48:23YTGFLT4:8:1481:25383:14116,LH00995:48:23YTGFLT4:8:2262:18288:24779,LH00995:48:23YTGFLT4:1:1178:37769:2892,LH00995:48:23YTGFLT4:1:2260:34598:22201,LH00995:48:23YTGFLT4:1:2464:44775:8272,LH00995:48:23YTGFLT4:1:2491:13564:3788,LH00995:48:23YTGFLT4:2:1374:31507:22705,LH00995:48:23YTGFLT4:2:2115:36353:28464,LH00995:48:23YTGFLT4:2:2117:3419:22453,LH00995:48:23YTGFLT4:2:2279:45374:27189,LH00995:48:23YTGFLT4:3:1490:9681:14746,LH00995:48:23YTGFLT4:3:2260:9001:25255,LH00995:48:23YTGFLT4:3:2292:33109:12981,LH00995:48:23YTGFLT4:3:2395:14251:11145,LH00995:48:23YTGFLT4:4:1181:27098:26362,LH00995:48:23YTGFLT4:4:1210:46822:23700,LH00995:48:23YTGFLT4:4:1409:22649:11201,LH00995:48:23YTGFLT4:4:2161:37996:16512,LH00995:48:23YTGFLT4:4:2445:51975:28310,LH00995:48:23YTGFLT4:5:1263:16678:2962,LH00995:48:23YTGFLT4:5:1288:13515:25760,LH00995:48:23YTGFLT4:5:1451:22463:10682,LH00995:48:23YTGFLT4:5:1451:22479:10682,LH00995:48:23YTGFLT4:6:1275:35253:13331,LH00995:48:23YTGFLT4:6:2328:9422:1911,LH00995:48:23YTGFLT4:7:1224:8718:12686,LH00995:48:23YTGFLT4:7:1281:5749:24022,LH00995:48:23YTGFLT4:7:1366:34671:20617,LH00995:48:23YTGFLT4:7:2269:30731:20631,LH00995:48:23YTGFLT4:7:2345:18855:14690,LH00995:48:23YTGFLT4:7:2485:47914:24835,LH00995:48:23YTGFLT4:8:1160:37365:25760,LH00995:48:23YTGFLT4:8:1267:7124:5974,LH00995:48:23YTGFLT4:8:2365:3993:28408,LH00995:48:23YTGFLT4:8:2492:12140:23209

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1811

3768

medium

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(12),mismappers(1)

GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAA

DLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEE

LH00995:48:23YTGFLT4:1:1115:32009:17268,LH00995:48:23YTGFLT4:3:2477:4827:2948,LH00995:48:23YTGFLT4:4:2162:8839:19146,LH00995:48:23YTGFLT4:5:1120:30456:9421,LH00995:48:23YTGFLT4:5:2335:32114:11621,LH00995:48:23YTGFLT4:5:2339:37737:24106,LH00995:48:23YTGFLT4:5:2366:15999:21738,LH00995:48:23YTGFLT4:6:2296:49847:14368,LH00995:48:23YTGFLT4:8:2113:48933:5330,LH00995:48:23YTGFLT4:1:1206:49087:8707,LH00995:48:23YTGFLT4:1:1206:49095:8693,LH00995:48:23YTGFLT4:1:2201:12520:29333,LH00995:48:23YTGFLT4:2:1403:20473:2836,LH00995:48:23YTGFLT4:2:2163:13256:20211,LH00995:48:23YTGFLT4:3:1104:14065:11860,LH00995:48:23YTGFLT4:4:1490:17819:10290,LH00995:48:23YTGFLT4:4:2327:17309:11733,LH00995:48:23YTGFLT4:4:2450:46563:25942,LH00995:48:23YTGFLT4:5:1160:35318:8455,LH00995:48:23YTGFLT4:5:1160:35326:8441,LH00995:48:23YTGFLT4:5:2213:50074:15685,LH00995:48:23YTGFLT4:5:2448:16614:17731,LH00995:48:23YTGFLT4:5:2449:23822:14466,LH00995:48:23YTGFLT4:5:2449:23830:14452,LH00995:48:23YTGFLT4:6:1249:36564:20057,LH00995:48:23YTGFLT4:6:1346:19025:13667,LH00995:48:23YTGFLT4:6:2179:47364:12616,LH00995:48:23YTGFLT4:7:2155:50001:3816,LH00995:48:23YTGFLT4:7:2205:25149:11635,LH00995:48:23YTGFLT4:7:2234:12059:11103,LH00995:48:23YTGFLT4:7:2234:12075:11103,LH00995:48:23YTGFLT4:8:1288:9033:6787,LH00995:48:23YTGFLT4:8:1466:24785:23532

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000242419.5

ENST00000618934.1

ENST00000306593.1

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

CCTTATTCCTACAATCCGTGTGCTGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGC

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:48:23YTGFLT4:1:1101:32616:23868,LH00995:48:23YTGFLT4:1:1119:3362:18347,LH00995:48:23YTGFLT4:1:1484:3937:26040,LH00995:48:23YTGFLT4:1:2408:13046:6927,LH00995:48:23YTGFLT4:2:1181:45317:3018,LH00995:48:23YTGFLT4:2:1226:31823:15573,LH00995:48:23YTGFLT4:2:1323:6121:8216,LH00995:48:23YTGFLT4:2:2196:19324:22313,LH00995:48:23YTGFLT4:2:2348:41232:7600,LH00995:48:23YTGFLT4:2:2411:10158:11285,LH00995:48:23YTGFLT4:3:1101:25901:23588,LH00995:48:23YTGFLT4:3:1120:23854:18333,LH00995:48:23YTGFLT4:3:1351:12431:4237,LH00995:48:23YTGFLT4:4:2424:21193:11621,LH00995:48:23YTGFLT4:5:1165:25141:9856,LH00995:48:23YTGFLT4:5:1282:42421:20533,LH00995:48:23YTGFLT4:6:1120:44516:14886,LH00995:48:23YTGFLT4:6:1284:28555:5484,LH00995:48:23YTGFLT4:6:1319:14696:6759,LH00995:48:23YTGFLT4:6:1356:9729:17240,LH00995:48:23YTGFLT4:6:2175:37737:28730,LH00995:48:23YTGFLT4:6:2365:5611:16778,LH00995:48:23YTGFLT4:7:1240:26508:18641,LH00995:48:23YTGFLT4:7:1493:47720:21780,LH00995:48:23YTGFLT4:8:1122:3063:25171,LH00995:48:23YTGFLT4:8:2135:2950:20603,LH00995:48:23YTGFLT4:8:2201:40285:9884,LH00995:48:23YTGFLT4:8:2304:37146:13191,LH00995:48:23YTGFLT4:8:2466:38635:24148,LH00995:48:23YTGFLT4:1:1230:33360:24765,LH00995:48:23YTGFLT4:1:1413:3233:7614,LH00995:48:23YTGFLT4:1:2156:20189:7221,LH00995:48:23YTGFLT4:1:2236:45301:10276,LH00995:48:23YTGFLT4:1:2444:42453:19272,LH00995:48:23YTGFLT4:2:1213:14761:18838,LH00995:48:23YTGFLT4:2:1226:12779:11173,LH00995:48:23YTGFLT4:2:1386:6469:11313,LH00995:48:23YTGFLT4:2:1390:7011:17969,LH00995:48:23YTGFLT4:2:1494:49144:25704,LH00995:48:23YTGFLT4:2:2226:8467:28674,LH00995:48:23YTGFLT4:3:1160:14486:19762,LH00995:48:23YTGFLT4:4:1438:1283:25704,LH00995:48:23YTGFLT4:4:2134:12900:20183,LH00995:48:23YTGFLT4:4:2438:18636:18179,LH00995:48:23YTGFLT4:6:1433:8054:26026,LH00995:48:23YTGFLT4:6:1433:8063:26040,LH00995:48:23YTGFLT4:6:2224:4535:19847,LH00995:48:23YTGFLT4:6:2382:44468:2303,LH00995:48:23YTGFLT4:7:1318:23264:18151,LH00995:48:23YTGFLT4:7:1392:31062:20841,LH00995:48:23YTGFLT4:7:1392:31079:20841,LH00995:48:23YTGFLT4:7:1470:21427:24218,LH00995:48:23YTGFLT4:7:2158:2804:1687,LH00995:48:23YTGFLT4:7:2258:8176:25031,LH00995:48:23YTGFLT4:7:2258:8184:25017,LH00995:48:23YTGFLT4:7:2391:16274:19188,LH00995:48:23YTGFLT4:7:2392:28368:23294,LH00995:48:23YTGFLT4:8:1411:16687:15166,LH00995:48:23YTGFLT4:8:2372:37510:14886

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000240764.4

ENST00000618934.1

ENST00000252087.3

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000253767.3

ENST00000618934.1

ENST00000398604.3

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000253305.2

ENST00000618934.1

ENST00000520790.1

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000253873.6

ENST00000618934.1

ENST00000398587.7

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000253846.2

ENST00000618934.1

ENST00000398610.2

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000261934.2

ENST00000618934.1

ENST00000573521.1

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000253159.3

ENST00000618934.1

ENST00000252085.4

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000240184.7

ENST00000618934.1

ENST00000308177.5

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

223

11451

medium

in-frame

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

ENSG00000262209.3

ENSG00000254122.3

ENST00000618934.1

ENST00000398594.4

downstream

upstream

duplicates(36),low_entropy(2),mismatches(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PKD1P3

AC138932.3(18801),PDXDC1(2670)

+/+

./-

chr16:14911907

chr16:14971921

exon/splice-site

intergenic

inversion

5785

medium

ENSG00000183458.14

ENST00000534164.6

downstream

duplicates(6),mismappers(3),mismatches(1)

CGGGCGCGGCTGCGGGCCTTGCGAGCCCCCCTGCCTCTGCGGCCTAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT|ACGAGTCTCACTCTGTTGTCCAGGCTGAAGTGTAACGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGTGATTCT

LH00995:48:23YTGFLT4:1:1181:29865:18431,LH00995:48:23YTGFLT4:1:1463:46175:12995,LH00995:48:23YTGFLT4:1:2254:15505:2836,LH00995:48:23YTGFLT4:1:2296:49653:14564,LH00995:48:23YTGFLT4:2:1292:39072:13751,LH00995:48:23YTGFLT4:3:1277:46255:7558,LH00995:48:23YTGFLT4:3:1477:12075:20211,LH00995:48:23YTGFLT4:3:2106:16120:22705,LH00995:48:23YTGFLT4:3:2219:11913:6619,LH00995:48:23YTGFLT4:3:2239:41725:23532,LH00995:48:23YTGFLT4:4:1367:42809:5876,LH00995:48:23YTGFLT4:4:1367:42817:5890,LH00995:48:23YTGFLT4:4:2374:1631:7474,LH00995:48:23YTGFLT4:4:2406:40657:1196,LH00995:48:23YTGFLT4:5:2149:25723:2261,LH00995:48:23YTGFLT4:5:2285:9826:2331,LH00995:48:23YTGFLT4:5:2415:38360:5260,LH00995:48:23YTGFLT4:5:2415:38368:5246,LH00995:48:23YTGFLT4:5:2417:30715:10010,LH00995:48:23YTGFLT4:6:1410:20618:23013,LH00995:48:23YTGFLT4:6:2104:5862:8104,LH00995:48:23YTGFLT4:6:2391:23345:17591,LH00995:48:23YTGFLT4:7:1212:22091:6283,LH00995:48:23YTGFLT4:7:2104:3176:28898,LH00995:48:23YTGFLT4:8:2304:40649:27581,LH00995:48:23YTGFLT4:1:2483:47477:5022,LH00995:48:23YTGFLT4:3:1442:30003:12644,LH00995:48:23YTGFLT4:7:1155:29469:28058,LH00995:48:23YTGFLT4:7:1155:29485:28058,LH00995:48:23YTGFLT4:8:1349:39994:29613

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

419

239

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(11)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACC

LH00995:48:23YTGFLT4:1:1415:52072:24779,LH00995:48:23YTGFLT4:1:2249:14688:19300,LH00995:48:23YTGFLT4:2:1186:50220:14900,LH00995:48:23YTGFLT4:2:1196:14567:25339,LH00995:48:23YTGFLT4:2:1270:34800:23532,LH00995:48:23YTGFLT4:2:1490:30399:27623,LH00995:48:23YTGFLT4:2:2140:26791:6941,LH00995:48:23YTGFLT4:2:2153:25003:14382,LH00995:48:23YTGFLT4:2:2473:20780:12168,LH00995:48:23YTGFLT4:2:2480:36078:10781,LH00995:48:23YTGFLT4:3:1255:43440:26306,LH00995:48:23YTGFLT4:3:1314:23434:16932,LH00995:48:23YTGFLT4:3:1364:21354:15685,LH00995:48:23YTGFLT4:4:1275:2432:17801,LH00995:48:23YTGFLT4:4:2335:15886:4391,LH00995:48:23YTGFLT4:5:1147:11468:15405,LH00995:48:23YTGFLT4:6:1256:31038:20183,LH00995:48:23YTGFLT4:6:1306:27341:19580,LH00995:48:23YTGFLT4:6:1460:38157:11355,LH00995:48:23YTGFLT4:6:2149:14526:1729,LH00995:48:23YTGFLT4:6:2388:40843:1967,LH00995:48:23YTGFLT4:6:2436:46417:9996,LH00995:48:23YTGFLT4:7:1212:15570:19230,LH00995:48:23YTGFLT4:7:1359:41183:8216,LH00995:48:23YTGFLT4:7:1359:41191:8230,LH00995:48:23YTGFLT4:8:1459:40779:27133,LH00995:48:23YTGFLT4:8:1459:40795:27133,LH00995:48:23YTGFLT4:8:2297:50996:11846,LH00995:48:23YTGFLT4:8:2341:32697:18740,LH00995:48:23YTGFLT4:8:2411:16379:3032

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

2951

3150

medium

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(12),low_entropy(1)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTC

GNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:2165:29194:23406,LH00995:48:23YTGFLT4:3:1438:20691:4391,LH00995:48:23YTGFLT4:3:2170:42210:5960,LH00995:48:23YTGFLT4:4:2130:8079:7320,LH00995:48:23YTGFLT4:4:2350:48513:6143,LH00995:48:23YTGFLT4:4:2466:31871:24737,LH00995:48:23YTGFLT4:5:2126:40220:8595,LH00995:48:23YTGFLT4:5:2187:42138:2135,LH00995:48:23YTGFLT4:5:2316:15149:28422,LH00995:48:23YTGFLT4:6:1437:49168:14648,LH00995:48:23YTGFLT4:6:2228:43100:12630,LH00995:48:23YTGFLT4:7:1411:48140:1378,LH00995:48:23YTGFLT4:7:2169:22600:19776,LH00995:48:23YTGFLT4:7:2169:23862:15265,LH00995:48:23YTGFLT4:7:2296:50357:11832,LH00995:48:23YTGFLT4:8:2244:50721:16610,LH00995:48:23YTGFLT4:8:2261:41418:2317,LH00995:48:23YTGFLT4:1:1171:9349:11397,LH00995:48:23YTGFLT4:1:2170:2100:16217,LH00995:48:23YTGFLT4:1:2290:11841:9576,LH00995:48:23YTGFLT4:2:2286:43942:7390,LH00995:48:23YTGFLT4:2:2448:16573:17633,LH00995:48:23YTGFLT4:4:1124:31661:6213,LH00995:48:23YTGFLT4:4:1356:23806:1799,LH00995:48:23YTGFLT4:4:1356:23814:1813,LH00995:48:23YTGFLT4:4:2167:17892:22383,LH00995:48:23YTGFLT4:6:2186:21435:7586,LH00995:48:23YTGFLT4:6:2419:28409:1813,LH00995:48:23YTGFLT4:8:1221:21338:17282,LH00995:48:23YTGFLT4:8:2193:9632:12196,LH00995:48:23YTGFLT4:8:2321:29453:24751,LH00995:48:23YTGFLT4:8:2357:22471:10360

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

2951

2248

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)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(5)

GGGCGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTGGAGTCCAGGAAAAGCAGAAGATGCTGAGATGTCATATATGGCGAATTGCACTATTCTAAATGTGTTTTGTTTTAATCTTTCACAGTAAACAAGCTTTCAGAAATGATGGTCACAAGGGGTAGGATATCAAGGAGCAGCCAGTCATTCACCCAATTCCAAC

GRALVVEMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKGHTYIFKNCNLILESRKSRRC*

LH00995:48:23YTGFLT4:2:2157:33433:9533,LH00995:48:23YTGFLT4:3:1107:40139:24232,LH00995:48:23YTGFLT4:3:1239:20545:19412,LH00995:48:23YTGFLT4:4:2287:28708:13513,LH00995:48:23YTGFLT4:6:1121:7108:7572,LH00995:48:23YTGFLT4:6:2380:50810:23602,LH00995:48:23YTGFLT4:7:1402:36766:22789,LH00995:48:23YTGFLT4:1:1465:13540:3466,LH00995:48:23YTGFLT4:2:1314:34185:27287,LH00995:48:23YTGFLT4:2:2221:24898:14396,LH00995:48:23YTGFLT4:8:1415:33740:5610,LH00995:48:23YTGFLT4:8:2370:42081:21514

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

2951

2198

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

duplicates(4)

CCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGCCGCGTGGC

QELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRSGRV

LH00995:48:23YTGFLT4:2:2423:37146:6157,LH00995:48:23YTGFLT4:3:2363:49014:5470,LH00995:48:23YTGFLT4:4:1363:49006:16582,LH00995:48:23YTGFLT4:7:2243:4988:27077,LH00995:48:23YTGFLT4:1:1107:31160:2569,LH00995:48:23YTGFLT4:4:1340:10522:20911

RBM14

RBM4

+/+

chr11:66625678

chr11:66665856

CDS/splice-site

deletion/read-through

719

2248

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)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

GGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAAC

ASYDDPYKKAVAMSKr|qdnpcdrrllll*

LH00995:48:23YTGFLT4:5:1284:42736:28786

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2951

4802

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(258),read_through(342)

AGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAG

RPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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571,LH00995:48:23YTGFLT4:4:1458:38352:26292,LH00995:48:23YTGFLT4:4:1471:43100:14396,LH00995:48:23YTGFLT4:4:1471:43108:14410,LH00995:48:23YTGFLT4:4:1480:31402:24933,LH00995:48:23YTGFLT4:4:1492:39347:8595,LH00995:48:23YTGFLT4:4:2107:20942:29319,LH00995:48:23YTGFLT4:4:2110:22180:19216,LH00995:48:23YTGFLT4:4:2115:36143:8034,LH00995:48:23YTGFLT4:4:2115:38206:16512,LH00995:48:23YTGFLT4:4:2131:36531:15881,LH00995:48:23YTGFLT4:4:2145:19817:1981,LH00995:48:23YTGFLT4:4:2145:40139:21178,LH00995:48:23YTGFLT4:4:2176:5094:21598,LH00995:48:23YTGFLT4:4:2194:30561:3578,LH00995:48:23YTGFLT4:4:2195:48391:29333,LH00995:48:23YTGFLT4:4:2217:3589:8595,LH00995:48:23YTGFLT4:4:2218:37664:15208,LH00995:48:23YTGFLT4:4:2220:40083:26881,LH00995:48:23YTGFLT4:4:2230:51684:19987,LH00995:48:23YTGFLT4:4:2280:46199:16287,LH00995:48:23YTGFLT4:4:2284:12310:19973,LH00995:48:23YTGFLT4:4:2294:24526:25718,LH00995:48:23YTGFLT4:4:2303:43448:18810,LH00995:48:23YTGFLT4:4:2314:18410:6941,LH00995:48:23YTGFLT4:4:2326:42105:6927,LH00995:48:23YTGFLT4:4:2331:12779:6857,LH00995:48:23YTGFLT4:4:2331:12787:6871,LH00995:48:23YTGFLT4:4:2345:17253:16512,LH00995:48:23YTGFLT4:4:2348:10198:7207,LH00995:48:23YTGFLT4:4:2359:24396:16049,LH00995:48:23YTGFLT4:4:2370:12019:16301,LH00995:48:23YTGFLT4:4:2370:45050:27525,LH00995:48:23YTGFLT4:4:2379:26516:11621,LH00995:48:23YTGFLT4:4:2387:36491:28702,LH00995:48:23YTGFLT4:4:2398:38068:2261,LH00995:48:23YTGFLT4:4:2421:33732:28576,LH00995:48:23YTGFLT4:4:2424:38796:11453,LH00995:48:23YTGFLT4:4:2432:20618:3536,LH00995:48:23YTGFLT4:4:2440:49961:11930,LH00995:48:23YTGFLT4:4:2479:13669:15573,LH00995:48:23YTGFLT4:5:1135:45988:27413,LH00995:48:23YTGFLT4:5:1137:40625:12630,LH00995:48:23YTGFLT4:5:1148:24890:18669,LH00995:48:23YTGFLT4:5:1148:24898:18684,LH00995:48:23YTGFLT4:5:1150:37607:10851,LH00995:48:23YTGFLT4:5:1150:37615:10837,LH00995:48:23YTGFLT4:5:1168:5927:6591,LH00995:48:23YTGFLT4:5:1170:12180:25578,LH00995:48:23YTGFLT4:5:1175:12261:16834,LH00995:48:23YTGFLT4:5:1202:26208:22383,LH00995:48:23YTGFLT4:5:1202:26225:22383,LH00995:48:23YTGFLT4:5:1207:13378:14676,LH00995:48:23YTGFLT4:5:1222:17884:7067,LH00995:48:23YTGFLT4:5:1226:16929:19090,LH00995:48:23YTGFLT4:5:1252:37170:10094,LH00995:48:23YTGFLT4:5:1252:37178:10080,LH00995:48:23YTGFLT4:5:1267:42696:2990,LH00995:48:23YTGFLT4:5:1293:47509:10514,LH00995:48:23YTGFLT4:5:1293:47518:10528,LH00995:48:23YTGFLT4:5:1303:26281:29179,LH00995:48:23YTGFLT4:5:1309:49152:26783,LH00995:48:23YTGFLT4:5:1319:6517:6941,LH00995:48:23YTGFLT4:5:1324:38392:25129,LH00995:48:23YTGFLT4:5:1324:43861:26811,LH00995:48:23YTGFLT4:5:1327:24655:23448,LH00995:48:23YTGFLT4:5:1360:32284:5078,LH00995:48:23YTGFLT4:5:1360:32308:5064,LH00995:48:23YTGFLT4:5:1378:14704:20225,LH00995:48:23YTGFLT4:5:1390:30666:21584,LH00995:48:23YTGFLT4:5:1397:41426:11607,LH00995:48:23YTGFLT4:5:1416:6873:13135,LH00995:48:23YTGFLT4:5:1421:21079:18964,LH00995:48:23YTGFLT4:5:1423:41766:28142,LH00995:48:23YTGFLT4:5:1434:49216:21430,LH00995:48:23YTGFLT4:5:1459:28377:14172,LH00995:48:23YTGFLT4:5:1466:33392:8370,LH00995:48:23YTGFLT4:5:1474:42089:18137,LH00995:48:23YTGFLT4:5:1475:16347:6171,LH00995:48:23YTGFLT4:5:1487:24898:20785,LH00995:48:23YTGFLT4:5:2127:4649:14045,LH00995:48:23YTGFLT4:5:2147:4422:15727,LH00995:48:23YTGFLT4:5:2148:23620:27371,LH00995:48:23YTGFLT4:5:2176:14640:25185,LH00995:48:23YTGFLT4:5:2179:25456:10739,LH00995:48:23YTGFLT4:5:2215:1882:7544,LH00995:48:23YTGFLT4:5:2259:34104:24849,LH00995:48:23YTGFLT4:5:2261:27948:11131,LH00995:48:23YTGFLT4:5:2275:17649:16414,LH00995:48:23YTGFLT4:5:2278:2294:3410,LH00995:48:23YTGFLT4:5:2297:4673:28156,LH00995:48:23YTGFLT4:5:2306:21913:10262,LH00995:48:23YTGFLT4:5:2329:45738:26502,LH00995:48:23YTGFLT4:5:2343:25521:21780,LH00995:48:23YTGFLT4:5:2343:25529:21766

