aih-tih-sc-64cace-R1_A23WJ53LT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-64cace-R1_A23WJ53LT4_1)

File Info

Filename: aih-tih-sc-64cace-R1_A23WJ53LT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/70/ecc5cc62ed6aa74d8fc2df87038e14/aih-tih-sc-64cace-R1_A23WJ53LT4_1.arriba.fusions.tsv
Size: 459.3 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-64cace-R1_A23WJ53LT4_1)
Attempt

Content

View in new tab

#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

TGTTGCCTCACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCC

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

LH00995:41:23WJ53LT4:1:1101:3217:27343,LH00995:41:23WJ53LT4:1:1101:3225:27357,LH00995:41:23WJ53LT4:1:1487:2836:13849,LH00995:41:23WJ53LT4:1:2238:27665:16750,LH00995:41:23WJ53LT4:1:2322:33457:27511,LH00995:41:23WJ53LT4:1:2497:26912:28450,LH00995:41:23WJ53LT4:2:1135:44888:18810,LH00995:41:23WJ53LT4:2:1245:30326:7516,LH00995:41:23WJ53LT4:2:1247:36450:8483,LH00995:41:23WJ53LT4:2:1255:7796:9491,LH00995:41:23WJ53LT4:2:2210:24744:16876,LH00995:41:23WJ53LT4:2:2472:26823:10809,LH00995:41:23WJ53LT4:3:1117:37284:16876,LH00995:41:23WJ53LT4:3:1137:21322:10024,LH00995:41:23WJ53LT4:3:1137:21330:10010,LH00995:41:23WJ53LT4:3:1140:35261:24302,LH00995:41:23WJ53LT4:3:1188:8224:1631,LH00995:41:23WJ53LT4:3:1273:9381:24064,LH00995:41:23WJ53LT4:3:1282:23806:19118,LH00995:41:23WJ53LT4:3:1298:40471:1406,LH00995:41:23WJ53LT4:3:1382:51910:9646,LH00995:41:23WJ53LT4:3:2150:48165:5932,LH00995:41:23WJ53LT4:3:2154:27438:27399,LH00995:41:23WJ53LT4:3:2155:15158:6100,LH00995:41:23WJ53LT4:3:2264:7310:17338,LH00995:41:23WJ53LT4:3:2342:14680:19706,LH00995:41:23WJ53LT4:3:2477:6202:10711,LH00995:41:23WJ53LT4:3:2495:10239:5736,LH00995:41:23WJ53LT4:4:1151:35989:1883,LH00995:41:23WJ53LT4:4:1306:31087:15110,LH00995:41:23WJ53LT4:4:2213:3686:27848,LH00995:41:23WJ53LT4:4:2317:39492:24681,LH00995:41:23WJ53LT4:4:2397:11468:16273,LH00995:41:23WJ53LT4:4:2423:4916:18263,LH00995:41:23WJ53LT4:4:2464:14219:10865,LH00995:41:23WJ53LT4:5:1281:21007:6395,LH00995:41:23WJ53LT4:5:1294:47404:24316,LH00995:41:23WJ53LT4:5:1345:11962:3256,LH00995:41:23WJ53LT4:5:1379:26710:16161,LH00995:41:23WJ53LT4:5:1464:23862:29501,LH00995:41:23WJ53LT4:5:2103:37187:8076,LH00995:41:23WJ53LT4:5:2145:17212:7446,LH00995:41:23WJ53LT4:6:1382:37429:13597,LH00995:41:23WJ53LT4:6:2115:25043:13779,LH00995:41:23WJ53LT4:6:2320:50017:27834,LH00995:41:23WJ53LT4:6:2332:30245:11944,LH00995:41:23WJ53LT4:7:1305:12553:26278,LH00995:41:23WJ53LT4:7:1437:25772:2177,LH00995:41:23WJ53LT4:7:1483:5522:23938,LH00995:41:23WJ53LT4:7:2106:35819:17927,LH00995:41:23WJ53LT4:7:2137:4115:15307,LH00995:41:23WJ53LT4:7:2291:24922:23181,LH00995:41:23WJ53LT4:8:1106:13321:28814,LH00995:41:23WJ53LT4:8:1140:41563:4167,LH00995:41:23WJ53LT4:8:1189:34226:2331,LH00995:41:23WJ53LT4:8:1189:34234:2345,LH00995:41:23WJ53LT4:8:2352:19591:12434,LH00995:41:23WJ53LT4:8:2370:10821:16105,LH00995:41:23WJ53LT4:8:2396:50381:29249,LH00995:41:23WJ53LT4:8:2402:6946:22509,LH00995:41:23WJ53LT4:1:1449:37098:11173,LH00995:41:23WJ53LT4:1:1449:37114:11173,LH00995:41:23WJ53LT4:1:1449:37122:11187,LH00995:41:23WJ53LT4:1:1449:37130:11201,LH00995:41:23WJ53LT4:1:1449:37146:11201,LH00995:41:23WJ53LT4:1:1472:50754:15321,LH00995:41:23WJ53LT4:1:2140:52016:28324,LH00995:41:23WJ53LT4:1:2150:45479:26839,LH00995:41:23WJ53LT4:1:2385:51732:25900,LH00995:41:23WJ53LT4:1:2419:15408:12364,LH00995:41:23WJ53LT4:1:2419:15416:12350,LH00995:41:23WJ53LT4:2:1144:27390:8398,LH00995:41:23WJ53LT4:2:1247:28830:21094,LH00995:41:23WJ53LT4:2:1388:32778:17030,LH00995:41:23WJ53LT4:2:2207:50988:25536,LH00995:41:23WJ53LT4:2:2343:29388:12336,LH00995:41:23WJ53LT4:2:2410:1170:2331,LH00995:41:23WJ53LT4:2:2428:48585:21010,LH00995:41:23WJ53LT4:3:1257:43392:8623,LH00995:41:23WJ53LT4:3:1429:24137:6353,LH00995:41:23WJ53LT4:3:1432:38465:29431,LH00995:41:23WJ53LT4:4:1148:10886:12042,LH00995:41:23WJ53LT4:4:1166:16525:7908,LH00995:41:23WJ53LT4:4:1204:31863:25283,LH00995:41:23WJ53LT4:4:1234:18361:28492,LH00995:41:23WJ53LT4:4:1234:18369:28478,LH00995:41:23WJ53LT4:4:1234:18377:28492,LH00995:41:23WJ53LT4:4:1240:4260:12420,LH00995:41:23WJ53LT4:4:2277:42324:5092,LH00995:41:23WJ53LT4:4:2391:35609:29053,LH00995:41:23WJ53LT4:5:1182:37049:27876,LH00995:41:23WJ53LT4:5:1216:6113:23896,LH00995:41:23WJ53LT4:5:1489:32600:1869,LH00995:41:23WJ53LT4:6:1193:37284:7964,LH00995:41:23WJ53LT4:6:2223:2796:2541,LH00995:41:23WJ53LT4:6:2274:25197:9393,LH00995:41:23WJ53LT4:6:2274:25205:9407,LH00995:41:23WJ53LT4:6:2497:35625:9379,LH00995:41:23WJ53LT4:7:1151:5336:24513,LH00995:41:23WJ53LT4:7:1189:47566:21346,LH00995:41:23WJ53LT4:7:1206:42704:28618,LH00995:41:23WJ53LT4:8:1124:51393:29711,LH00995:41:23WJ53LT4:8:1173:7852:17941,LH00995:41:23WJ53LT4:8:1205:7844:24653,LH00995:41:23WJ53LT4:8:1205:7852:24667,LH00995:41:23WJ53LT4:1:2270:23450:22117,LH00995:41:23WJ53LT4:1:2270:23458:22103,LH00995:41:23WJ53LT4:1:2270:23466:22117,LH00995:41:23WJ53LT4:1:2270:23474:22103

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

228

3496

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(32)

VASQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGG

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

369

184

high

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(18),mismatches(1)

GCCGCGGACCCTCGCG___AGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCT

prtlaRRSRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1111:14130:27441,LH00995:41:23WJ53LT4:1:1117:49661:21612,LH00995:41:23WJ53LT4:1:1237:38853:10150,LH00995:41:23WJ53LT4:1:1426:30609:21878,LH00995:41:23WJ53LT4:1:2239:34072:2513,LH00995:41:23WJ53LT4:1:2327:46733:3508,LH00995:41:23WJ53LT4:2:1186:43667:20673,LH00995:41:23WJ53LT4:2:1186:43675:20687,LH00995:41:23WJ53LT4:2:1455:30723:17535,LH00995:41:23WJ53LT4:3:1189:24582:27721,LH00995:41:23WJ53LT4:3:1197:44516:7376,LH00995:41:23WJ53LT4:3:1217:14130:7796,LH00995:41:23WJ53LT4:3:1252:38230:18123,LH00995:41:23WJ53LT4:3:2253:25521:17436,LH00995:41:23WJ53LT4:4:1139:38174:2191,LH00995:41:23WJ53LT4:4:1186:51077:3859,LH00995:41:23WJ53LT4:4:1496:3662:12672,LH00995:41:23WJ53LT4:4:2161:41126:26586,LH00995:41:23WJ53LT4:5:1409:37356:12322,LH00995:41:23WJ53LT4:5:2118:2925:2233,LH00995:41:23WJ53LT4:5:2183:17301:26516,LH00995:41:23WJ53LT4:5:2220:19421:2219,LH00995:41:23WJ53LT4:5:2283:30270:19580,LH00995:41:23WJ53LT4:6:1248:43990:8483,LH00995:41:23WJ53LT4:6:2113:28482:1715,LH00995:41:23WJ53LT4:6:2131:45058:29725,LH00995:41:23WJ53LT4:7:1297:46741:22523,LH00995:41:23WJ53LT4:7:1315:48909:19720,LH00995:41:23WJ53LT4:7:1323:2141:3844,LH00995:41:23WJ53LT4:7:2113:48561:15755,LH00995:41:23WJ53LT4:7:2207:34161:3200,LH00995:41:23WJ53LT4:7:2237:32834:13625,LH00995:41:23WJ53LT4:7:2370:46110:25606,LH00995:41:23WJ53LT4:7:2459:13402:11159,LH00995:41:23WJ53LT4:8:1352:46037:22313,LH00995:41:23WJ53LT4:8:1393:25852:18375,LH00995:41:23WJ53LT4:8:2156:47890:15180,LH00995:41:23WJ53LT4:8:2422:11315:28338,LH00995:41:23WJ53LT4:1:1346:49888:29627,LH00995:41:23WJ53LT4:1:1457:43739:12028,LH00995:41:23WJ53LT4:1:1457:43748:12014,LH00995:41:23WJ53LT4:2:1102:23676:17773,LH00995:41:23WJ53LT4:2:1127:49597:3228,LH00995:41:23WJ53LT4:2:1198:43270:3144,LH00995:41:23WJ53LT4:2:2111:23951:21864,LH00995:41:23WJ53LT4:2:2156:6323:1140,LH00995:41:23WJ53LT4:2:2347:17940:9323,LH00995:41:23WJ53LT4:2:2360:24833:7165,LH00995:41:23WJ53LT4:2:2360:24841:7151,LH00995:41:23WJ53LT4:3:1188:3023:1336,LH00995:41:23WJ53LT4:4:1191:28530:15447,LH00995:41:23WJ53LT4:4:1316:38360:27848,LH00995:41:23WJ53LT4:4:1357:9041:6801,LH00995:41:23WJ53LT4:4:1423:48828:1504,LH00995:41:23WJ53LT4:4:2288:50802:7950,LH00995:41:23WJ53LT4:4:2295:17536:24092,LH00995:41:23WJ53LT4:5:1139:25294:16203,LH00995:41:23WJ53LT4:5:1303:41855:17703,LH00995:41:23WJ53LT4:5:2110:16598:6633,LH00995:41:23WJ53LT4:5:2407:35148:20968,LH00995:41:23WJ53LT4:6:1146:34501:4013,LH00995:41:23WJ53LT4:6:1267:46094:2709,LH00995:41:23WJ53LT4:6:2158:29614:3901,LH00995:41:23WJ53LT4:6:2330:18005:6913,LH00995:41:23WJ53LT4:6:2483:14462:22943,LH00995:41:23WJ53LT4:7:1101:43594:27077,LH00995:41:23WJ53LT4:7:2153:22875:3550,LH00995:41:23WJ53LT4:7:2186:20683:23686,LH00995:41:23WJ53LT4:7:2186:20691:23672,LH00995:41:23WJ53LT4:7:2186:20699:23686,LH00995:41:23WJ53LT4:7:2339:43424:23532,LH00995:41:23WJ53LT4:7:2397:15344:24555,LH00995:41:23WJ53LT4:7:2467:30609:12574,LH00995:41:23WJ53LT4:8:1246:42825:20729,LH00995:41:23WJ53LT4:8:1246:42841:20729,LH00995:41:23WJ53LT4:8:1246:42850:20715,LH00995:41:23WJ53LT4:8:2171:5611:15349,LH00995:41:23WJ53LT4:8:2171:5619:15335,LH00995:41:23WJ53LT4:8:2424:8006:13891,LH00995:41:23WJ53LT4:8:2429:9001:9421,LH00995:41:23WJ53LT4:1:2421:21597:19384,LH00995:41:23WJ53LT4:2:2183:46595:12266,LH00995:41:23WJ53LT4:2:2183:46603:12252,LH00995:41:23WJ53LT4:2:2210:3354:19790,LH00995:41:23WJ53LT4:5:1142:37235:17408,LH00995:41:23WJ53LT4:6:2397:12755:4209,LH00995:41:23WJ53LT4:6:2495:40156:12602,LH00995:41:23WJ53LT4:8:1342:42890:28324

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1005

184

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(11)

CTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAG

LIACSVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1489:11913:14186,LH00995:41:23WJ53LT4:1:1489:12172:14410,LH00995:41:23WJ53LT4:2:1494:30601:11299,LH00995:41:23WJ53LT4:2:1494:30617:11299,LH00995:41:23WJ53LT4:4:1372:6954:28492,LH00995:41:23WJ53LT4:5:2198:20481:12350,LH00995:41:23WJ53LT4:5:2198:20481:12378,LH00995:41:23WJ53LT4:5:2198:20489:12364,LH00995:41:23WJ53LT4:5:2198:20497:12378,LH00995:41:23WJ53LT4:6:1132:36790:15545,LH00995:41:23WJ53LT4:6:1220:19000:7964,LH00995:41:23WJ53LT4:7:1319:10328:8917,LH00995:41:23WJ53LT4:8:1203:33473:3999,LH00995:41:23WJ53LT4:8:2494:27406:10640,LH00995:41:23WJ53LT4:2:1452:19494:16329,LH00995:41:23WJ53LT4:3:1362:25399:23476,LH00995:41:23WJ53LT4:4:1316:21176:18908,LH00995:41:23WJ53LT4:4:1392:42518:2569,LH00995:41:23WJ53LT4:5:1211:20157:6521,LH00995:41:23WJ53LT4:5:1292:8637:22046,LH00995:41:23WJ53LT4:5:1292:8645:22060,LH00995:41:23WJ53LT4:5:1476:46579:25606,LH00995:41:23WJ53LT4:6:2364:46102:24022,LH00995:41:23WJ53LT4:7:1222:22714:10528,LH00995:41:23WJ53LT4:7:1222:22722:10458,LH00995:41:23WJ53LT4:7:2433:40690:12098,LH00995:41:23WJ53LT4:8:1122:47153:24302,LH00995:41:23WJ53LT4:5:1142:37235:17408,LH00995:41:23WJ53LT4:6:2495:40156:12602

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

478

184

medium

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(6)

TGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAG

FESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:41:23WJ53LT4:2:1157:42526:14802,LH00995:41:23WJ53LT4:2:1448:29291:1266,LH00995:41:23WJ53LT4:4:2103:7747:10388,LH00995:41:23WJ53LT4:5:2422:7326:12882,LH00995:41:23WJ53LT4:7:1153:9228:25816,LH00995:41:23WJ53LT4:7:1407:6008:14522,LH00995:41:23WJ53LT4:7:2377:8969:5750,LH00995:41:23WJ53LT4:7:2496:47097:3494,LH00995:41:23WJ53LT4:8:1125:4543:21206,LH00995:41:23WJ53LT4:8:1465:51182:25844,LH00995:41:23WJ53LT4:8:2492:5530:23364,LH00995:41:23WJ53LT4:1:1103:23531:18669,LH00995:41:23WJ53LT4:1:2323:21055:26769,LH00995:41:23WJ53LT4:2:2191:49475:15293,LH00995:41:23WJ53LT4:2:2252:40245:8889,LH00995:41:23WJ53LT4:2:2339:33053:12546,LH00995:41:23WJ53LT4:4:1441:9454:12532,LH00995:41:23WJ53LT4:5:1252:4996:1140,LH00995:41:23WJ53LT4:5:1391:14761:23658,LH00995:41:23WJ53LT4:5:2266:34517:17492,LH00995:41:23WJ53LT4:6:2204:31653:7263,LH00995:41:23WJ53LT4:8:1313:31208:1056

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

184

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

ACAgAcACACACAGAGGAAGGACCGTGTGAAGACGAAGGGGGAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAG

LH00995:41:23WJ53LT4:2:2425:37421:20253,LH00995:41:23WJ53LT4:4:2131:18224:2583,LH00995:41:23WJ53LT4:5:2404:2513:9926,LH00995:41:23WJ53LT4:7:1368:42008:10206,LH00995:41:23WJ53LT4:8:1349:51069:28618,LH00995:41:23WJ53LT4:5:1142:37235:17408,LH00995:41:23WJ53LT4:6:2495:40156:12602

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

1005

267

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

ATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGA...CCTGGGCATCAAGGCAGAATAAACCTTCCAGCGTCATTCAGCCGAAAAGGAGGAAGTCTTCCAAGTCTTCTGGCAAAGCTGTGTTCAGGGACACcCTGTCAGAATCCACGTTATCAATGTGGGGCGCTTATTCGGTATTGGCCATGGCTCC

MGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:41:23WJ53LT4:2:1376:42882:11299,LH00995:41:23WJ53LT4:2:2303:23134:28464,LH00995:41:23WJ53LT4:7:2184:16322:27399

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

478

267

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

GTGGAATCACATTGATGAAGATGGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATG

WNHIDEDGKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrp

LH00995:41:23WJ53LT4:2:2159:2456:10865

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTC

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

LH00995:41:23WJ53LT4:1:1227:25577:27763,LH00995:41:23WJ53LT4:1:1339:9891:19118,LH00995:41:23WJ53LT4:1:1367:48553:10612,LH00995:41:23WJ53LT4:1:1452:24542:8791,LH00995:41:23WJ53LT4:1:1473:37801:28926,LH00995:41:23WJ53LT4:1:2116:50300:2233,LH00995:41:23WJ53LT4:1:2140:3783:14676,LH00995:41:23WJ53LT4:1:2151:44929:6213,LH00995:41:23WJ53LT4:1:2216:37251:23658,LH00995:41:23WJ53LT4:1:2232:35229:3088,LH00995:41:23WJ53LT4:1:2288:36895:15979,LH00995:41:23WJ53LT4:1:2304:27980:7011,LH00995:41:23WJ53LT4:1:2475:18078:4489,LH00995:41:23WJ53LT4:2:1155:29428:25914,LH00995:41:23WJ53LT4:2:1291:41846:9141,LH00995:41:23WJ53LT4:2:1332:49629:14746,LH00995:41:23WJ53LT4:2:2111:28911:25465,LH00995:41:23WJ53LT4:2:2262:39937:16848,LH00995:41:23WJ53LT4:2:2265:51465:23560,LH00995:41:23WJ53LT4:2:2411:9656:16526,LH00995:41:23WJ53LT4:3:1301:24744:13485,LH00995:41:23WJ53LT4:3:1450:17463:14690,LH00995:41:23WJ53LT4:3:2108:7836:4657,LH00995:41:23WJ53LT4:3:2130:28846:14676,LH00995:41:23WJ53LT4:4:1138:35690:3298,LH00995:41:23WJ53LT4:4:1138:35698:3312,LH00995:41:23WJ53LT4:4:1219:35075:4979,LH00995:41:23WJ53LT4:4:1451:47162:20645,LH00995:41:23WJ53LT4:4:2196:26306:26222,LH00995:41:23WJ53LT4:4:2395:9292:20183,LH00995:41:23WJ53LT4:4:2422:10085:3901,LH00995:41:23WJ53LT4:4:2438:15991:9590,LH00995:41:23WJ53LT4:4:2454:44031:28086,LH00995:41:23WJ53LT4:5:1325:5482:1168,LH00995:41:23WJ53LT4:5:2170:1550:2597,LH00995:41:23WJ53LT4:5:2192:41579:3466,LH00995:41:23WJ53LT4:5:2205:34784:11425,LH00995:41:23WJ53LT4:5:2274:4584:19734,LH00995:41:23WJ53LT4:5:2378:12609:17773,LH00995:41:23WJ53LT4:6:1121:25343:4181,LH00995:41:23WJ53LT4:6:1185:2982:20127,LH00995:41:23WJ53LT4:6:1194:8483:5274,LH00995:41:23WJ53LT4:6:1358:3039:1476,LH00995:41:23WJ53LT4:6:1358:3055:1476,LH00995:41:23WJ53LT4:6:2151:34436:11860,LH00995:41:23WJ53LT4:6:2394:13928:15152,LH00995:41:23WJ53LT4:6:2485:28749:17450,LH00995:41:23WJ53LT4:6:2485:28757:17464,LH00995:41:23WJ53LT4:6:2485:28773:17464,LH00995:41:23WJ53LT4:7:1142:2133:12882,LH00995:41:23WJ53LT4:7:1148:48367:13177,LH00995:41:23WJ53LT4:7:2149:15651:8805,LH00995:41:23WJ53LT4:7:2149:15659:8819,LH00995:41:23WJ53LT4:7:2149:15667:8805,LH00995:41:23WJ53LT4:7:2260:30917:20393,LH00995:41:23WJ53LT4:7:2467:43246:17198,LH00995:41:23WJ53LT4:8:1223:30965:22663,LH00995:41:23WJ53LT4:8:1256:41029:2373,LH00995:41:23WJ53LT4:8:1256:41037:2359,LH00995:41:23WJ53LT4:8:2142:29647:6787,LH00995:41:23WJ53LT4:8:2194:2513:20043,LH00995:41:23WJ53LT4:8:2203:14478:1168,LH00995:41:23WJ53LT4:1:1219:26378:10682,LH00995:41:23WJ53LT4:1:1296:26928:4713,LH00995:41:23WJ53LT4:1:1353:11282:7235,LH00995:41:23WJ53LT4:1:2431:6614:3971,LH00995:41:23WJ53LT4:1:2434:49928:7362,LH00995:41:23WJ53LT4:1:2472:16031:26614,LH00995:41:23WJ53LT4:2:1309:15934:26250,LH00995:41:23WJ53LT4:2:2264:17633:3522,LH00995:41:23WJ53LT4:2:2496:50640:27427,LH00995:41:23WJ53LT4:2:2496:50648:27441,LH00995:41:23WJ53LT4:3:1209:1906:6157,LH00995:41:23WJ53LT4:3:1255:32600:17338,LH00995:41:23WJ53LT4:3:1255:32608:17324,LH00995:41:23WJ53LT4:3:1255:32616:17338,LH00995:41:23WJ53LT4:3:1459:26265:23938,LH00995:41:23WJ53LT4:3:1459:26273:23924,LH00995:41:23WJ53LT4:3:2104:10732:19454,LH00995:41:23WJ53LT4:3:2138:43594:16231,LH00995:41:23WJ53LT4:3:2238:22697:28212,LH00995:41:23WJ53LT4:3:2355:29938:9562,LH00995:41:23WJ53LT4:4:1180:26192:28912,LH00995:41:23WJ53LT4:4:1374:17585:11089,LH00995:41:23WJ53LT4:4:2189:10085:11243,LH00995:41:23WJ53LT4:5:1208:39994:25017,LH00995:41:23WJ53LT4:5:1317:40981:14116,LH00995:41:23WJ53LT4:5:1368:42930:3901,LH00995:41:23WJ53LT4:5:1464:4511:5092,LH00995:41:23WJ53LT4:5:2187:41199:3256,LH00995:41:23WJ53LT4:5:2247:3136:25886,LH00995:41:23WJ53LT4:5:2421:3079:19090,LH00995:41:23WJ53LT4:5:2421:3095:19090,LH00995:41:23WJ53LT4:6:1242:9365:23223,LH00995:41:23WJ53LT4:6:1459:42138:23294,LH00995:41:23WJ53LT4:6:1469:49564:11523,LH00995:41:23WJ53LT4:6:1488:13831:11453,LH00995:41:23WJ53LT4:7:1108:28563:22257,LH00995:41:23WJ53LT4:7:1296:11032:25017,LH00995:41:23WJ53LT4:7:2302:16096:8875,LH00995:41:23WJ53LT4:8:1230:51708:19945,LH00995:41:23WJ53LT4:8:1233:28854:2359,LH00995:41:23WJ53LT4:8:2491:50948:5540

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

235

3496

high

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(36),low_entropy(1),mismappers(3)

HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

275

high

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(11),mismatches(3)

AGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG

SWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

LH00995:41:23WJ53LT4:1:1289:28401:6227,LH00995:41:23WJ53LT4:1:1443:47598:15881,LH00995:41:23WJ53LT4:2:1358:23328:13891,LH00995:41:23WJ53LT4:2:1482:23717:6241,LH00995:41:23WJ53LT4:3:1312:9891:21416,LH00995:41:23WJ53LT4:5:1470:32527:9814,LH00995:41:23WJ53LT4:6:1325:45924:23602,LH00995:41:23WJ53LT4:6:2436:10554:23434,LH00995:41:23WJ53LT4:6:2436:10570:23434,LH00995:41:23WJ53LT4:7:1334:5199:10935,LH00995:41:23WJ53LT4:7:1445:6542:27693,LH00995:41:23WJ53LT4:8:1273:4924:25003,LH00995:41:23WJ53LT4:8:2111:9834:10108,LH00995:41:23WJ53LT4:1:1150:43189:16904,LH00995:41:23WJ53LT4:1:1211:31952:13807,LH00995:41:23WJ53LT4:1:1235:6744:21234,LH00995:41:23WJ53LT4:1:1282:1849:20855,LH00995:41:23WJ53LT4:1:1455:37397:18165,LH00995:41:23WJ53LT4:1:2106:6081:13695,LH00995:41:23WJ53LT4:1:2282:39638:27119,LH00995:41:23WJ53LT4:1:2425:34525:20785,LH00995:41:23WJ53LT4:2:2103:32171:23938,LH00995:41:23WJ53LT4:3:1286:44969:4545,LH00995:41:23WJ53LT4:3:1338:10967:5148,LH00995:41:23WJ53LT4:3:1457:44209:17661,LH00995:41:23WJ53LT4:4:1101:36305:21822,LH00995:41:23WJ53LT4:4:2373:33481:19510,LH00995:41:23WJ53LT4:4:2388:22689:13849,LH00995:41:23WJ53LT4:4:2388:22697:13835,LH00995:41:23WJ53LT4:4:2492:28692:11075,LH00995:41:23WJ53LT4:5:1479:17366:13653,LH00995:41:23WJ53LT4:5:1479:17374:13667,LH00995:41:23WJ53LT4:5:2255:41329:19090,LH00995:41:23WJ53LT4:5:2255:41337:19104,LH00995:41:23WJ53LT4:5:2275:46652:19650,LH00995:41:23WJ53LT4:6:1394:7310:26502,LH00995:41:23WJ53LT4:6:1450:29307:1462,LH00995:41:23WJ53LT4:6:2286:12075:28702,LH00995:41:23WJ53LT4:6:2371:6339:21570,LH00995:41:23WJ53LT4:6:2375:24089:5540,LH00995:41:23WJ53LT4:7:1440:28069:9491,LH00995:41:23WJ53LT4:7:2106:51522:2555,LH00995:41:23WJ53LT4:7:2310:22900:25844,LH00995:41:23WJ53LT4:7:2366:14462:4615,LH00995:41:23WJ53LT4:8:2426:21193:23195,LH00995:41:23WJ53LT4:6:2353:13653:3522

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:141009627

CDS/splice-site

deletion/read-through

198

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(63%)

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

GCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATAtGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCG

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|nqrqekcplqsvrvstatagplnmdqatpnnpvpvsc

LH00995:41:23WJ53LT4:1:1477:1097:17002

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

275

high

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(11),mismatches(3)

SWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:141009627

CDS/splice-site

deletion/read-through

198

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(63%)

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|nqrqekcplqsvrvstatagplnmdqatpnnpvpvsc

LH00995:41:23WJ53LT4:1:1477:1097:17002

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

275

high

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(11),mismatches(3)

SWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:141009627

CDS/splice-site

deletion/read-through

198

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(64%)

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|nqrqekcplqsvrvstatagplnmdqatpnnpvpvsc

LH00995:41:23WJ53LT4:1:1477:1097:17002

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(10),mismappers(3)

GGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGG

SYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA

LH00995:41:23WJ53LT4:1:1452:14688:25157,LH00995:41:23WJ53LT4:1:2321:20489:20547,LH00995:41:23WJ53LT4:2:2293:12658:25339,LH00995:41:23WJ53LT4:2:2293:12690:25339,LH00995:41:23WJ53LT4:3:1110:38020:14200,LH00995:41:23WJ53LT4:3:1110:38028:14214,LH00995:41:23WJ53LT4:3:1319:11088:5106,LH00995:41:23WJ53LT4:3:1319:14761:7320,LH00995:41:23WJ53LT4:3:2148:2036:17535,LH00995:41:23WJ53LT4:3:2392:36766:12644,LH00995:41:23WJ53LT4:5:2218:46984:26138,LH00995:41:23WJ53LT4:6:1268:14413:2738,LH00995:41:23WJ53LT4:6:1494:39355:12504,LH00995:41:23WJ53LT4:7:1417:5992:18950,LH00995:41:23WJ53LT4:7:2158:36604:11888,LH00995:41:23WJ53LT4:8:2376:2731:19664,LH00995:41:23WJ53LT4:1:2380:17245:8062,LH00995:41:23WJ53LT4:2:2440:4843:15166,LH00995:41:23WJ53LT4:3:1235:43335:13961,LH00995:41:23WJ53LT4:3:1284:50940:9562,LH00995:41:23WJ53LT4:3:1392:47291:10528,LH00995:41:23WJ53LT4:3:2444:10603:5694,LH00995:41:23WJ53LT4:4:1287:4163:28310,LH00995:41:23WJ53LT4:4:2361:12083:6100,LH00995:41:23WJ53LT4:5:1409:41062:22551,LH00995:41:23WJ53LT4:5:1468:1655:7179,LH00995:41:23WJ53LT4:5:2128:47526:8104,LH00995:41:23WJ53LT4:5:2185:17633:8539,LH00995:41:23WJ53LT4:6:2225:16120:8048,LH00995:41:23WJ53LT4:6:2251:2383:19398,LH00995:41:23WJ53LT4:7:1449:2327:1392,LH00995:41:23WJ53LT4:7:2210:13038:1224,LH00995:41:23WJ53LT4:8:2136:38133:4083,LH00995:41:23WJ53LT4:1:2196:48990:8511,LH00995:41:23WJ53LT4:6:2143:1955:12574,LH00995:41:23WJ53LT4:8:1333:45487:11467

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(10),mismappers(3)

SYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(10),mismappers(3)

SYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(4),mismatches(1)

CGACTGTGGGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCAGCAGAGGGTGTGCTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACA

DCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

LH00995:41:23WJ53LT4:1:1161:25747:5806,LH00995:41:23WJ53LT4:1:1161:25755:5792,LH00995:41:23WJ53LT4:1:1412:12868:24835,LH00995:41:23WJ53LT4:4:1311:26427:26208,LH00995:41:23WJ53LT4:5:1370:33158:8805,LH00995:41:23WJ53LT4:7:1416:46547:18347,LH00995:41:23WJ53LT4:7:2323:17067:10164,LH00995:41:23WJ53LT4:3:1494:45900:9800,LH00995:41:23WJ53LT4:4:1327:28474:16890,LH00995:41:23WJ53LT4:4:2169:25505:25788,LH00995:41:23WJ53LT4:5:2207:25982:7249,LH00995:41:23WJ53LT4:6:1246:37680:23980,LH00995:41:23WJ53LT4:6:1313:42979:7740,LH00995:41:23WJ53LT4:6:2222:35577:28548,LH00995:41:23WJ53LT4:7:1215:46361:21864,LH00995:41:23WJ53LT4:7:2431:37429:28590,LH00995:41:23WJ53LT4:7:2458:43165:17983,LH00995:41:23WJ53LT4:8:1338:15457:26264,LH00995:41:23WJ53LT4:8:1348:14721:20449,LH00995:41:23WJ53LT4:8:2158:1825:3690

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(4),mismatches(1)

DCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

high

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(4),mismatches(1)

DCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

107

high

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(8),mismatches(1)

CAGAGAATTGTTTGTCCATGGCTTACCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATG

LH00995:41:23WJ53LT4:3:1260:11760:15321,LH00995:41:23WJ53LT4:6:1267:37413:24330,LH00995:41:23WJ53LT4:7:1157:19599:4825,LH00995:41:23WJ53LT4:8:1190:19461:15937,LH00995:41:23WJ53LT4:8:2245:46442:12896,LH00995:41:23WJ53LT4:8:2245:46450:12882,LH00995:41:23WJ53LT4:8:2245:46458:12896,LH00995:41:23WJ53LT4:8:2245:46466:12910,LH00995:41:23WJ53LT4:1:1338:2901:22341,LH00995:41:23WJ53LT4:1:1451:21937:15965,LH00995:41:23WJ53LT4:1:2196:6712:27119,LH00995:41:23WJ53LT4:1:2196:6720:27105,LH00995:41:23WJ53LT4:2:1416:48610:29487,LH00995:41:23WJ53LT4:3:1432:21541:1687,LH00995:41:23WJ53LT4:4:2428:5199:15895,LH00995:41:23WJ53LT4:5:1298:30164:28758,LH00995:41:23WJ53LT4:6:2485:4414:8735,LH00995:41:23WJ53LT4:6:2496:13540:15629,LH00995:41:23WJ53LT4:8:1180:8807:11187,LH00995:41:23WJ53LT4:8:2168:21589:8160,LH00995:41:23WJ53LT4:8:2202:18644:14522

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

148

103

high

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(9),mismatches(3),multimappers(1)

GTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCC

LH00995:41:23WJ53LT4:2:1248:33603:28240,LH00995:41:23WJ53LT4:2:1248:33603:28240,LH00995:41:23WJ53LT4:2:1248:33603:28240,LH00995:41:23WJ53LT4:2:1248:33603:28240,LH00995:41:23WJ53LT4:4:1420:15586:1546,LH00995:41:23WJ53LT4:4:1420:15586:1546,LH00995:41:23WJ53LT4:4:1420:15586:1546,LH00995:41:23WJ53LT4:4:1420:15586:1546,LH00995:41:23WJ53LT4:4:2205:48610:7656,LH00995:41:23WJ53LT4:7:1250:43545:18221,LH00995:41:23WJ53LT4:7:1250:43545:18221,LH00995:41:23WJ53LT4:7:1250:43545:18221,LH00995:41:23WJ53LT4:7:1250:43545:18221,LH00995:41:23WJ53LT4:1:1308:48513:20827,LH00995:41:23WJ53LT4:2:2312:1534:19776,LH00995:41:23WJ53LT4:5:2463:19186:22327,LH00995:41:23WJ53LT4:7:2126:4034:26264

PMS2P6

CCDC146

+/+

chr7:73097567

chr7:77241691

exon/splice-site

CDS/splice-site

deletion

219

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(1),multimappers(1)

GCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCCAGAAGCATTCTCCACGGAGGTCTCCAAAATGAGAGAACAACTTCTCAAGTATCAAAATGAATATAATGCAGTGAAGGAAA

LH00995:41:23WJ53LT4:6:2256:6898:11411,LH00995:41:23WJ53LT4:6:2256:6906:11425

KANSL1

LRRC37A2

-/-

+/+

chr17:46152904

chr17:46517362

exon/splice-site

CDS/splice-site

inversion

335

high

|LRRC37A/B_like_protein_1_C-terminal_domain(100%),Leucine_rich_repeat(100%)

ENSG00000120071.15

ENSG00000238083.8

ENST00000639356.1

ENST00000576629.5

upstream

duplicates(1)

GCCAAACTTGGAATCCTTGAGACCACGGAGCCAGTTGATGCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGA...GGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT___GGGTAACTACATTGGATGGATATGTCAAGATGGAGAAGGAGCAGATGAG...___GTATCTCCATACAGCCAAGAATAAAGAAAGAAAGGGATAGATGGAATGAGTTTCATCGTGATT|AAATTTCCAAGGAAACTATATTTCTTACATTGATGGAAATGTATGGAAAGCATACAGTTGGACCGAGAAACT___AATTCTCAGAGAAAATAACTTGACTGAATTACACAAGGATTCATTTGAAGGCCTGCTATCCCTCCAGTATTT___AGATTTATCCTGCAATAAAATACAGTCTATTGAAAGACATACATTTG

LH00995:41:23WJ53LT4:2:1482:3346:1532,LH00995:41:23WJ53LT4:6:1487:42566:10052,LH00995:41:23WJ53LT4:4:2356:2246:25297,LH00995:41:23WJ53LT4:8:2465:37494:14634

KANSL1

LRRC37A2

-/-

+/+

chr17:46170855

chr17:46517362

CDS/splice-site

inversion

792

335

low

in-frame

|LRRC37A/B_like_protein_1_C-terminal_domain(100%),Leucine_rich_repeat(100%)

ENSG00000120071.15

ENSG00000238083.8

ENST00000574590.6

ENST00000576629.5

upstream

duplicates(1)

TGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AAATTTCCAAGGAAACTATATTTCTTACATTGATGGAAATGTATGGAAAGCATACAGTTGGACCGAGAAACT___AATTCTCAATCACAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAAATTGCC

DSSSGGESDIEEEELTRADPEQRHVPl|NFQGNYISYIDGNVWKAYSWTEKLILNHNPLTTVEDPYLFKL

LH00995:41:23WJ53LT4:7:1288:31435:10753,LH00995:41:23WJ53LT4:7:1288:31443:10767

KANSL1

LRRC37A2

-/-

+/+

chr17:46152904

chr17:46540176

exon/splice-site

CDS/splice-site

inversion

635

low

|LRRC37A/B_like_protein_1_C-terminal_domain(100%)

ENSG00000120071.15

ENSG00000238083.8

ENST00000639356.1

ENST00000576629.5

upstream

multimappers(1)

ACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT___GTATCTCCATACAGCCAAGAATAAAGAAAGAAAGGGATAGATGGAATGAGTTTCATCGTGATT|AATTCTCAATCgCAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAA

LH00995:41:23WJ53LT4:6:2187:9583:21360

MFAP4

-/-

chr17:19386810

chr17:19386812

CDS

duplication/ITD

181

169

2503

4165

medium

in-frame

|Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%)

ENSG00000166482.12

ENST00000299610.5

ENST00000395592.6

upstream

downstream

duplicates(238),low_entropy(14)

CAGCCACTCTGAGCAGAACTGACAGCATGAAG___GCACTCCTGGCCCTGCCGCTGCTGCTGCT|GCTTCTCTCCACGCCCCCGTGTGCCCCCCAGGTCTCCGGGATCCGAGGAGATG___CTCTGGAGAGGTTTTGCCTTCAGCAACCCCTGGACTGTGACGACATCTATGCCCAGGGCTACCAGTCAGACGGCGTGTACCTCATCTACCCCTCGGGCCCCAGTGTGCCTGTGCCCGTCTTCTGTGACATGACCACCGAGGGCGGGAAGTGGACG

MKALLALPLLLl|LLSTPPCAPQVSGIRGDALERFCLQQPLDCDDIYAQGYQSDGVYLIYPSGPSVPVPVFCDMTTEGGKW

LH00995:41:23WJ53LT4:1:1123:21363:12924,LH00995:41:23WJ53LT4:1:1130:20861:7964,LH00995:41:23WJ53LT4:1:1132:10457:10795,LH00995:41:23WJ53LT4:1:1133:6040:14942,LH00995:41:23WJ53LT4:1:1142:32745:11089,LH00995:41:23WJ53LT4:1:1142:47412:19146,LH00995:41:23WJ53LT4:1:1145:49427:21514,LH00995:41:23WJ53LT4:1:1170:23587:6437,LH00995:41:23WJ53LT4:1:1196:42178:18067,LH00995:41:23WJ53LT4:1:1215:10692:16610,LH00995:41:23WJ53LT4:1:1234:11088:27105,LH00995:41:23WJ53LT4:1:1234:11096:27119,LH00995:41:23WJ53LT4:1:1237:22236:16063,LH00995:41:23WJ53LT4:1:1274:13863:24344,LH00995:41:23WJ53LT4:1:1306:22738:18361,LH00995:41:23WJ53LT4:1:1337:27883:11691,LH00995:41:23WJ53LT4:1:1363:36402:23588,LH00995:41:23WJ53LT4:1:1403:47275:8679,LH00995:41:23WJ53LT4:1:1470:14785:4643,LH00995:41:23WJ53LT4:1:1470:25691:25662,LH00995:41:23WJ53LT4:1:1484:19793:2443,LH00995:41:23WJ53LT4:1:1490:7383:10094,LH00995:41:23WJ53LT4:1:1496:32405:26250,LH00995:41:23WJ53LT4:1:2118:11994:6255,LH00995:41:23WJ53LT4:1:2123:6647:6661,LH00995:41:23WJ53LT4:1:2124:19753:6773,LH00995:41:23WJ53LT4:1:2125:45463:3410,LH00995:41:23WJ53LT4:1:2130:27204:26460,LH00995:41:23WJ53LT4:1:2158:42251:11691,LH00995:41:23WJ53LT4:1:2162:13095:3704,LH00995:41:23WJ53LT4:1:2169:41191:16414,LH00995:41:23WJ53LT4:1:2174:48869:6114,LH00995:41:23WJ53LT4:1:2184:18806:25003,LH00995:41:23WJ53LT4:1:2185:12690:24162,LH00995:41:23WJ53LT4:1:2238:31103:29011,LH00995:41:23WJ53LT4:1:2249:37785:24190,LH00995:41:23WJ53LT4:1:2252:9406:4769,LH00995:41:23WJ53LT4:1:2276:30124:17338,LH00995:41:23WJ53LT4:1:2365:20545:23195,LH00995:41:23WJ53LT4:1:2368:28320:28758,LH00995:41:23WJ53LT4:1:2391:21961:26825,LH00995:41:23WJ53LT4:1:2406:20181:17408,LH00995:41:23WJ53LT4:1:2410:7019:25241,LH00995:41:23WJ53LT4:1:2422:39678:21500,LH00995:41:23WJ53LT4:1:2440:23393:17871,LH00995:41:23WJ53LT4:1:2441:46296:2079,LH00995:41:23WJ53LT4:1:2451:1340:27763,LH00995:41:23WJ53LT4:1:2458:1550:20225,LH00995:41:23WJ53LT4:1:2458:6817:22817,LH00995:41:23WJ53LT4:1:2466:50211:12868,LH00995:41:23WJ53LT4:1:2472:20254:15096,LH00995:41:23WJ53LT4:1:2477:24526:4531,LH00995:41:23WJ53LT4:1:2485:36119:24274,LH00995:41:23WJ53LT4:2:1201:2302:21640,LH00995:41:23WJ53LT4:2:1210:33417:6899,LH00995:41:23WJ53LT4:2:1236:38869:20659,LH00995:41:23WJ53LT4:2:1247:42914:5330,LH00995:41:23WJ53LT4:2:1247:46620:14410,LH00995:41:23WJ53LT4:2:1248:44298:6185,LH00995:41:23WJ53LT4:2:1251:42397:20351,LH00995:41:23WJ53LT4:2:1261:42000:25746,LH00995:41:23WJ53LT4:2:1281:24202:25213,LH00995:41:23WJ53LT4:2:1340:35099:3508,LH00995:41:23WJ53LT4:2:1388:51740:9772,LH00995:41:23WJ53LT4:2:1398:37745:19244,LH00995:41:23WJ53LT4:2:1408:13637:21430,LH00995:41:23WJ53LT4:2:1412:43214:10781,LH00995:41:23WJ53LT4:2:1433:12949:6703,LH00995:41:23WJ53LT4:2:1453:32648:20505,LH00995:41:23WJ53LT4:2:1456:12019:26194,LH00995:41:23WJ53LT4:2:1458:48933:28058,LH00995:41:23WJ53LT4:2:1484:36782:20239,LH00995:41:23WJ53LT4:2:1484:36790:20253,LH00995:41:23WJ53LT4:2:1489:17746:6661,LH00995:41:23WJ53LT4:2:1493:18588:22999,LH00995:41:23WJ53LT4:2:1494:36798:17661,LH00995:41:23WJ53LT4:2:2102:39961:11677,LH00995:41:23WJ53LT4:2:2106:28749:15405,LH00995:41:23WJ53LT4:2:2108:35698:7824,LH00995:41:23WJ53LT4:2:2123:20845:2219,LH00995:41:23WJ53LT4:2:2133:39759:3228,LH00995:41:23WJ53LT4:2:2157:20254:11173,LH00995:41:23WJ53LT4:2:2205:3783:21262,LH00995:41:23WJ53LT4:2:2209:2561:27077,LH00995:41:23WJ53LT4:2:2210:20529:5092,LH00995:41:23WJ53LT4:2:2255:51781:20463,LH00995:41:23WJ53LT4:2:2285:32502:24036,LH00995:41:23WJ53LT4:2:2290:51126:29333,LH00995:41:23WJ53LT4:2:2331:50503:15587,LH00995:41:23WJ53LT4:2:2362:23676:22733,LH00995:41:23WJ53LT4:2:2402:41790:5960,LH00995:41:23WJ53LT4:2:2429:1963:2219,LH00995:41:23WJ53LT4:2:2485:51781:9870,LH00995:41:23WJ53LT4:3:1119:45123:26082,LH00995:41:23WJ53LT4:3:1135:7553:10388,LH00995:41:23WJ53LT4:3:1138:40520:25227,LH00995:41:23WJ53LT4:3:1184:6153:20883,LH00995:41:23WJ53LT4:3:1220:13920:9926,LH00995:41:23WJ53LT4:3:1244:12504:28072,LH00995:41:23WJ53LT4:3:1270:20893:28534,LH00995:41:23WJ53LT4:3:1308:30003:23125,LH00995:41:23WJ53LT4:3:1315:44629:1603,LH00995:41:23WJ53LT4:3:1352:27681:12910,LH00995:41:23WJ53LT4:3:1361:6979:12448,LH00995:41:23WJ53LT4:3:1403:50300:24092,LH00995:41:23WJ53LT4:3:1407:38974:6241,LH00995:41:23WJ53LT4:3:1411:33101:25129,LH00995:41:23WJ53LT4:3:1414:35933:1504,LH00995:41:23WJ53LT4:3:1429:3273:25788,LH00995:41:23WJ53LT4:3:1443:5603:28898,LH00995:41:23WJ53LT4:3:1459:43206:23994,LH00995:41:23WJ53LT4:3:1491:9778:26516,LH00995:41:23WJ53LT4:3:2103:21419:13975,LH00995:41:23WJ53LT4:3:2143:4511:3130,LH00995:41:23WJ53LT4:3:2166:24469:8441,LH00995:41:23WJ53LT4:3:2170:28781:16077,LH00995:41:23WJ53LT4:3:2172:44039:15769,LH00995:41:23WJ53LT4:3:2191:17843:14676,LH00995:41:23WJ53LT4:3:2223:4802:14788,LH00995:41:23WJ53LT4:3:2254:11396:9618,LH00995:41:23WJ53LT4:3:2256:16322:6465,LH00995:41:23WJ53LT4:3:2257:11768:26628,LH00995:41:23WJ53LT4:3:2266:15805:10809,LH00995:41:23WJ53LT4:3:2296:35196:9477,LH00995:41:23WJ53LT4:3:2304:43464:5022,LH00995:41:23WJ53LT4:3:2326:33546:29291,LH00995:41:23WJ53LT4:3:2331:22665:17731,LH00995:41:23WJ53LT4:3:2336:25804:8090,LH00995:41:23WJ53LT4:3:2347:51296:4181,LH00995:41:23WJ53LT4:3:2351:5191:21402,LH00995:41:23WJ53LT4:3:2397:39549:18669,LH00995:41:23WJ53LT4:3:2458:28822:3620,LH00995:41:23WJ53LT4:3:2469:48852:2247,LH00995:41:23WJ53LT4:3:2469:48869:2247,LH00995:41:23WJ53LT4:3:2472:17099:8791,LH00995:41:23WJ53LT4:3:2472:37340:15741,LH00995:41:23WJ53LT4:3:2490:43837:13569,LH00995:41:23WJ53LT4:4:1118:19049:27525,LH00995:41:23WJ53LT4:4:1128:26435:15965,LH00995:41:23WJ53LT4:4:1162:48302:16540,LH00995:41:23WJ53LT4:4:1205:6218:4965,LH00995:41:23WJ53LT4:4:1209:25157:25241,LH00995:41:23WJ53LT4:4:1252:33748:4839,LH00995:41:23WJ53LT4:4:1265:15894:5722,LH00995:41:23WJ53LT4:4:1288:22382:20379,LH00995:41:23WJ53LT4:4:1306:20157:1560,LH00995:41:23WJ53LT4:4:1312:38449:7628,LH00995:41:23WJ53LT4:4:1318:32211:9407,LH00995:41:23WJ53LT4:4:1323:24744:22789,LH00995:41:23WJ53LT4:4:1325:14688:9099,LH00995:41:23WJ53LT4:4:1330:49815:13527,LH00995:41:23WJ53LT4:4:1356:44346:11397,LH00995:41:23WJ53LT4:4:1389:5312:13009,LH00995:41:23WJ53LT4:4:1401:14340:8300,LH00995:41:23WJ53LT4:4:1402:43351:29403,LH00995:41:23WJ53LT4:4:1404:18385:22705,LH00995:41:23WJ53LT4:4:1474:23345:18768,LH00995:41:23WJ53LT4:4:1488:24154:28969,LH00995:41:23WJ53LT4:4:2111:6809:24457,LH00995:41:23WJ53LT4:4:2170:9001:12504,LH00995:41:23WJ53LT4:4:2173:23142:10570,LH00995:41:23WJ53LT4:4:2183:52096:17591,LH00995:41:23WJ53LT4:4:2208:10716:16736,LH00995:41:23WJ53LT4:4:2232:1477:4461,LH00995:41:23WJ53LT4:4:2238:28506:23840,LH00995:41:23WJ53LT4:4:2245:34954:25059,LH00995:41:23WJ53LT4:4:2266:42316:25956,LH00995:41:23WJ53LT4:4:2280:13742:29263,LH00995:41:23WJ53LT4:4:2281:16598:17170,LH00995:41:23WJ53LT4:4:2309:20295:11299,LH00995:41:23WJ53LT4:4:2312:20578:27679,LH00995:41:23WJ53LT4:4:2321:47518:13471,LH00995:41:23WJ53LT4:4:2326:48464:13093,LH00995:41:23WJ53LT4:4:2379:10498:25718,LH00995:41:23WJ53LT4:4:2412:1251:6002,LH00995:41:23WJ53LT4:4:2417:25092:15517,LH00995:41:23WJ53LT4:4:2432:46247:20323,LH00995:41:23WJ53LT4:4:2438:3783:15405,LH00995:41:23WJ53LT4:4:2442:3289:7964,LH00995:41:23WJ53LT4:4:2452:37623:28254,LH00995:41:23WJ53LT4:4:2455:48019:24513,LH00995:41:23WJ53LT4:4:2456:42405:10697,LH00995:41:23WJ53LT4:4:2494:46870:7978,LH00995:41:23WJ53LT4:5:1104:25683:1883,LH00995:41:23WJ53LT4:5:1128:47073:27777,LH00995:41:23WJ53LT4:5:1145:12925:8875,LH00995:41:23WJ53LT4:5:1173:14802:14984,LH00995:41:23WJ53LT4:5:1175:20020:16428,LH00995:41:23WJ53LT4:5:1178:37510:21220,LH00995:41:23WJ53LT4:5:1190:15327:5778,LH00995:41:23WJ53LT4:5:1205:5611:12350,LH00995:41:23WJ53LT4:5:1242:24137:14536,LH00995:41:23WJ53LT4:5:1252:4236:18375,LH00995:41:23WJ53LT4:5:1276:13095:3060,LH00995:41:23WJ53LT4:5:1281:32664:17591,LH00995:41:23WJ53LT4:5:1282:13798:9323,LH00995:41:23WJ53LT4:5:1306:16088:6199,LH00995:41:23WJ53LT4:5:1318:49305:28338,LH00995:41:23WJ53LT4:5:1327:15861:12364,LH00995:41:23WJ53LT4:5:1327:1777:25662,LH00995:41:23WJ53LT4:5:1370:39290:26292,LH00995:41:23WJ53LT4:5:1426:51004:16147,LH00995:41:23WJ53LT4:5:1428:45916:25157,LH00995:41:23WJ53LT4:5:1446:26063:15937,LH00995:41:23WJ53LT4:5:1450:1113:3074,LH00995:41:23WJ53LT4:5:1466:14737:1560,LH00995:41:23WJ53LT4:5:2106:24607:10640,LH00995:41:23WJ53LT4:5:2117:13345:14620,LH00995:41:23WJ53LT4:5:2142:42486:29193,LH00995:41:23WJ53LT4:5:2152:23070:8931,LH00995:41:23WJ53LT4:5:2212:21896:17605,LH00995:41:23WJ53LT4:5:2212:22633:12602,LH00995:41:23WJ53LT4:5:2232:15287:21318,LH00995:41:23WJ53LT4:5:2256:20966:1729,LH00995:41:23WJ53LT4:5:2265:44201:5512,LH00995:41:23WJ53LT4:5:2278:17301:18165,LH00995:41:23WJ53LT4:5:2309:2125:29179,LH00995:41:23WJ53LT4:5:2322:46522:21164,LH00995:41:23WJ53LT4:5:2337:30173:4139,LH00995:41:23WJ53LT4:5:2337:49783:3270,LH00995:41:23WJ53LT4:5:2365:24307:6423,LH00995:41:23WJ53LT4:5:2401:28360:10668,LH00995:41:23WJ53LT4:5:2408:19518:19622,LH00995:41:23WJ53LT4:5:2430:28368:23125,LH00995:41:23WJ53LT4:5:2452:51530:7894,LH00995:41:23WJ53LT4:5:2475:8774:1827,LH00995:41:23WJ53LT4:5:2484:18118:24569,LH00995:41:23WJ53LT4:6:1128:26572:8749,LH00995:41:23WJ53LT4:6:1159:1016:6493,LH00995:41:23WJ53LT4:6:1188:18353:3340,LH00995:41:23WJ53LT4:6:1231:39484:19398,LH00995:41:23WJ53LT4:6:1239:22989:21290,LH00995:41:23WJ53LT4:6:1256:35949:14564,LH00995:41:23WJ53LT4:6:1263:37939:23840,LH00995:41:23WJ53LT4:6:1281:23393:1589,LH00995:41:23WJ53LT4:6:1301:47412:22789,LH00995:41:23WJ53LT4:6:1340:50187:21990,LH00995:41:23WJ53LT4:6:1359:16848:17044,LH00995:41:23WJ53LT4:6:1361:51126:10893,LH00995:41:23WJ53LT4:6:1384:27082:7418,LH00995:41:23WJ53LT4:6:1416:47121:15755,LH00995:41:23WJ53LT4:6:1428:5522:21864,LH00995:41:23WJ53LT4:6:1440:6768:16680,LH00995:41:23WJ53LT4:6:2142:51514:21290,LH00995:41:23WJ53LT4:6:2148:42308:14592,LH00995:41:23WJ53LT4:6:2221:13515:14662,LH00995:41:23WJ53LT4:6:2228:30941:22621,LH00995:41:23WJ53LT4:6:2232:22519:21682,LH00995:41:23WJ53LT4:6:2236:34258:11888,LH00995:41:23WJ53LT4:6:2237:18571:28464,LH00995:41:23WJ53LT4:6:2254:29978:22355,LH00995:41:23WJ53LT4:6:2277:15238:1252,LH00995:41:23WJ53LT4:6:2318:37931:26152,LH00995:41:23WJ53LT4:6:2360:22487:28716,LH00995:41:23WJ53LT4:6:2371:39031:18165,LH00995:41:23WJ53LT4:6:2380:26022:21836,LH00995:41:23WJ53LT4:6:2385:24914:18403,LH00995:41:23WJ53LT4:6:2391:34282:15741,LH00995:41:23WJ53LT4:6:2396:9689:8427,LH00995:41:23WJ53LT4:6:2418:47396:16876,LH00995:41:23WJ53LT4:6:2419:19283:14200,LH00995:41:23WJ53LT4:6:2460:8694:14914,LH00995:41:23WJ53LT4:6:2491:5142:16049,LH00995:41:23WJ53LT4:6:2491:5158:16049,LH00995:41:23WJ53LT4:7:1117:33053:3859,LH00995:41:23WJ53LT4:7:1133:8766:20281,LH00995:41:23WJ53LT4:7:1154:5280:16848,LH00995:41:23WJ53LT4:7:1165:16525:13597,LH00995:41:23WJ53LT4:7:1176:32535:9660,LH00995:41:23WJ53LT4:7:1188:32365:13877,LH00995:41:23WJ53LT4:7:1188:32373:13863,LH00995:41:23WJ53LT4:7:1202:27519:10556,LH00995:41:23WJ53LT4:7:1221:25772:17787,LH00995:41:23WJ53LT4:7:1251:45770:9211,LH00995:41:23WJ53LT4:7:1346:20376:28114,LH00995:41:23WJ53LT4:7:1346:21621:26572,LH00995:41:23WJ53LT4:7:1350:7326:26446,LH00995:41:23WJ53LT4:7:1350:7334:26460,LH00995:41:23WJ53LT4:7:1356:3443:26194,LH00995:41:23WJ53LT4:7:1364:6145:11986,LH00995:41:23WJ53LT4:7:1367:15869:19945,LH00995:41:23WJ53LT4:7:1419:43950:17717,LH00995:41:23WJ53LT4:7:1438:3200:14396,LH00995:41:23WJ53LT4:7:1455:6623:24723,LH00995:41:23WJ53LT4:7:1468:15805:15068,LH00995:41:23WJ53LT4:7:1471:51740:22803,LH00995:41:23WJ53LT4:7:2108:27883:20631,LH00995:41:23WJ53LT4:7:2176:15158:10472,LH00995:41:23WJ53LT4:7:2207:21605:8805,LH00995:41:23WJ53LT4:7:2230:13362:29613,LH00995:41:23WJ53LT4:7:2233:38530:28814,LH00995:41:23WJ53LT4:7:2246:5644:2373,LH00995:41:23WJ53LT4:7:2254:50940:23294,LH00995:41:23WJ53LT4:7:2261:1437:17815,LH00995:41:23WJ53LT4:7:2311:16589:9141,LH00995:41:23WJ53LT4:7:2312:6655:14101,LH00995:41:23WJ53LT4:7:2316:3783:25634,LH00995:41:23WJ53LT4:7:2321:12083:15993,LH00995:41:23WJ53LT4:7:2330:30755:26082,LH00995:41:23WJ53LT4:7:2342:3872:22341,LH00995:41:23WJ53LT4:1:1112:21937:3578,LH00995:41:23WJ53LT4:1:1112:21945:3564,LH00995:41:23WJ53LT4:1:1117:7529:11747,LH00995:41:23WJ53LT4:1:1159:31604:3957,LH00995:41:23WJ53LT4:1:1159:31613:3971,LH00995:41:23WJ53LT4:1:1172:39646:1294,LH00995:41:23WJ53LT4:1:1172:39654:1308,LH00995:41:23WJ53LT4:1:1190:29137:17535,LH00995:41:23WJ53LT4:1:1192:10951:24821,LH00995:41:23WJ53LT4:1:1195:30601:7852,LH00995:41:23WJ53LT4:1:1231:19170:26839,LH00995:41:23WJ53LT4:1:1265:22228:23868,LH00995:41:23WJ53LT4:1:1265:22244:23868,LH00995:41:23WJ53LT4:1:1273:12132:15124,LH00995:41:23WJ53LT4:1:1284:40560:18824,LH00995:41:23WJ53LT4:1:1349:26597:17282,LH00995:41:23WJ53LT4:1:1357:1566:23868,LH00995:41:23WJ53LT4:1:1374:35334:6297,LH00995:41:23WJ53LT4:1:1401:24315:25550,LH00995:41:23WJ53LT4:1:1401:29153:3859,LH00995:41:23WJ53LT4:1:1436:27066:7390,LH00995:41:23WJ53LT4:1:1447:50834:13779,LH00995:41:23WJ53LT4:1:1450:1777:9716,LH00995:41:23WJ53LT4:1:1460:20230:14718,LH00995:41:23WJ53LT4:1:1472:45155:11061,LH00995:41:23WJ53LT4:1:1472:45163:11047,LH00995:41:23WJ53LT4:1:2204:48804:22789,LH00995:41:23WJ53LT4:1:2208:20958:27497,LH00995:41:23WJ53LT4:1:2256:37801:20968,LH00995:41:23WJ53LT4:1:2269:15052:28422,LH00995:41:23WJ53LT4:1:2271:9454:6171,LH00995:41:23WJ53LT4:1:2281:48739:21248,LH00995:41:23WJ53LT4:1:2307:42720:27525,LH00995:41:23WJ53LT4:1:2324:13143:25732,LH00995:41:23WJ53LT4:1:2371:20667:5218,LH00995:41:23WJ53LT4:1:2380:12844:25017,LH00995:41:23WJ53LT4:1:2380:42502:11257,LH00995:41:23WJ53LT4:1:2432:35471:9477,LH00995:41:23WJ53LT4:1:2433:37939:1617,LH00995:41:23WJ53LT4:1:2433:37947:1603,LH00995:41:23WJ53LT4:1:2433:37955:1617,LH00995:41:23WJ53LT4:1:2433:37963:1631,LH00995:41:23WJ53LT4:1:2449:11566:18291,LH00995:41:23WJ53LT4:1:2452:47760:24260,LH00995:41:23WJ53LT4:1:2452:49127:10262,LH00995:41:23WJ53LT4:2:1121:8540:11117,LH00995:41:23WJ53LT4:2:1132:33983:9702,LH00995:41:23WJ53LT4:2:1178:30326:25648,LH00995:41:23WJ53LT4:2:1178:30334:25662,LH00995:41:23WJ53LT4:2:1187:10320:2766,LH00995:41:23WJ53LT4:2:1218:7504:24429,LH00995:41:23WJ53LT4:2:1240:19275:15447,LH00995:41:23WJ53LT4:2:1330:42235:7572,LH00995:41:23WJ53LT4:2:1339:18669:2373,LH00995:41:23WJ53LT4:2:1353:14308:28478,LH00995:41:23WJ53LT4:2:1374:26710:22579,LH00995:41:23WJ53LT4:2:1395:42858:13359,LH00995:41:23WJ53LT4:2:1459:10433:11817,LH00995:41:23WJ53LT4:2:1459:10441:11832,LH00995:41:23WJ53LT4:2:1466:17002:5568,LH00995:41:23WJ53LT4:2:1472:22285:20631,LH00995:41:23WJ53LT4:2:1477:38052:13583,LH00995:41:23WJ53LT4:2:1477:38060:13597,LH00995:41:23WJ53LT4:2:1491:50656:15629,LH00995:41:23WJ53LT4:2:2142:34274:21164,LH00995:41:23WJ53LT4:2:2142:34282:21178,LH00995:41:23WJ53LT4:2:2166:34404:7852,LH00995:41:23WJ53LT4:2:2169:46433:2261,LH00995:41:23WJ53LT4:2:2246:50584:8469,LH00995:41:23WJ53LT4:2:2249:3993:11593,LH00995:41:23WJ53LT4:2:2259:34501:11383,LH00995:41:23WJ53LT4:2:2273:18620:25325,LH00995:41:23WJ53LT4:2:2276:46878:22817,LH00995:41:23WJ53LT4:2:2282:36564:3466,LH00995:41:23WJ53LT4:2:2291:27778:7025,LH00995:41:23WJ53LT4:2:2329:16792:14816,LH00995:41:23WJ53LT4:2:2357:48885:27385,LH00995:41:23WJ53LT4:2:2403:49192:7151,LH00995:41:23WJ53LT4:2:2409:35107:8875,LH00995:41:23WJ53LT4:2:2411:8815:13555,LH00995:41:23WJ53LT4:2:2441:42534:8258,LH00995:41:23WJ53LT4:2:2441:42542:8244,LH00995:41:23WJ53LT4:2:2443:37308:6213,LH00995:41:23WJ53LT4:2:2466:11193:7866,LH00995:41:23WJ53LT4:2:2492:11468:12210,LH00995:41:23WJ53LT4:2:2492:11477:12224,LH00995:41:23WJ53LT4:3:1143:46741:23812,LH00995:41:23WJ53LT4:3:1158:10425:9225,LH00995:41:23WJ53LT4:3:1160:49257:7123,LH00995:41:23WJ53LT4:3:1189:41466:7334,LH00995:41:23WJ53LT4:3:1192:42170:7768,LH00995:41:23WJ53LT4:3:1192:42178:7754,LH00995:41:23WJ53LT4:3:1192:42186:7740,LH00995:41:23WJ53LT4:3:1196:40762:13261,LH00995:41:23WJ53LT4:3:1196:40770:13247,LH00995:41:23WJ53LT4:3:1206:19146:9786,LH00995:41:23WJ53LT4:3:1225:21354:12882,LH00995:41:23WJ53LT4:3:1225:21363:12868,LH00995:41:23WJ53LT4:3:1225:21371:12854,LH00995:41:23WJ53LT4:3:1225:21379:12840,LH00995:41:23WJ53LT4:3:1230:13240:15587,LH00995:41:23WJ53LT4:3:1234:37583:24485,LH00995:41:23WJ53LT4:3:1251:48116:24064,LH00995:41:23WJ53LT4:3:1304:19154:17450,LH00995:41:23WJ53LT4:3:1304:19162:17464,LH00995:41:23WJ53LT4:3:1354:47865:7768,LH00995:41:23WJ53LT4:3:1373:43392:6801,LH00995:41:23WJ53LT4:3:1386:18159:20015,LH00995:41:23WJ53LT4:3:1386:18167:20029,LH00995:41:23WJ53LT4:3:1386:18175:20015,LH00995:41:23WJ53LT4:3:1389:3047:17044,LH00995:41:23WJ53LT4:3:1405:31661:25634,LH00995:41:23WJ53LT4:3:1441:37518:22271,LH00995:41:23WJ53LT4:3:1444:27220:5330,LH00995:41:23WJ53LT4:3:1472:25820:20954,LH00995:41:23WJ53LT4:3:1481:43278:20449,LH00995:41:23WJ53LT4:3:2103:36750:29683,LH00995:41:23WJ53LT4:3:2114:46992:17436,LH00995:41:23WJ53LT4:3:2130:20950:12686,LH00995:41:23WJ53LT4:3:2130:29436:22677,LH00995:41:23WJ53LT4:3:2137:17714:17142,LH00995:41:23WJ53LT4:3:2137:17787:24050,LH00995:41:23WJ53LT4:3:2173:28611:19314,LH00995:41:23WJ53LT4:3:2183:27810:8202,LH00995:41:23WJ53LT4:3:2212:11161:10837,LH00995:41:23WJ53LT4:3:2222:3799:27876,LH00995:41:23WJ53LT4:3:2229:21759:15236,LH00995:41:23WJ53LT4:3:2245:41037:26797,LH00995:41:23WJ53LT4:3:2252:27390:28492,LH00995:41:23WJ53LT4:3:2328:1154:11215,LH00995:41:23WJ53LT4:3:2329:41029:29333,LH00995:41:23WJ53LT4:3:2344:41337:2990,LH00995:41:23WJ53LT4:3:2354:13451:11299,LH00995:41:23WJ53LT4:3:2372:10312:29515,LH00995:41:23WJ53LT4:3:2373:5992:28002,LH00995:41:23WJ53LT4:3:2386:20036:10739,LH00995:41:23WJ53LT4:3:2408:33133:10725,LH00995:41:23WJ53LT4:3:2418:24987:6086,LH00995:41:23WJ53LT4:3:2418:24995:6100,LH00995:41:23WJ53LT4:3:2418:25003:6086,LH00995:41:23WJ53LT4:3:2428:24404:23434,LH00995:41:23WJ53LT4:3:2431:16444:5918,LH00995:41:23WJ53LT4:3:2448:12528:19790,LH00995:41:23WJ53LT4:3:2483:30650:5498,LH00995:41:23WJ53LT4:3:2491:8815:20365,LH00995:41:23WJ53LT4:4:1123:45268:18123,LH00995:41:23WJ53LT4:4:1123:45277:18109,LH00995:41:23WJ53LT4:4:1124:46118:23350,LH00995:41:23WJ53LT4:4:1133:41547:22131,LH00995:41:23WJ53LT4:4:1135:13281:11733,LH00995:41:23WJ53LT4:4:1159:16913:14746,LH00995:41:23WJ53LT4:4:1182:48310:12742,LH00995:41:23WJ53LT4:4:1195:22673:26152,LH00995:41:23WJ53LT4:4:1281:11201:14017,LH00995:41:23WJ53LT4:4:1333:22803:24611,LH00995:41:23WJ53LT4:4:1368:15344:9449,LH00995:41:23WJ53LT4:4:1408:41628:9071,LH00995:41:23WJ53LT4:4:1413:51563:17422,LH00995:41:23WJ53LT4:4:1427:8548:27133,LH00995:41:23WJ53LT4:4:1483:32616:27763,LH00995:41:23WJ53LT4:4:1486:48901:19790,LH00995:41:23WJ53LT4:4:1493:37308:11257,LH00995:41:23WJ53LT4:4:2110:42210:25437,LH00995:41:23WJ53LT4:4:2126:18458:4111,LH00995:41:23WJ53LT4:4:2142:7747:11874,LH00995:41:23WJ53LT4:4:2163:40099:11635,LH00995:41:23WJ53LT4:4:2168:7229:23532,LH00995:41:23WJ53LT4:4:2230:12593:22285,LH00995:41:23WJ53LT4:4:2242:30084:3312,LH00995:41:23WJ53LT4:4:2260:21605:6535,LH00995:41:23WJ53LT4:4:2283:42680:18207,LH00995:41:23WJ53LT4:4:2357:5320:5960,LH00995:41:23WJ53LT4:4:2357:5336:5960,LH00995:41:23WJ53LT4:4:2372:22762:28772,LH00995:41:23WJ53LT4:4:2483:40301:22327,LH00995:41:23WJ53LT4:4:2494:37551:13219,LH00995:41:23WJ53LT4:5:1110:19979:26783,LH00995:41:23WJ53LT4:5:1110:29121:18459,LH00995:41:23WJ53LT4:5:1128:5700:7544,LH00995:41:23WJ53LT4:5:1139:48602:24036,LH00995:41:23WJ53LT4:5:1142:18620:8314,LH00995:41:23WJ53LT4:5:1153:29986:23882,LH00995:41:23WJ53LT4:5:1180:41215:6058,LH00995:41:23WJ53LT4:5:1187:28822:18950,LH00995:41:23WJ53LT4:5:1251:40495:27231,LH00995:41:23WJ53LT4:5:1259:28983:19314,LH00995:41:23WJ53LT4:5:1262:8791:2780,LH00995:41:23WJ53LT4:5:1262:8807:2780,LH00995:41:23WJ53LT4:5:1282:51336:24765,LH00995:41:23WJ53LT4:5:1285:1510:18025,LH00995:41:23WJ53LT4:5:1289:39897:20085,LH00995:41:23WJ53LT4:5:1350:28061:5302,LH00995:41:23WJ53LT4:5:1350:28069:5316,LH00995:41:23WJ53LT4:5:1350:33392:13079,LH00995:41:23WJ53LT4:5:1370:5417:24485,LH00995:41:23WJ53LT4:5:1398:43974:7782,LH00995:41:23WJ53LT4:5:1466:26119:17661,LH00995:41:23WJ53LT4:5:1475:51813:17240,LH00995:41:23WJ53LT4:5:1481:19615:18389,LH00995:41:23WJ53LT4:5:1488:21621:26460,LH00995:41:23WJ53LT4:5:1488:5822:23560,LH00995:41:23WJ53LT4:5:2110:5183:29095,LH00995:41:23WJ53LT4:5:2127:8370:18333,LH00995:41:23WJ53LT4:5:2138:43416:8833,LH00995:41:23WJ53LT4:5:2145:29105:10500,LH00995:41:23WJ53LT4:5:2157:10166:4825,LH00995:41:23WJ53LT4:5:2170:35018:19174,LH00995:41:23WJ53LT4:5:2175:21168:13121,LH00995:41:23WJ53LT4:5:2196:44702:8539,LH00995:41:23WJ53LT4:5:2211:13362:15180,LH00995:41:23WJ53LT4:5:2245:37591:29739,LH00995:41:23WJ53LT4:5:2255:21096:28324,LH00995:41:23WJ53LT4:5:2255:35245:9001,LH00995:41:23WJ53LT4:5:2256:31977:26068,LH00995:41:23WJ53LT4:5:2256:31985:26054,LH00995:41:23WJ53LT4:5:2258:16201:22060,LH00995:41:23WJ53LT4:5:2261:9883:18627,LH00995:41:23WJ53LT4:5:2314:34404:28058,LH00995:41:23WJ53LT4:5:2321:16355:29305,LH00995:41:23WJ53LT4:5:2336:21241:24036,LH00995:41:23WJ53LT4:5:2336:28878:25017,LH00995:41:23WJ53LT4:5:2347:4754:4531,LH00995:41:23WJ53LT4:5:2377:25505:22873,LH00995:41:23WJ53LT4:5:2428:9899:7193,LH00995:41:23WJ53LT4:5:2432:32171:8609,LH00995:41:23WJ53LT4:5:2483:10304:23644,LH00995:41:23WJ53LT4:5:2490:30650:25620,LH00995:41:23WJ53LT4:5:2491:40795:11439,LH00995:41:23WJ53LT4:6:1110:49216:19664,LH00995:41:23WJ53LT4:6:1123:41159:2037,LH00995:41:23WJ53LT4:6:1150:9422:15951,LH00995:41:23WJ53LT4:6:1193:44985:19678,LH00995:41:23WJ53LT4:6:1210:51012:15124,LH00995:41:23WJ53LT4:6:1227:30933:28212,LH00995:41:23WJ53LT4:6:1227:30949:28212,LH00995:41:23WJ53LT4:6:1230:37882:11523,LH00995:41:23WJ53LT4:6:1263:49111:9646,LH00995:41:23WJ53LT4:6:1295:4357:17352,LH00995:41:23WJ53LT4:6:1305:36103:11775,LH00995:41:23WJ53LT4:6:1327:5903:2513,LH00995:41:23WJ53LT4:6:1329:26241:25802,LH00995:41:23WJ53LT4:6:1347:50058:12182,LH00995:41:23WJ53LT4:6:1429:21257:17899,LH00995:41:23WJ53LT4:6:1429:21265:17885,LH00995:41:23WJ53LT4:6:1429:21274:17871,LH00995:41:23WJ53LT4:6:1435:12553:14620,LH00995:41:23WJ53LT4:6:1441:40479:6745,LH00995:41:23WJ53LT4:6:1446:14737:18571,LH00995:41:23WJ53LT4:6:1454:19283:28800,LH00995:41:23WJ53LT4:6:1492:7941:16498,LH00995:41:23WJ53LT4:6:2104:19664:26685,LH00995:41:23WJ53LT4:6:2115:37284:10991,LH00995:41:23WJ53LT4:6:2115:37300:10991,LH00995:41:23WJ53LT4:6:2115:37308:10977,LH00995:41:23WJ53LT4:6:2115:37324:10977,LH00995:41:23WJ53LT4:6:2129:17002:21402,LH00995:41:23WJ53LT4:6:2146:33805:26208,LH00995:41:23WJ53LT4:6:2161:6736:25816,LH00995:41:23WJ53LT4:6:2235:23927:10725,LH00995:41:23WJ53LT4:6:2238:41968:26951,LH00995:41:23WJ53LT4:6:2242:48642:4573,LH00995:41:23WJ53LT4:6:2282:27891:26334,LH00995:41:23WJ53LT4:6:2286:42615:23504,LH00995:41:23WJ53LT4:6:2324:38521:8342,LH00995:41:23WJ53LT4:6:2324:38530:8328,LH00995:41:23WJ53LT4:6:2355:49127:10682,LH00995:41:23WJ53LT4:6:2380:39274:10542,LH00995:41:23WJ53LT4:6:2455:26848:16091,LH00995:41:23WJ53LT4:6:2492:51490:17408,LH00995:41:23WJ53LT4:7:1123:42890:4531,LH00995:41:23WJ53LT4:7:1153:51158:26839,LH00995:41:23WJ53LT4:7:1178:13256:17044,LH00995:41:23WJ53LT4:7:1216:41474:3116,LH00995:41:23WJ53LT4:7:1223:36353:16610,LH00995:41:23WJ53LT4:7:1333:32567:5932,LH00995:41:23WJ53LT4:7:1338:28247:7978,LH00995:41:23WJ53LT4:7:1344:43456:18964,LH00995:41:23WJ53LT4:7:1348:15659:2822,LH00995:41:23WJ53LT4:7:1360:23628:23434,LH00995:41:23WJ53LT4:7:1369:34145:7320,LH00995:41:23WJ53LT4:7:1369:34153:7306,LH00995:41:23WJ53LT4:7:1382:30593:11817,LH00995:41:23WJ53LT4:7:1382:30601:11832,LH00995:41:23WJ53LT4:7:1382:30609:11846,LH00995:41:23WJ53LT4:7:1398:21104:9337,LH00995:41:23WJ53LT4:7:1401:27600:20982,LH00995:41:23WJ53LT4:7:1410:22689:12280,LH00995:41:23WJ53LT4:7:1411:14826:6423,LH00995:41:23WJ53LT4:7:1414:41337:6016,LH00995:41:23WJ53LT4:7:1416:4325:15559,LH00995:41:23WJ53LT4:7:1421:1550:6913,LH00995:41:23WJ53LT4:7:1444:27600:2681,LH00995:41:23WJ53LT4:7:1448:41240:13163,LH00995:41:23WJ53LT4:7:1464:45179:3844,LH00995:41:23WJ53LT4:7:2103:3241:25592,LH00995:41:23WJ53LT4:7:2142:48828:1841,LH00995:41:23WJ53LT4:7:2148:7569:6969,LH00995:41:23WJ53LT4:7:2186:28045:11663,LH00995:41:23WJ53LT4:7:2223:2917:4349,LH00995:41:23WJ53LT4:7:2240:23239:13233,LH00995:41:23WJ53LT4:5:2380:27438:3746,LH00995:41:23WJ53LT4:7:2288:46296:23602

