aih-tih-sc-a8a787-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-a8a787-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-a8a787-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/ca/e9f190edf36313a8182eb655cb56d8/aih-tih-sc-a8a787-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 623.2 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-a8a787-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

FRMD6

ABHD12B

+/+

chr14:51715499

chr14:50901829

CDS/splice-site

duplication

300

5465

1069

high

out-of-frame

FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)|

ENSG00000139926.16

ENSG00000131969.15

ENST00000356218.8

ENST00000337334.7

downstream

upstream

duplicates(201),mismatches(2)

TGGAAAATTGGTGTTTGTG___GGTAAGAAATTTGAGATTTTGCCAGATGGCTTGCCTTCTGCCCGGAAGCTCATATACTACACGGGGTGCCCCATGCGCTCCAGACACCTCCTGCAACTTCTGAGCAACAGCCACCGCCTCTATATGAATCTGCAGCCTGTCCTGCGCCATATCCGGAAGCTGGAGGAAAACGAAG|ATTTACCGGAACATTCCAGGATTTTTACGTACACTTATGGATGCCCTGAGAAAAGACAAAATAATCTTTCCTAATGATGAAAA___TGTTAAATTCCTTTCTTCTCCTCTTCTCATCTTACATGGAGAGGATGACAGGACAGTGCCTTTGGAGTATGGGAAAAAG___CTCTATGAAATTGCACGCAATGCATACAGGAACAAAGAGAGGGTCAAGATGGTTATCTTTCCTCCTGGCTTCCAACACAACCTGCTTTGTAA

GKLVFVGKKFEILPDGLPSARKLIYYTGCPMRSRHLLQLLSNSHRLYMNLQPVLRHIRKLEENE|dlpehsriftytygcpekrqnnls*

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FRMD6

ABHD12B

+/+

chr14:51715499

chr14:50895564

CDS/splice-site

exon/splice-site

duplication

5465

medium

out-of-frame

FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)|

ENSG00000139926.16

ENSG00000131969.15

ENST00000356218.8

ENST00000554566.5

downstream

upstream

duplicates(56)

TCTTGGATTGACCATGAGGGGAATACAGATTTTTCAG___AATTTAGATGAAGAGAAACAATTACTTTATGATTTCCCCTGGACAAATGTTGGAAAATTGGTGTTTGTG___GGTAAGAAATTTGAGATTTTGCCAGATGGCTTGCCTTCTGCCCGGAAGCTCATATACTACACGGGGTGCCCCATGCGCTCCAGACACCTCCTGCAACTTCTGAGCAACAGCCACCGCCTCTATATGAATCTGCAGCCTGTCCTGCGCCATATCCGGAAGCTGGAGGAAAACGAAG|CCACTCCCAGAGCCCCTGGAACTCTGGCCCAAGGCTCTCTGACTGACTCCTTCCCAGATCTTCTCGGCTTAGCGGCTGAAGACTGACACTGCCCGATCGCCTCGGAAGCC

LGLTMRGIQIFQNLDEEKQLLYDFPWTNVGKLVFVGKKFEILPDGLPSARKLIYYTGCPMRSRHLLQLLSNSHRLYMNLQPVLRHIRKLEENE|atprapgtlaqgsltdsfpdllglaaed*

LH00995:48:23YTGFLT4:3:1288:49540:27007,LH00995:48:23YTGFLT4:3:1288:49556:27007,LH00995:48:23YTGFLT4:1:1139:39258:20183,LH00995:48:23YTGFLT4:1:1139:39274:20183,LH00995:48:23YTGFLT4:1:1158:28077:4377,LH00995:48:23YTGFLT4:1:1158:28085:4391,LH00995:48:23YTGFLT4:1:1394:47485:6465,LH00995:48:23YTGFLT4:1:1497:40382:17787,LH00995:48:23YTGFLT4:1:1497:40390:17773,LH00995:48:23YTGFLT4:1:1497:40390:17801,LH00995:48:23YTGFLT4:1:1497:40398:17815,LH00995:48:23YTGFLT4:1:1497:40406:17801,LH00995:48:23YTGFLT4:1:2126:42623:24358,LH00995:48:23YTGFLT4:1:2188:8475:21290,LH00995:48:23YTGFLT4:1:2188:8483:21304,LH00995:48:23YTGFLT4:1:2352:5215:21192,LH00995:48:23YTGFLT4:1:2352:5223:21178,LH00995:48:23YTGFLT4:1:2352:5239:21178,LH00995:48:23YTGFLT4:2:1109:28190:11383,LH00995:48:23YTGFLT4:2:1109:28199:11369,LH00995:48:23YTGFLT4:2:1113:46215:22761,LH00995:48:23YTGFLT4:2:1136:34646:6423,LH00995:48:23YTGFLT4:2:1167:14049:8581,LH00995:48:23YTGFLT4:2:1203:19380:16918,LH00995:48:23YTGFLT4:2:1284:20448:5876,LH00995:48:23YTGFLT4:2:1284:20456:5862,LH00995:48:23YTGFLT4:2:1319:25238:5792,LH00995:48:23YTGFLT4:2:1319:25246:5806,LH00995:48:23YTGFLT4:2:1319:25254:5792,LH00995:48:23YTGFLT4:2:1324:2497:12868,LH00995:48:23YTGFLT4:2:1324:2505:12854,LH00995:48:23YTGFLT4:2:1324:2505:12882,LH00995:48:23YTGFLT4:2:1344:30739:1729,LH00995:48:23YTGFLT4:2:1383:36879:17605,LH00995:48:23YTGFLT4:2:1408:14971:24527,LH00995:48:23YTGFLT4:2:2122:27106:14214,LH00995:48:23YTGFLT4:2:2164:25869:12882,LH00995:48:23YTGFLT4:2:2164:25877:12868,LH00995:48:23YTGFLT4:2:2164:25885:12854,LH00995:48:23YTGFLT4:2:2164:25885:12882,LH00995:48:23YTGFLT4:2:2164:25901:12854,LH00995:48:23YTGFLT4:2:2192:10579:12182,LH00995:48:23YTGFLT4:2:2328:44322:12280,LH00995:48:23YTGFLT4:2:2328:44330:12266,LH00995:48:23YTGFLT4:2:2471:12779:3746,LH00995:48:23YTGFLT4:2:2494:17973:22663,LH00995:48:23YTGFLT4:2:2494:17981:22649,LH00995:48:23YTGFLT4:3:1321:45592:6437,LH00995:48:23YTGFLT4:3:1354:48820:28842,LH00995:48:23YTGFLT4:3:1364:23345:25830,LH00995:48:23YTGFLT4:3:1381:48577:28562,LH00995:48:23YTGFLT4:3:1381:48585:28576,LH00995:48:23YTGFLT4:3:1403:15230:2443,LH00995:48:23YTGFLT4:3:2110:6728:29277,LH00995:48:23YTGFLT4:3:2110:6736:29291,LH00995:48:23YTGFLT4:3:2110:6752:29291,LH00995:48:23YTGFLT4:3:2188:14405:14998,LH00995:48:23YTGFLT4:3:2188:5725:8006,LH00995:48:23YTGFLT4:3:2188:5733:8020,LH00995:48:23YTGFLT4:3:2203:21994:27217,LH00995:48:23YTGFLT4:3:2287:48585:17142,LH00995:48:23YTGFLT4:3:2354:13540:29137,LH00995:48:23YTGFLT4:3:2354:13556:29137,LH00995:48:23YTGFLT4:3:2403:37648:8791,LH00995:48:23YTGFLT4:3:2403:37656:8777,LH00995:48:23YTGFLT4:3:2438:29849:12938,LH00995:48:23YTGFLT4:3:2481:11371:10080,LH00995:48:23YTGFLT4:3:2481:11388:10080,LH00995:48:23YTGFLT4:4:1103:34946:23504,LH00995:48:23YTGFLT4:4:1105:11250:2275,LH00995:48:23YTGFLT4:4:1129:21751:20631,LH00995:48:23YTGFLT4:4:1212:6833:1350,LH00995:48:23YTGFLT4:4:1212:6841:1336,LH00995:48:23YTGFLT4:4:1218:11201:20407,LH00995:48:23YTGFLT4:4:1218:11210:20421,LH00995:48:23YTGFLT4:4:1218:11218:20407,LH00995:48:23YTGFLT4:4:1227:45633:16624,LH00995:48:23YTGFLT4:4:1229:25723:22551,LH00995:48:23YTGFLT4:4:1233:29922:21556,LH00995:48:23YTGFLT4:4:1244:27940:18655,LH00995:48:23YTGFLT4:4:1415:13159:12112,LH00995:48:23YTGFLT4:4:2110:41167:27497,LH00995:48:23YTGFLT4:4:2110:41183:27497,LH00995:48:23YTGFLT4:4:2117:38376:27231,LH00995:48:23YTGFLT4:4:2117:38392:27231,LH00995:48:23YTGFLT4:4:2121:38845:4811,LH00995:48:23YTGFLT4:4:2128:50713:18726,LH00995:48:23YTGFLT4:4:2147:35941:27497,LH00995:48:23YTGFLT4:4:2261:17277:27315,LH00995:48:23YTGFLT4:4:2274:46312:28226,LH00995:48:23YTGFLT4:4:2322:9228:19650,LH00995:48:23YTGFLT4:4:2322:9236:19636,LH00995:48:23YTGFLT4:4:2322:9244:19650,LH00995:48:23YTGFLT4:4:2322:9252:19636,LH00995:48:23YTGFLT4:4:2348:41134:11159,LH00995:48:23YTGFLT4:4:2365:31758:11958,LH00995:48:23YTGFLT4:4:2414:43545:20267,LH00995:48:23YTGFLT4:4:2414:43561:20267,LH00995:48:23YTGFLT4:4:2441:13612:5134,LH00995:48:23YTGFLT4:5:1122:4738:23532,LH00995:48:23YTGFLT4:5:1122:4746:23518,LH00995:48:23YTGFLT4:5:1126:7747:22243,LH00995:48:23YTGFLT4:5:1139:33166:1841,LH00995:48:23YTGFLT4:5:1140:16525:5330,LH00995:48:23YTGFLT4:5:1158:7723:28086,LH00995:48:23YTGFLT4:5:1163:32964:13569,LH00995:48:23YTGFLT4:5:1163:32972:13555,LH00995:48:23YTGFLT4:5:1163:32972:13583,LH00995:48:23YTGFLT4:5:1163:32980:13597,LH00995:48:23YTGFLT4:5:1163:32988:13555,LH00995:48:23YTGFLT4:5:1165:40722:29585,LH00995:48:23YTGFLT4:5:1165:40730:29571,LH00995:48:23YTGFLT4:5:1165:40746:29571,LH00995:48:23YTGFLT4:5:1190:9381:19356,LH00995:48:23YTGFLT4:5:1304:45802:20897,LH00995:48:23YTGFLT4:5:1369:47477:11691

ABHD12B

FRMD6

+/+

chr14:50904192

chr14:51689691

CDS/splice-site

5'UTR/splice-site

deletion

1355

1866

medium

out-of-frame

Serine_aminopeptidase__S33(100%)|FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)

ENSG00000131969.15

ENSG00000139926.16

ENST00000337334.7

ENST00000356218.8

downstream

upstream

duplicates(4)

AGTGCCTTTGGAGTATGGGAAAAAG___CTCTATGAAATTGCACGCAATGCATACAGGAACAAAGAGAGGGTCAAGATGGTTATCTTTCCTCCTGGCTTCCAACACAACCTGCTTTGTAAAAGCCCCACACTGTTAATAACCGTGAG|CTATGAAACCCACGTAGTCGAACACCGTGATGCTTCTCCTGCAGGGCGTGTGATGAGGAGGCGAGCTTGGCTTTGGAGTGCTGGGAACCTGAGGAATTGCCAAGGACCCAGAGCCCAGCCCTGACCACCAGAGTGCCCAAAACACAATGAACAAATTGAATTTTCATAACAACAGAGTCATGCAAGACCGCCGCAGTGTGTGC...TAaAtGTTAAGATTCTGTGTCACCAGTTGCTGGTCCAGGTTTGTGACCTGCTCAGGCTAAAGGACTGCCACCTCTTTGGACTCAGTGTTATACAAA___ATAATGAACATGTGTATATGGAGTTGTCACAAAAGCTTTACAAATATTGTCC

VPLEYGKKLYEIARNAYRNKERVKMVIFPPGFQHNLLCKSPTLLITVs|yethvvehrdaspagrvmrrrawlwsagnlrncqgpraqp*

LH00995:48:23YTGFLT4:1:2311:16784:1771,LH00995:48:23YTGFLT4:1:2383:34565:9001,LH00995:48:23YTGFLT4:2:1148:47898:15923,LH00995:48:23YTGFLT4:4:2437:4924:22481,LH00995:48:23YTGFLT4:4:2437:4932:22495,LH00995:48:23YTGFLT4:3:1178:46061:25662,LH00995:48:23YTGFLT4:3:1448:3322:20547,LH00995:48:23YTGFLT4:5:1119:36475:7123,LH00995:48:23YTGFLT4:5:1221:41490:1238,LH00995:48:23YTGFLT4:5:1221:41499:1224,LH00995:48:23YTGFLT4:5:1221:41515:1224

ABHD12B

FRMD6

+/+

chr14:50904192

chr14:51698142

CDS/splice-site

deletion

1355

7871

medium

out-of-frame

Serine_aminopeptidase__S33(100%)|FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(77%),FERM_central_domain(100%)

ENSG00000131969.15

ENSG00000139926.16

ENST00000337334.7

ENST00000344768.10

downstream

upstream

duplicates(1)

CCTTTCTTCTCCTCTTCTCATCTTACATGGAGAGGATGACAGGACAGTGCCTTTGGAGTATGGGAAAAAG___CTCTATGAAATTGCACGCAATGCATACAGGAACAAAGAGAGGGTCAAGATGGTTATCTTTCCTCCTGGCTTCCAACACAACCTGCTTTGTAAAAGCCCCACACTGTTAATAACCGTGAG|GTTAAGATTCTGTGTCACCAGTTGCTGGTCCAGGTTTGTGACCTGCTCAGGCTAAAGGACTGCCACCTCTTTGGACTCAGTGTTATACAAA___ATAATGAACATGTGTATATGGAGTTGTCACAAAAGCTTTACAAATATTGTCCAAAAGAATGGAAGAAAGAGGCCAGCAAGGT

LSSPLLILHGEDDRTVPLEYGKKLYEIARNAYRNKERVKMVIFPPGFQHNLLCKSPTLLITVr|lrfcvtscwsrfvtcsg*

LH00995:48:23YTGFLT4:1:1272:32988:19356,LH00995:48:23YTGFLT4:2:1433:4503:19987,LH00995:48:23YTGFLT4:4:2396:28579:3816,LH00995:48:23YTGFLT4:1:1396:41013:23476

FRMD6

ABHD12B

+/+

chr14:51689935

chr14:50901829

CDS/splice-site

duplication

8005

1069

low

in-frame

FERM_N-terminal_domain_(22%)|

ENSG00000139926.16

ENSG00000131969.15

ENST00000356218.8

ENST00000337334.7

downstream

upstream

duplicates(1)

GCCCTGACCACCAGAGTGCCCAAAACACAATGAACAAATTGAATTTTCATAACAACAGAGTCATGCAAGACCGCCGCAGTGTGTGCATTTTCCTTCCCAACGATGAATCTCTGAACATCATCATAAAT|ATTTACCGGAACATTCCAGGATTTTTACGTACACTTATGGATGCCCTGAGAAAAG

MNKLNFHNNRVMQDRRSVCIFLPNDESLNIIIN|IYRNIPGFLRTLMDALRK

LH00995:48:23YTGFLT4:2:1315:38740:6955,LH00995:48:23YTGFLT4:2:1315:38748:6969,LH00995:48:23YTGFLT4:5:1407:18919:1322

ABHD12B

FRMD6

+/+

chr14:50901911

chr14:51689691

CDS/splice-site

5'UTR/splice-site

deletion

1240

1866

low

out-of-frame

Serine_aminopeptidase__S33(100%)|FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)

ENSG00000131969.15

ENSG00000139926.16

ENST00000337334.7

ENST00000356218.8

downstream

upstream

duplicates(1)

TTCCTAATGATGAAAA|CTATGAAACCCACGTAGTCGAACACCGTGATGCTTCTCCTGCAGGGCGTGTGATGAGGAGGCGAGCTTGGCTTTGGAGTGCTGGGAACCTGAGGAATTGCCAAGGACCCAGAGCCCAGCCCTGACCACCAGAGTG...TGAACATCATCAcAAAT___GTTAAGATTCTGTGTCACCAGTTGCTGGTCCAGGTTTGTGACCTGCTCAGGCTAAAGGACTGCCACCTCTTTGGACTCAGTGTTATACAAA___ATAATGAACATGTGTATATGGAGTTGTCACAAAAGCTTTACAA

PNDEn|yethvvehrdaspagrvmrrrawlwsagnlrncqgpraqp*

LH00995:48:23YTGFLT4:4:2360:16395:18109,LH00995:48:23YTGFLT4:4:2360:16403:18095

ABHD12B

FRMD6

+/+

chr14:50901911

chr14:51698142

CDS/splice-site

deletion

1240

7871

low

out-of-frame

Serine_aminopeptidase__S33(100%)|FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(77%),FERM_central_domain(100%)

ENSG00000131969.15

ENSG00000139926.16

ENST00000337334.7

ENST00000356218.8

downstream

upstream

duplicates(2),mismatches(1)

AGATTTACCGGAACATTCCAGGATTTTTACGTACACTTATGGATGCCCTGAGAAAAGACAAAATAATCTTTCCTAATGATGAAAA|GTTAAGATTCTGTGTCACCAGTTGCTGGTCCAGGTTTGTGACCTGCTCAGGCTAAAGGACTGCCACCTCTTTGGACTCAG

IYRNIPGFLRTLMDALRKDKIIFPNDEk|lrfcvtscwsrfvtcsg*

LH00995:48:23YTGFLT4:3:2211:32729:24176,LH00995:48:23YTGFLT4:1:1112:38206:7656,LH00995:48:23YTGFLT4:3:1308:28312:4139,LH00995:48:23YTGFLT4:3:1308:28328:4139

FRMD6

ABHD12B

+/+

chr14:51715499

chr14:50904074

CDS/splice-site

duplication

5465

1657

low

out-of-frame

FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)|

ENSG00000139926.16

ENSG00000131969.15

ENST00000356218.8

ENST00000337334.7

downstream

upstream

GATTTTGCCAGATGGCTTGCCTTCTGCCCGGAAGCTCATATACTACACGGGGTGCCCCATGCGCTCCAGACACCTCCTGCAACTTCTGAGCAACAGCCACCGCCTCTATATGAATCTGCAGCCTGTCCTGCGCCATATCCGGAAGCTGGAGGAAAACGAAG|CTCTATGAAATTGCACGCAATGCATACAGGAACAAAGAGAGGGTCAAGATGGTTATCTTTCCTCCTGGCTTCCAACACAACCTGCTTTGTAAAAGC

ILPDGLPSARKLIYYTGCPMRSRHLLQLLSNSHRLYMNLQPVLRHIRKLEENE|al*

LH00995:48:23YTGFLT4:4:1302:29315:6661

MAP4K5

NSMCE2

-/-

+/+

chr14:50462665

chr8:125102051

CDS/splice-site

5'UTR/splice-site

translocation

170

127

2285

1637

high

out-of-frame

Protein_kinase_domain(100%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

duplicates(152),mismappers(3),mismatches(1)

GTCAAAAAGTAATTTTCAGCCTCCAAAACTAAAGGACAAAACAAAATG___GTCATCAACATTCCATAATTTTGTCAAAATAGCACTAACCAAAAACCCAAAAAAAAGACCAACTGCTGAAAGACTTCTGACT___CACACTTTTGTTGCACAGCCAGGTCTCTCTAGAGCCCTAGCAGTTGAACTGTTAGACAAAGTGAACAATCCAGATAACCACGCACATTACACTGAAGCAGATGACGATGACTTTGAG|AATCAAGCACTCTTTTGGAAGAGGGTAATCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAG

SKSNFQPPKLKDKTKWSSTFHNFVKIALTKNPKKRPTAERLLTHTFVAQPGLSRALAVELLDKVNNPDNHAHYTEADDDDFE|nqalfwkrvislqklrtltfpiy*

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MAP4K5

NSMCE2

-/-

+/+

chr14:50462665

chr8:125102014

CDS/splice-site

5'UTR/splice-site

translocation

135

2285

378

high

in-frame

Protein_kinase_domain(100%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000517532.5

upstream

duplicates(98),mismappers(1),mismatches(1)

GCCTCCAAAACTAAAGGACAAAACAAAATG___GTCATCAACATTCCATAATTTTGTCAAAATAGCACTAACCAAAAACCCAAAAAAAAGACCAACTGCTGAAAGACTTCTGACT___CACACTTTTGTTGCACAGCCAGGTCTCTCTAGAGCCCTAGCAGTTGAACTGTTAGACAAAGTGAACAATCCAGATAACCACGCACATTACACTGAAGCAGATGACGATGACTTTGAG|GCTTTTAAGAACTGTGCTATTGTTGACTTCTTCACAGAATCAAGCACTCTTTTGGAAGAGGGTAATCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCC

PPKLKDKTKWSSTFHNFVKIALTKNPKKRPTAERLLTHTFVAQPGLSRALAVELLDKVNNPDNHAHYTEADDDDFE|afkncaivdfftesstlleegnlspktedtylphilspavfggpgtnfkMPGRSSSNSGSTGFISFSGVESALS

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NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50486194

CDS/splice-site

translocation

10483

4936

medium

in-frame

|CNH_domain(100%),Protein_kinase_domain(85%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(11)

CTCTTTTGGAAGAGGGTAgTCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GAGATGATTTTTCTTTGATTCAACAAGAAATATTTATGGTTAAAGAATGTAAACATTGTAACATCGTTGCCTACTTTGGGAGTTATCTTAG___TCGGGAAAAACTATGGATTTGTATGGAATACTGTGGTGGCGGATCACTTCAAGATATTTACCATG___TTACTGGACCATTATCAGAATTGCAAATAGCCTATGTATGCAGAGAAACCTTACAG...___GGTCTTGCCTATTTGC

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|rDDFSLIQQEIFMVKECKHCNIVAYFGSYLSREKLWICMEYCGGGSLQDIYHVTGPLSELQIAYVCRETL

LH00995:48:23YTGFLT4:1:2137:27883:22957,LH00995:48:23YTGFLT4:1:2223:27462:24723,LH00995:48:23YTGFLT4:1:2360:22908:25522,LH00995:48:23YTGFLT4:1:2393:17609:18165,LH00995:48:23YTGFLT4:2:1320:33562:23798,LH00995:48:23YTGFLT4:2:2396:51441:20379,LH00995:48:23YTGFLT4:2:2396:51449:20365,LH00995:48:23YTGFLT4:4:2241:46304:21318,LH00995:48:23YTGFLT4:4:2411:5045:15124,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:1394:49500:8749,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:1446:12496:13401,LH00995:48:23YTGFLT4:3:1446:12504:13415,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937,LH00995:48:23YTGFLT4:5:1282:39986:23294

MAP4K5

NSMCE2

-/-

+/+

chr14:50462665

chr8:125102317

CDS/splice-site

5'UTR/splice-site

translocation

2285

7933

medium

out-of-frame

Protein_kinase_domain(100%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000523549.1

upstream

duplicates(3)

TCCAAAACTAAAGGACAAAACAAAATG___...GGTCATCAACATTCCATAATTTTGTCAAAATAGCACTAACCAAAAACCCAAAAAAAAGACCAACTGCTGAAAGACTTCTGACT___CACACTTTTGTTGCACAGCCAGGTCTCTCTAGAGCCCTAGCAGTTGAACTGTTAGACAAAGTGAACAATCCAGATAACCACGCACATTACACTGAAGCAGATGACGATGACTTTGAG|GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___CTAGGTGTGGTGGCGCACGCCTGTAGTTCCAGCTACTTGGGAGGCTGAAGTGGGA

SSTFHNFVKIALTKNPKKRPTAERLLTHTFVAQPGLSRALAVELLDKVNNPDNHAHYTEADDDDFE|vlisrcqdvpvqiqvqlvsspsvv*

LH00995:48:23YTGFLT4:1:2349:31491:27105,LH00995:48:23YTGFLT4:2:1191:43157:18193,LH00995:48:23YTGFLT4:2:1210:29509:17983,LH00995:48:23YTGFLT4:2:1210:29517:17997,LH00995:48:23YTGFLT4:3:2210:21710:4783,LH00995:48:23YTGFLT4:3:2474:31863:8300,LH00995:48:23YTGFLT4:1:1137:7723:6171,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781,LH00995:48:23YTGFLT4:3:1334:27867:8889,LH00995:48:23YTGFLT4:3:1349:22981:9870,LH00995:48:23YTGFLT4:3:2448:14526:17731,LH00995:48:23YTGFLT4:4:2254:35690:13387

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50482416

CDS/splice-site

translocation

10483

8521

medium

in-frame

|CNH_domain(100%),Protein_kinase_domain(65%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(13)

CTCTTTTGGAAGAGGGTAgTCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|TTACTGGACCATTATCAGAATTGCAAATAGCCTATGTATGCAGAGAAACCTTACAG___GGTCTTGCCTATTTGCATACTAAAGGCAAAATGCATAGAGATATCAAA___GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCTGCAAAAATAACAGCTACCATTGCAAAA

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|iTGPLSELQIAYVCRETLQGLAYLHTKGKMHRDIKGANILLTDHGDVKLADFGVAAKITATIA

LH00995:48:23YTGFLT4:1:1201:31022:16540,LH00995:48:23YTGFLT4:2:1125:48763:26755,LH00995:48:23YTGFLT4:1:2342:28676:27133,LH00995:48:23YTGFLT4:2:2387:13580:21220,LH00995:48:23YTGFLT4:2:2483:44395:29669,LH00995:48:23YTGFLT4:2:2483:44403:29683,LH00995:48:23YTGFLT4:3:2140:43691:21640,LH00995:48:23YTGFLT4:3:2209:19105:29669,LH00995:48:23YTGFLT4:3:2209:19114:29655,LH00995:48:23YTGFLT4:3:2209:19122:29669,LH00995:48:23YTGFLT4:3:2209:19130:29655,LH00995:48:23YTGFLT4:4:1376:14842:1518,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50504857

CDS/splice-site

translocation

10483

4925

medium

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(93%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(10)

CTCTTTTGGAAGAGGGTAgTCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GCCAGAAATGTACACACAGGAGAGCTGGCTGCAGTAAAAATCATTAAATTGGAGCCTG___CACACTTTTGTTGCACAGCCAGGTCTCTCTAGAGCCCTAGtAGTTGAACTGTTAGACAAAGTGAACAATCCAG

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|sqkcthrragcsknh*

LH00995:48:23YTGFLT4:2:1198:38505:10080,LH00995:48:23YTGFLT4:3:1142:24599:29459,LH00995:48:23YTGFLT4:4:2376:27204:2303,LH00995:48:23YTGFLT4:4:1191:2602:5652,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:1394:49500:8749,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:1446:12496:13401,LH00995:48:23YTGFLT4:3:1446:12504:13415,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937,LH00995:48:23YTGFLT4:5:1282:39986:23294

NSMCE2

MAP4K5

+/+

-/-

chr8:125151277

chr14:50486194

CDS/splice-site

translocation

10972

4936

medium

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(85%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(9)

GACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GAGATGATTTTTCTTTGATTCAACAAGAAATATTTATGGTTAAAGAATGTAAACATTGTAACATCGTTGCCTACTTTGGGAGTTATCTTAG___TCGGGAAAAACTATGGATTTGTATGGAATACTGTGGTGGCGGATCACTTCAAGATATTTACCATG___GGTCTTGCCTATTTG

DKAMVEFATLDRQLNHYVKAVQSTINH|emifl*

LH00995:48:23YTGFLT4:5:1104:43254:23826,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:1394:49500:8749,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:1446:12496:13401,LH00995:48:23YTGFLT4:3:1446:12504:13415,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937,LH00995:48:23YTGFLT4:5:1282:39986:23294

NSMCE2

MAP4K5

+/+

-/-

chr8:125151277

chr14:50504857

CDS/splice-site

translocation

10972

4925

medium

in-frame

|CNH_domain(100%),Protein_kinase_domain(93%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000517315.1

ENST00000013125.8

downstream

duplicates(9)

CACAGGCAGCCATGAGTTAAAATGCAAGTTCTGCTATCTGCTAGCTCT___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GCCAGAAATGTACACACAGGAGAGCTGGCTGC

MDKAMVEFATLDRQLNHYVKAVQSTINH|ARNVHTGELA

LH00995:48:23YTGFLT4:1:1369:33676:1182,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:1394:49500:8749,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:1446:12496:13401,LH00995:48:23YTGFLT4:3:1446:12504:13415,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937,LH00995:48:23YTGFLT4:5:1282:39986:23294

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50476306

CDS/splice-site

translocation

10483

8937

medium

in-frame

|CNH_domain(100%),Protein_kinase_domain(58%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000554091.5

downstream

duplicates(3)

AGGTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GGTCTTGCCTATTTGCATACTAAAGGCAAAATGCATAGAGATATCAAA___GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCTGCAAAAATAACAGCTACCATTGCAAAACGAAAATCTTTC

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|rSCLFAY*

LH00995:48:23YTGFLT4:2:1423:16873:3046,LH00995:48:23YTGFLT4:2:1367:46700:12981,LH00995:48:23YTGFLT4:2:1367:46700:13009,LH00995:48:23YTGFLT4:2:1367:46709:12995,LH00995:48:23YTGFLT4:2:2356:22568:27679,LH00995:48:23YTGFLT4:4:2255:39379:6577,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937

MAP4K5

NSMCE2

-/-

+/+

chr14:50531942

chr8:125151171

CDS/splice-site

translocation

5951

11344

medium

out-of-frame

Protein_kinase_domain(6%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

duplicates(5)

GGGAATCCGGGAGCCGCGGGGTGAGCTGGCGGGGGCCGGGCCCTAAGTGAAGATGGAGGCCCCGCTGCGGCCTGCCGCGGACATCCTGAGGCGGAACCCGCAGCAGGACTACGAACTCGTCCAGAGGGTCGGCAGCGGCACCTACGGGGACGTCTATAAG|CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAA

MEAPLRPAADILRRNPQQDYELVQRVGSGTYGDVYK|lk*

LH00995:48:23YTGFLT4:1:1236:33125:27721,LH00995:48:23YTGFLT4:1:1314:9583:2359,LH00995:48:23YTGFLT4:1:1314:9592:2345,LH00995:48:23YTGFLT4:2:1148:44265:10865,LH00995:48:23YTGFLT4:2:1266:44872:28702,LH00995:48:23YTGFLT4:3:1203:3322:5246,LH00995:48:23YTGFLT4:3:1203:3330:5260,LH00995:48:23YTGFLT4:2:2152:41199:9842,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781

NSMCE2

MAP4K5

+/+

-/-

chr8:125156098

chr14:50482416

3'UTR/splice-site

CDS/splice-site

translocation

849

8521

medium

|CNH_domain(100%),Protein_kinase_domain(65%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000519712.1

ENST00000013125.8

downstream

duplicates(8)

TTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCATcTAgGT...GCCCAGGAGTTCAAGATCAGCCTGGACAACATA|TTACTGGACCATTATCAGAATTGCAAATAGCCTATGTATGCAGAGAAACCTTACAG___GGTCTTGCCTATTTGCATACTAAAGGCAAAATGCATAGAGATATCAAA___GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCT

LH00995:48:23YTGFLT4:1:2159:15117:18669,LH00995:48:23YTGFLT4:1:2235:35803:10220,LH00995:48:23YTGFLT4:1:2235:35811:10206,LH00995:48:23YTGFLT4:1:2235:35819:10220,LH00995:48:23YTGFLT4:1:2235:35836:10220,LH00995:48:23YTGFLT4:1:2281:50163:23462,LH00995:48:23YTGFLT4:2:2172:19469:28562,LH00995:48:23YTGFLT4:2:2172:19478:28548,LH00995:48:23YTGFLT4:2:2172:19478:28576,LH00995:48:23YTGFLT4:2:2172:19486:28562,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937

MAP4K5

NSMCE2

-/-

+/+

chr14:50462665

chr8:125151171

CDS/splice-site

translocation

2285

11344

medium

out-of-frame

Protein_kinase_domain(100%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

duplicates(2)