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

4802

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(3),read_through(3)

TCCACTTCCCCACTTCCTCTCCAGACGTCGGTCAGAGCAAGGGAAGAGGGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACGTGGAAGCCAG

LH00995:48:23YTGFLT4:8:2387:50317:7306,LH00995:48:23YTGFLT4:8:2387:50333:7306,LH00995:48:23YTGFLT4:1:2397:31758:3410,LH00995:48:23YTGFLT4:3:2489:28385:9954,LH00995:48:23YTGFLT4:6:1336:31378:24134,LH00995:48:23YTGFLT4:7:1394:51498:5988

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

719

4802

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

read_through(1)

GCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGC

ASYDDPYKKAVAMSKr|llsgw*

LH00995:48:23YTGFLT4:4:2168:38101:6016

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

473

774

medium

out-of-frame

Rad51(100%)|Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(6)

GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTC

VTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapsl

LH00995:48:23YTGFLT4:1:1287:50414:7025,LH00995:48:23YTGFLT4:1:2262:21961:12952,LH00995:48:23YTGFLT4:2:1157:19785:5792,LH00995:48:23YTGFLT4:2:1405:21977:15222,LH00995:48:23YTGFLT4:3:2282:32834:10963,LH00995:48:23YTGFLT4:4:1261:35318:27259,LH00995:48:23YTGFLT4:5:1415:28563:10711,LH00995:48:23YTGFLT4:5:2165:24396:26727,LH00995:48:23YTGFLT4:8:2152:41410:4293,LH00995:48:23YTGFLT4:1:1228:21767:2415,LH00995:48:23YTGFLT4:1:1263:41725:2878,LH00995:48:23YTGFLT4:1:1381:9915:17506,LH00995:48:23YTGFLT4:2:2325:25513:13723,LH00995:48:23YTGFLT4:3:1432:37162:13611,LH00995:48:23YTGFLT4:3:1432:37178:13583,LH00995:48:23YTGFLT4:3:1432:37178:13611,LH00995:48:23YTGFLT4:4:1319:23854:15194,LH00995:48:23YTGFLT4:4:2461:38788:26797,LH00995:48:23YTGFLT4:5:1262:36920:6941,LH00995:48:23YTGFLT4:5:1374:49718:3298,LH00995:48:23YTGFLT4:5:2113:41070:29347,LH00995:48:23YTGFLT4:7:1103:23773:19819,LH00995:48:23YTGFLT4:8:2160:5563:24737

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

215

730

medium

in-frame

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

ENSG00000250120.8

ENSG00000248383.5

ENST00000562220.2

ENST00000253807.3

downstream

upstream

duplicates(27),low_entropy(1),mismappers(3)

GGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGC

GEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

LH00995:48:23YTGFLT4:1:1177:8855:24723,LH00995:48:23YTGFLT4:1:1177:8863:24737,LH00995:48:23YTGFLT4:1:2224:39743:10178,LH00995:48:23YTGFLT4:2:1170:14793:2583,LH00995:48:23YTGFLT4:2:1194:12083:20309,LH00995:48:23YTGFLT4:2:1194:12099:20309,LH00995:48:23YTGFLT4:2:1345:42113:16105,LH00995:48:23YTGFLT4:2:2155:23798:12378,LH00995:48:23YTGFLT4:2:2408:4794:22593,LH00995:48:23YTGFLT4:3:1325:14195:18081,LH00995:48:23YTGFLT4:4:1129:19688:24176,LH00995:48:23YTGFLT4:4:1204:31920:16498,LH00995:48:23YTGFLT4:4:1301:43650:16273,LH00995:48:23YTGFLT4:4:2149:23296:8819,LH00995:48:23YTGFLT4:4:2357:33603:12602,LH00995:48:23YTGFLT4:4:2482:14357:9590,LH00995:48:23YTGFLT4:5:1334:18296:21626,LH00995:48:23YTGFLT4:6:2164:45746:3985,LH00995:48:23YTGFLT4:6:2205:12302:10682,LH00995:48:23YTGFLT4:7:2139:28166:20421,LH00995:48:23YTGFLT4:7:2335:30245:14017,LH00995:48:23YTGFLT4:7:2475:2343:19720,LH00995:48:23YTGFLT4:8:1255:23879:8735,LH00995:48:23YTGFLT4:8:1466:26516:18039,LH00995:48:23YTGFLT4:8:2276:35738:25690,LH00995:48:23YTGFLT4:1:1387:20715:15811,LH00995:48:23YTGFLT4:1:2410:7343:16077,LH00995:48:23YTGFLT4:1:2410:7359:16077,LH00995:48:23YTGFLT4:2:2386:30634:10598,LH00995:48:23YTGFLT4:2:2397:37583:7530,LH00995:48:23YTGFLT4:3:1294:13879:26727,LH00995:48:23YTGFLT4:3:1406:24615:15839,LH00995:48:23YTGFLT4:3:2124:12722:9926,LH00995:48:23YTGFLT4:3:2151:49969:7263,LH00995:48:23YTGFLT4:4:1315:45940:4713,LH00995:48:23YTGFLT4:4:1463:45705:27315,LH00995:48:23YTGFLT4:4:1463:45713:27301,LH00995:48:23YTGFLT4:4:2115:28757:23910,LH00995:48:23YTGFLT4:4:2202:25505:18025,LH00995:48:23YTGFLT4:4:2404:4649:3704,LH00995:48:23YTGFLT4:4:2404:4657:3690,LH00995:48:23YTGFLT4:5:1421:37931:24695,LH00995:48:23YTGFLT4:6:1293:29744:24863,LH00995:48:23YTGFLT4:6:1341:6655:13877,LH00995:48:23YTGFLT4:6:2208:44249:7137,LH00995:48:23YTGFLT4:7:1311:47655:16063,LH00995:48:23YTGFLT4:7:1473:28239:2555,LH00995:48:23YTGFLT4:8:2301:19761:2976

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

215

730

medium

in-frame

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

ENSG00000250120.8

ENSG00000243232.6

ENST00000562220.2

ENST00000289269.7

downstream

upstream

duplicates(27),low_entropy(1),mismappers(3)

GEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

215

730

medium

in-frame

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

ENSG00000250120.8

ENSG00000239389.8

ENST00000562220.2

ENST00000289272.3

downstream

upstream

duplicates(27),low_entropy(1),mismappers(3)

GEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000081842.18

ENSG00000248383.5

ENST00000378126.4

ENST00000253807.3

downstream

upstream

duplicates(13),mismatches(2)

GAGGGTGTGCTCCGGGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAG

RVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

LH00995:48:23YTGFLT4:2:1203:41539:23686,LH00995:48:23YTGFLT4:2:2241:27924:19328,LH00995:48:23YTGFLT4:3:1337:38206:29711,LH00995:48:23YTGFLT4:4:2186:17018:22411,LH00995:48:23YTGFLT4:4:2257:45042:20701,LH00995:48:23YTGFLT4:4:2308:44961:2990,LH00995:48:23YTGFLT4:5:2109:20950:11229,LH00995:48:23YTGFLT4:6:1332:37874:15769,LH00995:48:23YTGFLT4:6:2391:42453:20813,LH00995:48:23YTGFLT4:6:2471:13790:23826,LH00995:48:23YTGFLT4:1:1163:29970:23350,LH00995:48:23YTGFLT4:1:2235:17140:22173,LH00995:48:23YTGFLT4:1:2237:46296:24639,LH00995:48:23YTGFLT4:1:2443:14818:4391,LH00995:48:23YTGFLT4:2:1491:37623:19566,LH00995:48:23YTGFLT4:2:2278:5814:19510,LH00995:48:23YTGFLT4:2:2375:5458:4433,LH00995:48:23YTGFLT4:2:2375:5466:4419,LH00995:48:23YTGFLT4:2:2426:37203:13093,LH00995:48:23YTGFLT4:3:1243:34282:14900,LH00995:48:23YTGFLT4:3:2225:28854:10458,LH00995:48:23YTGFLT4:4:1143:40924:13037,LH00995:48:23YTGFLT4:4:1182:17811:16750,LH00995:48:23YTGFLT4:4:1262:45527:15377,LH00995:48:23YTGFLT4:4:1262:45535:15391,LH00995:48:23YTGFLT4:4:2123:39015:2892,LH00995:48:23YTGFLT4:5:2442:16994:23826,LH00995:48:23YTGFLT4:7:1408:34323:15867,LH00995:48:23YTGFLT4:7:2416:49750:17394,LH00995:48:23YTGFLT4:8:2179:6655:2555

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000081842.18

ENSG00000243232.6

ENST00000378126.4

ENST00000289269.7

downstream

upstream

duplicates(13),mismatches(2)

RVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000081842.18

ENSG00000239389.8

ENST00000378126.4

ENST00000289272.3

downstream

upstream

duplicates(13),mismatches(2)

RVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

1754

213

medium

stop-codon

emp24/gp25L/p24_family/GOLD(86%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(20),low_entropy(1),mismappers(1)

CTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGAAAGCAGGAGGGAGCTCAGAGCGTGGAAGAGATGTTTGAAGAAGAAGCTGAAGAAGAGGTGTTCCTC

LH00995:48:23YTGFLT4:1:1191:33085:16610,LH00995:48:23YTGFLT4:1:1191:33093:16624,LH00995:48:23YTGFLT4:2:2366:47873:28268,LH00995:48:23YTGFLT4:2:2367:17309:20281,LH00995:48:23YTGFLT4:3:1184:18256:2191,LH00995:48:23YTGFLT4:4:2168:48682:28240,LH00995:48:23YTGFLT4:4:2454:38408:26586,LH00995:48:23YTGFLT4:5:1197:49702:17647,LH00995:48:23YTGFLT4:5:1197:49710:17633,LH00995:48:23YTGFLT4:5:2441:26055:24751,LH00995:48:23YTGFLT4:6:1248:46021:22341,LH00995:48:23YTGFLT4:6:2406:51215:28674,LH00995:48:23YTGFLT4:7:2134:4527:29417,LH00995:48:23YTGFLT4:7:2147:28207:6283,LH00995:48:23YTGFLT4:8:1325:7156:2695,LH00995:48:23YTGFLT4:8:2187:2658:13793,LH00995:48:23YTGFLT4:8:2213:44370:9842,LH00995:48:23YTGFLT4:8:2316:35043:28660,LH00995:48:23YTGFLT4:8:2347:15813:20491,LH00995:48:23YTGFLT4:1:1323:30456:18978,LH00995:48:23YTGFLT4:4:1131:2642:9562,LH00995:48:23YTGFLT4:4:1131:2650:9547,LH00995:48:23YTGFLT4:4:1157:36119:5750,LH00995:48:23YTGFLT4:4:1157:36151:5750,LH00995:48:23YTGFLT4:4:2218:27236:8469,LH00995:48:23YTGFLT4:6:2422:12957:18992,LH00995:48:23YTGFLT4:6:2422:12965:19006,LH00995:48:23YTGFLT4:6:2485:39929:6941,LH00995:48:23YTGFLT4:8:1250:35779:4349,LH00995:48:23YTGFLT4:8:1250:35795:4349,LH00995:48:23YTGFLT4:8:2498:24752:9435,LH00995:48:23YTGFLT4:6:2364:9163:25816,LH00995:48:23YTGFLT4:6:2364:9171:25802,LH00995:48:23YTGFLT4:6:2364:9179:25788,LH00995:48:23YTGFLT4:6:2364:9195:25788,LH00995:48:23YTGFLT4:6:2364:9203:25774,LH00995:48:23YTGFLT4:7:2147:28190:6283

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1889

213

low

out-of-frame

emp24/gp25L/p24_family/GOLD(62%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(7)

CCTTCACAGCCTCCAAAAATGGGACATACAAATTTTGCTTCAGCAATGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGC

FTASKNGTYKFCFSNEFSTFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:48:23YTGFLT4:1:1224:32519:21094,LH00995:48:23YTGFLT4:1:1224:32527:21080,LH00995:48:23YTGFLT4:2:2285:38675:15166,LH00995:48:23YTGFLT4:2:2463:29922:5274,LH00995:48:23YTGFLT4:4:1335:18652:3354,LH00995:48:23YTGFLT4:5:2120:7642:22957,LH00995:48:23YTGFLT4:6:1113:13442:2822,LH00995:48:23YTGFLT4:6:1393:48060:12112,LH00995:48:23YTGFLT4:7:1368:51878:5694,LH00995:48:23YTGFLT4:6:2364:9163:25816,LH00995:48:23YTGFLT4:6:2364:9171:25802,LH00995:48:23YTGFLT4:6:2364:9179:25788,LH00995:48:23YTGFLT4:6:2364:9195:25788,LH00995:48:23YTGFLT4:6:2364:9203:25774

L1TD1

+/+

chr1:62206726

chr1:62206721

CDS

duplication/ITD

medium

in-frame

|L1_transposable_element_RBD-like_domain(100%),L1_transposable_element_dsRBD-like_domain(100%)

ENSG00000240563.2

ENST00000498273.2

downstream

upstream

duplicates(2)

AAAAACAGAATCCAGTCTTGACAACATATCCACAATGTCTGATGTATCTACTAGTGTACAATCAAAATTTGCTAGACTTGCAAAGAAAAAGGAAAATATCACCTATATGAAAAGAGAGCAGTTAACAGAAAC|AGAAACTGATAAGGACATAGCTCCGGTATTAGATTTAAAATGCAAGGACGTATCAGCAATTATGAATAAGTTTAAGGTCTTAATGGAAATTCAAGACCTGATGTTTGAGGAGATGAGGGAAACTCTTAAAAATGACCTAAAAGCAGTTTTAGG

MSDVSTSVQSKFARLAKKKENITYMKREQLTEt|ETDKDIAPVLDLKCKDVSAIMNKFKVLMEIQDLMFEEMRETLKNDLKAVL

LH00995:48:23YTGFLT4:2:1158:11930:28590,LH00995:48:23YTGFLT4:3:1469:2828:7081,LH00995:48:23YTGFLT4:3:2289:44840:16315,LH00995:48:23YTGFLT4:4:1242:40512:6437,LH00995:48:23YTGFLT4:4:2298:9082:23574,LH00995:48:23YTGFLT4:4:2298:9090:23560,LH00995:48:23YTGFLT4:6:2350:48674:26516,LH00995:48:23YTGFLT4:8:2198:45584:26685,LH00995:48:23YTGFLT4:8:2347:49847:13107,LH00995:48:23YTGFLT4:1:1458:1558:29319,LH00995:48:23YTGFLT4:1:2108:20481:9576,LH00995:48:23YTGFLT4:2:1357:23078:15279,LH00995:48:23YTGFLT4:4:1490:3330:23055,LH00995:48:23YTGFLT4:4:2367:17051:11481,LH00995:48:23YTGFLT4:6:1208:13467:11747,LH00995:48:23YTGFLT4:6:2403:42316:6143,LH00995:48:23YTGFLT4:8:2484:26354:8623

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

486

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(5),mismatches(1)

GGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGG

LH00995:48:23YTGFLT4:1:2493:44047:16512,LH00995:48:23YTGFLT4:2:1192:45066:4881,LH00995:48:23YTGFLT4:2:2139:28797:11117,LH00995:48:23YTGFLT4:2:2151:34120:15461,LH00995:48:23YTGFLT4:3:1205:12334:2555,LH00995:48:23YTGFLT4:4:1325:43885:4573,LH00995:48:23YTGFLT4:4:1415:10490:6787,LH00995:48:23YTGFLT4:4:2244:48569:15180,LH00995:48:23YTGFLT4:5:2334:34986:3088,LH00995:48:23YTGFLT4:7:1388:38716:14872,LH00995:48:23YTGFLT4:1:1353:24315:3410,LH00995:48:23YTGFLT4:1:1353:24323:3424,LH00995:48:23YTGFLT4:1:1353:24332:3410,LH00995:48:23YTGFLT4:2:1111:35277:25844,LH00995:48:23YTGFLT4:3:1288:8588:29109,LH00995:48:23YTGFLT4:4:1329:44209:3564,LH00995:48:23YTGFLT4:4:2280:34743:3592,LH00995:48:23YTGFLT4:4:2316:45867:11817,LH00995:48:23YTGFLT4:8:1298:7965:14186,LH00995:48:23YTGFLT4:8:1433:43165:5848

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

486

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(10)

CAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAGG

LH00995:48:23YTGFLT4:1:1189:8354:23658,LH00995:48:23YTGFLT4:1:2240:32187:15391,LH00995:48:23YTGFLT4:1:2240:33756:20603,LH00995:48:23YTGFLT4:2:2321:18855:20127,LH00995:48:23YTGFLT4:3:2121:47024:26909,LH00995:48:23YTGFLT4:3:2447:9406:27609,LH00995:48:23YTGFLT4:4:2387:26249:14045,LH00995:48:23YTGFLT4:5:2134:15198:6395,LH00995:48:23YTGFLT4:6:2142:1081:2653,LH00995:48:23YTGFLT4:6:2234:10910:15026,LH00995:48:23YTGFLT4:6:2373:12213:8174,LH00995:48:23YTGFLT4:7:1111:35957:13541,LH00995:48:23YTGFLT4:7:1424:34646:21892,LH00995:48:23YTGFLT4:7:2190:14446:20029,LH00995:48:23YTGFLT4:7:2251:12844:13219,LH00995:48:23YTGFLT4:7:2251:12852:13233,LH00995:48:23YTGFLT4:8:1308:38910:27623,LH00995:48:23YTGFLT4:8:2262:48674:1827

AC092807.3

DDAH1

-/-

chr1:85575832

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

486

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000467666.2

ENST00000284031.13

upstream

downstream

duplicates(1)

TTTCTATCTAAATGAAGAAATGGAGGCATGGAAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTT

LH00995:48:23YTGFLT4:5:2454:23636:19776,LH00995:48:23YTGFLT4:8:2159:51692:29501

IKZF2

LINC01953

-/-

chr2:213147708

chr2:213159281

CDS/splice-site

intron

duplication

2364

medium

out-of-frame

ENSG00000030419.16

ENSG00000236193.3

ENST00000452786.2

upstream

downstream

duplicates(9),mismatches(1)

GTCACCTCACCGCTCCAAGCCTCCAGCCGGCAGAAAAC___CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAaCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA|GAAAATCACATGGAGAGTGAAAATATCAGAAAGTCGCTAATGTTGGGCTTAGAACTGATCAAAGAGTTTTGTGTACGATAGACTGCCTAATGGTACCAGGCCTGACAGCCTGCAGTGTCCCCCT

METEAIDGYITCDNELSPEREHSNMAIDLTSSTPNGQHASPSHMTS|rkshge*

LH00995:48:23YTGFLT4:2:1272:5215:15391,LH00995:48:23YTGFLT4:2:1272:5223:15405,LH00995:48:23YTGFLT4:3:2356:3597:11467,LH00995:48:23YTGFLT4:3:2498:31629:27735,LH00995:48:23YTGFLT4:6:2273:29064:2639,LH00995:48:23YTGFLT4:6:2294:11784:22145,LH00995:48:23YTGFLT4:6:2458:43335:10038,LH00995:48:23YTGFLT4:7:1482:22867:9029,LH00995:48:23YTGFLT4:7:1491:1874:16217,LH00995:48:23YTGFLT4:7:2113:28959:11677,LH00995:48:23YTGFLT4:8:2482:26273:12210,LH00995:48:23YTGFLT4:8:2485:40293:12280,LH00995:48:23YTGFLT4:8:2485:40301:12294,LH00995:48:23YTGFLT4:1:2281:8766:17366,LH00995:48:23YTGFLT4:3:1393:44824:2780,LH00995:48:23YTGFLT4:3:2291:37009:1322,LH00995:48:23YTGFLT4:3:2391:32098:1925,LH00995:48:23YTGFLT4:5:1245:43254:19370,LH00995:48:23YTGFLT4:5:1245:43262:19356,LH00995:48:23YTGFLT4:5:1308:18199:3158,LH00995:48:23YTGFLT4:6:1219:19291:29095,LH00995:48:23YTGFLT4:8:2465:31734:10598

KIF20B

+/+

chr10:89738144

chr10:89738139

CDS

duplication/ITD

medium

in-frame

Kinesin_motor_domain(100%)|

ENSG00000138182.15

ENST00000371728.8

downstream

upstream

duplicates(5)

AGAGATTGTGAAGGCCTCTTCCAAAAAAAGTCATCAGATTGAGGAACTGGAACAACAAATTGAAAAATTGCAGGCAGAAGTAAAAGGCTATAAGGATGAAAACAATAGA|cta|AaAgTAAAGGAGAAGGAGCATAAAAACCAAGATGACCTACTAAAAGAAAAAGAAACTCTTATACAGCAGCTGAAAGAAGAATTGCAAGAAAAAAATGTTACTCTTGATGTTCAAATACAGCATGTAGTTGAAGGAAAGAGAGCGCTTTCAGAACTTACACAAGGTGTTACTTGC