UNKL

-/-

chr16:1366323

chr16:1366343

CDS

duplication/ITD

136

608

757

medium

in-frame

Unkempt_Zinc_finger_domain_1_(Znf1)(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%),Zinc_finger__C3HC4_type_(RING_finger)(44%)|Zinc_finger__C3HC4_type_(RING_finger)(73%)

ENSG00000059145.19

ENST00000389221.9

upstream

downstream

duplicates(235)

GCCGGGGCTGCGGGGCTGTGGGGACATCGGCACCATTCCCCTGCCGAAGCTGCACTCGCTGCAGAGTCAGCTGCGCCTGGACCTGGAGGCGGTGGACGGC___GTGATCTTCCAGCTCCGCGCCAAGCAGTGTGTGGCCTGCCGGGAGCGGGCCCACGGTGCTGTCCTGCGGCCCT|ACGGTGCTGTCCTGCGGCCCTGTCAGCACCACATCCTCTGTGAGCCGTGTGCGGCCACCGCACCTGAGTGCCCCTACTGCAAGGGCCAGCCCCTGCAGTGGTGACCTCAGCGGGGACAGCCACCTCCTGCTGGGCACCCTGGCTCCAGCGCTC

PGLRGCGDIGTIPLPKLHSLQSQLRLDLEAVDGVIFQLRAKQCVACRERAHGAVLRP|yGAVLRPCQHHILCEPCAATAPECPYCKGQPLQW*

LH00995:41:23WJ53LT4:1:1126:26459:23378,LH00995:41:23WJ53LT4:1:1235:51886:5708,LH00995:41:23WJ53LT4:1:1235:51886:5708,LH00995:41:23WJ53LT4:1:1304:25739:17563,LH00995:41:23WJ53LT4:1:1304:25747:17549,LH00995:41:23WJ53LT4:1:1304:25763:17549,LH00995:41:23WJ53LT4:1:1352:6000:4335,LH00995:41:23WJ53LT4:1:1352:6000:4335,LH00995:41:23WJ53LT4:1:1471:48666:6913,LH00995:41:23WJ53LT4:1:1496:14195:21024,LH00995:41:23WJ53LT4:1:1496:14195:21024,LH00995:41:23WJ53LT4:1:1496:14211:21024,LH00995:41:23WJ53LT4:1:1496:14211:21024,LH00995:41:23WJ53LT4:1:2126:17714:7165,LH00995:41:23WJ53LT4:1:2152:8653:26530,LH00995:41:23WJ53LT4:1:2285:17164:23167,LH00995:41:23WJ53LT4:1:2285:17164:23167,LH00995:41:23WJ53LT4:1:2427:24493:26418,LH00995:41:23WJ53LT4:2:1193:41814:11187,LH00995:41:23WJ53LT4:2:1193:41814:11187,LH00995:41:23WJ53LT4:2:1193:41822:11173,LH00995:41:23WJ53LT4:2:1193:41822:11173,LH00995:41:23WJ53LT4:2:1216:47493:1462,LH00995:41:23WJ53LT4:2:1216:47493:1462,LH00995:41:23WJ53LT4:2:1241:2917:20687,LH00995:41:23WJ53LT4:2:1289:23992:8511,LH00995:41:23WJ53LT4:2:1334:42332:11047,LH00995:41:23WJ53LT4:2:1334:42332:11047,LH00995:41:23WJ53LT4:2:1407:51239:8202,LH00995:41:23WJ53LT4:2:1472:19397:22495,LH00995:41:23WJ53LT4:2:1472:19397:22495,LH00995:41:23WJ53LT4:2:2145:27786:19118,LH00995:41:23WJ53LT4:2:2218:4471:23322,LH00995:41:23WJ53LT4:2:2218:4471:23322,LH00995:41:23WJ53LT4:2:2306:14543:13639,LH00995:41:23WJ53LT4:2:2357:42914:3256,LH00995:41:23WJ53LT4:2:2357:42914:3256,LH00995:41:23WJ53LT4:3:1147:40188:21094,LH00995:41:23WJ53LT4:3:1147:40188:21094,LH00995:41:23WJ53LT4:3:1166:49856:1434,LH00995:41:23WJ53LT4:3:1166:49872:1434,LH00995:41:23WJ53LT4:3:1319:22107:24583,LH00995:41:23WJ53LT4:3:1319:22123:24583,LH00995:41:23WJ53LT4:3:1369:45600:3873,LH00995:41:23WJ53LT4:3:1369:45600:3873,LH00995:41:23WJ53LT4:3:1377:10401:16582,LH00995:41:23WJ53LT4:3:1475:47793:20057,LH00995:41:23WJ53LT4:3:1478:32276:7558,LH00995:41:23WJ53LT4:3:1478:32276:7558,LH00995:41:23WJ53LT4:3:1489:15441:15166,LH00995:41:23WJ53LT4:3:1489:15441:15166,LH00995:41:23WJ53LT4:3:2241:18919:23658,LH00995:41:23WJ53LT4:3:2243:31871:7390,LH00995:41:23WJ53LT4:3:2244:35714:16203,LH00995:41:23WJ53LT4:3:2244:35714:16203,LH00995:41:23WJ53LT4:3:2246:29234:4699,LH00995:41:23WJ53LT4:3:2346:45713:28002,LH00995:41:23WJ53LT4:3:2351:8046:4237,LH00995:41:23WJ53LT4:3:2359:30771:5652,LH00995:41:23WJ53LT4:3:2433:28595:13541,LH00995:41:23WJ53LT4:3:2433:28603:13555,LH00995:41:23WJ53LT4:3:2475:4341:21528,LH00995:41:23WJ53LT4:4:1375:29800:18712,LH00995:41:23WJ53LT4:4:1409:3314:22383,LH00995:41:23WJ53LT4:4:2104:10643:20645,LH00995:41:23WJ53LT4:4:2114:39735:18431,LH00995:41:23WJ53LT4:4:2262:51328:25227,LH00995:41:23WJ53LT4:4:2262:51328:25227,LH00995:41:23WJ53LT4:4:2421:43642:19370,LH00995:41:23WJ53LT4:4:2451:23272:13569,LH00995:41:23WJ53LT4:4:2451:23272:13569,LH00995:41:23WJ53LT4:5:1122:20901:7334,LH00995:41:23WJ53LT4:5:1122:20901:7334,LH00995:41:23WJ53LT4:5:1193:9333:24793,LH00995:41:23WJ53LT4:5:1193:9333:24793,LH00995:41:23WJ53LT4:5:1274:28684:12546,LH00995:41:23WJ53LT4:5:1274:28684:12546,LH00995:41:23WJ53LT4:5:1371:27924:4083,LH00995:41:23WJ53LT4:5:1412:3476:20533,LH00995:41:23WJ53LT4:5:1412:3476:20533,LH00995:41:23WJ53LT4:5:1413:44646:10122,LH00995:41:23WJ53LT4:5:1413:44646:10122,LH00995:41:23WJ53LT4:5:2210:26702:12252,LH00995:41:23WJ53LT4:5:2234:46320:21542,LH00995:41:23WJ53LT4:5:2249:46353:12518,LH00995:41:23WJ53LT4:5:2265:1817:24471,LH00995:41:23WJ53LT4:5:2271:42728:12910,LH00995:41:23WJ53LT4:5:2271:42728:12910,LH00995:41:23WJ53LT4:5:2271:42728:12910,LH00995:41:23WJ53LT4:5:2271:42728:12910,LH00995:41:23WJ53LT4:5:2275:24291:20211,LH00995:41:23WJ53LT4:5:2275:24299:20225,LH00995:41:23WJ53LT4:5:2344:38133:12966,LH00995:41:23WJ53LT4:5:2416:39557:11145,LH00995:41:23WJ53LT4:6:1125:21031:17114,LH00995:41:23WJ53LT4:6:1130:14543:26306,LH00995:41:23WJ53LT4:6:1149:34363:22467,LH00995:41:23WJ53LT4:6:1176:32074:26124,LH00995:41:23WJ53LT4:6:1176:32074:26124,LH00995:41:23WJ53LT4:6:1228:25278:9141,LH00995:41:23WJ53LT4:6:1228:25286:9155,LH00995:41:23WJ53LT4:6:1332:30173:18431,LH00995:41:23WJ53LT4:6:1338:13750:1476,LH00995:41:23WJ53LT4:6:1355:21023:5302,LH00995:41:23WJ53LT4:6:1389:35140:1392,LH00995:41:23WJ53LT4:6:1389:35140:1392,LH00995:41:23WJ53LT4:6:1391:2950:28674,LH00995:41:23WJ53LT4:6:1391:2950:28674,LH00995:41:23WJ53LT4:6:2127:15926:25171,LH00995:41:23WJ53LT4:6:2128:49087:13163,LH00995:41:23WJ53LT4:6:2173:2594:24218,LH00995:41:23WJ53LT4:6:2473:13556:2990,LH00995:41:23WJ53LT4:6:2473:13556:2990,LH00995:41:23WJ53LT4:7:1165:6712:19020,LH00995:41:23WJ53LT4:7:1165:6712:19020,LH00995:41:23WJ53LT4:7:1233:15335:16806,LH00995:41:23WJ53LT4:7:1240:13936:19426,LH00995:41:23WJ53LT4:7:1240:13936:19426,LH00995:41:23WJ53LT4:7:1273:27430:9281,LH00995:41:23WJ53LT4:7:1274:9268:17114,LH00995:41:23WJ53LT4:7:1302:46458:7880,LH00995:41:23WJ53LT4:7:1302:46458:7880,LH00995:41:23WJ53LT4:7:1370:1113:25886,LH00995:41:23WJ53LT4:7:1370:1113:25886,LH00995:41:23WJ53LT4:7:1384:20626:20645,LH00995:41:23WJ53LT4:7:1417:26289:11117,LH00995:41:23WJ53LT4:7:1417:26297:11131,LH00995:41:23WJ53LT4:7:1476:41223:18347,LH00995:41:23WJ53LT4:7:2189:23401:22088,LH00995:41:23WJ53LT4:7:2189:23401:22088,LH00995:41:23WJ53LT4:7:2189:23417:22088,LH00995:41:23WJ53LT4:7:2189:23417:22088,LH00995:41:23WJ53LT4:7:2189:23425:22074,LH00995:41:23WJ53LT4:7:2189:23425:22074,LH00995:41:23WJ53LT4:7:2217:21427:22985,LH00995:41:23WJ53LT4:7:2241:26289:28912,LH00995:41:23WJ53LT4:7:2241:26289:28912,LH00995:41:23WJ53LT4:7:2331:23393:19833,LH00995:41:23WJ53LT4:7:2331:23401:19819,LH00995:41:23WJ53LT4:7:2392:15352:2289,LH00995:41:23WJ53LT4:7:2481:51376:9674,LH00995:41:23WJ53LT4:8:1149:23676:25536,LH00995:41:23WJ53LT4:8:1255:2634:9772,LH00995:41:23WJ53LT4:8:1272:26937:21010,LH00995:41:23WJ53LT4:8:1272:26937:21010,LH00995:41:23WJ53LT4:8:1321:13442:15937,LH00995:41:23WJ53LT4:8:1364:38877:28716,LH00995:41:23WJ53LT4:8:1364:38877:28716,LH00995:41:23WJ53LT4:8:1377:32907:14536,LH00995:41:23WJ53LT4:8:1380:43311:12966,LH00995:41:23WJ53LT4:8:1432:18806:9085,LH00995:41:23WJ53LT4:8:2103:33538:7698,LH00995:41:23WJ53LT4:8:2127:43392:23139,LH00995:41:23WJ53LT4:8:2165:39694:1771,LH00995:41:23WJ53LT4:8:2193:23353:14186,LH00995:41:23WJ53LT4:8:2419:5959:29431,LH00995:41:23WJ53LT4:1:1252:52153:9786,LH00995:41:23WJ53LT4:1:1126:26459:23378,LH00995:41:23WJ53LT4:1:1192:36264:11243,LH00995:41:23WJ53LT4:1:1192:36264:11243,LH00995:41:23WJ53LT4:1:1215:45997:6521,LH00995:41:23WJ53LT4:1:1215:45997:6521,LH00995:41:23WJ53LT4:1:1219:30270:28492,LH00995:41:23WJ53LT4:1:1219:30270:28492,LH00995:41:23WJ53LT4:1:1323:3904:28506,LH00995:41:23WJ53LT4:1:1323:3904:28506,LH00995:41:23WJ53LT4:1:1469:7415:6367,LH00995:41:23WJ53LT4:1:1469:7415:6367,LH00995:41:23WJ53LT4:1:1471:48666:6913,LH00995:41:23WJ53LT4:1:2126:17714:7165,LH00995:41:23WJ53LT4:1:2152:8653:26530,LH00995:41:23WJ53LT4:1:2243:42914:14718,LH00995:41:23WJ53LT4:1:2243:42914:14718,LH00995:41:23WJ53LT4:1:2274:29032:10542,LH00995:41:23WJ53LT4:1:2274:29032:10542,LH00995:41:23WJ53LT4:1:2340:44548:2555,LH00995:41:23WJ53LT4:1:2340:44548:2555,LH00995:41:23WJ53LT4:1:2427:24493:26418,LH00995:41:23WJ53LT4:1:2461:40568:24022,LH00995:41:23WJ53LT4:1:2461:40568:24022,LH00995:41:23WJ53LT4:2:1116:34452:26628,LH00995:41:23WJ53LT4:2:1116:34452:26628,LH00995:41:23WJ53LT4:2:1148:20545:9183,LH00995:41:23WJ53LT4:2:1148:20545:9183,LH00995:41:23WJ53LT4:2:1197:33934:13961,LH00995:41:23WJ53LT4:2:1197:33934:13961,LH00995:41:23WJ53LT4:2:1241:2917:20687,LH00995:41:23WJ53LT4:2:1289:23992:8511,LH00995:41:23WJ53LT4:2:1361:4252:15573,LH00995:41:23WJ53LT4:2:1361:4252:15573,LH00995:41:23WJ53LT4:2:1407:51239:8202,LH00995:41:23WJ53LT4:2:1481:36022:29095,LH00995:41:23WJ53LT4:2:1481:36022:29095,LH00995:41:23WJ53LT4:2:2128:4576:11257,LH00995:41:23WJ53LT4:2:2128:4576:11257,LH00995:41:23WJ53LT4:2:2128:7051:20197,LH00995:41:23WJ53LT4:2:2128:7051:20197,LH00995:41:23WJ53LT4:2:2146:33934:9197,LH00995:41:23WJ53LT4:2:2146:33934:9197,LH00995:41:23WJ53LT4:2:2148:37284:3368,LH00995:41:23WJ53LT4:2:2148:37284:3368,LH00995:41:23WJ53LT4:2:2156:3734:25802,LH00995:41:23WJ53LT4:2:2156:3734:25802,LH00995:41:23WJ53LT4:2:2248:48771:5470,LH00995:41:23WJ53LT4:2:2248:48771:5470,LH00995:41:23WJ53LT4:2:2260:15279:14158,LH00995:41:23WJ53LT4:2:2260:15279:14158,LH00995:41:23WJ53LT4:2:2306:14543:13639,LH00995:41:23WJ53LT4:2:2345:24712:11803,LH00995:41:23WJ53LT4:2:2345:24712:11803,LH00995:41:23WJ53LT4:2:2369:15255:7614,LH00995:41:23WJ53LT4:2:2369:15255:7614,LH00995:41:23WJ53LT4:2:2449:50122:14059,LH00995:41:23WJ53LT4:2:2449:50122:14059,LH00995:41:23WJ53LT4:2:2461:20416:25241,LH00995:41:23WJ53LT4:2:2461:20416:25241,LH00995:41:23WJ53LT4:3:1127:48375:28969,LH00995:41:23WJ53LT4:3:1127:48375:28969,LH00995:41:23WJ53LT4:3:1166:49856:1434,LH00995:41:23WJ53LT4:3:1166:49872:1434,LH00995:41:23WJ53LT4:3:1264:38974:10837,LH00995:41:23WJ53LT4:3:1264:38974:10837,LH00995:41:23WJ53LT4:3:1264:38991:10837,LH00995:41:23WJ53LT4:3:1264:38991:10837,LH00995:41:23WJ53LT4:3:1274:4560:28912,LH00995:41:23WJ53LT4:3:1274:4560:28912,LH00995:41:23WJ53LT4:3:1304:51676:20729,LH00995:41:23WJ53LT4:3:1304:51676:20729,LH00995:41:23WJ53LT4:3:1304:8119:4335,LH00995:41:23WJ53LT4:3:1304:8119:4335,LH00995:41:23WJ53LT4:3:1377:10401:16582,LH00995:41:23WJ53LT4:3:1454:27236:18950,LH00995:41:23WJ53LT4:3:1454:27236:18950,LH00995:41:23WJ53LT4:3:1475:47793:20057,LH00995:41:23WJ53LT4:3:1489:5627:6521,LH00995:41:23WJ53LT4:3:1489:5627:6521,LH00995:41:23WJ53LT4:3:1496:10490:18053,LH00995:41:23WJ53LT4:3:1496:10490:18053,LH00995:41:23WJ53LT4:3:2241:18919:23658,LH00995:41:23WJ53LT4:3:2246:29234:4699,LH00995:41:23WJ53LT4:3:2292:51514:3270,LH00995:41:23WJ53LT4:3:2292:51514:3270,LH00995:41:23WJ53LT4:3:2301:17463:16035,LH00995:41:23WJ53LT4:3:2301:17463:16035,LH00995:41:23WJ53LT4:3:2346:45713:28002,LH00995:41:23WJ53LT4:3:2351:8046:4237,LH00995:41:23WJ53LT4:3:2359:30771:5652,LH00995:41:23WJ53LT4:3:2430:13030:19987,LH00995:41:23WJ53LT4:3:2430:13030:19987,LH00995:41:23WJ53LT4:3:2475:4341:21528,LH00995:41:23WJ53LT4:4:1152:16250:24527,LH00995:41:23WJ53LT4:4:1152:16250:24527,LH00995:41:23WJ53LT4:4:1270:21403:8286,LH00995:41:23WJ53LT4:4:1270:21403:8286,LH00995:41:23WJ53LT4:4:1308:1574:4769,LH00995:41:23WJ53LT4:4:1308:1574:4769,LH00995:41:23WJ53LT4:4:1375:29800:18712,LH00995:41:23WJ53LT4:4:1409:3314:22383,LH00995:41:23WJ53LT4:4:1421:46935:29081,LH00995:41:23WJ53LT4:4:2104:10643:20645,LH00995:41:23WJ53LT4:4:2114:39735:18431,LH00995:41:23WJ53LT4:4:2174:44605:27932,LH00995:41:23WJ53LT4:4:2174:44605:27932,LH00995:41:23WJ53LT4:4:2188:1316:1182,LH00995:41:23WJ53LT4:4:2188:1316:1182,LH00995:41:23WJ53LT4:4:2188:1324:1168,LH00995:41:23WJ53LT4:4:2188:1324:1168,LH00995:41:23WJ53LT4:4:2188:1324:1196,LH00995:41:23WJ53LT4:4:2188:1324:1196,LH00995:41:23WJ53LT4:4:2213:23102:20225,LH00995:41:23WJ53LT4:4:2213:23102:20225,LH00995:41:23WJ53LT4:4:2303:34824:5470,LH00995:41:23WJ53LT4:4:2303:34824:5470,LH00995:41:23WJ53LT4:4:2330:30407:28646,LH00995:41:23WJ53LT4:4:2330:30407:28646,LH00995:41:23WJ53LT4:4:2389:13119:28492,LH00995:41:23WJ53LT4:4:2389:13119:28492,LH00995:41:23WJ53LT4:4:2421:43642:19370,LH00995:41:23WJ53LT4:4:2421:50842:25984,LH00995:41:23WJ53LT4:4:2421:50842:25984,LH00995:41:23WJ53LT4:4:2478:29024:14003,LH00995:41:23WJ53LT4:4:2478:29024:14003,LH00995:41:23WJ53LT4:4:2482:50325:22229,LH00995:41:23WJ53LT4:4:2482:50325:22229,LH00995:41:23WJ53LT4:5:1131:26386:22943,LH00995:41:23WJ53LT4:5:1131:26386:22943,LH00995:41:23WJ53LT4:5:1134:28846:5008,LH00995:41:23WJ53LT4:5:1134:28846:5008,LH00995:41:23WJ53LT4:5:1136:42186:10711,LH00995:41:23WJ53LT4:5:1136:42186:10711,LH00995:41:23WJ53LT4:5:1173:3338:17044,LH00995:41:23WJ53LT4:5:1173:3338:17044,LH00995:41:23WJ53LT4:5:1236:22390:17871,LH00995:41:23WJ53LT4:5:1236:22390:17871,LH00995:41:23WJ53LT4:5:1236:22398:17857,LH00995:41:23WJ53LT4:5:1236:22398:17857,LH00995:41:23WJ53LT4:5:1278:38837:6675,LH00995:41:23WJ53LT4:5:1278:38837:6675,LH00995:41:23WJ53LT4:5:1371:27924:4083,LH00995:41:23WJ53LT4:5:1385:2772:10094,LH00995:41:23WJ53LT4:5:1385:2772:10094,LH00995:41:23WJ53LT4:5:1385:2780:10108,LH00995:41:23WJ53LT4:5:1385:2780:10108,LH00995:41:23WJ53LT4:5:1385:2788:10122,LH00995:41:23WJ53LT4:5:1385:2788:10122,LH00995:41:23WJ53LT4:5:1388:13337:14690,LH00995:41:23WJ53LT4:5:1388:13337:14690,LH00995:41:23WJ53LT4:5:1388:13353:14690,LH00995:41:23WJ53LT4:5:1388:13353:14690,LH00995:41:23WJ53LT4:5:1496:31653:21668,LH00995:41:23WJ53LT4:5:1496:31653:21668,LH00995:41:23WJ53LT4:5:2104:5490:26348,LH00995:41:23WJ53LT4:5:2104:5490:26348,LH00995:41:23WJ53LT4:5:2131:43092:25283,LH00995:41:23WJ53LT4:5:2131:43092:25283,LH00995:41:23WJ53LT4:5:2140:41668:5918,LH00995:41:23WJ53LT4:5:2140:41668:5918,LH00995:41:23WJ53LT4:5:2174:6404:8931,LH00995:41:23WJ53LT4:5:2174:6404:8931,LH00995:41:23WJ53LT4:5:2192:42890:26839,LH00995:41:23WJ53LT4:5:2192:42890:26839,LH00995:41:23WJ53LT4:5:2205:17795:13219,LH00995:41:23WJ53LT4:5:2205:17795:13219,LH00995:41:23WJ53LT4:5:2210:26702:12252,LH00995:41:23WJ53LT4:5:2227:26103:22789,LH00995:41:23WJ53LT4:5:2227:26103:22789,LH00995:41:23WJ53LT4:5:2227:26119:22789,LH00995:41:23WJ53LT4:5:2227:26119:22789,LH00995:41:23WJ53LT4:5:2234:46320:21542,LH00995:41:23WJ53LT4:5:2249:46353:12518,LH00995:41:23WJ53LT4:5:2259:51174:11257,LH00995:41:23WJ53LT4:5:2259:51174:11257,LH00995:41:23WJ53LT4:5:2265:1817:24471,LH00995:41:23WJ53LT4:5:2344:38133:12966,LH00995:41:23WJ53LT4:5:2346:19219:21626,LH00995:41:23WJ53LT4:5:2346:19219:21626,LH00995:41:23WJ53LT4:5:2385:32033:18515,LH00995:41:23WJ53LT4:5:2385:32033:18515,LH00995:41:23WJ53LT4:5:2392:47954:18515,LH00995:41:23WJ53LT4:5:2392:47954:18515,LH00995:41:23WJ53LT4:5:2410:31693:28324,LH00995:41:23WJ53LT4:5:2410:31693:28324,LH00995:41:23WJ53LT4:5:2426:6792:22299,LH00995:41:23WJ53LT4:5:2426:6792:22299,LH00995:41:23WJ53LT4:6:1114:32591:9113,LH00995:41:23WJ53LT4:6:1114:32591:9113,LH00995:41:23WJ53LT4:6:1125:21031:17114,LH00995:41:23WJ53LT4:6:1130:14543:26306,LH00995:41:23WJ53LT4:6:1170:51215:20099,LH00995:41:23WJ53LT4:6:1170:51215:20099,LH00995:41:23WJ53LT4:6:1332:30173:18431,LH00995:41:23WJ53LT4:6:1334:18151:3802,LH00995:41:23WJ53LT4:6:1334:18151:3802,LH00995:41:23WJ53LT4:6:1338:13750:1476,LH00995:41:23WJ53LT4:6:1355:21023:5302,LH00995:41:23WJ53LT4:6:1375:10676:11397,LH00995:41:23WJ53LT4:6:1391:4641:15012,LH00995:41:23WJ53LT4:6:1391:4641:15012,LH00995:41:23WJ53LT4:6:1436:21638:2247,LH00995:41:23WJ53LT4:6:2107:44128:13653,LH00995:41:23WJ53LT4:6:2107:44128:13653,LH00995:41:23WJ53LT4:6:2127:15926:25171,LH00995:41:23WJ53LT4:6:2128:20909:24891,LH00995:41:23WJ53LT4:6:2128:20909:24891,LH00995:41:23WJ53LT4:6:2128:49087:13163,LH00995:41:23WJ53LT4:6:2136:46749:5274,LH00995:41:23WJ53LT4:6:2136:46749:5274,LH00995:41:23WJ53LT4:6:2173:2594:24218,LH00995:41:23WJ53LT4:6:2192:9478:10893,LH00995:41:23WJ53LT4:6:2192:9478:10893,LH00995:41:23WJ53LT4:6:2213:32794:4475,LH00995:41:23WJ53LT4:6:2213:32794:4475,LH00995:41:23WJ53LT4:6:2232:30795:15110,LH00995:41:23WJ53LT4:6:2232:30795:15110,LH00995:41:23WJ53LT4:6:2232:30804:15096,LH00995:41:23WJ53LT4:6:2232:30804:15096,LH00995:41:23WJ53LT4:6:2334:15198:2583,LH00995:41:23WJ53LT4:6:2334:15198:2583,LH00995:41:23WJ53LT4:6:2354:32867:26769,LH00995:41:23WJ53LT4:6:2354:32867:26769,LH00995:41:23WJ53LT4:6:2430:33975:29109,LH00995:41:23WJ53LT4:6:2430:33975:29109,LH00995:41:23WJ53LT4:6:2482:1615:13611,LH00995:41:23WJ53LT4:6:2482:1615:13611,LH00995:41:23WJ53LT4:7:1218:43926:9884,LH00995:41:23WJ53LT4:7:1218:43926:9884,LH00995:41:23WJ53LT4:7:1220:27762:27932,LH00995:41:23WJ53LT4:7:1220:27762:27932,LH00995:41:23WJ53LT4:7:1220:27770:27946,LH00995:41:23WJ53LT4:7:1220:27770:27946,LH00995:41:23WJ53LT4:7:1233:15335:16806,LH00995:41:23WJ53LT4:7:1269:48626:26965,LH00995:41:23WJ53LT4:7:1269:48626:26965,LH00995:41:23WJ53LT4:7:1273:27430:9281,LH00995:41:23WJ53LT4:7:1274:9268:17114,LH00995:41:23WJ53LT4:7:1303:41094:16049,LH00995:41:23WJ53LT4:7:1303:41094:16049,LH00995:41:23WJ53LT4:7:1330:18944:19804,LH00995:41:23WJ53LT4:7:1330:18944:19804,LH00995:41:23WJ53LT4:7:1369:46296:21276,LH00995:41:23WJ53LT4:7:1369:46296:21276,LH00995:41:23WJ53LT4:7:1374:51061:25802,LH00995:41:23WJ53LT4:7:1374:51061:25802,LH00995:41:23WJ53LT4:7:1374:51069:25816,LH00995:41:23WJ53LT4:7:1374:51069:25816,LH00995:41:23WJ53LT4:7:1384:20626:20645,LH00995:41:23WJ53LT4:7:1417:26289:11117,LH00995:41:23WJ53LT4:7:1417:26297:11131,LH00995:41:23WJ53LT4:7:1444:52185:16624,LH00995:41:23WJ53LT4:7:1444:52185:16624,LH00995:41:23WJ53LT4:7:1444:52194:16638,LH00995:41:23WJ53LT4:7:1444:52194:16638,LH00995:41:23WJ53LT4:7:1450:27317:20715,LH00995:41:23WJ53LT4:7:1450:27317:20715,LH00995:41:23WJ53LT4:7:1488:14777:1098,LH00995:41:23WJ53LT4:7:1488:14777:1098,LH00995:41:23WJ53LT4:7:1498:19162:29207,LH00995:41:23WJ53LT4:7:1498:19162:29207,LH00995:41:23WJ53LT4:7:2156:38149:18515,LH00995:41:23WJ53LT4:7:2156:38149:18515,LH00995:41:23WJ53LT4:7:2217:21427:22985,LH00995:41:23WJ53LT4:7:2219:4972:11832,LH00995:41:23WJ53LT4:7:2219:4972:11832,LH00995:41:23WJ53LT4:7:2219:7229:1196,LH00995:41:23WJ53LT4:7:2219:7229:1196,LH00995:41:23WJ53LT4:7:2221:50689:20365,LH00995:41:23WJ53LT4:7:2221:50689:20365,LH00995:41:23WJ53LT4:7:2311:49055:28969,LH00995:41:23WJ53LT4:7:2311:49055:28969,LH00995:41:23WJ53LT4:7:2321:9349:11537,LH00995:41:23WJ53LT4:7:2321:9349:11537,LH00995:41:23WJ53LT4:7:2339:42825:23195,LH00995:41:23WJ53LT4:7:2372:5166:8048,LH00995:41:23WJ53LT4:7:2372:5166:8048,LH00995:41:23WJ53LT4:7:2392:15352:2289,LH00995:41:23WJ53LT4:7:2481:51376:9674,LH00995:41:23WJ53LT4:8:1149:23676:25536,LH00995:41:23WJ53LT4:8:1171:12868:6030,LH00995:41:23WJ53LT4:8:1171:12868:6030,LH00995:41:23WJ53LT4:8:1171:12876:6044,LH00995:41:23WJ53LT4:8:1171:12876:6044,LH00995:41:23WJ53LT4:8:1186:33789:18782,LH00995:41:23WJ53LT4:8:1186:33789:18782,LH00995:41:23WJ53LT4:8:1206:39128:7600,LH00995:41:23WJ53LT4:8:1206:39128:7600,LH00995:41:23WJ53LT4:8:1255:2634:9772,LH00995:41:23WJ53LT4:8:1321:13442:15937,LH00995:41:23WJ53LT4:8:1377:32907:14536,LH00995:41:23WJ53LT4:8:1380:43311:12966,LH00995:41:23WJ53LT4:8:1403:51983:27988,LH00995:41:23WJ53LT4:8:1403:51983:27988,LH00995:41:23WJ53LT4:8:1418:51344:19258,LH00995:41:23WJ53LT4:8:1418:51344:19258,LH00995:41:23WJ53LT4:8:1432:18806:9085,LH00995:41:23WJ53LT4:8:1480:5555:13205,LH00995:41:23WJ53LT4:8:1480:5555:13205,LH00995:41:23WJ53LT4:8:2103:33538:7698