GACCAACTGCTGAAAGACTTCTGACT___CACACTTTTGTTGCACAGCCAGGTCTCTCTAGAGCCCTAGCAGTTGAACTGTTAGACAAAGTGAACAATCCAGATAACCACGCACATTACACTGAAGCAGATGACGATGACTTTGAG|CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACC...GCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAAC

PTAERLLTHTFVAQPGLSRALAVELLDKVNNPDNHAHYTEADDDDFE|lk*

LH00995:48:23YTGFLT4:1:1147:46595:22551,LH00995:48:23YTGFLT4:1:1257:47534:5820,LH00995:48:23YTGFLT4:3:2114:20554:18445,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781

MAP4K5

NSMCE2

-/-

+/+

chr14:50504800

chr8:125151171

CDS/splice-site

translocation

4485

11344

medium

Protein_kinase_domain(14%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000554066.1

ENST00000287437.8

upstream

duplicates(1)

AGGCCAGAAATGTACACACAGGAGAGCTGGCTGCAGTAAAAATCATTAAATTGGAGCCTG|CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTAT

LH00995:48:23YTGFLT4:1:2138:30868:25858,LH00995:48:23YTGFLT4:4:1475:47542:7488,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781

MAP4K5

NSMCE2

-/-

+/+

chr14:50531942

chr8:125102051

CDS/splice-site

5'UTR/splice-site

translocation

5951

1637

medium

out-of-frame

Protein_kinase_domain(6%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

duplicates(1)

GGGAATCCGGGAGCCGCGGGGTGAGCTGGCGGGGGCCGtGCCCTAAGTGAAGATGGAGGCCCCGCTGCGGCCTGCCGCGGACATCCTGAGGCGGAACCCGCAGCAGGACTACGAACTCGTCCAGAGGGTCGGCAGCGGCACCTACGGGGACGTCTATAAG|AATCAAGCACTCTTTTGGAAGAGGGTAATCTCTCTCC

MEAPLRPAADILRRNPQQDYELVQRVGSGTYGDVYK|nqalfwkrvisl

LH00995:48:23YTGFLT4:4:2409:6970:29389,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781

NSMCE2

MAP4K5

+/+

-/-

chr8:125151277

chr14:50476306

CDS/splice-site

translocation

10972

8937

medium

in-frame

|CNH_domain(100%),Protein_kinase_domain(58%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(3)

GTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GGTCTTGCCTATTTGCATACTAAAGGCAAAATGCATAGAGATATCAAA___GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCTGCAAAAATAACAGCTACCATTGCAAAACGAAAATCTTTC

VESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINH|GLAYLHTKGKMHRDIKGANILLTDHGDVKLADFGVAAKITATIAKRKS

LH00995:48:23YTGFLT4:1:1127:50066:4853,LH00995:48:23YTGFLT4:2:1141:17285:23434,LH00995:48:23YTGFLT4:3:2188:16808:13387,LH00995:48:23YTGFLT4:3:2194:38926:15937,LH00995:48:23YTGFLT4:3:2194:38942:15937

MAP4K5

NSMCE2

-/-

+/+

chr14:50531942

chr8:125182103

CDS/splice-site

translocation

5951

6303

medium

in-frame

Protein_kinase_domain(6%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

duplicates(1)

GGGAATCCGGGAGCCGCGGGGTGAGCTGGCGGGGGCCGtGCCCTAAGTGAAGATGGAGGCCCCGCTGCGGCCTGCCGCGGACATCCTGAGGCGGAACCCGCAGCAGGACTACGAACTCGTCCAGAGGGTCGGCAGCGGCACCTACGGGGACGTCTATAAG|GTGAAAGAAGAACGTCCAG...TTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT___GTGGTCTTCAAGCTGAtAGAGAAGCTGAC

MEAPLRPAADILRRNPQQDYELVQRVGSGTYGDVYK|VKEERP

LH00995:48:23YTGFLT4:4:1108:30982:1869,LH00995:48:23YTGFLT4:1:1287:46409:10795,LH00995:48:23YTGFLT4:1:1287:46417:10781

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50464133

CDS/splice-site

translocation

10483

6448

low

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(12%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

CTCTTTTGGAAGAGGGTAATCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GTCATCAACATTCCATAATTTTGTCAAAATAGCACTAACCAAAAACCCAAAAAAAAGACCAACTGCTGAAAGACTTCTGACT___CACACTTTTGTTGCACAGC

MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|shqhsiilsk*

LH00995:48:23YTGFLT4:2:1243:21338:28492,LH00995:48:23YTGFLT4:4:2212:1299:16400

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50468782

CDS/splice-site

translocation

10483

7842

low

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(37%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

CCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GATGGCCCCAGAAGTTGCAGCAGTAGAGAAGAATGGTGGCTACAACCAACTCTGTGATATCTGGGCAGTAGGAATAACAGCAATTGAACTTGGAGAACTTCAGCCACCTATGTTTGATC

SSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQ|rwpqklqq*

LH00995:48:23YTGFLT4:3:1317:9389:5638,LH00995:48:23YTGFLT4:4:1189:49896:28156

NSMCE2

MAP4K5

+/+

-/-

chr8:125102487

chr14:50476170

CDS/splice-site

translocation

10483

9507

low

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(52%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(1)

GTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA|GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCTGCAAAAATAACAGCTACCATTGCAAAACGA

MDTASSVALDLVESQ|rc*

LH00995:48:23YTGFLT4:1:1452:31540:7964,LH00995:48:23YTGFLT4:1:1452:31548:7950

NSMCE2

MAP4K5

+/+

-/-

chr8:125151277

chr14:50468782

CDS/splice-site

translocation

10972

7842

low

out-of-frame

|CNH_domain(100%),Protein_kinase_domain(37%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

duplicates(2)

GTGTTGCTTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GATGGCCCCAGAAGTTGCAGCAGTAGAGAAGAATGGTG

VALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINH|dgprscssreew

LH00995:48:23YTGFLT4:1:1417:2925:6072,LH00995:48:23YTGFLT4:1:1417:2934:6086,LH00995:48:23YTGFLT4:4:2422:50373:28590

NSMCE2

MAP4K5

+/+

-/-

chr8:125151277

chr14:50476170

CDS/splice-site

translocation

10972

9507

low

in-frame

|CNH_domain(100%),Protein_kinase_domain(52%)

ENSG00000156831.8

ENSG00000012983.11

ENST00000287437.8

ENST00000013125.8

downstream

TATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GGTGCTAATATTTTATTGACAGACCATGGCGATGTAAAATTAG___CTGACTTTGGTGTGGCTGCAAAAATAACAGCTACCATTGCAAAACGAAAATCTTTCATTGGCACCCCTTACTG___GATGGCCCCAGAAGTTGCAGCAGTAGAGAAGAATGGTGGC

YSMDKAMVEFATLDRQLNHYVKAVQSTINH|GANILLTDHGDVKLADFGVAAKITATIAKRKSFIGTPYWMAPEVAAVEKNG

LH00995:48:23YTGFLT4:4:2364:25529:25886

MAP4K5

NSMCE2

-/-

+/+

chr14:50504800

chr8:125182103

CDS/splice-site

translocation

4485

6303

low

out-of-frame

Protein_kinase_domain(14%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000012983.11

ENSG00000156831.8

ENST00000013125.8

ENST00000287437.8

upstream

mismatches(1)

ATTAAATTGGAGCCTG|GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT___GTGGTCTTCAAGCTGACAG

IKLEP|gerrtsrkntrfkiigreeifgfteqef*

LH00995:48:23YTGFLT4:4:2467:15166:29263

TATDN1

NSMCE2

-/-

+/+

chr8:124539025

chr8:125357219

CDS/splice-site

inversion

300

2946

6010

high

in-frame

TatD_related_DNase(0%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000147687.19

ENSG00000156831.8

ENST00000522927.5

ENST00000287437.8

upstream

duplicates(59),mismatches(2)

CTGGGGAGGTCCTCCATGCGCAGTCATGAGTCGCTTCAAGTTTATCG|GTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTCACCTGCCCCATTACAAAG___GAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGGACGCCATTGTTCGCATGATTGAGTCCAGGCAAAAGCGG

MSRFKFI|gGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQK

LH00995:48:23YTGFLT4:1:1172:1453:11874,LH00995:48:23YTGFLT4:1:1213:26427:27273,LH00995:48:23YTGFLT4:1:1473:21735:3340,LH00995:48:23YTGFLT4:1:2219:39953:22845,LH00995:48:23YTGFLT4:2:1301:41046:5204,LH00995:48:23YTGFLT4:2:1478:11622:3032,LH00995:48:23YTGFLT4:2:2263:20189:22607,LH00995:48:23YTGFLT4:2:2263:20198:22593,LH00995:48:23YTGFLT4:2:2268:19146:3704,LH00995:48:23YTGFLT4:2:2480:38319:5498,LH00995:48:23YTGFLT4:3:1473:48869:15615,LH00995:48:23YTGFLT4:3:2229:41701:15699,LH00995:48:23YTGFLT4:4:1455:10012:19692,LH00995:48:23YTGFLT4:5:1228:5547:24877,LH00995:48:23YTGFLT4:5:1261:39589:10416,LH00995:48:23YTGFLT4:1:1101:14656:22635,LH00995:48:23YTGFLT4:1:1102:7674:28674,LH00995:48:23YTGFLT4:1:1102:7690:28674,LH00995:48:23YTGFLT4:1:1103:43707:11103,LH00995:48:23YTGFLT4:1:1104:5773:25998,LH00995:48:23YTGFLT4:1:1104:5781:26012,LH00995:48:23YTGFLT4:1:1106:24469:13569,LH00995:48:23YTGFLT4:1:1108:30027:25381,LH00995:48:23YTGFLT4:1:1108:49540:21262,LH00995:48:23YTGFLT4:1:1110:35560:15769,LH00995:48:23YTGFLT4:1:1112:13580:22397,LH00995:48:23YTGFLT4:1:1113:6631:9463,LH00995:48:23YTGFLT4:1:1115:17059:24134,LH00995:48:23YTGFLT4:1:1116:30982:29333,LH00995:48:23YTGFLT4:1:1117:40544:17086,LH00995:48:23YTGFLT4:1:1121:19138:17030,LH00995:48:23YTGFLT4:1:1121:7448:7880,LH00995:48:23YTGFLT4:1:1123:12811:11061,LH00995:48:23YTGFLT4:1:1123:27665:14312,LH00995:48:23YTGFLT4:1:1123:45883:2681,LH00995:48:23YTGFLT4:1:1123:8613:19342,LH00995:48:23YTGFLT4:1:1125:10247:1855,LH00995:48:23YTGFLT4:1:1125:10514:8707,LH00995:48:23YTGFLT4:1:1134:19696:2667,LH00995:48:23YTGFLT4:1:1134:4276:9477,LH00995:48:23YTGFLT4:1:1136:12334:13933,LH00995:48:23YTGFLT4:1:1136:35836:19833,LH00995:48:23YTGFLT4:1:1138:16873:8034,LH00995:48:23YTGFLT4:1:1138:16881:8048,LH00995:48:23YTGFLT4:1:1138:20837:26727,LH00995:48:23YTGFLT4:1:1138:20845:26713,LH00995:48:23YTGFLT4:1:1140:11347:2527,LH00995:48:23YTGFLT4:1:1141:23466:10767,LH00995:48:23YTGFLT4:1:1141:47518:28240,LH00995:48:23YTGFLT4:1:1146:21880:6591,LH00995:48:23YTGFLT4:1:1146:40868:26194,LH00995:48:23YTGFLT4:1:1148:38157:23013,LH00995:48:23YTGFLT4:1:1149:33870:6451,LH00995:48:23YTGFLT4:1:1149:49985:22789,LH00995:48:23YTGFLT4:1:1150:37292:12995,LH00995:48:23YTGFLT4:1:1151:28029:6955,LH00995:48:23YTGFLT4:1:1152:30302:13779,LH00995:48:23YTGFLT4:1:1154:9859:3816,LH00995:48:23YTGFLT4:1:1156:8046:19398,LH00995:48:23YTGFLT4:1:1161:18054:25886,LH00995:48:23YTGFLT4:1:1162:13887:23153,LH00995:48:23YTGFLT4:1:1162:13904:23153,LH00995:48:23YTGFLT4:1:1162:2553:26054,LH00995:48:23YTGFLT4:1:1164:10409:28758,LH00995:48:23YTGFLT4:1:1165:26581:19636,LH00995:48:23YTGFLT4:1:1167:27430:25676,LH00995:48:23YTGFLT4:1:1168:44031:3004,LH00995:48:23YTGFLT4:1:1173:38335:4573,LH00995:48:23YTGFLT4:1:1173:38343:4587,LH00995:48:23YTGFLT4:1:1177:48480:3200,LH00995:48:23YTGFLT4:1:1181:10206:1841,LH00995:48:23YTGFLT4:1:1181:9939:2555,LH00995:48:23YTGFLT4:1:1181:9956:2555,LH00995:48:23YTGFLT4:1:1182:37154:26348,LH00995:48:23YTGFLT4:1:1182:37162:26362,LH00995:48:23YTGFLT4:1:1182:37170:26348,LH00995:48:23YTGFLT4:1:1184:43448:22004,LH00995:48:23YTGFLT4:1:1185:37632:1645,LH00995:48:23YTGFLT4:1:1186:26597:18151,LH00995:48:23YTGFLT4:1:1189:14672:25045,LH00995:48:23YTGFLT4:1:1192:43011:2499,LH00995:48:23YTGFLT4:1:1192:50584:23574,LH00995:48:23YTGFLT4:1:1192:50592:23560,LH00995:48:23YTGFLT4:1:1192:8273:11663,LH00995:48:23YTGFLT4:1:1196:38683:10192,LH00995:48:23YTGFLT4:1:1197:35763:28590,LH00995:48:23YTGFLT4:1:1198:17843:27820,LH00995:48:23YTGFLT4:1:1201:12043:25564,LH00995:48:23YTGFLT4:1:1206:7626:9786,LH00995:48:23YTGFLT4:1:1206:7634:9800,LH00995:48:23YTGFLT4:1:1209:16233:19202,LH00995:48:23YTGFLT4:1:1211:24631:11916,LH00995:48:23YTGFLT4:1:1212:10943:4097,LH00995:48:23YTGFLT4:1:1212:10951:4083,LH00995:48:23YTGFLT4:1:1213:1283:16091,LH00995:48:23YTGFLT4:1:1213:1291:16077,LH00995:48:23YTGFLT4:1:1213:40374:6227,LH00995:48:23YTGFLT4:1:1214:24307:9169,LH00995:48:23YTGFLT4:1:1216:42210:14676,LH00995:48:23YTGFLT4:1:1216:51797:22173,LH00995:48:23YTGFLT4:1:1219:38416:16820,LH00995:48:23YTGFLT4:1:1220:40123:5652,LH00995:48:23YTGFLT4:1:1225:47623:7600,LH00995:48:23YTGFLT4:1:1226:9308:1182,LH00995:48:23YTGFLT4:1:1226:9317:1168,LH00995:48:23YTGFLT4:1:1229:34929:10276,LH00995:48:23YTGFLT4:1:1233:41523:3284,LH00995:48:23YTGFLT4:1:1234:8694:2639,LH00995:48:23YTGFLT4:1:1236:51829:19650,LH00995:48:23YTGFLT4:1:1238:44322:24162,LH00995:48:23YTGFLT4:1:1242:27616:19973,LH00995:48:23YTGFLT4:1:1245:6226:12490,LH00995:48:23YTGFLT4:1:1246:50503:21892,LH00995:48:23YTGFLT4:1:1246:50519:21892,LH00995:48:23YTGFLT4:1:1247:28102:28688,LH00995:48:23YTGFLT4:1:1254:14575:6801,LH00995:48:23YTGFLT4:1:1257:12949:10795,LH00995:48:23YTGFLT4:1:1258:21063:24653,LH00995:48:23YTGFLT4:1:1262:25674:3662,LH00995:48:23YTGFLT4:1:1262:25683:3648,LH00995:48:23YTGFLT4:1:1263:43473:9604,LH00995:48:23YTGFLT4:1:1263:50681:21892,LH00995:48:23YTGFLT4:1:1266:4018:23406,LH00995:48:23YTGFLT4:1:1267:19688:17899,LH00995:48:23YTGFLT4:1:1267:19704:17899,LH00995:48:23YTGFLT4:1:1267:44670:18347,LH00995:48:23YTGFLT4:1:1271:4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:23YTGFLT4:1:2117:6954:4167,LH00995:48:23YTGFLT4:1:2119:2739:13989,LH00995:48:23YTGFLT4:1:2122:21557:7235,LH00995:48:23YTGFLT4:1:2125:1316:13737,LH00995:48:23YTGFLT4:1:2128:33231:22831,LH00995:48:23YTGFLT4:1:2130:18216:9155,LH00995:48:23YTGFLT4:1:2132:49119:16974,LH00995:48:23YTGFLT4:1:2132:50139:22943,LH00995:48:23YTGFLT4:1:2134:15562:5064,LH00995:48:23YTGFLT4:1:2134:24348:15068,LH00995:48:23YTGFLT4:1:2136:27592:28338,LH00995:48:23YTGFLT4:1:2137:5814:28618,LH00995:48:23YTGFLT4:1:2140:39622:10781,LH00995:48:23YTGFLT4:1:2145:30868:1645,LH00995:48:23YTGFLT4:1:2148:40423:17212,LH00995:48:23YTGFLT4:1:2154:41134:6086,LH00995:48:23YTGFLT4:1:2157:47340:5848,LH00995:48:23YTGFLT4:1:2159:29857:3368,LH00995:48:23YTGFLT4:1:2159:35488:4741,LH00995:48:23YTGFLT4:1:2164:2343:13163,LH00995:48:23YTGFLT4:1:2166:46255:6493,LH00995:48:23YTGFLT4:1:2171:39112:4797,LH00995:48:23YTGFLT4:1:2178:2294:8539,LH00995:48:23YTGFLT4:1:2179:38562:6030,LH00995:48:23YTGFLT4:1:2180:45576:29361,LH00995:48:23YTGFLT4:1:2182:2691:7460,LH00995:48:23YTGFLT4:1:2183:25788:17591,LH00995:48:23YTGFLT4:1:2187:31685:24471,LH00995:48:23YTGFLT4:1:2191:4770:5512,LH00995:48:23YTGFLT4:1:2193:38263:13387,LH00995:48:23YTGFLT4:1:2197:48545:23966,LH00995:48:23YTGFLT4:1:2209:45891:29459,LH00995:48:23YTGFLT4:1:2210:42016:17843,LH00995:48:23YTGFLT4:1:2211:13572:15405,LH00995:48:23YTGFLT4:1:2214:13046:21052,LH00995:48:23YTGFLT4:1:2214:2149:15377,LH00995:48:23YTGFLT4:1:2215:12512:5638,LH00995:48:23YTGFLT4:1:2217:41499:8819,LH00995:48:23YTGFLT4:1:2217:48869:8132,LH00995:48:23YTGFLT4:1:2225:48310:16638,LH00995:48:23YTGFLT4:1:2227:2667:18515,LH00995:48:23YTGFLT4:1:2227:6113:3466,LH00995:48:23YTGFLT4:1:2228:49718:29025,LH00995:48:23YTGFLT4:1:2229:12205:5834,LH00995:48:23YTGFLT4:1:2232:19850:25409,LH00995:48:23YTGFLT4:1:2232:19858:25423,LH00995:48:23YTGFLT4:1:2232:19874:25423,LH00995:48:23YTGFLT4:1:2232:35018:6451,LH00995:48:23YTGFLT4:1:2232:35027:6437,LH00995:48:23YTGFLT4:1:2235:43392:1392,LH00995:48:23YTGFLT4:1:2238:47429:13597,LH00995:48:23YTGFLT4:1:2239:40414:1196,LH00995:48:23YTGFLT4:1:2243:35617:2808,LH00995:48:23YTGFLT4:1:2245:14009:15236,LH00995:48:23YTGFLT4:1:2247:48958:11930,LH00995:48:23YTGFLT4:1:2249:44516:10430,LH00995:48:23YTGFLT4:1:2257:48415:22117,LH00995:48:23YTGFLT4:1:2259:26613:18459,LH00995:48:23YTGFLT4:1:2261:15861:29571,LH00995:48:23YTGFLT4:1:2261:15878:29571,LH00995:48:23YTGFLT4:1:2262:14923:17212,LH00995:48:23YTGFLT4:1:2262:51045:8679,LH00995:48:23YTGFLT4:1:2263:8977:27371,LH00995:48:23YTGFLT4:1:2265:42817:9982,LH00995:48:23YTGFLT4:1:2267:2820:2107,LH00995:48:23YTGFLT4:1:2269:11452:16049,LH00995:48:23YTGFLT4:1:2274:29105:22018,LH00995:48:23YTGFLT4:1:2275:19170:1757,LH00995:48:23YTGFLT4:1:2275:24663:3957,LH00995:48:23YTGFLT4:1:2277:30270:4671,LH00995:48:23YTGFLT4:1:2278:50357:3788,LH00995:48:23YTGFLT4:1:2280:14203:25830,LH00995:48:23YTGFLT4:1:2284:29404:13569,LH00995:48:23YTGFLT4:1:2285:49435:15503,LH00995:48:23YTGFLT4:1:2295:51627:13415,LH00995:48:23YTGFLT4:1:2296:20327:10542,LH00995:48:23YTGFLT4:1:2296:45042:4503,LH00995:48:23YTGFLT4:1:2297:51530:7137,LH00995:48:23YTGFLT4:1:2297:5919:5120,LH00995:48:23YTGFLT4:1:2301:45592:21094,LH00995:48:23YTGFLT4:1:2310:42089:27021,LH00995:48:23YTGFLT4:1:2312:4414:4279,LH00995:48:23YTGFLT4:1:2313:48699:21906,LH00995:48:23YTGFLT4:1:2313:48901:27806,LH00995:48:23YTGFLT4:1:2318:42930:23434,LH00995:48:23YTGFLT4:1:2319:36547:3494,LH00995:48:23YTGFLT4:1:2319:43756:3929,LH00995:48:23YTGFLT4:1:2323:29266:24513,LH00995:48:23YTGFLT4:1:2324:5126:6969,LH00995:48:23YTGFLT4:1:2325:33967:5050,LH00995:48:23YTGFLT4:1:2330:20060:24709,LH00995:48:23YTGFLT4:1:2330:36458:7179,LH00995:48:23YTGFLT4:1:2331:9406:14158,LH00995:48:23YTGFLT4:1:2334:22091:14101,LH00995:48:23YTGFLT4:1:2346:50891:29151,LH00995:48:23YTGFLT4:1:2347:30561:27427,LH00995:48:23YTGFLT4:1:2349:32106:23826,LH00995:48:23YTGFLT4:1:2350:25497:3802,LH00995:48:23YTGFLT4:1:2357:34323:29179,LH00995:48:23YTGFLT4:1:2359:39492:25914,LH00995:48:23YTGFLT4:1:2359:49605:26671,LH00995:48:23YTGFLT4:1:2363:32187:6030,LH00995:48:23YTGFLT4:1:2365:15408:18137,LH00995:48:23YTGFLT4:1:2366:37340:15152,LH00995:48:23YTGFLT4:1:2372:7868:14970,LH00995:48:23YTGFLT4:1:2373:36216:28058,LH00995:48:23YTGFLT4:1:2374:22843:9211,LH00995:48:23YTGFLT4:1:2391:21799:10150,LH00995:48:23YTGFLT4:1:2401:14899:8679,LH00995:48:23YTGFLT4:1:2403:42405:16946,LH00995:48:23YTGFLT4:1:2405:39347:12686,LH00995:48:23YTGFLT4:1:2407:34169:5904,LH00995:48:23YTGFLT4:1:2409:30529:26586,LH00995:48:23YTGFLT4:1:2422:39266:4867,LH00995:48:23YTGFLT4:1:2422:46514:11341,LH00995:48:23YTGFLT4:1:2425:40536:23097,LH00995:48:23YTGFLT4:1:2426:25812:27217,LH00995:48:23YTGFLT4:1:2432:35860:9197,LH00995:48:23YTGFLT4:1:2439:7068:12938,LH00995:48:23YTGFLT4:1:2441:45155:24849

TATDN1

NSMCE2

-/-

+/+

chr8:124538928

chr8:125357219

CDS/splice-site

inversion

444

6010

medium

TatD_related_DNase(0%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000147687.19

ENSG00000156831.8

ENST00000519232.5

ENST00000287437.8

upstream

duplicates(4)

TTCCACGCCCTTGGGTCTTTCTGACTTGTCCCGGGCGTCGGTCACCAAGGTCACAGGACCCAGGAATTGCGCCCTCCGGCATT|GTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTCACCTGCCCCATTACAAAG___GAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGGACGCCATTGTTCGCATGATTGAGTCCAGGCAAAAGCGGA

LH00995:48:23YTGFLT4:1:2190:20715:1659,LH00995:48:23YTGFLT4:3:1326:10037:11775,LH00995:48:23YTGFLT4:3:1341:32203:3368,LH00995:48:23YTGFLT4:4:1339:6841:10725,LH00995:48:23YTGFLT4:1:2105:17609:24891,LH00995:48:23YTGFLT4:1:2127:40948:6717,LH00995:48:23YTGFLT4:1:2447:44298:23896,LH00995:48:23YTGFLT4:2:2152:13208:25816,LH00995:48:23YTGFLT4:2:2389:30108:29725,LH00995:48:23YTGFLT4:2:2488:1170:25816,LH00995:48:23YTGFLT4:3:1212:24307:3844,LH00995:48:23YTGFLT4:3:1380:37041:14914,LH00995:48:23YTGFLT4:3:2226:6744:27231,LH00995:48:23YTGFLT4:3:2415:19745:27806,LH00995:48:23YTGFLT4:4:1146:33619:25662,LH00995:48:23YTGFLT4:4:1240:11323:6661,LH00995:48:23YTGFLT4:4:1338:10611:15937,LH00995:48:23YTGFLT4:4:2363:29582:27273,LH00995:48:23YTGFLT4:5:1387:4018:16680

TATDN1

NSMCE2

-/-

+/+

chr8:124538331

chr8:125357219

exon/splice-site

CDS/splice-site

inversion

6010

low

TatD_related_DNase(0%)|Zinc-finger_of_the_MIZ_type_in_Nse_subunit(100%)

ENSG00000147687.19

ENSG00000156831.8

ENST00000521546.5

ENST00000287437.8

upstream

CTCGTTTTGTGGGGTTTCCAGCTACCTGAAGGTGGGAAATGACAGTGATCACACCTCTGCTTTAGCAAG|GTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTCACCTGCCCCATTACAAAG___GAGGAAATGAAG

LH00995:48:23YTGFLT4:3:2459:32413:3368

ATAD2

AL365295.1(33172),AL138479.1(358)

-/-

./-

chr8:123325893

chr14:53916912

CDS/splice-site

intergenic

translocation

192

2315

high

out-of-frame

AAA+_lid_domain(100%),ATPase_family_associated_with_various_cellular_activities_(AAA)(100%),Bromodomain(100%)|

ENSG00000156802.13

ENST00000521903.5

upstream

downstream

duplicates(94),mismatches(2)

CATGTACAGAATTGAGAGACAAGATTGCTTGTAATGGAGATGCTTCTAGCTCTCAGATAATACATATTTCTGATGAAAATGAAGGAAAAG___AAATGTGTGTTCTGCGAATGACTCGAGCTAGACGTTCCCAGGTAGAACAGCAGCAGCTCATCACTGTTGAAAAGGCTTTGGCAATTCTTTCTCAGCCTACACCCTCACTTGTTGTGGATCATGAGCGATTAAAA|GTATTATCTCAATGATCAAAAGCCTACAAACTTACCCCAAGAAATAGATTTCTGTTGTTTGCTGCGCTACACCTGAGGACTCAAGAGTGTGCTCCTGGGTCCAGGGCCTGCAAAGGCAGCATTTTCCCCT

CTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLK|vlsq*

LH00995:48:23YTGFLT4:1:1104:14057:21766,LH00995:48:23YTGFLT4:1:1110:43019:9772,LH00995:48:23YTGFLT4:1:1114:12156:23490,LH00995:48:23YTGFLT4:1:1120:49750:26614,LH00995:48:23YTGFLT4:1:1131:7642:17689,LH00995:48:23YTGFLT4:1:1195:44451:20603,LH00995:48:23YTGFLT4:1:1201:28053:17394,LH00995:48:23YTGFLT4:1:1219:18847:10528,LH00995:48:23YTGFLT4:1:1224:29088:13583,LH00995:48:23YTGFLT4:1:1225:18596:14774,LH00995:48:23YTGFLT4:1:1225:18612:14774,LH00995:48:23YTGFLT4:1:1282:12884:19762,LH00995:48:23YTGFLT4:1:1302:47704:29151,LH00995:48:23YTGFLT4:1:1302:47712:29137,LH00995:48:23YTGFLT4:1:1304:49645:13121,LH00995:48:23YTGFLT4:1:1319:45600:20463,LH00995:48:23YTGFLT4:1:1335:17843:10753,LH00995:48:23YTGFLT4:1:1348:3217:13835,LH00995:48:23YTGFLT4:1:1368:10384:12630,LH00995:48:23YTGFLT4:1:1369:40552:5330,LH00995:48:23YTGFLT4:1:1375:31305:12966,LH00995:48:23YTGFLT4:1:1385:6962:27245,LH00995:48:23YTGFLT4:1:1385:6970:27231,LH00995:48:23YTGFLT4:1:1406:15012:5232,LH00995:48:23YTGFLT4:1:1413:7334:26600,LH00995:48:23YTGFLT4:1:1413:7343:26586,LH00995:48:23YTGFLT4:1:1421:12544:26152,LH00995:48:23YTGFLT4:1:1443:7294:7446,LH00995:48:23YTGFLT4:1:1494:6493:20996,LH00995:48:23YTGFLT4:1:2102:13912:14144,LH00995:48:23YTGFLT4:1:2126:32591:4097,LH00995:48:23YTGFLT4:1:2128:2383:24527,LH00995:48:23YTGFLT4:1:2160:42397:18978,LH00995:48:23YTGFLT4:1:2171:28943:25325,LH00995:48:23YTGFLT4:1:2180:23539:15096,LH00995:48:23YTGFLT4:1:2192:49500:17997,LH00995:48:23YTGFLT4:1:2214:2529:23546,LH00995:48:23YTGFLT4:1:2239:38999:14914,LH00995:48:23YTGFLT4:1:2251:30480:12322,LH00995:48:23YTGFLT4:1:2256:33449:7011,LH00995:48:23YTGFLT4:1:2286:49184:28660,LH00995:48:23YTGFLT4:1:2289:6752:6815,LH00995:48:23YTGFLT4:1:2314:3751:8034,LH00995:48:23YTGFLT4:1:2314:38400:27049,LH00995:48:23YTGFLT4:1:2349:24590:20673,LH00995:48:23YTGFLT4:1:2386:30812:3676,LH00995:48:23YTGFLT4:1:2406:49022:8258,LH00995:48:23YTGFLT4:1:2420:20796:9253,LH00995:48:23YTGFLT4:1:2420:20804:9239,LH00995:48:23YTGFLT4:1:2420:20804:9267,LH00995:48:23YTGFLT4:1:2420:24510:7950,LH00995:48:23YTGFLT4:1:2420:24526:7950,LH00995:48:23YTGFLT4:1:2425:3783:9015,LH00995:48:23YTGFLT4:1:2427:44322:28058,LH00995:48:23YTGFLT4:1:2467:26702:5274,LH00995:48:23YTGFLT4:1:2467:45042:18319,LH00995:48:23YTGFLT4:1:2472:31151:20659,LH00995:48:23YTGFLT4:2:1105:18855:4069,LH00995:48:23YTGFLT4:2:1105:18863:4083,LH00995:48:23YTGFLT4:2:1106:32405:25746,LH00995:48:23YTGFLT4:2:1108:11865:4881,LH00995:48:23YTGFLT4:2:1123:3540:25830,LH00995:48:23YTGFLT4:2:1123:3556:25830,LH00995:48:23YTGFLT4:2:1141:1760:12995,LH00995:48:23YTGFLT4:2:1152:44427:2653,LH00995:48:23YTGFLT4:2:1168:36410:10234,LH00995:48:23YTGFLT4:2:1172:7027:18081,LH00995:48:23YTGFLT4:2:1172:7035:18067,LH00995:48:23YTGFLT4:2:1172:7043:18081,LH00995:48:23YTGFLT4:2:1175:8572:28660,LH00995:48:23YTGFLT4:2:1175:8580:28674,LH00995:48:23YTGFLT4:2:1180:29542:11313,LH00995:48:23YTGFLT4:2:1180:30043:15769,LH00995:48:23YTGFLT4:2:1196:43667:27287,LH00995:48:23YTGFLT4:2:1213:22398:23966,LH00995:48:23YTGFLT4:2:1213:22406:23980,LH00995:48:23YTGFLT4:2:1215:51846:5918,LH00995:48:23YTGFLT4:2:1231:31224:15236,LH00995:48:23YTGFLT4:2:1256:4147:28226,LH00995:48:23YTGFLT4:2:1263:9478:12854,LH00995:48:23YTGFLT4:2:1264:19923:13793,LH00995:48:23YTGFLT4:2:1264:19939:13793,LH00995:48:23YTGFLT4:2:1275:31410:5918,LH00995:48:23YTGFLT4:2:1285:35730:10711,LH00995:48:23YTGFLT4:2:1344:19591:9267,LH00995:48:23YTGFLT4:2:1352:8022:15040,LH00995:48:23YTGFLT4:2:1355:48585:23223,LH00995:48:23YTGFLT4:2:1382:21597:17030,LH00995:48:23YTGFLT4:2:1385:50292:23714,LH00995:48:23YTGFLT4:2:1394:45349:8707,LH00995:48:23YTGFLT4:2:1410:9616:27329,LH00995:48:23YTGFLT4:2:1427:10304:5708,LH00995:48:23YTGFLT4:2:1436:8936:10570,LH00995:48:23YTGFLT4:2:1436:8944:10584,LH00995:48:23YTGFLT4:2:1440:2675:26657,LH00995:48:23YTGFLT4:2:1446:40253:16077,LH00995:48:23YTGFLT4:2:1456:28919:10851,LH00995:48:23YTGFLT4:2:1458:40989:15699,LH00995:48:23YTGFLT4:2:1470:17593:6367,LH00995:48:23YTGFLT4:2:1479:29388:20295,LH00995:48:23YTGFLT4:2:2103:45091:1785,LH00995:48:23YTGFLT4:2:2126:4681:22481,LH00995:48:23YTGFLT4:2:2127:45705:5708,LH00995:48:23YTGFLT4:2:2139:5005:16736,LH00995:48:23YTGFLT4:2:2153:48076:5694,LH00995:48:23YTGFLT4:2:2172:34776:16343,LH00995:48:23YTGFLT4:2:2214:39792:27974,LH00995:48:23YTGFLT4:2:2218:40366:17478,LH00995:48:23YTGFLT4:2:2235:2036:9604,LH00995:48:23YTGFLT4:2:2261:24793:16736,LH00995:48:23YTGFLT4:2:2262:12423:8286,LH00995:48:23YTGFLT4:2:2270:26645:5232,LH00995:48:23YTGFLT4:2:2273:51247:11159,LH00995:48:23YTGFLT4:2:2293:49637:9547,LH00995:48:23YTGFLT4:2:2303:42210:9127,LH00995:48:23YTGFLT4:2:2313:43238:11944,LH00995:48:23YTGFLT4:2:2315:11833:6647,LH00995:48:23YTGFLT4:2:2344:30334:3298,LH00995:48:23YTGFLT4:2:2366:12334:11495,LH00995:48:23YTGFLT4:2:2369:23458:25269,LH00995:48:23YTGFLT4:2:2369:23466:25283,LH00995:48:23YTGFLT4:2:2376:21977:12056,LH00995:48:23YTGFLT4:2:2410:27163:14396,LH00995:48:23YTGFLT4:2:2410:40342:9870,LH00995:48:23YTGFLT4:2:2430:31410:29627,LH00995:48:23YTGFLT4:2:2472:44605:26530,LH00995:48:23YTGFLT4:2:2474:24493:1140,LH00995:48:23YTGFLT4:3:1106:22374:25662,LH00995:48:23YTGFLT4:3:1106:22382:25648,LH00995:48:23YTGFLT4:3:1115:12002:26671,LH00995:48:23YTGFLT4:3:1120:4196:15026,LH00995:48:23YTGFLT4:3:1124:42065:12938,LH00995:48:23YTGFLT4:3:1166:39670:2794,LH00995:48:23YTGFLT4:3:1169:3993:8146,LH00995:48:23YTGFLT4:3:1169:4009:8146,LH00995:48:23YTGFLT4:3:1175:2966:13765,LH00995:48:23YTGFLT4:3:1180:16784:16231,LH00995:48:23YTGFLT4:3:1187:48974:21262,LH00995:48:23YTGFLT4:3:1229:16500:28016,LH00995:48:23YTGFLT4:3:1229:16509:28002,LH00995:48:23YTGFLT4:3:1233:28360:15713,LH00995:48:23YTGFLT4:3:1248:14179:6815,LH00995:48:23YTGFLT4:3:1290:49516:23546,LH00995:48:23YTGFLT4:3:1297:22277:10164,LH00995:48:23YTGFLT4:3:1298:47590:27525,LH00995:48:23YTGFLT4:3:1298:47598:27511,LH00995:48:23YTGFLT4:3:1298:47606:27525,LH00995:48:23YTGFLT4:3:1349:38918:12840,LH00995:48:23YTGFLT4:3:1360:43828:18796,LH00995:48:23YTGFLT4:3:1374:34185:18067,LH00995:48:23YTGFLT4:3:1374:34201:18067,LH00995:48:23YTGFLT4:3:1374:34209:18081,LH00995:48:23YTGFLT4:3:1387:41515:16862,LH00995:48:23YTGFLT4:3:1393:39072:12490,LH00995:48:23YTGFLT4:3:1394:13054:29165,LH00995:48:23YTGFLT4:3:1417:31791:5456,LH00995:48:23YTGFLT4:3:1422:48682:6269,LH00995:48:23YTGFLT4:3:1430:37664:11958,LH00995:48:23YTGFLT4:3:1430:37672:11972,LH00995:48:23YTGFLT4:3:1440:36717:14354,LH00995:48:23YTGFLT4:3:1481:7254:1771,LH00995:48:23YTGFLT4:3:1484:46506:15475,LH00995:48:23YTGFLT4:3:1496:31807:4923,LH00995:48:23YTGFLT4:3:2128:9179:5946,LH00995:48:23YTGFLT4:3:2174:31782:6255,LH00995:48:23YTGFLT4:3:2183:34201:2850,LH00995:48:23YTGFLT4:3:2186:6291:14284,LH00995:48:23YTGFLT4:3:2188:6380:6199,LH00995:48:23YTGFLT4:3:2190:34978:8651,LH00995:48:23YTGFLT4:3:2217:22447:11327,LH00995:48:23YTGFLT4:3:2219:38198:28772,LH00995:48:23YTGFLT4:3:2267:45673:15629,LH00995:48:23YTGFLT4:3:2271:6218:13653,LH00995:48:23YTGFLT4:3:2271:6234:13653,LH00995:48:23YTGFLT4:3:2274:14931:21290,LH00995:48:23YTGFLT4:3:2275:20456:10234,LH00995:48:23YTGFLT4:3:2290:26249:5666,LH00995:48:23YTGFLT4:3:2291:34072:4391,LH00995:48:23YTGFLT4:3:2292:8038:6997,LH00995:48:23YTGFLT4:3:2314:48019:12854,LH00995:48:23YTGFLT4:3:2318:13976:25606,LH00995:48:23YTGFLT4:3:2342:23183:29305,LH00995:48:23YTGFLT4:3:2346:15513:27848,LH00995:48:23YTGFLT4:3:2353:1906:14536,LH00995:48:23YTGFLT4:3:2364:35253:20982,LH00995:48:23YTGFLT4:3:2364:43812:3943,LH00995:48:23YTGFLT4:3:2365:46951:6913,LH00995:48:23YTGFLT4:3:2367:31532:4727,LH00995:48:23YTGFLT4:3:2367:51045:11509,LH00995:48:23YTGFLT4:3:2389:1227:17955,LH00995:48:23YTGFLT4:3:2408:45576:23980,LH00995:48:23YTGFLT4:3:2422:50398:17450,LH00995:48:23YTGFLT4:3:2430:42097:18347,LH00995:48:23YTGFLT4:3:2431:34638:2794,LH00995:48:23YTGFLT4:3:2451:23595:4237,LH00995:48:23YTGFLT4:3:2467:7796:11313,LH00995:48:23YTGFLT4:3:2480:4090:15769,LH00995:48:23YTGFLT4:3:2485:43667:2205,LH00995:48:23YTGFLT4:3:2497:17067:23055,LH00995:48:23YTGFLT4:4:1115:29048:3760,LH00995:48:23YTGFLT4:4:1117:22374:17142,LH00995:48:23YTGFLT4:4:1136:50033:3004,LH00995:48:23YTGFLT4:4:1184:27762:18179,LH00995:48:23YTGFLT4:4:1225:16355:12042,LH00995:48:23YTGFLT4:4:1237:51716:15138,LH00995:48:23YTGFLT4:4:1264:21905:25465,LH00995:48:23YTGFLT4:4:1279:41410:28506,LH00995:48:23YTGFLT4:4:1283:21249:22957,LH00995:48:23YTGFLT4:4:1285:12019:14144,LH00995:48:23YTGFLT4:4:1315:9907:25536,LH00995:48:23YTGFLT4:4:1322:29072:6493,LH00995:48:23YTGFLT4:4:1324:4754:26418,LH00995:48:23YTGFLT4:4:1327:18337:5106,LH00995:48:23YTGFLT4:4:1386:12108:23069,LH00995:48:23YTGFLT4:4:1386:12116:23055,LH00995:48:23YTGFLT4:4:1425:25933:3214,LH00995:48:23YTGFLT4:4:1448:30812:18557,LH00995:48:23YTGFLT4:4:1448:30820:18543,LH00995:48:23YTGFLT4:4:1448:30836:18543,LH00995:48:23YTGFLT4:4:1480:31580:16217,LH00995:48:23YTGFLT4:4:1485:13281:20337,LH00995:48:23YTGFLT4:4:1485:13289:20323,LH00995:48:23YTGFLT4:4:1488:38432:11355,LH00995:48:23YTGFLT4:4:1488:38449:11355,LH00995:48:23YTGFLT4:4:1497:48731:29025,LH00995:48:23YTGFLT4:4:2119:32842:5288,LH00995:48:23YTGFLT4:4:2121:41749:27245,LH00995:48:23YTGFLT4:4:2124:25335:8062,LH00995:48:23YTGFLT4:4:2138:44904:3228,LH00995:48:23YTGFLT4:4:2145:51045:24681,LH00995:48:23YTGFLT4:4:2160:49330:3802,LH00995:48:23YTGFLT4:4:2164:44419:16203,LH00995:48:23YTGFLT4:4:2165:35722:11789,LH00995:48:23YTGFLT4:4:2176:2934:13821,LH00995:48:23YTGFLT4:4:2210:33781:27063,LH00995:48:23YTGFLT4:4:2232:3257:12644,LH00995:48:23YTGFLT4:4:2237:32931:28562,LH00995:48:23YTGFLT4:4:2241:36887:19636,LH00995:48:23YTGFLT4:4:2269:39832:13835,LH00995:48:23YTGFLT4:4:2321:31863:6647,LH00995:48:23YTGFLT4:4:2325:12585:8623,LH00995:48:23YTGFLT4:4:2343:12819:7796,LH00995:48:23YTGFLT4:4:2360:28959:6661,LH00995:48:23YTGFLT4:4:2365:33044:8721,LH00995:48:23YTGFLT4:4:2365:33053:8707,LH00995:48:23YTGFLT4:4:2365:33061:8721,LH00995:48:23YTGFLT4:4:2397:42348:3844,LH00995:48:23YTGFLT4:4:2404:11930:4937,LH00995:48:23YTGFLT4:4:2428:34040:14424,LH00995:48:23YTGFLT4:4:2447:39484:14354,LH00995:48:23YTGFLT4:4:2486:14713:16624,LH00995:48:23YTGFLT4:4:2491:41879:10626,LH00995:48:23YTGFLT4:5:1153:31394:3985,LH00995:48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AL365295.1(31527),AL138479.1(2003)

ATAD2

./-

-/-

chr14:53915267

chr8:123349444

intergenic

CDS/splice-site

translocation

3216

low

|AAA+_lid_domain(100%),ATPase_family_associated_with_various_cellular_activities_(AAA)(36%),Bromodomain(100%)

ENSG00000156802.13

ENST00000287394.10

upstream

downstream

ATTTGAATCCCTGTTGTACCATGTTTCAGCTGTGGAACCTTGG|TTCTATTGTTTCCACCCTGCTAGCTCTTATGGATGGATTGGACAGCAGAGGGGAAATTGTGGTCATTGGTGCTACGAACAGGCTAGATTCTATAGATCCTGCTTTACGAAGGCCTGGTCGCTTTGATAGAG...CGAAAAGAGATTCTAAAGATTCACACCAGGGATTGGAATCCCAAACCACTGGACACATTTTTAGAAGAGCTAGCAGAAAACTGTGTTG___GATACTGTGGAGCAGATATTAAATCAATATGTGCTGAAGCTGCTTTATGTGCTTTACGACGAC

LH00995:48:23YTGFLT4:2:1312:9414:22579,LH00995:48:23YTGFLT4:2:2104:25124:27932

ATAD2

AL138479.1(8779),MIR5580(21895)

-/-

./-

chr8:123325893

chr14:53926532

CDS/splice-site

intergenic

translocation

155

2315

high

out-of-frame

AAA+_lid_domain(100%),ATPase_family_associated_with_various_cellular_activities_(AAA)(100%),Bromodomain(100%)|

ENSG00000156802.13

ENST00000521903.5

upstream

downstream

duplicates(101),mismappers(36),mismatches(7)

GAGACAAGATTGCTTGTAATGGAGATGCTTCTAGCTCTCAGATAATACATATTTCTGATGAAAATGAAGGAAAAG___AAATGTGTGTTCTGCGAATGACTCGAGCTAGACGTTCCCAGGTAGAACAGCAGCAGCTCATCACTGTTGAAAAGGCTTTGGCAATTCTTTCTCAGCCTACACCCTCACTTGTTGTGGATCATGAGCGATTAAAA|ACAGCTCCTCTGTCACCCAGGCTGGAATGCAATGGCATGATCATAGTTCACTACAGCCTCAAACTCTTGGACTCAAGCGATTCTTCCACCTCCACTTCCCAAGTGGCTAGGaCTACACGTGTATGCCACCATGCCAGGC

DKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLK|taplsprlecngmiivhyslklldssdsststsqvarttrvchhar

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DNM2

ADGRE4P

+/+

-/+

chr19:10830378

chr19:6994990

CDS/splice-site

intron

duplication/5'-5'

121

7105

high

out-of-frame

Dynamin_GTPase_effector_domain(100%),Dynamin_central_region(100%),Dynamin_family(100%),PH_domain(100%)|

ENSG00000079805.18

ENSG00000268758.7

ENST00000355667.11

downstream

upstream

duplicates(59),mismatches(2)

CCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAG|TTTCATGCTGATTCAGTGAGATGACCCTTCAGACCTGCCGGCACATGGTAAGTCCTGAATAAAGCTACCTGTGAAGAGAAGTGGG...___AGTCATGTTGCTC

PLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPs|fmliq*

LH00995:48:23YTGFLT4:1:1323:47129:8427,LH00995:48:23YTGFLT4:1:1351:47558:19931,LH00995:48:23YTGFLT4:1:1437:26734:22537,LH00995:48:23YTGFLT4:1:1464:6170:3592,LH00995:48:23YTGFLT4:1:2156:13451:5358,LH00995:48:23YTGFLT4:1:2204:43642:4853,LH00995:48:23YTGFLT4:1:2351:48893:19440,LH00995:48:23YTGFLT4:1:2371:49055:15993,LH00995:48:23YTGFLT4:2:1121:9236:7418,LH00995:48:23YTGFLT4:2:1142:42081:9884,LH00995:48:23YTGFLT4:2:1428:36175:14508,LH00995:48:23YTGFLT4:2:2172:10943:10851,LH00995:48:23YTGFLT4:2:2275:6946:11888,LH00995:48:23YTGFLT4:2:2303:15271:18880,LH00995:48:23YTGFLT4:2:2334:34962:7278,LH00995:48:23YTGFLT4:2:2361:31232:22453,LH00995:48:23YTGFLT4:2:2460:14915:27820,LH00995:48:23YTGFLT4:3:1166:42235:13569,LH00995:48:23YTGFLT4:3:1252:25852:1252,LH00995:48:23YTGFLT4:3:2208:12310:13219,LH00995:48:23YTGFLT4:3:2396:2448:26853,LH00995:48:23YTGFLT4:3:2412:48391:23167,LH00995:48:23YTGFLT4:3:2457:23652:19889,LH00995:48:23YTGFLT4:3:2490:17156:12336,LH00995:48:23YTGFLT4:4:1121:36491:18810,LH00995:48:23YTGFLT4:4:1261:16541:11832,LH00995:48:23YTGFLT4:4:1381:29695:20968,LH00995:48:23YTGFLT4:4:1447:10182:8637,LH00995:48:23YTGFLT4:4:1476:38813:25073,LH00995:48:23YTGFLT4:4:2107:44589:21934,LH00995:48:23YTGFLT4:4:2149:23094:10430,LH00995:48:23YTGFLT4:4:2157:26208:11173,LH00995:48:23YTGFLT4:4:2208:41013:8006,LH00995:48:23YTGFLT4:4:2210:24623:24597,LH00995:48:23YTGFLT4:4:2285:18830:24849,LH00995:48:23YTGFLT4:4:2304:49718:27007,LH00995:48:23YTGFLT4:4:2332:14947:14648,LH00995:48:23YTGFLT4:4:2448:37486:19776,LH00995:48:23YTGFLT4:5:1133:36960:13905,LH00995:48:23YTGFLT4:5:1238:10740:5960,LH00995:48:23YTGFLT4:1:1160:39444:16189,LH00995:48:23YTGFLT4:1:1172:48391:22187,LH00995:48:23YTGFLT4:1:1173:51619:5386,LH00995:48:23YTGFLT4:1:1173:9009:24344,LH00995:48:23YTGFLT4:1:1177:30318:29137,LH00995:48:23YTGFLT4:1:1191:23005:4643,LH00995:48:23YTGFLT4:1:1213:46579:6521,LH00995:48:23YTGFLT4:1:1213:46587:6535,LH00995:48:23YTGFLT4:1:1227:26896:25844,LH00995:48:23YTGFLT4:1:1234:31426:15783,LH00995:48:23YTGFLT4:1:1258:17374:22887,LH00995:48:23YTGFLT4:1:1320:39233:18796,LH00995:48:23YTGFLT4:1:1325:6016:27259,LH00995:48:23YTGFLT4:1:1343:30294:26909,LH00995:48:23YTGFLT4:1:1374:3289:11047,LH00995:48:23YTGFLT4:1:1376:48399:10486,LH00995:48:23YTGFLT4:1:1397:46943:15503,LH00995:48:23YTGFLT4:1:1405:42987:3102,LH00995:48:23YTGFLT4:1:1444:15497:2850,LH00995:48:23YTGFLT4:1:1446:18369:25507,LH00995:48:23YTGFLT4:1:1446:18385:25507,LH00995:48:23YTGFLT4:1:2184:35439:7460,LH00995:48:23YTGFLT4:1:2184:35447:7474,LH00995:48:23YTGFLT4:1:2230:10635:3592,LH00995:48:23YTGFLT4:1:2232:19275:3228,LH00995:48:23YTGFLT4:1:2264:46223:29109,LH00995:48:23YTGFLT4:1:2267:28126:28758,LH00995:48:23YTGFLT4:1:2286:36968:19468,LH00995:48:23YTGFLT4:1:2325:9956:21836,LH00995:48:23YTGFLT4:1:2357:27349:20407,LH00995:48:23YTGFLT4:1:2387:19340:17408,LH00995:48:23YTGFLT4:1:2387:20675:5344,LH00995:48:23YTGFLT4:1:2393:12690:4685,LH00995:48:23YTGFLT4:1:2403:50236:17058,LH00995:48:23YTGFLT4:1:2412:18895:3046,LH00995:48:23YTGFLT4:1:2447:11735:26432,LH00995:48:23YTGFLT4:1:2462:46789:5652,LH00995:48:23YTGFLT4:1:2472:3516:16960,LH00995:48:23YTGFLT4:1:2474:39290:18193,LH00995:48:23YTGFLT4:1:2474:39298:18179,LH00995:48:23YTGFLT4:2:1168:24469:7544,LH00995:48:23YTGFLT4:2:1169:15602:15138,LH00995:48:23YTGFLT4:2:1169:15619:15138,LH00995:48:23YTGFLT4:2:1195:32082:8959,LH00995:48:23YTGFLT4:2:1227:50349:4335,LH00995:48:23YTGFLT4:2:1247:41636:5946,LH00995:48:23YTGFLT4:2:1247:41644:5960,LH00995:48:23YTGFLT4:2:1254:43076:26713,LH00995:48:23YTGFLT4:2:1294:11234:19342,LH00995:48:23YTGFLT4:2:1330:42364:12672,LH00995:48:23YTGFLT4:2:1330:42388:12686,LH00995:48:23YTGFLT4:2:1366:37146:2205,LH00995:48:23YTGFLT4:2:1390:1680:11201,LH00995:48:23YTGFLT4:2:1408:12116:23308,LH00995:48:23YTGFLT4:2:1429:11396:4265,LH00995:48:23YTGFLT4:2:2118:13976:24457,LH00995:48:23YTGFLT4:2:2178:34056:10781,LH00995:48:23YTGFLT4:2:2237:37607:2583,LH00995:48:23YTGFLT4:2:2237:37615:2569,LH00995:48:23YTGFLT4:2:2263:23385:8300,LH00995:48:23YTGFLT4:2:2294:19728:19426,LH00995:48:23YTGFLT4:2:2308:24817:25914,LH00995:48:23YTGFLT4:2:2313:38740:24050,LH00995:48:23YTGFLT4:2:2326:5862:26180,LH00995:48:23YTGFLT4:2:2351:12116:23027,LH00995:48:23YTGFLT4:2:2351:1405:28436,LH00995:48:23YTGFLT4:2:2367:23660:22313,LH00995:48:23YTGFLT4:2:2390:51085:20491,LH00995:48:23YTGFLT4:2:2391:50487:17997,LH00995:48:23YTGFLT4:2:2414:32106:28983,LH00995:48:23YTGFLT4:2:2421:11727:9940,LH00995:48:23YTGFLT4:2:2421:25577:4671,LH00995:48:23YTGFLT4:2:2426:1299:14942,LH00995:48:23YTGFLT4:2:2432:24364:15152,LH00995:48:23YTGFLT4:2:2445:22964:9618,LH00995:48:23YTGFLT4:3:1130:4252:16750,LH00995:48:23YTGFLT4:3:1157:32996:27357,LH00995:48:23YTGFLT4:3:1206:21565:21962,LH00995:48:23YTGFLT4:3:1206:21581:21962,LH00995:48:23YTGFLT4:3:1206:21597:21962,LH00995:48:23YTGFLT4:3:1216:26742:13387,LH00995:48:23YTGFLT4:3:1227:12941:22831,LH00995:48:23YTGFLT4:3:1227:12957:22831,LH00995:48:23YTGFLT4:3:1241:6283:9870,LH00995:48:23YTGFLT4:3:1247:46474:28422,LH00995:48:23YTGFLT4:3:1260:29978:16778,LH00995:48:23YTGFLT4:3:1273:5458:20323,LH00995:48:23YTGFLT4:3:1287:47817:1266,LH00995:48:23YTGFLT4:3:1292:50996:14312,LH00995:48:23YTGFLT4:3:1293:13831:20561,LH00995:48:23YTGFLT4:3:1365:17277:8903,LH00995:48:23YTGFLT4:3:1393:8702:12630,LH00995:48:23YTGFLT4:3:1403:24866:18347,LH00995:48:23YTGFLT4:3:1428:24590:23896,LH00995:48:23YTGFLT4:3:1461:3184:19104,LH00995:48:23YTGFLT4:3:1461:3192:19090,LH00995:48:23YTGFLT4:3:1461:3192:19118,LH00995:48:23YTGFLT4:3:1463:14478:21542,LH00995:48:23YTGFLT4:3:1463:36693:22159,LH00995:48:23YTGFLT4:3:1497:8362:29585,LH00995:48:23YTGFLT4:3:2131:11226:2485,LH00995:48:23YTGFLT4:3:2147:20497:4363,LH00995:48:23YTGFLT4:3:2165:40738:7390,LH00995:48:23YTGFLT4:3:2165:40754:7390,LH00995:48:23YTGFLT4:3:2186:4147:9842,LH00995:48:23YTGFLT4:3:2203:17318:1154,LH00995:48:23YTGFLT4:3:2241:8758:2023,LH00995:48:23YTGFLT4:3:2241:8766:2009,LH00995:48:23YTGFLT4:3:2280:20740:18123,LH00995:48:23YTGFLT4:3:2296:45074:4419,LH00995:48:23YTGFLT4:3:2332:37195:14424,LH00995:48:23YTGFLT4:3:2407:50956:14858,LH00995:48:23YTGFLT4:3:2424:19356:23518,LH00995:48:23YTGFLT4:4:1120:13863:18235,LH00995:48:23YTGFLT4:4:1135:51465:17226,LH00995:48:23YTGFLT4:4:1137:11072:14886,LH00995:48:23YTGFLT4:4:1162:33142:29319,LH00995:48:23YTGFLT4:4:1172:5781:19342,LH00995:48:23YTGFLT4:4:1175:51506:6199,LH00995:48:23YTGFLT4:4:1176:47040:13709,LH00995:48:23YTGFLT4:4:1266:20343:16091,LH00995:48:23YTGFLT4:4:1288:47064:6801,LH00995:48:23YTGFLT4:4:1319:11962:21752,LH00995:48:23YTGFLT4:4:1339:42987:14003,LH00995:48:23YTGFLT4:4:1410:38222:19174,LH00995:48:23YTGFLT4:4:1432:34476:3326,LH00995:48:23YTGFLT4:4:1449:50033:24190,LH00995:48:23YTGFLT4:4:1470:30666:20127,LH00995:48:23YTGFLT4:4:1470:8807:8384,LH00995:48:23YTGFLT4:4:1470:8815:8370,LH00995:48:23YTGFLT4:4:1470:8831:8370,LH00995:48:23YTGFLT4:4:2105:12642:16988,LH00995:48:23YTGFLT4:4:2110:16460:4097,LH00995:48:23YTGFLT4:4:2132:33093:11355,LH00995:48:23YTGFLT4:4:2149:43181:29361,LH00995:48:23YTGFLT4:4:2153:6550:7109,LH00995:48:23YTGFLT4:4:2166:40479:29725,LH00995:48:23YTGFLT4:4:2173:39460:19580,LH00995:48:23YTGFLT4:4:2173:39468:19594,LH00995:48:23YTGFLT4:4:2178:50195:20996,LH00995:48:23YTGFLT4:4:2179:35188:17338,LH00995:48:23YTGFLT4:4:2198:37898:15783,LH00995:48:23YTGFLT4:4:2239:5425:7432,LH00995:48:23YTGFLT4:4:2260:43990:10893,LH00995:48:23YTGFLT4:4:2270:46676:20757,LH00995:48:23YTGFLT4:4:2311:39557:24597,LH00995:48:23YTGFLT4:4:2321:27414:20883,LH00995:48:23YTGFLT4:4:2327:14130:29179,LH00995:48:23YTGFLT4:4:2353:5126:14564,LH00995:48:23YTGFLT4:4:2354:43117:2794,LH00995:48:23YTGFLT4:4:2360:9794:18165,LH00995:48:23YTGFLT4:4:2376:35318:1476,LH00995:48:23YTGFLT4:4:2381:36855:28772,LH00995:48:23YTGFLT4:4:2381:36863:28786,LH00995:48:23YTGFLT4:4:2381:36871:28800,LH00995:48:23YTGFLT4:4:2387:8944:9435,LH00995:48:23YTGFLT4:4:2387:8961:9435,LH00995:48:23YTGFLT4:4:2409:29250:20337,LH00995:48:23YTGFLT4:4:2488:35091:24849,LH00995:48:23YTGFLT4:5:1104:30294:1883,LH00995:48:23YTGFLT4:5:1104:30310:1883,LH00995:48:23YTGFLT4:5:1107:50559:11453,LH00995:48:23YTGFLT4:5:1130:7739:16456,LH00995:48:23YTGFLT4:5:1172:10077:1953,LH00995:48:23YTGFLT4:5:1180:29922:7908,LH00995:48:23YTGFLT4:5:1183:34023:14003,LH00995:48:23YTGFLT4:5:1189:11557:8833,LH00995:48:23YTGFLT4:5:1204:30294:6367,LH00995:48:23YTGFLT4:5:1208:8208:20771,LH00995:48:23YTGFLT4:5:1223:28975:5260,LH00995:48:23YTGFLT4:5:1267:36839:19833,LH00995:48:23YTGFLT4:5:1277:14777:22509,LH00995:48:23YTGFLT4:5:1317:15012:26390,LH00995:48:23YTGFLT4:5:1334:23935:19398,LH00995:48:23YTGFLT4:5:1341:22018:25353,LH00995:48:23YTGFLT4:5:1353:39428:2317,LH00995:48:23YTGFLT4:5:1387:18620:26755,LH00995:48:23YTGFLT4:4:1108:29792:21584

NDUFA9

AC024255.1(93706),AC012150.1(70578)

+/+

./-

chr12:4682300

chr12:29072391

CDS/splice-site

intergenic

inversion

5271

high

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENST00000266544.10

downstream

duplicates(31)

TGGAAGACAGTTAAACAACCAGTATAT___GTCGTAGATGTATCCAAAGGAATTGTTAATGCAGTTAAGGATCCTGATGCCAATGGGAAATCCTTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|GATCATAATATTTGACCTGAAAAGGATGATAGAAGAGATATTTATTGCAGAATTTTGCAGCTATATTTTTAACATACACATGGAATTTCTCC

WKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|iiifdlkrmieeifiaefcsyifnihmefl