EIVKASSKKSHQIEELEQQIEKLQAEVKGYKDENNR|l|kvKEKEHKNQDDLLKEKETLIQQLKEELQEKNVTLDVQIQHVVEGKRALSELTQGVT

LH00995:48:23YTGFLT4:2:2415:28029:29039,LH00995:48:23YTGFLT4:4:1318:22212:11705,LH00995:48:23YTGFLT4:5:1326:38165:10584,LH00995:48:23YTGFLT4:5:1326:38174:10598,LH00995:48:23YTGFLT4:5:2415:4802:28941,LH00995:48:23YTGFLT4:1:1266:7771:13765,LH00995:48:23YTGFLT4:1:2271:40528:16498,LH00995:48:23YTGFLT4:2:1129:12650:10472,LH00995:48:23YTGFLT4:2:1275:46191:5596,LH00995:48:23YTGFLT4:2:1275:46207:5596,LH00995:48:23YTGFLT4:3:1474:30375:25620,LH00995:48:23YTGFLT4:6:1196:10643:12042,LH00995:48:23YTGFLT4:6:2213:15384:23336,LH00995:48:23YTGFLT4:7:2286:33020:17563,LH00995:48:23YTGFLT4:7:2373:20052:11635

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

2214

272

medium

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(3),mismatches(1)

ACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCCA

LH00995:48:23YTGFLT4:1:1240:51449:27147,LH00995:48:23YTGFLT4:1:1240:51457:27161,LH00995:48:23YTGFLT4:1:1414:22430:19286,LH00995:48:23YTGFLT4:2:2315:20869:26082,LH00995:48:23YTGFLT4:5:1248:23086:7418,LH00995:48:23YTGFLT4:5:1248:23094:7432,LH00995:48:23YTGFLT4:5:1478:28490:13919,LH00995:48:23YTGFLT4:7:2204:30334:5008,LH00995:48:23YTGFLT4:4:2340:16258:8427,LH00995:48:23YTGFLT4:5:2284:8718:11425,LH00995:48:23YTGFLT4:8:2306:43044:11803

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

2214

316

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(1),mismatches(2)

GTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAG

LH00995:48:23YTGFLT4:4:2353:36062:10500,LH00995:48:23YTGFLT4:7:2241:26362:11832,LH00995:48:23YTGFLT4:7:2241:26378:11832

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77241691

exon/splice-site

CDS/splice-site

deletion

2214

255

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

mismatches(1)

GGAATTTCAAAGGAATATTAAGAAG|CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCCAG

LH00995:48:23YTGFLT4:8:1284:47639:19538

PMS2P8

CCDC146

+/+

chr7:73044560

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

892

316

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(5),multimappers(2)

ATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCC

LH00995:48:23YTGFLT4:2:2265:20578:7193,LH00995:48:23YTGFLT4:2:2265:20578:7193,LH00995:48:23YTGFLT4:6:2174:51417:12238,LH00995:48:23YTGFLT4:6:2174:51417:12238,LH00995:48:23YTGFLT4:3:1107:34420:1855,LH00995:48:23YTGFLT4:8:1245:27778:12182,LH00995:48:23YTGFLT4:8:1245:27794:12182

PMS2P8

CCDC146

+/+

chr7:73044560

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

892

272

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(4),multimappers(2)

AGAAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGC

LH00995:48:23YTGFLT4:4:1291:14567:24555,LH00995:48:23YTGFLT4:1:1417:36709:4223,LH00995:48:23YTGFLT4:1:2155:5894:25732,LH00995:48:23YTGFLT4:3:1496:27228:24344,LH00995:48:23YTGFLT4:4:1383:3831:17338,LH00995:48:23YTGFLT4:4:2256:43375:29165

AC009166.3(5996),SOD1P2(5623)

CANX

./+

+/+

chr16:51101948

chr5:179726683

intergenic

CDS/splice-site

translocation

17935

medium

|Calreticulin_family(0%)

ENSG00000127022.16

ENST00000680406.1

downstream

upstream

duplicates(2),mismatches(1)

GAGAGAGAGAGAGAGAAACTTGAAG|AGAAACAGAAAAGTGATGCTGAAGAAGATGGTGGCACTGTCAGTCAAGAGGAGGAAGACAGAAAACCTAAAGCAGAG...___CCACGAAGAGAGTGAAACAATCTTAAGAGCTTGATCTGTGATTTCTTCTCCCTCCTCCCCTGCAAGAGTGGTCCTAGGAGAGGACCTGGCACACCTTAGGTTGACAT

LH00995:48:23YTGFLT4:3:1123:49419:17100,LH00995:48:23YTGFLT4:3:2412:48804:3676,LH00995:48:23YTGFLT4:4:1314:2060:7263,LH00995:48:23YTGFLT4:5:2414:24639:13863,LH00995:48:23YTGFLT4:6:1224:40042:15096,LH00995:48:23YTGFLT4:7:2233:47542:18726,LH00995:48:23YTGFLT4:8:2290:31176:7670

BOLA2B

SMG1

-/-

chr16:30193361

chr16:18879720

CDS

intron

deletion

4471

584

medium

in-frame

BolA-like_protein(60%)|FATC_domain(100%),Phosphatidylinositol_3-_and_4-kinase(100%),Serine/threonine-protein_kinase_smg-1(100%)

ENSG00000169627.9

ENSG00000157106.17

ENST00000305321.4

ENST00000446231.7

upstream

downstream

duplicates(4)

CGGGACCTGGAGGCGGAGCATGTG___...GGTGGAGGACACGACCCTCAACCGTTGCTCCTGTAGCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACA|GGTTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAGGTGTTTTTTTCTGAGGCTGTGTTGACAGCTGCTAATGAGTGTGTTGGTGTTTTGCTCGGCAGCTTGGATCCTAGCATGACTATACATT

VEDTTLNRCSCSFRVLVVSAKFEGKPLLQRq|VLYRVMRCVTAANQVFFSEAVLTAANECVGVLLGSLDPSMTIH

LH00995:48:23YTGFLT4:6:2154:37785:25816,LH00995:48:23YTGFLT4:1:1270:41757:3382,LH00995:48:23YTGFLT4:2:1393:10352:3382,LH00995:48:23YTGFLT4:3:1293:50948:19468,LH00995:48:23YTGFLT4:3:1421:42963:15054,LH00995:48:23YTGFLT4:3:2480:20586:2583,LH00995:48:23YTGFLT4:4:1120:29817:5316,LH00995:48:23YTGFLT4:5:1339:45511:13219,LH00995:48:23YTGFLT4:5:2378:35099:8384,LH00995:48:23YTGFLT4:7:2483:44508:3270

BOLA2B

SMG1

-/-

chr16:30193358

chr16:18879719

CDS/splice-site

deletion

4248

584

low

out-of-frame

BolA-like_protein(62%)|FATC_domain(100%),Phosphatidylinositol_3-_and_4-kinase(100%),Serine/threonine-protein_kinase_smg-1(100%)

ENSG00000169627.9

ENSG00000157106.17

ENST00000305321.4

ENST00000446231.7

upstream

downstream

duplicates(5),mismatches(1),multimappers(1)

GCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACACAG|GTTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAG

FRVLVVSAKFEGKPLLQRHr|fcte*

LH00995:48:23YTGFLT4:2:1367:46806:5792,LH00995:48:23YTGFLT4:2:2177:25917:2233,LH00995:48:23YTGFLT4:3:1443:5700:10150,LH00995:48:23YTGFLT4:3:2443:28279:27679,LH00995:48:23YTGFLT4:6:1424:3225:4097,LH00995:48:23YTGFLT4:7:1351:51829:7235,LH00995:48:23YTGFLT4:7:1351:51838:7221

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000255408.4

ENSG00000248383.5

ENST00000532566.3

ENST00000253807.3

downstream

upstream

duplicates(11)

GGGCAAGCCCACGCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCAGCAGAGGGTGTaCTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTG

GKPTLVCSSAVGSWSYSQQRQQRVySGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGE

LH00995:48:23YTGFLT4:4:2204:11622:16231,LH00995:48:23YTGFLT4:5:1425:47429:3816,LH00995:48:23YTGFLT4:5:1425:47437:3802,LH00995:48:23YTGFLT4:5:1425:47445:3816,LH00995:48:23YTGFLT4:8:1470:7610:1322,LH00995:48:23YTGFLT4:8:2410:5846:19790,LH00995:48:23YTGFLT4:8:2410:5854:19776,LH00995:48:23YTGFLT4:1:2426:32211:15909,LH00995:48:23YTGFLT4:3:2248:38222:20491,LH00995:48:23YTGFLT4:4:1367:31621:21192,LH00995:48:23YTGFLT4:5:1275:12010:1827,LH00995:48:23YTGFLT4:6:1353:10902:1757,LH00995:48:23YTGFLT4:6:2279:7739:6731,LH00995:48:23YTGFLT4:6:2279:7747:6717,LH00995:48:23YTGFLT4:7:2256:45503:22565,LH00995:48:23YTGFLT4:8:2121:38441:1869,LH00995:48:23YTGFLT4:8:2390:14316:14200

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000255408.4

ENSG00000243232.6

ENST00000532566.3

ENST00000289269.7

downstream

upstream

duplicates(11)

GKPTLVCSSAVGSWSYSQQRQQRVySGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGE

AC092666.2

ACTR3B

-/-

+/+

chr7:150047609

chr7:152783187

exon

CDS/splice-site

inversion

116

476

medium

|Actin(97%)

ENSG00000276538.1

ENSG00000133627.18

ENST00000613287.1

ENST00000256001.13

upstream

duplicates(8)

GCCGGCCCCGGTTCCAGTACCAGGCGCGGAGCGATGGTGACAAGGAGGAC|GTATACCAAGCTTGGCTACGCAGGCAACACTGAGCCCCAGTTCATTATTCCTTCATGTA

LH00995:48:23YTGFLT4:1:1162:34387:19622,LH00995:48:23YTGFLT4:1:1292:27721:8272,LH00995:48:23YTGFLT4:2:2415:41992:15363,LH00995:48:23YTGFLT4:2:2471:37874:24709,LH00995:48:23YTGFLT4:3:1141:44411:11033,LH00995:48:23YTGFLT4:3:1301:50050:22649,LH00995:48:23YTGFLT4:4:1247:50365:27567,LH00995:48:23YTGFLT4:4:2461:23110:5862,LH00995:48:23YTGFLT4:7:1133:37583:2345,LH00995:48:23YTGFLT4:7:1253:51174:25914,LH00995:48:23YTGFLT4:8:1128:21694:26082,LH00995:48:23YTGFLT4:8:1205:27689:25479,LH00995:48:23YTGFLT4:8:1216:7318:17240,LH00995:48:23YTGFLT4:8:2431:28789:16175

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

730

medium

in-frame

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

ENSG00000255408.4

ENSG00000239389.8

ENST00000532566.3

ENST00000289272.3

downstream

upstream

duplicates(11)

GKPTLVCSSAVGSWSYSQQRQQRVySGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGE

POLR2J

AC139887.5

-/-

-/+

chr7:102474361

chr4:846243

CDS/splice-site

exon

translocation/5'-5'

3775

medium

out-of-frame

RNA_polymerase_Rpb3/Rpb11_dimerisation_domain(100%)|

ENSG00000005075.15

ENSG00000286205.1

ENST00000292614.9

upstream

duplicates(5)

CCCCACCCCTTGGAGCACAAGATCATCATCCGAGTGCAGACCACGCCGGACTACAGCCCCCAGGAAGCCTTTACCAACGCCATCACCGACCTCATCAGTGAGCTGTCCCTGCTGGAGGAGCGCTTTCGG|ACGTGCCTGCTTCCCCTTCGCCTTCCGC

PHPLEHKIIIRVQTTPDYSPQEAFTNAITDLISELSLLEERFR|tcllplrlp

LH00995:48:23YTGFLT4:1:2394:7925:11986,LH00995:48:23YTGFLT4:1:2484:16379:8132,LH00995:48:23YTGFLT4:2:2148:14324:19734,LH00995:48:23YTGFLT4:3:2454:3492:6521,LH00995:48:23YTGFLT4:4:2122:11113:13751,LH00995:48:23YTGFLT4:4:2291:50737:24793,LH00995:48:23YTGFLT4:4:2321:12132:6185,LH00995:48:23YTGFLT4:6:1279:48658:28394,LH00995:48:23YTGFLT4:6:2436:22439:28520,LH00995:48:23YTGFLT4:7:2231:11566:28548

SLFN11

SLFN12

-/-

chr17:35353336

chr17:35433062

CDS/splice-site

5'UTR

duplication

1189

medium

out-of-frame

Putative_DNA-binding_domain(100%),Schlafen_group_3__DNA/RNA_helicase_domain(56%)|Putative_DNA-binding_domain(100%)

ENSG00000172716.16

ENSG00000172123.13

ENST00000394566.5

ENST00000452764.3

upstream

downstream

duplicates(3),mismatches(2)

CCACGGCTTACCTGGCTCAGGGAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACGTTTGTGAAAACCAGCCTCTGAGGAACTTTATCAG|AAAATACACATGGGTGAAAAAGAAACGAGAGCTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGTTGCTCAAGGGTCCACGCTGGC

HGLPGSGKTIMAMKIMEKIRNVFHCEAHRILYVCENQPLRNFIr|kytwvkkkrelprdhselfswvfnfqllkgprw

LH00995:48:23YTGFLT4:1:1194:37381:2724,LH00995:48:23YTGFLT4:2:2185:49847:19384,LH00995:48:23YTGFLT4:3:2460:7003:27483,LH00995:48:23YTGFLT4:4:2332:7051:12602,LH00995:48:23YTGFLT4:5:2316:15821:13359,LH00995:48:23YTGFLT4:6:2169:47073:11327,LH00995:48:23YTGFLT4:7:2352:1154:27834,LH00995:48:23YTGFLT4:7:1136:30998:19748,LH00995:48:23YTGFLT4:7:1136:31006:19762,LH00995:48:23YTGFLT4:8:2368:7723:1126

FSIP1

AC013652.1

-/-

chr15:39600845

chr15:39071608

3'UTR/splice-site

exon/splice-site

deletion

563

medium

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000560484.1

upstream

downstream

duplicates(2)

ACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAAtTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAGGT

LH00995:48:23YTGFLT4:1:1310:31960:20911,LH00995:48:23YTGFLT4:5:1151:18806:2247,LH00995:48:23YTGFLT4:5:1277:25472:12560,LH00995:48:23YTGFLT4:5:2313:46037:17352,LH00995:48:23YTGFLT4:6:1137:30059:8903,LH00995:48:23YTGFLT4:6:2290:7165:24401

FSIP1

AC013652.1

-/-

chr15:39594055

chr15:39071608

3'UTR/splice-site

exon/splice-site

deletion

505

low

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000560484.1

upstream

downstream

ACGCCATCTGTAGGCGGTGAAATCTTTCCAGCCTATGTGACGAGGGTCATGCCACAGGGTGCGCACCTGAAGGAAAAGGAAAAGGAAAGGTTGAAACACAGCTCCTTCAG|ACATCTTCTGTAACCAGAAGCACTCCAAG

LH00995:48:23YTGFLT4:1:2313:30852:11397

FSIP1

AC013652.1

-/-

chr15:39600845

chr15:39109798

3'UTR/splice-site

exon/splice-site

deletion

563

low

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000647271.1

upstream

downstream

CTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|AAAAATCTTCATGGAGTGGCAAAAGTTGT

LH00995:48:23YTGFLT4:7:1135:34517:28422

TLK2

AL669831.1

+/+

-/-

chr17:62560126

chr1:774280

CDS/splice-site

exon/splice-site

translocation

1447

1301

medium

ENSG00000146872.18

ENSG00000228327.3

ENST00000578697.1

ENST00000506640.2

downstream

duplicates(4),mismatches(2),multimappers(2)

GACAGACCCAG___GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGaAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAGAATTCT

LH00995:48:23YTGFLT4:2:1263:3023:1785,LH00995:48:23YTGFLT4:4:1341:9114:1799,LH00995:48:23YTGFLT4:6:1134:14171:12238,LH00995:48:23YTGFLT4:6:1237:40091:28520,LH00995:48:23YTGFLT4:7:2202:39112:17997,LH00995:48:23YTGFLT4:7:2202:39128:17997,LH00995:48:23YTGFLT4:1:2313:38740:5806,LH00995:48:23YTGFLT4:1:2369:18070:3494,LH00995:48:23YTGFLT4:1:2369:18078:3480,LH00995:48:23YTGFLT4:5:1343:19712:13905,LH00995:48:23YTGFLT4:5:2326:35892:10430,LH00995:48:23YTGFLT4:8:2329:39978:7726

SDHDP6

TEX12

-/-

+/+

chr1:25294330

chr11:112170419

exon

CDS/splice-site

translocation

386

122

medium

|Testis-expressed_12(100%)

ENSG00000224183.1

ENSG00000150783.10

ENST00000414693.1

ENST00000280358.5

upstream

duplicates(4),mismatches(1)

GGACTATTCCCTGGCTGCAGCCCTCACTCTTCATGGTCACTG|TCTCCAGTGCCAGATAGTCCACAGCTGTCCTCTCTTGGAAAATCAGATTCATCTTTCTCTGAAATTTCCGGACTATTTTATAAAGATGAAGCCTTGGAGAAAGATTTAAATGGTGATGTATAAAATGTTT

LH00995:48:23YTGFLT4:1:1262:15295:10682,LH00995:48:23YTGFLT4:2:2461:18175:7768,LH00995:48:23YTGFLT4:3:2180:51077:24625,LH00995:48:23YTGFLT4:4:1270:36305:5736,LH00995:48:23YTGFLT4:4:1270:36313:5750,LH00995:48:23YTGFLT4:6:1296:15400:24681,LH00995:48:23YTGFLT4:8:1427:45851:22411,LH00995:48:23YTGFLT4:8:1450:39039:7530,LH00995:48:23YTGFLT4:8:2282:25796:1631

CTIF

PTTG1IP

+/-

-/-

chr18:48572072

chr21:44855256

intron

CDS/splice-site

translocation/3'-3'

8294

medium

ENSG00000134030.14

ENSG00000183255.12

ENST00000330938.8

upstream

downstream

duplicates(2)

GGAGGAGGAGGAGGAGGAGGAACG|GAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGAGGTGCACGCTCCGCAGCCCAGCCCAGCC

LH00995:48:23YTGFLT4:2:1157:28724:21500,LH00995:48:23YTGFLT4:2:2260:38724:25199,LH00995:48:23YTGFLT4:3:1254:39525:22439,LH00995:48:23YTGFLT4:5:1474:47283:6955,LH00995:48:23YTGFLT4:7:1409:20918:11313,LH00995:48:23YTGFLT4:7:1409:20926:11299

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

14114

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(3)

GAGAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCA

LH00995:48:23YTGFLT4:1:1254:11137:25956,LH00995:48:23YTGFLT4:2:1307:39654:4167,LH00995:48:23YTGFLT4:2:2123:38756:5442,LH00995:48:23YTGFLT4:2:2355:39250:12042,LH00995:48:23YTGFLT4:3:2371:35196:2527,LH00995:48:23YTGFLT4:4:1371:46183:3060,LH00995:48:23YTGFLT4:5:1350:20157:25353

LVRN

+/+

+/-

chr5:116011020

chr5:116015366

intron

CDS

inversion/3'-3'

medium

ERAP1-like_C-terminal_domain(31%),Peptidase_M1_N-terminal_domain(100%),Peptidase_family_M1_domain(100%)|

ENSG00000172901.20

ENST00000503329.5

downstream

ATTGAAGTCATGCATTGAAACATGGAACAAATATCGAACGTATGCAAATTACTTAGCAAGTGAAGGTTTTTTGAGTGTGTGTGTTTTTAAATCAAACAGAAACAATTATATTGAGATTGAAACAGCACTTGAGTTAACCAAGTACCTTGCTGAAGAAGATGAAATTATAGTATGGCATACAGTCTTGGTAAACTTGGTAACCAGGGATCTTGTTTCTGAGGTGAACATCTATGA...TTTTAAATAAATCCTCTCTTCTTCTTTTCATATTTTAGCCAGCATCTGTGAGACAGGTCTTTTCCAAAGTAATAGTCTTAGTTCCATATATATATATATAT|CTTTTCTTCTTTGTTTGTTGTATTAGTGTAAGTATTTAACAAGATGTCCCACTCTTTATCACTTCCCAAGGCAATGCCATAACATAAAACCACATCTTTAATTGGATAAGGT

LH00995:48:23YTGFLT4:1:1352:30464:20253,LH00995:48:23YTGFLT4:1:1382:17204:26264,LH00995:48:23YTGFLT4:1:1275:51085:25704

NFIA-AS2

SYTL2

-/-

chr1:60988036

chr11:85748423

intron

CDS/splice-site

translocation

2214

medium

|C2_domain(100%),FYVE-type_zinc_finger(37%)

ENSG00000237928.6

ENSG00000137501.17

ENST00000389960.8

upstream

downstream

mismatches(1)

GGGGAGAGAGAGAGAGAGAGTCAG|ACATTTGCCTGAAAAAATTAAGGATGACCAGCAGCTGAAGAATATGAGTGGCCAATGGTTTTATGAAGCCAAGGCAAAAAGGCACAGGGACAAAATCCATGGCGCAGATATCATCAGAGCATCTATGAGAAAGAAGAGGCCCCAGATAGCAG

LH00995:48:23YTGFLT4:2:2262:38149:6325,LH00995:48:23YTGFLT4:4:2232:4341:27021,LH00995:48:23YTGFLT4:6:1458:7893:22383,LH00995:48:23YTGFLT4:8:2182:43044:27049

NFIA

SYTL2

+/-

-/-

chr1:60988036

chr11:85748423

intron

CDS/splice-site

translocation/3'-3'

2214

medium

|C2_domain(100%),FYVE-type_zinc_finger(37%)

ENSG00000162599.17

ENSG00000137501.17

ENST00000389960.8

upstream

downstream

mismatches(1)

GGGGAGAGAGAGAGAGAGAGTCAG|ACATTTGCCTGAAAAAATTAAGGATGACCAGCAGCTGAAGAATATGAGTGGCCAATGGTTTTATGAAGCCAAGGCAAAAAGGCACAGGGACAAAATCCATGGCGCAGATATCATCAGAGCATCTATGAGAAAGAAGAGGCCCCAGATAGCAG

LH00995:48:23YTGFLT4:2:2262:38149:6325,LH00995:48:23YTGFLT4:4:2232:4341:27021,LH00995:48:23YTGFLT4:6:1458:7893:22383,LH00995:48:23YTGFLT4:8:2182:43044:27049