IER5L

-/-

chr9:129177014

chr9:129177025

CDS

duplication/ITD

126

516

579

medium

in-frame

Immediate_early_response_protein_(IER)(85%)|Immediate_early_response_protein_(IER)(15%)

ENSG00000188483.8

ENST00000372491.4

upstream

downstream

duplicates(130)

ACCCTGGCCAGGAGGAGGAGGAAGACGACGAGGAGGATGCGGGCGGGCTGGGGGCCGAGCCCCCCGGGGGCGCCCCGTTCGCCCCCTGCAAGCGCGCCCGCTTCGAGGACTTCTGCCCGGACTCGT|GCCCGGACTCGTCCCCGGACGCGTCCAACATCTCAAACTTGATCTCCATCTTTGGCTCCGGCTTCTCGGGGCTGGTGAGCCGACAGCCGGACTCCTCGGAGCAGCCGCCGCCGCTCAACGG

PGQEEEEDDEEDAGGLGAEPPGGAPFAPCKRARFEDFCPDS|cPDSSPDASNISNLISIFGSGFSGLVSRQPDSSEQPPPLN

LH00995:41:23WJ53LT4:1:1216:24040:6297,LH00995:41:23WJ53LT4:1:1216:24040:6297,LH00995:41:23WJ53LT4:1:1221:49669:22663,LH00995:41:23WJ53LT4:1:1221:49669:22663,LH00995:41:23WJ53LT4:1:1248:13370:26881,LH00995:41:23WJ53LT4:1:1304:45155:17422,LH00995:41:23WJ53LT4:1:1381:50090:18515,LH00995:41:23WJ53LT4:1:1455:39177:9449,LH00995:41:23WJ53LT4:1:1455:39177:9449,LH00995:41:23WJ53LT4:1:2238:15473:25536,LH00995:41:23WJ53LT4:1:2238:15473:25536,LH00995:41:23WJ53LT4:1:2268:1210:7474,LH00995:41:23WJ53LT4:1:2268:1210:7474,LH00995:41:23WJ53LT4:1:2454:10829:1266,LH00995:41:23WJ53LT4:1:2454:10829:1266,LH00995:41:23WJ53LT4:1:2467:10077:6885,LH00995:41:23WJ53LT4:1:2467:10077:6885,LH00995:41:23WJ53LT4:1:2488:9381:27876,LH00995:41:23WJ53LT4:2:1242:46061:2513,LH00995:41:23WJ53LT4:2:1350:17115:29025,LH00995:41:23WJ53LT4:2:1368:43286:4125,LH00995:41:23WJ53LT4:2:1368:43286:4125,LH00995:41:23WJ53LT4:2:1368:43303:4125,LH00995:41:23WJ53LT4:2:1368:43303:4125,LH00995:41:23WJ53LT4:2:1429:35811:17240,LH00995:41:23WJ53LT4:2:2134:26710:5400,LH00995:41:23WJ53LT4:2:2348:15360:29599,LH00995:41:23WJ53LT4:2:2358:38602:20281,LH00995:41:23WJ53LT4:2:2367:36305:24569,LH00995:41:23WJ53LT4:2:2387:36054:16708,LH00995:41:23WJ53LT4:2:2387:36054:16708,LH00995:41:23WJ53LT4:2:2387:42186:6367,LH00995:41:23WJ53LT4:2:2414:38028:29291,LH00995:41:23WJ53LT4:2:2457:28838:27693,LH00995:41:23WJ53LT4:2:2476:30917:4615,LH00995:41:23WJ53LT4:3:1104:51441:29179,LH00995:41:23WJ53LT4:3:1104:51441:29179,LH00995:41:23WJ53LT4:3:1251:48877:24765,LH00995:41:23WJ53LT4:3:1251:48877:24765,LH00995:41:23WJ53LT4:3:1351:19097:4657,LH00995:41:23WJ53LT4:3:1414:10457:21920,LH00995:41:23WJ53LT4:3:1414:10465:21934,LH00995:41:23WJ53LT4:3:1423:11857:2738,LH00995:41:23WJ53LT4:3:2105:7432:16315,LH00995:41:23WJ53LT4:3:2112:13224:14914,LH00995:41:23WJ53LT4:3:2134:18741:23658,LH00995:41:23WJ53LT4:3:2218:51708:21094,LH00995:41:23WJ53LT4:3:2221:37187:19146,LH00995:41:23WJ53LT4:3:2246:30383:12658,LH00995:41:23WJ53LT4:3:2246:30383:12658,LH00995:41:23WJ53LT4:3:2260:9333:14508,LH00995:41:23WJ53LT4:3:2276:36831:13933,LH00995:41:23WJ53LT4:3:2406:4034:29067,LH00995:41:23WJ53LT4:3:2406:4034:29067,LH00995:41:23WJ53LT4:3:2477:48731:7081,LH00995:41:23WJ53LT4:4:1116:48747:9267,LH00995:41:23WJ53LT4:4:1206:1574:21248,LH00995:41:23WJ53LT4:4:1217:9729:7516,LH00995:41:23WJ53LT4:4:1218:35941:2387,LH00995:41:23WJ53LT4:4:1218:35941:2387,LH00995:41:23WJ53LT4:4:1221:11193:17787,LH00995:41:23WJ53LT4:4:1246:23021:10893,LH00995:41:23WJ53LT4:4:1329:5627:8651,LH00995:41:23WJ53LT4:4:1329:5627:8651,LH00995:41:23WJ53LT4:4:1364:29161:20799,LH00995:41:23WJ53LT4:4:1380:10846:26572,LH00995:41:23WJ53LT4:4:1396:48035:25045,LH00995:41:23WJ53LT4:4:2113:43723:12168,LH00995:41:23WJ53LT4:4:2168:50519:5610,LH00995:41:23WJ53LT4:4:2182:22390:23532,LH00995:41:23WJ53LT4:4:2281:16549:2653,LH00995:41:23WJ53LT4:4:2303:39136:19973,LH00995:41:23WJ53LT4:4:2303:39136:19973,LH00995:41:23WJ53LT4:4:2303:39152:19973,LH00995:41:23WJ53LT4:4:2303:39152:19973,LH00995:41:23WJ53LT4:4:2325:31548:17675,LH00995:41:23WJ53LT4:4:2325:31548:17675,LH00995:41:23WJ53LT4:4:2356:37809:18039,LH00995:41:23WJ53LT4:4:2356:37809:18039,LH00995:41:23WJ53LT4:4:2357:6234:29151,LH00995:41:23WJ53LT4:4:2402:35164:17044,LH00995:41:23WJ53LT4:5:1249:20254:18627,LH00995:41:23WJ53LT4:5:1320:7982:8160,LH00995:41:23WJ53LT4:5:1337:11177:2037,LH00995:41:23WJ53LT4:5:1342:22697:12826,LH00995:41:23WJ53LT4:5:1342:22697:12826,LH00995:41:23WJ53LT4:5:1342:22714:12826,LH00995:41:23WJ53LT4:5:1342:22714:12826,LH00995:41:23WJ53LT4:5:2192:5830:9001,LH00995:41:23WJ53LT4:5:2342:39436:16540,LH00995:41:23WJ53LT4:5:2342:39436:16540,LH00995:41:23WJ53LT4:6:1208:19963:1140,LH00995:41:23WJ53LT4:6:1208:19963:1140,LH00995:41:23WJ53LT4:6:1208:19979:1140,LH00995:41:23WJ53LT4:6:1208:19979:1140,LH00995:41:23WJ53LT4:6:1332:13442:27511,LH00995:41:23WJ53LT4:6:1364:37607:9197,LH00995:41:23WJ53LT4:6:2125:9446:18347,LH00995:41:23WJ53LT4:6:2129:27826:4055,LH00995:41:23WJ53LT4:6:2151:13386:20547,LH00995:41:23WJ53LT4:6:2246:47623:20939,LH00995:41:23WJ53LT4:6:2246:47623:20939,LH00995:41:23WJ53LT4:6:2285:25933:22495,LH00995:41:23WJ53LT4:6:2330:30844:18950,LH00995:41:23WJ53LT4:6:2330:30844:18950,LH00995:41:23WJ53LT4:6:2340:7068:26334,LH00995:41:23WJ53LT4:6:2343:49904:12224,LH00995:41:23WJ53LT4:6:2344:40220:22383,LH00995:41:23WJ53LT4:6:2365:42243:13275,LH00995:41:23WJ53LT4:6:2462:28894:7025,LH00995:41:23WJ53LT4:7:1268:30197:23322,LH00995:41:23WJ53LT4:7:1327:22883:18754,LH00995:41:23WJ53LT4:7:1327:22883:18754,LH00995:41:23WJ53LT4:7:1352:9543:25241,LH00995:41:23WJ53LT4:7:2124:38457:1729,LH00995:41:23WJ53LT4:7:2124:38457:1729,LH00995:41:23WJ53LT4:7:2134:45479:18487,LH00995:41:23WJ53LT4:7:2140:40819:24709,LH00995:41:23WJ53LT4:7:2220:1332:10823,LH00995:41:23WJ53LT4:8:1106:47089:20211,LH00995:41:23WJ53LT4:8:1106:47089:20211,LH00995:41:23WJ53LT4:8:1225:10101:5806,LH00995:41:23WJ53LT4:8:1245:28902:13121,LH00995:41:23WJ53LT4:8:1367:4721:14312,LH00995:41:23WJ53LT4:8:1407:26322:12210,LH00995:41:23WJ53LT4:8:2278:31936:17226,LH00995:41:23WJ53LT4:8:2281:1235:15279,LH00995:41:23WJ53LT4:8:2392:9939:20407,LH00995:41:23WJ53LT4:8:2418:4147:11663,LH00995:41:23WJ53LT4:8:2418:4147:11663,LH00995:41:23WJ53LT4:1:1133:22083:29445,LH00995:41:23WJ53LT4:1:1133:22083:29445,LH00995:41:23WJ53LT4:1:1248:13370:26881,LH00995:41:23WJ53LT4:1:1304:45155:17422,LH00995:41:23WJ53LT4:1:1381:50090:18515,LH00995:41:23WJ53LT4:1:2131:37429:18754,LH00995:41:23WJ53LT4:1:2131:37429:18754,LH00995:41:23WJ53LT4:1:2157:10190:15573,LH00995:41:23WJ53LT4:1:2157:10190:15573,LH00995:41:23WJ53LT4:1:2194:38101:14144,LH00995:41:23WJ53LT4:1:2194:38101:14144,LH00995:41:23WJ53LT4:1:2255:15230:2611,LH00995:41:23WJ53LT4:1:2255:15230:2611,LH00995:41:23WJ53LT4:1:2268:16784:8721,LH00995:41:23WJ53LT4:1:2268:16784:8721,LH00995:41:23WJ53LT4:1:2320:4657:23252,LH00995:41:23WJ53LT4:1:2320:4657:23252,LH00995:41:23WJ53LT4:1:2381:24679:29039,LH00995:41:23WJ53LT4:1:2381:24679:29039,LH00995:41:23WJ53LT4:1:2485:10239:5512,LH00995:41:23WJ53LT4:1:2485:10239:5512,LH00995:41:23WJ53LT4:1:2488:9381:27876,LH00995:41:23WJ53LT4:2:1242:46061:2513,LH00995:41:23WJ53LT4:2:1350:17115:29025,LH00995:41:23WJ53LT4:2:1375:49103:8623,LH00995:41:23WJ53LT4:2:1375:49103:8623,LH00995:41:23WJ53LT4:2:1375:49111:8609,LH00995:41:23WJ53LT4:2:1375:49111:8609,LH00995:41:23WJ53LT4:2:1429:35811:17240,LH00995:41:23WJ53LT4:2:2134:26710:5400,LH00995:41:23WJ53LT4:2:2158:37340:26614,LH00995:41:23WJ53LT4:2:2158:37340:26614,LH00995:41:23WJ53LT4:2:2343:45018:7908,LH00995:41:23WJ53LT4:2:2343:45018:7908,LH00995:41:23WJ53LT4:2:2348:15360:29599,LH00995:41:23WJ53LT4:2:2358:38602:20281,LH00995:41:23WJ53LT4:2:2367:36305:24569,LH00995:41:23WJ53LT4:2:2387:42186:6367,LH00995:41:23WJ53LT4:2:2414:38028:29291,LH00995:41:23WJ53LT4:2:2429:51385:24597,LH00995:41:23WJ53LT4:2:2429:51385:24597,LH00995:41:23WJ53LT4:2:2457:28838:27693,LH00995:41:23WJ53LT4:2:2465:42073:17577,LH00995:41:23WJ53LT4:2:2465:42073:17577,LH00995:41:23WJ53LT4:2:2472:5967:17030,LH00995:41:23WJ53LT4:2:2472:5967:17030,LH00995:41:23WJ53LT4:2:2472:5983:17030,LH00995:41:23WJ53LT4:2:2472:5983:17030,LH00995:41:23WJ53LT4:2:2476:30917:4615,LH00995:41:23WJ53LT4:3:1108:10983:19076,LH00995:41:23WJ53LT4:3:1108:10983:19076,LH00995:41:23WJ53LT4:3:1129:27600:14844,LH00995:41:23WJ53LT4:3:1129:27600:14844,LH00995:41:23WJ53LT4:3:1143:24259:25900,LH00995:41:23WJ53LT4:3:1143:24259:25900,LH00995:41:23WJ53LT4:3:1212:19842:25479,LH00995:41:23WJ53LT4:3:1212:19842:25479,LH00995:41:23WJ53LT4:3:1239:5894:23742,LH00995:41:23WJ53LT4:3:1239:5894:23742,LH00995:41:23WJ53LT4:3:1239:5903:23728,LH00995:41:23WJ53LT4:3:1239:5903:23728,LH00995:41:23WJ53LT4:3:1244:18491:29641,LH00995:41:23WJ53LT4:3:1244:18491:29641,LH00995:41:23WJ53LT4:3:1261:13540:19160,LH00995:41:23WJ53LT4:3:1261:13540:19160,LH00995:41:23WJ53LT4:3:1289:48399:9449,LH00995:41:23WJ53LT4:3:1289:48399:9449,LH00995:41:23WJ53LT4:3:1332:27212:16414,LH00995:41:23WJ53LT4:3:1332:27212:16414,LH00995:41:23WJ53LT4:3:1334:33773:13205,LH00995:41:23WJ53LT4:3:1334:33773:13205,LH00995:41:23WJ53LT4:3:1351:19097:4657,LH00995:41:23WJ53LT4:3:1414:10457:21920,LH00995:41:23WJ53LT4:3:1414:10465:21934,LH00995:41:23WJ53LT4:3:1423:11857:2738,LH00995:41:23WJ53LT4:3:1431:29161:22369,LH00995:41:23WJ53LT4:3:1431:29161:22369,LH00995:41:23WJ53LT4:3:2105:7432:16315,LH00995:41:23WJ53LT4:3:2112:13224:14914,LH00995:41:23WJ53LT4:3:2134:18741:23658,LH00995:41:23WJ53LT4:3:2218:51708:21094,LH00995:41:23WJ53LT4:3:2221:37187:19146,LH00995:41:23WJ53LT4:3:2260:9333:14508,LH00995:41:23WJ53LT4:3:2276:36831:13933,LH00995:41:23WJ53LT4:3:2283:26346:4069,LH00995:41:23WJ53LT4:3:2283:26346:4069,LH00995:41:23WJ53LT4:3:2294:15983:1532,LH00995:41:23WJ53LT4:3:2294:15983:1532,LH00995:41:23WJ53LT4:3:2346:14761:2499,LH00995:41:23WJ53LT4:3:2346:14761:2499,LH00995:41:23WJ53LT4:3:2470:10247:23630,LH00995:41:23WJ53LT4:3:2470:10247:23630,LH00995:41:23WJ53LT4:3:2477:48731:7081,LH00995:41:23WJ53LT4:4:1114:22091:28534,LH00995:41:23WJ53LT4:4:1114:22091:28534,LH00995:41:23WJ53LT4:4:1116:48747:9267,LH00995:41:23WJ53LT4:4:1140:16047:18908,LH00995:41:23WJ53LT4:4:1140:16047:18908,LH00995:41:23WJ53LT4:4:1155:26920:16021,LH00995:41:23WJ53LT4:4:1155:26920:16021,LH00995:41:23WJ53LT4:4:1206:1574:21248,LH00995:41:23WJ53LT4:4:1217:9729:7516,LH00995:41:23WJ53LT4:4:1221:11193:17787,LH00995:41:23WJ53LT4:4:1232:9818:24316,LH00995:41:23WJ53LT4:4:1232:9818:24316,LH00995:41:23WJ53LT4:4:1246:23021:10893,LH00995:41:23WJ53LT4:4:1345:21371:13135,LH00995:41:23WJ53LT4:4:1345:21371:13135,LH00995:41:23WJ53LT4:4:1364:29161:20799,LH00995:41:23WJ53LT4:4:1380:10846:26572,LH00995:41:23WJ53LT4:4:1396:48035:25045,LH00995:41:23WJ53LT4:4:1409:2642:7572,LH00995:41:23WJ53LT4:4:1409:2642:7572,LH00995:41:23WJ53LT4:4:1486:18628:20323,LH00995:41:23WJ53LT4:4:1486:18628:20323,LH00995:41:23WJ53LT4:4:2113:43723:12168,LH00995:41:23WJ53LT4:4:2168:50519:5610,LH00995:41:23WJ53LT4:4:2182:22390:23532,LH00995:41:23WJ53LT4:4:2281:16549:2653,LH00995:41:23WJ53LT4:4:2357:6234:29151,LH00995:41:23WJ53LT4:4:2402:35164:17044,LH00995:41:23WJ53LT4:4:2456:41766:5218,LH00995:41:23WJ53LT4:4:2456:41766:5218,LH00995:41:23WJ53LT4:5:1249:20254:18627,LH00995:41:23WJ53LT4:5:1320:7982:8160,LH00995:41:23WJ53LT4:5:1337:11177:2037,LH00995:41:23WJ53LT4:5:1414:28943:21374,LH00995:41:23WJ53LT4:5:1414:28943:21374,LH00995:41:23WJ53LT4:5:1459:11452:6605,LH00995:41:23WJ53LT4:5:1459:11452:6605,LH00995:41:23WJ53LT4:5:1495:51757:9576,LH00995:41:23WJ53LT4:5:1495:51757:9576,LH00995:41:23WJ53LT4:5:2151:3476:8763,LH00995:41:23WJ53LT4:5:2151:3476:8763,LH00995:41:23WJ53LT4:5:2192:5830:9001,LH00995:41:23WJ53LT4:5:2239:27818:10178,LH00995:41:23WJ53LT4:5:2239:27818:10178,LH00995:41:23WJ53LT4:5:2239:44969:3368,LH00995:41:23WJ53LT4:5:2239:44969:3368,LH00995:41:23WJ53LT4:5:2335:2578:7852,LH00995:41:23WJ53LT4:5:2335:2578:7852,LH00995:41:23WJ53LT4:5:2385:46830:13989,LH00995:41:23WJ53LT4:5:2385:46830:13989,LH00995:41:23WJ53LT4:6:1116:38627:8272,LH00995:41:23WJ53LT4:6:1116:38627:8272,LH00995:41:23WJ53LT4:6:1131:41062:12182,LH00995:41:23WJ53LT4:6:1131:41062:12182,LH00995:41:23WJ53LT4:6:1157:47194:10360,LH00995:41:23WJ53LT4:6:1157:47194:10360,LH00995:41:23WJ53LT4:6:1332:13442:27511,LH00995:41:23WJ53LT4:6:1364:37607:9197,LH00995:41:23WJ53LT4:6:2125:9446:18347,LH00995:41:23WJ53LT4:6:2129:27826:4055,LH00995:41:23WJ53LT4:6:2151:13386:20547,LH00995:41:23WJ53LT4:6:2171:4341:27469,LH00995:41:23WJ53LT4:6:2171:4341:27469,LH00995:41:23WJ53LT4:6:2236:28902:25255,LH00995:41:23WJ53LT4:6:2236:28902:25255,LH00995:41:23WJ53LT4:6:2267:10401:14228,LH00995:41:23WJ53LT4:6:2267:10401:14228,LH00995:41:23WJ53LT4:6:2285:25933:22495,LH00995:41:23WJ53LT4:6:2322:6582:15068,LH00995:41:23WJ53LT4:6:2322:6582:15068,LH00995:41:23WJ53LT4:6:2340:7068:26334,LH00995:41:23WJ53LT4:6:2343:49904:12224,LH00995:41:23WJ53LT4:6:2344:40220:22383,LH00995:41:23WJ53LT4:6:2365:42243:13275,LH00995:41:23WJ53LT4:6:2462:28894:7025,LH00995:41:23WJ53LT4:7:1109:7868:4181,LH00995:41:23WJ53LT4:7:1109:7868:4181,LH00995:41:23WJ53LT4:7:1162:9745:3116,LH00995:41:23WJ53LT4:7:1162:9745:3116,LH00995:41:23WJ53LT4:7:1201:36903:20897,LH00995:41:23WJ53LT4:7:1201:36903:20897,LH00995:41:23WJ53LT4:7:1268:30197:23322,LH00995:41:23WJ53LT4:7:1276:14446:12154,LH00995:41:23WJ53LT4:7:1276:14446:12154,LH00995:41:23WJ53LT4:7:1315:9834:23616,LH00995:41:23WJ53LT4:7:1315:9834:23616,LH00995:41:23WJ53LT4:7:1325:23587:3718,LH00995:41:23WJ53LT4:7:1325:23587:3718,LH00995:41:23WJ53LT4:7:1352:9543:25241,LH00995:41:23WJ53LT4:7:1353:2723:26488,LH00995:41:23WJ53LT4:7:1353:2723:26488,LH00995:41:23WJ53LT4:7:1380:47776:6325,LH00995:41:23WJ53LT4:7:1380:47776:6325,LH00995:41:23WJ53LT4:7:1439:32308:4783,LH00995:41:23WJ53LT4:7:1439:32308:4783,LH00995:41:23WJ53LT4:7:2122:20756:27259,LH00995:41:23WJ53LT4:7:2122:20756:27259,LH00995:41:23WJ53LT4:7:2134:45479:18487,LH00995:41:23WJ53LT4:7:2140:40819:24709,LH00995:41:23WJ53LT4:7:2220:1332:10823,LH00995:41:23WJ53LT4:7:2411:4446:9996,LH00995:41:23WJ53LT4:7:2411:4446:9996,LH00995:41:23WJ53LT4:8:1159:18183:20001,LH00995:41:23WJ53LT4:8:1159:18183:20001,LH00995:41:23WJ53LT4:8:1180:4009:23167,LH00995:41:23WJ53LT4:8:1180:4009:23167,LH00995:41:23WJ53LT4:8:1225:10101:5806,LH00995:41:23WJ53LT4:8:1244:1550:19356,LH00995:41:23WJ53LT4:8:1244:1550:19356,LH00995:41:23WJ53LT4:8:1245:28902:13121,LH00995:41:23WJ53LT4:8:1367:4721:14312,LH00995:41:23WJ53LT4:8:1397:36839:23532,LH00995:41:23WJ53LT4:8:1397:36839:23532,LH00995:41:23WJ53LT4:8:1407:26322:12210,LH00995:41:23WJ53LT4:8:2278:31936:17226,LH00995:41:23WJ53LT4:8:2281:1235:15279,LH00995:41:23WJ53LT4:8:2349:15230:28086,LH00995:41:23WJ53LT4:8:2349:15230:28086,LH00995:41:23WJ53LT4:8:2392:9939:20407

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

664

631

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(47),low_entropy(1),mismappers(37)

CAAGATCTCGCTCTCCTGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCC

RSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPV

LH00995:41:23WJ53LT4:1:1231:12447:4713,LH00995:41:23WJ53LT4:1:1245:49661:14886,LH00995:41:23WJ53LT4:1:1265:18240:8861,LH00995:41:23WJ53LT4:1:1304:4196:21108,LH00995:41:23WJ53LT4:1:1304:4204:21094,LH00995:41:23WJ53LT4:1:1319:14777:17352,LH00995:41:23WJ53LT4:1:1342:5636:13849,LH00995:41:23WJ53LT4:1:1425:36272:16470,LH00995:41:23WJ53LT4:1:1439:14268:18571,LH00995:41:23WJ53LT4:1:1439:18936:6479,LH00995:41:23WJ53LT4:1:1446:41563:17198,LH00995:41:23WJ53LT4:1:1491:30763:12812,LH00995:41:23WJ53LT4:1:2134:23215:2569,LH00995:41:23WJ53LT4:1:2157:40803:7362,LH00995:41:23WJ53LT4:1:2176:31734:16400,LH00995:41:23WJ53LT4:1:2219:4754:13947,LH00995:41:23WJ53LT4:1:2296:10109:14676,LH00995:41:23WJ53LT4:1:2350:11121:20379,LH00995:41:23WJ53LT4:2:1111:50972:27301,LH00995:41:23WJ53LT4:2:1243:19672:8427,LH00995:41:23WJ53LT4:2:1267:47687:20687,LH00995:41:23WJ53LT4:2:1279:44087:5568,LH00995:41:23WJ53LT4:2:1309:2027:2387,LH00995:41:23WJ53LT4:2:1330:36272:25157,LH00995:41:23WJ53LT4:2:1340:17803:2583,LH00995:41:23WJ53LT4:2:1494:27098:22579,LH00995:41:23WJ53LT4:2:2135:17115:13331,LH00995:41:23WJ53LT4:2:2152:44775:16287,LH00995:41:23WJ53LT4:2:2162:49742:26965,LH00995:41:23WJ53LT4:2:2212:51708:3270,LH00995:41:23WJ53LT4:2:2333:8912:14368,LH00995:41:23WJ53LT4:2:2413:16298:19875,LH00995:41:23WJ53LT4:2:2447:24849:8679,LH00995:41:23WJ53LT4:2:2457:36604:8861,LH00995:41:23WJ53LT4:3:1107:12116:23644,LH00995:41:23WJ53LT4:3:1119:6372:5596,LH00995:41:23WJ53LT4:3:1172:18159:15138,LH00995:41:23WJ53LT4:3:1172:18167:15152,LH00995:41:23WJ53LT4:3:1207:11468:23195,LH00995:41:23WJ53LT4:3:1227:34315:14676,LH00995:41:23WJ53LT4:3:1321:40220:24849,LH00995:41:23WJ53LT4:3:1367:3937:5386,LH00995:41:23WJ53LT4:3:1402:20707:4699,LH00995:41:23WJ53LT4:3:1437:15036:12560,LH00995:41:23WJ53LT4:3:1450:13038:2121,LH00995:41:23WJ53LT4:3:1467:25650:8328,LH00995:41:23WJ53LT4:3:1467:25658:8342,LH00995:41:23WJ53LT4:3:1477:27042:28254,LH00995:41:23WJ53LT4:3:1492:4438:26404,LH00995:41:23WJ53LT4:3:1492:4446:26418,LH00995:41:23WJ53LT4:3:1492:4454:26404,LH00995:41:23WJ53LT4:3:2263:38012:20911,LH00995:41:23WJ53LT4:3:2417:37632:24709,LH00995:41:23WJ53LT4:3:2466:14243:16960,LH00995:41:23WJ53LT4:3:2482:17131:17563,LH00995:41:23WJ53LT4:4:1110:9592:15208,LH00995:41:23WJ53LT4:4:1133:27875:15068,LH00995:41:23WJ53LT4:4:1176:35261:14382,LH00995:41:23WJ53LT4:4:1184:27074:17605,LH00995:41:23WJ53LT4:4:1279:7674:1687,LH00995:41:23WJ53LT4:4:1483:44613:23406,LH00995:41:23WJ53LT4:4:1483:44621:23420,LH00995:41:23WJ53LT4:4:1484:43456:15629,LH00995:41:23WJ53LT4:4:2197:10740:15124,LH00995:41:23WJ53LT4:4:2268:46409:17661,LH00995:41:23WJ53LT4:4:2291:13281:11817,LH00995:41:23WJ53LT4:4:2309:34007:28660,LH00995:41:23WJ53LT4:4:2354:48747:10164,LH00995:41:23WJ53LT4:5:1156:51409:14774,LH00995:41:23WJ53LT4:5:1194:31912:4937,LH00995:41:23WJ53LT4:5:1237:24477:7502,LH00995:41:23WJ53LT4:5:1272:40568:29627,LH00995:41:23WJ53LT4:5:1344:35277:13821,LH00995:41:23WJ53LT4:5:1487:19575:16189,LH00995:41:23WJ53LT4:5:2132:8888:4685,LH00995:41:23WJ53LT4:5:2255:10190:25690,LH00995:41:23WJ53LT4:5:2294:31952:20477,LH00995:41:23WJ53LT4:5:2332:24000:4937,LH00995:41:23WJ53LT4:5:2336:36143:27820,LH00995:41:23WJ53LT4:5:2387:16824:21906,LH00995:41:23WJ53LT4:5:2439:12261:10725,LH00995:41:23WJ53LT4:5:2467:3362:12546,LH00995:41:23WJ53LT4:6:1167:11193:22103,LH00995:41:23WJ53LT4:6:1170:9778:10262,LH00995:41:23WJ53LT4:6:1173:51207:19300,LH00995:41:23WJ53LT4:6:1182:22155:15335,LH00995:41:23WJ53LT4:6:1191:19801:11537,LH00995:41:23WJ53LT4:6:1223:43982:17520,LH00995:41:23WJ53LT4:6:1283:38772:18305,LH00995:41:23WJ53LT4:6:1313:32535:13051,LH00995:41:23WJ53LT4:6:1313:32543:13037,LH00995:41:23WJ53LT4:6:1315:3039:14536,LH00995:41:23WJ53LT4:6:1344:45058:27792,LH00995:41:23WJ53LT4:6:1344:45066:27777,LH00995:41:23WJ53LT4:6:1344:45066:27806,LH00995:41:23WJ53LT4:6:1344:45074:27792,LH00995:41:23WJ53LT4:6:1425:4471:15755,LH00995:41:23WJ53LT4:6:2149:21969:29193,LH00995:41:23WJ53LT4:6:2205:3629:13765,LH00995:41:23WJ53LT4:6:2208:4438:21892,LH00995:41:23WJ53LT4:6:2356:28644:9814,LH00995:41:23WJ53LT4:6:2389:9438:16147,LH00995:41:23WJ53LT4:6:2405:37882:18501,LH00995:41:23WJ53LT4:6:2416:27964:1210,LH00995:41:23WJ53LT4:6:2429:33659:27441,LH00995:41:23WJ53LT4:6:2477:28409:4195,LH00995:41:23WJ53LT4:7:1184:42105:19482,LH00995:41:23WJ53LT4:7:1434:46717:2555,LH00995:41:23WJ53LT4:7:1497:39881:17591,LH00995:41:23WJ53LT4:7:2113:47687:11075,LH00995:41:23WJ53LT4:7:2144:42219:7179,LH00995:41:23WJ53LT4:7:2209:11541:1098,LH00995:41:23WJ53LT4:7:2213:21306:17282,LH00995:41:23WJ53LT4:7:2256:38877:22523,LH00995:41:23WJ53LT4:7:2297:19089:8847,LH00995:41:23WJ53LT4:7:2401:30520:8272,LH00995:41:23WJ53LT4:7:2477:42664:4083,LH00995:41:23WJ53LT4:7:2477:42672:4069,LH00995:41:23WJ53LT4:8:1138:14818:11453,LH00995:41:23WJ53LT4:8:1201:34250:16105,LH00995:41:23WJ53LT4:8:1201:34266:16105,LH00995:41:23WJ53LT4:8:1207:15861:1126,LH00995:41:23WJ53LT4:8:1261:28668:20869,LH00995:41:23WJ53LT4:8:1278:1170:11383,LH00995:41:23WJ53LT4:8:1388:34493:20057,LH00995:41:23WJ53LT4:8:1417:19324:20603,LH00995:41:23WJ53LT4:8:1474:2731:28492,LH00995:41:23WJ53LT4:8:2166:4746:18529,LH00995:41:23WJ53LT4:8:2176:16630:11930,LH00995:41:23WJ53LT4:8:2210:2019:21290,LH00995:41:23WJ53LT4:8:2214:21848:13849,LH00995:41:23WJ53LT4:8:2257:3014:22341,LH00995:41:23WJ53LT4:8:2304:48108:14886,LH00995:41:23WJ53LT4:8:2379:30407:4573,LH00995:41:23WJ53LT4:8:2382:2845:18627,LH00995:41:23WJ53LT4:8:2483:27737:18838,LH00995:41:23WJ53LT4:1:1124:45228:15783,LH00995:41:23WJ53LT4:1:1129:5708:26530,LH00995:41:23WJ53LT4:1:1158:30181:11131,LH00995:41:23WJ53LT4:1:1184:18054:1729,LH00995:41:23WJ53LT4:1:1187:16848:29319,LH00995:41:23WJ53LT4:1:1238:21023:27273,LH00995:41:23WJ53LT4:1:1280:23911:28997,LH00995:41:23WJ53LT4:1:2214:32203:5582,LH00995:41:23WJ53LT4:1:2250:41183:17072,LH00995:41:23WJ53LT4:1:2357:24113:14073,LH00995:41:23WJ53LT4:1:2434:6865:20939,LH00995:41:23WJ53LT4:2:1145:8872:14522,LH00995:41:23WJ53LT4:2:1159:14138:29025,LH00995:41:23WJ53LT4:2:1159:14146:29039,LH00995:41:23WJ53LT4:2:1188:36167:26909,LH00995:41:23WJ53LT4:2:1366:34226:25255,LH00995:41:23WJ53LT4:2:1369:29631:8693,LH00995:41:23WJ53LT4:2:1410:40325:23882,LH00995:41:23WJ53LT4:2:1410:40334:23896,LH00995:41:23WJ53LT4:2:1437:1793:14900,LH00995:41:23WJ53LT4:2:1460:1057:13373,LH00995:41:23WJ53LT4:2:2214:19842:7292,LH00995:41:23WJ53LT4:2:2281:34824:4265,LH00995:41:23WJ53LT4:2:2281:34832:4279,LH00995:41:23WJ53LT4:2:2366:33311:6521,LH00995:41:23WJ53LT4:2:2420:34751:11986,LH00995:41:23WJ53LT4:2:2479:33878:11061,LH00995:41:23WJ53LT4:2:2493:10020:26208,LH00995:41:23WJ53LT4:3:1246:45633:3200,LH00995:41:23WJ53LT4:3:1246:45649:3200,LH00995:41:23WJ53LT4:3:1294:51700:23490,LH00995:41:23WJ53LT4:3:1358:3443:2597,LH00995:41:23WJ53LT4:3:1444:11962:20267,LH00995:41:23WJ53LT4:3:2156:40835:15909,LH00995:41:23WJ53LT4:3:2251:25488:23266,LH00995:41:23WJ53LT4:3:2277:1291:21262,LH00995:41:23WJ53LT4:3:2284:23070:9688,LH00995:41:23WJ53LT4:3:2295:26128:26138,LH00995:41:23WJ53LT4:3:2361:45212:28646,LH00995:41:23WJ53LT4:4:1201:12585:7614,LH00995:41:23WJ53LT4:4:1232:12229:7278,LH00995:41:23WJ53LT4:4:1321:46401:29249,LH00995:41:23WJ53LT4:4:1321:46417:29249,LH00995:41:23WJ53LT4:4:1359:14235:20169,LH00995:41:23WJ53LT4:4:1448:3031:9253,LH00995:41:23WJ53LT4:4:1452:39525:13667,LH00995:41:23WJ53LT4:4:1452:39533:13653,LH00995:41:23WJ53LT4:4:1486:37850:16988,LH00995:41:23WJ53LT4:4:2236:3775:4181,LH00995:41:23WJ53LT4:4:2256:36831:17661,LH00995:41:23WJ53LT4:4:2291:9090:16021,LH00995:41:23WJ53LT4:4:2304:8985:28870,LH00995:41:23WJ53LT4:4:2335:24987:15615,LH00995:41:23WJ53LT4:4:2356:26144:8819,LH00995:41:23WJ53LT4:4:2411:32373:5652,LH00995:41:23WJ53LT4:4:2448:30011:9071,LH00995:41:23WJ53LT4:4:2490:48602:4699,LH00995:41:23WJ53LT4:5:1162:50381:16385,LH00995:41:23WJ53LT4:5:1166:1275:28716,LH00995:41:23WJ53LT4:5:1180:23579:3312,LH00995:41:23WJ53LT4:5:1343:3403:8889,LH00995:41:23WJ53LT4:5:1367:49686:26474,LH00995:41:23WJ53LT4:5:2101:34169:23840,LH00995:41:23WJ53LT4:5:2108:10109:13835,LH00995:41:23WJ53LT4:5:2230:36329:13821,LH00995:41:23WJ53LT4:5:2238:22989:5204,LH00995:41:23WJ53LT4:5:2306:35973:22341,LH00995:41:23WJ53LT4:5:2376:6776:11902,LH00995:41:23WJ53LT4:5:2402:38481:10514,LH00995:41:23WJ53LT4:5:2426:28757:5666,LH00995:41:23WJ53LT4:6:1116:47679:22803,LH00995:41:23WJ53LT4:6:1125:7415:24611,LH00995:41:23WJ53LT4:6:1192:10797:19650,LH00995:41:23WJ53LT4:6:1269:23628:3901,LH00995:41:23WJ53LT4:6:1398:30423:21248,LH00995:41:23WJ53LT4:6:2114:9761:19006,LH00995:41:23WJ53LT4:6:2323:15934:25101,LH00995:41:23WJ53LT4:6:2344:20214:28030,LH00995:41:23WJ53LT4:6:2448:25521:1322,LH00995:41:23WJ53LT4:6:2448:30318:2597,LH00995:41:23WJ53LT4:6:2450:39743:6591,LH00995:41:23WJ53LT4:6:2468:5919:16694,LH00995:41:23WJ53LT4:6:2477:41450:12798,LH00995:41:23WJ53LT4:7:1128:20885:22299,LH00995:41:23WJ53LT4:7:1137:35116:28870,LH00995:41:23WJ53LT4:7:1248:45010:8623,LH00995:41:23WJ53LT4:7:1355:25294:8777,LH00995:41:23WJ53LT4:7:1371:33716:13499,LH00995:41:23WJ53LT4:7:1449:1825:25465,LH00995:41:23WJ53LT4:7:1449:1841:25465,LH00995:41:23WJ53LT4:7:1465:7577:7151,LH00995:41:23WJ53LT4:7:1484:9907:6899,LH00995:41:23WJ53LT4:7:2101:26095:3046,LH00995:41:23WJ53LT4:7:2140:2731:28912,LH00995:41:23WJ53LT4:7:2271:12997:14606,LH00995:41:23WJ53LT4:7:2330:42704:12700,LH00995:41:23WJ53LT4:7:2336:27972:9127,LH00995:41:23WJ53LT4:7:2357:6752:11523,LH00995:41:23WJ53LT4:7:2367:37696:6100,LH00995:41:23WJ53LT4:7:2428:28919:17829,LH00995:41:23WJ53LT4:7:2461:23183:9968,LH00995:41:23WJ53LT4:7:2469:37543:28030,LH00995:41:23WJ53LT4:8:1172:46385:20982,LH00995:41:23WJ53LT4:8:1252:26645:8455,LH00995:41:23WJ53LT4:8:1289:43028:17773,LH00995:41:23WJ53LT4:8:1380:15829:12084,LH00995:41:23WJ53LT4:8:1424:50891:27974,LH00995:41:23WJ53LT4:8:1437:28991:25241,LH00995:41:23WJ53LT4:8:2102:29202:9856,LH00995:41:23WJ53LT4:8:2146:17989:8146,LH00995:41:23WJ53LT4:8:2152:22511:16764,LH00995:41:23WJ53LT4:8:2284:8580:12812

ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

273

324

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(69),low_entropy(3)

CTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAGGAC

MEAEEAQrG|g*

LH00995:41:23WJ53LT4:1:1356:30391:19678,LH00995:41:23WJ53LT4:1:1356:30391:19678,LH00995:41:23WJ53LT4:1:2196:13159:3873,LH00995:41:23WJ53LT4:1:2196:13159:3873,LH00995:41:23WJ53LT4:5:2425:15562:20869,LH00995:41:23WJ53LT4:5:2425:15562:20869,LH00995:41:23WJ53LT4:1:1236:49621:5120,LH00995:41:23WJ53LT4:1:1352:17366:8048,LH00995:41:23WJ53LT4:1:1352:17366:8048,LH00995:41:23WJ53LT4:1:2206:14494:17086,LH00995:41:23WJ53LT4:1:2206:14494:17086,LH00995:41:23WJ53LT4:1:2278:19016:6843,LH00995:41:23WJ53LT4:1:2278:19016:6843,LH00995:41:23WJ53LT4:1:2324:25844:18894,LH00995:41:23WJ53LT4:1:2324:25844:18894,LH00995:41:23WJ53LT4:1:2441:16598:5372,LH00995:41:23WJ53LT4:1:2441:16598:5372,LH00995:41:23WJ53LT4:1:2496:3548:13961,LH00995:41:23WJ53LT4:1:2496:3548:13961,LH00995:41:23WJ53LT4:2:1137:6081:26727,LH00995:41:23WJ53LT4:2:1137:6081:26727,LH00995:41:23WJ53LT4:2:1157:25861:8104,LH00995:41:23WJ53LT4:2:1216:41118:28618,LH00995:41:23WJ53LT4:2:1216:41118:28618,LH00995:41:23WJ53LT4:2:1273:13264:8595,LH00995:41:23WJ53LT4:2:1273:13264:8595,LH00995:41:23WJ53LT4:2:2188:25027:13247,LH00995:41:23WJ53LT4:2:2188:25027:13247,LH00995:41:23WJ53LT4:2:2432:33093:10795,LH00995:41:23WJ53LT4:2:2432:33093:10795,LH00995:41:23WJ53LT4:3:1108:18741:1715,LH00995:41:23WJ53LT4:3:1108:18741:1715,LH00995:41:23WJ53LT4:3:1148:32381:7852,LH00995:41:23WJ53LT4:3:1148:32381:7852,LH00995:41:23WJ53LT4:3:1160:33975:9211,LH00995:41:23WJ53LT4:3:1160:33975:9211,LH00995:41:23WJ53LT4:3:1289:2222:9393,LH00995:41:23WJ53LT4:3:1289:2222:9393,LH00995:41:23WJ53LT4:3:1359:32373:4279,LH00995:41:23WJ53LT4:3:1496:24073:9491,LH00995:41:23WJ53LT4:3:2301:47048:28268,LH00995:41:23WJ53LT4:3:2301:47048:28268,LH00995:41:23WJ53LT4:3:2380:47356:15152,LH00995:41:23WJ53LT4:4:1216:40115:23125,LH00995:41:23WJ53LT4:4:1216:40115:23125,LH00995:41:23WJ53LT4:4:1224:7286:28142,LH00995:41:23WJ53LT4:4:1339:16727:2429,LH00995:41:23WJ53LT4:4:1339:16727:2429,LH00995:41:23WJ53LT4:4:1349:1421:25381,LH00995:41:23WJ53LT4:4:1349:1421:25381,LH00995:41:23WJ53LT4:4:1377:49726:12280,LH00995:41:23WJ53LT4:4:1498:28393:15573,LH00995:41:23WJ53LT4:4:1498:28393:15573,LH00995:41:23WJ53LT4:4:2149:13993:17675,LH00995:41:23WJ53LT4:4:2149:13993:17675,LH00995:41:23WJ53LT4:4:2198:23846:9211,LH00995:41:23WJ53LT4:4:2198:23846:9211,LH00995:41:23WJ53LT4:4:2302:30828:5638,LH00995:41:23WJ53LT4:4:2302:30828:5638,LH00995:41:23WJ53LT4:4:2344:24315:2261,LH00995:41:23WJ53LT4:4:2344:24315:2261,LH00995:41:23WJ53LT4:4:2387:11024:26825,LH00995:41:23WJ53LT4:4:2387:11024:26825,LH00995:41:23WJ53LT4:4:2411:27843:11341,LH00995:41:23WJ53LT4:4:2411:27843:11341,LH00995:41:23WJ53LT4:4:2442:37001:7950,LH00995:41:23WJ53LT4:4:2492:46919:25606,LH00995:41:23WJ53LT4:4:2497:38805:20127,LH00995:41:23WJ53LT4:5:1215:23288:7263,LH00995:41:23WJ53LT4:5:1215:23288:7263,LH00995:41:23WJ53LT4:5:1219:23167:7390,LH00995:41:23WJ53LT4:5:1219:23167:7390,LH00995:41:23WJ53LT4:5:1323:52056:9842,LH00995:41:23WJ53LT4:5:1323:52056:9842,LH00995:41:23WJ53LT4:5:1391:24566:12364,LH00995:41:23WJ53LT4:5:1391:24566:12364,LH00995:41:23WJ53LT4:5:1471:16889:5092,LH00995:41:23WJ53LT4:5:1471:16889:5092,LH00995:41:23WJ53LT4:5:1475:6873:22523,LH00995:41:23WJ53LT4:5:1475:6890:22523,LH00995:41:23WJ53LT4:5:1482:6436:19552,LH00995:41:23WJ53LT4:5:1482:6436:19552,LH00995:41:23WJ53LT4:5:2123:18127:24330,LH00995:41:23WJ53LT4:5:2123:18127:24330,LH00995:41:23WJ53LT4:5:2265:1121:22117,LH00995:41:23WJ53LT4:5:2265:1121:22117,LH00995:41:23WJ53LT4:5:2378:44945:17422,LH00995:41:23WJ53LT4:5:2378:44945:17422,LH00995:41:23WJ53LT4:5:2434:28474:8735,LH00995:41:23WJ53LT4:6:1371:47202:26012,LH00995:41:23WJ53LT4:6:1371:47202:26012,LH00995:41:23WJ53LT4:6:1371:47210:25998,LH00995:41:23WJ53LT4:6:1371:47210:25998,LH00995:41:23WJ53LT4:6:1445:15287:24036,LH00995:41:23WJ53LT4:6:1445:15287:24036,LH00995:41:23WJ53LT4:6:1457:49338:9169,LH00995:41:23WJ53LT4:6:1457:49338:9169,LH00995:41:23WJ53LT4:6:2444:3257:12560,LH00995:41:23WJ53LT4:7:1124:43044:20687,LH00995:41:23WJ53LT4:7:1170:15392:2808,LH00995:41:23WJ53LT4:7:1170:15392:2808,LH00995:41:23WJ53LT4:7:1269:10522:19510,LH00995:41:23WJ53LT4:7:1269:10522:19510,LH00995:41:23WJ53LT4:7:1397:52129:13555,LH00995:41:23WJ53LT4:7:1397:52129:13555,LH00995:41:23WJ53LT4:7:1430:29372:22173,LH00995:41:23WJ53LT4:7:2137:28522:11958,LH00995:41:23WJ53LT4:7:2137:28522:11958,LH00995:41:23WJ53LT4:7:2292:7100:10164,LH00995:41:23WJ53LT4:7:2292:7100:10164,LH00995:41:23WJ53LT4:7:2313:3314:25213,LH00995:41:23WJ53LT4:7:2313:3314:25213,LH00995:41:23WJ53LT4:7:2395:31127:9491,LH00995:41:23WJ53LT4:7:2401:17876:24933,LH00995:41:23WJ53LT4:7:2401:17876:24933,LH00995:41:23WJ53LT4:8:1119:42639:3788,LH00995:41:23WJ53LT4:8:1137:10166:28898,LH00995:41:23WJ53LT4:8:1137:10166:28898,LH00995:41:23WJ53LT4:8:1202:9721:11565,LH00995:41:23WJ53LT4:8:1202:9721:11565,LH00995:41:23WJ53LT4:8:1261:34638:27315,LH00995:41:23WJ53LT4:8:1295:42728:12434,LH00995:41:23WJ53LT4:8:1295:42728:12434,LH00995:41:23WJ53LT4:8:1295:42736:12420,LH00995:41:23WJ53LT4:8:1295:42736:12420,LH00995:41:23WJ53LT4:8:1309:10360:27862,LH00995:41:23WJ53LT4:8:1309:10360:27862,LH00995:41:23WJ53LT4:8:1370:43238:14382,LH00995:41:23WJ53LT4:8:2105:34444:3522,LH00995:41:23WJ53LT4:8:2105:34444:3522,LH00995:41:23WJ53LT4:8:2242:35860:4713,LH00995:41:23WJ53LT4:8:2242:35860:4713,LH00995:41:23WJ53LT4:8:2257:20505:16848,LH00995:41:23WJ53LT4:8:2257:20505:16848,LH00995:41:23WJ53LT4:8:2339:48602:5652,LH00995:41:23WJ53LT4:8:2339:48602:5652,LH00995:41:23WJ53LT4:8:2367:22026:25844,LH00995:41:23WJ53LT4:8:2367:22026:25844

FUCA2

-/-

chr6:143511571

chr6:143511576

CDS

duplication/ITD

365

466

medium

in-frame

|Alpha-L-fucosidase(100%),Alpha-L-fucosidase_C-terminal_domain(100%)

ENSG00000001036.14

ENST00000002165.11

upstream

downstream

duplicates(15),low_entropy(50)

GGAAGAACAGCGCTCCCGAGGCCGCGGGAGCCTGCAGAGAGGACAGCCGGCCTGCGCCGGGACATGCGGCCCCAGGAGCTCCCCAGGCTCGCGTTCCCGTTGCTGCTGTTGCTGTTGCTGCTGCTGC|TGCTGCCGCCGCCGCCGTGCCCTGCCCACAGCGCCACGCGCTTCGACCCCACCTGGGAGTCCCTGGACGCCCGCCAGCTGCCCGCGTGGTTTGACCAGGCCAAGTTCGGCA

MRPQELPRLAFPLLLLLLLLL|lLPPPPCPAHSATRFDPTWESLDARQLPAWFDQAKFG

LH00995:41:23WJ53LT4:1:1191:7512:3873,LH00995:41:23WJ53LT4:1:2144:5506:7179,LH00995:41:23WJ53LT4:1:2145:33117:18459,LH00995:41:23WJ53LT4:1:2450:15441:8693,LH00995:41:23WJ53LT4:2:1156:13192:16904,LH00995:41:23WJ53LT4:2:1252:45705:5092,LH00995:41:23WJ53LT4:2:1406:45042:2794,LH00995:41:23WJ53LT4:2:2156:6776:13975,LH00995:41:23WJ53LT4:2:2181:40204:16722,LH00995:41:23WJ53LT4:2:2209:44476:20001,LH00995:41:23WJ53LT4:2:2311:5903:7838,LH00995:41:23WJ53LT4:2:2373:4511:28912,LH00995:41:23WJ53LT4:2:2421:7035:29473,LH00995:41:23WJ53LT4:3:1143:31855:14003,LH00995:41:23WJ53LT4:3:1209:28822:20071,LH00995:41:23WJ53LT4:3:1242:30723:24485,LH00995:41:23WJ53LT4:3:1404:4665:7095,LH00995:41:23WJ53LT4:3:2409:18563:2752,LH00995:41:23WJ53LT4:4:1183:24712:28366,LH00995:41:23WJ53LT4:4:1339:29679:27049,LH00995:41:23WJ53LT4:4:1388:28579:25956,LH00995:41:23WJ53LT4:4:1389:23838:25031,LH00995:41:23WJ53LT4:4:2120:13362:20701,LH00995:41:23WJ53LT4:4:2337:25674:29389,LH00995:41:23WJ53LT4:4:2364:5126:23223,LH00995:41:23WJ53LT4:4:2431:1890:3298,LH00995:41:23WJ53LT4:5:1178:8030:15363,LH00995:41:23WJ53LT4:5:1195:48278:23195,LH00995:41:23WJ53LT4:5:1278:5247:3592,LH00995:41:23WJ53LT4:5:1426:12140:16988,LH00995:41:23WJ53LT4:5:1444:16792:18431,LH00995:41:23WJ53LT4:5:1486:40762:15251,LH00995:41:23WJ53LT4:5:2139:9964:15265,LH00995:41:23WJ53LT4:5:2145:11056:26236,LH00995:41:23WJ53LT4:5:2202:9519:25620,LH00995:41:23WJ53LT4:5:2209:45026:8202,LH00995:41:23WJ53LT4:5:2236:5684:11299,LH00995:41:23WJ53LT4:5:2251:5611:20225,LH00995:41:23WJ53LT4:6:1198:18936:28226,LH00995:41:23WJ53LT4:6:1444:52105:1799,LH00995:41:23WJ53LT4:6:2366:52072:11327,LH00995:41:23WJ53LT4:6:2482:20586:4769,LH00995:41:23WJ53LT4:7:1370:50017:7460,LH00995:41:23WJ53LT4:7:2174:10392:16904,LH00995:41:23WJ53LT4:7:2209:48521:24401,LH00995:41:23WJ53LT4:7:2333:38796:9155,LH00995:41:23WJ53LT4:7:2349:11032:26558,LH00995:41:23WJ53LT4:7:2417:21217:14634,LH00995:41:23WJ53LT4:7:2417:21233:14634,LH00995:41:23WJ53LT4:8:1120:50875:15615,LH00995:41:23WJ53LT4:8:1335:9875:10711,LH00995:41:23WJ53LT4:8:1492:32721:13149,LH00995:41:23WJ53LT4:8:2162:39363:21066,LH00995:41:23WJ53LT4:8:2385:9430:22103,LH00995:41:23WJ53LT4:3:1311:33570:21710,LH00995:41:23WJ53LT4:3:1311:33578:21724,LH00995:41:23WJ53LT4:1:2450:15441:8693,LH00995:41:23WJ53LT4:2:1156:13192:16904,LH00995:41:23WJ53LT4:2:2156:6776:13975,LH00995:41:23WJ53LT4:2:2311:5903:7838,LH00995:41:23WJ53LT4:2:2421:7035:29473,LH00995:41:23WJ53LT4:3:1143:31855:14003,LH00995:41:23WJ53LT4:3:1209:28822:20071,LH00995:41:23WJ53LT4:5:1426:12140:16988,LH00995:41:23WJ53LT4:7:1370:50017:7460,LH00995:41:23WJ53LT4:1:1359:8621:2317,LH00995:41:23WJ53LT4:2:1226:22948:7292,LH00995:41:23WJ53LT4:3:2225:42623:16568,LH00995:41:23WJ53LT4:3:2250:20545:28268,LH00995:41:23WJ53LT4:4:1383:29210:26797,LH00995:41:23WJ53LT4:4:1383:29226:26797,LH00995:41:23WJ53LT4:4:2375:3241:5974,LH00995:41:23WJ53LT4:4:2403:27115:18740,LH00995:41:23WJ53LT4:5:2111:26403:23756,LH00995:41:23WJ53LT4:6:1437:17924:15629,LH00995:41:23WJ53LT4:6:2347:17633:8483,LH00995:41:23WJ53LT4:7:1216:29897:17086,LH00995:41:23WJ53LT4:7:2268:35205:5232,LH00995:41:23WJ53LT4:7:2268:35213:5218,LH00995:41:23WJ53LT4:8:2182:22778:8567,LH00995:41:23WJ53LT4:8:2272:4131:12140,LH00995:41:23WJ53LT4:8:2337:30868:19664,LH00995:41:23WJ53LT4:1:1191:7512:3873,LH00995:41:23WJ53LT4:1:2144:5506:7179,LH00995:41:23WJ53LT4:1:2145:33117:18459,LH00995:41:23WJ53LT4:2:1252:45705:5092,LH00995:41:23WJ53LT4:2:1406:45042:2794,LH00995:41:23WJ53LT4:2:2181:40204:16722,LH00995:41:23WJ53LT4:2:2209:44476:20001,LH00995:41:23WJ53LT4:2:2373:4511:28912,LH00995:41:23WJ53LT4:3:1242:30723:24485,LH00995:41:23WJ53LT4:3:1404:4665:7095,LH00995:41:23WJ53LT4:3:2409:18563:2752,LH00995:41:23WJ53LT4:4:1183:24712:28366,LH00995:41:23WJ53LT4:4:1339:29679:27049,LH00995:41:23WJ53LT4:4:1388:28579:25956,LH00995:41:23WJ53LT4:4:1389:23838:25031,LH00995:41:23WJ53LT4:4:2120:13362:20701,LH00995:41:23WJ53LT4:4:2337:25674:29389,LH00995:41:23WJ53LT4:4:2364:5126:23223,LH00995:41:23WJ53LT4:4:2431:1890:3298,LH00995:41:23WJ53LT4:5:1178:8030:15363,LH00995:41:23WJ53LT4:5:1195:48278:23195,LH00995:41:23WJ53LT4:5:1278:5247:3592,LH00995:41:23WJ53LT4:5:1444:16792:18431,LH00995:41:23WJ53LT4:5:1486:40762:15251,LH00995:41:23WJ53LT4:5:2139:9964:15265,LH00995:41:23WJ53LT4:5:2145:11056:26236,LH00995:41:23WJ53LT4:5:2202:9519:25620,LH00995:41:23WJ53LT4:5:2209:45026:8202,LH00995:41:23WJ53LT4:5:2236:5684:11299,LH00995:41:23WJ53LT4:5:2251:5611:20225,LH00995:41:23WJ53LT4:6:1198:18936:28226,LH00995:41:23WJ53LT4:6:1444:52105:1799,LH00995:41:23WJ53LT4:6:2366:52072:11327,LH00995:41:23WJ53LT4:6:2482:20586:4769,LH00995:41:23WJ53LT4:7:2174:10392:16904,LH00995:41:23WJ53LT4:7:2209:48521:24401,LH00995:41:23WJ53LT4:7:2333:38796:9155,LH00995:41:23WJ53LT4:7:2349:11032:26558,LH00995:41:23WJ53LT4:7:2417:21217:14634,LH00995:41:23WJ53LT4:7:2417:21233:14634,LH00995:41:23WJ53LT4:8:1120:50875:15615,LH00995:41:23WJ53LT4:8:1335:9875:10711,LH00995:41:23WJ53LT4:8:1492:32721:13149,LH00995:41:23WJ53LT4:8:2162:39363:21066,LH00995:41:23WJ53LT4:8:2385:9430:22103

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

656

605

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(63)

ATTCCACCTCAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGACAGAGCACACAGATGGTAAGAATATCTCCATGGAGGATGACGTCGGGGAAAGCAGCCAGTCCAG

STSDSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELKTEHTDGKNISMEDDVGESSQS

LH00995:41:23WJ53LT4:4:1495:28789:14606,LH00995:41:23WJ53LT4:5:2468:50187:2906,LH00995:41:23WJ53LT4:1:1389:19186:27259,LH00995:41:23WJ53LT4:1:1475:39751:25914,LH00995:41:23WJ53LT4:1:2331:16670:13709,LH00995:41:23WJ53LT4:1:2339:37534:1701,LH00995:41:23WJ53LT4:1:2343:42939:15265,LH00995:41:23WJ53LT4:2:1330:30019:3088,LH00995:41:23WJ53LT4:2:1496:13661:9001,LH00995:41:23WJ53LT4:3:1185:44281:12042,LH00995:41:23WJ53LT4:4:1147:49063:27189,LH00995:41:23WJ53LT4:4:1366:23280:19412,LH00995:41:23WJ53LT4:4:1497:26475:17773,LH00995:41:23WJ53LT4:6:1389:21718:6759,LH00995:41:23WJ53LT4:7:1377:13451:3788,LH00995:41:23WJ53LT4:7:2133:49807:18529,LH00995:41:23WJ53LT4:7:2155:5369:20897,LH00995:41:23WJ53LT4:8:1475:21039:13793,LH00995:41:23WJ53LT4:8:2475:18410:25970,LH00995:41:23WJ53LT4:1:1322:51109:27427,LH00995:41:23WJ53LT4:1:1356:45268:11369,LH00995:41:23WJ53LT4:1:1438:1526:5890,LH00995:41:23WJ53LT4:1:1454:4560:1841,LH00995:41:23WJ53LT4:1:2139:25877:26544,LH00995:41:23WJ53LT4:1:2457:20012:27343,LH00995:41:23WJ53LT4:2:1229:50721:1897,LH00995:41:23WJ53LT4:2:1344:42275:15433,LH00995:41:23WJ53LT4:2:1351:52121:7039,LH00995:41:23WJ53LT4:2:1374:35107:1813,LH00995:41:23WJ53LT4:2:2126:48197:6409,LH00995:41:23WJ53LT4:2:2470:14891:27946,LH00995:41:23WJ53LT4:3:1130:11056:4069,LH00995:41:23WJ53LT4:3:1161:1663:16526,LH00995:41:23WJ53LT4:3:2133:24040:17422,LH00995:41:23WJ53LT4:3:2182:16080:5680,LH00995:41:23WJ53LT4:3:2296:23992:24877,LH00995:41:23WJ53LT4:4:1210:18062:28338,LH00995:41:23WJ53LT4:4:1404:6647:24344,LH00995:41:23WJ53LT4:4:1495:28789:14606,LH00995:41:23WJ53LT4:4:2347:6420:20029,LH00995:41:23WJ53LT4:5:1160:47064:22131,LH00995:41:23WJ53LT4:5:1246:47194:2205,LH00995:41:23WJ53LT4:5:1281:27163:6997,LH00995:41:23WJ53LT4:5:1283:29275:3704,LH00995:41:23WJ53LT4:5:2130:19890:11607,LH00995:41:23WJ53LT4:5:2208:9810:7852,LH00995:41:23WJ53LT4:5:2359:44095:22229,LH00995:41:23WJ53LT4:5:2473:31087:16708,LH00995:41:23WJ53LT4:6:1342:8103:14059,LH00995:41:23WJ53LT4:6:2130:46239:24849,LH00995:41:23WJ53LT4:6:2130:47453:9183,LH00995:41:23WJ53LT4:6:2139:51813:27637,LH00995:41:23WJ53LT4:6:2329:10611:23728,LH00995:41:23WJ53LT4:6:2349:15683:8356,LH00995:41:23WJ53LT4:6:2463:8200:17394,LH00995:41:23WJ53LT4:7:1289:50244:10739,LH00995:41:23WJ53LT4:7:1289:50252:10753,LH00995:41:23WJ53LT4:7:1387:28902:12560,LH00995:41:23WJ53LT4:7:2314:40981:10921,LH00995:41:23WJ53LT4:7:2316:23741:12981,LH00995:41:23WJ53LT4:7:2424:21176:1757,LH00995:41:23WJ53LT4:8:1275:44079:1911,LH00995:41:23WJ53LT4:8:1312:37219:4041,LH00995:41:23WJ53LT4:8:1425:32009:14494,LH00995:41:23WJ53LT4:8:2169:7626:24499,LH00995:41:23WJ53LT4:8:2248:22819:21220,LH00995:41:23WJ53LT4:1:1322:51109:27427,LH00995:41:23WJ53LT4:1:1356:45268:11369,LH00995:41:23WJ53LT4:1:1438:1526:5890,LH00995:41:23WJ53LT4:1:1454:4560:1841,LH00995:41:23WJ53LT4:1:2139:25877:26544,LH00995:41:23WJ53LT4:1:2457:20012:27343,LH00995:41:23WJ53LT4:2:1229:50721:1897,LH00995:41:23WJ53LT4:2:1344:42275:15433,LH00995:41:23WJ53LT4:2:1351:52121:7039,LH00995:41:23WJ53LT4:2:1374:35107:1813,LH00995:41:23WJ53LT4:2:2126:48197:6409,LH00995:41:23WJ53LT4:2:2470:14891:27946,LH00995:41:23WJ53LT4:3:1130:11056:4069,LH00995:41:23WJ53LT4:3:1161:1663:16526,LH00995:41:23WJ53LT4:3:2133:24040:17422,LH00995:41:23WJ53LT4:3:2182:16080:5680,LH00995:41:23WJ53LT4:3:2296:23992:24877,LH00995:41:23WJ53LT4:4:1210:18062:28338,LH00995:41:23WJ53LT4:4:1404:6647:24344,LH00995:41:23WJ53LT4:4:2347:6420:20029,LH00995:41:23WJ53LT4:5:1160:47064:22131,LH00995:41:23WJ53LT4:5:1246:47194:2205,LH00995:41:23WJ53LT4:5:1281:27163:6997,LH00995:41:23WJ53LT4:5:1283:29275:3704,LH00995:41:23WJ53LT4:5:2130:19890:11607,LH00995:41:23WJ53LT4:5:2208:9810:7852,LH00995:41:23WJ53LT4:5:2359:44095:22229,LH00995:41:23WJ53LT4:5:2473:31087:16708,LH00995:41:23WJ53LT4:6:1342:8103:14059,LH00995:41:23WJ53LT4:6:2130:46239:24849,LH00995:41:23WJ53LT4:6:2130:47453:9183,LH00995:41:23WJ53LT4:6:2139:51813:27637,LH00995:41:23WJ53LT4:6:2329:10611:23728,LH00995:41:23WJ53LT4:6:2349:15683:8356,LH00995:41:23WJ53LT4:6:2463:8200:17394,LH00995:41:23WJ53LT4:7:1289:50244:10739,LH00995:41:23WJ53LT4:7:1289:50252:10753,LH00995:41:23WJ53LT4:7:1387:28902:12560,LH00995:41:23WJ53LT4:7:2314:40981:10921,LH00995:41:23WJ53LT4:7:2316:23741:12981,LH00995:41:23WJ53LT4:7:2424:21176:1757,LH00995:41:23WJ53LT4:8:1275:44079:1911,LH00995:41:23WJ53LT4:8:1312:37219:4041,LH00995:41:23WJ53LT4:8:1425:32009:14494,LH00995:41:23WJ53LT4:8:2169:7626:24499,LH00995:41:23WJ53LT4:8:2248:22819:21220,LH00995:41:23WJ53LT4:4:1241:39080:19706,LH00995:41:23WJ53LT4:4:1372:23701:14676,LH00995:41:23WJ53LT4:5:1359:28336:27329,LH00995:41:23WJ53LT4:7:1226:31710:16918,LH00995:41:23WJ53LT4:7:1455:33061:21024,LH00995:41:23WJ53LT4:7:1455:33069:21038,LH00995:41:23WJ53LT4:2:2126:48197:6409,LH00995:41:23WJ53LT4:2:2126:48197:6409,LH00995:41:23WJ53LT4:2:2126:48197:6409,LH00995:41:23WJ53LT4:3:1130:11056:4069,LH00995:41:23WJ53LT4:5:1283:29275:3704