LH00995:48:23YTGFLT4:1:1137:39978:4783,LH00995:48:23YTGFLT4:1:1142:9114:16428,LH00995:48:23YTGFLT4:1:1186:47218:3676,LH00995:48:23YTGFLT4:1:1186:47234:3676,LH00995:48:23YTGFLT4:1:1263:3395:17927,LH00995:48:23YTGFLT4:1:1467:39031:16400,LH00995:48:23YTGFLT4:1:1472:36232:26404,LH00995:48:23YTGFLT4:1:2102:33303:10150,LH00995:48:23YTGFLT4:1:2109:23879:24232,LH00995:48:23YTGFLT4:1:2142:47906:29221,LH00995:48:23YTGFLT4:1:2168:6970:25437,LH00995:48:23YTGFLT4:1:2174:45455:29207,LH00995:48:23YTGFLT4:1:2182:29064:27497,LH00995:48:23YTGFLT4:1:2236:14348:21430,LH00995:48:23YTGFLT4:1:2290:50681:12784,LH00995:48:23YTGFLT4:1:2308:22932:15166,LH00995:48:23YTGFLT4:1:2312:49524:28184,LH00995:48:23YTGFLT4:1:2372:17326:15937,LH00995:48:23YTGFLT4:1:2398:14235:24457,LH00995:48:23YTGFLT4:1:2418:38028:16147,LH00995:48:23YTGFLT4:1:2424:19356:10150,LH00995:48:23YTGFLT4:1:2424:45163:27105,LH00995:48:23YTGFLT4:1:2446:14138:2317,LH00995:48:23YTGFLT4:1:2458:15012:20253,LH00995:48:23YTGFLT4:1:2469:50300:16329,LH00995:48:23YTGFLT4:2:1120:14130:6675,LH00995:48:23YTGFLT4:2:1251:20885:29165,LH00995:48:23YTGFLT4:2:1274:14041:12574,LH00995:48:23YTGFLT4:2:1387:49985:28226,LH00995:48:23YTGFLT4:2:1426:22964:5050,LH00995:48:23YTGFLT4:2:1430:41507:11439,LH00995:48:23YTGFLT4:2:1456:29315:12714,LH00995:48:23YTGFLT4:2:1456:29323:12728,LH00995:48:23YTGFLT4:2:1476:49605:6016,LH00995:48:23YTGFLT4:2:2118:27826:26895,LH00995:48:23YTGFLT4:2:2137:9575:5344,LH00995:48:23YTGFLT4:2:2188:2626:9674,LH00995:48:23YTGFLT4:2:2203:40835:8931,LH00995:48:23YTGFLT4:2:2212:3443:12266,LH00995:48:23YTGFLT4:2:2221:28134:1925,LH00995:48:23YTGFLT4:2:2227:36928:26937,LH00995:48:23YTGFLT4:2:2250:25545:17955,LH00995:48:23YTGFLT4:2:2257:33837:15194,LH00995:48:23YTGFLT4:2:2284:17593:16428,LH00995:48:23YTGFLT4:2:2421:40916:20337,LH00995:48:23YTGFLT4:2:2436:41499:20085,LH00995:48:23YTGFLT4:2:2445:38343:18571,LH00995:48:23YTGFLT4:2:2460:40908:19370,LH00995:48:23YTGFLT4:2:2460:40916:19356,LH00995:48:23YTGFLT4:3:1167:45900:10360,LH00995:48:23YTGFLT4:3:1198:26621:29487,LH00995:48:23YTGFLT4:3:1250:40520:27749,LH00995:48:23YTGFLT4:3:1324:41264:11383,LH00995:48:23YTGFLT4:3:1372:48496:28562,LH00995:48:23YTGFLT4:3:1494:1121:22060,LH00995:48:23YTGFLT4:3:1494:1129:22046,LH00995:48:23YTGFLT4:3:2195:24857:5470,LH00995:48:23YTGFLT4:3:2196:19130:8272,LH00995:48:23YTGFLT4:3:2309:46102:9085,LH00995:48:23YTGFLT4:3:2408:14316:19776,LH00995:48:23YTGFLT4:3:2465:52105:16540,LH00995:48:23YTGFLT4:3:2480:12318:20463,LH00995:48:23YTGFLT4:4:1122:28943:22327,LH00995:48:23YTGFLT4:4:1144:6008:10795,LH00995:48:23YTGFLT4:4:1146:50576:3046,LH00995:48:23YTGFLT4:4:1170:13313:8735,LH00995:48:23YTGFLT4:4:1180:20230:14606,LH00995:48:23YTGFLT4:4:1237:46458:21192,LH00995:48:23YTGFLT4:4:1253:26378:23938,LH00995:48:23YTGFLT4:4:1357:33311:29529,LH00995:48:23YTGFLT4:4:1378:50090:17478,LH00995:48:23YTGFLT4:4:1454:33724:22649,LH00995:48:23YTGFLT4:4:1466:39945:14592,LH00995:48:23YTGFLT4:4:1480:44710:22705,LH00995:48:23YTGFLT4:4:1480:44718:22691,LH00995:48:23YTGFLT4:4:1480:44726:22677,LH00995:48:23YTGFLT4:4:2120:19583:28394,LH00995:48:23YTGFLT4:4:2127:39104:9940,LH00995:48:23YTGFLT4:4:2194:4608:24653,LH00995:48:23YTGFLT4:4:2219:2828:6493,LH00995:48:23YTGFLT4:4:2242:29177:5862,LH00995:48:23YTGFLT4:4:2256:34266:14116,LH00995:48:23YTGFLT4:4:2329:26718:11075,LH00995:48:23YTGFLT4:4:2413:23879:28604,LH00995:48:23YTGFLT4:4:2413:23887:28618,LH00995:48:23YTGFLT4:4:2440:14049:3480,LH00995:48:23YTGFLT4:4:2462:18086:5596,LH00995:48:23YTGFLT4:4:2466:49661:13093,LH00995:48:23YTGFLT4:5:1115:50317:5316,LH00995:48:23YTGFLT4:5:1115:50325:5302,LH00995:48:23YTGFLT4:5:1115:50341:5302,LH00995:48:23YTGFLT4:5:1162:44840:27581,LH00995:48:23YTGFLT4:5:1178:1526:16428,LH00995:48:23YTGFLT4:5:1233:21573:5442,LH00995:48:23YTGFLT4:5:1279:40617:1182,LH00995:48:23YTGFLT4:5:1279:40625:1168,LH00995:48:23YTGFLT4:5:1281:36078:5204,LH00995:48:23YTGFLT4:5:1348:14009:13135,LH00995:48:23YTGFLT4:5:1348:14017:13149,LH00995:48:23YTGFLT4:5:1351:2432:26124,LH00995:48:23YTGFLT4:1:1396:13337:25199,LH00995:48:23YTGFLT4:1:2317:26993:24975,LH00995:48:23YTGFLT4:2:1391:14899:12546,LH00995:48:23YTGFLT4:2:1446:37567:23252,LH00995:48:23YTGFLT4:2:1456:14421:4013,LH00995:48:23YTGFLT4:2:1476:18952:28786,LH00995:48:23YTGFLT4:2:1488:1146:21234,LH00995:48:23YTGFLT4:3:1173:3095:27777,LH00995:48:23YTGFLT4:3:1383:34266:17899,LH00995:48:23YTGFLT4:3:1404:33522:29641,LH00995:48:23YTGFLT4:3:2194:11800:9758,LH00995:48:23YTGFLT4:3:2219:18151:15208,LH00995:48:23YTGFLT4:3:2489:41515:8735,LH00995:48:23YTGFLT4:4:1205:30747:17633,LH00995:48:23YTGFLT4:4:1260:14640:16974,LH00995:48:23YTGFLT4:4:1278:6849:20883,LH00995:48:23YTGFLT4:4:1284:40633:1967,LH00995:48:23YTGFLT4:4:1438:21953:22607,LH00995:48:23YTGFLT4:4:1473:42113:13163,LH00995:48:23YTGFLT4:4:2475:17851:19903,LH00995:48:23YTGFLT4:5:1387:27495:28142,LH00995:48:23YTGFLT4:1:1196:28182:25886,LH00995:48:23YTGFLT4:3:1233:49613:3340,LH00995:48:23YTGFLT4:5:1195:26759:11930,LH00995:48:23YTGFLT4:5:1195:26767:11916

PYGL

FRMD6

-/-

+/-

chr14:50908271

chr14:51719139

CDS/splice-site

intron

duplication/5'-5'

9523

high

out-of-frame

Carbohydrate_phosphorylase(94%)|

ENSG00000100504.17

ENSG00000139926.16

ENST00000532462.5

upstream

downstream

duplicates(26)

GCACTTCCAGAGCTGAAGCTGGTCATTGATCAAATTGACAATGGCTTTTTTTCTCCCAAGCAGCCTGACCTCTTCAAAGATATCATCAACATGCTATTTTATCATGACAG___GTTTAAAGTCTTTGCAGACTACGAAGCCTATGTCAAGTGTCAAGATAAAGTGAGTCAGCTGTACATG|GTCAGAAATGTAAAACAAGGAAGAAGTTTAGATTCCTTGCCTTTTTAATACTGGTGAGAAATAATACAATAAAACA

ALPELKLVIDQIDNGFFSPKQPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYM|vrnvkqgrsldslpf*

LH00995:48:23YTGFLT4:1:1164:39662:27497,LH00995:48:23YTGFLT4:1:1195:5611:9127,LH00995:48:23YTGFLT4:1:1205:22099:27119,LH00995:48:23YTGFLT4:1:1270:25966:7754,LH00995:48:23YTGFLT4:1:1276:8419:6703,LH00995:48:23YTGFLT4:1:1361:7788:28702,LH00995:48:23YTGFLT4:1:1398:35018:28002,LH00995:48:23YTGFLT4:1:1425:21969:8174,LH00995:48:23YTGFLT4:1:1425:37106:14550,LH00995:48:23YTGFLT4:1:1436:48585:5232,LH00995:48:23YTGFLT4:1:1469:12180:5876,LH00995:48:23YTGFLT4:1:1490:18280:23448,LH00995:48:23YTGFLT4:1:2165:13467:27665,LH00995:48:23YTGFLT4:1:2215:31726:1336,LH00995:48:23YTGFLT4:1:2274:6720:8973,LH00995:48:23YTGFLT4:1:2302:14826:20379,LH00995:48:23YTGFLT4:1:2324:15457:9477,LH00995:48:23YTGFLT4:1:2360:27301:7432,LH00995:48:23YTGFLT4:1:2377:2618:20253,LH00995:48:23YTGFLT4:1:2395:18612:8132,LH00995:48:23YTGFLT4:1:2395:18620:8146,LH00995:48:23YTGFLT4:1:2412:12366:19034,LH00995:48:23YTGFLT4:1:2437:14842:15054,LH00995:48:23YTGFLT4:1:2451:32624:14634,LH00995:48:23YTGFLT4:1:2455:10716:2920,LH00995:48:23YTGFLT4:1:2494:45042:25802,LH00995:48:23YTGFLT4:2:1149:5482:2037,LH00995:48:23YTGFLT4:2:1185:32745:7950,LH00995:48:23YTGFLT4:2:1231:31192:11341,LH00995:48:23YTGFLT4:2:1248:14729:27749,LH00995:48:23YTGFLT4:2:1281:9430:27007,LH00995:48:23YTGFLT4:2:1284:26362:25283,LH00995:48:23YTGFLT4:2:1295:2343:6605,LH00995:48:23YTGFLT4:2:1298:3031:27021,LH00995:48:23YTGFLT4:2:1298:3047:27021,LH00995:48:23YTGFLT4:2:1298:3063:27021,LH00995:48:23YTGFLT4:2:1314:3023:10584,LH00995:48:23YTGFLT4:2:1348:42696:1925,LH00995:48:23YTGFLT4:2:1430:5425:22425,LH00995:48:23YTGFLT4:2:1449:1437:25886,LH00995:48:23YTGFLT4:2:1449:1445:25872,LH00995:48:23YTGFLT4:2:1459:7318:15559,LH00995:48:23YTGFLT4:2:2129:29501:21108,LH00995:48:23YTGFLT4:2:2135:27309:7866,LH00995:48:23YTGFLT4:2:2148:27171:15755,LH00995:48:23YTGFLT4:2:2184:30124:19188,LH00995:48:23YTGFLT4:2:2194:10603:11047,LH00995:48:23YTGFLT4:2:2229:49678:7600,LH00995:48:23YTGFLT4:2:2231:39921:22285,LH00995:48:23YTGFLT4:2:2260:23296:21822,LH00995:48:23YTGFLT4:2:2277:36717:22649,LH00995:48:23YTGFLT4:2:2325:3152:10472,LH00995:48:23YTGFLT4:2:2360:32195:16245,LH00995:48:23YTGFLT4:2:2360:32203:16231,LH00995:48:23YTGFLT4:2:2370:4204:20757,LH00995:48:23YTGFLT4:2:2433:7051:5568,LH00995:48:23YTGFLT4:2:2479:4940:2415,LH00995:48:23YTGFLT4:2:2496:19421:21696,LH00995:48:23YTGFLT4:3:1169:17156:2836,LH00995:48:23YTGFLT4:3:1181:14009:12630,LH00995:48:23YTGFLT4:3:1266:19413:2625,LH00995:48:23YTGFLT4:3:1267:12803:14101,LH00995:48:23YTGFLT4:3:1280:35593:17086,LH00995:48:23YTGFLT4:3:1306:10708:16918,LH00995:48:23YTGFLT4:3:1326:20343:11411,LH00995:48:23YTGFLT4:3:1327:30011:23083,LH00995:48:23YTGFLT4:3:1340:27026:26292,LH00995:48:23YTGFLT4:3:1343:37122:7179,LH00995:48:23YTGFLT4:3:1352:27899:9954,LH00995:48:23YTGFLT4:3:1409:22123:18473,LH00995:48:23YTGFLT4:3:1495:5425:17941,LH00995:48:23YTGFLT4:3:2187:38481:21080,LH00995:48:23YTGFLT4:3:2291:34832:25606,LH00995:48:23YTGFLT4:3:2328:3718:20281,LH00995:48:23YTGFLT4:3:2352:41515:24877,LH00995:48:23YTGFLT4:3:2373:2950:15363,LH00995:48:23YTGFLT4:3:2378:9357:4097,LH00995:48:23YTGFLT4:3:2378:9365:4111,LH00995:48:23YTGFLT4:3:2419:12989:8006,LH00995:48:23YTGFLT4:3:2491:51134:27301,LH00995:48:23YTGFLT4:3:2492:10902:3382,LH00995:48:23YTGFLT4:4:1111:8378:8370,LH00995:48:23YTGFLT4:4:1302:23061:2331,LH00995:48:23YTGFLT4:4:1372:31880:28618,LH00995:48:23YTGFLT4:4:1374:50131:13009,LH00995:48:23YTGFLT4:4:1374:50139:12995,LH00995:48:23YTGFLT4:4:1374:50139:13023,LH00995:48:23YTGFLT4:4:1374:50147:13009,LH00995:48:23YTGFLT4:4:1382:29444:11733,LH00995:48:23YTGFLT4:4:1382:29461:11733,LH00995:48:23YTGFLT4:4:1383:30771:4111,LH00995:48:23YTGFLT4:4:1423:2715:25185,LH00995:48:23YTGFLT4:4:1423:2723:25171,LH00995:48:23YTGFLT4:4:1440:50179:17044,LH00995:48:23YTGFLT4:4:2113:50179:1995,LH00995:48:23YTGFLT4:4:2129:41102:18417,LH00995:48:23YTGFLT4:4:2141:16638:8945,LH00995:48:23YTGFLT4:4:2187:16517:26586,LH00995:48:23YTGFLT4:4:2335:3362:17058,LH00995:48:23YTGFLT4:4:2354:38699:5064,LH00995:48:23YTGFLT4:4:2354:38716:5064,LH00995:48:23YTGFLT4:4:2375:20408:17633,LH00995:48:23YTGFLT4:4:2428:51255:4923,LH00995:48:23YTGFLT4:4:2435:29210:29235,LH00995:48:23YTGFLT4:4:2493:10813:5274,LH00995:48:23YTGFLT4:4:2493:10821:5260,LH00995:48:23YTGFLT4:5:1156:27195:27259,LH00995:48:23YTGFLT4:5:1348:18515:12168,LH00995:48:23YTGFLT4:5:1374:23757:16147,LH00995:48:23YTGFLT4:5:1386:24404:27189,LH00995:48:23YTGFLT4:3:1224:33336:14354,LH00995:48:23YTGFLT4:4:1172:47356:13975,LH00995:48:23YTGFLT4:4:2225:45463:14200,LH00995:48:23YTGFLT4:4:2248:10837:27371,LH00995:48:23YTGFLT4:1:2460:42421:16918,LH00995:48:23YTGFLT4:1:2468:31693:12434,LH00995:48:23YTGFLT4:2:2487:49079:5134,LH00995:48:23YTGFLT4:3:2374:21549:8763,LH00995:48:23YTGFLT4:3:2374:21565:8763

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

548

234

high

stop-codon

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(20),mismappers(2)

GTAGAGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCA

LH00995:48:23YTGFLT4:1:1169:39525:4279,LH00995:48:23YTGFLT4:1:1185:16856:20729,LH00995:48:23YTGFLT4:1:1209:35205:9491,LH00995:48:23YTGFLT4:1:1238:35876:9674,LH00995:48:23YTGFLT4:1:1424:21864:19650,LH00995:48:23YTGFLT4:1:1449:33732:22046,LH00995:48:23YTGFLT4:1:1466:9592:16301,LH00995:48:23YTGFLT4:1:1466:9600:16315,LH00995:48:23YTGFLT4:1:2211:5069:24723,LH00995:48:23YTGFLT4:1:2320:34169:8174,LH00995:48:23YTGFLT4:1:2323:24340:19931,LH00995:48:23YTGFLT4:1:2330:26435:13835,LH00995:48:23YTGFLT4:1:2342:17924:24737,LH00995:48:23YTGFLT4:1:2386:34476:21598,LH00995:48:23YTGFLT4:1:2405:21686:9029,LH00995:48:23YTGFLT4:2:1208:43772:2079,LH00995:48:23YTGFLT4:2:1257:49767:17731,LH00995:48:23YTGFLT4:2:1293:14559:4447,LH00995:48:23YTGFLT4:2:1350:13531:11103,LH00995:48:23YTGFLT4:2:1417:47493:1967,LH00995:48:23YTGFLT4:2:2189:6809:22411,LH00995:48:23YTGFLT4:2:2208:45681:9057,LH00995:48:23YTGFLT4:2:2342:18871:3256,LH00995:48:23YTGFLT4:2:2387:17536:5540,LH00995:48:23YTGFLT4:2:2424:22333:19650,LH00995:48:23YTGFLT4:2:2427:33206:19286,LH00995:48:23YTGFLT4:2:2432:15295:17156,LH00995:48:23YTGFLT4:3:1133:39622:23364,LH00995:48:23YTGFLT4:3:1213:35334:19020,LH00995:48:23YTGFLT4:3:1306:40665:15531,LH00995:48:23YTGFLT4:3:1306:40673:15517,LH00995:48:23YTGFLT4:3:1452:24396:22523,LH00995:48:23YTGFLT4:3:2120:48958:20897,LH00995:48:23YTGFLT4:3:2196:47558:6759,LH00995:48:23YTGFLT4:3:2465:43675:17240,LH00995:48:23YTGFLT4:4:1122:12844:6577,LH00995:48:23YTGFLT4:4:1137:30181:29011,LH00995:48:23YTGFLT4:4:1159:44435:8833,LH00995:48:23YTGFLT4:4:1188:42372:7362,LH00995:48:23YTGFLT4:4:1221:15449:9463,LH00995:48:23YTGFLT4:4:1221:15465:9463,LH00995:48:23YTGFLT4:4:1345:44977:3494,LH00995:48:23YTGFLT4:4:1351:43206:28198,LH00995:48:23YTGFLT4:4:1378:20869:4279,LH00995:48:23YTGFLT4:4:2120:24202:11369,LH00995:48:23YTGFLT4:4:2239:30601:21136,LH00995:48:23YTGFLT4:4:2266:12585:15124,LH00995:48:23YTGFLT4:4:2266:12593:15110,LH00995:48:23YTGFLT4:4:2325:22091:15279,LH00995:48:23YTGFLT4:5:1123:4341:24947,LH00995:48:23YTGFLT4:5:1174:7318:20575,LH00995:48:23YTGFLT4:5:1288:46781:21024,LH00995:48:23YTGFLT4:5:1294:39419:26937,LH00995:48:23YTGFLT4:1:1127:51935:11958,LH00995:48:23YTGFLT4:1:1154:27309:14732,LH00995:48:23YTGFLT4:1:1236:24267:8959,LH00995:48:23YTGFLT4:1:1270:41596:14676,LH00995:48:23YTGFLT4:1:1273:37122:17717,LH00995:48:23YTGFLT4:1:1421:35221:19833,LH00995:48:23YTGFLT4:1:1421:35229:19847,LH00995:48:23YTGFLT4:1:2110:9729:20351,LH00995:48:23YTGFLT4:1:2121:25084:18754,LH00995:48:23YTGFLT4:1:2359:26548:14452,LH00995:48:23YTGFLT4:1:2422:15918:27763,LH00995:48:23YTGFLT4:2:1136:28563:20575,LH00995:48:23YTGFLT4:2:1343:25780:26713,LH00995:48:23YTGFLT4:2:1406:38942:1757,LH00995:48:23YTGFLT4:2:2240:48003:26502,LH00995:48:23YTGFLT4:2:2417:22471:14732,LH00995:48:23YTGFLT4:3:1105:38918:7179,LH00995:48:23YTGFLT4:3:1130:38068:13247,LH00995:48:23YTGFLT4:3:1137:26395:29627,LH00995:48:23YTGFLT4:3:1148:50090:12910,LH00995:48:23YTGFLT4:3:1218:23296:15349,LH00995:48:23YTGFLT4:3:1221:46870:20645,LH00995:48:23YTGFLT4:3:1321:19704:2850,LH00995:48:23YTGFLT4:3:1321:19720:2850,LH00995:48:23YTGFLT4:3:1321:19728:2864,LH00995:48:23YTGFLT4:3:2173:21290:21542,LH00995:48:23YTGFLT4:3:2331:45552:28478,LH00995:48:23YTGFLT4:4:1233:37073:6283,LH00995:48:23YTGFLT4:4:1285:49200:7978,LH00995:48:23YTGFLT4:4:1451:1801:9169,LH00995:48:23YTGFLT4:4:2115:20109:26138,LH00995:48:23YTGFLT4:4:2133:26678:8342,LH00995:48:23YTGFLT4:4:2269:46571:17885,LH00995:48:23YTGFLT4:4:2377:49491:14872,LH00995:48:23YTGFLT4:5:1122:37615:29669,LH00995:48:23YTGFLT4:5:1240:6752:8413,LH00995:48:23YTGFLT4:5:1249:10384:8006,LH00995:48:23YTGFLT4:5:1292:21581:5736,LH00995:48:23YTGFLT4:5:1312:26556:17520,LH00995:48:23YTGFLT4:5:1368:34096:27329,LH00995:48:23YTGFLT4:1:2303:10894:28394,LH00995:48:23YTGFLT4:2:2454:29024:2934,LH00995:48:23YTGFLT4:3:2278:3694:24443,LH00995:48:23YTGFLT4:4:1188:20893:21864,LH00995:48:23YTGFLT4:4:1414:29622:15124

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

547

234

high

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(8),low_entropy(1)

CAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCA

EAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1161:6178:26306,LH00995:48:23YTGFLT4:1:1186:51166:21164,LH00995:48:23YTGFLT4:1:1289:34209:13765,LH00995:48:23YTGFLT4:1:1490:14494:16189,LH00995:48:23YTGFLT4:1:2155:43262:25297,LH00995:48:23YTGFLT4:1:2258:37996:13149,LH00995:48:23YTGFLT4:1:2491:44322:4489,LH00995:48:23YTGFLT4:1:2491:44330:4503,LH00995:48:23YTGFLT4:2:1397:10975:25760,LH00995:48:23YTGFLT4:2:1490:7796:17983,LH00995:48:23YTGFLT4:2:1498:20173:13191,LH00995:48:23YTGFLT4:2:2253:29606:10304,LH00995:48:23YTGFLT4:2:2293:16209:23868,LH00995:48:23YTGFLT4:2:2488:3945:17422,LH00995:48:23YTGFLT4:3:1224:28975:12378,LH00995:48:23YTGFLT4:3:1374:40277:17997,LH00995:48:23YTGFLT4:3:2268:43505:21598,LH00995:48:23YTGFLT4:3:2280:32567:27175,LH00995:48:23YTGFLT4:3:2294:47218:1631,LH00995:48:23YTGFLT4:4:1118:51627:17787,LH00995:48:23YTGFLT4:4:1170:5053:14830,LH00995:48:23YTGFLT4:4:1325:30569:10739,LH00995:48:23YTGFLT4:4:1419:39622:11958,LH00995:48:23YTGFLT4:4:2126:3823:23798,LH00995:48:23YTGFLT4:4:2192:17722:5246,LH00995:48:23YTGFLT4:4:2292:13070:28268,LH00995:48:23YTGFLT4:4:2320:23741:9674,LH00995:48:23YTGFLT4:4:2458:1073:4461,LH00995:48:23YTGFLT4:5:1137:26492:15026,LH00995:48:23YTGFLT4:5:1181:47210:17338,LH00995:48:23YTGFLT4:5:1215:11881:15503,LH00995:48:23YTGFLT4:5:1215:11889:15517,LH00995:48:23YTGFLT4:5:1215:11897:15503,LH00995:48:23YTGFLT4:1:1185:35415:21486,LH00995:48:23YTGFLT4:1:1382:22309:17983,LH00995:48:23YTGFLT4:1:1391:23490:17478,LH00995:48:23YTGFLT4:2:1289:20400:27707,LH00995:48:23YTGFLT4:2:2107:5393:26544,LH00995:48:23YTGFLT4:2:2240:8863:5036,LH00995:48:23YTGFLT4:3:1436:49540:10136,LH00995:48:23YTGFLT4:3:1448:45196:1462,LH00995:48:23YTGFLT4:3:2284:47048:3242,LH00995:48:23YTGFLT4:3:2305:8516:10066,LH00995:48:23YTGFLT4:3:2340:3961:8342,LH00995:48:23YTGFLT4:3:2411:31726:7053,LH00995:48:23YTGFLT4:4:1163:20278:27441,LH00995:48:23YTGFLT4:4:2137:7375:22271,LH00995:48:23YTGFLT4:4:2206:38570:8342,LH00995:48:23YTGFLT4:4:2228:41329:28198,LH00995:48:23YTGFLT4:4:2303:2068:13247,LH00995:48:23YTGFLT4:5:1241:8928:28492,LH00995:48:23YTGFLT4:5:1348:49985:7460,LH00995:48:23YTGFLT4:3:2278:3694:24443

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

234

high

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

duplicates(7)

ACACACAGAGGAAGGACCGTGTGAAGACGAAGGGGGAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGA

LH00995:48:23YTGFLT4:1:1135:35738:9884,LH00995:48:23YTGFLT4:1:1376:9648:2695,LH00995:48:23YTGFLT4:1:1454:33708:11103,LH00995:48:23YTGFLT4:2:1251:25416:28156,LH00995:48:23YTGFLT4:2:1282:16169:16596,LH00995:48:23YTGFLT4:2:2211:45503:4573,LH00995:48:23YTGFLT4:3:1166:43028:12728,LH00995:48:23YTGFLT4:3:1166:43044:12728,LH00995:48:23YTGFLT4:3:1367:14389:2920,LH00995:48:23YTGFLT4:3:1432:49896:19776,LH00995:48:23YTGFLT4:3:1473:22673:17492,LH00995:48:23YTGFLT4:3:1473:22681:17506,LH00995:48:23YTGFLT4:3:2254:47396:21332,LH00995:48:23YTGFLT4:3:2278:41207:14396,LH00995:48:23YTGFLT4:4:1465:23304:7376,LH00995:48:23YTGFLT4:4:2239:6218:9225,LH00995:48:23YTGFLT4:5:1339:32527:8441,LH00995:48:23YTGFLT4:5:1379:47679:24036,LH00995:48:23YTGFLT4:5:1379:47687:24050,LH00995:48:23YTGFLT4:1:1256:28983:12028,LH00995:48:23YTGFLT4:1:1256:28991:12042,LH00995:48:23YTGFLT4:3:2278:3694:24443

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1879

234

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(7)

GTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAG

VKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1195:14357:22677,LH00995:48:23YTGFLT4:3:1303:25335:6801,LH00995:48:23YTGFLT4:1:2241:9438:13933,LH00995:48:23YTGFLT4:1:2294:11161:4195,LH00995:48:23YTGFLT4:1:2478:41232:3200,LH00995:48:23YTGFLT4:2:1313:7423:11453,LH00995:48:23YTGFLT4:3:1172:34056:8791,LH00995:48:23YTGFLT4:3:1172:34064:8805,LH00995:48:23YTGFLT4:3:1389:23919:20071,LH00995:48:23YTGFLT4:3:1389:23927:20057,LH00995:48:23YTGFLT4:3:1412:29177:12056,LH00995:48:23YTGFLT4:3:1412:29186:12070,LH00995:48:23YTGFLT4:3:1439:23490:11649,LH00995:48:23YTGFLT4:3:1439:23498:11635,LH00995:48:23YTGFLT4:3:2202:4155:2233,LH00995:48:23YTGFLT4:4:1237:25488:4433,LH00995:48:23YTGFLT4:4:1237:25497:4447,LH00995:48:23YTGFLT4:4:1237:25505:4433,LH00995:48:23YTGFLT4:4:2162:15853:12098,LH00995:48:23YTGFLT4:4:2303:31977:12588,LH00995:48:23YTGFLT4:5:1157:30359:7684,LH00995:48:23YTGFLT4:3:2278:3694:24443

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

547

371

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(4)

GGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAA

GKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:1459:50195:26068,LH00995:48:23YTGFLT4:3:2335:43011:15194,LH00995:48:23YTGFLT4:3:2335:51352:12406,LH00995:48:23YTGFLT4:4:1284:22471:24288,LH00995:48:23YTGFLT4:4:2283:7909:16189,LH00995:48:23YTGFLT4:4:2367:9219:4111,LH00995:48:23YTGFLT4:5:1392:35795:28618,LH00995:48:23YTGFLT4:1:2144:29177:18473,LH00995:48:23YTGFLT4:3:1369:27996:23266,LH00995:48:23YTGFLT4:3:1369:27996:23294,LH00995:48:23YTGFLT4:3:1369:28004:23280,LH00995:48:23YTGFLT4:3:2343:22252:12756,LH00995:48:23YTGFLT4:5:1281:25772:22383,LH00995:48:23YTGFLT4:5:1281:25788:22383

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

1879

371

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

GTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACT

SVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:2:1243:27681:3270,LH00995:48:23YTGFLT4:4:2209:47542:14914,LH00995:48:23YTGFLT4:4:2457:16476:8244

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15453085

CDS/splice-site

5'UTR/splice-site

deletion/read-through

547

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

CAATTATCTTGTTGTTGTCGTGTGACTTTTGGGCAGTGAAG___AATGTCACAGGTAGACTAATGGTTGGCCTACGTTGGTGGAATCACATTGATGAAGATGGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAACCCAGTGAAATGAGC

IILLLSCDFWAVKNVTGRLMVGLRWWNHIDEDGKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|epsem

LH00995:48:23YTGFLT4:2:1117:14179:19034,LH00995:48:23YTGFLT4:3:2278:3694:24443

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

371

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

GCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGCCCTCGAGGAAAGACCCTGGGCATCAAGGCAGAATAAACCTTCCA

LH00995:48:23YTGFLT4:2:1338:2909:25269

CNST

SMYD3

+/+

-/+

chr1:246591941

chr1:246504049

CDS/splice-site

intron

duplication/5'-5'

1326

high

out-of-frame

ENSG00000162852.14

ENSG00000185420.19

ENST00000366513.9

downstream

upstream

duplicates(23)

GGGAAAGCCCCAAGTGTCTGAGCAGGACAGTCTCAATAATAATGAAAGCTGCACATTGAGCTGCGAGGTGGCTGCAGGTGAGAACTcGCAAAACACCCTTTGTGAAGCCTCCAGAGATGAACAGGCCTTCTTGGGAAAGGACAAAAAAATTCCTGGAAAAAGAAGTCCAAGAAGCAAAAAAGGGACTGCTAAGAAGATACCACCAG|GCACAACACGGAAAAACCAGAAGCCATTCCTTAATGAGAGGAAAAAGGT...___GTTGCAGTGATTCCCAACCAGGCTCTTTGGAACACTATAACCACTAAAATGGGAGTGTTCAAACAGAGCA

GKPQVSEQDSLNNNESCTLSCEVAAGENsQNTLCEASRDEQAFLGKDKKIPGKRSPRSKKGTAKKIPP|gttrknqkpflnerkk