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

717

medium

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

duplicates(1)

GAGCTTACCGACCTCCCGCCCCCGCTGCGCGCGTTTCTGGCCCTGCCAGTGTCTCCGCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAG

LH00995:48:23YTGFLT4:3:2456:11833:5946,LH00995:48:23YTGFLT4:6:1235:18725:13457,LH00995:48:23YTGFLT4:7:2117:49030:18193,LH00995:48:23YTGFLT4:1:2426:50980:7278

RPL23AP53

SEPTIN14

-/-

chr8:219290

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

717

low

ENSG00000223508.5

ENSG00000154997.9

ENST00000606975.1

ENST00000388975.4

upstream

downstream

TGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG___GACCCACCCGAGGACGGGTCACCATGGCTTTGGAGCACCTGGTAGTGTGGCATGTCCACAGTGAAGACCAGAGTTTCGTTGTCCTTAAGACTGACCTGGGGAGACGTGGCTGCAGGCCATTGAGGAAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAA

LH00995:48:23YTGFLT4:6:1188:21144:9940

LINC01002

SEPTIN14

-/-

chr19:203875

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

717

medium

ENSG00000282508.2

ENSG00000154997.9

ENST00000633773.1

ENST00000388975.4

upstream

downstream

duplicates(1),mismatches(1)

CGTGGCTGAGACTACAGGTGCTTGCCACTATGCCCAACTAACATTTGGAATTTTCGTATACGTGGATTCTAGAGGGGTGACAGCGAAAC|CTGCAGGACAAaTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACCGAT

LH00995:48:23YTGFLT4:1:2342:25189:6325,LH00995:48:23YTGFLT4:1:2485:20982:9239,LH00995:48:23YTGFLT4:3:2243:11744:13947,LH00995:48:23YTGFLT4:6:1316:51651:18669,LH00995:48:23YTGFLT4:8:2236:43497:7179

LINC01002

SEPTIN14

-/-

chr19:203871

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

717

low

ENSG00000282508.2

ENSG00000154997.9

ENST00000633344.1

ENST00000388975.4

upstream

downstream

duplicates(1),mismatches(1)

CGTATACGTGGATTCTAGAGGGGTGACAGCGAAACGTGA|CTGCAGGACAAaTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAG[a]AAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACtGATAC

LH00995:48:23YTGFLT4:2:1455:7504:6437,LH00995:48:23YTGFLT4:2:1455:7521:6437

LINC02228

PTTG1IP

-/+

-/-

chr5:25144223

chr21:44855257

intron

translocation/3'-3'

8294

medium

ENSG00000251273.4

ENSG00000183255.12

ENST00000330938.8

downstream

GGGAGGAGGAGGAGGAGGAGGAAC|GGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGAGGTGCACaCcCCGC

LH00995:48:23YTGFLT4:3:1148:32672:2724,LH00995:48:23YTGFLT4:5:1162:30229:22621,LH00995:48:23YTGFLT4:7:2477:40115:17969

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514779

CDS/splice-site

exon/splice-site

inversion

788

760

medium

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000418756.5

downstream

duplicates(2)

CCGGACCAGCTGCCCTGTGaCGACCCCATGGCGGGCAGCGGAGGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAAtGCGCCCCTCCCTGGCCCTGGACCCTATCG|AACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAG

PDQLPCdDPMAGSGGAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tc*

LH00995:48:23YTGFLT4:1:1433:21557:13569,LH00995:48:23YTGFLT4:1:1433:21573:13569,LH00995:48:23YTGFLT4:5:1338:45042:28969,LH00995:48:23YTGFLT4:7:1363:8095:27777,LH00995:48:23YTGFLT4:7:1497:48852:8665

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514784

CDS/splice-site

exon/splice-site

inversion

788

668

low

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000394921.8

downstream

duplicates(1)

GGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAAtGCGCCCCTCCCTGGCCCTGGACCCTATCG|TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAG

GAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tepakaikpidrksvhqicsgpvvlslstavkelvensldagatnidlkl

LH00995:48:23YTGFLT4:5:2143:44904:10739,LH00995:48:23YTGFLT4:5:2143:44921:10739

ASAP1

TPT1

-/+

-/-

chr8:130071005

chr13:45340186

intron

exon/splice-site

translocation/3'-3'

22484

medium

|Translationally_controlled_tumour_protein(79%)

ENSG00000153317.15

ENSG00000133112.17

ENST00000533567.5

downstream

duplicates(1)

GGGGGAGAGAGAGAGAGAGAGGGGA|AGATGGTCAGTAGGACAGAAGGTAACATTGATGACTCGCTCATTGGTGGAAATGCCTCCGCTGAAGGCCCCGAGGGCGAAGGTACCGAAAGCACAGTAATCACTGGTGTCGATATTGTCATGAACCATCACCTGCA

LH00995:48:23YTGFLT4:2:1220:30723:2457,LH00995:48:23YTGFLT4:4:1451:3670:20477,LH00995:48:23YTGFLT4:8:2323:30876:13541,LH00995:48:23YTGFLT4:8:2329:42453:24457

TMOD4

VPS72

-/-

chr1:151173499

chr1:151177031

CDS/splice-site

duplication

1123

medium

out-of-frame

Tropomodulin(92%)|YL1_nuclear_protein_C-terminal_domain(100%)

ENSG00000163157.15

ENSG00000163159.14

ENST00000295314.9

ENST00000368892.9

upstream

downstream

duplicates(1)

AGCAGATCACCCTGGAGCCTGAGCTGGAGGAGGCACTGGCACATGCCACAGATGCTGAAATGTGTGACATTGCAG|ACTTGATCCTGCTCCCTCGGTGTCTGCATTGACTCCTCATGCTGGGACTGGACCCGTCAACCCCCCTGCTCGCTGCTCACGTACCTTCATCACTTTTAGTGATGATGCAACTTTCGAGGAATGGTTCCCCCAAGGGCGGCCCCCAAAAGTCCCTGTTCGTGAGGTCTGTCC

QITLEPELEEALAHATDAEMCDIA|dlillprclh*

LH00995:48:23YTGFLT4:4:1467:3265:6409,LH00995:48:23YTGFLT4:5:2355:30108:14928,LH00995:48:23YTGFLT4:4:2208:7148:16526,LH00995:48:23YTGFLT4:6:2354:27503:4279

TMOD4

VPS72

-/-

chr1:151172268

chr1:151178145

CDS/splice-site

duplication

1115

low

in-frame

Tropomodulin(100%)|YL1_nuclear_protein(13%),YL1_nuclear_protein_C-terminal_domain(100%)

ENSG00000163157.15

ENSG00000163159.14

ENST00000295314.9

ENST00000368892.9

upstream

downstream

GGGAAACTTCTTTGGCAAAGTGTAAGTGGTCAGGCTTTACAAATGCAACAGATTCAGAAATAGGTAGGAGGGAGGCTTGGAACAGGTTCCTTCTtATTCCCTGTGACTCCTCTTCTTACCCTCTCCAGCAATTCTGGACATGTACACACTGATGAGTAACAAGCAATACTATGATGCCCTCTGCAGTGGAGAAATCTGCAACACTGAAGGCATTAGCA|AGACATATGAGCGGCTCGAGGCTGATAAAAAG

gnffgkv*vvrlykcnrfrnr*eggleqvpsysl*llflpspAILDMYTLMSNKQYYDALCSGEICNTEGIS|kTYERLEADK

LH00995:48:23YTGFLT4:4:2439:45325:26769

ZFP36L2

FP671120.4

-/-

+/+

chr2:43224910

chr21:8214657

CDS

intron

translocation

14599

1575

low

out-of-frame

Tis11B_like_protein__N_terminus(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|

ENSG00000152518.8

ENSG00000278996.1

ENST00000282388.4

upstream

duplicates(132),mismatches(131)

GGCCCAAGTTGCACCACAGCCTCAGCTTCTCGGGCTTCCCGTCGGGCCACCATCAGCCCCCGGGCGGCCTCGAGTCGCCGCTGCTGCTCGACAGCCCCACGTCGCGCACGCCGCCGCCGCCCTCCTGCTCTTCGGCCTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC

PKLHHSLSFSGFPSGHHQPPGGLESPLLLDSPTSRTPPPPSCSSASS|vrpsvlll

LH00995:48:23YTGFLT4:1:1119:4228:12784,LH00995:48:23YTGFLT4:1:1144:22940:13583,LH00995:48:23YTGFLT4:1:1190:50770:22355,LH00995:48:23YTGFLT4:1:1203:2602:14087,LH00995:48:23YTGFLT4:1:1234:47429:4461,LH00995:48:23YTGFLT4:1:1234:47445:4461,LH00995:48:23YTGFLT4:1:1248:15667:3957,LH00995:48:23YTGFLT4:1:1250:8338:12896,LH00995:48:23YTGFLT4:1:1281:23709:22201,LH00995:48:23YTGFLT4:1:1289:13726:14746,LH00995:48:23YTGFLT4:1:1322:46304:24765,LH00995:48:23YTGFLT4:1:1338:7472:18964,LH00995:48:23YTGFLT4:1:1349:6550:18151,LH00995:48:23YTGFLT4:1:1364:48302:20575,LH00995:48:23YTGFLT4:1:1369:28320:26012,LH00995:48:23YTGFLT4:1:1378:28021:17422,LH00995:48:23YTGFLT4:1:1420:30723:24288,LH00995:48:23YTGFLT4:1:1425:6542:28394,LH00995:48:23YTGFLT4:1:1427:9705:26110,LH00995:48:23YTGFLT4:1:1429:37858:8707,LH00995:48:23YTGFLT4:1:1460:17730:27287,LH00995:48:23YTGFLT4:1:1462:22018:17142,LH00995:48:23YTGFLT4:1:1462:50689:19356,LH00995:48:23YTGFLT4:1:1474:32697:10024,LH00995:48:23YTGFLT4:1:1498:30771:21906,LH00995:48:23YTGFLT4:1:2104:19016:17044,LH00995:48:23YTGFLT4:1:2143:17876:1813,LH00995:48:23YTGFLT4:1:2146:9948:8146,LH00995:48:23YTGFLT4:1:2169:16314:7880,LH00995:48:23YTGFLT4:1:2236:38012:15699,LH00995:48:23YTGFLT4:1:2241:39937:10402,LH00995:48:23YTGFLT4:1:2244:44597:10094,LH00995:48:23YTGFLT4:1:2341:1372:28436,LH00995:48:23YTGFLT4:1:2345:25068:12700,LH00995:48:23YTGFLT4:1:2443:34978:6633,LH00995:48:23YTGFLT4:1:2472:45875:6927,LH00995:48:23YTGFLT4:1:2480:43400:12588,LH00995:48:23YTGFLT4:2:1102:19041:25550,LH00995:48:23YTGFLT4:2:1133:12415:7460,LH00995:48:23YTGFLT4:2:1194:25456:12392,LH00995:48:23YTGFLT4:2:1216:52185:4937,LH00995:48:23YTGFLT4:2:1258:35585:7684,LH00995:48:23YTGFLT4:2:1296:49556:9604,LH00995:48:23YTGFLT4:2:1296:49564:9590,LH00995:48:23YTGFLT4:2:1305:43845:28548,LH00995:48:23YTGFLT4:2:1323:48901:24611,LH00995:48:23YTGFLT4:2:1347:17382:16764,LH00995:48:23YTGFLT4:2:1388:25480:4867,LH00995:48:23YTGFLT4:2:1419:44710:4153,LH00995:48:23YTGFLT4:2:1419:44726:4153,LH00995:48:23YTGFLT4:2:1449:15869:10304,LH00995:48:23YTGFLT4:2:2144:48901:4181,LH00995:48:23YTGFLT4:2:2218:24979:12154,LH00995:48:23YTGFLT4:2:2231:32939:24176,LH00995:48:23YTGFLT4:2:2240:40495:12518,LH00995:48:23YTGFLT4:2:2244:32956:15489,LH00995:48:23YTGFLT4:2:2258:44047:2808,LH00995:48:23YTGFLT4:2:2258:44055:2794,LH00995:48:23YTGFLT4:2:2262:46320:16133,LH00995:48:23YTGFLT4:2:2279:1688:10767,LH00995:48:23YTGFLT4:2:2301:20238:14956,LH00995:48:23YTGFLT4:2:2332:17326:16946,LH00995:48:23YTGFLT4:2:2344:50616:1294,LH00995:48:23YTGFLT4:2:2359:20060:11033,LH00995:48:23YTGFLT4:2:2388:5927:19538,LH00995:48:23YTGFLT4:2:2442:18466:4097,LH00995:48:23YTGFLT4:2:2442:9672:5540,LH00995:48:23YTGFLT4:2:2448:42372:28212,LH00995:48:23YTGFLT4:2:2451:3613:17801,LH00995:48:23YTGFLT4:2:2457:6388:1112,LH00995:48:23YTGFLT4:2:2474:23879:22635,LH00995:48:23YTGFLT4:3:1110:28781:18543,LH00995:48:23YTGFLT4:3:1114:11015:2906,LH00995:48:23YTGFLT4:3:1128:3791:12056,LH00995:48:23YTGFLT4:3:1128:3807:12056,LH00995:48:23YTGFLT4:3:1148:46272:3438,LH00995:48:23YTGFLT4:3:1159:26346:26965,LH00995:48:23YTGFLT4:3:1244:38643:16680,LH00995:48:23YTGFLT4:3:1268:31103:22313,LH00995:48:23YTGFLT4:3:1275:11760:21906,LH00995:48:23YTGFLT4:3:1292:22390:25662,LH00995:48:23YTGFLT4:3:1356:15667:8525,LH00995:48:23YTGFLT4:3:1398:24073:24597,LH00995:48:23YTGFLT4:3:1409:5304:12826,LH00995:48:23YTGFLT4:3:1427:40204:14228,LH00995:48:23YTGFLT4:3:1431:18296:6913,LH00995:48:23YTGFLT4:3:2130:41143:21626,LH00995:48:23YTGFLT4:3:2148:14235:1645,LH00995:48:23YTGFLT4:3:2178:6898:9281,LH00995:48:23YTGFLT4:3:2190:37599:25493,LH00995:48:23YTGFLT4:3:2193:7723:11131,LH00995:48:23YTGFLT4:3:2206:38295:24709,LH00995:48:23YTGFLT4:3:2214:35876:21500,LH00995:48:23YTGFLT4:3:2230:50567:21052,LH00995:48:23YTGFLT4:3:2244:16533:14340,LH00995:48:23YTGFLT4:3:2307:33894:20982,LH00995:48:23YTGFLT4:3:2328:36871:21710,LH00995:48:23YTGFLT4:3:2330:4009:8258,LH00995:48:23YTGFLT4:3:2386:20618:5890,LH00995:48:23YTGFLT4:3:2404:14211:23882,LH00995:48:23YTGFLT4:3:2421:34331:25437,LH00995:48:23YTGFLT4:3:2421:6525:5246,LH00995:48:23YTGFLT4:3:2425:30245:7516,LH00995:48:23YTGFLT4:3:2429:8645:4377,LH00995:48:23YTGFLT4:3:2441:33773:28870,LH00995:48:23YTGFLT4:3:2448:14049:10682,LH00995:48:23YTGFLT4:3:2475:20359:23406,LH00995:48:23YTGFLT4:3:2477:19599:21836,LH00995:48:23YTGFLT4:4:1118:24089:16442,LH00995:48:23YTGFLT4:4:1125:37858:5680,LH00995:48:23YTGFLT4:4:1142:7901:4797,LH00995:48:23YTGFLT4:4:1144:8532:2359,LH00995:48:23YTGFLT4:4:1151:40536:19174,LH00995:48:23YTGFLT4:4:1161:21306:17899,LH00995:48:23YTGFLT4:4:1173:36831:22369,LH00995:48:23YTGFLT4:4:1178:28441:28156,LH00995:48:23YTGFLT4:4:1202:4349:14200,LH00995:48:23YTGFLT4:4:1221:30278:13961,LH00995:48:23YTGFLT4:4:1244:47170:17464,LH00995:48:23YTGFLT4:4:1252:37623:14970,LH00995:48:23YTGFLT4:4:1267:35844:22481,LH00995:48:23YTGFLT4:4:1312:28142:13177,LH00995:48:23YTGFLT4:4:1401:22447:15671,LH00995:48:23YTGFLT4:4:1430:39266:14031,LH00995:48:23YTGFLT4:4:1439:5094:7558,LH00995:48:23YTGFLT4:4:1439:5102:7572,LH00995:48:23YTGFLT4:4:1441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ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

10921

8638

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(25),mismatches(1),multimappers(1)

GGCAAGAGCCACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1163:7893:15657,LH00995:48:23YTGFLT4:1:1177:5571:17324,LH00995:48:23YTGFLT4:1:1188:6299:25199,LH00995:48:23YTGFLT4:1:1411:42550:19580,LH00995:48:23YTGFLT4:1:1495:44605:28212,LH00995:48:23YTGFLT4:1:2119:45908:2443,LH00995:48:23YTGFLT4:1:2209:45964:8174,LH00995:48:23YTGFLT4:1:2245:51441:2976,LH00995:48:23YTGFLT4:1:2286:15813:3452,LH00995:48:23YTGFLT4:1:2367:48343:18655,LH00995:48:23YTGFLT4:1:2431:51077:18880,LH00995:48:23YTGFLT4:2:1248:5369:23195,LH00995:48:23YTGFLT4:2:1310:26548:17254,LH00995:48:23YTGFLT4:2:1360:28506:16918,LH00995:48:23YTGFLT4:2:1497:43165:6409,LH00995:48:23YTGFLT4:2:2417:20465:29305,LH00995:48:23YTGFLT4:3:1145:33837:3760,LH00995:48:23YTGFLT4:3:1158:8046:2023,LH00995:48:23YTGFLT4:3:1473:33894:22299,LH00995:48:23YTGFLT4:3:1473:33910:22299,LH00995:48:23YTGFLT4:3:2136:29792:4881,LH00995:48:23YTGFLT4:3:2175:42049:9099,LH00995:48:23YTGFLT4:3:2211:38780:21822,LH00995:48:23YTGFLT4:3:2253:23935:27553,LH00995:48:23YTGFLT4:3:2363:35164:15979,LH00995:48:23YTGFLT4:4:1162:41078:26138,LH00995:48:23YTGFLT4:4:1327:31758:20309,LH00995:48:23YTGFLT4:4:1423:20796:11355,LH00995:48:23YTGFLT4:4:2142:28983:5106,LH00995:48:23YTGFLT4:4:2171:44184:17983,LH00995:48:23YTGFLT4:4:2486:44799:22046,LH00995:48:23YTGFLT4:4:2490:30156:25578,LH00995:48:23YTGFLT4:5:1132:29097:10430,LH00995:48:23YTGFLT4:5:1157:20918:2317,LH00995:48:23YTGFLT4:5:1304:48941:12714,LH00995:48:23YTGFLT4:5:1317:24162:8048,LH00995:48:23YTGFLT4:5:1338:2723:18922,LH00995:48:23YTGFLT4:5:1338:2731:18908,LH00995:48:23YTGFLT4:5:1404:6477:6143,LH00995:48:23YTGFLT4:5:2233:33392:27483,LH00995:48:23YTGFLT4:5:2487:14656:15405,LH00995:48:23YTGFLT4:5:2487:14672:15405,LH00995:48:23YTGFLT4:5:2487:14680:15391,LH00995:48:23YTGFLT4:6:1167:37526:18221,LH00995:48:23YTGFLT4:6:1409:34201:12938,LH00995:48:23YTGFLT4:6:1410:19089:19664,LH00995:48:23YTGFLT4:6:2219:28110:4517,LH00995:48:23YTGFLT4:6:2254:24437:12896,LH00995:48:23YTGFLT4:6:2319:43845:11201,LH00995:48:23YTGFLT4:6:2374:22261:21262,LH00995:48:23YTGFLT4:6:2413:23547:7908,LH00995:48:23YTGFLT4:6:2468:24631:21108,LH00995:48:23YTGFLT4:7:1252:11752:15082,LH00995:48:23YTGFLT4:7:1252:11768:15082,LH00995:48:23YTGFLT4:7:1297:48415:6086,LH00995:48:23YTGFLT4:7:1477:46660:3158,LH00995:48:23YTGFLT4:7:2106:10004:7151,LH00995:48:23YTGFLT4:7:2159:21225:14424,LH00995:48:23YTGFLT4:7:2278:36046:27651,LH00995:48:23YTGFLT4:7:2384:6857:24260,LH00995:48:23YTGFLT4:7:2480:40512:24989,LH00995:48:23YTGFLT4:8:1323:38076:1378,LH00995:48:23YTGFLT4:8:1348:17261:21878,LH00995:48:23YTGFLT4:8:2111:8718:19468,LH00995:48:23YTGFLT4:8:2178:39937:5806,LH00995:48:23YTGFLT4:8:2178:39945:5820,LH00995:48:23YTGFLT4:8:2233:12868:5694,LH00995:48:23YTGFLT4:8:2445:48869:28086

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399952

exon

intron

translocation

65535

8638

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(20),mismappers(7),mismatches(1)

GCATACTGCGCGTGGCAGCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1103:51765:14438,LH00995:48:23YTGFLT4:1:1103:8872:8048,LH00995:48:23YTGFLT4:1:1107:51037:5330,LH00995:48:23YTGFLT4:1:1131:11606:9057,LH00995:48:23YTGFLT4:1:1303:8475:13051,LH00995:48:23YTGFLT4:1:1401:24283:20001,LH00995:48:23YTGFLT4:1:1452:12795:23812,LH00995:48:23YTGFLT4:1:2176:45455:15475,LH00995:48:23YTGFLT4:1:2180:32680:4615,LH00995:48:23YTGFLT4:1:2279:50268:15068,LH00995:48:23YTGFLT4:1:2282:33481:22313,LH00995:48:23YTGFLT4:2:1133:29469:9786,LH00995:48:23YTGFLT4:2:1168:2351:1883,LH00995:48:23YTGFLT4:2:1307:34800:6773,LH00995:48:23YTGFLT4:2:1307:34808:6759,LH00995:48:23YTGFLT4:2:1307:51878:28590,LH00995:48:23YTGFLT4:2:1481:24566:10711,LH00995:48:23YTGFLT4:2:2158:4940:28842,LH00995:48:23YTGFLT4:2:2169:4964:2177,LH00995:48:23YTGFLT4:3:1216:18491:27315,LH00995:48:23YTGFLT4:3:1334:3629:4405,LH00995:48:23YTGFLT4:3:1369:32947:4573,LH00995:48:23YTGFLT4:3:1371:16873:20673,LH00995:48:23YTGFLT4:3:2280:1769:21640,LH00995:48:23YTGFLT4:4:1190:29444:24989,LH00995:48:23YTGFLT4:4:1344:1057:3200,LH00995:48:23YTGFLT4:4:1406:16371:12742,LH00995:48:23YTGFLT4:4:1494:27948:18698,LH00995:48:23YTGFLT4:4:2119:6137:24022,LH00995:48:23YTGFLT4:4:2209:45422:28534,LH00995:48:23YTGFLT4:4:2218:5733:8216,LH00995:48:23YTGFLT4:4:2235:42971:2906,LH00995:48:23YTGFLT4:4:2259:22536:12910,LH00995:48:23YTGFLT4:4:2320:11533:21458,LH00995:48:23YTGFLT4:4:2467:41304:13051,LH00995:48:23YTGFLT4:5:1236:7496:17885,LH00995:48:23YTGFLT4:5:1334:45608:1112,LH00995:48:23YTGFLT4:5:2142:31904:23364,LH00995:48:23YTGFLT4:5:2148:17188:20295,LH00995:48:23YTGFLT4:5:2210:28029:10963,LH00995:48:23YTGFLT4:6:1116:10676:9071,LH00995:48:23YTGFLT4:6:1133:9753:8174,LH00995:48:23YTGFLT4:6:1133:9770:8174,LH00995:48:23YTGFLT4:6:1178:6032:25970,LH00995:48:23YTGFLT4:6:1261:39460:1280,LH00995:48:23YTGFLT4:6:1414:45867:10444,LH00995:48:23YTGFLT4:6:1414:45875:10458,LH00995:48:23YTGFLT4:6:2130:5385:25045,LH00995:48:23YTGFLT4:6:2229:1752:20491,LH00995:48:23YTGFLT4:6:2376:29914:28997,LH00995:48:23YTGFLT4:7:1182:7011:5050,LH00995:48:23YTGFLT4:7:1453:29339:23882,LH00995:48:23YTGFLT4:7:1480:37454:12938,LH00995:48:23YTGFLT4:7:1480:37470:12938,LH00995:48:23YTGFLT4:7:2191:21856:21122,LH00995:48:23YTGFLT4:7:2385:37219:15194,LH00995:48:23YTGFLT4:7:2434:49459:17506,LH00995:48:23YTGFLT4:8:1156:11549:10556,LH00995:48:23YTGFLT4:8:1376:22972:12378,LH00995:48:23YTGFLT4:8:1376:22981:12364,LH00995:48:23YTGFLT4:8:2248:43497:7460,LH00995:48:23YTGFLT4:8:2262:38376:28660,LH00995:48:23YTGFLT4:8:2307:22495:3564,LH00995:48:23YTGFLT4:8:2471:22827:16806,LH00995:48:23YTGFLT4:8:2495:3880:29669

LRRC37A

+/+

chr17:46323027

chr17:46302638

CDS/splice-site

duplication/non-canonical_splicing

1108

778

low

in-frame

Leucine-rich_repeat-containing_protein_37_family(100%),Leucine_rich_repeat(100%)|LRRC37A/B_like_protein_1_C-terminal_domain(100%),Leucine_rich_repeat(95%)

ENSG00000176681.14

ENST00000496930.5

ENST00000393465.7

downstream

upstream

duplicates(17),mismatches(2),multimappers(1)

TACAGAACTCAGCTTTGGAACATTTCAGGCCTGGCACGGAATGCAGTTTTTACATAAGTT___AATTCTCAATCACAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAAATTGCCAGCATTAAAATATCT___AGACATGGGAACAACGCTAGTCCCACTTACAACACTTAAGAACATTCTCATGATGACTGTTGAACTGGAAAAACT|AATTCTCAGAGAAAATAACTTGACTGAATTACACAAGGATTCATTTGAAGGCCTGCTATCCCTCCAGTATTT___AGATTTATCCTGCAATAAAATACAGTCTATTGAAAGACATACATTTGAACCACTACCATTTTTGAAGTTTAT

MQFLHKLILNHNPLTTVEDPYLFKLPALKYLDMGTTLVPLTTLKNILMMTVELEKl|ILRENNLTELHKDSFEGLLSLQYLDLSCNKIQSIERHTFEPLPFLKF

LH00995:48:23YTGFLT4:1:1131:30990:29655,LH00995:48:23YTGFLT4:1:1171:13540:25802,LH00995:48:23YTGFLT4:1:1369:9794:13233,LH00995:48:23YTGFLT4:2:2161:27171:9646,LH00995:48:23YTGFLT4:2:2302:19097:20996,LH00995:48:23YTGFLT4:2:2459:32858:6633,LH00995:48:23YTGFLT4:3:1320:43076:20996,LH00995:48:23YTGFLT4:3:1337:21816:24443,LH00995:48:23YTGFLT4:3:1337:21832:24443,LH00995:48:23YTGFLT4:3:2334:47048:23167,LH00995:48:23YTGFLT4:3:2345:31669:23322,LH00995:48:23YTGFLT4:4:1345:25181:25395,LH00995:48:23YTGFLT4:4:1345:25197:25395,LH00995:48:23YTGFLT4:4:2343:7100:9407,LH00995:48:23YTGFLT4:4:2426:38910:1897,LH00995:48:23YTGFLT4:5:1334:29687:24541,LH00995:48:23YTGFLT4:6:1451:3508:14984,LH00995:48:23YTGFLT4:6:2110:25027:12434,LH00995:48:23YTGFLT4:6:2320:33522:1813,LH00995:48:23YTGFLT4:6:2469:33546:19258,LH00995:48:23YTGFLT4:6:2474:41466:15881,LH00995:48:23YTGFLT4:8:1115:7027:27077,LH00995:48:23YTGFLT4:8:1408:15594:14003,LH00995:48:23YTGFLT4:8:1413:13701:28828,LH00995:48:23YTGFLT4:1:1334:30092:19300,LH00995:48:23YTGFLT4:1:2206:42081:21794,LH00995:48:23YTGFLT4:2:1156:4398:6605,LH00995:48:23YTGFLT4:2:2132:33489:26334,LH00995:48:23YTGFLT4:3:1110:40091:9716,LH00995:48:23YTGFLT4:3:1146:24639:7334,LH00995:48:23YTGFLT4:3:1146:24655:7334,LH00995:48:23YTGFLT4:3:1146:24663:7348,LH00995:48:23YTGFLT4:3:1146:24671:7334,LH00995:48:23YTGFLT4:3:2208:37332:4685,LH00995:48:23YTGFLT4:3:2223:28385:19258,LH00995:48:23YTGFLT4:3:2223:28393:19272,LH00995:48:23YTGFLT4:3:2251:16112:27623,LH00995:48:23YTGFLT4:4:1169:42000:27511,LH00995:48:23YTGFLT4:4:1426:19000:24106,LH00995:48:23YTGFLT4:4:2280:2489:18964,LH00995:48:23YTGFLT4:5:1101:7933:23013,LH00995:48:23YTGFLT4:5:2352:50834:4699,LH00995:48:23YTGFLT4:6:1309:48043:1631,LH00995:48:23YTGFLT4:6:1389:45608:1925,LH00995:48:23YTGFLT4:6:2135:2205:3424,LH00995:48:23YTGFLT4:7:2262:50066:12252,LH00995:48:23YTGFLT4:7:2401:16816:6843,LH00995:48:23YTGFLT4:8:1429:29703:16862,LH00995:48:23YTGFLT4:8:2284:8880:13639,LH00995:48:23YTGFLT4:8:2284:8888:13625,LH00995:48:23YTGFLT4:8:2284:8888:13653,LH00995:48:23YTGFLT4:8:2290:21759:16414,LH00995:48:23YTGFLT4:8:2468:13540:2962

ATN1

FP671120.4

+/+

chr12:6936427

chr21:8214653

CDS

intron

translocation

12724

1575

low

out-of-frame

Atrophin-1_family(16%)|

ENSG00000111676.15

ENSG00000278996.1

ENST00000356654.8

downstream

upstream

duplicates(34),mismatches(27)

ATCTGCCCTCTCCCCACGCCATGGGACAGGGTATGGGTGGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCTCCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGTAGCTCTGCAGCAGCCTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASs|svrpsvlll

LH00995:48:23YTGFLT4:1:1101:22657:8188,LH00995:48:23YTGFLT4:1:1109:27746:20085,LH00995:48:23YTGFLT4:1:1109:27754:20071,LH00995:48:23YTGFLT4:1:1132:35836:10753,LH00995:48:23YTGFLT4:1:1264:32001:18908,LH00995:48:23YTGFLT4:1:1297:31548:14816,LH00995:48:23YTGFLT4:1:1312:8402:15615,LH00995:48:23YTGFLT4:1:1328:37842:27595,LH00995:48:23YTGFLT4:1:1358:11703:20799,LH00995:48:23YTGFLT4:1:1492:48844:17114,LH00995:48:23YTGFLT4:1:2452:30642:28576,LH00995:48:23YTGFLT4:1:2452:30650:28562,LH00995:48:23YTGFLT4:1:2460:10700:15279,LH00995:48:23YTGFLT4:2:1183:6186:22285,LH00995:48:23YTGFLT4:2:1361:16929:11327,LH00995:48:23YTGFLT4:2:1430:35439:15979,LH00995:48:23YTGFLT4:2:1447:48771:15979,LH00995:48:23YTGFLT4:2:1450:34792:19482,LH00995:48:23YTGFLT4:2:1480:44751:10556,LH00995:48:23YTGFLT4:2:2112:26750:26236,LH00995:48:23YTGFLT4:2:2178:12010:19426,LH00995:48:23YTGFLT4:2:2290:20068:18417,LH00995:48:23YTGFLT4:3:1163:36912:28702,LH00995:48:23YTGFLT4:3:1332:24485:3985,LH00995:48:23YTGFLT4:3:1365:38441:13807,LH00995:48:23YTGFLT4:3:1367:16169:24330,LH00995:48:23YTGFLT4:3:1380:40948:20841,LH00995:48:23YTGFLT4:3:2125:52064:11677,LH00995:48:23YTGFLT4:3:2171:49678:9926,LH00995:48:23YTGFLT4:3:2171:49686:9912,LH00995:48:23YTGFLT4:3:2173:11881:10739,LH00995:48:23YTGFLT4:3:2187:12310:10108,LH00995:48:23YTGFLT4:3:2190:11104:6086,LH00995:48:23YTGFLT4:3:2190:11121:6086,LH00995:48:23YTGFLT4:3:2197:28093:8132,LH00995:48:23YTGFLT4:3:2306:19801:14340,LH00995:48:23YTGFLT4:3:2432:21460:8805,LH00995:48:23YTGFLT4:3:2488:36272:19328,LH00995:48:23YTGFLT4:4:1117:38198:19804,LH00995:48:23YTGFLT4:4:1237:1121:23181,LH00995:48:23YTGFLT4:4:1258:40997:10192,LH00995:48:23YTGFLT4:4:1312:2222:10094,LH00995:48:23YTGFLT4:4:1357:28668:4419,LH00995:48:23YTGFLT4:4:1496:12536:13947,LH00995:48:23YTGFLT4:4:2135:37130:25942,LH00995:48:23YTGFLT4:4:2170:43448:18137,LH00995:48:23YTGFLT4:4:2170:46118:26628,LH00995:48:23YTGFLT4:4:2244:50187:24176,LH00995:48:23YTGFLT4:5:1208:42510:27834,LH00995:48:23YTGFLT4:5:1268:43481:17941,LH00995:48:23YTGFLT4:5:1334:19607:10556,LH00995:48:23YTGFLT4:5:1482:9195:9786,LH00995:48:23YTGFLT4:5:2144:27260:24961,LH00995:48:23YTGFLT4:5:2145:5935:19692,LH00995:48:23YTGFLT4:5:2409:29825:21696,LH00995:48:23YTGFLT4:5:2431:32519:18880,LH00995:48:23YTGFLT4:5:2490:15659:16890,LH00995:48:23YTGFLT4:6:1214:39080:26628,LH00995:48:23YTGFLT4:6:1349:31661:6269,LH00995:48:23YTGFLT4:6:1357:49629:11944,LH00995:48:23YTGFLT4:6:1385:21063:20617,LH00995:48:23YTGFLT4:6:1422:22131:22327,LH00995:48:23YTGFLT4:6:1476:22309:3971,LH00995:48:23YTGFLT4:6:2249:37591:7348,LH00995:48:23YTGFLT4:6:2276:32923:24541,LH00995:48:23YTGFLT4:6:2334:43764:12210,LH00995:48:23YTGFLT4:6:2357:51004:19006,LH00995:48:23YTGFLT4:7:1103:50543:14256,LH00995:48:23YTGFLT4:7:1103:50551:14270,LH00995:48:23YTGFLT4:7:1286:5676:10108,LH00995:48:23YTGFLT4:7:1358:42494:22201,LH00995:48:23YTGFLT4:7:1459:46466:21990,LH00995:48:23YTGFLT4:7:2137:23919:18025,LH00995:48:23YTGFLT4:7:2220:7731:8174,LH00995:48:23YTGFLT4:7:2258:27924:9716,LH00995:48:23YTGFLT4:7:2330:40010:3830,LH00995:48:23YTGFLT4:7:2392:51320:10640,LH00995:48:23YTGFLT4:8:1173:9122:20505,LH00995:48:23YTGFLT4:8:1324:17350:13457,LH00995:48:23YTGFLT4:8:1430:42000:8314,LH00995:48:23YTGFLT4:8:2165:10360:17661,LH00995:48:23YTGFLT4:8:2195:22358:25550,LH00995:48:23YTGFLT4:8:2208:31240:27483,LH00995:48:23YTGFLT4:8:2225:15497:6913,LH00995:48:23YTGFLT4:8:2289:37187:10374,LH00995:48:23YTGFLT4:8:2379:33522:6297,LH00995:48:23YTGFLT4:8:2379:33538:6297,LH00995:48:23YTGFLT4:8:2386:24736:21318,LH00995:48:23YTGFLT4:8:2391:47865:18389,LH00995:48:23YTGFLT4:8:2418:28288:28114,LH00995:48:23YTGFLT4:8:2418:28296:28100,LH00995:48:23YTGFLT4:8:2455:32074:11495

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

11420

8638

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(10),mismatches(1)

CCAAGCTCCCTTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

PSSLLPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:2179:20392:17969,LH00995:48:23YTGFLT4:1:2389:34711:8244,LH00995:48:23YTGFLT4:2:1136:20392:20435,LH00995:48:23YTGFLT4:2:1286:39371:27217,LH00995:48:23YTGFLT4:2:2108:45228:5498,LH00995:48:23YTGFLT4:2:2118:47469:27707,LH00995:48:23YTGFLT4:2:2216:22422:22103,LH00995:48:23YTGFLT4:2:2453:48844:10164,LH00995:48:23YTGFLT4:3:1267:48140:21612,LH00995:48:23YTGFLT4:3:2223:37769:25507,LH00995:48:23YTGFLT4:3:2233:39460:15685,LH00995:48:23YTGFLT4:3:2260:39557:14676,LH00995:48:23YTGFLT4:3:2282:21290:6044,LH00995:48:23YTGFLT4:3:2283:12116:16694,LH00995:48:23YTGFLT4:3:2294:31119:18025,LH00995:48:23YTGFLT4:3:2392:44662:15447,LH00995:48:23YTGFLT4:3:2421:18305:7039,LH00995:48:23YTGFLT4:5:1366:13823:17745,LH00995:48:23YTGFLT4:5:1450:11719:18585,LH00995:48:23YTGFLT4:5:2191:37534:6409,LH00995:48:23YTGFLT4:5:2212:16064:12910,LH00995:48:23YTGFLT4:5:2220:37785:1518,LH00995:48:23YTGFLT4:5:2398:30965:19917,LH00995:48:23YTGFLT4:5:2406:16233:7656,LH00995:48:23YTGFLT4:6:1116:9147:27413,LH00995:48:23YTGFLT4:6:1488:8030:18249,LH00995:48:23YTGFLT4:6:2156:12116:20141,LH00995:48:23YTGFLT4:6:2230:15174:28212,LH00995:48:23YTGFLT4:6:2253:22819:15559,LH00995:48:23YTGFLT4:6:2290:15578:14031,LH00995:48:23YTGFLT4:7:1381:5846:25732,LH00995:48:23YTGFLT4:7:1381:5854:25746,LH00995:48:23YTGFLT4:7:2322:5822:14592,LH00995:48:23YTGFLT4:7:2432:24469:7460,LH00995:48:23YTGFLT4:8:1210:28943:29165,LH00995:48:23YTGFLT4:8:2204:6970:8202,LH00995:48:23YTGFLT4:8:2279:49532:18249,LH00995:48:23YTGFLT4:8:2479:19842:9001

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

8257

8638

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(46),mismatches(3),multimappers(1)

GCCACCCATCCCTGCAGTCCTCCCTAAGCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

HPSLQSSLSNPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1168:18685:4811,LH00995:48:23YTGFLT4:1:1375:6323:1785,LH00995:48:23YTGFLT4:1:1380:18159:28226,LH00995:48:23YTGFLT4:1:1469:45883:27539,LH00995:48:23YTGFLT4:1:2150:12059:5750,LH00995:48:23YTGFLT4:1:2267:22803:25311,LH00995:48:23YTGFLT4:1:2276:23968:16904,LH00995:48:23YTGFLT4:1:2298:6064:2653,LH00995:48:23YTGFLT4:1:2346:20683:22397,LH00995:48:23YTGFLT4:1:2373:4123:29557,LH00995:48:23YTGFLT4:2:1461:3831:26558,LH00995:48:23YTGFLT4:2:2279:2618:19776,LH00995:48:23YTGFLT4:2:2279:2634:19776,LH00995:48:23YTGFLT4:2:2404:17576:9169,LH00995:48:23YTGFLT4:2:2497:42777:2794,LH00995:48:23YTGFLT4:3:1245:20424:13233,LH00995:48:23YTGFLT4:3:1245:20432:13219,LH00995:48:23YTGFLT4:3:1322:25731:24050,LH00995:48:23YTGFLT4:3:1322:25739:24036,LH00995:48:23YTGFLT4:3:1322:25739:24064,LH00995:48:23YTGFLT4:3:1322:25747:24050,LH00995:48:23YTGFLT4:3:1375:39047:5946,LH00995:48:23YTGFLT4:3:1394:8516:22761,LH00995:48:23YTGFLT4:3:1406:10935:2709,LH00995:48:23YTGFLT4:3:1496:12358:18964,LH00995:48:23YTGFLT4:3:1496:18733:13667,LH00995:48:23YTGFLT4:3:2112:33781:25017,LH00995:48:23YTGFLT4:3:2112:33797:25017,LH00995:48:23YTGFLT4:3:2112:33805:25003,LH00995:48:23YTGFLT4:3:2168:18944:22579,LH00995:48:23YTGFLT4:3:2350:46951:25045,LH00995:48:23YTGFLT4:3:2383:12002:20449,LH00995:48:23YTGFLT4:3:2496:28498:17072,LH00995:48:23YTGFLT4:3:2496:28506:17086,LH00995:48:23YTGFLT4:4:1141:20570:11439,LH00995:48:23YTGFLT4:4:1182:10870:20813,LH00995:48:23YTGFLT4:4:1281:20408:23518,LH00995:48:23YTGFLT4:4:1281:20416:23504,LH00995:48:23YTGFLT4:4:1284:31378:14970,LH00995:48:23YTGFLT4:4:2404:1987:26390,LH00995:48:23YTGFLT4:5:1101:35310:11299,LH00995:48:23YTGFLT4:5:1318:40220:16582,LH00995:48:23YTGFLT4:5:1348:28393:29417,LH00995:48:23YTGFLT4:5:2191:4026:1448,LH00995:48:23YTGFLT4:5:2358:4463:4559,LH00995:48:23YTGFLT4:5:2428:18814:15965,LH00995:48:23YTGFLT4:5:2449:45940:25227,LH00995:48:23YTGFLT4:5:2450:39217:12686,LH00995:48:23YTGFLT4:6:1155:33506:12378,LH00995:48:23YTGFLT4:6:1155:33514:12364,LH00995:48:23YTGFLT4:6:1155:33522:12378,LH00995:48:23YTGFLT4:6:1208:15166:22705,LH00995:48:23YTGFLT4:6:1256:41757:23195,LH00995:48:23YTGFLT4:6:1292:40730:24583,LH00995:48:23YTGFLT4:6:2101:31596:18151,LH00995:48:23YTGFLT4:6:2124:51935:15349,LH00995:48:23YTGFLT4:6:2144:6218:3536,LH00995:48:23YTGFLT4:6:2268:48828:23055,LH00995:48:23YTGFLT4:6:2432:35658:1252,LH00995:48:23YTGFLT4:7:1255:12180:11593,LH00995:48:23YTGFLT4:7:1416:10457:7320,LH00995:48:23YTGFLT4:7:1449:6445:13961,LH00995:48:23YTGFLT4:7:2214:31693:23812,LH00995:48:23YTGFLT4:7:2235:39783:25381,LH00995:48:23YTGFLT4:7:2383:29461:6493,LH00995:48:23YTGFLT4:8:1296:8022:16442,LH00995:48:23YTGFLT4:8:1418:28911:25942,LH00995:48:23YTGFLT4:8:2156:23361:19580,LH00995:48:23YTGFLT4:8:2251:7189:19146,LH00995:48:23YTGFLT4:8:2462:41523:14466,LH00995:48:23YTGFLT4:8:2477:44112:22201,LH00995:48:23YTGFLT4:8:2479:26006:18137

ZFYVE26

-/-

chr14:67777514

chr14:67777558

CDS/splice-site

CDS

duplication/ITD

273

low

in-frame

|FYVE_zinc_finger(100%)

ENSG00000072121.17

ENST00000678386.1

upstream

downstream

duplicates(8),mismappers(3)

CCTCACCACCCACTTCTATGGACAACTGACTGCTGTCCGACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAGGTAAGGATACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAG|GTAAGGATACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAG

LTTHFYGQLTAVRHREIQALYVGSKVRIHREIQALYVGSK|VRIHREIQALYVGS

LH00995:48:23YTGFLT4:1:1104:2958:27147,LH00995:48:23YTGFLT4:1:1104:2966:27133,LH00995:48:23YTGFLT4:2:1193:13281:13639,LH00995:48:23YTGFLT4:2:2255:5611:16021,LH00995:48:23YTGFLT4:2:2476:3783:20701,LH00995:48:23YTGFLT4:3:1327:29744:2247,LH00995:48:23YTGFLT4:3:1444:13224:26460,LH00995:48:23YTGFLT4:3:2277:43845:8679,LH00995:48:23YTGFLT4:4:1316:13669:24429,LH00995:48:23YTGFLT4:5:2129:14818:15152,LH00995:48:23YTGFLT4:5:2190:41385:18852,LH00995:48:23YTGFLT4:7:1275:26581:25998,LH00995:48:23YTGFLT4:7:1402:9009:22635,LH00995:48:23YTGFLT4:8:2176:50495:24064,LH00995:48:23YTGFLT4:8:2239:23110:1490,LH00995:48:23YTGFLT4:1:1104:2958:27147,LH00995:48:23YTGFLT4:1:1104:2966:27133,LH00995:48:23YTGFLT4:2:1193:13281:13639,LH00995:48:23YTGFLT4:2:2255:5611:16021,LH00995:48:23YTGFLT4:2:2476:3783:20701,LH00995:48:23YTGFLT4:3:1327:29744:2247,LH00995:48:23YTGFLT4:3:1444:13224:26460,LH00995:48:23YTGFLT4:3:2277:43845:8679,LH00995:48:23YTGFLT4:4:1316:13669:24429,LH00995:48:23YTGFLT4:5:2129:14818:15152,LH00995:48:23YTGFLT4:5:2190:41385:18852,LH00995:48:23YTGFLT4:7:1275:26581:25998,LH00995:48:23YTGFLT4:7:1402:9009:22635,LH00995:48:23YTGFLT4:8:2176:50495:24064,LH00995:48:23YTGFLT4:8:2239:23110:1490

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

3235

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(6),mismatches(1)

TCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGCGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATGGGAACTCAAACAAGTCATTCCTCCTAAGGAGC

SSTSGAVSASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqdgnsnksfllr

LH00995:48:23YTGFLT4:4:1405:4179:13373,LH00995:48:23YTGFLT4:4:2191:47639:13653,LH00995:48:23YTGFLT4:5:1240:47558:9113,LH00995:48:23YTGFLT4:5:2196:27098:9379,LH00995:48:23YTGFLT4:5:2465:48197:18487,LH00995:48:23YTGFLT4:8:1333:31960:8413,LH00995:48:23YTGFLT4:8:2112:40754:2317,LH00995:48:23YTGFLT4:8:2497:2157:7376,LH00995:48:23YTGFLT4:1:1452:43343:28184,LH00995:48:23YTGFLT4:1:1452:43359:28184,LH00995:48:23YTGFLT4:1:2231:25391:10150,LH00995:48:23YTGFLT4:1:2413:32454:17170,LH00995:48:23YTGFLT4:1:2445:9260:9786,LH00995:48:23YTGFLT4:2:1375:37227:9323,LH00995:48:23YTGFLT4:3:1383:22471:18431,LH00995:48:23YTGFLT4:3:2254:43254:25564,LH00995:48:23YTGFLT4:4:1123:50058:2794,LH00995:48:23YTGFLT4:4:1379:49629:8497,LH00995:48:23YTGFLT4:4:2237:36596:28324,LH00995:48:23YTGFLT4:4:2291:41240:29361,LH00995:48:23YTGFLT4:4:2495:32195:12854,LH00995:48:23YTGFLT4:5:1187:37567:21094,LH00995:48:23YTGFLT4:7:1120:23175:13793,LH00995:48:23YTGFLT4:7:2216:9875:15419,LH00995:48:23YTGFLT4:8:1459:11436:2065

TMEM8B

FP236383.3

+/+

chr9:35829841

chr21:8399952

CDS

intron

translocation

3744

8638

low

out-of-frame

ENSG00000137103.20

ENSG00000280441.3

ENST00000643932.2

downstream

upstream

duplicates(21),mismatches(13)

CTGCAGTCCCCATCACAGCCCTTCCTTCCATCCCACTCCCTGCCCTTGTTCAAGCCCCAGTGTCCAGCCCAGCCCAACCCATTATCTCAGCCTTTGCCCTCATCTCTGTGTTTACCCAAGTCTCTCCCTCTAG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LQSPSQPFLPSHSLPLFKPQCPAQPNPLSQPLPSSLCLPKSLPL|aprplslslp

LH00995:48:23YTGFLT4:1:1146:28150:8427,LH00995:48:23YTGFLT4:1:1164:15586:10767,LH00995:48:23YTGFLT4:1:1329:14543:13163,LH00995:48:23YTGFLT4:1:2287:13459:24597,LH00995:48:23YTGFLT4:1:2376:15756:2681,LH00995:48:23YTGFLT4:1:2498:24267:10052,LH00995:48:23YTGFLT4:2:1327:13362:17731,LH00995:48:23YTGFLT4:2:1368:37178:3046,LH00995:48:23YTGFLT4:2:1495:8152:12350,LH00995:48:23YTGFLT4:2:2167:26346:24751,LH00995:48:23YTGFLT4:2:2175:2359:1869,LH00995:48:23YTGFLT4:2:2219:23369:20883,LH00995:48:23YTGFLT4:2:2257:27438:19020,LH00995:48:23YTGFLT4:2:2312:35342:20911,LH00995:48:23YTGFLT4:2:2333:25416:26783,LH00995:48:23YTGFLT4:2:2475:25683:9786,LH00995:48:23YTGFLT4:3:1141:50584:5190,LH00995:48:23YTGFLT4:3:2178:38813:11453,LH00995:48:23YTGFLT4:3:2229:11857:1897,LH00995:48:23YTGFLT4:3:2457:46037:7151,LH00995:48:23YTGFLT4:4:2292:2278:23588,LH00995:48:23YTGFLT4:4:2343:35787:19048,LH00995:48:23YTGFLT4:5:1134:27802:29487,LH00995:48:23YTGFLT4:5:1170:35059:15012,LH00995:48:23YTGFLT4:5:1172:38141:15643,LH00995:48:23YTGFLT4:5:1210:15700:7852,LH00995:48:23YTGFLT4:5:1258:46223:13947,LH00995:48:23YTGFLT4:5:1462:13612:4321,LH00995:48:23YTGFLT4:5:2101:15724:21234,LH00995:48:23YTGFLT4:5:2302:16606:16624,LH00995:48:23YTGFLT4:5:2389:27260:3298,LH00995:48:23YTGFLT4:6:1127:28862:10865,LH00995:48:23YTGFLT4:6:1132:30423:7712,LH00995:48:23YTGFLT4:6:1160:32778:1897,LH00995:48:23YTGFLT4:6:2109:28368:5554,LH00995:48:23YTGFLT4:6:2135:31192:25662,LH00995:48:23YTGFLT4:6:2135:31200:25648,LH00995:48:23YTGFLT4:6:2364:29453:15419,LH00995:48:23YTGFLT4:7:1279:30537:26096,LH00995:48:23YTGFLT4:7:1302:37308:14144,LH00995:48:23YTGFLT4:7:1314:3556:16834,LH00995:48:23YTGFLT4:7:1331:18944:6241,LH00995:48:23YTGFLT4:7:1331:18952:6227,LH00995:48:23YTGFLT4:7:1331:18960:6213,LH00995:48:23YTGFLT4:7:2277:10708:4335,LH00995:48:23YTGFLT4:8:1235:9106:19328,LH00995:48:23YTGFLT4:8:2162:13604:8791,LH00995:48:23YTGFLT4:8:2213:38368:26320,LH00995:48:23YTGFLT4:8:2351:35819:4699,LH00995:48:23YTGFLT4:8:2424:4479:14872

POLR2A

FP236383.3

+/+

chr17:7513253

chr21:8399953

CDS

intron

translocation

21774

8638

low

out-of-frame

RNA_polymerase_Rpb1_C-terminal_repeat_(16%),RNA_polymerase_Rpb1__domain_1(100%),RNA_polymerase_Rpb1__domain_2(100%),RNA_polymerase_Rpb1__domain_3(100%),RNA_polymerase_Rpb1__domain_4(100%),RNA_polymerase_Rpb1__domain_5(100%),RNA_polymerase_Rpb1__domain_6(100%),RNA_polymerase_Rpb1__domain_7(100%)|

ENSG00000181222.19

ENSG00000280441.3

ENST00000674977.2

downstream

upstream

duplicates(7)

TCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCC

SYSPTSPSYSPTSPNYSPTSPSYSPTSPSYSPTSPSYSPTSPS|papslsls

LH00995:48:23YTGFLT4:1:1414:24493:13639,LH00995:48:23YTGFLT4:1:1441:25149:18726,LH00995:48:23YTGFLT4:1:2119:19664:21108,LH00995:48:23YTGFLT4:3:1166:38942:14059,LH00995:48:23YTGFLT4:3:1350:1461:3200,LH00995:48:23YTGFLT4:3:1449:48060:23406,LH00995:48:23YTGFLT4:4:1180:4665:27637,LH00995:48:23YTGFLT4:4:1230:4123:2205,LH00995:48:23YTGFLT4:5:2313:39363:13639,LH00995:48:23YTGFLT4:5:2371:1744:5344,LH00995:48:23YTGFLT4:6:1109:16606:14522,LH00995:48:23YTGFLT4:6:1240:44735:8455,LH00995:48:23YTGFLT4:7:1138:27438:4139,LH00995:48:23YTGFLT4:7:1309:8273:21108,LH00995:48:23YTGFLT4:7:2158:20740:12854,LH00995:48:23YTGFLT4:7:2291:42979:6451,LH00995:48:23YTGFLT4:8:2121:4940:17689,LH00995:48:23YTGFLT4:8:2272:10530:13611,LH00995:48:23YTGFLT4:8:2426:34460:26923,LH00995:48:23YTGFLT4:8:2490:7302:23434

PER1

FP236383.3

-/-

+/+

chr17:8143689

chr21:8399955

CDS

intron

translocation

10425

8638

low

out-of-frame

PAS_fold(100%)|

ENSG00000179094.16

ENSG00000280441.3

ENST00000317276.9

upstream

duplicates(4)

TCACGCCACCACCAGAACCCTCGGGCTGAAGCGCCCTGCTATGTCTCACACCCCTCACCCGTGCCACCCTCCACCCCCTGGCCCACCCCACCAGCCACTACCCCCTTCCCAGCGGTTGTCCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCC

SRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQP|ralslsls

LH00995:48:23YTGFLT4:1:1245:34760:22565,LH00995:48:23YTGFLT4:1:1319:11703:21332,LH00995:48:23YTGFLT4:1:1354:31944:10626,LH00995:48:23YTGFLT4:1:2188:48132:8539,LH00995:48:23YTGFLT4:1:2355:43950:26320,LH00995:48:23YTGFLT4:2:2423:30617:22425,LH00995:48:23YTGFLT4:3:1210:37057:16932,LH00995:48:23YTGFLT4:3:1231:9648:5470,LH00995:48:23YTGFLT4:3:2145:6534:21458,LH00995:48:23YTGFLT4:3:2190:39953:7320,LH00995:48:23YTGFLT4:3:2292:38958:6493,LH00995:48:23YTGFLT4:4:1426:6647:23308,LH00995:48:23YTGFLT4:6:2229:24210:2864,LH00995:48:23YTGFLT4:6:2376:43375:3466,LH00995:48:23YTGFLT4:7:2205:6016:28660,LH00995:48:23YTGFLT4:8:1228:19842:28366,LH00995:48:23YTGFLT4:8:2424:5401:6044

WBP2

FP236383.3

-/-

+/+

chr17:75846715

chr21:8399954

3'UTR

intron

translocation

4714

8638

low

stop-codon

GRAM_domain(100%)|

ENSG00000132471.12

ENSG00000280441.3

ENST00000591399.5

upstream

duplicates(6),mismatches(1)

CGCCAGCGCCTATTACAACCCAGGCAATCCTCACAACGTCTACATGCCCACG___AGCCAGCCGCCGCCACCTCCCTACTACCCACCGGAAGATAAGAAGACCCAGTAGGCCCTCCTGCCTCCCTGCC|CCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1115:3840:11691,LH00995:48:23YTGFLT4:2:2151:14138:8567,LH00995:48:23YTGFLT4:2:2267:45851:29137,LH00995:48:23YTGFLT4:3:2427:43966:23882,LH00995:48:23YTGFLT4:3:2427:43974:23896,LH00995:48:23YTGFLT4:4:1247:17900:24330,LH00995:48:23YTGFLT4:4:1325:23765:15461,LH00995:48:23YTGFLT4:4:1335:4980:2597,LH00995:48:23YTGFLT4:4:1490:36151:9197,LH00995:48:23YTGFLT4:5:1141:44047:17913,LH00995:48:23YTGFLT4:5:2126:16225:15349,LH00995:48:23YTGFLT4:5:2187:21694:10697,LH00995:48:23YTGFLT4:5:2498:33975:24429,LH00995:48:23YTGFLT4:5:2498:34226:26320,LH00995:48:23YTGFLT4:6:1284:4252:23252,LH00995:48:23YTGFLT4:6:1284:6250:21304,LH00995:48:23YTGFLT4:6:1467:5433:10837,LH00995:48:23YTGFLT4:6:1484:42057:8328,LH00995:48:23YTGFLT4:8:2263:31524:4685,LH00995:48:23YTGFLT4:8:2263:31532:4671

NPIPB3

FP236383.3

-/-

+/+

chr16:21404893

chr21:8399951

CDS

intron

translocation

21489

8638

low

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000169246.16

ENSG00000280441.3

ENST00000504841.6

upstream

duplicates(61),mismatches(70),multimappers(13)

CCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTACTCAC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

SADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLt|pralslsls

LH00995:48:23YTGFLT4:1:1187:13192:1434,LH00995:48:23YTGFLT4:1:1206:16670:19482,LH00995:48:23YTGFLT4:1:1247:5320:2625,LH00995:48:23YTGFLT4:1:1247:5320:2625,LH00995:48:23YTGFLT4:1:1247:5320:2625,LH00995:48:23YTGFLT4:1:1247:5320:2625,LH00995:48:23YTGFLT4:1:1476:12277:3887,LH00995:48:23YTGFLT4:1:2118:26411:12084,LH00995:48:23YTGFLT4:1:2151:51190:27679,LH00995:48:23YTGFLT4:1:2151:51207:27679,LH00995:48:23YTGFLT4:1:2188:36612:12266,LH00995:48:23YTGFLT4:1:2276:14300:13247,LH00995:48:23YTGFLT4:1:2279:22681:24036,LH00995:48:23YTGFLT4:1:2279:22681:24036,LH00995:48:23YTGFLT4:1:2281:45827:17268,LH00995:48:23YTGFLT4:1:2281:6097:9379,LH00995:48:23YTGFLT4:1:2331:6032:9435,LH00995:48:23YTGFLT4:1:2331:6040:9449,LH00995:48:23YTGFLT4:1:2339:1663:29053,LH00995:48:23YTGFLT4:1:2360:34056:2597,LH00995:48:23YTGFLT4:1:2361:8224:21136,LH00995:48:23YTGFLT4:1:2380:14300:28969,LH00995:48:23YTGFLT4:1:2414:17123:22117,LH00995:48:23YTGFLT4:1:2491:29501:22313,LH00995:48:23YTGFLT4:2:1158:42397:18501,LH00995:48:23YTGFLT4:2:1169:22293:12910,LH00995:48:23YTGFLT4:2:1191:47704:28002,LH00995:48:23YTGFLT4:2:1198:38165:7193,LH00995:48:23YTGFLT4:2:1294:4592:13555,LH00995:48:23YTGFLT4:2:1366:46903:28576,LH00995:48:23YTGFLT4:2:1405:42138:6731,LH00995:48:23YTGFLT4:2:1405:42138:6731,LH00995:48:23YTGFLT4:2:1405:42138:6731,LH00995:48:23YTGFLT4:2:1405:42138:6731,LH00995:48:23YTGFLT4:2:1437:50187:18123,LH00995:48:23YTGFLT4:2:2101:36734:8581,LH00995:48:23YTGFLT4:2:2158:37332:29375,LH00995:48:23YTGFLT4:2:2172:49872:1350,LH00995:48:23YTGFLT4:2:2204:5263:12196,LH00995:48:23YTGFLT4:2:2220:14397:27287,LH00995:48:23YTGFLT4:2:2301:36839:3718,LH00995:48:23YTGFLT4:2:2310:44346:25073,LH00995:48:23YTGFLT4:2:2310:7699:14452,LH00995:48:23YTGFLT4:2:2310:7715:14452,LH00995:48:23YTGFLT4:2:2312:38125:14634,LH00995:48:23YTGFLT4:2:2318:4285:25578,LH00995:48:23YTGFLT4:2:2378:4042:7670,LH00995:48:23YTGFLT4:2:2389:48132:27679,LH00995:48:23YTGFLT4:2:2417:7917:28786,LH00995:48:23YTGFLT4:2:2475:50778:18810,LH00995:48:23YTGFLT4:3:1124:42073:6423,LH00995:48:23YTGFLT4:3:1172:16670:12476,LH00995:48:23YTGFLT4:3:1190:31653:21360,LH00995:48:23YTGFLT4:3:1257:30229:2023,LH00995:48:23YTGFLT4:3:1333:48796:7978,LH00995:48:23YTGFLT4:3:1333:48804:7992,LH00995:48:23YTGFLT4:3:1340:5749:28758,LH00995:48:23YTGFLT4:3:1450:5369:20085,LH00995:48:23YTGFLT4:3:1460:13661:2695,LH00995:48:23YTGFLT4:3:2101:17851:6423,LH00995:48:23YTGFLT4:3:2106:31168:8749,LH00995:48:23YTGFLT4:3:2173:32883:24863,LH00995:48:23YTGFLT4:3:2263:32502:3971,LH00995:48:23YTGFLT4:3:2302:27859:14648,LH00995:48:23YTGFLT4:3:2361:51724:12770,LH00995:48:23YTGFLT4:3:2407:43141:23770,LH00995:48:23YTGFLT4:3:2423:16007:2247,LH00995:48:23YTGFLT4:3:2423:16007:2247,LH00995:48:23YTGFLT4:3:2444:21484:11846,LH00995:48:23YTGFLT4:3:2448:4276:12896,LH00995:48:23YTGFLT4:3:2456:24526:12574,LH00995:48:23YTGFLT4:4:1132:28975:10556,LH00995:48:23YTGFLT4:4:1139:40455:9926,LH00995:48:23YTGFLT4:4:1141:50470:26853,LH00995:48:23YTGFLT4:4:1278:27616:9800,LH00995:48:23YTGFLT4:4:1285:12528:11495,LH00995:48:23YTGFLT4:4:1343:40617:29571,LH00995:48:23YTGFLT4:4:1413:18992:7109,LH00995:48:23YTGFLT4:4:2154:11444:24527,LH00995:48:23YTGFLT4:4:2180:13669:4475,LH00995:48:23YTGFLT4:4:2223:17188:23798,LH00995:48:23YTGFLT4:4:2433:47453:20841,LH00995:48:23YTGFLT4:4:2440:40665:26825,LH00995:48:23YTGFLT4:5:1143:51336:12882,LH00995:48:23YTGFLT4:5:1161:8629:4545,LH00995:48:23YTGFLT4:5:1214:16242:9828,LH00995:48:23YTGFLT4:5:1233:36337:20421,LH00995:48:23YTGFLT4:5:1292:22778:5708,LH00995:48:23YTGFLT4:5:1317:30399:15461,LH00995:48:23YTGFLT4:5:1404:34428:11313,LH00995:48:23YTGFLT4:5:1433:51352:7754,LH00995:48:23YTGFLT4:5:1441:30278:13989,LH00995:48:23YTGFLT4:5:1441:30278:13989,LH00995:48:23YTGFLT4:5:2104:18102:11229,LH00995:48:23YTGFLT4:5:2158:28093:25059,LH00995:48:23YTGFLT4:5:2167:26581:28464,LH00995:48:23YTGFLT4:5:2249:43335:9225,LH00995:48:23YTGFLT4:5:2249:43335:9225,LH00995:48:23YTGFLT4:5:2290:38319:11467,LH00995:48:23YTGFLT4:5:2335:48682:14452,LH00995:48:23YTGFLT4:5:2448:46943:25984,LH00995:48:23YTGFLT4:5:2448:46943:25984,LH00995:48:23YTGFLT4:5:2448:46943:25984,LH00995:48:23YTGFLT4:5:2448:46943:25984,LH00995:48:23YTGFLT4:6:1134:47744:1392,LH00995:48:23YTGFLT4:6:1141:46183:2051,LH00995:48:23YTGFLT4:6:1180:27689:26488,LH00995:48:23YTGFLT4:6:1218:12658:28674,LH00995:48:23YTGFLT4:6:1220:26362:16231,LH00995:48:23YTGFLT4:6:1245:4616:21192,LH00995:48:23YTGFLT4:6:1350:13596:8777,LH00995:48:23YTGFLT4:6:1350:13604:8763,LH00995:48:23YTGFLT4:6:1414:23692:18361,LH00995:48:23YTGFLT4:6:1480:39290:24975,LH00995:48:23YTGFLT4:6:2103:5328:20295,LH00995:48:23YTGFLT4:6:2144:18539:3298,LH00995:48:23YTGFLT4:6:2173:9349:2261,LH00995:48:23YTGFLT4:6:2234:14373:27890,LH00995:48:23YTGFLT4:6:2303:3152:6353,LH00995:48:23YTGFLT4:6:2357:25011:17478,LH00995:48:23YTGFLT4:6:2417:33368:7039,LH00995:48:23YTGFLT4:7:1193:18814:21458,LH00995:48:23YTGFLT4:7:1194:39395:27315,LH00995:48:23YTGFLT4:7:1224:1947:17212,LH00995:48:23YTGFLT4:7:1227:44047:18361,LH00995:48:23YTGFLT4:7:1245:45333:9604,LH00995:48:23YTGFLT4:7:1263:32972:28044,LH00995:48:23YTGFLT4:7:1322:27042:21836,LH00995:48:23YTGFLT4:7:1352:16144:27539,LH00995:48:23YTGFLT4:7:1381:2254:19706,LH00995:48:23YTGFLT4:7:1381:24542:23644,LH00995:48:23YTGFLT4:7:1443:37680:11369,LH00995:48:23YTGFLT4:7:1445:28692:2191,LH00995:48:23YTGFLT4:7:2237:6299:17520,LH00995:48:23YTGFLT4:7:2283:36758:2289,LH00995:48:23YTGFLT4:7:2318:11646:6465,LH00995:48:23YTGFLT4:7:2468:6250:18389,LH00995:48:23YTGFLT4:7:2477:42599:19496,LH00995:48:23YTGFLT4:8:1207:40317:18291,LH00995:48:23YTGFLT4:8:1234:5223:6100,LH00995:48:23YTGFLT4:8:1313:42591:3340,LH00995:48:23YTGFLT4:8:1331:7189:10318,LH00995:48:23YTGFLT4:8:1331:7197:10304,LH00995:48:23YTGFLT4:8:1362:15651:14130,LH00995:48:23YTGFLT4:8:1374:3775:4209,LH00995:48:23YTGFLT4:8:2145:36782:19118,LH00995:48:23YTGFLT4:8:2147:15133:5442,LH00995:48:23YTGFLT4:8:2194:46175:4951,LH00995:48:23YTGFLT4:8:2210:44144:12616,LH00995:48:23YTGFLT4:8:2268:18830:12770,LH00995:48:23YTGFLT4:8:2310:33700:26755,LH00995:48:23YTGFLT4:8:2394:29016:25255,LH00995:48:23YTGFLT4:8:2424:29177:11888,LH00995:48:23YTGFLT4:8:2434:25674:5680,LH00995:48:23YTGFLT4:8:2477:22964:17969,LH00995:48:23YTGFLT4:8:2485:2731:27567