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000240764.4

ENST00000611914.1

ENST00000252087.3

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

CCACGAGGTCTCCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGC

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

LH00995:41:23WJ53LT4:1:2203:5781:29431,LH00995:41:23WJ53LT4:1:2382:2845:18207,LH00995:41:23WJ53LT4:1:2382:2861:18207,LH00995:41:23WJ53LT4:1:2382:2877:18207,LH00995:41:23WJ53LT4:1:2382:2885:18221,LH00995:41:23WJ53LT4:2:1189:2990:18123,LH00995:41:23WJ53LT4:2:1205:45341:29207,LH00995:41:23WJ53LT4:2:1279:27527:18838,LH00995:41:23WJ53LT4:2:1363:13305:14494,LH00995:41:23WJ53LT4:2:1363:13313:14508,LH00995:41:23WJ53LT4:2:1477:13548:14130,LH00995:41:23WJ53LT4:2:2338:28862:12910,LH00995:41:23WJ53LT4:2:2498:13418:6451,LH00995:41:23WJ53LT4:2:2498:13434:6451,LH00995:41:23WJ53LT4:3:1181:20651:11719,LH00995:41:23WJ53LT4:3:1267:16047:29025,LH00995:41:23WJ53LT4:3:1402:22616:12854,LH00995:41:23WJ53LT4:3:2119:28943:5036,LH00995:41:23WJ53LT4:3:2257:7334:9982,LH00995:41:23WJ53LT4:3:2267:24283:27231,LH00995:41:23WJ53LT4:3:2318:12819:4545,LH00995:41:23WJ53LT4:3:2318:12828:4531,LH00995:41:23WJ53LT4:3:2318:12844:4531,LH00995:41:23WJ53LT4:3:2351:30480:5372,LH00995:41:23WJ53LT4:3:2459:38966:29011,LH00995:41:23WJ53LT4:3:2480:49338:26993,LH00995:41:23WJ53LT4:3:2498:2116:4223,LH00995:41:23WJ53LT4:4:1237:2529:25620,LH00995:41:23WJ53LT4:4:1257:20092:29249,LH00995:41:23WJ53LT4:4:1425:18596:21864,LH00995:41:23WJ53LT4:4:1468:14963:20673,LH00995:41:23WJ53LT4:4:1469:10392:8441,LH00995:41:23WJ53LT4:4:2351:4535:23406,LH00995:41:23WJ53LT4:5:1378:2197:23532,LH00995:41:23WJ53LT4:5:1494:13418:21640,LH00995:41:23WJ53LT4:5:2412:28862:27399,LH00995:41:23WJ53LT4:6:2492:27276:20057,LH00995:41:23WJ53LT4:7:1142:42364:23013,LH00995:41:23WJ53LT4:7:1270:16792:6829,LH00995:41:23WJ53LT4:7:1334:42348:19426,LH00995:41:23WJ53LT4:7:1478:36620:3873,LH00995:41:23WJ53LT4:7:1480:36742:22355,LH00995:41:23WJ53LT4:7:2117:14526:5540,LH00995:41:23WJ53LT4:7:2273:42793:11117,LH00995:41:23WJ53LT4:7:2279:24550:13149,LH00995:41:23WJ53LT4:7:2345:2181:16077,LH00995:41:23WJ53LT4:8:1455:49483:5610,LH00995:41:23WJ53LT4:8:2262:43181:15517,LH00995:41:23WJ53LT4:8:2492:2788:3284,LH00995:41:23WJ53LT4:1:1240:7132:5568,LH00995:41:23WJ53LT4:1:1482:37089:10879,LH00995:41:23WJ53LT4:1:1482:37098:10865,LH00995:41:23WJ53LT4:1:1482:37114:10865,LH00995:41:23WJ53LT4:2:1181:39152:20169,LH00995:41:23WJ53LT4:2:1321:7375:13863,LH00995:41:23WJ53LT4:2:1321:7391:13863,LH00995:41:23WJ53LT4:2:1321:7399:13877,LH00995:41:23WJ53LT4:2:2127:23207:15671,LH00995:41:23WJ53LT4:2:2436:36928:5470,LH00995:41:23WJ53LT4:3:1136:32729:25297,LH00995:41:23WJ53LT4:3:1352:8588:10108,LH00995:41:23WJ53LT4:3:2149:46247:4377,LH00995:41:23WJ53LT4:3:2431:20012:6213,LH00995:41:23WJ53LT4:4:1235:38416:8076,LH00995:41:23WJ53LT4:4:1390:4123:23672,LH00995:41:23WJ53LT4:4:2374:36798:13009,LH00995:41:23WJ53LT4:5:1167:45204:4307,LH00995:41:23WJ53LT4:5:1230:30682:7936,LH00995:41:23WJ53LT4:5:2179:45544:4083,LH00995:41:23WJ53LT4:5:2179:51660:1560,LH00995:41:23WJ53LT4:5:2250:13459:12630,LH00995:41:23WJ53LT4:5:2394:45252:19889,LH00995:41:23WJ53LT4:5:2430:33247:21934,LH00995:41:23WJ53LT4:6:1372:14130:23125,LH00995:41:23WJ53LT4:6:1454:12836:9786,LH00995:41:23WJ53LT4:6:2312:38141:21724,LH00995:41:23WJ53LT4:6:2313:23790:12364,LH00995:41:23WJ53LT4:6:2452:27737:13737,LH00995:41:23WJ53LT4:7:1187:45293:21640,LH00995:41:23WJ53LT4:7:1291:32324:21150,LH00995:41:23WJ53LT4:7:1440:30440:13849,LH00995:41:23WJ53LT4:7:1479:48375:19608,LH00995:41:23WJ53LT4:8:1373:34509:18599,LH00995:41:23WJ53LT4:8:2246:48003:21346,LH00995:41:23WJ53LT4:8:2276:2780:8595,LH00995:41:23WJ53LT4:5:2406:34387:19650,LH00995:41:23WJ53LT4:7:2235:32033:10024,LH00995:41:23WJ53LT4:7:2235:32041:10038

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000253767.3

ENST00000611914.1

ENST00000398604.3

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000253305.2

ENST00000611914.1

ENST00000520790.1

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000253846.2

ENST00000611914.1

ENST00000398610.2

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000240184.7

ENST00000611914.1

ENST00000308177.5

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000242419.5

ENST00000611914.1

ENST00000306593.1

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000253159.3

ENST00000611914.1

ENST00000252085.4

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000253873.6

ENST00000611914.1

ENST00000398587.7

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000254122.3

ENST00000611914.1

ENST00000398594.4

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

238

3496

medium

in-frame

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

ENSG00000253485.2

ENSG00000261934.2

ENST00000611914.1

ENST00000573521.1

downstream

upstream

duplicates(30),low_entropy(3),mismappers(2),mismatches(3)

HEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADG

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

ACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGC

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

LH00995:41:23WJ53LT4:1:1194:47283:2611,LH00995:41:23WJ53LT4:1:2217:43772:27161,LH00995:41:23WJ53LT4:1:2255:5797:25087,LH00995:41:23WJ53LT4:1:2465:20400:22467,LH00995:41:23WJ53LT4:2:1119:36823:16806,LH00995:41:23WJ53LT4:2:1194:6809:14200,LH00995:41:23WJ53LT4:2:1247:37073:29347,LH00995:41:23WJ53LT4:2:1249:5263:15643,LH00995:41:23WJ53LT4:2:1249:5280:15643,LH00995:41:23WJ53LT4:2:2121:15602:11103,LH00995:41:23WJ53LT4:2:2156:4988:9141,LH00995:41:23WJ53LT4:2:2343:28239:29655,LH00995:41:23WJ53LT4:3:1175:14672:21430,LH00995:41:23WJ53LT4:3:1191:6453:18235,LH00995:41:23WJ53LT4:3:1231:46183:27021,LH00995:41:23WJ53LT4:3:1289:20230:5470,LH00995:41:23WJ53LT4:3:2169:37769:11047,LH00995:41:23WJ53LT4:3:2305:20052:24751,LH00995:41:23WJ53LT4:3:2331:37696:14396,LH00995:41:23WJ53LT4:3:2346:24445:8342,LH00995:41:23WJ53LT4:3:2469:23021:13555,LH00995:41:23WJ53LT4:4:2283:36798:11299,LH00995:41:23WJ53LT4:4:2283:36814:11299,LH00995:41:23WJ53LT4:5:1118:18539:20645,LH00995:41:23WJ53LT4:5:1118:18547:20659,LH00995:41:23WJ53LT4:5:1183:43125:4517,LH00995:41:23WJ53LT4:5:1183:43141:4517,LH00995:41:23WJ53LT4:5:1275:36960:27553,LH00995:41:23WJ53LT4:5:1309:18725:14017,LH00995:41:23WJ53LT4:5:1359:11922:11341,LH00995:41:23WJ53LT4:5:1359:11930:11327,LH00995:41:23WJ53LT4:5:2411:20489:26657,LH00995:41:23WJ53LT4:5:2411:20505:26657,LH00995:41:23WJ53LT4:5:2415:21848:26460,LH00995:41:23WJ53LT4:6:1248:11703:23742,LH00995:41:23WJ53LT4:6:1313:4527:5148,LH00995:41:23WJ53LT4:6:2162:26427:25003,LH00995:41:23WJ53LT4:6:2451:22851:18473,LH00995:41:23WJ53LT4:7:1117:34574:8679,LH00995:41:23WJ53LT4:7:1117:34590:8679,LH00995:41:23WJ53LT4:7:1161:44055:18291,LH00995:41:23WJ53LT4:7:1310:49564:15419,LH00995:41:23WJ53LT4:7:1310:49572:15433,LH00995:41:23WJ53LT4:7:1318:19008:22943,LH00995:41:23WJ53LT4:7:2359:45754:29641,LH00995:41:23WJ53LT4:8:1318:26589:2499,LH00995:41:23WJ53LT4:8:1439:21767:2135,LH00995:41:23WJ53LT4:8:2132:19656:13415,LH00995:41:23WJ53LT4:8:2385:49483:27245,LH00995:41:23WJ53LT4:8:2385:49500:27245,LH00995:41:23WJ53LT4:1:1144:4511:10753,LH00995:41:23WJ53LT4:1:1360:31564:10556,LH00995:41:23WJ53LT4:1:1364:17212:17955,LH00995:41:23WJ53LT4:1:1454:30075:28072,LH00995:41:23WJ53LT4:1:2239:26710:7278,LH00995:41:23WJ53LT4:1:2487:3629:3284,LH00995:41:23WJ53LT4:2:1102:27721:5498,LH00995:41:23WJ53LT4:2:1102:27729:5512,LH00995:41:23WJ53LT4:2:1102:27737:5498,LH00995:41:23WJ53LT4:2:1193:31160:24008,LH00995:41:23WJ53LT4:2:1320:18038:26951,LH00995:41:23WJ53LT4:3:1334:45293:20659,LH00995:41:23WJ53LT4:3:2123:48682:9015,LH00995:41:23WJ53LT4:3:2402:23304:6535,LH00995:41:23WJ53LT4:3:2423:8152:19552,LH00995:41:23WJ53LT4:4:1212:1995:15363,LH00995:41:23WJ53LT4:4:1315:23692:23910,LH00995:41:23WJ53LT4:4:1347:37591:18838,LH00995:41:23WJ53LT4:4:1347:37599:18824,LH00995:41:23WJ53LT4:4:1373:17957:15825,LH00995:41:23WJ53LT4:4:1477:3338:19034,LH00995:41:23WJ53LT4:4:2464:17220:23910,LH00995:41:23WJ53LT4:5:1285:37882:25003,LH00995:41:23WJ53LT4:5:1350:15166:25171,LH00995:41:23WJ53LT4:5:1388:45592:26895,LH00995:41:23WJ53LT4:5:1421:10959:3676,LH00995:41:23WJ53LT4:5:2286:33732:9267,LH00995:41:23WJ53LT4:5:2340:36547:12742,LH00995:41:23WJ53LT4:5:2394:15570:28562,LH00995:41:23WJ53LT4:5:2396:11501:22131,LH00995:41:23WJ53LT4:5:2421:16436:5372,LH00995:41:23WJ53LT4:6:2314:30706:10500,LH00995:41:23WJ53LT4:6:2396:35625:2597,LH00995:41:23WJ53LT4:8:1248:24760:10066,LH00995:41:23WJ53LT4:8:1255:51757:26362,LH00995:41:23WJ53LT4:8:1379:23984:15979,LH00995:41:23WJ53LT4:8:1384:10894:16764,LH00995:41:23WJ53LT4:8:1384:10910:16764,LH00995:41:23WJ53LT4:8:1452:43828:2457,LH00995:41:23WJ53LT4:8:1497:25658:11789,LH00995:41:23WJ53LT4:8:1497:25666:11803,LH00995:41:23WJ53LT4:8:2241:26403:21430,LH00995:41:23WJ53LT4:8:2428:12803:4041,LH00995:41:23WJ53LT4:8:2428:12819:4041,LH00995:41:23WJ53LT4:2:2174:11331:29571,LH00995:41:23WJ53LT4:2:2174:11339:29557,LH00995:41:23WJ53LT4:2:2174:11339:29585,LH00995:41:23WJ53LT4:3:1186:31192:10893

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

191

3496

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(41),mismappers(8),mismatches(1)

GVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

257

353

medium

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(15),mismappers(1)

CACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCCCTACC

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPPPY

LH00995:41:23WJ53LT4:1:2103:23612:1098,LH00995:41:23WJ53LT4:1:2106:22568:18515,LH00995:41:23WJ53LT4:1:2383:37065:23027,LH00995:41:23WJ53LT4:2:2388:32575:26516,LH00995:41:23WJ53LT4:3:1291:31402:13163,LH00995:41:23WJ53LT4:3:2128:21152:28926,LH00995:41:23WJ53LT4:3:2322:10465:23223,LH00995:41:23WJ53LT4:3:2404:50632:12784,LH00995:41:23WJ53LT4:4:1415:19008:10893,LH00995:41:23WJ53LT4:4:2456:20594:17198,LH00995:41:23WJ53LT4:4:2495:23231:22831,LH00995:41:23WJ53LT4:5:2241:49799:10612,LH00995:41:23WJ53LT4:5:2326:50535:14578,LH00995:41:23WJ53LT4:6:1116:45616:11215,LH00995:41:23WJ53LT4:6:1272:25650:21248,LH00995:41:23WJ53LT4:6:1486:51182:6535,LH00995:41:23WJ53LT4:6:2305:17698:13331,LH00995:41:23WJ53LT4:6:2460:4034:15699,LH00995:41:23WJ53LT4:6:2486:20926:12084,LH00995:41:23WJ53LT4:7:1204:22746:26082,LH00995:41:23WJ53LT4:7:2253:27835:1210,LH00995:41:23WJ53LT4:7:2258:32349:5470,LH00995:41:23WJ53LT4:7:2258:35366:3550,LH00995:41:23WJ53LT4:8:1477:3993:14480,LH00995:41:23WJ53LT4:8:2110:28749:18151,LH00995:41:23WJ53LT4:8:2312:10271:26642,LH00995:41:23WJ53LT4:1:1143:40293:27469,LH00995:41:23WJ53LT4:1:2401:19785:23336,LH00995:41:23WJ53LT4:2:1257:25270:15208,LH00995:41:23WJ53LT4:2:2484:18903:24246,LH00995:41:23WJ53LT4:3:1196:40965:4111,LH00995:41:23WJ53LT4:3:1196:40973:4125,LH00995:41:23WJ53LT4:3:1498:30577:12995,LH00995:41:23WJ53LT4:4:1181:24938:24639,LH00995:41:23WJ53LT4:4:1240:13944:25858,LH00995:41:23WJ53LT4:4:1420:47582:16610,LH00995:41:23WJ53LT4:4:1424:27503:16666,LH00995:41:23WJ53LT4:4:2172:17059:4825,LH00995:41:23WJ53LT4:4:2257:28619:26390,LH00995:41:23WJ53LT4:4:2374:51182:28366,LH00995:41:23WJ53LT4:5:1377:27689:28142,LH00995:41:23WJ53LT4:5:1443:43246:12294,LH00995:41:23WJ53LT4:6:1228:35949:4475,LH00995:41:23WJ53LT4:6:1338:31338:19244,LH00995:41:23WJ53LT4:6:1396:44079:4349,LH00995:41:23WJ53LT4:6:2268:21686:6311,LH00995:41:23WJ53LT4:7:1334:24283:11201,LH00995:41:23WJ53LT4:7:1334:24299:11201,LH00995:41:23WJ53LT4:7:2113:47865:29515,LH00995:41:23WJ53LT4:7:2226:13685:8679,LH00995:41:23WJ53LT4:7:2254:20222:18431,LH00995:41:23WJ53LT4:8:1209:21597:6549,LH00995:41:23WJ53LT4:8:1249:36677:1645,LH00995:41:23WJ53LT4:8:1326:16654:15335,LH00995:41:23WJ53LT4:8:1485:29776:9225,LH00995:41:23WJ53LT4:8:2204:34201:2738,LH00995:41:23WJ53LT4:8:2219:25626:27147,LH00995:41:23WJ53LT4:8:2297:30148:11047,LH00995:41:23WJ53LT4:8:2439:24809:8721

MBD4

-/-

chr3:129436677

chr3:129436697

CDS

duplication/ITD

438

435

medium

in-frame

Methyl-CpG_binding_domain(100%)|

ENSG00000129071.10

ENST00000249910.5

upstream

downstream

duplicates(56)

AGGAAAGGTGACTATTTTGAAAGGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTCAGGTTTTGTTCAAAGTGATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAACCTGTTGCACAAAAAAGTCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTGAGACCCTCAGTGTGACCAGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTCAGGATCAAATT|CATTGAGTTCAGGATCAAATTTTTGTTCTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAAGACTCAGAACACAACGAGAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAGTAGAAGTTGTGGAAAGGAAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGACAACAACTGCTCACCAACCAGGAAAGACTTCACTG

GKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSN|sLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFT

LH00995:41:23WJ53LT4:1:1402:15918:16582,LH00995:41:23WJ53LT4:2:1175:16161:7642,LH00995:41:23WJ53LT4:2:1404:47048:27623,LH00995:41:23WJ53LT4:2:2162:41798:28282,LH00995:41:23WJ53LT4:3:1231:10223:2457,LH00995:41:23WJ53LT4:4:1294:42825:21850,LH00995:41:23WJ53LT4:4:1327:13596:29151,LH00995:41:23WJ53LT4:4:1327:13612:29151,LH00995:41:23WJ53LT4:4:2158:48262:3270,LH00995:41:23WJ53LT4:5:2153:41685:1462,LH00995:41:23WJ53LT4:8:1115:4891:4489,LH00995:41:23WJ53LT4:4:1294:42809:21850,LH00995:41:23WJ53LT4:7:1418:7941:20841,LH00995:41:23WJ53LT4:1:2438:46878:29179,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:3:1388:9260:21864,LH00995:41:23WJ53LT4:3:1388:9260:21864,LH00995:41:23WJ53LT4:3:2139:3807:20743,LH00995:41:23WJ53LT4:3:2139:3807:20743,LH00995:41:23WJ53LT4:3:2221:31426:17352,LH00995:41:23WJ53LT4:3:2221:31426:17352,LH00995:41:23WJ53LT4:5:1250:52064:2345,LH00995:41:23WJ53LT4:5:1250:52064:2345,LH00995:41:23WJ53LT4:5:1477:49516:16820,LH00995:41:23WJ53LT4:5:1477:49516:16820,LH00995:41:23WJ53LT4:5:2359:42299:21052,LH00995:41:23WJ53LT4:5:2359:42299:21052,LH00995:41:23WJ53LT4:6:1169:25262:3592,LH00995:41:23WJ53LT4:6:1169:25262:3592,LH00995:41:23WJ53LT4:6:1331:52113:24120,LH00995:41:23WJ53LT4:6:1331:52113:24120,LH00995:41:23WJ53LT4:6:2141:49524:7530,LH00995:41:23WJ53LT4:6:2193:48076:9954,LH00995:41:23WJ53LT4:6:2193:48076:9954,LH00995:41:23WJ53LT4:6:2329:30391:9590,LH00995:41:23WJ53LT4:6:2329:30399:9604,LH00995:41:23WJ53LT4:7:1258:22269:21612,LH00995:41:23WJ53LT4:7:1258:22269:21612,LH00995:41:23WJ53LT4:7:1258:22277:21626,LH00995:41:23WJ53LT4:7:1258:22277:21626,LH00995:41:23WJ53LT4:7:1381:41596:24288,LH00995:41:23WJ53LT4:7:1381:41596:24288,LH00995:41:23WJ53LT4:7:1490:17309:15096,LH00995:41:23WJ53LT4:7:1490:17309:15096,LH00995:41:23WJ53LT4:7:1490:17318:15110,LH00995:41:23WJ53LT4:7:1490:17318:15110,LH00995:41:23WJ53LT4:8:2217:17706:27077,LH00995:41:23WJ53LT4:8:2217:17706:27077,LH00995:41:23WJ53LT4:8:2361:47056:4405,LH00995:41:23WJ53LT4:8:2361:47056:4405,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:2:1231:16331:6002,LH00995:41:23WJ53LT4:3:1134:5352:18151,LH00995:41:23WJ53LT4:3:1134:5369:18151,LH00995:41:23WJ53LT4:3:1174:51239:12518,LH00995:41:23WJ53LT4:3:1174:51255:12518,LH00995:41:23WJ53LT4:3:1174:51263:12532,LH00995:41:23WJ53LT4:3:1174:51271:12518,LH00995:41:23WJ53LT4:3:1174:51271:12546,LH00995:41:23WJ53LT4:3:1174:51279:12532,LH00995:41:23WJ53LT4:3:2293:37316:14494,LH00995:41:23WJ53LT4:7:1381:41596:24288,LH00995:41:23WJ53LT4:7:2230:13879:9604,LH00995:41:23WJ53LT4:7:2411:31329:11271,LH00995:41:23WJ53LT4:7:2411:31338:11257,LH00995:41:23WJ53LT4:7:2411:31346:11271,LH00995:41:23WJ53LT4:6:1478:46361:25395

MCU

+/+

chr10:72692204

chr10:72692199

CDS

duplication/ITD

101

medium

in-frame

|Mitochondrial_calcium_uniporter(100%)

ENSG00000156026.14

ENST00000373053.7

downstream

upstream

duplicates(8)

TGGCGGCCGCCGCAGGTAGATCGCTCCTGCTGCTCCTCTCCTCTCGGGGCGG|GGGCGGCGGCGGCGGGGGCGCCGGCGGCTGCGGGGCGCTGACTGCCGGCTGCTTCCCTGGGCTGGGCGTCAGCCGCCACCGGCAGCAGCAGCACCACCGGACG___GTACACCAGAGGATCGCTTCCT

AAAAGRSLLLLLSSRGg|GGGGGGAGGCGALTAGCFPGLGVSRHRQQQHHRTVHQRIAS

LH00995:41:23WJ53LT4:1:1401:33708:16652,LH00995:41:23WJ53LT4:2:1181:30577:16946,LH00995:41:23WJ53LT4:2:2193:14834:1673,LH00995:41:23WJ53LT4:2:2483:24501:10570,LH00995:41:23WJ53LT4:3:1217:11687:28366,LH00995:41:23WJ53LT4:3:2113:42502:4867,LH00995:41:23WJ53LT4:3:2113:42510:4853,LH00995:41:23WJ53LT4:4:1182:5417:1112,LH00995:41:23WJ53LT4:4:1387:44184:2261,LH00995:41:23WJ53LT4:4:1390:28822:25507,LH00995:41:23WJ53LT4:4:1390:28838:25507,LH00995:41:23WJ53LT4:4:2102:40148:24555,LH00995:41:23WJ53LT4:4:2348:28546:19819,LH00995:41:23WJ53LT4:5:1194:23579:21024,LH00995:41:23WJ53LT4:5:1234:51433:21766,LH00995:41:23WJ53LT4:5:1409:26718:20771,LH00995:41:23WJ53LT4:5:2161:48019:7670,LH00995:41:23WJ53LT4:5:2460:42906:1981,LH00995:41:23WJ53LT4:6:1158:38311:15377,LH00995:41:23WJ53LT4:6:1159:51376:22229,LH00995:41:23WJ53LT4:6:1398:48901:18277,LH00995:41:23WJ53LT4:6:1405:31847:14242,LH00995:41:23WJ53LT4:7:1208:10983:24653,LH00995:41:23WJ53LT4:7:1303:36232:13401,LH00995:41:23WJ53LT4:7:1366:9891:2780,LH00995:41:23WJ53LT4:7:1440:22358:16245,LH00995:41:23WJ53LT4:7:1440:22366:16259,LH00995:41:23WJ53LT4:7:2197:43214:3494,LH00995:41:23WJ53LT4:7:2477:3540:22103,LH00995:41:23WJ53LT4:8:1207:4357:10458,LH00995:41:23WJ53LT4:8:1223:37049:26586,LH00995:41:23WJ53LT4:8:1236:8936:23658,LH00995:41:23WJ53LT4:8:2130:19753:20337,LH00995:41:23WJ53LT4:8:2324:11355:5792,LH00995:41:23WJ53LT4:3:1121:10312:20211,LH00995:41:23WJ53LT4:3:1264:22034:15685

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

791

127

medium

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(4)

AACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCCCCAATGC

NTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:41:23WJ53LT4:1:2161:6752:24863,LH00995:41:23WJ53LT4:1:2355:14915:2093,LH00995:41:23WJ53LT4:3:1444:29865:11005,LH00995:41:23WJ53LT4:3:2189:27268:28870,LH00995:41:23WJ53LT4:4:2226:46409:24527,LH00995:41:23WJ53LT4:4:2402:22269:10486,LH00995:41:23WJ53LT4:4:2402:22285:10458,LH00995:41:23WJ53LT4:5:1418:17496:25872,LH00995:41:23WJ53LT4:5:2384:47841:21878,LH00995:41:23WJ53LT4:5:2384:47849:21892,LH00995:41:23WJ53LT4:5:2437:27503:7446,LH00995:41:23WJ53LT4:6:1490:24461:14396,LH00995:41:23WJ53LT4:7:1377:2400:25283,LH00995:41:23WJ53LT4:7:1467:47202:29683,LH00995:41:23WJ53LT4:7:1489:35148:1490,LH00995:41:23WJ53LT4:7:2378:43432:22649,LH00995:41:23WJ53LT4:7:2378:43440:22663,LH00995:41:23WJ53LT4:8:1327:32980:3648,LH00995:41:23WJ53LT4:1:2444:10279:7964,LH00995:41:23WJ53LT4:1:2487:35544:4363,LH00995:41:23WJ53LT4:2:1435:3014:5330,LH00995:41:23WJ53LT4:2:2144:3840:9253,LH00995:41:23WJ53LT4:3:1416:41976:11944,LH00995:41:23WJ53LT4:3:2208:14793:14382,LH00995:41:23WJ53LT4:4:1228:42914:9197,LH00995:41:23WJ53LT4:6:2109:15934:5540,LH00995:41:23WJ53LT4:7:1432:33837:24274,LH00995:41:23WJ53LT4:8:1304:48569:25970,LH00995:41:23WJ53LT4:8:1342:47695:10809,LH00995:41:23WJ53LT4:8:1346:41782:2331,LH00995:41:23WJ53LT4:8:1435:42874:23055

STX16

NPEPL1

+/+

chr20:58652087

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1474

127

low

out-of-frame

|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000355957.9

ENST00000525967.5

downstream

upstream

CCCTGAGAGGGGGGTCGCAAAGGGTGAGACATGGCCACCAGGtGTTTAACCGACGCTTTCTTGTTGTTGCGGAATAATTCCATCCAAAACCGGCAGCTGTTAGCCGAGCAA|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGG

MATRcLTDAFLLLRNNSIQNRQLLAEQ|agyeeetqnnrsglwnyme

LH00995:41:23WJ53LT4:4:2340:37648:2233

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

TCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGC

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

LH00995:41:23WJ53LT4:1:2245:7990:21962,LH00995:41:23WJ53LT4:1:2306:15700:16624,LH00995:41:23WJ53LT4:1:2433:46425:27357,LH00995:41:23WJ53LT4:2:2223:7788:1687,LH00995:41:23WJ53LT4:2:2460:36175:11537,LH00995:41:23WJ53LT4:3:1182:20432:8931,LH00995:41:23WJ53LT4:3:1408:36434:21794,LH00995:41:23WJ53LT4:3:2155:50551:8665,LH00995:41:23WJ53LT4:3:2219:42963:28450,LH00995:41:23WJ53LT4:4:2281:41466:15265,LH00995:41:23WJ53LT4:4:2382:11841:27147,LH00995:41:23WJ53LT4:5:1258:12925:15293,LH00995:41:23WJ53LT4:5:1265:11760:21010,LH00995:41:23WJ53LT4:5:1345:45980:24008,LH00995:41:23WJ53LT4:5:2255:22608:8581,LH00995:41:23WJ53LT4:5:2393:6000:16918,LH00995:41:23WJ53LT4:6:2283:47784:6731,LH00995:41:23WJ53LT4:6:2314:49500:15279,LH00995:41:23WJ53LT4:6:2386:49411:6885,LH00995:41:23WJ53LT4:8:1421:16379:4769,LH00995:41:23WJ53LT4:8:2370:1833:4377,LH00995:41:23WJ53LT4:8:2370:1841:4363,LH00995:41:23WJ53LT4:8:2370:1849:4349,LH00995:41:23WJ53LT4:8:2370:1849:4377,LH00995:41:23WJ53LT4:1:1443:28393:15881,LH00995:41:23WJ53LT4:1:1443:28401:15895,LH00995:41:23WJ53LT4:1:2191:39282:27623,LH00995:41:23WJ53LT4:1:2384:5587:10823,LH00995:41:23WJ53LT4:1:2443:38885:14298,LH00995:41:23WJ53LT4:2:1226:23045:23994,LH00995:41:23WJ53LT4:2:1257:47849:25816,LH00995:41:23WJ53LT4:2:1472:17204:6815,LH00995:41:23WJ53LT4:3:1314:11468:15937,LH00995:41:23WJ53LT4:3:1490:44799:3382,LH00995:41:23WJ53LT4:3:2442:25861:10654,LH00995:41:23WJ53LT4:3:2464:28838:16596,LH00995:41:23WJ53LT4:4:1119:50584:14522,LH00995:41:23WJ53LT4:4:1230:32511:1462,LH00995:41:23WJ53LT4:4:2298:11841:27651,LH00995:41:23WJ53LT4:5:2394:26419:29613,LH00995:41:23WJ53LT4:6:1114:40261:15279,LH00995:41:23WJ53LT4:6:1194:15530:21150,LH00995:41:23WJ53LT4:7:2173:51296:10598,LH00995:41:23WJ53LT4:7:2463:44330:16442,LH00995:41:23WJ53LT4:8:1114:35811:22117,LH00995:41:23WJ53LT4:8:2145:48132:29501,LH00995:41:23WJ53LT4:8:2145:48140:29515,LH00995:41:23WJ53LT4:8:2145:48149:29529,LH00995:41:23WJ53LT4:8:2369:10781:9281,LH00995:41:23WJ53LT4:8:2369:19502:10038,LH00995:41:23WJ53LT4:8:2469:6364:26657,LH00995:41:23WJ53LT4:8:2469:6372:26642

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

3496

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(22),mismappers(4)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

TGTGCCTGCCTCGCACTTTGTGGGCGTGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTC

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

LH00995:41:23WJ53LT4:1:1232:47073:13345,LH00995:41:23WJ53LT4:1:1288:43392:24569,LH00995:41:23WJ53LT4:1:1310:3516:21136,LH00995:41:23WJ53LT4:1:1462:12933:22004,LH00995:41:23WJ53LT4:1:2330:30164:18333,LH00995:41:23WJ53LT4:2:2265:5522:29319,LH00995:41:23WJ53LT4:2:2312:47922:29249,LH00995:41:23WJ53LT4:3:1174:44427:28772,LH00995:41:23WJ53LT4:3:1319:40730:22649,LH00995:41:23WJ53LT4:3:2440:44832:18712,LH00995:41:23WJ53LT4:4:1253:25213:29207,LH00995:41:23WJ53LT4:4:1409:25626:3550,LH00995:41:23WJ53LT4:4:2193:7496:8188,LH00995:41:23WJ53LT4:4:2245:37818:16624,LH00995:41:23WJ53LT4:4:2245:37826:16638,LH00995:41:23WJ53LT4:5:2233:24849:4867,LH00995:41:23WJ53LT4:6:1355:48310:13247,LH00995:41:23WJ53LT4:6:2411:20246:6395,LH00995:41:23WJ53LT4:6:2473:13612:13065,LH00995:41:23WJ53LT4:7:1113:24461:25830,LH00995:41:23WJ53LT4:7:1211:30197:22817,LH00995:41:23WJ53LT4:7:2232:36280:10262,LH00995:41:23WJ53LT4:8:1214:12439:16722,LH00995:41:23WJ53LT4:8:1214:12447:16736,LH00995:41:23WJ53LT4:8:1214:12455:16722,LH00995:41:23WJ53LT4:8:1388:22811:15769,LH00995:41:23WJ53LT4:8:2339:11412:25171,LH00995:41:23WJ53LT4:8:2450:52137:12196,LH00995:41:23WJ53LT4:1:1287:30917:13835,LH00995:41:23WJ53LT4:1:1287:30925:13821,LH00995:41:23WJ53LT4:1:1287:30925:13849,LH00995:41:23WJ53LT4:1:1287:30933:13835,LH00995:41:23WJ53LT4:1:1287:30941:13849,LH00995:41:23WJ53LT4:1:1287:30949:13835,LH00995:41:23WJ53LT4:1:1297:17722:3648,LH00995:41:23WJ53LT4:2:1125:25124:9407,LH00995:41:23WJ53LT4:2:1366:29364:19188,LH00995:41:23WJ53LT4:2:1467:14179:7095,LH00995:41:23WJ53LT4:2:1467:14203:7081,LH00995:41:23WJ53LT4:2:2207:19494:20505,LH00995:41:23WJ53LT4:4:1471:4260:13877,LH00995:41:23WJ53LT4:4:1471:4268:13863,LH00995:41:23WJ53LT4:4:2245:30706:15993,LH00995:41:23WJ53LT4:4:2455:48610:29319,LH00995:41:23WJ53LT4:5:1329:22794:24625,LH00995:41:23WJ53LT4:5:2409:24938:17801,LH00995:41:23WJ53LT4:6:1152:19219:4363,LH00995:41:23WJ53LT4:6:2296:48456:3382,LH00995:41:23WJ53LT4:6:2448:27770:19819,LH00995:41:23WJ53LT4:6:2448:27786:19819,LH00995:41:23WJ53LT4:6:2463:41571:12252,LH00995:41:23WJ53LT4:7:2402:50648:17633,LH00995:41:23WJ53LT4:8:1479:8920:10514,LH00995:41:23WJ53LT4:6:2182:11104:10626

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

114

3496

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(23),mismappers(5),mismatches(1)

VPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGS

ZNF814

-/-

chr19:57874502

chr19:57874584

CDS

duplication/ITD

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(27)

GTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT|t|ATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

ECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKH|yECGECGKSFSKYVSFSNHQRVHTEKKH

LH00995:41:23WJ53LT4:1:1287:9139:16862,LH00995:41:23WJ53LT4:1:2159:22544:21136,LH00995:41:23WJ53LT4:1:2482:23474:17506,LH00995:41:23WJ53LT4:1:2482:23474:17506,LH00995:41:23WJ53LT4:3:1190:10902:14003,LH00995:41:23WJ53LT4:3:1190:10902:14003,LH00995:41:23WJ53LT4:3:1410:10392:22369,LH00995:41:23WJ53LT4:3:1410:10392:22369,LH00995:41:23WJ53LT4:3:2417:7181:20869,LH00995:41:23WJ53LT4:3:2417:7181:20869,LH00995:41:23WJ53LT4:5:1408:8427:29417,LH00995:41:23WJ53LT4:6:2143:37041:17072,LH00995:41:23WJ53LT4:6:2393:44824:8525,LH00995:41:23WJ53LT4:6:2393:44840:8525,LH00995:41:23WJ53LT4:7:1267:49063:19931,LH00995:41:23WJ53LT4:7:2284:17900:2639,LH00995:41:23WJ53LT4:7:2284:17900:2639,LH00995:41:23WJ53LT4:8:1307:9786:13807,LH00995:41:23WJ53LT4:8:1307:9786:13807,LH00995:41:23WJ53LT4:1:1287:9139:16862,LH00995:41:23WJ53LT4:1:1287:9139:16862,LH00995:41:23WJ53LT4:1:1287:9139:16862,LH00995:41:23WJ53LT4:2:2392:3556:5148,LH00995:41:23WJ53LT4:5:1408:8427:29417,LH00995:41:23WJ53LT4:6:2143:37041:17072,LH00995:41:23WJ53LT4:6:2143:37049:17058,LH00995:41:23WJ53LT4:7:1267:49063:19931,LH00995:41:23WJ53LT4:7:1267:49063:19931,LH00995:41:23WJ53LT4:7:1267:49063:19931,LH00995:41:23WJ53LT4:2:1177:29533:7432,LH00995:41:23WJ53LT4:2:1177:29542:7446,LH00995:41:23WJ53LT4:2:2232:46959:8104,LH00995:41:23WJ53LT4:5:2389:34048:16484,LH00995:41:23WJ53LT4:7:2284:17900:2639,LH00995:41:23WJ53LT4:2:1177:29533:7432,LH00995:41:23WJ53LT4:2:1177:29533:7432,LH00995:41:23WJ53LT4:2:1177:29542:7446,LH00995:41:23WJ53LT4:2:1177:29542:7446,LH00995:41:23WJ53LT4:2:2182:3192:5834,LH00995:41:23WJ53LT4:2:2392:3556:5148,LH00995:41:23WJ53LT4:3:2435:51676:3830,LH00995:41:23WJ53LT4:5:2142:10789:19412,LH00995:41:23WJ53LT4:5:2389:34048:16484,LH00995:41:23WJ53LT4:5:2389:34048:16484,LH00995:41:23WJ53LT4:8:1349:25278:6927,LH00995:41:23WJ53LT4:2:2182:3192:5834,LH00995:41:23WJ53LT4:2:2392:3556:5148,LH00995:41:23WJ53LT4:2:2392:3556:5148,LH00995:41:23WJ53LT4:3:2435:51676:3830,LH00995:41:23WJ53LT4:6:1392:15716:14466,LH00995:41:23WJ53LT4:8:1349:25278:6927

AC079781.4

ASNS

-/-

chr7:97928082

chr7:97872449

exon

5'UTR

deletion/read-through

174

medium

|Asparagine_synthase(100%),Glutamine_amidotransferase_domain(100%)

ENSG00000284627.1

ENSG00000070669.17

ENST00000641908.1

ENST00000175506.8

upstream

downstream

duplicates(3),mismatches(1)

CCCGAAGAGAAGAGGCTGCGGCTCTTGCTGGAGGGGGGAAGCGCACAGCCCCAGGACTGCGAGGACGGGGAGGACGCGCCGCGGCCGGGCAGGGAGGAGACCGGCACCCAGACAGGTGGCGACGGCAGAGGA|GAGCCAGGTCGGTATAAGCGCCAGCGGCCTCGCCGCCCGTCAAGCTGTCCACATCCCTGGCCTCAGCCCGCCACATCACCCTGACCTGCTTACGCCC

LH00995:41:23WJ53LT4:2:2274:17787:12084,LH00995:41:23WJ53LT4:3:2153:10231:1631,LH00995:41:23WJ53LT4:4:1260:5077:15293,LH00995:41:23WJ53LT4:8:1131:47242:14872,LH00995:41:23WJ53LT4:8:1176:6267:24639,LH00995:41:23WJ53LT4:8:1243:44136:27735,LH00995:41:23WJ53LT4:8:2474:1558:20435,LH00995:41:23WJ53LT4:1:1374:28401:9057,LH00995:41:23WJ53LT4:2:1110:26484:20197,LH00995:41:23WJ53LT4:2:1264:22786:2695,LH00995:41:23WJ53LT4:3:1458:9875:9898,LH00995:41:23WJ53LT4:4:1365:46118:23209,LH00995:41:23WJ53LT4:4:2144:48860:26783,LH00995:41:23WJ53LT4:5:1463:47429:27413,LH00995:41:23WJ53LT4:5:2155:24380:27960,LH00995:41:23WJ53LT4:6:1180:13167:29585,LH00995:41:23WJ53LT4:6:1198:38165:17422,LH00995:41:23WJ53LT4:6:1309:4802:20197,LH00995:41:23WJ53LT4:6:2448:2974:26979

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

334

394

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(5),mismappers(2)

GAAAAATTTAGCTGTGCTTAG___CTATGAAGGAGGAGATTTTGAAAAAGCTGCTGAATTATACAAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGCCTTGTTTTCAATTGGATTCCCCGTTCCCA

KNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQKALFSIGFPVP

LH00995:41:23WJ53LT4:1:1130:13750:4027,LH00995:41:23WJ53LT4:3:1179:30876:13317,LH00995:41:23WJ53LT4:3:2141:4576:27147,LH00995:41:23WJ53LT4:3:2224:26314:5078,LH00995:41:23WJ53LT4:4:2287:7415:19931,LH00995:41:23WJ53LT4:6:1225:29299:8398,LH00995:41:23WJ53LT4:6:1280:30553:23069,LH00995:41:23WJ53LT4:6:1334:43189:1603,LH00995:41:23WJ53LT4:6:1334:43197:1589,LH00995:41:23WJ53LT4:8:2298:8807:5834,LH00995:41:23WJ53LT4:1:1306:40414:23476,LH00995:41:23WJ53LT4:2:1237:6048:25129,LH00995:41:23WJ53LT4:3:1481:47598:15741,LH00995:41:23WJ53LT4:4:1486:18596:12784,LH00995:41:23WJ53LT4:4:1491:33417:20883,LH00995:41:23WJ53LT4:4:1491:33433:20883,LH00995:41:23WJ53LT4:4:2148:16355:20841,LH00995:41:23WJ53LT4:4:2206:51093:23448,LH00995:41:23WJ53LT4:6:2157:11776:7390

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

793

medium

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(4)

CCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGAAAGCAGGAGGGAGCTCAGAGCGTGGAAGAGATGTTTGAAGA

LH00995:41:23WJ53LT4:1:1336:13232:9772,LH00995:41:23WJ53LT4:2:2153:4066:24975,LH00995:41:23WJ53LT4:3:1354:21403:4419,LH00995:41:23WJ53LT4:3:2187:30690:14704,LH00995:41:23WJ53LT4:3:2283:8427:19833,LH00995:41:23WJ53LT4:4:2229:22269:17324,LH00995:41:23WJ53LT4:6:2195:22196:21738,LH00995:41:23WJ53LT4:6:2427:23159:2163,LH00995:41:23WJ53LT4:7:1444:51393:23714,LH00995:41:23WJ53LT4:7:2271:42081:2093,LH00995:41:23WJ53LT4:1:1449:26629:10921,LH00995:41:23WJ53LT4:1:2292:9389:18641,LH00995:41:23WJ53LT4:3:2326:36928:25479,LH00995:41:23WJ53LT4:3:2480:6323:10809,LH00995:41:23WJ53LT4:8:2181:46183:22145,LH00995:41:23WJ53LT4:3:1328:15465:3102

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

283

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(6),mismappers(1)

GTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAAC

LH00995:41:23WJ53LT4:2:1472:9179:27693,LH00995:41:23WJ53LT4:2:2203:7601:1897,LH00995:41:23WJ53LT4:3:2254:20990:25227,LH00995:41:23WJ53LT4:3:2254:20998:25241,LH00995:41:23WJ53LT4:3:2254:21007:25227,LH00995:41:23WJ53LT4:4:1302:13507:7866,LH00995:41:23WJ53LT4:6:1210:11201:25592,LH00995:41:23WJ53LT4:6:1210:11218:25592,LH00995:41:23WJ53LT4:6:2192:35585:19594,LH00995:41:23WJ53LT4:7:2396:50907:20043,LH00995:41:23WJ53LT4:8:2326:43068:2990,LH00995:41:23WJ53LT4:8:2353:45212:18109,LH00995:41:23WJ53LT4:8:2491:1550:28576,LH00995:41:23WJ53LT4:3:1336:9211:10346,LH00995:41:23WJ53LT4:3:1336:9219:10360,LH00995:41:23WJ53LT4:7:2138:16711:29557,LH00995:41:23WJ53LT4:8:2261:3573:21822

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

283

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(2)

CTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAGGcAgAG...___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAA

LH00995:41:23WJ53LT4:1:1389:11533:6521,LH00995:41:23WJ53LT4:2:1350:37947:25704,LH00995:41:23WJ53LT4:2:1381:3136:10276,LH00995:41:23WJ53LT4:4:2157:45713:29067,LH00995:41:23WJ53LT4:4:2255:37518:12686,LH00995:41:23WJ53LT4:4:2364:19607:17478,LH00995:41:23WJ53LT4:5:2449:8103:8595

AC092807.3

DDAH1

-/-

chr1:85488291

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

283

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000488557.6

ENST00000284031.13

upstream

downstream

TTGGACTTTCAGCCTCCAGAACT|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTC

LH00995:41:23WJ53LT4:1:2159:39735:12350

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

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(4)

CGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG

AVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

LH00995:41:23WJ53LT4:1:1166:24129:2387,LH00995:41:23WJ53LT4:1:1279:4365:6185,LH00995:41:23WJ53LT4:1:1279:4374:6199,LH00995:41:23WJ53LT4:1:1316:47728:10977,LH00995:41:23WJ53LT4:2:1434:23393:6913,LH00995:41:23WJ53LT4:3:2480:33392:6100,LH00995:41:23WJ53LT4:1:1492:41636:23209,LH00995:41:23WJ53LT4:2:2336:29461:29585,LH00995:41:23WJ53LT4:2:2382:17552:13471,LH00995:41:23WJ53LT4:3:2205:35245:17156,LH00995:41:23WJ53LT4:5:2307:23644:23714,LH00995:41:23WJ53LT4:6:2470:50414:20029

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

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(4)

AVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

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(4)

AVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

GGCGTTGGCCTTGATCTCAGTGCTCTTCCTCCTCGCGGTGATTCTGGCAATCTCCCTGCGCCTGCGATGCTCCTCCAGACCCGCCACTGAGGGCTACTTTCAGCCTGGTGTCTGCTTCAAGACTGTACCTGGAGTTCTCCCCACCTACAGCGAAAGGACTTTGCCTTATTCCTACAATCCGTGTGCTGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGC

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

LH00995:41:23WJ53LT4:1:1453:2707:22761,LH00995:41:23WJ53LT4:1:2353:43764:21430,LH00995:41:23WJ53LT4:2:1314:30164:10795,LH00995:41:23WJ53LT4:4:2468:27511:14662,LH00995:41:23WJ53LT4:7:2496:2569:17787,LH00995:41:23WJ53LT4:2:2306:42461:12028,LH00995:41:23WJ53LT4:4:1142:50648:13821,LH00995:41:23WJ53LT4:5:1101:21629:27007,LH00995:41:23WJ53LT4:5:1352:30067:21892,LH00995:41:23WJ53LT4:6:1201:37623:3536,LH00995:41:23WJ53LT4:7:1248:36628:14452,LH00995:41:23WJ53LT4:7:2224:6914:1659,LH00995:41:23WJ53LT4:7:2349:43731:24709

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

103

3496

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(5),low_entropy(1)

ALALISVLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PKD1P3

AC138932.3(18801),PDXDC1(2670)

+/+

./-

chr16:14911907

chr16:14971921

exon/splice-site

intergenic

inversion

1982

medium

ENSG00000183458.14

ENST00000534164.6

downstream

duplicates(3)

CGGGCGCGGCTGCGGGCCTTGCGAGCCCCCCTGCCTCTGCGGCCTAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT|ACGAGTCTCACTCTGTTGTCCAGGCTGAAGTGTAACGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCGGAGTAGCTTCGACTGGAGGCGTGCGCCATCGCACACACTGTATTTTTAGTAGAGACAGGGTCTTACCATGTTGGCCAGGCTGGTCTCAAACTCCC

LH00995:41:23WJ53LT4:2:1204:38578:12000,LH00995:41:23WJ53LT4:2:1204:39371:13821,LH00995:41:23WJ53LT4:4:1251:38133:20785,LH00995:41:23WJ53LT4:4:2284:13418:15755,LH00995:41:23WJ53LT4:6:2489:19526:14172,LH00995:41:23WJ53LT4:8:2352:27050:28464,LH00995:41:23WJ53LT4:8:2352:27058:28450,LH00995:41:23WJ53LT4:1:1102:20667:23490,LH00995:41:23WJ53LT4:7:1419:28377:11145,LH00995:41:23WJ53LT4:8:2139:19340:5890

PCDHA7

PCDHAC1

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204963.6

ENSG00000248383.5

ENST00000356878.5

ENST00000253807.3

downstream

upstream

duplicates(1),mismatches(1)

CAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCT...GCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAAT|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAG

SSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

LH00995:41:23WJ53LT4:1:1346:12091:9646,LH00995:41:23WJ53LT4:6:2345:47712:22383,LH00995:41:23WJ53LT4:2:1336:7334:10711,LH00995:41:23WJ53LT4:3:1190:49580:1995,LH00995:41:23WJ53LT4:6:1430:26208:9744,LH00995:41:23WJ53LT4:8:2129:4851:23139,LH00995:41:23WJ53LT4:8:2308:8257:28002

PCDHA7

PCDHAC2

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204963.6

ENSG00000243232.6

ENST00000356878.5

ENST00000289269.7

downstream

upstream

duplicates(1),mismatches(1)

SSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA7

PCDHA13

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204963.6

ENSG00000239389.8

ENST00000356878.5

ENST00000289272.3

downstream

upstream

duplicates(1),mismatches(1)

SSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

5765

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(1),mismatches(1)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGG...___GCCAAAGAAGCCCAGG

LH00995:41:23WJ53LT4:1:2489:27600:16133,LH00995:41:23WJ53LT4:5:1476:15967:21738,LH00995:41:23WJ53LT4:5:2472:9025:11397,LH00995:41:23WJ53LT4:6:2416:8200:21290,LH00995:41:23WJ53LT4:7:2490:20715:10711,LH00995:41:23WJ53LT4:8:1483:22050:27932,LH00995:41:23WJ53LT4:8:2241:8046:25451

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514784

CDS/splice-site

exon/splice-site

inversion

278

335

medium

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000394921.8

downstream

GGACCAGCTGCCCTGTGaCGACCCCATGGCGGGCAGCGGAGGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAG

DQLPCdDPMAGSGGAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tepakaikpidrksvhqicsgpvvlslstavkelvensldagatnidlkl

LH00995:41:23WJ53LT4:3:1235:30868:14844,LH00995:41:23WJ53LT4:3:2135:26985:18796,LH00995:41:23WJ53LT4:4:1161:29226:9421,LH00995:41:23WJ53LT4:8:1329:38966:9225

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514779

CDS/splice-site

exon/splice-site

inversion

278

368

low

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000418756.5

downstream

duplicates(2),mismatches(1)

GCGGAGGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|AACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAGGAC

GGAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tc*

LH00995:41:23WJ53LT4:4:2371:51498:2093,LH00995:41:23WJ53LT4:5:1245:48464:14242,LH00995:41:23WJ53LT4:6:2191:13030:14886,LH00995:41:23WJ53LT4:6:2460:28741:26208,LH00995:41:23WJ53LT4:7:1243:37591:5666

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

111

169

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(2),multimappers(1)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTtCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAA

LH00995:41:23WJ53LT4:6:1388:32786:26937,LH00995:41:23WJ53LT4:2:1241:8685:15068,LH00995:41:23WJ53LT4:3:2346:21427:23882,LH00995:41:23WJ53LT4:6:1240:24550:1967,LH00995:41:23WJ53LT4:6:2321:7877:19468,LH00995:41:23WJ53LT4:8:1370:35334:15208

PCDHA2

PCDHAC1

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204969.7

ENSG00000248383.5

ENST00000520672.2

ENST00000253807.3

downstream

upstream

duplicates(2)

GGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGACCCCCCCAAGACGGACCTCATGGCCTTCAGCCCTAGCTTATCTCAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAATACGTAGGAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCC

SYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:41:23WJ53LT4:1:1209:45357:28674,LH00995:41:23WJ53LT4:7:2161:40601:19314,LH00995:41:23WJ53LT4:7:2161:40609:19300,LH00995:41:23WJ53LT4:8:1150:24744:13541,LH00995:41:23WJ53LT4:7:1406:16500:12630

PCDHA2

PCDHAC2

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204969.7

ENSG00000243232.6

ENST00000520672.2

ENST00000289269.7

downstream

upstream

duplicates(2)

SYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:41:23WJ53LT4:1:1209:45357:28674,LH00995:41:23WJ53LT4:7:2161:40601:19314,LH00995:41:23WJ53LT4:7:2161:40609:19300,LH00995:41:23WJ53LT4:8:1150:24744:13541,LH00995:41:23WJ53LT4:7:1406:16500:12630

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

485

medium

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

GGGGCGGGGAGCTTACCGACCTCCCGCCCCCGCTGCGCGCGTTTCTGGCCCTGCCAGTGTCTCCGCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAG

LH00995:41:23WJ53LT4:1:2241:3095:29375,LH00995:41:23WJ53LT4:2:1436:35649:22481,LH00995:41:23WJ53LT4:8:1412:16233:22145

PCDHA2

PCDHA13

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

275

medium

in-frame

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

ENSG00000204969.7

ENSG00000239389.8

ENST00000520672.2

ENST00000289272.3

downstream

upstream

duplicates(2)

SYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:41:23WJ53LT4:1:1209:45357:28674,LH00995:41:23WJ53LT4:7:2161:40601:19314,LH00995:41:23WJ53LT4:7:2161:40609:19300,LH00995:41:23WJ53LT4:8:1150:24744:13541,LH00995:41:23WJ53LT4:7:1406:16500:12630

TEX15

-/-

chr8:30858668

chr8:30887311

CDS/splice-site

duplication/non-canonical_splicing

135

330

low

out-of-frame

Protein_of_unknown_function_(DUF3715)(100%)|Protein_of_unknown_function_(DUF3715)(100%),Testis_expressed_sequence_15(100%)

ENSG00000133863.9

ENST00000643185.2

ENST00000638951.1

upstream

downstream

duplicates(3)

CCTTTCAAAGCCTGTAGATAAACCTAGGCAATGTCTTCCATATGCTGTAGTAACAGTAAAATTTCTTGGTTCAAAAGTAGATAATGGACGCCTTATGACATCTTTGAGATTCCTCTCAACAGGATTTCCTAAGAGAGCTG|GCCAACAAAATGGAAATGAAAGAAACTGCTAAACAGGATACACTGTGGCAAATGAGCTCAACTAGCAAACCCGTGTTGAATACTCGTGAAGTCAATCCTTTGAAGAAATTCACCATTCCTAAGATCAGGAGGACAGCTGAGAAAG___TTTACTTGTCACCTTGT

LSKPVDKPRQCLPYAVVTVKFLGSKVDNGRLMTSLRFLSTGFPKRA|gqqngnernc*

LH00995:41:23WJ53LT4:1:1250:26370:10725,LH00995:41:23WJ53LT4:3:2114:18515:10122,LH00995:41:23WJ53LT4:4:1405:37502:6549,LH00995:41:23WJ53LT4:7:1124:41094:13779,LH00995:41:23WJ53LT4:8:1148:43222:25788,LH00995:41:23WJ53LT4:8:1148:43230:25774,LH00995:41:23WJ53LT4:8:2309:5627:5008,LH00995:41:23WJ53LT4:1:2319:17940:16105,LH00995:41:23WJ53LT4:2:1106:40900:12182,LH00995:41:23WJ53LT4:2:1222:29558:21150,LH00995:41:23WJ53LT4:2:1315:46077:14172,LH00995:41:23WJ53LT4:2:1318:44880:10725,LH00995:41:23WJ53LT4:2:1318:44888:10739,LH00995:41:23WJ53LT4:2:1369:37996:2527,LH00995:41:23WJ53LT4:2:2293:20651:9477,LH00995:41:23WJ53LT4:3:2393:44848:1476,LH00995:41:23WJ53LT4:4:2108:38837:10935,LH00995:41:23WJ53LT4:4:2169:6517:17815,LH00995:41:23WJ53LT4:6:1138:35795:25115,LH00995:41:23WJ53LT4:6:1460:36847:26600,LH00995:41:23WJ53LT4:6:2356:11549:22999,LH00995:41:23WJ53LT4:6:2482:46118:17857,LH00995:41:23WJ53LT4:7:2212:27317:21416,LH00995:41:23WJ53LT4:7:2351:37793:4643,LH00995:41:23WJ53LT4:8:1490:2214:5708

LRRC37A

+/+

chr17:46332656

chr17:46328392

CDS/splice-site

duplication/non-canonical_splicing

582

1166

low

out-of-frame

LRRC37A/B_like_protein_1_C-terminal_domain(93%),Leucine-rich_repeat-containing_protein_37_family(100%),Leucine_rich_repeat(100%)|LRRC37A/B_like_protein_1_C-terminal_domain(100%)

ENSG00000176681.14

ENST00000496930.5

downstream

upstream

duplicates(8),mismatches(2)

AGTAAAGGCATCCAAGATAGAATGGGATACGGACCAATGGAAGATTGAGAACTACATTAATGAGAGCACAGAAGCCCAGAGTGAACAGAAAGAGAAGTCGCTTGAG___CTCAAAAAAGAAGTTCCAGGATATGGCTATACTGACAAACTCATCTTGGCATTAATTGTTACTGGAATACTAACGATTTTGATTATACTTTTCTGCCTCATTGTG|GATCTTACCTAGCCATATGGCCTGCTGCCTCTGCCAATTTAAAAACAGCATTGAGGCTGTCTGCAAGACAGTCAAGCTGCATTGCAACAGTGCATGTCTGACAAACACCACACATTGTC___CTGAAGAAGCATCGGTAGGGAATCCAGAAGGAGCGTTCATGAAGGTGTTACAAGCCCG

VKASKIEWDTDQWKIENYINESTEAQSEQKEKSLELKKEVPGYGYTDKLILALIVTGILTILIILFCLIV|dlt*

LH00995:41:23WJ53LT4:1:1427:3589:21150,LH00995:41:23WJ53LT4:1:2108:40973:21892,LH00995:41:23WJ53LT4:1:2323:1000:10024,LH00995:41:23WJ53LT4:2:2213:26993:9253,LH00995:41:23WJ53LT4:2:2383:39816:4559,LH00995:41:23WJ53LT4:2:2383:39824:4545,LH00995:41:23WJ53LT4:3:1144:16703:19062,LH00995:41:23WJ53LT4:3:1210:29679:1995,LH00995:41:23WJ53LT4:3:1494:51862:14718,LH00995:41:23WJ53LT4:4:1423:47348:3172,LH00995:41:23WJ53LT4:6:1470:50964:6605,LH00995:41:23WJ53LT4:6:1470:50972:6619,LH00995:41:23WJ53LT4:6:1470:50980:6605,LH00995:41:23WJ53LT4:7:2204:9689:4587,LH00995:41:23WJ53LT4:8:1123:15594:9127,LH00995:41:23WJ53LT4:8:1123:15602:9113,LH00995:41:23WJ53LT4:1:1313:25529:11481,LH00995:41:23WJ53LT4:2:2232:2772:21864,LH00995:41:23WJ53LT4:2:2232:2780:21878,LH00995:41:23WJ53LT4:3:1235:40665:8609,LH00995:41:23WJ53LT4:3:1235:40673:8623,LH00995:41:23WJ53LT4:3:2384:19777:5526,LH00995:41:23WJ53LT4:4:1272:42510:4489,LH00995:41:23WJ53LT4:5:1464:29590:25241,LH00995:41:23WJ53LT4:5:1464:29598:25227,LH00995:41:23WJ53LT4:5:1464:29598:25255,LH00995:41:23WJ53LT4:7:2143:46207:2990,LH00995:41:23WJ53LT4:8:1497:51126:9071,LH00995:41:23WJ53LT4:8:2358:41345:19482

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

1344

882

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(1),mismatches(1)

CCTAAGCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

LSNPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:41:23WJ53LT4:1:2450:24243:2752,LH00995:41:23WJ53LT4:2:1125:20295:27357,LH00995:41:23WJ53LT4:3:1265:51312:19314,LH00995:41:23WJ53LT4:3:2224:19324:14130,LH00995:41:23WJ53LT4:3:2292:3273:26881,LH00995:41:23WJ53LT4:4:1348:50325:16624,LH00995:41:23WJ53LT4:4:2403:36790:18796,LH00995:41:23WJ53LT4:4:2494:39484:26124,LH00995:41:23WJ53LT4:5:2121:33684:21066,LH00995:41:23WJ53LT4:5:2433:11104:6283,LH00995:41:23WJ53LT4:6:1478:16549:29025,LH00995:41:23WJ53LT4:6:2426:21678:23252,LH00995:41:23WJ53LT4:7:1494:11574:14830

SFT2D3

+/+

chr2:127701618

chr2:127701601

CDS

duplication/ITD

low

in-frame

|Got1/Sft2-like_family_(100%)

ENSG00000173349.6

ENST00000310981.6

downstream

upstream

duplicates(14)

CGCCTTGTCCAAGATGGCGGACCTCCACCGCCAGCTGCAGGAGTACCTGGCGCAGGGGAAAGCTGGCGGCCCGGCGGCCGCGGAGCCGCTGCTCGCCGCGGAG|CCGCTGCTCGCCGCGGAGAAGGCGGAGGAGCCCGG

MADLHRQLQEYLAQGKAGGPAAAEPLLAAE|PLLAAEKAEEP

LH00995:41:23WJ53LT4:2:1386:37947:16596,LH00995:41:23WJ53LT4:2:1386:37947:16596,LH00995:41:23WJ53LT4:2:2445:19712:6199,LH00995:41:23WJ53LT4:2:2445:19712:6199,LH00995:41:23WJ53LT4:3:1191:24332:10753,LH00995:41:23WJ53LT4:3:1191:24332:10753,LH00995:41:23WJ53LT4:3:2419:16517:17310,LH00995:41:23WJ53LT4:3:2419:16517:17310,LH00995:41:23WJ53LT4:4:2147:40148:18025,LH00995:41:23WJ53LT4:4:2147:40148:18025,LH00995:41:23WJ53LT4:4:2452:11468:4419,LH00995:41:23WJ53LT4:4:2452:11468:4419,LH00995:41:23WJ53LT4:6:1358:18685:5708,LH00995:41:23WJ53LT4:6:1358:18685:5708,LH00995:41:23WJ53LT4:6:2401:19469:7628,LH00995:41:23WJ53LT4:6:2401:19469:7628,LH00995:41:23WJ53LT4:6:2411:27050:3046,LH00995:41:23WJ53LT4:6:2411:27050:3046,LH00995:41:23WJ53LT4:7:2398:29509:6213,LH00995:41:23WJ53LT4:7:2398:29509:6213,LH00995:41:23WJ53LT4:8:1378:26815:21192,LH00995:41:23WJ53LT4:8:1378:26815:21192,LH00995:41:23WJ53LT4:8:2436:12601:2990,LH00995:41:23WJ53LT4:8:2436:12601:2990

ZFP36

FP236383.3

+/+

chr19:39408342

chr21:8399952

CDS

intron

translocation

22744

882

low

out-of-frame

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

ENSG00000128016.7

ENSG00000280441.3

ENST00000594442.2

downstream

upstream

duplicates(4),mismatches(8)

GGCCGCTGCCCCTACGGCTCTCGCTGCCACTTCATCCACAACCCTAGCGAAGACCTGGCGGCCCCGGGCCACCCTCCTGTGCTTCGCCAGAGCATCAGCTTCTCCGGCCTGCCCTCTGGCCGCCGGACCTCACCACCACCACCAGGCCTGGCCGGCCCTTCCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCC

GRCPYGSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPSL|pralslsls

LH00995:41:23WJ53LT4:1:1498:24372:7992,LH00995:41:23WJ53LT4:1:2126:12116:23111,LH00995:41:23WJ53LT4:1:2295:50883:13471,LH00995:41:23WJ53LT4:1:2393:1744:16862,LH00995:41:23WJ53LT4:2:1488:19049:2583,LH00995:41:23WJ53LT4:2:1488:19057:2569,LH00995:41:23WJ53LT4:2:1493:43052:29305,LH00995:41:23WJ53LT4:4:1452:15246:14858,LH00995:41:23WJ53LT4:4:2140:51029:1364,LH00995:41:23WJ53LT4:4:2140:51037:1350,LH00995:41:23WJ53LT4:4:2242:43845:28408,LH00995:41:23WJ53LT4:5:1172:10595:11369,LH00995:41:23WJ53LT4:5:1348:29129:2639,LH00995:41:23WJ53LT4:6:1270:29242:8216,LH00995:41:23WJ53LT4:6:2281:14470:25648,LH00995:41:23WJ53LT4:7:2102:33676:13149,LH00995:41:23WJ53LT4:8:1488:25076:26895,LH00995:41:23WJ53LT4:8:2137:41499:27231,LH00995:41:23WJ53LT4:8:2325:18863:2878

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

790

852

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(2),mismatches(1)

TGGAAAAGTCAG___GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAGGGCCAGAAGGATG

EKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQKD

LH00995:41:23WJ53LT4:3:2166:14405:1855,LH00995:41:23WJ53LT4:3:2286:42494:14662,LH00995:41:23WJ53LT4:3:2286:42510:14662,LH00995:41:23WJ53LT4:6:1343:47129:22719,LH00995:41:23WJ53LT4:6:2108:36604:20939,LH00995:41:23WJ53LT4:8:2185:33748:26811,LH00995:41:23WJ53LT4:1:2426:18766:25465,LH00995:41:23WJ53LT4:3:1103:17204:7824,LH00995:41:23WJ53LT4:6:1266:50640:23195,LH00995:41:23WJ53LT4:7:1345:51587:14045,LH00995:41:23WJ53LT4:7:1348:20950:10052

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

1413

1273

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(1)

GGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCT

GNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:41:23WJ53LT4:4:1346:38974:14816,LH00995:41:23WJ53LT4:5:2130:4236:26054,LH00995:41:23WJ53LT4:1:1324:33481:4153,LH00995:41:23WJ53LT4:1:1477:49678:24919,LH00995:41:23WJ53LT4:1:2164:43748:8623,LH00995:41:23WJ53LT4:1:2164:43756:8637,LH00995:41:23WJ53LT4:1:2437:16767:12364,LH00995:41:23WJ53LT4:8:1148:5199:26180,LH00995:41:23WJ53LT4:8:1397:10910:14101

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

1413

631

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(1)

GGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTGGAGTCtAGGAAAAGCAGAAGATGCTGAGATGTCATATATGGC

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKGHTYIFKNCNLILESRKSRRC*

LH00995:41:23WJ53LT4:2:1118:17892:13275,LH00995:41:23WJ53LT4:2:2477:1267:29375

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

1413

986

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

GGCGGATACGACTCCGGAGGAGCTGGCAGCCCTCTTTGCGCCCTACGGCACGGTCATGAGCTGCGCCGTCATGAAACAGTTCGCCTTCGTGCACATGCGCGAGAACGCGGGCGCGCTGCGCGCCATCGAAGCCCTGCACGGCCACGAGCTG...AGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCC

RPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTS

LH00995:41:23WJ53LT4:5:1320:4414:13471

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1413

1653

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(88),read_through(201)

TGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGC

SRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

LH00995:41:23WJ53LT4:1:1126:7868:8497,LH00995:41:23WJ53LT4:1:1165:20861:2051,LH00995:41:23WJ53LT4:1:1186:18887:7320,LH00995:41:23WJ53LT4:1:1209:20732:27329,LH00995:41:23WJ53LT4:1:1242:2375:10136,LH00995:41:23WJ53LT4:1:2143:33797:9211,LH00995:41:23WJ53LT4:1:2272:30577:17422,LH00995:41:23WJ53LT4:1:2332:11072:8749,LH00995:41:23WJ53LT4:1:2349:17463:3452,LH00995:41:23WJ53LT4:1:2397:49945:29641,LH00995:41:23WJ53LT4:1:2445:21201:15503,LH00995:41:23WJ53LT4:1:2459:6453:21262,LH00995:41:23WJ53LT4:2:1179:47323:7362,LH00995:41:23WJ53LT4:2:1191:38829:12882,LH00995:41:23WJ53LT4:2:1311:15465:17394,LH00995:41:23WJ53LT4:2:1409:22414:22677,LH00995:41:23WJ53LT4:2:1469:3249:27399,LH00995:41:23WJ53LT4:2:1475:32454:14284,LH00995:41:23WJ53LT4:2:1483:48407:26054,LH00995:41:23WJ53LT4:2:2151:2149:25325,LH00995:41:23WJ53LT4:2:2183:36572:9253,LH00995:41:23WJ53LT4:2:2202:14802:8651,LH00995:41:23WJ53LT4:2:2290:34420:11467,LH00995:41:23WJ53LT4:2:2350:16153:17380,LH00995:41:23WJ53LT4:2:2357:2658:4965,LH00995:41:23WJ53LT4:2:2391:48286:23882,LH00995:41:23WJ53LT4:2:2443:1024:21304,LH00995:41:23WJ53LT4:3:1116:49467:21304,LH00995:41:23WJ53LT4:3:1122:20554:9814,LH00995:41:23WJ53LT4:3:1177:13515:26376,LH00995:41:23WJ53LT4:3:1227:39047:23322,LH00995:41:23WJ53LT4:3:1297:21338:10444,LH00995:41:23WJ53LT4:3:1320:20537:3004,LH00995:41:23WJ53LT4:3:1350:13887:17997,LH00995:41:23WJ53LT4:3:1369:18580:3985,LH00995:41:23WJ53LT4:3:2151:1170:20463,LH00995:41:23WJ53LT4:3:2151:1178:20477,LH00995:41:23WJ53LT4:3:2227:24534:29459,LH00995:41:23WJ53LT4:3:2270:1413:10682,LH00995:41:23WJ53LT4:3:2333:13192:14466,LH00995:41:23WJ53LT4:3:2362:22163:10865,LH00995:41:23WJ53LT4:3:2401:17811:14844,LH00995:41:23WJ53LT4:3:2409:17673:21584,LH00995:41:23WJ53LT4:3:2427:30990:26320,LH00995:41:23WJ53LT4:4:1110:32907:22551,LH00995:41:23WJ53LT4:4:1228:43238:1659,LH00995:41:23WJ53LT4:4:1280:14292:23462,LH00995:41:23WJ53LT4:4:1361:41757:13471,LH00995:41:23WJ53LT4:4:1363:43133:1673,LH00995:41:23WJ53LT4:4:1385:51093:3046,LH00995:41:23WJ53LT4:4:1385:51101:3060,LH00995:41:23WJ53LT4:4:1385:51109:3046,LH00995:41:23WJ53LT4:4:1385:51109:3074,LH00995:41:23WJ53LT4:4:1385:51118:3060,LH00995:41:23WJ53LT4:4:1388:27859:15825,LH00995:41:23WJ53LT4:4:1395:50673:20001,LH00995:41:23WJ53LT4:4:1411:26613:25914,LH00995:41:23WJ53LT4:4:2127:37017:17843,LH00995:41:23WJ53LT4:4:2176:50300:21234,LH00995:41:23WJ53LT4:4:2281:51846:9505,LH00995:41:23WJ53LT4:4:2436:35496:11033,LH00995:41:23WJ53LT4:4:2436:35504:11019,LH00995:41:23WJ53LT4:5:1220:39953:4545,LH00995:41:23WJ53LT4:5:1314:34671:9996,LH00995:41:23WJ53LT4:5:1331:23328:8006,LH00995:41:23WJ53LT4:5:1420:11614:1897,LH00995:41:23WJ53LT4:5:1426:8491:16273,LH00995:41:23WJ53LT4:5:1482:3233:4447,LH00995:41:23WJ53LT4:5:2131:13855:1827,LH00995:41:23WJ53LT4:5:2218:16064:14031,LH00995:41:23WJ53LT4:5:2303:2958:15180,LH00995:41:23WJ53LT4:5:2336:9867:24849,LH00995:41:23WJ53LT4:5:2421:42291:28632,LH00995:41:23WJ53LT4:5:2430:12536:8875,LH00995:41:23WJ53LT4:5:2457:23749:20449,LH00995:41:23WJ53LT4:6:1102:22835:22285,LH00995:41:23WJ53LT4:6:1109:13637:26474,LH00995:41:23WJ53LT4:6:1131:48860:9604,LH00995:41:23WJ53LT4:6:1157:1267:15503,LH00995:41:23WJ53LT4:6:1247:6153:9870,LH00995:41:23WJ53LT4:6:1277:21346:16848,LH00995:41:23WJ53LT4:6:1277:21354:16862,LH00995:41:23WJ53LT4:6:1284:17576:20743,LH00995:41:23WJ53LT4:6:1363:10619:25620,LH00995:41:23WJ53LT4:6:1443:16452:12182,LH00995:41:23WJ53LT4:6:1492:30893:17633,LH00995:41:23WJ53LT4:6:2127:27818:27946,LH00995:41:23WJ53LT4:6:2185:34485:1434,LH00995:41:23WJ53LT4:6:2281:4309:19903,LH00995:41:23WJ53LT4:6:2289:10781:15839,LH00995:41:23WJ53LT4:6:2293:7100:29669,LH00995:41:23WJ53LT4:6:2305:25213:5890,LH00995:41:23WJ53LT4:6:2368:8734:4307,LH00995:41:23WJ53LT4:6:2436:26354:15713,LH00995:41:23WJ53LT4:6:2447:35973:24274,LH00995:41:23WJ53LT4:7:1148:17520:16077,LH00995:41:23WJ53LT4:7:1161:34347:20729,LH00995:41:23WJ53LT4:7:1179:45576:6269,LH00995:41:23WJ53LT4:7:1227:46636:15419,LH00995:41:23WJ53LT4:7:1346:38085:23223,LH00995:41:23WJ53LT4:7:1386:11153:9449,LH00995:41:23WJ53LT4:7:1413:28652:12042,LH00995:41:23WJ53LT4:7:1475:11015:20617,LH00995:41:23WJ53LT4:7:1496:36645:19804,LH00995:41:23WJ53LT4:7:2126:10206:21458,LH00995:41:23WJ53LT4:7:2207:37809:12098,LH00995:41:23WJ53LT4:7:2287:28021:6773,LH00995:41:23WJ53LT4:7:2481:4285:18571,LH00995:41:23WJ53LT4:8:1170:27980:15587,LH00995:41:23WJ53LT4:8:1170:27988:15601,LH00995:41:23WJ53LT4:8:1192:17552:17366,LH00995:41:23WJ53LT4:8:1306:4333:21486,LH00995:41:23WJ53LT4:8:1316:25213:12896,LH00995:41:23WJ53LT4:8:1367:4293:22985,LH00995:41:23WJ53LT4:8:1378:42704:6367,LH00995:41:23WJ53LT4:8:1392:51829:22649,LH00995:41:23WJ53LT4:8:1410:8079:19314,LH00995:41:23WJ53LT4:8:1413:16589:16960,LH00995:41:23WJ53LT4:8:1458:32624:14578,LH00995:41:23WJ53LT4:8:1462:48035:4783,LH00995:41:23WJ53LT4:8:1494:40148:23097,LH00995:41:23WJ53LT4:8:2142:2610:25479,LH00995:41:23WJ53LT4:8:2150:44281:17927,LH00995:41:23WJ53LT4:8:2195:9430:15657,LH00995:41:23WJ53LT4:8:2281:15821:6717,LH00995:41:23WJ53LT4:8:2324:37421:1448,LH00995:41:23WJ53LT4:8:2329:6946:11972,LH00995:41:23WJ53LT4:8:2442:32413:1771,LH00995:41:23WJ53LT4:1:1225:48691:20351,LH00995:41:23WJ53LT4:1:1239:2003:3774,LH00995:41:23WJ53LT4:1:1294:45285:9463,LH00995:41:23WJ53LT4:1:1347:29946:9772,LH00995:41:23WJ53LT4:1:1398:37696:18067,LH00995:41:23WJ53LT4:1:1404:14907:14690,LH00995:41:23WJ53LT4:1:1410:39889:10122,LH00995:41:23WJ53LT4:1:1410:39897:10136,LH00995:41:23WJ53LT4:1:1459:10417:3074,LH00995:41:23WJ53LT4:1:1484:29736:10556,LH00995:41:23WJ53LT4:1:2110:32462:14326,LH00995:41:23WJ53LT4:1:2131:22374:25662,LH00995:41:23WJ53LT4:1:2207:41143:5512,LH00995:41:23WJ53LT4:1:2216:44621:2093,LH00995:41:23WJ53LT4:1:2248:21379:25844,LH00995:41:23WJ53LT4:1:2267:18224:28170,LH00995:41:23WJ53LT4:1:2272:13701:1392,LH00995:41:23WJ53LT4:1:2272:13709:1406,LH00995:41:23WJ53LT4:1:2363:33044:3648,LH00995:41:23WJ53LT4:1:2363:33061:3648,LH00995:41:23WJ53LT4:1:2369:25367:24849,LH00995:41:23WJ53LT4:1:2369:25375:24863,LH00995:41:23WJ53LT4:1:2377:2545:5162,LH00995:41:23WJ53LT4:1:2377:2561:5162,LH00995:41:23WJ53LT4:1:2474:22204:29683,LH00995:41:23WJ53LT4:1:2474:22220:29683,LH00995:41:23WJ53LT4:2:1135:3686:15321,LH00995:41:23WJ53LT4:2:1166:38125:11579,LH00995:41:23WJ53LT4:2:1173:21824:9632,LH00995:41:23WJ53LT4:2:1179:2812:18964,LH00995:41:23WJ53LT4:2:1233:13847:24541,LH00995:41:23WJ53LT4:2:1313:26572:7824,LH00995:41:23WJ53LT4:2:1313:42777:10304,LH00995:41:23WJ53LT4:2:2218:40099:7992,LH00995:41:23WJ53LT4:2:2329:17973:26783,LH00995:41:23WJ53LT4:2:2353:23984:15026,LH00995:41:23WJ53LT4:2:2361:41207:12882,LH00995:41:23WJ53LT4:2:2412:44387:28170,LH00995:41:23WJ53LT4:2:2422:14057:14087,LH00995:41:23WJ53LT4:2:2491:50996:17170,LH00995:41:23WJ53LT4:3:1218:39371:18221,LH00995:41:23WJ53LT4:3:1288:6898:8188,LH00995:41:23WJ53LT4:3:1309:12350:12616,LH00995:41:23WJ53LT4:3:1401:38586:7474,LH00995:41:23WJ53LT4:3:1411:37219:12000,LH00995:41:23WJ53LT4:3:2111:36183:21388,LH00995:41:23WJ53LT4:3:2161:23086:21570,LH00995:41:23WJ53LT4:3:2177:36645:22271,LH00995:41:23WJ53LT4:3:2279:32365:5526,LH00995:41:23WJ53LT4:3:2309:12642:19482,LH00995:41:23WJ53LT4:3:2319:42146:21178,LH00995:41:23WJ53LT4:3:2319:42162:21178,LH00995:41:23WJ53LT4:3:2325:45228:17324,LH00995:41:23WJ53LT4:3:2326:26103:3088,LH00995:41:23WJ53LT4:3:2414:48254:7908,LH00995:41:23WJ53LT4:3:2468:45722:5680,LH00995:41:23WJ53LT4:3:2490:13839:11860,LH00995:41:23WJ53LT4:4:1193:21063:24036,LH00995:41:23WJ53LT4:4:1193:21071:24050,LH00995:41:23WJ53LT4:4:1193:21079:24036,LH00995:41:23WJ53LT4:4:1193:21087:24050,LH00995:41:23WJ53LT4:4:1211:36272:23560,LH00995:41:23WJ53LT4:4:1242:47987:5176,LH00995:41:23WJ53LT4:4:1257:24186:25101,LH00995:41:23WJ53LT4:4:1257:24194:25087,LH00995:41:23WJ53LT4:4:1387:21516:29361,LH00995:41:23WJ53LT4:4:1430:4179:18193,LH00995:41:23WJ53LT4:4:1430:4187:18207,LH00995:41:23WJ53LT4:4:1430:4196:18221,LH00995:41:23WJ53LT4:4:1443:48755:18726,LH00995:41:23WJ53LT4:4:1486:18054:3634,LH00995:41:23WJ53LT4:4:1490:50810:10682,LH00995:41:23WJ53LT4:4:2145:29145:10346,LH00995:41:23WJ53LT4:4:2154:46862:11775,LH00995:41:23WJ53LT4:4:2158:16088:13569,LH00995:41:23WJ53LT4:4:2181:22851:18978,LH00995:41:23WJ53LT4:4:2203:4066:13037,LH00995:41:23WJ53LT4:4:2203:49791:23294,LH00995:41:23WJ53LT4:4:2315:41345:24443,LH00995:41:23WJ53LT4:4:2355:51538:11944,LH00995:41:23WJ53LT4:4:2379:22269:23097,LH00995:41:23WJ53LT4:4:2466:5102:3536,LH00995:41:23WJ53LT4:4:2466:5110:3522,LH00995:41:23WJ53LT4:4:2474:25092:7053,LH00995:41:23WJ53LT4:4:2474:25100:7067,LH00995:41:23WJ53LT4:5:1127:51158:8875,LH00995:41:23WJ53LT4:5:1128:30504:16848,LH00995:41:23WJ53LT4:5:1201:33684:17871,LH00995:41:23WJ53LT4:5:1257:40908:14466,LH00995:41:23WJ53LT4:5:1263:25035:11860,LH00995:41:23WJ53LT4:5:1278:9284:17591,LH00995:41:23WJ53LT4:5:1279:25189:28156,LH00995:41:23WJ53LT4:5:1288:9268:3522,LH00995:41:23WJ53LT4:5:1291:22657:10907,LH00995:41:23WJ53LT4:5:1303:21751:5190,LH00995:41:23WJ53LT4:5:1412:32066:29529,LH00995:41:23WJ53LT4:5:1421:2707:3732,LH00995:41:23WJ53LT4:5:1439:43424:13779,LH00995:41:23WJ53LT4:5:2109:40503:6058,LH00995:41:23WJ53LT4:5:2221:48229:20589,LH00995:41:23WJ53LT4:5:2224:12997:17240,LH00995:41:23WJ53LT4:5:2338:37017:12798,LH00995:41:23WJ53LT4:5:2356:13815:14452,LH00995:41:23WJ53LT4:5:2411:29938:9449,LH00995:41:23WJ53LT4:5:2411:29954:9449,LH00995:41:23WJ53LT4:5:2465:19348:9547,LH00995:41:23WJ53LT4:5:2465:19364:9547,LH00995:41:23WJ53LT4:5:2483:1866:17661,LH00995:41:23WJ53LT4:6:1108:9867:29221,LH00995:41:23WJ53LT4:6:1135:47849:1967,LH00995:41:23WJ53LT4:6:1169:3071:24793,LH00995:41:23WJ53LT4:6:1268:11088:3312,LH00995:41:23WJ53LT4:6:1380:21678:15265,LH00995:41:23WJ53LT4:6:1397:34428:13163,LH00995:41:23WJ53LT4:6:1428:2804:11719,LH00995:41:23WJ53LT4:6:1441:49386:11103,LH00995:41:23WJ53LT4:6:2182:42542:17520,LH00995:41:23WJ53LT4:6:2182:42550:17506,LH00995:41:23WJ53LT4:6:2197:15246:7067,LH00995:41:23WJ53LT4:6:2295:51304:17142,LH00995:41:23WJ53LT4:6:2340:24040:25858,LH00995:41:23WJ53LT4:6:2455:34889:10150,LH00995:41:23WJ53LT4:6:2461:48302:15054,LH00995:41:23WJ53LT4:6:2461:48310:15040,LH00995:41:23WJ53LT4:7:1133:6873:2289,LH00995:41:23WJ53LT4:7:1167:3435:15727,LH00995:41:23WJ53LT4:7:1170:26775:12406,LH00995:41:23WJ53LT4:7:1254:43618:7278,LH00995:41:23WJ53LT4:7:1254:43626:7292,LH00995:41:23WJ53LT4:7:1293:50940:1687,LH00995:41:23WJ53LT4:7:1327:2084:2093,LH00995:41:23WJ53LT4:7:1370:12019:19748,LH00995:41:23WJ53LT4:7:1390:37267:13317,LH00995:41:23WJ53LT4:7:1427:49435:23742,LH00995:41:23WJ53LT4:7:2235:50656:23644,LH00995:41:23WJ53LT4:7:2235:50665:23658,LH00995:41:23WJ53LT4:7:2260:25076:15965,LH00995:41:23WJ53LT4:7:2304:39306:10570,LH00995:41:23WJ53LT4:7:2387:25763:20968,LH00995:41:23WJ53LT4:7:2393:4446:3606,LH00995:41:23WJ53LT4:7:2427:41539:5106,LH00995:41:23WJ53LT4:7:2448:25974:18698,LH00995:41:23WJ53LT4:7:2448:49556:28044,LH00995:41:23WJ53LT4:8:1137:27519:5792,LH00995:41:23WJ53LT4:8:1137:27527:5778,LH00995:41:23WJ53LT4:8:1294:32373:12070,LH00995:41:23WJ53LT4:8:1323:42728:15601,LH00995:41:23WJ53LT4:8:1361:10328:2499,LH00995:41:23WJ53LT4:8:1373:11379:4181,LH00995:41:23WJ53LT4:8:1482:52105:1631,LH00995:41:23WJ53LT4:8:2149:25456:15755,LH00995:41:23WJ53LT4:8:2159:4721:26642,LH00995:41:23WJ53LT4:8:2211:42000:1645,LH00995:41:23WJ53LT4:8:2231:2408:12238,LH00995:41:23WJ53LT4:8:2235:12585:2569,LH00995:41:23WJ53LT4:8:2257:25553:1350,LH00995:41:23WJ53LT4:8:2257:25561:1336,LH00995:41:23WJ53LT4:8:2295:28546:12224,LH00995:41:23WJ53LT4:8:2412:31815:21220,LH00995:41:23WJ53LT4:8:2413:6299:4517,LH00995:41:23WJ53LT4:8:2441:30666:25900

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

1653

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

read_through(1)

GGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAG

LH00995:41:23WJ53LT4:5:2118:34768:12966

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

376

low

in-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(1)

GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___GGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGTACCAGCAGGTGTGAC

LDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTghfklqcklyfswlshsctsrc

LH00995:41:23WJ53LT4:4:1422:26022:9001,LH00995:41:23WJ53LT4:7:1371:34218:20421,LH00995:41:23WJ53LT4:6:2496:15845:7404,LH00995:41:23WJ53LT4:6:2496:15853:7418,LH00995:41:23WJ53LT4:7:1133:46312:4573,LH00995:41:23WJ53LT4:7:1397:44872:5414,LH00995:41:23WJ53LT4:8:1214:22600:14144

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

376

low

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000444932.1

ENST00000403751.8

downstream

upstream

duplicates(5),low_entropy(3)

GAACCGCCGAGCATGTCTGGGGAGTTTACAtGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA___TTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTC

LH00995:41:23WJ53LT4:2:1306:19211:20996,LH00995:41:23WJ53LT4:3:2440:14648:14017,LH00995:41:23WJ53LT4:6:1283:33044:26628,LH00995:41:23WJ53LT4:8:2216:6202:25451,LH00995:41:23WJ53LT4:5:2209:18596:28086,LH00995:41:23WJ53LT4:5:2209:18612:28086,LH00995:41:23WJ53LT4:7:1213:36531:26811,LH00995:41:23WJ53LT4:7:1213:36539:26797,LH00995:41:23WJ53LT4:7:1213:36556:26797,LH00995:41:23WJ53LT4:7:1213:36564:26811,LH00995:41:23WJ53LT4:8:1313:50098:16035,LH00995:41:23WJ53LT4:8:1313:50106:16021

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

253

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(2)

CTCCAGAGGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAtGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCG

LQRQKSLKAKMNRRACLGSLhELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:41:23WJ53LT4:1:2183:49896:13359,LH00995:41:23WJ53LT4:1:2183:49912:13359,LH00995:41:23WJ53LT4:1:2183:49920:13373,LH00995:41:23WJ53LT4:5:2433:22495:15222

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

low

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(5),mismappers(1),mismatches(1)

GGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACC

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSW

LH00995:41:23WJ53LT4:2:1277:47081:17086,LH00995:41:23WJ53LT4:8:1161:34177:22509,LH00995:41:23WJ53LT4:1:1474:39209:23462,LH00995:41:23WJ53LT4:1:1474:46013:15517,LH00995:41:23WJ53LT4:2:1357:25383:26110,LH00995:41:23WJ53LT4:2:1357:25391:26124,LH00995:41:23WJ53LT4:4:1198:11590:22845,LH00995:41:23WJ53LT4:4:2239:29137:1280,LH00995:41:23WJ53LT4:4:2383:6930:17829,LH00995:41:23WJ53LT4:7:1144:3783:16862,LH00995:41:23WJ53LT4:7:1144:3791:16876,LH00995:41:23WJ53LT4:7:1424:51991:11944

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

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

GCGATTTTTGCTCTTGAGCATTGGGCCCGTACCCAGCCTGG___GTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGA

LH00995:41:23WJ53LT4:2:2352:28991:8651,LH00995:41:23WJ53LT4:2:2393:50236:3046,LH00995:41:23WJ53LT4:3:1279:36014:5400,LH00995:41:23WJ53LT4:7:2443:30965:17394,LH00995:41:23WJ53LT4:1:2197:23968:29179

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

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

duplicates(1)

GGTGCATCCAGCTATAcGTCAGAATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCC

LH00995:41:23WJ53LT4:6:1263:8394:13163,LH00995:41:23WJ53LT4:6:1263:8402:13149,LH00995:41:23WJ53LT4:1:2197:23968:29179

CRYZL2P

SEC16B

-/-

chr1:178034705

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

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

GCCCCATCTTCCCTTCACACCTG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGaAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGC

LH00995:41:23WJ53LT4:4:2278:47979:3901

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

low

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(5),mismappers(1),mismatches(1)

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSW

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

427

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

duplicates(1)

CGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG___GCACTGGAATTATTGATGCCACCTGTTACAGACAATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGCTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGC

RAACHLKLKNLHKAIEDSSKALELLMPPVTDNANARMKAHVRRGTAFCQLELYVE|dlkdv*

LH00995:41:23WJ53LT4:1:1232:44759:4321,LH00995:41:23WJ53LT4:3:1210:24057:4783,LH00995:41:23WJ53LT4:4:1156:10182:5722,LH00995:41:23WJ53LT4:5:1358:50155:21458,LH00995:41:23WJ53LT4:3:1140:33239:28422,LH00995:41:23WJ53LT4:6:2455:12108:28786

DNAAF4

CCPG1

-/-

chr15:55434905

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

427

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

GGCAGCTATCAATGCATATAATTTAGCCATAAGACTAAATAATAAGATGCCACTATTGTATTTGAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG|ACCTGAAAGATGTCTGAAAATTCC...ATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGCTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGCACAGTGC

AAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSK|t*

LH00995:41:23WJ53LT4:3:1368:36636:3200

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

275

low

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(5),mismappers(1),mismatches(1)

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSW

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

low

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

GTTAAAAACAATAGTTCTTATTCCTT___GTATTGGAGTACTGGAGCAGAACAgTTTTTCCCTGAATAGAAGAATGCAGAAAG___CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGGagATG...___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAGTGATTTTTCAAC

LH00995:41:23WJ53LT4:1:2179:50576:5988,LH00995:41:23WJ53LT4:3:1172:44419:1715,LH00995:41:23WJ53LT4:1:1317:16153:15951,LH00995:41:23WJ53LT4:5:1338:50244:10010,LH00995:41:23WJ53LT4:7:1340:46506:5778

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

238

264

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

GCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGACCTTGGCATGGCAGTGGTG___GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGtTCACTTTGCAAACACGGCCAGGAAG___CAGACCTGCTTGGACTGTAAGAAAAATT

QLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapslpqqawnqaaspvgftlqtrpgsrpawtvrk

LH00995:41:23WJ53LT4:3:1279:15311:2415,LH00995:41:23WJ53LT4:3:2162:20699:20239,LH00995:41:23WJ53LT4:2:1367:24307:25031,LH00995:41:23WJ53LT4:6:2419:6865:9169

RAD51D

RFFL

-/-

chr17:35101201

chr17:35021781

CDS/splice-site

deletion/read-through

238

221

low

in-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

GCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCC

LKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|QTCLDCKKNFCMTCSSQVGNGP

LH00995:41:23WJ53LT4:4:2481:5150:28002

PKD1P1

5_8S_rRNA(1943),FP236383.3(121767)

+/+

./+

chr16:16320310

chr21:8258876

intron

intergenic

translocation

305

low

ENSG00000244257.5

ENST00000458669.1

downstream

upstream

duplicates(1),mismatches(1)

GCAGGTCCCCGGACAACAGGACCCAGCTGGTCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACTCGGGTCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCGGTGTGTGGCCCTGACCTGGGTCTGTTCCCTGCATCTCCTCAGGCCACCTTCCTGTCTGCTGCCCAGGGTCTGGGTCTGCGCAGCAGACACACCCAGCCTGCAGGCCCCTCCCACGTCCTTGCCACCTCTGAC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LH00995:41:23WJ53LT4:1:1268:19324:12784,LH00995:41:23WJ53LT4:2:1487:6792:24344,LH00995:41:23WJ53LT4:3:2119:2165:1420,LH00995:41:23WJ53LT4:8:1274:36531:22943,LH00995:41:23WJ53LT4:8:1274:36547:22943

AC138969.1

5_8S_rRNA(1943),FP236383.3(121767)

+/+

./+

chr16:16320310

chr21:8258876

intron

intergenic

translocation

305

low

ENSG00000183889.12

ENST00000536260.5

downstream

upstream

duplicates(1),mismatches(1)

LH00995:41:23WJ53LT4:1:1268:19324:12784,LH00995:41:23WJ53LT4:2:1487:6792:24344,LH00995:41:23WJ53LT4:3:2119:2165:1420,LH00995:41:23WJ53LT4:8:1274:36531:22943,LH00995:41:23WJ53LT4:8:1274:36547:22943

MYOCOS

Z98751.2

+/+

chr1:171623978

chr1:171762044

CDS/splice-site

intergenic

deletion/read-through

201

low

out-of-frame

ENSG00000283683.1

ENSG00000236741.4

ENST00000636697.1

ENST00000468716.2

downstream

upstream

CATGGCTCAGAAAAGCCTTGCAAACAACAGCATTAATCTCCCCTACAAGGACTTGACCTCCGAGGTAACCAGGCGCCGAGTCACCATGATCACAAG|TTTTAATTTCCAGGACTTGAACTCGCTGCCATGTCCACTAAAGAAGGAAAGATCTTCGTGGGAGGGCTCAACATTAACACCGACGAGCAGGTGCTGGAAGACGACTTCAGCAGCTTCGGGCCTGTCTCTGAGGTGGTCATTGTC

MAQKSLANNSINLPYKDLTSEVTRRRVTMITs|fnfqdlnslpcplkkersswegstltptsrcwkttsaasglslrwsl

LH00995:41:23WJ53LT4:2:2450:30003:16203,LH00995:41:23WJ53LT4:5:1151:4568:16876,LH00995:41:23WJ53LT4:6:2222:13620:22103

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

TCTACATGGACCATTATCACATCAACCCTGTGCTTGTCAGCTTTTGCCACATCCTGATCACAAATCACAGGGAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTC?TCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGC

LH00995:41:23WJ53LT4:2:1245:8815:4083,LH00995:41:23WJ53LT4:4:2218:15708:10921,LH00995:41:23WJ53LT4:7:1157:33522:10753

AL512590.2

CCDC180

+/+

chr9:97290665

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

TCTTCCTTTGAAGTTCCATAACCCGGCCTCGTCGGAGAGCATG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGG

LH00995:41:23WJ53LT4:1:2202:28684:29333

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

duplicates(1)

CCAAACCAGGGCCTGGAAATGCTGCAAGGGCTGGGCATTGGGAT|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTcCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCcTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCAC

LH00995:41:23WJ53LT4:2:1338:18021:12798,LH00995:41:23WJ53LT4:2:1338:18038:12798

AL512590.2

CCDC180

+/+

chr9:97294110

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)

TGCCTTTCCAGGCTGCTCATCAGTTGCCTCCTCGGCATGTGGCTGATTGCCCGCATCGACAGGACCATCATGCAGAGTGGCTATGAGGGAGCAGACATGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTC...ACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGCGGGCTGCAGAGCGTTCTGTGACCCTGAAGAGTGGCAGGATACCCATGATGAAGAAGGTGGAGACTCCTGAAGGGGAGGTGATGTCTCCCCG

LH00995:41:23WJ53LT4:8:2455:46199:1743,LH00995:41:23WJ53LT4:8:2455:46215:1743

GLT1D1

FBXO3

+/+

-/-

chr12:128957643

chr11:33742084

CDS/splice-site

translocation

102

low

in-frame

Glycosyl_transferases_group_1(84%)|

ENSG00000151948.12

ENSG00000110429.14

ENST00000281703.11

ENST00000265651.8

downstream

GGCCAGGAACATCCCCGGGAATGCTGCCGTGGTGAAGCATGAAGTCACAGGGCTACTGTTTTCCAATCCTCAG|GAAATGGGTCCTGATGAATATcAgGAGATGGAAGAAGAGGAGGAGG

ARNIPGNAAVVKHEVTGLLFSNPQ|EMGPDEYqEMEEEEE

LH00995:41:23WJ53LT4:1:2435:4487:19314,LH00995:41:23WJ53LT4:8:2403:39055:18207

AGAP6

TIMM23

+/+

chr10:49994429

chr10:45975454

CDS/splice-site

duplication

778

499

low

|Tim17/Tim22/Tim23/Pmp24_family(100%)

ENSG00000204149.14

ENSG00000265354.4

ENST00000618171.5

ENST00000580018.4

downstream

upstream

AGCTTTGGAGTTTAACCTTTCTGCCAATCCAGAGTCAAGCACAATATTCCAGAGGAACTCTCAAACAGAAG___CTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT|TAACTGGTATGAACCCTCTGTCTCCTTATTTAAATGTGGA

LH00995:41:23WJ53LT4:3:1224:48165:26839,LH00995:41:23WJ53LT4:8:1170:6558:18726

AGAP6

TIMM23

+/+

chr10:50002096

chr10:45975454

CDS/splice-site

duplication

616

499

low

out-of-frame

|Tim17/Tim22/Tim23/Pmp24_family(100%)

ENSG00000204149.14

ENSG00000265354.4

ENST00000374056.10

ENST00000580018.4

downstream

upstream

mismatches(2)

GAGGAACTCTCAAACAGAAG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT___GTATCTGCTGTGCGTTTCAGTCAACAATACAGCTTGTGTTCGACAATATTCCTTGATGACAGCACAGCCATCCAGCATTATCTTACAATGACAATAATATC|TAACTGGTATGAACCCTCTGTCT

rnsqteVVEIRRSNCTNHVSAVRFSQQYSLCSTIFLDDSTAIQHYLTMTIIs|nwyepsv

LH00995:41:23WJ53LT4:3:2276:24696:4713,LH00995:41:23WJ53LT4:3:2276:24696:4713

KIAA1586(4122),ZNF451(27483)

KIAA1586

./+

+/+

chr6:57059361

chr6:57050774

intergenic

CDS/splice-site

duplication

513

low

ENSG00000168116.14

ENST00000370733.5

downstream

upstream

GTGGGCCAGGCGCACTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAG|GAAGGACCATCGAGACCTGTTCTTGAATACATCGATCTGGTCTGTGGTGATGATGAAAACCCTAGCGCCTATTATAGTGAT___ATTCTGTTTCCTAAAATGCCAAAACGACAGGGTGATTTTTTGCATTTTTTAAATGTGAAGAAGGTGAA

LH00995:41:23WJ53LT4:2:1158:49443:10052

AKR1C6P(37742),U8(32719)

AKR1E2

./+

+/+

chr10:4929717

chr10:4830675

intergenic

CDS/splice-site

duplication

low

|Aldo/keto_reductase_family(100%)

ENSG00000165568.18

ENST00000533295.5

downstream

upstream

GGCCCAGGAGCTTCAAATTGTCTTGGGACCTCAAGAGGAGAGGAATTTAGCCAAATCATGCAG|GCTTCTCCAGGGAAAGTGACCGAGGCAGTGAAAGAGGCCATTGACGCAGGGTACCGGCACTTCGACTGTGCTTACTTTTACCACAATGAGAGGGAGGTTGGAGCAGGGATCCGTTGCAAGATCAAGGAAGGCGCTGTAAGACGGGAGGATCTGTTCATTGCCACTAAG___CTGTGGTGCACCTGCC

LH00995:41:23WJ53LT4:5:1113:51101:28786

AC018638.8

AC090114.3

+/+

chr7:128625855

chr7:128591850

exon

exon/splice-site

duplication

1128

low

ENSG00000281896.1

ENSG00000280828.1

ENST00000588755.3

ENST00000479267.2

downstream

upstream

duplicates(1)

TTTACAACTTGATAAATCAGCTTCATGAG|TGACGAGTAGCACAGCCCCTCTATGGTTTAGATGGCAGTGCTGCAAAGGAGGCAACAGAGGAGCAGTCTGCTCTGCCAATCCTCACGTCAGTGATGCTAGCAAAACCTCGGCTTGACACAGAGCAGCTGGCGTAAAGGAGAGCTGGCCTCTGCTTCACTTTTGTTTCA___GCTCAGCAAAACAGTCCCTCATCTACGGGATCTGGC

LH00995:41:23WJ53LT4:1:1395:9260:3452,LH00995:41:23WJ53LT4:2:2132:36758:21766

167 rows