LH00995:48:23YTGFLT4:1:1197:33222:9870,LH00995:48:23YTGFLT4:1:1285:40212:27553,LH00995:48:23YTGFLT4:1:1285:40220:27539,LH00995:48:23YTGFLT4:2:1198:19146:29599,LH00995:48:23YTGFLT4:2:1198:19162:29599,LH00995:48:23YTGFLT4:3:2103:5983:8987,LH00995:48:23YTGFLT4:4:1324:8022:3270,LH00995:48:23YTGFLT4:1:1123:40859:16624,LH00995:48:23YTGFLT4:1:1123:40876:16624,LH00995:48:23YTGFLT4:1:1123:40884:16610,LH00995:48:23YTGFLT4:1:1123:40900:16610,LH00995:48:23YTGFLT4:1:1332:20837:25970,LH00995:48:23YTGFLT4:1:1431:50842:12756,LH00995:48:23YTGFLT4:1:2146:25747:2387,LH00995:48:23YTGFLT4:1:2179:34946:22103,LH00995:48:23YTGFLT4:1:2228:39694:4909,LH00995:48:23YTGFLT4:1:2252:15538:28758,LH00995:48:23YTGFLT4:1:2252:15554:28758,LH00995:48:23YTGFLT4:1:2252:15562:28744,LH00995:48:23YTGFLT4:1:2253:41596:18824,LH00995:48:23YTGFLT4:1:2291:2877:22747,LH00995:48:23YTGFLT4:1:2316:15036:28562,LH00995:48:23YTGFLT4:1:2335:9438:29543,LH00995:48:23YTGFLT4:1:2416:16703:3732,LH00995:48:23YTGFLT4:1:2447:4074:5904,LH00995:48:23YTGFLT4:1:2475:4932:3102,LH00995:48:23YTGFLT4:2:1108:34420:16792,LH00995:48:23YTGFLT4:2:1135:24437:14774,LH00995:48:23YTGFLT4:2:1137:36790:29417,LH00995:48:23YTGFLT4:2:1137:36806:29417,LH00995:48:23YTGFLT4:2:1137:37267:29627,LH00995:48:23YTGFLT4:2:1138:30245:27077,LH00995:48:23YTGFLT4:2:1232:15190:11846,LH00995:48:23YTGFLT4:2:1382:45665:26713,LH00995:48:23YTGFLT4:2:1446:20351:10865,LH00995:48:23YTGFLT4:2:1486:44031:20071,LH00995:48:23YTGFLT4:2:2111:23191:25171,LH00995:48:23YTGFLT4:2:2214:19097:9365,LH00995:48:23YTGFLT4:2:2240:39840:26572,LH00995:48:23YTGFLT4:2:2333:48496:11383,LH00995:48:23YTGFLT4:2:2335:10530:19132,LH00995:48:23YTGFLT4:2:2335:10538:19118,LH00995:48:23YTGFLT4:2:2335:10546:19132,LH00995:48:23YTGFLT4:2:2348:46692:27904,LH00995:48:23YTGFLT4:2:2442:32438:15208,LH00995:48:23YTGFLT4:2:2448:15149:2303,LH00995:48:23YTGFLT4:3:1196:22511:14802,LH00995:48:23YTGFLT4:3:1414:15918:22859,LH00995:48:23YTGFLT4:3:1421:45414:26110,LH00995:48:23YTGFLT4:3:1451:34646:17885,LH00995:48:23YTGFLT4:3:2124:3184:17422,LH00995:48:23YTGFLT4:3:2172:38093:15391,LH00995:48:23YTGFLT4:3:2379:30795:2303,LH00995:48:23YTGFLT4:3:2405:43125:27806,LH00995:48:23YTGFLT4:4:1263:41175:7193,LH00995:48:23YTGFLT4:4:1346:17358:9576,LH00995:48:23YTGFLT4:4:1435:47566:11593,LH00995:48:23YTGFLT4:4:1435:47582:11593,LH00995:48:23YTGFLT4:4:1451:16767:12896,LH00995:48:23YTGFLT4:4:1469:46797:17913,LH00995:48:23YTGFLT4:4:1469:46806:17927,LH00995:48:23YTGFLT4:4:2134:9826:1939,LH00995:48:23YTGFLT4:4:2223:37591:3592,LH00995:48:23YTGFLT4:4:2231:36547:22439,LH00995:48:23YTGFLT4:4:2231:36556:22425,LH00995:48:23YTGFLT4:4:2335:52088:20631,LH00995:48:23YTGFLT4:4:2483:23919:21472,LH00995:48:23YTGFLT4:4:2486:37890:13891,LH00995:48:23YTGFLT4:5:1156:26597:22971,LH00995:48:23YTGFLT4:5:1213:24890:3004,LH00995:48:23YTGFLT4:5:1275:4786:4111,LH00995:48:23YTGFLT4:5:1403:41401:24625,LH00995:48:23YTGFLT4:2:1388:22989:13947

SMYD3

CNST

-/-

+/+

chr1:246355031

chr1:246621429

CDS/splice-site

inversion

1577

404

low

out-of-frame

MYND_finger(71%),SET_domain(34%)|Consortin_C-terminus(100%)

ENSG00000185420.19

ENSG00000162852.14

ENST00000490107.6

ENST00000366513.9

upstream

TGCTCTCAGTGCCGCGTCGCCAAATACTGTAGTGCTAAGTGTCAG|GACTTTTTTCAGGAGATATTGCACCTTTAATGCAAGAAAAAGTACTAAGCGC

CSQCRVAKYCSAKCQ|dffqeilhl*

LH00995:48:23YTGFLT4:1:1432:10595:16638

CNST

SMYD3

+/+

-/-

chr1:246566663

chr1:246335474

5'UTR/splice-site

CDS/splice-site

inversion

172

1481

low

|MYND_finger(28%),SET_domain(65%)

ENSG00000162852.14

ENSG00000185420.19

ENST00000366513.9

ENST00000490107.6

downstream

GCCCTCCTTGCGCCTCCGATTCCCAG|AAAAAAGCTTGGCCAGACCACAAGCGGGAATGCAAATGCCTTAAAAGCTGCAAACCCAGATATCCTCCAGACTCCGTTCGACTTCTTGGCAGAGTTGTCTTCAAACTT___ATGGATGGAGCACCTTC...AGAGAAGCTTTACTCATTTTATGATCTGGAGTCAA___ATATTAACAAACTGACTGAAGATAAGAAAGAGGGCCTCAGGCAACTCGTAATGACATTTCAACATTTCATGAGAGAAGAAATACAGGATGCCTCTCAGCTGCCACCTGCCTTTGAC

LH00995:48:23YTGFLT4:1:2497:15246:14802

FTO

FRG1GP(2528390),U6(118823)

+/+

./+

chr16:53934109

chr22:15155032

CDS/splice-site

intergenic

translocation

3022

high

out-of-frame

FTO_C-terminal_domain(67%),FTO_catalytic_domain(100%)|

ENSG00000140718.21

ENST00000637969.1

downstream

upstream

duplicates(54),mismatches(6),multimappers(24)

GTGCACTGACTGGTGGTGTCAACCCATGGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|ATCTTCCGGTTTCCCGTGAAGGCCTCAAAGCTGTCCAAATATCCACTTGCAAATTCTACATAAAGAGGGTTTCCAATCTGCTCTATCAAAAGAAATGTTCAACACT

CTDWWCQPMAQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|ssgfp*

LH00995:48:23YTGFLT4:1:1159:17892:24989,LH00995:48:23YTGFLT4:1:1280:14227:3648,LH00995:48:23YTGFLT4:1:1289:11655:12140,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1298:23620:7922,LH00995:48:23YTGFLT4:1:1328:48626:6927,LH00995:48:23YTGFLT4:1:1441:1437:27231,LH00995:48:23YTGFLT4:1:2154:28692:13485,LH00995:48:23YTGFLT4:1:2159:41272:6773,LH00995:48:23YTGFLT4:1:2355:31960:21640,LH00995:48:23YTGFLT4:1:2360:41401:18880,LH00995:48:23YTGFLT4:1:2386:51207:2121,LH00995:48:23YTGFLT4:2:1186:43440:2317,LH00995:48:23YTGFLT4:2:1219:27907:15236,LH00995:48:23YTGFLT4:2:1297:23620:2233,LH00995:48:23YTGFLT4:2:1297:23636:2233,LH00995:48:23YTGFLT4:2:1359:40172:14788,LH00995:48:23YTGFLT4:2:1369:17504:16694,LH00995:48:23YTGFLT4:2:1369:17512:16680,LH00995:48:23YTGFLT4:2:1404:47865:26264,LH00995:48:23YTGFLT4:2:2142:40042:27343,LH00995:48:23YTGFLT4:2:2358:19971:17240,LH00995:48:23YTGFLT4:2:2431:36264:25592,LH00995:48:23YTGFLT4:2:2446:37397:13009,LH00995:48:23YTGFLT4:3:1216:46239:22523,LH00995:48:23YTGFLT4:3:1216:46247:22509,LH00995:48:23YTGFLT4:3:1216:46255:22495,LH00995:48:23YTGFLT4:3:1336:29525:1224,LH00995:48:23YTGFLT4:3:1355:34800:21150,LH00995:48:23YTGFLT4:3:1373:36345:23406,LH00995:48:23YTGFLT4:3:1420:29210:9533,LH00995:48:23YTGFLT4:3:1482:35787:12938,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48351:11075,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2206:48359:11061,LH00995:48:23YTGFLT4:3:2210:16921:7109,LH00995:48:23YTGFLT4:3:2324:30658:10837,LH00995:48:23YTGFLT4:3:2456:13103:29501,LH00995:48:23YTGFLT4:3:2487:41110:14760,LH00995:48:23YTGFLT4:4:1108:17042:17857,LH00995:48:23YTGFLT4:4:1245:48464:17520,LH00995:48:23YTGFLT4:4:1274:37454:1112,LH00995:48:23YTGFLT4:4:1439:45519:23826,LH00995:48:23YTGFLT4:4:1478:48165:29725,LH00995:48:23YTGFLT4:4:2138:36483:8511,LH00995:48:23YTGFLT4:4:2190:37486:2766,LH00995:48:23YTGFLT4:4:2322:30982:25213,LH00995:48:23YTGFLT4:5:1166:45568:9477,LH00995:48:23YTGFLT4:5:1186:32883:19454,LH00995:48:23YTGFLT4:5:1319:44435:23209,LH00995:48:23YTGFLT4:5:1327:5846:1883,LH00995:48:23YTGFLT4:5:1327:5862:1883,LH00995:48:23YTGFLT4:5:1333:6453:13163,LH00995:48:23YTGFLT4:5:1359:28279:20365,LH00995:48:23YTGFLT4:5:1396:2561:12981,LH00995:48:23YTGFLT4:5:1397:25019:11944,LH00995:48:23YTGFLT4:5:1413:33756:17408,LH00995:48:23YTGFLT4:1:1150:36135:17661,LH00995:48:23YTGFLT4:1:1410:26888:15208,LH00995:48:23YTGFLT4:3:1101:28247:6549,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47210:20057,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1353:47218:20071,LH00995:48:23YTGFLT4:3:1443:10077:28408,LH00995:48:23YTGFLT4:3:2467:19380:19440,LH00995:48:23YTGFLT4:4:1302:47760:8735,LH00995:48:23YTGFLT4:4:1380:18224:25171,LH00995:48:23YTGFLT4:4:2302:37947:27693,LH00995:48:23YTGFLT4:5:1349:27171:25115,LH00995:48:23YTGFLT4:2:1126:17762:2513,LH00995:48:23YTGFLT4:3:1476:4196:14970,LH00995:48:23YTGFLT4:3:1493:28466:29571,LH00995:48:23YTGFLT4:4:2243:37996:13317

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

422

181

high

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(24)

GTGATTGTCTTGCTCGGCTTCAGGTCTCTCTTGAGTGACCTGTGCAGCTATGAGGTTTTAAATCTGCTCACAGCCCAGCAGTATGAGATATTCTCCAGAAGCTTCCACAAGAACAGAGAATTGTTTGTCCATGGCTTACCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTGAATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGG

LH00995:48:23YTGFLT4:1:1111:45455:5862,LH00995:48:23YTGFLT4:1:1118:43270:18277,LH00995:48:23YTGFLT4:1:1223:28085:14396,LH00995:48:23YTGFLT4:1:1223:28093:14410,LH00995:48:23YTGFLT4:1:1223:28102:14396,LH00995:48:23YTGFLT4:1:1453:40050:28086,LH00995:48:23YTGFLT4:1:2452:37284:28955,LH00995:48:23YTGFLT4:2:1125:33069:20701,LH00995:48:23YTGFLT4:2:1136:15513:8286,LH00995:48:23YTGFLT4:2:1136:15522:8300,LH00995:48:23YTGFLT4:2:1136:15530:8286,LH00995:48:23YTGFLT4:2:1136:15546:8286,LH00995:48:23YTGFLT4:2:1174:25610:26474,LH00995:48:23YTGFLT4:2:1341:30075:24821,LH00995:48:23YTGFLT4:2:1348:20634:3901,LH00995:48:23YTGFLT4:2:2318:33562:6227,LH00995:48:23YTGFLT4:2:2478:8160:18361,LH00995:48:23YTGFLT4:2:2479:42097:4083,LH00995:48:23YTGFLT4:3:1157:19000:24947,LH00995:48:23YTGFLT4:3:2188:1793:5512,LH00995:48:23YTGFLT4:3:2407:11323:23672,LH00995:48:23YTGFLT4:3:2407:11339:23672,LH00995:48:23YTGFLT4:3:2445:34371:1546,LH00995:48:23YTGFLT4:4:1380:49144:20463,LH00995:48:23YTGFLT4:4:1380:49160:20463,LH00995:48:23YTGFLT4:4:2195:32600:9239,LH00995:48:23YTGFLT4:4:2195:32616:9239,LH00995:48:23YTGFLT4:4:2366:7860:6633,LH00995:48:23YTGFLT4:5:1290:17576:20351,LH00995:48:23YTGFLT4:5:1290:17593:20351,LH00995:48:23YTGFLT4:1:1202:42777:24008,LH00995:48:23YTGFLT4:1:1248:27244:21206,LH00995:48:23YTGFLT4:2:1238:28417:13653,LH00995:48:23YTGFLT4:2:1369:49702:21290,LH00995:48:23YTGFLT4:2:1369:49710:21304,LH00995:48:23YTGFLT4:2:1369:49718:21290,LH00995:48:23YTGFLT4:2:1369:49726:21276,LH00995:48:23YTGFLT4:2:1498:29517:8497,LH00995:48:23YTGFLT4:2:2253:43165:19889,LH00995:48:23YTGFLT4:2:2369:36984:9800,LH00995:48:23YTGFLT4:2:2488:40261:8020,LH00995:48:23YTGFLT4:3:1290:9470:25816,LH00995:48:23YTGFLT4:3:2104:3378:7334,LH00995:48:23YTGFLT4:3:2151:4543:8483,LH00995:48:23YTGFLT4:3:2370:42930:16960,LH00995:48:23YTGFLT4:4:1203:14526:14312,LH00995:48:23YTGFLT4:4:1302:35107:7446,LH00995:48:23YTGFLT4:4:1440:24987:26741,LH00995:48:23YTGFLT4:4:1440:24995:26727,LH00995:48:23YTGFLT4:4:2133:3743:29011,LH00995:48:23YTGFLT4:4:2149:10190:12042,LH00995:48:23YTGFLT4:4:2149:10198:12056,LH00995:48:23YTGFLT4:4:2211:1356:20225,LH00995:48:23YTGFLT4:5:1269:50907:19286,LH00995:48:23YTGFLT4:5:1413:9575:15293,LH00995:48:23YTGFLT4:1:1474:5862:27918,LH00995:48:23YTGFLT4:2:1292:27276:29277,LH00995:48:23YTGFLT4:2:1410:23943:9856,LH00995:48:23YTGFLT4:2:1410:23951:9842,LH00995:48:23YTGFLT4:2:2150:50640:24176,LH00995:48:23YTGFLT4:3:1241:47574:24947,LH00995:48:23YTGFLT4:3:2367:13216:2233,LH00995:48:23YTGFLT4:3:2367:13224:2219,LH00995:48:23YTGFLT4:3:2367:13240:2219,LH00995:48:23YTGFLT4:5:1107:46870:18824

KLF15

AC063919.1

-/-

chr3:126351841

chr3:126294477

CDS/splice-site

exon/splice-site

deletion/read-through

538

high

out-of-frame

Zinc_finger__C2H2_type(48%)|

ENSG00000163884.4

ENSG00000251448.2

ENST00000296233.4

ENST00000514281.2

upstream

downstream

duplicates(15),low_entropy(2),mismatches(1)

GCCGGTCTCCTCATGGGCCAGAAGTTCCCCAAGAACCCAGCCGCAGAACTCATCAAAATGCACAAATGTACTTTCCCTGGCTGCAGCAAGATGTACACCAAAAGCAGCCACCTCAAGGCCCACCTGCGCCGGCACACGGGTGAGAAGCCCTTCGCCTGCACCTGGCCAGGCTGCGGCTGGAG|ATGAATCGCAATTAATAAATGTGGAACGAATGAGAGACGAAGACGATGAGCACCAGAGGACTGCAGGGAGCACGGCTGAGGCAACATCACCAGAGGATAGTAAAATTAGCc

AGLLMGQKFPKNPAAELIKMHKCTFPGCSKMYTKSSHLKAHLRRHTGEKPFACTWPGCGWr|*

LH00995:48:23YTGFLT4:1:1447:52177:27231,LH00995:48:23YTGFLT4:1:1476:19186:3494,LH00995:48:23YTGFLT4:3:1386:27818:22845,LH00995:48:23YTGFLT4:3:1386:27835:22845,LH00995:48:23YTGFLT4:3:1386:27843:22859,LH00995:48:23YTGFLT4:5:1330:30059:10837,LH00995:48:23YTGFLT4:1:1126:1081:8230,LH00995:48:23YTGFLT4:1:1143:36531:29081,LH00995:48:23YTGFLT4:1:1154:16759:8370,LH00995:48:23YTGFLT4:1:1348:50543:19188,LH00995:48:23YTGFLT4:1:1360:35682:5806,LH00995:48:23YTGFLT4:1:2322:24429:20253,LH00995:48:23YTGFLT4:1:2475:13410:23364,LH00995:48:23YTGFLT4:2:1142:1728:1196,LH00995:48:23YTGFLT4:2:1328:43286:16708,LH00995:48:23YTGFLT4:2:1332:50503:19622,LH00995:48:23YTGFLT4:2:2194:40382:1476,LH00995:48:23YTGFLT4:2:2255:36742:15937,LH00995:48:23YTGFLT4:2:2307:10247:14101,LH00995:48:23YTGFLT4:2:2329:26750:9786,LH00995:48:23YTGFLT4:2:2330:7003:2906,LH00995:48:23YTGFLT4:2:2385:50066:15026,LH00995:48:23YTGFLT4:3:1208:41110:6745,LH00995:48:23YTGFLT4:3:1213:8532:27777,LH00995:48:23YTGFLT4:3:1234:3912:13527,LH00995:48:23YTGFLT4:3:1250:7003:6605,LH00995:48:23YTGFLT4:3:1380:43367:15643,LH00995:48:23YTGFLT4:3:1481:32025:1799,LH00995:48:23YTGFLT4:3:1482:18968:22145,LH00995:48:23YTGFLT4:3:2141:37178:4895,LH00995:48:23YTGFLT4:3:2322:11299:4573,LH00995:48:23YTGFLT4:3:2351:22916:27301,LH00995:48:23YTGFLT4:3:2360:34307:21920,LH00995:48:23YTGFLT4:3:2386:40560:29081,LH00995:48:23YTGFLT4:3:2453:50559:7025,LH00995:48:23YTGFLT4:4:1109:25141:22495,LH00995:48:23YTGFLT4:4:1119:33570:25830,LH00995:48:23YTGFLT4:4:1133:26799:12532,LH00995:48:23YTGFLT4:4:1164:12197:11649,LH00995:48:23YTGFLT4:4:1357:44071:18347,LH00995:48:23YTGFLT4:4:1359:18005:23252,LH00995:48:23YTGFLT4:4:1384:43570:11761,LH00995:48:23YTGFLT4:4:1402:12504:11705,LH00995:48:23YTGFLT4:4:1402:13353:12700,LH00995:48:23YTGFLT4:4:1431:43270:17661,LH00995:48:23YTGFLT4:4:1439:48189:26937,LH00995:48:23YTGFLT4:4:2213:38610:24499,LH00995:48:23YTGFLT4:4:2308:11080:12462,LH00995:48:23YTGFLT4:4:2348:15651:12728,LH00995:48:23YTGFLT4:4:2350:37405:12686,LH00995:48:23YTGFLT4:4:2462:15700:10935,LH00995:48:23YTGFLT4:4:2496:11307:2149,LH00995:48:23YTGFLT4:5:1176:6137:2163,LH00995:48:23YTGFLT4:5:1272:3613:24751,LH00995:48:23YTGFLT4:5:1298:41377:17801,LH00995:48:23YTGFLT4:4:1246:9268:12574

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

140

287

high

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(5)

CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAGTGATTTTTCA

LH00995:48:23YTGFLT4:1:1242:42526:16848,LH00995:48:23YTGFLT4:1:2192:47518:21290,LH00995:48:23YTGFLT4:2:1335:1340:16526,LH00995:48:23YTGFLT4:2:1335:1348:16540,LH00995:48:23YTGFLT4:2:2481:29412:9491,LH00995:48:23YTGFLT4:2:2481:29420:9477,LH00995:48:23YTGFLT4:3:1248:3241:27413,LH00995:48:23YTGFLT4:3:1473:40034:1967,LH00995:48:23YTGFLT4:3:1473:40050:1967,LH00995:48:23YTGFLT4:3:1487:4964:17170,LH00995:48:23YTGFLT4:4:1348:5207:10472,LH00995:48:23YTGFLT4:4:2155:44395:24597,LH00995:48:23YTGFLT4:5:1254:15683:28422,LH00995:48:23YTGFLT4:5:1254:15691:28408,LH00995:48:23YTGFLT4:5:1311:46231:18277,LH00995:48:23YTGFLT4:5:1420:12035:2373,LH00995:48:23YTGFLT4:1:2165:14284:26054,LH00995:48:23YTGFLT4:1:2213:43473:22859,LH00995:48:23YTGFLT4:1:2382:47226:22411,LH00995:48:23YTGFLT4:1:2382:47234:22397,LH00995:48:23YTGFLT4:1:2420:49532:17773,LH00995:48:23YTGFLT4:1:2438:29881:11481,LH00995:48:23YTGFLT4:1:2443:43529:8328,LH00995:48:23YTGFLT4:2:2202:6744:2513,LH00995:48:23YTGFLT4:2:2459:46377:4685,LH00995:48:23YTGFLT4:3:1178:9397:1364,LH00995:48:23YTGFLT4:3:1445:16347:11075,LH00995:48:23YTGFLT4:3:2189:14518:21780,LH00995:48:23YTGFLT4:4:1296:50454:9954

FTO

MIR663AHG(380006),FRG1CP(1932298)

+/+

./-

chr16:53934109

chr20:26631552

CDS/splice-site

intergenic

translocation

3022

high

out-of-frame

FTO_C-terminal_domain(67%),FTO_catalytic_domain(100%)|

ENSG00000140718.21

ENST00000637969.1

downstream

duplicates(13),mismappers(4),mismatches(11)

GGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|GCCTCAAAGCTCTTCAAATGTCCACTTCCAGATACTACAAAAAGAGTGTTTCAAACATGCTCTATGAAAGGGAATGTTCAACTCAGTGACATGAACGCA

AQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|pqsssnvhfqilqkecfkhal*

LH00995:48:23YTGFLT4:1:1105:7925:23896,LH00995:48:23YTGFLT4:1:1105:7933:23882,LH00995:48:23YTGFLT4:1:1146:39573:25746,LH00995:48:23YTGFLT4:1:1201:39330:23980,LH00995:48:23YTGFLT4:1:1403:1210:2345,LH00995:48:23YTGFLT4:1:1434:25310:4909,LH00995:48:23YTGFLT4:1:2422:14243:27469,LH00995:48:23YTGFLT4:1:2469:22924:27035,LH00995:48:23YTGFLT4:2:1124:17803:15222,LH00995:48:23YTGFLT4:2:1188:46207:12266,LH00995:48:23YTGFLT4:2:1198:28684:18964,LH00995:48:23YTGFLT4:2:1215:50729:28646,LH00995:48:23YTGFLT4:2:1307:40334:19300,LH00995:48:23YTGFLT4:2:1462:22430:27189,LH00995:48:23YTGFLT4:2:2179:27301:3284,LH00995:48:23YTGFLT4:2:2248:19599:2415,LH00995:48:23YTGFLT4:2:2303:38246:10444,LH00995:48:23YTGFLT4:2:2392:5652:19426,LH00995:48:23YTGFLT4:2:2393:18741:29179,LH00995:48:23YTGFLT4:3:1263:5207:8202,LH00995:48:23YTGFLT4:3:1418:52137:28030,LH00995:48:23YTGFLT4:3:2111:35083:4489,LH00995:48:23YTGFLT4:3:2168:34954:17520,LH00995:48:23YTGFLT4:3:2224:5959:22397,LH00995:48:23YTGFLT4:3:2388:17876:13247,LH00995:48:23YTGFLT4:3:2465:25561:10584,LH00995:48:23YTGFLT4:3:2465:25569:10570,LH00995:48:23YTGFLT4:3:2465:25577:10584,LH00995:48:23YTGFLT4:4:1169:28474:22579,LH00995:48:23YTGFLT4:4:1290:17034:27315,LH00995:48:23YTGFLT4:4:2202:39395:28128,LH00995:48:23YTGFLT4:4:2248:36200:14242,LH00995:48:23YTGFLT4:4:2248:41547:9800,LH00995:48:23YTGFLT4:4:2253:47251:10458,LH00995:48:23YTGFLT4:4:2389:33878:29277,LH00995:48:23YTGFLT4:4:2438:22503:3466,LH00995:48:23YTGFLT4:4:2445:23223:6030,LH00995:48:23YTGFLT4:4:2484:1291:4083,LH00995:48:23YTGFLT4:4:2484:1299:4069,LH00995:48:23YTGFLT4:5:1155:35868:15152,LH00995:48:23YTGFLT4:5:1194:43497:28058,LH00995:48:23YTGFLT4:5:1240:4705:20785,LH00995:48:23YTGFLT4:5:1311:14227:1406,LH00995:48:23YTGFLT4:5:1405:17148:22411,LH00995:48:23YTGFLT4:1:1472:40083:3396,LH00995:48:23YTGFLT4:2:2143:3298:4391,LH00995:48:23YTGFLT4:2:2253:33384:16904,LH00995:48:23YTGFLT4:3:1452:35658:10556,LH00995:48:23YTGFLT4:3:1452:35666:10542,LH00995:48:23YTGFLT4:4:2330:25569:17549,LH00995:48:23YTGFLT4:4:2354:19211:16147

FRMD6

LINC00964

+/+

chr14:51651996

chr8:124941463

5'UTR/splice-site

exon/splice-site

translocation

1007

high

ENSG00000139926.16

ENSG00000249816.7

ENST00000395718.6

ENST00000657463.1

downstream

upstream

duplicates(1)

TGGGGCAGGCTCGGCGCCGGTAGGAAGAGTCAGAGGGGTGACCAGAGAGCCCAACGCCTGGTGCTCAAGACTTTCTCCGAG|GTGAAGGATCTAAAACCTGAAAAGAGGCCAAATGATTCCTCAAAACCACGCAAGTACGAAGTAGCAGAGCGGATCTCAAATCCAG

LH00995:48:23YTGFLT4:1:2290:15886:6969,LH00995:48:23YTGFLT4:2:1235:37316:10234,LH00995:48:23YTGFLT4:4:2116:24073:3326,LH00995:48:23YTGFLT4:4:2383:45244:2724,LH00995:48:23YTGFLT4:2:1326:49491:28380,LH00995:48:23YTGFLT4:2:1396:1671:6255,LH00995:48:23YTGFLT4:2:2297:22350:29235,LH00995:48:23YTGFLT4:2:2341:36750:17156,LH00995:48:23YTGFLT4:3:1360:21338:2177,LH00995:48:23YTGFLT4:3:2102:12787:9029,LH00995:48:23YTGFLT4:4:1372:38958:5484,LH00995:48:23YTGFLT4:5:1303:50511:8819,LH00995:48:23YTGFLT4:5:1312:21233:7404

CLIC2

BX571846.1

-/-

+/+

chrX:155334371

chrX:155468286

CDS/splice-site

exon

inversion

458

high

out-of-frame

ENSG00000155962.13

ENSG00000225393.1

ENST00000369449.7

ENST00000447347.1

upstream

duplicates(7),mismatches(1)

CTGACTCAGTCCACTACAAGCTAGACGGTCTTCTTAAAGCACCAACATTACTTGAGTCTTTGGATAAAATTGAGAAAAGAGTCTACAAGTATTGTGGACTCTACAGGAGGCAGGAGGCTGACAACTGGCAGTAAAGACAAAGATGTCAGGCCTGCGGCCCGGCACTCAAGTGGACCCTGAGATTGAGCTTTTTGTAAAG|CACGGTGTCTTGGAAAATGGAAAGAATTGGGAGCCTTCCTACCGCTGGTGAAATCTAGGAGTGGCAGTTGAGGGCTTCTGTTCACAAAG___TGTACTAAAGGGAGC

MSGLRPGTQVDPEIELFVK|hgvlengknwepsyrw*

LH00995:48:23YTGFLT4:1:1420:8904:13653,LH00995:48:23YTGFLT4:1:1420:8920:13653,LH00995:48:23YTGFLT4:3:1108:4786:5036,LH00995:48:23YTGFLT4:3:1208:16581:15769,LH00995:48:23YTGFLT4:3:1330:2246:20225,LH00995:48:23YTGFLT4:3:1330:2262:20225,LH00995:48:23YTGFLT4:3:1409:45940:23882,LH00995:48:23YTGFLT4:4:1362:50203:29109,LH00995:48:23YTGFLT4:4:2173:42397:29263,LH00995:48:23YTGFLT4:4:2202:29040:3971,LH00995:48:23YTGFLT4:1:1123:51344:4741,LH00995:48:23YTGFLT4:1:1123:51360:4741,LH00995:48:23YTGFLT4:1:2202:30779:9281,LH00995:48:23YTGFLT4:3:2233:37591:23658,LH00995:48:23YTGFLT4:4:1430:14219:11649,LH00995:48:23YTGFLT4:4:1430:14235:11649,LH00995:48:23YTGFLT4:5:1245:44646:10598,LH00995:48:23YTGFLT4:5:1245:44662:10598

CLIC2

BX571846.1

-/-

+/+

chrX:155334371

chrX:155486583

CDS/splice-site

exon/splice-site

inversion

458

low

out-of-frame

ENSG00000155962.13

ENSG00000225393.1

ENST00000369449.7

ENST00000447347.1

upstream

duplicates(1),mismatches(1)

GGAGGCAGGAGGCTGACAACTGGCAGTAAAGACAAAGATGTCAGGCCTGCGGCCCGGCACTCAAGTGGACCCTGAGATTGAGCTTTTTGTAAAG|TCTGGCCATGTTTCTG

MSGLRPGTQVDPEIELFVK|sghvs

LH00995:48:23YTGFLT4:2:2298:12642:26012,LH00995:48:23YTGFLT4:3:2426:44346:4167

IGF1R

FAM169B(63859),IRAIN(35364)

+/+

./+

chr15:98708107

chr15:98611587

CDS/splice-site

intergenic

duplication

1422

high

out-of-frame

Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|

ENSG00000140443.15

ENST00000650285.1

downstream

upstream

duplicates(4),mismappers(3)

ACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|GGTCTCACTTTGTCACCCTAGGCTGGAGTGCAATGGTGCCAACACAACCAACTGCATCCTTGATTTCCTGGGCTCCAGTGATCCTCCTACCTCAACCTCTGGAGTAGCTGGGACTACAGGTGCACCACCAGACTTGGCTGATTATTATTATTATTTTGGTAGAGACAAGGTTTTTCCATGTTGCCCAGCCTGGTCTCAAACTCCTGACCTCGAG

YIVGNKPPKECGDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|rshfvtlgwsamvptqptasliswapvillpqple*

LH00995:48:23YTGFLT4:1:2154:8847:23167,LH00995:48:23YTGFLT4:2:2130:17997:29375,LH00995:48:23YTGFLT4:3:1235:47162:2597,LH00995:48:23YTGFLT4:3:1235:47170:2583,LH00995:48:23YTGFLT4:3:1235:47186:2583,LH00995:48:23YTGFLT4:4:2270:18847:27175,LH00995:48:23YTGFLT4:2:1326:19461:10192,LH00995:48:23YTGFLT4:2:1326:19478:10192,LH00995:48:23YTGFLT4:2:1468:24696:16848,LH00995:48:23YTGFLT4:2:2139:9770:16442,LH00995:48:23YTGFLT4:3:1376:41701:8020,LH00995:48:23YTGFLT4:3:1398:16533:10893,LH00995:48:23YTGFLT4:3:1496:33489:17927,LH00995:48:23YTGFLT4:4:2149:23150:23336,LH00995:48:23YTGFLT4:5:1257:39994:26362

FRMD6

MRS2P1

+/+

chr14:51678434

chr8:124921618

intron

translocation

high

ENSG00000139926.16

ENSG00000250428.1

ENST00000514059.1

downstream

upstream

duplicates(1),mismatches(1)