PCDHB14

PCDHB15

+/+

chr5:141223541

chr5:141245484

CDS/splice-site

5'UTR

deletion/read-through

314

160

low

out-of-frame

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

ENSG00000120327.7

ENSG00000113248.6

ENST00000239449.7

ENST00000231173.6

downstream

upstream

duplicates(3)

CTCCAGGGGGTTCCTGTTAAAAACCAGAGCTTCAGCTTCCAAAATTACGGCTGAGCTTCAGTTTTTCCACAAGAGATTGCCTAAAGGAACCATGGAGATCAGAGGGGCACTCGATCTGCGAAAAAGG|TTATCAACGCACAGATCGATCACTGCCTCTGTCCCATCGCTCCCTGAAGTAGCTCTGACTCCGGTTCCTTGAAAGGGGCGTGTACAGAAGTAAAGATGGA

MEIRGALDLRKR|lsthrsitasvpslpevaltpvp*

LH00995:48:23YTGFLT4:1:1158:42655:11019,LH00995:48:23YTGFLT4:5:1491:35188:24457,LH00995:48:23YTGFLT4:6:2430:26605:3508,LH00995:48:23YTGFLT4:4:1329:7092:19706,LH00995:48:23YTGFLT4:8:1305:3605:2149,LH00995:48:23YTGFLT4:8:2186:31637:25648,LH00995:48:23YTGFLT4:8:2218:34881:23784,LH00995:48:23YTGFLT4:8:2218:34897:23784,LH00995:48:23YTGFLT4:8:2356:20287:21710

ARL17B

KANSL1

-/-

chr17:46352820

chr17:46094701

CDS/splice-site

deletion/read-through

2322

1853

low

out-of-frame

ADP-ribosylation_factor_family(96%)|PEHE_domain(100%)

ENSG00000228696.10

ENSG00000120071.15

ENST00000570618.5

ENST00000574590.6

upstream

downstream

duplicates(4),mismatches(1)

GTTTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAA

FCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTK|gdagqngnglqtgqllsaagtgfrlmfltwniefvskqtft

LH00995:48:23YTGFLT4:1:2131:19203:9996,LH00995:48:23YTGFLT4:2:1482:10651:16876,LH00995:48:23YTGFLT4:2:2481:19227:19230,LH00995:48:23YTGFLT4:5:2355:4883:5064,LH00995:48:23YTGFLT4:6:1294:8216:3859,LH00995:48:23YTGFLT4:6:2334:47380:13457,LH00995:48:23YTGFLT4:1:1348:45697:7263,LH00995:48:23YTGFLT4:3:1488:16055:24078,LH00995:48:23YTGFLT4:6:1236:20602:17829,LH00995:48:23YTGFLT4:6:1252:39007:27651,LH00995:48:23YTGFLT4:6:2442:41628:20645,LH00995:48:23YTGFLT4:7:2140:9203:14844,LH00995:48:23YTGFLT4:7:2333:31985:10809

ARL17B

KANSL1

-/-

chr17:46339509

chr17:46094701

CDS/splice-site

deletion/read-through

2790

1853

low

ADP-ribosylation_factor-like_protein_17(98%),ADP-ribosylation_factor_family(96%)|PEHE_domain(100%)

ENSG00000228696.10

ENSG00000120071.15

ENST00000572991.5

ENST00000574590.6

upstream

downstream

mismatches(1)

GTGGTCAGCTGGACTCCATACTCCCCCACCAGTCACCAGCCTGGGGACCGTGGGGCTGCAAGGACCTCAGCAGCGGTTTCCCAAGTTTCCTGACTTCTTCCATCCTCTGGAAATCAGCTGTG|GAGACGCAGGTCAGAATGGAAATGGGC

LH00995:48:23YTGFLT4:8:1104:11072:16091

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

477

447

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)

CCAGCAATCATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGG

SNHAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvs

LH00995:48:23YTGFLT4:1:1322:35027:19160,LH00995:48:23YTGFLT4:5:1192:40932:10725,LH00995:48:23YTGFLT4:5:2111:9761:13317,LH00995:48:23YTGFLT4:6:1179:24720:19664,LH00995:48:23YTGFLT4:6:1406:5231:17296,LH00995:48:23YTGFLT4:7:1398:37510:16792,LH00995:48:23YTGFLT4:7:1398:37526:16792,LH00995:48:23YTGFLT4:7:1398:37534:16778,LH00995:48:23YTGFLT4:7:1398:37534:16806,LH00995:48:23YTGFLT4:7:1398:37543:16820,LH00995:48:23YTGFLT4:8:1261:27349:25395,LH00995:48:23YTGFLT4:2:1220:48424:17422,LH00995:48:23YTGFLT4:5:2136:1218:7908

C1QTNF3

AMACR

-/-

chr5:34023909

chr5:34005899

CDS/splice-site

deletion/read-through

788

447

low

out-of-frame

C1q_domain(61%),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(1)

CAGTGGGATTATCTTCAGCAGTGTTGAGACCAACATTGGAAACTTCTTTGATGTCATGACTGGTAGATTTGGGGCCCCAGTATCAG___GTGTGTATTTCTTCACCTTCAGCATGATGAAGCATGAGGATGTTGAGGAAGTGTATGTGTACCTTATGCACAATGGCAACACAGTCTTCAGCATGTACAG|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCC

SGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHEDVEEVYVYLMHNGNTVFSMYr|chgetpagprdsaagk

LH00995:48:23YTGFLT4:5:2337:35722:9660,LH00995:48:23YTGFLT4:7:1112:24971:1883

ARRDC1

EHMT1

+/+

chr9:137605835

chr9:137716626

CDS/splice-site

deletion/read-through

1641

5121

low

in-frame

Arrestin_(or_S-antigen)__N-terminal_domain(25%)|Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Pre-SET_motif(100%),SET_domain(100%)

ENSG00000197070.14

ENSG00000181090.21

ENST00000371421.9

ENST00000460843.6

downstream

upstream

duplicates(3)

GGCCGCGTCGTCTACAGCCCCGGGGAGCCGTTGGCTGGGACCGTGCGCGTGCGCCTGGGGGCACCGCTGCCGTTCCGAG|AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAACAGCGATGCCAGCAGTCATGCAAATGCTGCAAAGCAC

GRVVYSPGEPLAGTVRVRLGAPLPFR|eTPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAAK

LH00995:48:23YTGFLT4:1:1357:24243:6871,LH00995:48:23YTGFLT4:1:2445:44646:5190,LH00995:48:23YTGFLT4:3:1217:31993:27441,LH00995:48:23YTGFLT4:3:2465:28182:7278,LH00995:48:23YTGFLT4:4:1256:2788:2611,LH00995:48:23YTGFLT4:5:1169:46765:18810,LH00995:48:23YTGFLT4:5:1183:2626:27581,LH00995:48:23YTGFLT4:5:1351:37235:5526,LH00995:48:23YTGFLT4:7:2327:40050:16904

ARRDC1

EHMT1

+/+

chr9:137615000

chr9:137710967

CDS/splice-site

deletion/read-through

1068

3486

low

out-of-frame

Arrestin_(or_S-antigen)__C-terminal_domain(100%),Arrestin_(or_S-antigen)__N-terminal_domain(100%)|Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Pre-SET_motif(100%),SET_domain(100%)

ENSG00000197070.14

ENSG00000181090.21

ENST00000371421.9

ENST00000460843.6

downstream

upstream

duplicates(2),read_through(1)

TCTTGGGGCTACCCCTATG|GCAGTTCCGGCGAGGGGGGAGCCTCAGCAGGATTGCTGTGTGAAAACCGAGCTGCTGGGAGAAG___AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAAC

SWGYPY|gssgeggasagllcenraagrrdtygcr*

LH00995:48:23YTGFLT4:5:1271:20335:23756,LH00995:48:23YTGFLT4:6:1118:42809:22439,LH00995:48:23YTGFLT4:7:1302:12091:25115

ARRDC1

EHMT1

+/+

chr9:137615000

chr9:137716626

CDS/splice-site

deletion/read-through

1068

5121

low

in-frame

ENSG00000197070.14

ENSG00000181090.21

ENST00000371421.9

ENST00000460843.6

downstream

upstream

duplicates(1),read_through(1)

CCCACTACCAGCACCTTGATTCTTCCTCCAGAGTACAGTTCTTGGGGCTACCCCTATG|AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCC

PTTSTLILPPEYSSWGYPY|eTPMAADEGSAEKQAGE

LH00995:48:23YTGFLT4:6:2168:50131:17689,LH00995:48:23YTGFLT4:8:1205:24793:1462

CPS1(11818),AC012491.1(414009)

LANCL1

./-

-/-

chr2:210690925

chr2:210476412

intergenic

5'UTR/splice-site

deletion/read-through

2102

low

|Lanthionine_synthetase_C-like_protein(100%)

ENSG00000115365.12

ENST00000441020.7

upstream

downstream

duplicates(1)

CCAGTCTACAGAAT___TATGTCATCTCTGACACCTTATCTGTCTTGTTCACCACTTTATCTTCAGTGCCCAGAACAGTGTCCAGCAAATT|GCTTGCTTCCGGCGTCATGGCTCAAAGGGCCTTCCCGAATCCTTATGCTGATTATAACAAATCCCTGGCCGAAGGCTACTTTGATGCTGCCGGGAGG___CTGACTCCTGAGTTCTCACAACGCTTGACCAATAAG

LH00995:48:23YTGFLT4:4:1421:30674:3130,LH00995:48:23YTGFLT4:6:1244:42728:24176,LH00995:48:23YTGFLT4:6:1485:18450:25451,LH00995:48:23YTGFLT4:6:2310:43602:13919,LH00995:48:23YTGFLT4:7:1129:6970:12854,LH00995:48:23YTGFLT4:2:1168:33991:20925

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

167

1464

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

CTTACACAAGGCTATTGAAGATTCTTCTAAG___GCACTGGAATTATTGATGCCACCTGTTACAGACAATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGCTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGCACAGTGCTTATGGAAGAAACTGCTTATCCAGCTTTGGAGGAAACCAGC

LHKAIEDSSKALELLMPPVTDNANARMKAHVRRGTAFCQLELYVE|dlkdv*

LH00995:48:23YTGFLT4:2:2447:38772:24190,LH00995:48:23YTGFLT4:4:2470:13572:3102,LH00995:48:23YTGFLT4:6:2274:13248:12995,LH00995:48:23YTGFLT4:8:2373:36992:2275,LH00995:48:23YTGFLT4:1:1345:44346:5932

DNAAF4

CCPG1

-/-

chr15:55434905

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

172

1464

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

duplicates(2)

GCGATTTAAAAGAAGAAGAAAAGAACCCAGAATGGTTGAAGGATAAAGGAAA___CAAATTGTTTGCAACGGAAAACTATTTGGCAGCTATCAATGCATATAATTTAGCCATAAGACTAAATAATAAGATGCCACTATTGTATTTGAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCC

DLKEEEKNPEWLKDKGNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSK|t*

LH00995:48:23YTGFLT4:3:2382:51643:17899,LH00995:48:23YTGFLT4:5:1372:50341:11243,LH00995:48:23YTGFLT4:7:1378:9875:8188,LH00995:48:23YTGFLT4:1:2106:20659:14284,LH00995:48:23YTGFLT4:1:2372:41288:12742,LH00995:48:23YTGFLT4:2:2187:51441:28198

FXYD6

DSCAML1

-/-

chr11:117839781

chr11:117780810

CDS/splice-site

deletion/read-through

4708

185

low

stop-codon

ATP1G1/PLM/MAT8_family(100%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%)

ENSG00000137726.17

ENSG00000177103.15

ENST00000584394.5

ENST00000321322.6

upstream

downstream

duplicates(1)

TTCCTCTGCAGCCTGCTGGCCCCCATGGTCCTGGCCAGTG___CAGCTGAAAAGGAGAAGGAAATGGACCCTTTTCATTATG___ATTACCAGACCCTGAGGATTGGGGGACTGGTGTTCGCTGTGGTCCTCTTCTCGGTTGGGATCCTCCTTATCC...GGGCCCCAGGAGATGAGGAAGCCCAGGTGGAGAACCTCATCACCGCCAATG___CAACAGAGCCCCAGAAAGCAGAGAACTGAAGTGCAGCCATCAGGTGGAAG|CCCGCCCTGAAGATGTTGGCACCAGCCTCTACTTTGTAAATGACTCCTTGCAGCAGGTGACCTTTTCCAGCTCCGTGGGGGTGGTGGTGCCCTGCCCGGCCGCGGGCTCCCCCAGCGCGGCCCTTCGATGGTACCTGGCCACAGGGGACGACATCTACGACGTGCCGCACATCCGGCACGTCCACGCCAACGGGACGCTGCAGCTCTACCC

LH00995:48:23YTGFLT4:1:2398:40366:23055,LH00995:48:23YTGFLT4:2:1495:15683:11579,LH00995:48:23YTGFLT4:6:2110:22471:19076,LH00995:48:23YTGFLT4:5:1166:7998:1294,LH00995:48:23YTGFLT4:6:1153:16500:10612,LH00995:48:23YTGFLT4:6:1153:16509:10626

SPECC1L

ADORA2A

+/+

chr22:24369320

chr22:24440583

CDS/splice-site

deletion/read-through

1422

160

low

out-of-frame

Calponin_homology_(CH)_domain(16%)|7_transmembrane_receptor_(rhodopsin_family)(66%)

ENSG00000100014.20

ENSG00000128271.22

ENST00000437398.5

ENST00000611543.4

downstream

upstream

duplicates(2)

CACCCGAAGCCGAATAAG___...AGAGAAGAAAGGAAAGACCCTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGGTGTCAGAAGAAAACAGAAGGCTATCAG|GTACAATGGCTTGGTGACCGGCACGAGGGCTAAGGGCATCATTGCCATCTGCTGGGTGCTGTCGTTTGCCATCGGCCTGACTCCCATGCTAGGTTGGAACAACTGCGGTCAGCCAAAGGAGGGCAAGAACCACTCCCAGGGCTGC

REERKDPLSALAREYGGSKRNALLKWCQKKTEGYQ|vqwlgdrheg*

LH00995:48:23YTGFLT4:2:1280:46895:24891,LH00995:48:23YTGFLT4:3:1294:50931:20421,LH00995:48:23YTGFLT4:5:1376:38683:11705,LH00995:48:23YTGFLT4:2:2480:10611:19889,LH00995:48:23YTGFLT4:2:2498:46191:13219,LH00995:48:23YTGFLT4:3:2116:10562:21066,LH00995:48:23YTGFLT4:4:2383:8330:20365

FKBP4

AC092471.1

+/-

-/-

chr12:2796233

chr12:2771907

exon

exon/splice-site

deletion/read-through/3'-3'

198

low

ENSG00000004478.8

ENSG00000255669.2

ENST00000637160.1

upstream

downstream

duplicates(2),low_entropy(1)

AGTTCAAGTTTCCGCTGTATG___AAAACGGCAGGACGCTGGAGCGAGAAGGGGAAGTCACATGCCACAGGAGAGCCGCTGGAGCAGACGCTTGAGGTCCCCAATAATCTGGTGCAAAGACAGATGCACTTCTGGACCAG|AATGAAGAAGATACCCAGCAGATGTGTGCCAAGATTCTACAAATGGTACATACAG___GTGTCCCTGCCGGTACTCATAAACCTTCTATGCCAACCAAGCCACATCTCGGCCTTCGTGGTCCTCAGCA

LH00995:48:23YTGFLT4:3:2124:48933:8216,LH00995:48:23YTGFLT4:8:1229:31297:6479,LH00995:48:23YTGFLT4:3:2308:25990:3508,LH00995:48:23YTGFLT4:4:1442:8823:1210,LH00995:48:23YTGFLT4:7:1422:11816:21052,LH00995:48:23YTGFLT4:7:1422:11824:21066,LH00995:48:23YTGFLT4:8:1267:44176:16820,LH00995:48:23YTGFLT4:8:2157:43950:27890

GTF2H2

-/-

chr5:71048006

chr5:71055457

CDS/splice-site

duplication/non-canonical_splicing

1717

1510

low

in-frame

Ssl1-like(98%)|Ssl1-like(69%),TFIIH_C1-like_domain(100%)

ENSG00000145736.14

ENST00000274400.9

upstream

downstream

duplicates(6),mismatches(1)

GTCTGCAGAAGTTCGCGTTTGCACTGTACTTGCTCGTGAAACTGGTG___GCACGTACCATGTTATTTTAGATGAAAGCCATTACAAAGAGTTGCTCACACATCATGTTAGTCCTCCTCCTGCTAGCTCAAGTTCTGAATGCTCACTTATTCGTATGG|GAAACCCAAGAAAACATATAACGTCTTTGAAGAAAGCTGTGGATATGACCTGCCATGGAGAGCCATCTCTTTATAATTCCCTAAGCATAGCTATGCAGACTCTAAA___ACACATGCCTGGACATACAAGTCGAGAAGTACTAATCATCTTTAGCAGCC

SAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRM|gNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSS

LH00995:48:23YTGFLT4:5:1227:21160:5708,LH00995:48:23YTGFLT4:6:2291:24752:22046,LH00995:48:23YTGFLT4:7:1295:7197:12154,LH00995:48:23YTGFLT4:7:1295:7205:12140,LH00995:48:23YTGFLT4:4:2482:10004:22873,LH00995:48:23YTGFLT4:5:2258:24186:12014,LH00995:48:23YTGFLT4:6:2409:24477:13387,LH00995:48:23YTGFLT4:6:2423:8289:9029,LH00995:48:23YTGFLT4:8:1278:25780:19454,LH00995:48:23YTGFLT4:8:1384:30682:2163,LH00995:48:23YTGFLT4:8:1461:3783:5148,LH00995:48:23YTGFLT4:8:1461:3791:5162

CCDC169

SOHLH2

-/-

chr13:36248606

chr13:36202093

CDS/splice-site

deletion/read-through

low

out-of-frame

Domain_of_unknown_function_(DUF4600)(100%)|Helix-loop-helix_DNA-binding_domain(100%)

ENSG00000242715.8

ENSG00000120669.16

ENST00000379864.6

ENST00000379881.8

upstream

downstream

CTGAAATGTCTCAG___GGTTCTGGTTTACATCAAGTTTCTAAAAGGCAACAGGTGGATCAACTGCCTAGGATGCAAGAGAATCTAGTGAAAAC|GCAAAAATAGACATCTTATTAGTTGGAGATGTCACTGTGGGCTACCTGGCTGATACTGTACAGAAACTATTTGCAAACATAGCAGAAGTCACCATCACCATCAGTGACACGAAGGAGG

EMSQGSGLHQVSKRQQVDQLPRMQENLVKt|qk*

LH00995:48:23YTGFLT4:7:1340:37502:11005,LH00995:48:23YTGFLT4:8:1257:24510:24148,LH00995:48:23YTGFLT4:8:1336:38311:26250,LH00995:48:23YTGFLT4:3:2327:20715:11719

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

596

low

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000444932.1

ENST00000430487.6

downstream

upstream

GGAAGATAGATCGGCTTCCAGACAAAAATcCAA___TTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTA

LH00995:48:23YTGFLT4:2:2391:37421:29613,LH00995:48:23YTGFLT4:6:2306:33263:22943,LH00995:48:23YTGFLT4:2:1439:30108:4447,LH00995:48:23YTGFLT4:7:2138:13661:15419

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

596

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(100%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

duplicates(2)

AGATCGGCTTCCAGACAAAAATTCAA___GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCA

DRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTL

LH00995:48:23YTGFLT4:4:1145:17706:18950,LH00995:48:23YTGFLT4:4:1145:17714:18964,LH00995:48:23YTGFLT4:4:2372:28757:14438,LH00995:48:23YTGFLT4:7:1124:29550:3480,LH00995:48:23YTGFLT4:7:2383:25416:16638,LH00995:48:23YTGFLT4:8:2258:26297:4489

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

332

low

out-of-frame

Adaptor_complexes_medium_subunit_family(63%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(1)

GCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGC

AKMNRRACLGSLQELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:2:1177:36094:29725,LH00995:48:23YTGFLT4:2:1349:18280:5596,LH00995:48:23YTGFLT4:2:2349:26249:22845

AL512590.2

CCDC180

+/+

chr9:97290902

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(2)

CCGGCCTCGTCGGAGAGCATG___GTGGCCATTGCAAGGTACTCTGGCTGGCAAATAGCCTATATTCTGTGGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCcTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGCGGGCTGCAGAGCGTTCTGTGACCCTGAAGAGTGGCAGGATACCCATGATGAAGAAGGTGG

LH00995:48:23YTGFLT4:1:1451:9219:24849,LH00995:48:23YTGFLT4:1:2436:6436:11117,LH00995:48:23YTGFLT4:2:1463:36499:7950,LH00995:48:23YTGFLT4:2:1463:36507:7936,LH00995:48:23YTGFLT4:4:2175:33117:23924,LH00995:48:23YTGFLT4:8:2415:24890:13373

AL512590.2

CCDC180

+/+

chr9:97294991

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(1)

GCCACATCCTGATCACAAATCACAGGGAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAG

LH00995:48:23YTGFLT4:5:2283:2189:13709,LH00995:48:23YTGFLT4:6:1205:31208:25858,LH00995:48:23YTGFLT4:6:1209:35035:23546,LH00995:48:23YTGFLT4:8:1182:39581:4125

AL512590.2

CCDC180

+/+

chr9:97291487

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

GGAAATGCTGCAAGGGCTGGGCATTGGGAT|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCA

LH00995:48:23YTGFLT4:5:1241:42453:3270

ZNF547

ZNF548(7888),ZNF17(281)

+/+

./+

chr19:57371908

chr19:57410880

CDS/splice-site

intergenic

deletion/read-through

209

low

out-of-frame

KRAB_box(98%)|

ENSG00000152433.15

ENST00000282282.4

downstream

upstream

duplicates(1)

CTCAGAGATTGCTGTACCGTGATGTGATGCTGGAGAATTTGGCCCTTTTGTCCTCACTAG|ACTGCCTTCCGGGAAAATCTGGATGCTTGCCGTTTAAAAGCCAATGAAGCCCCTCCACGTCCTTG

QRLLYRDVMLENLALLSSL|dclpgksgclpfksq*

LH00995:48:23YTGFLT4:1:2465:43626:23966,LH00995:48:23YTGFLT4:1:2465:43634:23952,LH00995:48:23YTGFLT4:7:2279:43367:7992,LH00995:48:23YTGFLT4:8:2480:33271:17829

SLC29A3

CDH23

+/+

chr10:71356243

chr10:71439827

CDS/splice-site

5'UTR/splice-site

deletion/read-through

320

851

low

Nucleoside_transporter(28%)|Cadherin_domain(100%)

ENSG00000198246.9

ENSG00000107736.22

ENST00000373189.6

ENST00000224721.12

downstream

upstream

duplicates(2),mismappers(1)

GGAACAGCGCCCTGGCCTTCTTCCTGACGGCCACcaTCTTCCTCGTGCTCTGCATGGGACTCTACCTGCTGCTGTCCAGGCTGGAGTATGCCAG|GAGCCATGGGGCGCCATGTTGCCACCAGCTGCCACGTGGCCTGGCTTTTGGTGCTGATCTCTGGATGCTGGG___GCCAGGTGAACCGGCTGCCCTTCTTCACCAACCACTTCTTTGATACATACCTGC

LH00995:48:23YTGFLT4:5:2348:41604:17577,LH00995:48:23YTGFLT4:1:2192:8766:2177,LH00995:48:23YTGFLT4:4:2488:45236:6072,LH00995:48:23YTGFLT4:5:1169:20586:25339,LH00995:48:23YTGFLT4:7:1289:19567:10711,LH00995:48:23YTGFLT4:8:1156:11024:13597

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

730

low

in-frame

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

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(4)

GCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACC

PPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSAT

LH00995:48:23YTGFLT4:1:1328:18539:4419,LH00995:48:23YTGFLT4:3:1486:30383:21318,LH00995:48:23YTGFLT4:3:2167:50842:24022,LH00995:48:23YTGFLT4:4:2294:43295:15405,LH00995:48:23YTGFLT4:6:1119:19089:23280,LH00995:48:23YTGFLT4:6:1237:37478:20883,LH00995:48:23YTGFLT4:8:2285:51838:10809

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

730

low

in-frame

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

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(4)

PPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSAT

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

730

low

in-frame

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

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(4)

PPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSAT

WNK3

-/-

chrX:54248697

chrX:54259338

CDS/splice-site

duplication/non-canonical_splicing

117

low

in-frame

Oxidative-stress-responsive_kinase_1_C-terminal_domain(100%),Protein_kinase_domain(100%)|

ENSG00000196632.10

ENST00000375169.7

upstream

downstream

duplicates(1)

TCTGTCCAATGTGGCTGCAAGTCAGCCTGCTAATATATCAGTGTTCAAAAGGGACCTGAATGTGATAACTTCTGTACCCAGCGAATTGTGTTTACAT|CCTGTATCCCAACCAGTTGGAGCTGAACAACAAGCAGCTCTTCTAAAACCAGATTTAGTTCGAAG___CTTGAATCAAGATGTGGCAACTACGAAGGAAAACGTCAGTAGCCCTGATAACCCAAGTGGAAATGGC

LSNVAASQPANISVFKRDLNVITSVPSELCLH|PVSQPVGAEQQAALLKPDLVRSLNQDVATTKENVSSPDNPSGN

LH00995:48:23YTGFLT4:2:1252:23353:4713,LH00995:48:23YTGFLT4:2:2297:50875:20827,LH00995:48:23YTGFLT4:3:2441:3103:29669,LH00995:48:23YTGFLT4:6:1143:39508:21206

SLC45A3

ELK4

-/-

chr1:205661861

chr1:205623891

CDS/splice-site

5'UTR/splice-site

deletion/read-through

502

1094

low

in-frame

Major_Facilitator_Superfamily(100%)|Ets-domain(100%)

ENSG00000158715.6

ENSG00000158711.14

ENST00000367145.4

ENST00000616704.4

upstream

downstream

GACAGCTTCAGCCGCCCTCACCGGGTTCACCTTCTCAGCCCTGCAGATCCTGCCCTACACACTGGCCTCCCTCTACCACCGGGAGAAGCAG|CTCATTGCTATGGACAGTGCTATCACCCTGTGGCAGTTCCTTCTTCAGCTCCTGCAGAAGCCTCAGAACAAGCACATGATCTGTTGGACCTCTAATGATG

TASAALTGFTFSALQILPYTLASLYHREKQ|liaMDSAITLWQFLLQLLQKPQNKHMICWTSND

LH00995:48:23YTGFLT4:3:1403:16331:13877,LH00995:48:23YTGFLT4:2:2363:27713:29193,LH00995:48:23YTGFLT4:4:2395:2076:10402

SLC45A3

ELK4

-/-

chr1:205680394

chr1:205623891

5'UTR/splice-site

deletion/read-through

1094

low

|Ets-domain(100%)

ENSG00000158715.6

ENSG00000158711.14

ENST00000367145.4

ENST00000616704.4

upstream

downstream

CCGGGTGACAGCCGCGCGCCTCGGCCAG|CTCATTGCTATGGACAGTGCTATCACCCTGTGGCAGTTCCTTCTTCAGCTCCTGCAGAAGCCTCAGAACAAGCACATGATCT

LH00995:48:23YTGFLT4:2:2213:4398:8567

HELB

+/+

chr12:66325126

chr12:66306345

CDS/splice-site

duplication/non-canonical_splicing

120

119

low

stop-codon

AAA_domain(100%),UvrD-like_helicase_C-terminal_domain(23%)|AAA_domain(100%),UvrD-like_helicase_C-terminal_domain(100%)

ENSG00000127311.10

ENST00000545134.1

downstream

upstream

duplicates(3)

TCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTG___GATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTGACCATTAATAATATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTCGCATAAAACATGCATGGGCAAGAACTATTCACACTTTTCAG|TTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAATTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGTTGAAAG

LH00995:48:23YTGFLT4:5:1428:47048:9716,LH00995:48:23YTGFLT4:2:1358:31532:2149,LH00995:48:23YTGFLT4:2:1358:31548:2149,LH00995:48:23YTGFLT4:3:1188:27665:15545,LH00995:48:23YTGFLT4:3:1188:27673:15559,LH00995:48:23YTGFLT4:6:1146:52016:18459

ZNF528

ZNF610(1782),ZNF880(357)

+/+

./+

chr19:52406643

chr19:52369560

CDS/splice-site

intergenic

duplication

1319

low

out-of-frame

KRAB_box(100%)|

ENSG00000167555.14

ENST00000391788.6

downstream

upstream

duplicates(1)

GAGCAAAAGAGAGAT?CCTGGACTCTGCAGAGTGAAGAGAAAATAGCAAACGATCCAGACGGCAGGGAGTGCATCAAAGGTGTGAACACAG|GCGCAAGGTTTCTCTCTCATGCCCAGGCGGGAGTGCAGCGCACGACCTCGGCTCACTGCAGCCTCCACCTCATGGGCTCAAGCGATCCTCCCACCTCAGCATCCGGG

EQKRD?WTLQSEEKIANDPDGRECIKGVNT|garflshaqagvqrttsahcslhlmgssdpptsas

LH00995:48:23YTGFLT4:2:2497:9850:26082,LH00995:48:23YTGFLT4:3:1186:34695:13877,LH00995:48:23YTGFLT4:6:2359:13054:11341,LH00995:48:23YTGFLT4:4:1431:44637:26614

AC125494.1

GLI4

+/+

chr12:6667948

chr8:143268860

exon

intron

translocation

2306

145

low

|Zinc_finger__C2H2_type(100%)

ENSG00000219410.6

ENSG00000250571.7

ENST00000586338.2

downstream

upstream

duplicates(2),mismappers(2),multimappers(1)

GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT|TGTTGTTTGAGTCTTGCTGTGTCTCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGAgTTCAAGCTGTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCaCCACTGCGCC

LH00995:48:23YTGFLT4:2:2209:49702:20701,LH00995:48:23YTGFLT4:3:1176:17455:29109,LH00995:48:23YTGFLT4:3:1176:17471:29109,LH00995:48:23YTGFLT4:4:2290:38441:22187,LH00995:48:23YTGFLT4:4:2471:20238:16049,LH00995:48:23YTGFLT4:6:1152:27826:15040,LH00995:48:23YTGFLT4:6:2226:3710:17520

KLF3

KLF3P1

+/+

-/-

chr4:38689861

chr5:172254730

CDS

exon

translocation

1355

low

out-of-frame

ENSG00000109787.13

ENSG00000253218.1

ENST00000261438.10

ENST00000521506.1

downstream

mismappers(1)

ATTAAAATAGAACCTGGGATCGAACCACAGAGGACAGATTATTATCCTGAAGAAATGTCACCCCCCTTAATGAACTCAGTGTCCCCCC|g|CAAGCATTGTTGCAAGAGAATCACC

IKIEPGIEPQRTDYYPEEMSPPLMNSVSP|r|khcckri

LH00995:48:23YTGFLT4:4:2401:10546:22999,LH00995:48:23YTGFLT4:6:2156:39889:6899,LH00995:48:23YTGFLT4:8:2288:37081:10556

EPM2A

MAPK8

-/-

+/+

chr6:145735198

chr10:48401612

CDS/splice-site

5'UTR/splice-site

translocation

239

490

low

Starch_binding_domain(93%)|Protein_kinase_domain(100%)

ENSG00000112425.16

ENSG00000107643.16

ENST00000638717.1

ENST00000395611.7

upstream

GAGCCGGGCCGCGTGGACACGTTCTGGTACAAGTTCCTGAAGCGGGAGCCGGGAGGAGAGCTCTCCTGGGAAG|CTTCTTGGTGAATTTTTGGATGAAGCCATTAAATTAATTGCTTGCCATCATGAGCAGAAGCAAGCGTGACAACAATTTTTATAGTGTAGAGATTGGAGATTCTACATTCACAGTCCTGAAACGATATCAGAATTTAAAACCTATAGGCTCAGGAGCTCAAGGAATAGTATG___CGCAGCTTATGATGCCATTCTTGAAAGAAATGTTGCAATCAAGAAGCTAAGCCGACCATTTCAGAATCAGACTCATGCCAAGCGGGCCTACAGA

LH00995:48:23YTGFLT4:5:1271:45002:4797,LH00995:48:23YTGFLT4:4:1450:13313:19216

BPHL

AL158817.1

+/+

-/-

chr6:3129198

chr6:6901748

CDS/splice-site

exon/splice-site

inversion

505

low

out-of-frame

alpha/beta_hydrolase_fold(93%)|

ENSG00000137274.13

ENSG00000223342.2

ENST00000380379.10

ENST00000422310.2

downstream

CTGGGATCCTCGAGGCTATGGACATTCCAGGCCCCCAGATCGCGATTTCCCAGCAGACTTTTTTGAAAGGGATGCAAAAGATGCTGTTGATTTGATGAAG___GCGCTGAAGTTTAAGAAGGTTTCTCTGCTGGGGTGGAGTGATGGGGGCATAACCGCACTCATTGCTGCTGCAAAATATCCATCTTACATCCACAAGATGGTGATCTGGGGCGCCAACGCCTACGTCACTGACGAAGACAGCATGATATATGAGG|ATGGCCCCAGGACTCCTGGAAGATGATATGTGGCAATAACTGTCACCCAGAGCCACCAAAGCACTTCACCTGCCCTGCCTTGTAGCCTGCCCTGCCTTGTAGCGCTTCTGCCG

WDPRGYGHSRPPDRDFPADFFERDAKDAVDLMKALKFKKVSLLGWSDGGITALIAAAKYPSYIHKMVIWGANAYVTDEDSMIYE|dgprtpgr*

LH00995:48:23YTGFLT4:5:1316:48221:25676,LH00995:48:23YTGFLT4:3:2121:12925:16722

LATS2

MCF2L

-/-

+/+

chr13:21045685

chr13:113045271

CDS/splice-site

inversion

467

1904

low

out-of-frame

|Divergent_CRAL/TRIO_domain(75%),PH_domain(100%),RhoGEF_domain(100%),Spectrin_repeat(100%),Variant_SH3_domain(100%)

ENSG00000150457.9

ENSG00000126217.21

ENST00000382592.5

ENST00000375608.7

upstream

duplicates(4)

GGGAAATCAGATATTCCTTGTTGCCTTTTGCTAATGAATCGGGCACCTCTGCAGCTGCAGAAGTGAACCGGCAAATGCTGCAGGAACTGGTGAACGCAGGATGCGACCAG|CCTGCAGGACGCTGGCATCGGATTCATCCTGGTGATAGACCGGCGACGGGACAAATGGACCTCCGTGAAGGCGTCCGTCCTGCGCATCGCA___GCATCTTTCCCGGCAAACCTGCAGCTCGTCCTCGTGCTTCGCCCGACGGGTTTTTTCC

EIRYSLLPFANESGTSAAAEVNRQMLQELVNAGCDQ|pagrwhrihpgdrpatgqmdlregvrpahrsifpgkpaarpraspdgff

LH00995:48:23YTGFLT4:4:2453:34614:12084,LH00995:48:23YTGFLT4:4:2453:34622:12070,LH00995:48:23YTGFLT4:8:2460:22390:22411,LH00995:48:23YTGFLT4:8:2460:22398:22397,LH00995:48:23YTGFLT4:8:2460:22398:22425,LH00995:48:23YTGFLT4:8:2460:22406:22411

PPP4R2

G3BP2

+/+

-/-

chr3:72998158

chr4:75662049

CDS/splice-site

5'UTR/splice-site

translocation

1969

2198

low

out-of-frame

PPP4R2(10%)|Nuclear_transport_factor_2_(NTF2)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)

ENSG00000163605.15

ENSG00000138757.15

ENST00000356692.10

ENST00000676666.1

downstream

GGGAGGGCGTCGGGGGGGTGGGGGGAGGCGTTCCGGTCCCCAAGAGACCCGCGGAGGGAGGCGGAGGCTGTGAGGGACTCCGGGAAGCCATGGACGTCGAGAGGCTCCAGGAGGCGCTGAAAG___ATTTTGAGAAGAGGGGGAAAAAGGAAGTTTGTCCTGTCCTGGATCAGTTTCTTTGTCATGTAGCCAAGACTGGAGAAACAAT|CATTTGACATTGTGCAGCAAAGAAATGGTTATGGAGAAGCCCAGTCCGCTGCTTGTAGGGC

MDVERLQEALKDFEKRGKKEVCPVLDQFLCHVAKTGETi|i*

LH00995:48:23YTGFLT4:3:2296:9559:20253,LH00995:48:23YTGFLT4:8:2230:2764:6661

EHMT1

ALKBH3

+/+

chr9:137744090

chr11:43901516

CDS/splice-site

translocation

3384

529

low

in-frame

|2OG-Fe(II)_oxygenase_superfamily(65%)

ENSG00000181090.21

ENSG00000166199.13

ENST00000460843.6

ENST00000302708.9

downstream

upstream

GACGACTCcGAGGAGCTCGAGGAGGACGACGGCCATGGTGCAGAGCAGGCGGCCGCGTTCCCCACAGAGGACAGCAGGACTTCCAAGGAGAGCATGTCGGAGGCTGATCGCGCCCAGAAG|TGGCACCCTGTGCTGCGCAtACTAAAGAACCGCATTGAAGAGAACACTGGCCACACCTTCAAC

DDSEELEEDDGHGAEQAAAFPTEDSRTSKESMSEADRAQK|WHPVLRiLKNRIEENTGHTF

LH00995:48:23YTGFLT4:6:2157:40948:23167,LH00995:48:23YTGFLT4:7:2209:12391:28688

KIF5B

DAD1

-/-

chr10:32055848

chr14:22565137

CDS/splice-site

translocation

7896

2107

low

out-of-frame

Kinesin_motor_domain(9%)|DAD_family(2%)

ENSG00000170759.11

ENSG00000129562.11

ENST00000302418.5

ENST00000538631.1

upstream

downstream

GGCGGACCTGGCCGAGTGCAACATCAAAGTGATGTGTCGCTTCAGACCTCTCAACGAGTCTGAAGTGAACCGCGGCGACAAGTACATCGCCAAGTTTCAGGGAGAAGACACGGTCGTGATCGCG|GTTCACTCTTTGAATTTCCTGGATAAGAGTTCTGGAGATGGCAGCTTATTG

ADLAECNIKVMCRFRPLNESEVNRGDKYIAKFQGEDTVVIA|vhslnfldkssgdgsl

LH00995:48:23YTGFLT4:5:1246:49758:29235,LH00995:48:23YTGFLT4:8:2483:30059:12742

FOXO3

TMEM11

+/+

-/-

chr6:108664889

chr17:21198840

3'UTR/splice-site

CDS/splice-site

translocation

3970

1033

low

stop-codon

Forkhead_domain(100%),KIX-binding_domain_of_forkhead_box_O__CR2(100%),Transactivation_domain_of_FOXO_protein_family(100%)|Mitochondrial_morphogenesis_regulator(100%)

ENSG00000118689.15

ENSG00000178307.10

ENST00000343882.10

ENST00000317635.6

downstream

duplicates(1)

ACAGAATGTTGTTGGTTTGAACGTGGGGAACTTCACTGGTGCTAAGCAGGCCTCATCTCAGAGCTGGGTGCCAGGCTGAAGGATCACTGAGGAAGGGGAAGTGGGCAAAGCAG|GGTGAGCTTGTCGGCCACAGACTGCTACATTGTGCATGAGATCTACAATGGGGAGAATGCCCAAGACCAGTTTGAGTACGAGCTGGAGCAGGCCCTGGAAGCCCAG

LH00995:48:23YTGFLT4:2:1281:51465:21822,LH00995:48:23YTGFLT4:2:2283:13879:6773,LH00995:48:23YTGFLT4:4:2452:20222:29613

PHYKPL

SQSTM1

-/-

+/+

chr5:178232492

chr5:179833587

CDS/splice-site

inversion

1026

18951

low

out-of-frame

|UBA_domain(100%)

ENSG00000175309.15

ENSG00000161011.20

ENST00000308158.10

ENST00000389805.9

upstream

duplicates(2)

GTCTCCGCGTGGCGTCACGGCACCGACTGACGGCCACCCACCATGGCCGCAGACCAGCGCCCGAAGGCCGACACGCTGGCCCTGAGGCAACGGCTCATCAG|GAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAG

MAADQRPKADTLALRQRLIr|nrwsritvqeemmtgpiclqkkwtrlqvns

LH00995:48:23YTGFLT4:4:2370:50988:10374,LH00995:48:23YTGFLT4:7:1380:37801:8861,LH00995:48:23YTGFLT4:7:2302:49629:10374,LH00995:48:23YTGFLT4:8:2422:16153:11131

AL683807.2(442713),DHRSX(8017)

DHRSX

./-

-/-

chrX:2211489

chrX:2425304

intergenic

CDS/splice-site

duplication

658

low

ENSG00000169084.15

ENST00000334651.11

upstream

downstream

CTTCCCAGCAGGGGAAACTGCGTGGATTGTTGG|TTTTCCCCCCACGACCTGACCGTGTCGCTATAGTGACGGGAGGGACAGATGGCATTGGCTATT

LH00995:48:23YTGFLT4:8:2202:17560:21640

AC073114.1

IMMP2L

-/-

chr7:110290307

chr7:110963565

intron

CDS/splice-site

duplication

342

low

|Signal_peptidase__peptidase_S26_(51%)

ENSG00000226965.2

ENSG00000184903.10

ENST00000667232.1

ENST00000405709.7

upstream

downstream

GCCTCCTGAGCCATGTGGAACT___GTTATTCATCCTCTTCAGTCCACAGGACCACTTCCATTAGGATTGTCTCTGCACCT|GTCTCCTAAAAACCCAGAACAGAAGATCATTAAGAGAGTGATTGCTCTTGAAGGAGATATTGTCAG

LH00995:48:23YTGFLT4:3:2334:46312:12028

IMMP2L

AC073114.1

-/-

chr7:110886593

chr7:110432906

CDS/splice-site

exon/splice-site

deletion

564

low

out-of-frame

Signal_peptidase__peptidase_S26_(88%)|

ENSG00000184903.10

ENSG00000226965.2

ENST00000405709.7

ENST00000667232.1

upstream

downstream

duplicates(1)

GTCAAAGTCCCCCGTGGTCACATCTGGGTTGAAGGTGATCATCATGGACACAGTTTTGACAGTAATTCTTTTGGGCCG|GAATTCCTGTGAGCATTCCTCTTCAAGATGGAAGAAAAAGGGAATATTTCACAgCCCCAATGGTGAAACGTCT

VKVPRGHIWVEGDHHGHSFDSNSFGP|efl*

LH00995:48:23YTGFLT4:3:1315:39970:21192,LH00995:48:23YTGFLT4:3:1315:39978:21206

AC073114.1

IMMP2L

-/-

chr7:110365216

chr7:111521449

exon/splice-site

5'UTR/splice-site

duplication

1066

low

|Signal_peptidase__peptidase_S26_(100%)

ENSG00000226965.2

ENSG00000184903.10

ENST00000667232.1

ENST00000405709.7

upstream

downstream

duplicates(3),mismappers(1)

CACCATGATTATGAGGCCTCCTGAGCCATGTGGAACT|GTATGGCACAGTCACAAGGGTGGGTGAAAAGATACATCAAGGCCTTTTGTAAAGGCTTCTTTGTGGCGGTGCCTGTGGCAGTGACTTTCTTGGATCGGGTCGCCTGTGTGGCAAGAGTAGAAGGAGCATCGATGCAG

LH00995:48:23YTGFLT4:1:2170:8750:20141,LH00995:48:23YTGFLT4:1:2170:8758:20155,LH00995:48:23YTGFLT4:6:2406:43731:4783,LH00995:48:23YTGFLT4:7:1496:49936:20687

215 rows