GTCCAGATTTGAGTTGGATATTTTTGGTACTTGCAACTTAGTGCGTCCCAAACAGTGTGTCTCCTTATGTGTTTGCTTTCACATAAGTTGGCTTAACCTGACACACATGGAGACTTTTGCAGAAAcTATTTTGTGGACAGTGTTGGAGGATCGTATTCTCACATTATGTCCAC|AGAAGAGATGGACCTGCTGTTGGAAAACTACTACCTATTGGCTGACGATCTCTTCAATACAGTTTGGGAGCTTAGGGTACTGACTGATGATTCACGAAGTATCATTTTCATCAATCTGGACAGCCACCGTAATGTGATGATGAGGTTGAATCTACTGCTGACCATGGGAATCTTCTCTCTTTCACTCTTTGGACTAATGGGAATTGCTTTTGGAATGATTTTGGAATCCTCCTTGAAGAGGACCCTAGAGTGTTTTGGCTGATTACAGGAATTATGTTCATGGGAAGTAGCCTCATCTGGAGGCGCCTGCTTTCATTCCTTGGACGACAGCCGGAAGCTCCGTTGCCTCCTATGATGGCCTCTTTACTGAAAAAGATCCTTCTGGCAGATAGAAGCATGGAATTGAAAAACAGCCTCAGACTAGATGGACCTGGATCAGGC

LH00995:48:23YTGFLT4:1:1214:9931:14564,LH00995:48:23YTGFLT4:1:2401:51368:10865,LH00995:48:23YTGFLT4:3:1103:8022:27063,LH00995:48:23YTGFLT4:4:1155:42809:13947,LH00995:48:23YTGFLT4:4:2185:25391:11860,LH00995:48:23YTGFLT4:4:2290:17957:22803,LH00995:48:23YTGFLT4:1:2470:23070:1224,LH00995:48:23YTGFLT4:1:2470:23078:1210,LH00995:48:23YTGFLT4:3:1405:15198:2359

CLIC2

TMLHE-AS1

-/-

+/+

chrX:155334371

chrX:155474539

CDS/splice-site

exon/splice-site

inversion

458

high

out-of-frame

ENSG00000155962.13

ENSG00000224533.4

ENST00000369449.7

ENST00000433624.1

upstream

duplicates(3)

GACTGGCTCCAGGTCTGACTCAGTCCACTACAAGCTAGACGGTCTTCTTAAAGCACCAACATTACTTGAGTCTTTGGATAAAATTGAGAAAAGAGTCTACAAGTATTGTGGACTCTACAGGAGGCAGGAGGCTGACAACTGGCAGTAAAGACAAAGATGTCAGGCCTGCGGCCCGGCACTCAAGTGGACCCTGAGATTGAGCTTTTTGTAAAG|GCTCAGAAGTGGAAAAATATGAAGATCCATTGCTGATGGGAATCCTGCCCTAAGCAAACGGTG___TCTGGCCATGTTTCTGTAGGGCTGCTGTACTTTGCTGGGCTTCTTCTCCAGTTCCTAGTCTCCTTGGATTTTCCAGTACCTGGAGCTATCACCAGTGAAGGCTGTGAAACAGCAAAGATGTCAtCCTGCC

MSGLRPGTQVDPEIELFVK|aqkwknmkihc*

LH00995:48:23YTGFLT4:1:1126:19469:3060,LH00995:48:23YTGFLT4:2:1454:47412:12644,LH00995:48:23YTGFLT4:2:1468:47873:25830,LH00995:48:23YTGFLT4:1:2310:17099:20169,LH00995:48:23YTGFLT4:1:2310:17107:20183,LH00995:48:23YTGFLT4:5:1245:44646:10598,LH00995:48:23YTGFLT4:5:1245:44662:10598

CLIC2

TMLHE-AS1

-/-

+/+

chrX:155334371

chrX:155468286

CDS/splice-site

intron

inversion

458

high

out-of-frame

ENSG00000155962.13

ENSG00000224533.4

ENST00000369449.7

ENST00000433624.1

upstream

duplicates(5)

TCCAGGTCTGACTCAGTCCACTACAAGCTAGACGGTCTTCTTAAAGCACCAACATTACTTGAGTCTTTGGATAAAATTGAGAAAAGAGTCTACAAGTATTGTGGACTCTACAGGAGGCAGGAGGCTGACAACTGGCAGTAAAGACAAAGATGTCAGGCCTGCGGCCCGGCACTCAAGTGGACCCTGAGATTGAGCTTTTTGTAAAG|CACGGTGTCTTGGAAAATGGAAAGAATTGGGAGCCTTCCTACCGCTGGTGAAATCTAGGAGTGGCAGTTGAGGGCTTCTGTTCACAAAG___TGTACTAAAGGGAGCACATTGTTGAGAAGGACCGGTTGCAAATTTCCAAAAAGGAGA

MSGLRPGTQVDPEIELFVK|hgvlengknwepsyrw*

LH00995:48:23YTGFLT4:1:1123:51344:4741,LH00995:48:23YTGFLT4:1:1123:51360:4741,LH00995:48:23YTGFLT4:1:2202:30779:9281,LH00995:48:23YTGFLT4:1:2310:17099:20169,LH00995:48:23YTGFLT4:1:2310:17107:20183,LH00995:48:23YTGFLT4:4:1430:14219:11649,LH00995:48:23YTGFLT4:4:1430:14235:11649,LH00995:48:23YTGFLT4:5:1245:44646:10598,LH00995:48:23YTGFLT4:5:1245:44662:10598

SMPD1

+/+

chr11:6390741

chr11:6390730

CDS

duplication/ITD

199

133

2021

2019

medium

in-frame

|Calcineurin-like_phosphoesterase(100%)

ENSG00000166311.10

ENST00000342245.9

downstream

upstream

duplicates(303),low_entropy(3),mismappers(3)

CGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGcGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC|GCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACC

MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLaLALALALALALa|LALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLF

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9623:1448,LH00995:48:23YTGFLT4:4:2442:38287:17745,LH00995:48:23YTGFLT4:4:2447:8273:12392,LH00995:48:23YTGFLT4:4:2468:22592:9113,LH00995:48:23YTGFLT4:5:1111:38036:9856,LH00995:48:23YTGFLT4:5:1168:38845:11817,LH00995:48:23YTGFLT4:1:2272:20012:1168,LH00995:48:23YTGFLT4:3:1377:26945:19174,LH00995:48:23YTGFLT4:5:1265:41701:6507

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

185

2030

2226

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(94),mismappers(54)

TCGCTCTCCTGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCAC

RSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVP

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GFLT4:2:2245:26370:4531,LH00995:48:23YTGFLT4:2:2248:5530:11201,LH00995:48:23YTGFLT4:2:2250:35593:1897,LH00995:48:23YTGFLT4:2:2274:2901:13233,LH00995:48:23YTGFLT4:2:2284:27592:15895,LH00995:48:23YTGFLT4:2:2302:4333:11229,LH00995:48:23YTGFLT4:2:2308:9001:22173,LH00995:48:23YTGFLT4:2:2316:42502:26558,LH00995:48:23YTGFLT4:2:2319:50357:24583,LH00995:48:23YTGFLT4:2:2341:12399:18698,LH00995:48:23YTGFLT4:2:2347:24105:10136,LH00995:48:23YTGFLT4:2:2350:15465:5624,LH00995:48:23YTGFLT4:2:2416:9996:19244,LH00995:48:23YTGFLT4:2:2431:2537:10865,LH00995:48:23YTGFLT4:2:2435:39913:3718,LH00995:48:23YTGFLT4:2:2435:39929:3718,LH00995:48:23YTGFLT4:2:2435:39937:3732,LH00995:48:23YTGFLT4:2:2445:14729:1603,LH00995:48:23YTGFLT4:2:2455:17439:20673,LH00995:48:23YTGFLT4:2:2455:17455:20673,LH00995:48:23YTGFLT4:2:2457:7367:17156,LH00995:48:23YTGFLT4:2:2484:33546:18445,LH00995:48:23YTGFLT4:2:2484:4260:12364,LH00995:48:23YTGFLT4:2:2484:4268:12350,LH00995:48:23YTGFLT4:2:2487:24356:5638,LH00995:48:23YTGFLT4:2:2490:52024:5162,LH00995:48:23YTGFLT4:3:1115:17657:15335,LH00995:48:23YTGFLT4:3:1115:17673:15335,LH00995:48:23YTGFLT4:3:1135:49022:19272,LH00995:48:23YTGFLT4:3:1144:24113:17268,LH00995:48:23YTGFLT4:3:1144:24129:17268,LH00995:48:23YTGFLT4:3:1146:29574:27175,LH00995:48:23YTGFLT4:3:1146:29582:27161,LH00995:48:23YTGFLT4:3:1166:12860:7137,LH00995:48:23YTGFLT4:3:1178:17431:2135,LH00995:48:23YTGFLT4:3:1215:32543:22369,LH00995:48:23YTGFLT4:3:1252:10247:19987,LH00995:48:23YTGFLT4:3:1263:7496:16231,LH00995:48:23YTGFLT4:3:1293:23951:23013,LH00995:48:23YTGFLT4:3:1301:22916:14746,LH00995:48:23YTGFLT4:3:1324:41385:3802,LH00995:48:23YTGFLT4:3:1351:12771:26993,LH00995:48:23YTGFLT4:3:1376:12027:25592,LH00995:48:23YTGFLT4:3:1394:30731:4405,LH00995:48:23YTGFLT4:3:1404:20764:15643,LH00995:48:23YTGFLT4:3:2105:42785:24527,LH00995:48:23YTGFLT4:3:2107:36248:9365,LH00995:48:23YTGFLT4:3:2115:43667:18740,LH00995:48:23YTGFLT4:3:2141:42906:19328,LH00995:48:23YTGFLT4:3:2144:19890:9842,LH00995:48:23YTGFLT4:3:2149:5547:3270,LH00995:48:23YTGFLT4:3:2154:26063:12518,LH00995:48:23YTGFLT4:3:2157:2311:22131,LH00995:48:23YTGFLT4:3:2168:47712:17366,LH00995:48:23YTGFLT4:3:2203:9090:19776,LH00995:48:23YTGFLT4:3:2211:44961:19552,LH00995:48:23YTGFLT4:3:2214:47210:21990,LH00995:48:23YTGFLT4:3:2218:50074:1785,LH00995:48:23YTGFLT4:3:2238:37089:12252,LH00995:48:23YTGFLT4:3:2238:37106:12252,LH00995:48:23YTGFLT4:3:2261:44710:3564,LH00995:48:23YTGFLT4:3:2277:19502:9533,LH00995:48:23YTGFLT4:3:2282:18685:15461,LH00995:48:23YTGFLT4:3:2307:27349:28422,LH00995:48:23YTGFLT4:3:2350:40317:2766,LH00995:48:23YTGFLT4:3:2351:32947:2808,LH00995:48:23YTGFLT4:3:2358:10611:29137,LH00995:48:23YTGFLT4:3:2371:8216:29165,LH00995:48:23YTGFLT4:3:2374:6396:25900,LH00995:48:23YTGFLT4:3:2411:23854:20659,LH00995:48:23YTGFLT4:3:2468:16266:21696,LH00995:48:23YTGFLT4:4:1104:30189:4307,LH00995:48:23YTGFLT4:4:1108:5563:1112,LH00995:48:23YTGFLT4:4:1109:27673:22733,LH00995:48:23YTGFLT4:4:1123:42113:25662,LH00995:48:23YTGFLT4:4:1154:45746:18361,LH00995:48:23YTGFLT4:4:1192:23450:1715,LH00995:48:23YTGFLT4:4:1197:25052:18501,LH00995:48:23YTGFLT4:4:1232:5417:24064,LH00995:48:23YTGFLT4:4:1254:23142:22621,LH00995:48:23YTGFLT4:4:1266:19421:11383,LH00995:48:23YTGFLT4:4:1279:31410:7656,LH00995:48:23YTGFLT4:4:1279:31418:7642,LH00995:48:23YTGFLT4:4:1322:6833:9898,LH00995:48:23YTGFLT4:4:1329:16687:22929,LH00995:48:23YTGFLT4:4:1329:16695:22943,LH00995:48:23YTGFLT4:4:1336:22932:7432,LH00995:48:23YTGFLT4:4:1373:11889:9968,LH00995:48:23YTGFLT4:4:1396:5441:6227,LH00995:48:23YTGFLT4:4:1396:5450:6241,LH00995:48:23YTGFLT4:4:1419:10255:14536,LH00995:48:23YTGFLT4:4:1430:22908:1757,LH00995:48:23YTGFLT4:4:1442:48472:26811,LH00995:48:23YTGFLT4:4:1465:8734:27511,LH00995:48:23YTGFLT4:4:1473:47720:3901,LH00995:48:23YTGFLT4:4:1473:47728:3887,LH00995:48:23YTGFLT4:4:2109:25327:20996,LH00995:48:23YTGFLT4:4:2112:43942:26642,LH00995:48:23YTGFLT4:4:2143:36903:1841,LH00995:48:23YTGFLT4:4:2182:9624:3915,LH00995:48:23YTGFLT4:4:2185:30747:4321,LH00995:48:23YTGFLT4:4:2194:40673:10668,LH00995:48:23YTGFLT4:4:2241:51651:16035,LH00995:48:23YTGFLT4:4:2244:31880:21752,LH00995:48:23YTGFLT4:4:2246:40067:3144,LH00995:48:23YTGFLT4:4:2255:20529:1701,LH00995:48:23YTGFLT4:4:2273:16945:19370,LH00995:48:23YTGFLT4:4:2290:21783:22117,LH00995:48:23YTGFLT4:4:2291:40018:1603,LH00995:48:23YTGFLT4:4:2296:50066:20127,LH00995:48:23YTGFLT4:4:2326:19931:21962,LH00995:48:23YTGFLT4:4:2354:35415:19384,LH00995:48:23YTGFLT4:4:2384:47437:4923,LH00995:48:23YTGFLT4:4:2393:9600:13093,LH00995:48:23YTGFLT4:4:2405:33676:27077,LH00995:48:23YTGFLT4:4:2419:43286:22593,LH00995:48:23YTGFLT4:4:2419:7868:14466,LH00995:48:23YTGFLT4:4:2422:51012:12966,LH00995:48:23YTGFLT4:4:2424:15279:1490,LH00995:48:23YTGFLT4:4:2424:29097:13093,LH00995:48:23YTGFLT4:4:2424:29105:13079,LH00995:48:23YTGFLT4:4:2426:6469:3887,LH00995:48:23YTGFLT4:4:2478:27899:17184,LH00995:48:23YTGFLT4:5:1108:16873:15321,LH00995:48:23YTGFLT4:5:1110:37114:22411,LH00995:48:23YTGFLT4:5:1111:41507:16119,LH00995:48:23YTGFLT4:5:1153:46603:8805,LH00995:48:23YTGFLT4:5:1166:1040:9281,LH00995:48:23YTGFLT4:5:1198:38141:25087,LH00995:48:23YTGFLT4:5:1216:31160:13247,LH00995:48:23YTGFLT4:5:1225:3621:9351,LH00995:48:23YTGFLT4:5:1225:3637:9351,LH00995:48:23YTGFLT4:5:1236:13305:10851,LH00995:48:23YTGFLT4:5:1244:41102:10234,LH00995:48:23YTGFLT4:5:1260:31014:21178,LH00995:48:23YTGFLT4:5:1260:49095:1631,LH00995:48:23YTGFLT4:5:1261:21290:27932,LH00995:48:23YTGFLT4:5:1268:6744:26923,LH00995:48:23YTGFLT4:5:1296:16225:21010,LH00995:48:23YTGFLT4:5:1305:7610:22369,LH00995:48:23YTGFLT4:5:1311:23191:11579,LH00995:48:23YTGFLT4:5:1349:40067:5274,LH00995:48:23YTGFLT4:5:1360:37445:19342,LH00995:48:23YTGFLT4:5:1364:51538:10963,LH00995:48:23YTGFLT4:5:1379:4576:27820,LH00995:48:23YTGFLT4:5:1383:49556:15321,LH00995:48:23YTGFLT4:5:1388:50940:21416,LH00995:48:23YTGFLT4:5:1418:42227:28884,LH00995:48:23YTGFLT4:5:1418:42235:28870

MSH3

+/+

chr5:80654930

chr5:80654922

CDS

duplication/ITD

161

1554

1345

medium

in-frame

|MutS_domain_I(100%),MutS_domain_II(100%),MutS_domain_III(100%),MutS_domain_V(100%)

ENSG00000113318.11

ENST00000265081.7

downstream

upstream

duplicates(209),mismappers(34)

CTCCAGCTCAGCCCCTGCGAGGCAAGCGGTTTTGAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCcGCAGCGGCCGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGC|GCCCCCAGCTCCCGCCTTCCCGCCCCAGCTGCCGCCGCACgTA___GCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAAAGTAAAGAAAGTC

SSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPa|PPAPAFPPQLPPHvATEIDRRKKRPLENDGPVKKKVKK

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PAXIP1

-/-

chr7:154968831

chr7:154968833

CDS

duplication/ITD

438

528

medium

in-frame

twin_BRCT_domain(50%)|BRCA1_C_Terminus_(BRCT)_domain(100%),Regulator_of_Ty1_transposition_protein_107_BRCT_domain(100%),twin_BRCT_domain(49%)

ENSG00000157212.19

ENST00000404141.6

upstream

downstream

duplicates(91),low_entropy(1)

CAGCCCCAGCAGATAATGCAGCTCCAGCAGCAGCAGCAGCAGCAGATCTCTCAGCAACCTTACCCCCAGCAGCCGCCGCATCCATTTTCACAGCAACAGCAGCAGCAGCAGCA|GCAAGCCCATCCGCATCAGTTTTCACAGCAACAGCTACAGTTTCCACAGCAACAGTTGCATCCTCCACAGCAGCTGCATCGCCCTCAGCAGCAGCTCCAGCCCTTTCAGCAGC

QPQQIMQLQQQQQQQISQQPYPQQPPHPFSQQQQQQQq|QAHPHQFSQQQLQFPQQQLHPPQQLHRPQQQLQPFQQ

LH00995:48:23YTGFLT4:1:1141:4503:8413,LH00995:48:23YTGFLT4:1:1171:1858:8735,LH00995:48:23YTGFLT4:1:1184:39298:17450,LH00995:48:23YTGFLT4:1:1208:17237:22481,LH00995:48:23YTGFLT4:1:1208:17253:22481,LH00995:48:23YTGFLT4:1:1281:26961:7207,LH00995:48:23YTGFLT4:1:1281:46450:29025,LH00995:48:23YTGFLT4:1:1287:45568:29319,LH00995:48:23YTGFLT4:1:1290:51158:23700,LH00995:48:23YTGFLT4:1:1325:23879:25746,LH00995:48:23YTGFLT4:1:1376:51409:20603,LH00995:48:23YTGFLT4:1:1396:18863:9856,LH00995:48:23YTGFLT4:1:1420:50195:6619,LH00995:48:23YTGFLT4:1:1430:10279:3396,LH00995:48:23YTGFLT4:1:1441:42801:1378,LH00995:48:23YTGFLT4:1:1441:42817:1378,LH00995:48:23YTGFLT4:1:1454:35730:21668,LH00995:48:23YTGFLT4:1:2144:47000:4979,LH00995:48:23YTGFLT4:1:2253:24607:27315,LH00995:48:23YTGFLT4:1:2326:31313:25788,LH00995:48:23YTGFLT4:1:2359:13499:21360,LH00995:48:23YTGFLT4:1:2410:3338:6759,LH00995:48:23YTGFLT4:1:2422:4624:12266,LH00995:48:23YTGFLT4:1:2432:52129:9604,LH00995:48:23YTGFLT4:1:2446:28522:5008,LH00995:48:23YTGFLT4:2:1256:42583:25578,LH00995:48:23YTGFLT4:2:1273:37049:1701,LH00995:48:23YTGFLT4:2:1308:9357:18305,LH00995:48:23YTGFLT4:2:1326:10425:6703,LH00995:48:23YTGFLT4:2:1355:21727:29277,LH00995:48:23YTGFLT4:2:1395:17641:20015,LH00995:48:23YTGFLT4:2:1433:6072:6255,LH00995:48:23YTGFLT4:2:1441:6008:25507,LH00995:48:23YTGFLT4:2:1446:20303:12518,LH00995:48:23YTGFLT4:2:1451:22228:23448,LH00995:48:23YTGFLT4:2:1463:50737:11846,LH00995:48:23YTGFLT4:2:2123:40237:27651,LH00995:48:23YTGFLT4:2:2166:50292:19258,LH00995:48:23YTGFLT4:2:2175:4543:9043,LH00995:48:23YTGFLT4:2:2180:48108:10234,LH00995:48:23YTGFLT4:2:2202:6356:14368,LH00995:48:23YTGFLT4:2:2202:6372:14368,LH00995:48:23YTGFLT4:2:2225:4390:3508,LH00995:48:23YTGFLT4:2:2251:43917:21080,LH00995:48:23YTGFLT4:2:2290:40932:15965,LH00995:48:23YTGFLT4:2:2302:43295:12630,LH00995:48:23YTGFLT4:2:2307:1615:12686,LH00995:48:23YTGFLT4:2:2309:21500:12098,LH00995:48:23YTGFLT4:2:2339:12051:14424,LH00995:48:23YTGFLT4:2:2352:30698:18193,LH00995:48:23YTGFLT4:2:2389:28733:27203,LH00995:48:23YTGFLT4:2:2431:47420:22383,LH00995:48:23YTGFLT4:2:2453:43384:18978,LH00995:48:23YTGFLT4:3:1107:16055:25339,LH00995:48:23YTGFLT4:3:1107:16064:25353,LH00995:48:23YTGFLT4:3:1152:40366:27539,LH00995:48:23YTGFLT4:3:1153:49411:16806,LH00995:48:23YTGFLT4:3:1234:3977:2345,LH00995:48:23YTGFLT4:3:1261:9001:17268,LH00995:48:23YTGFLT4:3:1272:39500:3480,LH00995:48:23YTGFLT4:3:1309:5369:26642,LH00995:48:23YTGFLT4:3:1349:49815:24513,LH00995:48:23YTGFLT4:3:1350:37292:29613,LH00995:48:23YTGFLT4:3:1358:27414:19118,LH00995:48:23YTGFLT4:3:1360:14357:12952,LH00995:48:23YTGFLT4:3:2253:19631:10682,LH00995:48:23YTGFLT4:3:2275:2958:14396,LH00995:48:23YTGFLT4:3:2278:16962:23490,LH00995:48:23YTGFLT4:3:2293:4390:25620,LH00995:48:23YTGFLT4:3:2377:20578:24036,LH00995:48:23YTGFLT4:3:2448:12197:15040,LH00995:48:23YTGFLT4:3:2452:27835:29487,LH00995:48:23YTGFLT4:3:2463:51465:3018,LH00995:48:23YTGFLT4:3:2466:36111:9407,LH00995:48:23YTGFLT4:3:2489:20723:4727,LH00995:48:23YTGFLT4:3:2489:20732:4713,LH00995:48:23YTGFLT4:4:1172:21282:27301,LH00995:48:23YTGFLT4:4:1177:27446:23153,LH00995:48:23YTGFLT4:4:1329:29598:13989,LH00995:48:23YTGFLT4:4:1374:18523:22495,LH00995:48:23YTGFLT4:4:1386:13111:7628,LH00995:48:23YTGFLT4:4:1463:31079:29445,LH00995:48:23YTGFLT4:4:2122:38271:9393,LH00995:48:23YTGFLT4:4:2146:25375:15251,LH00995:48:23YTGFLT4:4:2157:19478:1364,LH00995:48:23YTGFLT4:4:2164:40439:14998,LH00995:48:23YTGFLT4:4:2195:37324:21206,LH00995:48:23YTGFLT4:4:2231:49750:13247,LH00995:48:23YTGFLT4:4:2243:13321:29123,LH00995:48:23YTGFLT4:4:2295:4948:7249,LH00995:48:23YTGFLT4:4:2323:16047:7754,LH00995:48:23YTGFLT4:4:2328:3346:24625,LH00995:48:23YTGFLT4:4:2349:5975:22621,LH00995:48:23YTGFLT4:4:2350:51635:6199,LH00995:48:23YTGFLT4:4:2354:23709:8132,LH00995:48:23YTGFLT4:4:2413:2011:5274,LH00995:48:23YTGFLT4:5:1102:9891:16820,LH00995:48:23YTGFLT4:5:1102:9899:16834,LH00995:48:23YTGFLT4:5:1131:27932:21248,LH00995:48:23YTGFLT4:5:1163:10320:10697,LH00995:48:23YTGFLT4:5:1165:11533:7334,LH00995:48:23YTGFLT4:5:1193:46806:2541,LH00995:48:23YTGFLT4:5:1285:48569:3242,LH00995:48:23YTGFLT4:5:1323:50964:16329,LH00995:48:23YTGFLT4:5:1403:6186:20379,LH00995:48:23YTGFLT4:1:1125:31394:6283,LH00995:48:23YTGFLT4:1:1130:2027:20715,LH00995:48:23YTGFLT4:1:1146:2408:11397,LH00995:48:23YTGFLT4:1:1153:28328:26418,LH00995:48:23YTGFLT4:1:1170:41369:27904,LH00995:48:23YTGFLT4:1:1175:14397:21066,LH00995:48:23YTGFLT4:1:1175:14405:21080,LH00995:48:23YTGFLT4:1:1201:35107:3999,LH00995:48:23YTGFLT4:1:1264:13758:17408,LH00995:48:23YTGFLT4:1:1286:2141:1322,LH00995:48:23YTGFLT4:1:1322:29631:2724,LH00995:48:23YTGFLT4:1:1340:28255:3452,LH00995:48:23YTGFLT4:1:1404:32802:16540,LH00995:48:23YTGFLT4:1:1450:13143:5890,LH00995:48:23YTGFLT4:1:1460:27252:28142,LH00995:48:23YTGFLT4:1:2102:28166:20029,LH00995:48:23YTGFLT4:1:2147:43610:1378,LH00995:48:23YTGFLT4:1:2170:3484:9141,LH00995:48:23YTGFLT4:1:2192:1421:2738,LH00995:48:23YTGFLT4:1:2203:25205:7390,LH00995:48:23YTGFLT4:1:2227:19882:24653,LH00995:48:23YTGFLT4:1:2227:39452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GOLGA6L4

+/+

chr15:84240116

chr15:84240078

CDS

duplication/ITD

100

1469

medium

out-of-frame

Putative_golgin_subfamily_A_member_2-like_protein_5(95%)|Putative_golgin_subfamily_A_member_2-like_protein_5(4%)

ENSG00000184206.12

ENST00000510439.7

downstream

upstream

duplicates(334),low_entropy(4)

-AGGAGAGGCTACGTGAACATGAGGAGAGGCTGTGTGAACAGGAG|AGGCTACGTGAACATGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAG

rrgyvnmrrgcvnrr|gyvnmrrgcvnrrrgyvnrrrgyvnrrrgymnrrrgyvnrrrgcvnrrr

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MCU

+/+

chr10:72692204

chr10:72692199

CDS

duplication/ITD

415

554

medium

in-frame

|Mitochondrial_calcium_uniporter(100%)

ENSG00000156026.14

ENST00000373053.7

downstream

upstream

duplicates(24),low_entropy(1)

TGGCGGCCGCCGCAGGTAGATCGCTCCTGCTGCTCCTCTCCTCTCGGGGCGG|GGGCGGCGGCGGCGGGGGCGCCGGCGGCTGCGGGGCGCTGACTGCCGGCTGCTTCCCTGGGCTGGGCGTCAGCCGCCACCGGCAGCAGCAGCACCACCGGACG___GTACACCAGAGGATCGCTTCCTGG

AAAAGRSLLLLLSSRGg|GGGGGGAGGCGALTAGCFPGLGVSRHRQQQHHRTVHQRIAS

LH00995:48:23YTGFLT4:1:1168:23070:13247,LH00995:48:23YTGFLT4:1:1188:43440:18740,LH00995:48:23YTGFLT4:1:1192:27082:6213,LH00995:48:23YTGFLT4:1:1192:27098:6213,LH00995:48:23YTGFLT4:1:1213:41070:17240,LH00995:48:23YTGFLT4:1:1233:45802:13331,LH00995:48:23YTGFLT4:1:1294:14664:2135,LH00995:48:23YTGFLT4:1:1297:2545:4965,LH00995:48:23YTGFLT4:1:1298:42194:25998,LH00995:48:23YTGFLT4:1:1298:42202:25984,LH00995:48:23YTGFLT4:1:1298:42210:25970,LH00995:48:23YTGFLT4:1:1344:20012:12938,LH00995:48:23YTGFLT4:1:1356:7003:5008,LH00995:48:23YTGFLT4:1:1373:43375:4111,LH00995:48:23YTGFLT4:1:1383:16047:12938,LH00995:48:23YTGFLT4:1:1413:34889:9449,LH00995:48:23YTGFLT4:1:1423:19712:28114,LH00995:48:23YTGFLT4:1:1428:15174:2709,LH00995:48:23YTGFLT4:1:1428:15190:2709,LH00995:48:23YTGFLT4:1:1449:29865:15573,LH00995:48:23YTGFLT4:1:1466:28862:26923,LH00995:48:23YTGFLT4:1:1478:30884:3410,LH00995:48:23YTGFLT4:1:2128:11371:11649,LH00995:48:23YTGFLT4:1:2166:47024:21836,LH00995:48:23YTGFLT4:1:2190:3476:21738,LH00995:48:23YTGFLT4:1:2274:46652:6114,LH00995:48:23YTGFLT4:1:2406:23264:26979,LH00995:48:23YTGFLT4:1:2438:36839:6633,LH00995:48:23YTGFLT4:1:2446:24048:27553,LH00995:48:23YTGFLT4:2:1150:8774:24919,LH00995:48:23YTGFLT4:2:1204:50907:1855,LH00995:48:23YTGFLT4:2:1211:45349:16077,LH00995:48:23YTGFLT4:2:1269:40592:20421,LH00995:48:23YTGFLT4:2:1350:51587:6283,LH00995:48:23YTGFLT4:2:1356:41021:13233,LH00995:48:23YTGFLT4:2:1376:5231:8833,LH00995:48:23YTGFLT4:2:1484:7027:10542,LH00995:48:23YTGFLT4:2:2118:32980:16876,LH00995:48:23YTGFLT4:2:2132:11857:2065,LH00995:48:23YTGFLT4:2:2157:16136:12756,LH00995:48:23YTGFLT4:2:2157:18094:22285,LH00995:48:23YTGFLT4:2:2170:45891:19174,LH00995:48:23YTGFLT4:2:2278:12083:10556,LH00995:48:23YTGFLT4:2:2280:16533:1196,LH00995:48:23YTGFLT4:2:2344:9503:20183,LH00995:48:23YTGFLT4:2:2377:8726:20071,LH00995:48:23YTGFLT4:2:2396:1154:28562,LH00995:48:23YTGFLT4:2:2475:37648:8567,LH00995:48:23YTGFLT4:3:1124:17180:18655,LH00995:48:23YTGFLT4:3:1143:4835:25465,LH00995:48:23YTGFLT4:3:1234:44055:19216,LH00995:48:23YTGFLT4:3:1253:22123:7936,LH00995:48:23YTGFLT4:3:1261:1704:20491,LH00995:48:23YTGFLT4:3:1337:41749:29683,LH00995:48:23YTGFLT4:3:1337:41757:29697,LH00995:48:23YTGFLT4:3:1346:32082:6493,LH00995:48:23YTGFLT4:3:2126:43626:19146,LH00995:48:23YTGFLT4:3:2162:23005:1673,LH00995:48:23YTGFLT4:3:2219:32875:20141,LH00995:48:23YTGFLT4:3:2240:28919:29683,LH00995:48:23YTGFLT4:3:2240:28927:29669,LH00995:48:23YTGFLT4:3:2293:4430:9463,LH00995:48:23YTGFLT4:3:2302:1906:14200,LH00995:48:23YTGFLT4:3:2311:43230:21990,LH00995:48:23YTGFLT4:3:2331:3726:10711,LH00995:48:23YTGFLT4:3:2360:49936:21556,LH00995:48:23YTGFLT4:3:2392:21613:19524,LH00995:48:23YTGFLT4:3:2393:32996:25704,LH00995:48:23YTGFLT4:3:2393:33150:27063,LH00995:48:23YTGFLT4:3:2410:27632:27763,LH00995:48:23YTGFLT4:3:2428:1356:15040,LH00995:48:23YTGFLT4:3:2455:9859:12000,LH00995:48:23YTGFLT4:3:2487:44403:2387,LH00995:48:23YTGFLT4:3:2497:27066:7698,LH00995:48:23YTGFLT4:4:1220:46620:29067,LH00995:48:23YTGFLT4:4:1241:19955:29347,LH00995:48:23YTGFLT4:4:1324:31847:23770,LH00995:48:23YTGFLT4:4:1330:32947:4994,LH00995:48:23YTGFLT4:4:1347:28247:21458,LH00995:48:23YTGFLT4:4:1352:4899:11229,LH00995:48:23YTGFLT4:4:1354:28862:12350,LH00995:48:23YTGFLT4:4:1425:8354:9253,LH00995:48:23YTGFLT4:4:1461:21217:20519,LH00995:48:23YTGFLT4:4:2142:42639:15391,LH00995:48:23YTGFLT4:4:2148:18280:7053,LH00995:48:23YTGFLT4:4:2166:50842:17464,LH00995:48:23YTGFLT4:4:2197:9486:23686,LH00995:48:23YTGFLT4:4:2203:44759:19034,LH00995:48:23YTGFLT4:4:2226:42793:5344,LH00995:48:23YTGFLT4:4:2272:2456:28912,LH00995:48:23YTGFLT4:4:2349:23070:3999,LH00995:48:23YTGFLT4:4:2443:22714:16974,LH00995:48:23YTGFLT4:5:1115:7529:21472,LH00995:48:23YTGFLT4:5:1125:8087:29081,LH00995:48:23YTGFLT4:5:1129:18110:4994,LH00995:48:23YTGFLT4:5:1165:15457:14101,LH00995:48:23YTGFLT4:5:1231:50543:26727,LH00995:48:23YTGFLT4:5:1242:9794:13765,LH00995:48:23YTGFLT4:5:1248:12650:22887,LH00995:48:23YTGFLT4:5:1309:24202:7726,LH00995:48:23YTGFLT4:5:1378:44856:29487,LH00995:48:23YTGFLT4:5:1379:6056:23153,LH00995:48:23YTGFLT4:5:1393:24218:3943,LH00995:48:23YTGFLT4:5:1405:4212:1406,LH00995:48:23YTGFLT4:4:2252:27163:1645,LH00995:48:23YTGFLT4:2:1440:46806:22271,LH00995:48:23YTGFLT4:4:2490:8152:16217,LH00995:48:23YTGFLT4:3:1488:35552:18866

DDX11

+/+

chr12:31084016

chr12:31084008

CDS

duplication/ITD

1327

1502

medium

in-frame

|DEAD_2(100%),Helicase_C-terminal_domain(100%)

ENSG00000013573.17

ENST00000542838.6

downstream

upstream

duplicates(203)

AtTCCTTGAAACTGGAACTGGCCCCTTACATGATGAGAAAGATGAATCCCTGTGTCTGTCTTCcTCCTGCGAAGGGGCTGCAGGCACCCCGAGGCCTGCTGGAGAACCGGCCTGGGTTACTCAG|GTTACTCAGTTTGTGCAGAAGAAAGAAGAGAGGGACCTGGTGaACCGACTgAAG___GCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAAtGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTAT...___AGTGGATGAGGATGAGGATGACCTGGAGGAAGAACACATAACTAAG___ATTTATTACTGTAGTCGG

fLETGTGPLHDEKDESLCLSSSCEGAAGTPRPAGEPAWVTQ|VTQFVQKKEERDLVnRLKAEQARRKQREEcLQQLQHRVQLK

LH00995:48:23YTGFLT4:1:1219:45900:19692,LH00995:48:23YTGFLT4:1:1263:10805:21766,LH00995:48:23YTGFLT4:1:1263:10805:21766,LH00995:48:23YTGFLT4:1:1263:10805:21766,LH00995:48:23YTGFLT4:1:1263:10805:21766,LH00995:48:23YTGFLT4:1:1313:14235:14872,LH00995:48:23YTGFLT4:1:1313:14235:14872,LH00995:48:23YTGFLT4:1:1313:14235:14872,LH00995:48:23YTGFLT4:1:1313:14235:14872,LH00995:48:23YTGFLT4:1:1432:37502:20785,LH00995:48:23YTGFLT4:1:1432:37502:20785,LH00995:48:23YTGFLT4:1:1432:37502:20785,LH00995:48:23YTGFLT4:1:1432:37502:20785,LH00995:48:23YTGFLT4:1:2102:34048:27413,LH00995:48:23YTGFLT4:1:2102:34048:27413,LH00995:48:23YTGFLT4:1:2102:34048:27413,LH00995:48:23YTGFLT4:1:2102:34048:27413,LH00995:48:23YTGFLT4:1:2160:15125:28997,LH00995:48:23YTGFLT4:1:2160:15125:28997,LH00995:48:23YTGFLT4:1:2160:15125:28997,LH00995:48:23YTGFLT4:1:2160:15125:28997,LH00995:48:23YTGFLT4:1:2164:23506:25662,LH00995:48:23YTGFLT4:1:2164:23506:25662,LH00995:48:23YTGFLT4:1:2164:23506:25662,LH00995:48:23YTGFLT4:1:2164:23506:25662,LH00995:48:23YTGFLT4:1:2217:51271:15265,LH00995:48:23YTGFLT4:1:2281:10295:4965,LH00995:48:23YTGFLT4:1:2281:10295:4965,LH00995:48:23YTGFLT4:1:2281:10295:4965,LH00995:48:23YTGFLT4:1:2281:10295:4965,LH00995:48:23YTGFLT4:1:2281:10304:4979,LH00995:48:23YTGFLT4:1:2281:10304:4979,LH00995:48:23YTGFLT4:1:2281:10304:4979,LH00995:48:23YTGFLT4:1:2281:10304:4979,LH00995:48:23YTGFLT4:1:2353:41361:15026,LH00995:48:23YTGFLT4:1:2373:49912:2177,LH00995:48:23YTGFLT4:1:2373:49912:2177,LH00995:48:23YTGFLT4:1:2373:49912:2177,LH00995:48:23YTGFLT4:1:2373:49912:2177,LH00995:48:23YTGFLT4:1:2467:44726:11047,LH00995:48:23YTGFLT4:1:2467:44726:11047,LH00995:48:23YTGFLT4:1:2496:41499:11789,LH00995:48:23YTGFLT4:1:2496:41499:11789,LH00995:48:23YTGFLT4:1:2496:41499:11789,LH00995:48:23YTGFLT4:1:2496:41499:11789,LH00995:48:23YTGFLT4:2:1109:35431:14452,LH00995:48:23YTGFLT4:2:1138:6186:18389,LH00995:48:23YTGFLT4:2:1141:35245:9758,LH00995:48:23YTGFLT4:2:1141:35245:9758,LH00995:48:23YTGFLT4:2:1141:35245:9758,LH00995:48:23YTGFLT4:2:1141:35245:9758,LH00995:48:23YTGFLT4:2:2278:50551:5470,LH00995:48:23YTGFLT4:2:2306:26322:24373,LH00995:48:23YTGFLT4:2:2394:33975:23223,LH00995:48:23YTGFLT4:2:2432:30545:5960,LH00995:48:23YTGFLT4:2:2432:30545:5960,LH00995:48:23YTGFLT4:2:2432:30545:5960,LH00995:48:23YTGFLT4:2:2432:30545:5960,LH00995:48:23YTGFLT4:3:1338:37785:27721,LH00995:48:23YTGFLT4:3:1338:37785:27721,LH00995:48:23YTGFLT4:3:1338:37785:27721,LH00995:48:23YTGFLT4:3:1338:37785:27721,LH00995:48:23YTGFLT4:3:1338:37793:27707,LH00995:48:23YTGFLT4:3:1338:37793:27707,LH00995:48:23YTGFLT4:3:1338:37793:27707,LH00995:48:23YTGFLT4:3:1338:37793:27707,LH00995:48:23YTGFLT4:3:1383:13920:2471,LH00995:48:23YTGFLT4:3:1383:13920:2471,LH00995:48:23YTGFLT4:3:1383:13920:2471,LH00995:48:23YTGFLT4:3:1383:13920:2471,LH00995:48:23YTGFLT4:3:1446:41094:16694,LH00995:48:23YTGFLT4:3:1446:41094:16694,LH00995:48:23YTGFLT4:3:1446:41094:16694,LH00995:48:23YTGFLT4:3:1446:41094:16694,LH00995:48:23YTGFLT4:3:1478:41733:21444,LH00995:48:23YTGFLT4:3:1478:41733:21444,LH00995:48:23YTGFLT4:3:1478:41733:21444,LH00995:48:23YTGFLT4:3:1478:41733:21444,LH00995:48:23YTGFLT4:3:2317:14648:15727,LH00995:48:23YTGFLT4:3:2317:14648:15727,LH00995:48:23YTGFLT4:3:2317:14648:15727,LH00995:48:23YTGFLT4:3:2317:14648:15727,LH00995:48:23YTGFLT4:3:2327:27301:20547,LH00995:48:23YTGFLT4:3:2401:48626:5022,LH00995:48:23YTGFLT4:3:2401:48626:5022,LH00995:48:23YTGFLT4:3:2401:48626:5022,LH00995:48:23YTGFLT4:3:2401:48626:5022,LH00995:48:23YTGFLT4:4:1104:4260:6255,LH00995:48:23YTGFLT4:4:1104:4260:6255,LH00995:48:23YTGFLT4:4:1104:4260:6255,LH00995:48:23YTGFLT4:4:1104:4260:6255,LH00995:48:23YTGFLT4:4:1308:18199:25213,LH00995:48:23YTGFLT4:4:1308:18199:25213,LH00995:48:23YTGFLT4:4:1308:18199:25213,LH00995:48:23YTGFLT4:4:1308:18199:25213,LH00995:48:23YTGFLT4:4:1312:23684:10837,LH00995:48:23YTGFLT4:4:1312:23684:10837,LH00995:48:23YTGFLT4:4:1312:23684:10837,LH00995:48:23YTGFLT4:4:1312:23684:10837,LH00995:48:23YTGFLT4:4:1354:12650:18347,LH00995:48:23YTGFLT4:4:1409:2707:4237,LH00995:48:23YTGFLT4:4:1409:2707:4237,LH00995:48:23YTGFLT4:4:1427:9058:22046,LH00995:48:23YTGFLT4:4:1436:12002:17619,LH00995:48:23YTGFLT4:4:1436:12002:17619,LH00995:48:23YTGFLT4:4:1465:41256:14872,LH00995:48:23YTGFLT4:4:2118:16444:16792,LH00995:48:23YTGFLT4:4:2118:16444:16792,LH00995:48:23YTGFLT4:4:2118:16444:16792,LH00995:48:23YTGFLT4:4:2118:16444:16792,LH00995:48:23YTGFLT4:4:2327:46644:21654,LH00995:48:23YTGFLT4:4:2327:46644:21654,LH00995:48:23YTGFLT4:4:2327:46644:21654,LH00995:48:23YTGFLT4:4:2327:46644:21654,LH00995:48:23YTGFLT4:4:2486:51296:26068,LH00995:48:23YTGFLT4:4:2488:25772:20505,LH00995:48:23YTGFLT4:5:1231:45147:20911,LH00995:48:23YTGFLT4:5:1231:45147:20911,LH00995:48:23YTGFLT4:5:1231:45147:20911,LH00995:48:23YTGFLT4:5:1231:45147:20911,LH00995:48:23YTGFLT4:5:1248:4641:27988,LH00995:48:23YTGFLT4:5:1248:4641:27988,LH00995:48:23YTGFLT4:5:1248:4641:27988,LH00995:48:23YTGFLT4:5:1248:4641:27988,LH00995:48:23YTGFLT4:5:1248:4649:28002,LH00995:48:23YTGFLT4:5:1248:4649:28002,LH00995:4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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

280

307

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(148)

GTCAGCACCAGAGACTGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAA?CATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA

QHQRLLTREECYVCCECGKSFSKYASLSNHQRVHTEK?HECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

LH00995:48:23YTGFLT4:1:1179:17698:8735,LH00995:48:23YTGFLT4:1:1215:25513:5316,LH00995:48:23YTGFLT4:1:1216:8394:21346,LH00995:48:23YTGFLT4:1:1216:8394:21346,LH00995:48:23YTGFLT4:1:1216:8394:21346,LH00995:48:23YTGFLT4:1:1281:30448:6297,LH00995:48:23YTGFLT4:1:1281:30448:6297,LH00995:48:23YTGFLT4:1:1281:30448:6297,LH00995:48:23YTGFLT4:1:2424:21476:27525,LH00995:48:23YTGFLT4:1:2448:20003:13205,LH00995:48:23YTGFLT4:1:2448:20003:13205,LH00995:48:23YTGFLT4:1:2448:20003:13205,LH00995:48:23YTGFLT4:2:1247:19720:15601,LH00995:48:23YTGFLT4:2:1348:27163:1168,LH00995:48:23YTGFLT4:2:1348:27171:1182,LH00995:48:23YTGFLT4:2:2110:8516:4349,LH00995:48:23YTGFLT4:2:2128:11978:21416,LH00995:48:23YTGFLT4:2:2190:34638:24905,LH00995:48:23YTGFLT4:2:2190:34638:24905,LH00995:48:23YTGFLT4:2:2190:34638:24905,LH00995:48:23YTGFLT4:2:2206:36119:13989,LH00995:48:23YTGFLT4:2:2206:36119:13989,LH00995:48:23YTGFLT4:2:2206:36119:13989,LH00995:48:23YTGFLT4:2:2410:40204:22971,LH00995:48:23YTGFLT4:2:2410:40204:22971,LH00995:48:23YTGFLT4:2:2410:40204:22971,LH00995:48:23YTGFLT4:2:2410:40212:22985,LH00995:48:23YTGFLT4:2:2410:40212:22985,LH00995:48:23YTGFLT4:2:2410:40212:22985,LH00995:48:23YTGFLT4:2:2410:40228:22985,LH00995:48:23YTGFLT4:2:2410:40228:22985,LH00995:48:23YTGFLT4:2:2410:40228:22985,LH00995:48:23YTGFLT4:2:2410:40245:22985,LH00995:48:23YTGFLT4:2:2410:40245:22985,LH00995:48:23YTGFLT4:2:2410:40245:22985,LH00995:48:23YTGFLT4:2:2498:12965:28450,LH00995:48:23YTGFLT4:3:1159:46846:7207,LH00995:48:23YTGFLT4:3:1258:8936:25367,LH00995:48:23YTGFLT4:3:1258:8936:25367,LH00995:48:23YTGFLT4:3:1258:8936:25367,LH00995:48:23YTGFLT4:3:1258:8944:25381,LH00995:48:23YTGFLT4:3:1258:8944:25381,LH00995:48:23YTGFLT4:3:1258:8944:25381,LH00995:48:23YTGFLT4:3:2139:8855:14410,LH00995:48:23YTGFLT4:3:2193:32632:6605,LH00995:48:23YTGFLT4:3:2193:32632:6605,LH00995:48:23YTGFLT4:3:2193:32632:6605,LH00995:48:23YTGFLT4:3:2197:48027:2752,LH00995:48:23YTGFLT4:3:2341:7844:10612,LH00995:48:23YTGFLT4:3:2341:7844:10612,LH00995:48:23YTGFLT4:3:2341:7844:10612,LH00995:48:23YTGFLT4:3:2342:36143:22971,LH00995:48:23YTGFLT4:3:2485:40770:15545,LH00995:48:23YTGFLT4:3:2485:40770:15545,LH00995:48:23YTGFLT4:3:2485:40770:15545,LH00995:48:23YTGFLT4:4:1198:1607:19903,LH00995:48:23YTGFLT4:4:1198:1607:19903,LH00995:48:23YTGFLT4:4:1198:1607:19903,LH00995:48:23YTGFLT4:4:1318:6250:8104,LH00995:48:23YTGFLT4:4:1401:50859:12952,LH00995:48:23YTGFLT4:4:2262:16363:28282,LH00995:48:23YTGFLT4:4:2262:16363:28282,LH00995:48:23YTGFLT4:4:2262:16363:28282,LH00995:48:23YTGFLT4:4:2345:12536:19945,LH00995:48:23YTGFLT4:4:2345:12536:19945,LH00995:48:23YTGFLT4:4:2345:12536:19945,LH00995:48:23YTGFLT4:4:2388:46328:13457,LH00995:48:23YTGFLT4:4:2388:46328:13457,LH00995:48:23YTGFLT4:4:2388:46328:13457,LH00995:48:23YTGFLT4:4:2388:46336:13443,LH00995:48:23YTGFLT4:4:2388:46336:13443,LH00995:48:23YTGFLT4:4:2388:46336:13443,LH00995:48:23YTGFLT4:5:1135:7893:29221,LH00995:48:23YTGFLT4:5:1135:7893:29221,LH00995:48:23YTGFLT4:5:1135:7893:29221,LH00995:48:23YTGFLT4:1:1120:49297:13779,LH00995:48:23YTGFLT4:1:1165:12480:4601,LH00995:48:23YTGFLT4:1:1165:12480:4601,LH00995:48:23YTGFLT4:1:1215:25513:5316,LH00995:48:23YTGFLT4:1:1216:8394:21346,LH00995:48:23YTGFLT4:1:1224:31143:22663,LH00995:48:23YTGFLT4:1:1274:6291:16638,LH00995:48:23YTGFLT4:1:1274:6299:16652,LH00995:48:23YTGFLT4:1:1281:30448:6297,LH00995:48:23YTGFLT4:1:1435:24275:7852,LH00995:48:23YTGFLT4:1:1435:24275:7852,LH00995:48:23YTGFLT4:1:1435:24283:7866,LH00995:48:23YTGFLT4:1:1435:24283:7866,LH00995:48:23YTGFLT4:1:1468:5627:2906,LH00995:48:23YTGFLT4:1:1473:38400:22257,LH00995:48:23YTGFLT4:1:1473:38400:22257,LH00995:48:23YTGFLT4:1:1473:38408:22271,LH00995:48:23YTGFLT4:1:1473:38408:22271,LH00995:48:23YTGFLT4:1:2424:21476:27525,LH00995:48:23YTGFLT4:1:2448:20003:13205,LH00995:48:23YTGFLT4:2:1244:48974:7025,LH00995:48:23YTGFLT4:2:1244:48974:7025,LH00995:48:23YTGFLT4:2:1244:48990:7025,LH00995:48:23YTGFLT4:2:1244:48990:7025,LH00995:48:23YTGFLT4:2:2110:8516:4349,LH00995:48:23YTGFLT4:2:2128:11978:21416,LH00995:48:23YTGFLT4:2:2190:34638:24905,LH00995:48:23YTGFLT4:2:2206:36119:13989,LH00995:48:23YTGFLT4:2:2311:5377:11243,LH00995:48:23YTGFLT4:2:2410:40204:22971,LH00995:48:23YTGFLT4:2:2410:40212:22985,LH00995:48:23YTGFLT4:2:2410:40228:22985,LH00995:48:23YTGFLT4:2:2410:40245:22985,LH00995:48:23YTGFLT4:2:2444:51126:25185,LH00995:48:23YTGFLT4:3:1135:45867:23167,LH00995:48:23YTGFLT4:3:1135:45867:23167,LH00995:48:23YTGFLT4:3:1258:8936:25367,LH00995:48:23YTGFLT4:3:1258:8944:25381,LH00995:48:23YTGFLT4:3:1277:3443:29417,LH00995:48:23YTGFLT4:3:2139:8855:14410,LH00995:48:23YTGFLT4:3:2193:32632:6605,LH00995:48:23YTGFLT4:3:2197:48027:2752,LH00995:48:23YTGFLT4:3:2265:10668:14382,LH00995:48:23YTGFLT4:3:2265:10668:14382,LH00995:48:23YTGFLT4:3:2296:25141:21934,LH00995:48:23YTGFLT4:3:2341:7844:10612,LH00995:48:23YTGFLT4:3:2485:40770:15545,LH00995:48:23YTGFLT4:4:1198:1607:19903,LH00995:48:23YTGFLT4:4:1198:8944:15713,LH00995:48:23YTGFLT4:4:1198:8944:15713,LH00995:48:23YTGFLT4:4:1198:8944:15713,LH00995:48:23YTGFLT4:4:1223:45584:20799,LH00995:48:23YTGFLT4:4:1223:45584:20799,LH00995:48:23YTGFLT4:4:1223:45600:20799,LH00995:48:23YTGFLT4:4:1223:45600:20799,LH00995:48:23YTGFLT4:4:1223:45608:20785,LH00995:48:23YTGFLT4:4:1223:45608:20785,LH00995:48:23YTGFLT4:4:1262:24866:17871,LH00995:48:23YTGFLT4:4:1262:24866:17871,LH00995:48:23YTGFLT4:4:2262:16363:28282,LH00995:48:23YTGFLT4:4:2345:12536:19945,LH00995:48:23YTGFLT4:4:2388:46328:13457,LH00995:48:23YTGFLT4:4:2388:46336:13443,LH00995:48:23YTGFLT4:5:1113:37211:29305,LH00995:48:23YTGFLT4:5:1135:7893:29221,LH00995:48:23YTGFLT4:5:1363:27187:3340,LH00995:48:23YTGFLT4:1:2134:46191:23672,LH00995:48:23YTGFLT4:2:2448:8491:11117,LH00995:48:23YTGFLT4:3:1325:35091:26194,LH00995:48:23YTGFLT4:3:1325:35107:26194,LH00995:48:23YTGFLT4:1:1102:43570:2990,LH00995:48:23YTGFLT4:1:1167:23935:24695,LH00995:48:23YTGFLT4:1:1167:23935:24695,LH00995:48:23YTGFLT4:1:1167:23951:24695,LH00995:48:23YTGFLT4:1:1167:23951:24695,LH00995:48:23YTGFLT4:1:1179:17698:8735,LH00995:48:23YTGFLT4:1:1179:17698:8735,LH00995:48:23YTGFLT4:1:1330:1639:14438,LH00995:48:23YTGFLT4:1:1330:1655:14438,LH00995:48:23YTGFLT4:1:1443:40722:10136,LH00995:48:23YTGFLT4:1:2197:48464:6843,LH00995:48:23YTGFLT4:1:2332:21896:13233,LH00995:48:23YTGFLT4:1:2460:25254:9407,LH00995:48:23YTGFLT4:2:1247:19720:15601,LH00995:48:23YTGFLT4:2:1247:19720:15601,LH00995:48:23YTGFLT4:2:1348:27163:1168,LH00995:48:23YTGFLT4:2:1348:27163:1168,LH00995:48:23YTGFLT4:2:1348:27171:1182,LH00995:48:23YTGFLT4:2:1348:27171:1182,LH00995:48:23YTGFLT4:2:2443:2731:19076,LH00995:48:23YTGFLT4:3:1159:46846:7207,LH00995:48:23YTGFLT4:3:1159:46846:7207,LH00995:48:23YTGFLT4:3:1252:32624:23826,LH00995:48:23YTGFLT4:3:1293:32494:16259,LH00995:48:23YTGFLT4:3:1293:32502:16273,LH00995:48:23YTGFLT4:3:1357:41474:17661,LH00995:48:23YTGFLT4:3:1361:38578:25507,LH00995:48:23YTGFLT4:3:2342:36143:22971,LH00995:48:23YTGFLT4:3:2342:36143:22971,LH00995:48:23YTGFLT4:4:1318:6250:8104,LH00995:48:23YTGFLT4:4:1318:6250:8104,LH00995:48:23YTGFLT4:4:1401:50859:12952,LH00995:48:23YTGFLT4:4:1401:50859:12952,LH00995:48:23YTGFLT4:4:2276:30820:23336,LH00995:48:23YTGFLT4:4:2451:49475:28912,LH00995:48:23YTGFLT4:4:2451:49491:28912,LH00995:48:23YTGFLT4:5:1153:30286:12714,LH00995:48:23YTGFLT4:5:1162:23013:1659,LH00995:48:23YTGFLT4:5:1233:26314:7488,LH00995:48:23YTGFLT4:5:1403:9632:28730,LH00995:48:23YTGFLT4:1:1102:43570:2990,LH00995:48:23YTGFLT4:1:1179:17698:8735,LH00995:48:23YTGFLT4:1:1330:1639:14438,LH00995:48:23YTGFLT4:1:1330:1655:14438,LH00995:48:23YTGFLT4:1:2134:46191:23672,LH00995:48:23YTGFLT4:1:2134:46191:23672,LH00995:48:23YTGFLT4:1:2197:48464:6843,LH00995:48:23YTGFLT4:1:2460:25254:9407,LH00995:48:23YTGFLT4:2:1113:18992:9183,LH00995:48:23YTGFLT4:2:2443:2731:19076,LH00995:48:23YTGFLT4:3:1159:46846:7207,LH00995:48:23YTGFLT4:3:1264:14130:6058,LH00995:48:23YTGFLT4:3:1293:32494:16259,LH00995:48:23YTGFLT4:3:1293:32502:16273,LH00995:48:23YTGFLT4:3:1325:35091:26194,LH00995:48:23YTGFLT4:3:1325:35107:26194,LH00995:48:23YTGFLT4:3:1357:41474:17661,LH00995:48:23YTGFLT4:3:1361:38578:25507,LH00995:48:23YTGFLT4:3:2342:36143:22971,LH00995:48:23YTGFLT4:4:1250:29817:24877,LH00995:48:23YTGFLT4:4:1250:29817:24877,LH00995:48:23YTGFLT4:4:1318:6250:8104,LH00995:48:23YTGFLT4:4:1401:50859:12952,LH00995:48:23YTGFLT4:4:1452:21953:16077,LH00995:48:23YTGFLT4:4:1452:21953:16077,LH00995:48:23YTGFLT4:4:1486:1380:10374,LH00995:48:23YTGFLT4:4:2276:30820:23336,LH00995:48:23YTGFLT4:4:2451:49475:28912,LH00995:48:23YTGFLT4:4:2451:49491:28912,LH00995:48:23YTGFLT4:5:1153:30286:12714,LH00995:48:23YTGFLT4:5:1162:23013:1659,LH00995:48:23YTGFLT4:5:1233:26314:7488,LH00995:48:23YTGFLT4:5:1403:9632:28730,LH00995:48:23YTGFLT4:2:2448:8491:11117,LH00995:48:23YTGFLT4:2:2448:8491:11117

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

2849

236

medium

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(18),mismappers(5)

GTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGA

LH00995:48:23YTGFLT4:1:1120:27098:13723,LH00995:48:23YTGFLT4:1:1148:15044:6325,LH00995:48:23YTGFLT4:1:1171:31912:4853,LH00995:48:23YTGFLT4:1:1192:35067:12504,LH00995:48:23YTGFLT4:1:1345:39872:12336,LH00995:48:23YTGFLT4:1:1415:50923:8973,LH00995:48:23YTGFLT4:1:1438:23474:25606,LH00995:48:23YTGFLT4:1:1479:15837:8595,LH00995:48:23YTGFLT4:1:2112:21581:3046,LH00995:48:23YTGFLT4:1:2208:2602:21066,LH00995:48:23YTGFLT4:1:2311:46013:25886,LH00995:48:23YTGFLT4:1:2314:14300:22467,LH00995:48:23YTGFLT4:1:2366:33587:4083,LH00995:48:23YTGFLT4:1:2369:14664:24387,LH00995:48:23YTGFLT4:2:1286:5061:10893,LH00995:48:23YTGFLT4:2:1421:24607:11593,LH00995:48:23YTGFLT4:2:1441:14688:9323,LH00995:48:23YTGFLT4:2:1467:17407:2625,LH00995:48:23YTGFLT4:2:1487:43133:10388,LH00995:48:23YTGFLT4:2:2189:24817:21458,LH00995:48:23YTGFLT4:2:2193:48804:21528,LH00995:48:23YTGFLT4:2:2196:35099:22285,LH00995:48:23YTGFLT4:2:2202:28385:6030,LH00995:48:23YTGFLT4:2:2202:28393:6044,LH00995:48:23YTGFLT4:2:2293:4018:29375,LH00995:48:23YTGFLT4:2:2308:11849:3004,LH00995:48:23YTGFLT4:2:2338:51336:28408,LH00995:48:23YTGFLT4:2:2341:24081:17633,LH00995:48:23YTGFLT4:2:2383:3872:6899,LH00995:48:23YTGFLT4:2:2383:3888:6899,LH00995:48:23YTGFLT4:3:1103:33740:22789,LH00995:48:23YTGFLT4:3:1167:11962:4069,LH00995:48:23YTGFLT4:3:1273:16703:29599,LH00995:48:23YTGFLT4:3:2220:39266:7390,LH00995:48:23YTGFLT4:3:2447:28045:12224,LH00995:48:23YTGFLT4:4:1256:36467:10556,LH00995:48:23YTGFLT4:4:2423:3516:3144,LH00995:48:23YTGFLT4:5:1159:39581:3172,LH00995:48:23YTGFLT4:5:1179:19170:14059,LH00995:48:23YTGFLT4:5:1179:32689:21108,LH00995:48:23YTGFLT4:5:1193:5029:9295,LH00995:48:23YTGFLT4:5:1253:10069:4741,LH00995:48:23YTGFLT4:5:1390:42219:2303,LH00995:48:23YTGFLT4:5:1390:42227:2317,LH00995:48:23YTGFLT4:1:1434:19809:12840,LH00995:48:23YTGFLT4:1:1468:6089:2976,LH00995:48:23YTGFLT4:1:2129:18086:22271,LH00995:48:23YTGFLT4:1:2129:18102:22271,LH00995:48:23YTGFLT4:1:2212:17293:16329,LH00995:48:23YTGFLT4:1:2212:17309:16329,LH00995:48:23YTGFLT4:1:2212:17318:16343,LH00995:48:23YTGFLT4:1:2285:23110:21360,LH00995:48:23YTGFLT4:1:2285:23118:21374,LH00995:48:23YTGFLT4:1:2347:9122:10220,LH00995:48:23YTGFLT4:2:1403:41717:26516,LH00995:48:23YTGFLT4:2:1456:45171:21542,LH00995:48:23YTGFLT4:2:2379:49669:26390,LH00995:48:23YTGFLT4:2:2383:12277:26362,LH00995:48:23YTGFLT4:3:1304:41571:23238,LH00995:48:23YTGFLT4:3:1402:27770:7207,LH00995:48:23YTGFLT4:3:1481:26362:10682,LH00995:48:23YTGFLT4:4:1233:40002:16764,LH00995:48:23YTGFLT4:4:1233:40010:16778,LH00995:48:23YTGFLT4:4:1274:43731:29025,LH00995:48:23YTGFLT4:4:1369:43319:11635,LH00995:48:23YTGFLT4:4:2342:19016:2836,LH00995:48:23YTGFLT4:4:2346:36580:14480,LH00995:48:23YTGFLT4:4:2388:14146:18305,LH00995:48:23YTGFLT4:4:2465:32494:5274,LH00995:48:23YTGFLT4:5:1110:18879:7474,LH00995:48:23YTGFLT4:5:1228:4762:9393,LH00995:48:23YTGFLT4:3:2339:43634:23616,LH00995:48:23YTGFLT4:4:2304:1793:17142

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2798

236

low

out-of-frame

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

GGACATACAAATTTTGCTTCAGCAATGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGG

TYKFCFSNEFSTFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:48:23YTGFLT4:5:1294:19696:14298,LH00995:48:23YTGFLT4:4:2471:18588:10472

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2701

436

medium

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000464640.5

ENST00000525967.5

downstream

upstream

duplicates(22),mismappers(1),mismatches(8)

CGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG___...TCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|G?TGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGAC

LH00995:48:23YTGFLT4:1:1141:14891:5722,LH00995:48:23YTGFLT4:1:1192:39241:7740,LH00995:48:23YTGFLT4:1:1194:32300:21220,LH00995:48:23YTGFLT4:1:1197:23555:8819,LH00995:48:23YTGFLT4:1:1339:38521:22355,LH00995:48:23YTGFLT4:1:1384:49370:15503,LH00995:48:23YTGFLT4:1:1480:36531:25185,LH00995:48:23YTGFLT4:1:2110:6445:11719,LH00995:48:23YTGFLT4:1:2112:5563:18487,LH00995:48:23YTGFLT4:1:2148:6234:12140,LH00995:48:23YTGFLT4:1:2233:39921:9421,LH00995:48:23YTGFLT4:2:1114:14162:20547,LH00995:48:23YTGFLT4:2:1136:18410:1560,LH00995:48:23YTGFLT4:2:1385:33684:2766,LH00995:48:23YTGFLT4:2:1385:33692:2780,LH00995:48:23YTGFLT4:2:1428:23118:11481,LH00995:48:23YTGFLT4:2:2235:42073:10626,LH00995:48:23YTGFLT4:2:2238:47849:25536,LH00995:48:23YTGFLT4:2:2278:49370:6171,LH00995:48:23YTGFLT4:2:2435:42502:18235,LH00995:48:23YTGFLT4:2:2481:39703:17310,LH00995:48:23YTGFLT4:2:2484:18660:15307,LH00995:48:23YTGFLT4:3:1194:25383:25746,LH00995:48:23YTGFLT4:3:1384:22422:15068,LH00995:48:23YTGFLT4:3:1462:9842:3228,LH00995:48:23YTGFLT4:3:1462:9850:3242,LH00995:48:23YTGFLT4:3:1462:9859:3228,LH00995:48:23YTGFLT4:3:1490:28676:17885,LH00995:48:23YTGFLT4:3:1490:28684:17871,LH00995:48:23YTGFLT4:3:2265:25367:12378,LH00995:48:23YTGFLT4:3:2315:44993:26166,LH00995:48:23YTGFLT4:3:2416:13709:15979,LH00995:48:23YTGFLT4:3:2428:29889:9113,LH00995:48:23YTGFLT4:3:2428:29897:9099,LH00995:48:23YTGFLT4:4:1150:32858:18992,LH00995:48:23YTGFLT4:4:1150:32867:19006,LH00995:48:23YTGFLT4:4:1194:9883:6325,LH00995:48:23YTGFLT4:4:1196:44006:18431,LH00995:48:23YTGFLT4:4:1266:31054:6479,LH00995:48:23YTGFLT4:4:1266:31062:6493,LH00995:48:23YTGFLT4:4:1347:25529:12350,LH00995:48:23YTGFLT4:4:1347:31896:9057,LH00995:48:23YTGFLT4:4:1396:52185:12476,LH00995:48:23YTGFLT4:4:1396:52194:12462,LH00995:48:23YTGFLT4:4:1396:52202:12476,LH00995:48:23YTGFLT4:4:1456:20732:8525,LH00995:48:23YTGFLT4:4:2135:27835:12000,LH00995:48:23YTGFLT4:4:2152:33222:2247,LH00995:48:23YTGFLT4:4:2227:21209:13387,LH00995:48:23YTGFLT4:4:2257:5967:20113,LH00995:48:23YTGFLT4:4:2284:49168:13471,LH00995:48:23YTGFLT4:5:1106:28611:4937,LH00995:48:23YTGFLT4:5:1122:19025:10416,LH00995:48:23YTGFLT4:5:1311:29428:5736,LH00995:48:23YTGFLT4:5:1361:42097:18123,LH00995:48:23YTGFLT4:5:1361:42113:18123,LH00995:48:23YTGFLT4:1:1284:45066:10178,LH00995:48:23YTGFLT4:1:2442:15060:9295,LH00995:48:23YTGFLT4:2:1374:46191:24625,LH00995:48:23YTGFLT4:2:1398:7059:3873,LH00995:48:23YTGFLT4:2:1398:7068:3859,LH00995:48:23YTGFLT4:2:1437:3257:13037,LH00995:48:23YTGFLT4:2:2118:46709:15601,LH00995:48:23YTGFLT4:2:2304:42615:7978,LH00995:48:23YTGFLT4:2:2318:30504:20043,LH00995:48:23YTGFLT4:3:1118:49402:16652,LH00995:48:23YTGFLT4:3:1118:49419:16652,LH00995:48:23YTGFLT4:3:1195:11768:20127,LH00995:48:23YTGFLT4:3:1195:11776:20141,LH00995:48:23YTGFLT4:3:1195:11784:20127,LH00995:48:23YTGFLT4:3:1237:2537:2289,LH00995:48:23YTGFLT4:4:1118:28279:23924,LH00995:48:23YTGFLT4:4:1322:2157:4629,LH00995:48:23YTGFLT4:4:1426:41693:29585,LH00995:48:23YTGFLT4:4:2148:9608:8595,LH00995:48:23YTGFLT4:4:2161:15368:20617,LH00995:48:23YTGFLT4:4:2225:40325:17324,LH00995:48:23YTGFLT4:4:2391:21816:2724,LH00995:48:23YTGFLT4:5:1190:45366:7109

STX16

NPEPL1

+/+

chr20:58671297

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3445

436

low

out-of-frame

Syntaxin(99%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(2)

GCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACcCCTGGGTGGAGC

QNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQ|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1467:19194:1939,LH00995:48:23YTGFLT4:2:1390:45228:11551,LH00995:48:23YTGFLT4:2:1390:45236:11537,LH00995:48:23YTGFLT4:2:1390:45252:11537

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

6958

3675

medium

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(25),low_entropy(4)

GAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCTGCCCATTTTCCTGTTCTTCTGTCCTTCAATACTTCTG

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:1189:44095:19819,LH00995:48:23YTGFLT4:1:1221:24866:9239,LH00995:48:23YTGFLT4:1:2215:50640:27091,LH00995:48:23YTGFLT4:1:2236:2480:20015,LH00995:48:23YTGFLT4:1:2381:24453:13289,LH00995:48:23YTGFLT4:2:1202:8499:21108,LH00995:48:23YTGFLT4:2:1411:5951:11537,LH00995:48:23YTGFLT4:2:1482:8750:4447,LH00995:48:23YTGFLT4:2:2191:37850:2499,LH00995:48:23YTGFLT4:2:2246:33756:17689,LH00995:48:23YTGFLT4:2:2269:18094:20099,LH00995:48:23YTGFLT4:3:1234:9770:9800,LH00995:48:23YTGFLT4:3:1422:45325:4657,LH00995:48:23YTGFLT4:3:1451:8952:24415,LH00995:48:23YTGFLT4:3:1460:28676:27301,LH00995:48:23YTGFLT4:3:1460:28684:27315,LH00995:48:23YTGFLT4:3:2130:22261:2850,LH00995:48:23YTGFLT4:3:2312:3920:21836,LH00995:48:23YTGFLT4:3:2369:44290:3985,LH00995:48:23YTGFLT4:3:2422:46951:7249,LH00995:48:23YTGFLT4:4:1233:16217:15026,LH00995:48:23YTGFLT4:4:2364:28158:10430,LH00995:48:23YTGFLT4:4:2431:25302:1280,LH00995:48:23YTGFLT4:4:2481:41571:12644,LH00995:48:23YTGFLT4:5:1344:7885:2135,LH00995:48:23YTGFLT4:1:1178:15991:11327,LH00995:48:23YTGFLT4:1:1205:34630:25536,LH00995:48:23YTGFLT4:1:1232:10740:18263,LH00995:48:23YTGFLT4:1:1232:10748:18277,LH00995:48:23YTGFLT4:1:1442:40560:22915,LH00995:48:23YTGFLT4:1:1442:40568:22901,LH00995:48:23YTGFLT4:1:2132:10473:23041,LH00995:48:23YTGFLT4:1:2216:16468:23336,LH00995:48:23YTGFLT4:2:1263:27106:22705,LH00995:48:23YTGFLT4:2:1265:1057:16035,LH00995:48:23YTGFLT4:2:1265:1073:16035,LH00995:48:23YTGFLT4:2:1289:12836:14186,LH00995:48:23YTGFLT4:2:1289:12852:14186,LH00995:48:23YTGFLT4:2:1372:20634:2527,LH00995:48:23YTGFLT4:2:1372:20643:2541,LH00995:48:23YTGFLT4:2:1419:49273:12532,LH00995:48:23YTGFLT4:2:1419:49281:12546,LH00995:48:23YTGFLT4:2:1439:34096:21612,LH00995:48:23YTGFLT4:2:2183:35552:15839,LH00995:48:23YTGFLT4:2:2443:44120:17759,LH00995:48:23YTGFLT4:2:2448:34485:3228,LH00995:48:23YTGFLT4:3:1332:39274:21808,LH00995:48:23YTGFLT4:3:1352:29404:9842,LH00995:48:23YTGFLT4:3:1355:4463:27792,LH00995:48:23YTGFLT4:3:1436:38044:22117,LH00995:48:23YTGFLT4:3:1484:8330:3382,LH00995:48:23YTGFLT4:3:1486:20246:2555,LH00995:48:23YTGFLT4:3:1498:37300:10654,LH00995:48:23YTGFLT4:3:2313:2869:19202,LH00995:48:23YTGFLT4:4:1171:6914:21976,LH00995:48:23YTGFLT4:4:1371:21039:9758,LH00995:48:23YTGFLT4:4:2219:41337:24092,LH00995:48:23YTGFLT4:4:2219:41345:24078,LH00995:48:23YTGFLT4:4:2219:41353:24064,LH00995:48:23YTGFLT4:4:2219:41353:24092,LH00995:48:23YTGFLT4:4:2340:8160:27834,LH00995:48:23YTGFLT4:4:2367:30027:13947,LH00995:48:23YTGFLT4:4:2473:24987:11075,LH00995:48:23YTGFLT4:5:1202:45414:26558,LH00995:48:23YTGFLT4:5:1212:23506:5540,LH00995:48:23YTGFLT4:5:1306:14211:21080,LH00995:48:23YTGFLT4:5:1415:11711:4923,LH00995:48:23YTGFLT4:5:1415:11719:4909,LH00995:48:23YTGFLT4:4:1218:19987:7880,LH00995:48:23YTGFLT4:4:1218:20003:7880,LH00995:48:23YTGFLT4:4:1218:20020:7880,LH00995:48:23YTGFLT4:4:1218:20028:7866,LH00995:48:23YTGFLT4:4:2498:2262:21290,LH00995:48:23YTGFLT4:4:2498:2270:21304

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

6958

4091

medium

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

duplicates(11)

CGCGAGAACGCGGGCGCGCTGCGCGCCATCGAAGCCCTGCACGGCCACGAGCTGCGGCCGGGGCGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGC

RENAGALRAIEALHGHELRPGRALVVEMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRS

LH00995:48:23YTGFLT4:1:1303:18216:3382,LH00995:48:23YTGFLT4:1:2212:32252:20071,LH00995:48:23YTGFLT4:2:1319:33481:4069,LH00995:48:23YTGFLT4:2:1319:33489:4055,LH00995:48:23YTGFLT4:3:1219:19567:24218,LH00995:48:23YTGFLT4:3:2262:46620:11495,LH00995:48:23YTGFLT4:3:2313:34387:27441,LH00995:48:23YTGFLT4:3:2482:20909:4853,LH00995:48:23YTGFLT4:4:2401:21549:12602,LH00995:48:23YTGFLT4:4:2479:28927:29613,LH00995:48:23YTGFLT4:4:2479:9770:11425,LH00995:48:23YTGFLT4:4:2479:9778:11411,LH00995:48:23YTGFLT4:5:1222:34242:1995,LH00995:48:23YTGFLT4:1:1321:35269:1841,LH00995:48:23YTGFLT4:3:1279:51385:5288,LH00995:48:23YTGFLT4:3:1414:6259:21794,LH00995:48:23YTGFLT4:5:1365:40617:14522,LH00995:48:23YTGFLT4:4:1218:19987:7880,LH00995:48:23YTGFLT4:4:1218:20003:7880,LH00995:48:23YTGFLT4:4:1218:20020:7880,LH00995:48:23YTGFLT4:4:1218:20028:7866,LH00995:48:23YTGFLT4:4:2498:2262:21290,LH00995:48:23YTGFLT4:4:2498:2270:21304

RBM14

RBM4

+/+

chr11:66617057

chr11:66643859

CDS/splice-site

deletion/read-through

6958

2276

low

out-of-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000510173.6

downstream

upstream

duplicates(4)

AGCTGCGCCGTCATGAAACAGTTCGCCTTCGTGCACATGCGCGAGAACGCGGGCGCGCTGCGCGCCATCGAAGCCCTGCACGGCCACGAGCTGCGGCCGGGGCGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|ACACCTGTTGCCGACCTCAGGAGCTGCTGCCACAGCTGCTGCTGCAGCAGCAGCCGCTGCTGCTGTTACTGCAGCTTCCACTTCAT

SCAVMKQFAFVHMRENAGALRAIEALHGHELRPGRALVVEMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|dtccrpqellpqlllqqqplllllqlpl

LH00995:48:23YTGFLT4:2:1475:6202:1939,LH00995:48:23YTGFLT4:3:1274:42299:24555,LH00995:48:23YTGFLT4:4:1218:19987:7880,LH00995:48:23YTGFLT4:4:1218:20003:7880,LH00995:48:23YTGFLT4:4:1218:20020:7880,LH00995:48:23YTGFLT4:4:1218:20028:7866,LH00995:48:23YTGFLT4:4:2498:2262:21290,LH00995:48:23YTGFLT4:4:2498:2270:21304

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

6958

6037

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(182),read_through(418)

CGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGC

RPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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GFLT4:1:2279:29307:16400,LH00995:48:23YTGFLT4:1:2284:15562:5036,LH00995:48:23YTGFLT4:1:2285:21654:6591,LH00995:48:23YTGFLT4:1:2289:4956:23490,LH00995:48:23YTGFLT4:1:2293:24218:16133,LH00995:48:23YTGFLT4:1:2297:52194:6213,LH00995:48:23YTGFLT4:1:2304:20416:22887,LH00995:48:23YTGFLT4:1:2332:34541:3326,LH00995:48:23YTGFLT4:1:2336:10716:22060,LH00995:48:23YTGFLT4:1:2336:33384:6395,LH00995:48:23YTGFLT4:1:2342:11638:22621,LH00995:48:23YTGFLT4:1:2353:35350:21514,LH00995:48:23YTGFLT4:1:2365:28247:14564,LH00995:48:23YTGFLT4:1:2365:28255:14578,LH00995:48:23YTGFLT4:1:2368:14834:13947,LH00995:48:23YTGFLT4:1:2368:49985:6367,LH00995:48:23YTGFLT4:1:2382:51692:4755,LH00995:48:23YTGFLT4:1:2390:32939:27119,LH00995:48:23YTGFLT4:1:2391:44783:7249,LH00995:48:23YTGFLT4:1:2404:36685:16736,LH00995:48:23YTGFLT4:1:2421:35957:6002,LH00995:48:23YTGFLT4:1:2422:25262:6563,LH00995:48:23YTGFLT4:1:2431:7779:1364,LH00995:48:23YTGFLT4:1:2435:43642:22201,LH00995:48:23YTGFLT4:1:2449:32284:26965,LH00995:48:23YTGFLT4:1:2497:47695:1729,LH00995:48:23YTGFLT4:2:1110:22997:19931,LH00995:48:23YTGFLT4:2:1120:4511:6297,LH00995:48:23YTGFLT4:2:1127:10061:17703,LH00995:48:23YTGFLT4:2:1134:2068:15909,LH00995:48:23YTGFLT4:2:1137:42032:22691,LH00995:48:23YTGFLT4:2:1138:50365:24316,LH00995:48:23YTGFLT4:2:1148:40576:5512,LH00995:48:23YTGFLT4:2:1153:29064:3424,LH00995:48:23YTGFLT4:2:1156:39711:27834,LH00995:48:23YTGFLT4:2:1157:21063:27455,LH00995:48:23YTGFLT4:2:1159:18863:7137,LH00995:48:23YTGFLT4:2:1160:21209:5820,LH00995:48:23YTGFLT4:2:1162:41248:3844,LH00995:48:23YTGFLT4:2:1162:6623:23910,LH00995:48:23YTGFLT4:2:1163:47186:17128,LH00995:48:23YTGFLT4:2:1163:47194:17114,LH00995:48:23YTGFLT4:2:1163:47202:17128,LH00995:48:23YTGFLT4:2:1169:32422:29641,LH00995:48:23YTGFLT4:2:1177:13434:17689,LH00995:48:23YTGFLT4:2:1189:50624:23252,LH00995:48:23YTGFLT4:2:1192:40188:10921,LH00995:48:23YTGFLT4:2:1234:5854:16442,LH00995:48:23YTGFLT4:2:1237:20117:23041,LH00995:48:23YTGFLT4:2:1243:16007:11131,LH00995:48:23YTGFLT4:2:1246:18240:15699,LH00995:48:23YTGFLT4:2:1246:18248:15685,LH00995:48:23YTGFLT4:2:1246:18256:15671,LH00995:48:23YTGFLT4:2:1246:18256:15699,LH00995:48:23YTGFLT4:2:1246:18264:15713,LH00995:48:23YTGFLT4:2:1268:25529:23364,LH00995:48:23YTGFLT4:2:1289:50252:8567,LH00995:48:23YTGFLT4:2:1290:31613:19300,LH00995:48:23YTGFLT4:2:1293:37939:16778,LH00995:48:23YTGFLT4:2:1293:50495:24597,LH00995:48:23YTGFLT4:2:1293:50503:24583,LH00995:48:23YTGFLT4:2:1298:8443:11145,LH00995:48:23YTGFLT4:2:1298:8459:11145,LH00995:48:23YTGFLT4:2:1302:6453:1140,LH00995:48:23YTGFLT4:2:1311:33530:13597,LH00995:48:23YTGFLT4:2:1337:36709:4391,LH00995:48:23YTGFLT4:2:1345:12795:20393,LH00995:48:23YTGFLT4:2:1350:50891:13541,LH00995:48:23YTGFLT4:2:1350:8046:18641,LH00995:48:23YTGFLT4:2:1380:35957:1238,LH00995:48:23YTGFLT4:2:1380:35965:1252,LH00995:48:23YTGFLT4:2:1381:42664:2037,LH00995:48:23YTGFLT4:2:1381:42672:2023,LH00995:48:23YTGFLT4:2:1381:42680:2037,LH00995:48:23YTGFLT4:2:1385:38052:14984,LH00995:48:23YTGFLT4:2:1396:39306:26124,LH00995:48:23YTGFLT4:2:1403:3467:17380,LH00995:48:23YTGFLT4:2:1421:43739:9309,LH00995:48:23YTGFLT4:2:1440:47380:15026,LH00995:48:23YTGFLT4:2:1450:40690:1196,LH00995:48:23YTGFLT4:2:1453:25497:28997,LH00995:48:23YTGFLT4:2:1461:6315:20323,LH00995:48:23YTGFLT4:2:1472:29388:28730,LH00995:48:23YTGFLT4:2:1475:33279:14732,LH00995:48:23YTGFLT4:2:1479:46539:11019,LH00995:48:23YTGFLT4:2:1480:21136:11972,LH00995:48:23YTGFLT4:2:1480:21144:11958,LH00995:48:23YTGFLT4:2:1480:21152:11972,LH00995:48:23YTGFLT4:2:1491:21565:19468,LH00995:48:23YTGFLT4:2:1498:46458:16400,LH00995:48:23YTGFLT4:2:1498:46466:16385,LH00995:48:23YTGFLT4:2:1498:46482:16385,LH00995:48:23YTGFLT4:2:2112:10279:24723,LH00995:48:23YTGFLT4:2:2118:13362:9323,LH00995:48:23YTGFLT4:2:2126:42186:10823,LH00995:48:23YTGFLT4:2:2131:38845:19861,LH00995:48:23YTGFLT4:2:2132:37785:24835,LH00995:48:23YTGFLT4:2:2144:31038:12364,LH00995:48:23YTGFLT4:2:2144:31046:12350,LH00995:48:23YTGFLT4:2:2144:31062:12350,LH00995:48:23YTGFLT4:2:2151:36426:14970,LH00995:48:23YTGFLT4:2:2151:36442:14970,LH00995:48:23YTGFLT4:2:2161:40447:19889,LH00995:48:23YTGFLT4:2:2162:36062:24373,LH00995:48:23YTGFLT4:2:2169:14009:11117,LH00995:48:23YTGFLT4:2:2171:4552:12532,LH00995:48:23YTGFLT4:2:2176:11404:27567,LH00995:48:23YTGFLT4:2:2180:19162:22060,LH00995:48:23YTGFLT4:2:2186:25440:16063,LH00995:48:23YTGFLT4:2:2192:48140:21052,LH00995:48:23YTGFLT4:2:2194:30820:23139,LH00995:48:23YTGFLT4:2:2197:30884:5344,LH00995:48:23YTGFLT4:2:2201:25521:28870,LH00995:48:23YTGFLT4:2:2208:50462:28072,LH00995:48:23YTGFLT4:2:2211:40083:9814,LH00995:48:23YTGFLT4:2:2212:31847:12728,LH00995:48:23YTGFLT4:2:2215:34905:22145,LH00995:48:23YTGFLT4:2:2221:50778:10598,LH00995:48:23YTGFLT4:2:2222:28854:14914,LH00995:48:23YTGFLT4:2:2228:21152:15727,LH00995:48:23YTGFLT4:2:2234:13467:26348,LH00995:48:23YTGFLT4:2:2238:12520:13107,LH00995:48:23YTGFLT4:2:2238:22503:8987,LH00995:48:23YTGFLT4:2:2243:39670:12154,LH00995:48:23YTGFLT4:2:2258:17342:2766,LH00995:48:23YTGFLT4:2:2262:32972:21458,LH00995:48:23YTGFLT4:2:2263:30804:24709,LH00995:48:23YTGFLT4:2:2265:26006:1687,LH00995:48:23YTGFLT4:2:2279:11420:29501,LH00995:48:23YTGFLT4:2:2280:45778:28842,LH00995:48:23YTGFLT4:2:2286:45592:27427,LH00995:48:23YTGFLT4:2:2291:7399:23826,LH00995:48:23YTGFLT4:2:2294:32802:19202,LH00995:48:23YTGFLT4:2:2301:35334:15489,LH00995:48:23YTGFLT4:2:2319:49621:21346,LH00995:48:23YTGFLT4:2:2323:36968:16189,LH00995:48:23YTGFLT4:2:2336:28951:17913,LH00995:48:23YTGFLT4:2:2348:12941:6213,LH00995:48:23YTGFLT4:2:2350:27568:8258,LH00995:48:23YTGFLT4:2:2350:38740:24835,LH00995:48:23YTGFLT4:2:2353:45446:21542,LH00995:48:23YTGFLT4:2:2379:26217:26264,LH00995:48:23YTGFLT4:2:2383:25060:17506,LH00995:48:23YTGFLT4:2:2383:43303:7908,LH00995:48:23YTGFLT4:2:2385:13167:7670,LH00995:48:23YTGFLT4:2:2432:31653:24611,LH00995:48:23YTGFLT4:2:2443:16169:5526,LH00995:48:23YTGFLT4:2:2446:22010:12308,LH00995:48:23YTGFLT4:2:2447:27131:28240,LH00995:48:23YTGFLT4:2:2451:16978:16876,LH00995:48:23YTGFLT4:2:2451:19526:14368,LH00995:48:23YTGFLT4:2:2451:7367:28114,LH00995:48:23YTGFLT4:2:2460:10627:26727,LH00995:48:23YTGFLT4:2:2464:23248:22999,LH00995:48:23YTGFLT4:2:2469:25092:15405,LH00995:48:23YTGFLT4:2:2469:40463:18403,LH00995:48:23YTGFLT4:2:2472:24170:13667,LH00995:48:23YTGFLT4:3:1102:2197:7053,LH00995:48:23YTGFLT4:3:1102:31693:6185,LH00995:48:23YTGFLT4:3:1110:19656:20225,LH00995:48:23YTGFLT4:3:1110:19664:20239,LH00995:48:23YTGFLT4:3:1116:20723:22159,LH00995:48:23YTGFLT4:3:1121:40123:24260,LH00995:48:23YTGFLT4:3:1124:32583:12070,LH00995:48:23YTGFLT4:3:1143:11210:9351,LH00995:48:23YTGFLT4:3:1143:11218:9365,LH00995:48:23YTGFLT4:3:1148:24348:19748,LH00995:48:23YTGFLT4:3:1169:4422:12896,LH00995:48:23YTGFLT4:3:1178:2618:28941,LH00995:48:23YTGFLT4:3:1182:9130:23686,LH00995:48:23YTGFLT4:3:1184:37559:2948,LH00995:48:23YTGFLT4:3:1185:24243:25704,LH00995:48:23YTGFLT4:3:1191:46992:23714,LH00995:48:23YTGFLT4:3:1212:49597:13457,LH00995:48:23YTGFLT4:3:1219:47073:13681,LH00995:48:23YTGFLT4:3:1232:7229:7165,LH00995:48:23YTGFLT4:3:1240:24542:5540,LH00995:48:23YTGFLT4:3:1242:18102:19384,LH00995:48:23YTGFLT4:3:1244:47372:13387,LH00995:48:23YTGFLT4:3:1274:30836:2709,LH00995:48:23YTGFLT4:3:1275:8791:21724,LH00995:48:23YTGFLT4:3:1277:35172:9239,LH00995:48:23YTGFLT4:3:1277:35188:9239,LH00995:48:23YTGFLT4:3:1277:42154:26544,LH00995:48:23YTGFLT4:3:1281:31184:2023,LH00995:48:23YTGFLT4:3:1283:20052:29011,LH00995:48:23YTGFLT4:3:1287:7788:11215,LH00995:48:23YTGFLT4:3:1287:7796:11229,LH00995:48:23YTGFLT4:3:1290:11622:1575,LH00995:48:23YTGFLT4:3:1293:18135:29277,LH00995:48:23YTGFLT4:3:1293:18143:29291,LH00995:48:23YTGFLT4:3:1314:7262:7025,LH00995:48:23YTGFLT4:3:1315:12172:1939,LH00995:48:23YTGFLT4:3:1315:12180:1953,LH00995:48:23YTGFLT4:3:1315:18240:21304,LH00995:48:23YTGFLT4:3:1343:20335:12518,LH00995:48:23YTGFLT4:3:1343:20343:12532,LH00995:48:23YTGFLT4:3:1344:40139:25802,LH00995:48:23YTGFLT4:3:1351:7610:20715,LH00995:48:23YTGFLT4:3:1359:22341:12826,LH00995:48:23YTGFLT4:3:1359:22358:12826,LH00995:48:23YTGFLT4:3:1388:28158:13373,LH00995:48:23YTGFLT4:3:1396:14025:28212,LH00995:48:23YTGFLT4:3:1408:32462:21136,LH00995:48:23YTGFLT4:3:1421:8006:2093,LH00995:48:23YTGFLT4:3:1423:17318:9057,LH00995:48:23YTGFLT4:3:1430:47801:11327,LH00995:48:23YTGFLT4:3:1431:21994:15138,LH00995:48:23YTGFLT4:3:1441:47380:27301,LH00995:48:23YTGFLT4:3:1450:18272:23097,LH00995:48:23YTGFLT4:3:1466:31871:10192,LH00995:48:23YTGFLT4:3:1473:26912:29039,LH00995:48:23YTGFLT4:3:1473:26928:29039,LH00995:48:23YTGFLT4:3:1476:34266:16862,LH00995:48:23YTGFLT4:3:1480:27131:26614,LH00995:48:23YTGFLT4:3:2104:47429:5246,LH00995:48:23YTGFLT4:3:2106:23943:18095,LH00995:48:23YTGFLT4:3:2108:27826:20477,LH00995:48:23YTGFLT4:3:2109:12197:21794,LH00995:48:23YTGFLT4:3:2111:6170:14466

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

6037

low

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(1),read_through(2)

TTCCTCTCCAGACGTCGGTCAGAGCAAGGGAAGAGGGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGC

LH00995:48:23YTGFLT4:1:1134:41005:3284,LH00995:48:23YTGFLT4:4:1256:48116:1560,LH00995:48:23YTGFLT4:4:1256:48132:1560

RBM14

RBM4

+/+

chr11:66624324

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5469

6037

low

out-of-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000393979.3

ENST00000396053.9

downstream

upstream

duplicates(3),read_through(4)

GGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG___ACTACGCGTTTGTTCACATGGAGAAGGAAGCAGATGCCAAAGCCGCAATCGCGCAGCTCAACGGCAAAGAAGTGAAGGGCAAGCGCATCAACGTGGAACTCTCCACCAAGG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGtTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAG

GNVSAACTSQELRSLFERRGRVIECDVVKDYAFVHMEKEADAKAAIAQLNGKEVKGKRINVELSTK|gscqdgeavhrkpapggyragdsftlravwegagm*

LH00995:48:23YTGFLT4:1:1434:33498:24443,LH00995:48:23YTGFLT4:1:2221:42575:20407,LH00995:48:23YTGFLT4:4:2166:4592:2065,LH00995:48:23YTGFLT4:4:1436:48383:14298,LH00995:48:23YTGFLT4:4:1436:48391:14284,LH00995:48:23YTGFLT4:4:1436:48391:14312,LH00995:48:23YTGFLT4:4:1436:48407:14312

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1674

6037

low

out-of-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(5),read_through(9)

GCCAACAGCACCCCGCCGCCCTATGAGCGTACCCGCCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAG

ANSTPPPYERTRLSPPRASYDDPYKKAVAMSKr|llsgw*

LH00995:48:23YTGFLT4:2:1116:7391:29277,LH00995:48:23YTGFLT4:1:1247:44047:23490,LH00995:48:23YTGFLT4:1:1328:1275:26979,LH00995:48:23YTGFLT4:1:2436:38133:28184,LH00995:48:23YTGFLT4:2:2463:34808:7740,LH00995:48:23YTGFLT4:3:1387:4066:24050,LH00995:48:23YTGFLT4:3:1387:4074:24036,LH00995:48:23YTGFLT4:3:2126:5263:8469,LH00995:48:23YTGFLT4:3:2149:49953:10739,LH00995:48:23YTGFLT4:3:2288:44759:7460,LH00995:48:23YTGFLT4:4:1223:27527:14634,LH00995:48:23YTGFLT4:4:1316:5805:28352,LH00995:48:23YTGFLT4:4:2233:46482:8118,LH00995:48:23YTGFLT4:4:2275:6857:23728

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000242419.5

ENST00000622527.1

ENST00000306593.1

downstream

upstream

duplicates(15),low_entropy(1)

TCACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATC

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

LH00995:48:23YTGFLT4:1:1258:14308:4517,LH00995:48:23YTGFLT4:1:1297:10449:5876,LH00995:48:23YTGFLT4:1:1322:5603:3816,LH00995:48:23YTGFLT4:1:1428:1526:23266,LH00995:48:23YTGFLT4:1:2111:3039:26334,LH00995:48:23YTGFLT4:1:2168:38732:15517,LH00995:48:23YTGFLT4:2:1104:9996:7586,LH00995:48:23YTGFLT4:2:1234:17172:14802,LH00995:48:23YTGFLT4:2:1330:21063:7474,LH00995:48:23YTGFLT4:2:2278:39096:2836,LH00995:48:23YTGFLT4:2:2454:10498:20925,LH00995:48:23YTGFLT4:3:1277:42461:16820,LH00995:48:23YTGFLT4:3:1341:42016:18852,LH00995:48:23YTGFLT4:3:1341:42024:18838,LH00995:48:23YTGFLT4:3:1341:42032:18852,LH00995:48:23YTGFLT4:3:1341:42041:18838,LH00995:48:23YTGFLT4:3:1344:24542:17170,LH00995:48:23YTGFLT4:3:1359:14551:20827,LH00995:48:23YTGFLT4:3:1486:51223:25858,LH00995:48:23YTGFLT4:3:2184:52048:10108,LH00995:48:23YTGFLT4:3:2185:40665:2948,LH00995:48:23YTGFLT4:3:2241:34023:6409,LH00995:48:23YTGFLT4:3:2476:18313:16834,LH00995:48:23YTGFLT4:4:1274:39484:29179,LH00995:48:23YTGFLT4:4:1312:15433:5960,LH00995:48:23YTGFLT4:4:1402:29954:24947,LH00995:48:23YTGFLT4:4:2125:14462:11593,LH00995:48:23YTGFLT4:4:2230:32405:3410,LH00995:48:23YTGFLT4:4:2307:34169:10024,LH00995:48:23YTGFLT4:4:2432:20934:29585,LH00995:48:23YTGFLT4:5:1394:7957:11817,LH00995:48:23YTGFLT4:1:1115:44330:23308,LH00995:48:23YTGFLT4:1:1253:20392:10711,LH00995:48:23YTGFLT4:1:2173:19235:17366,LH00995:48:23YTGFLT4:1:2343:14615:9309,LH00995:48:23YTGFLT4:2:1136:51967:21458,LH00995:48:23YTGFLT4:2:1464:25052:17885,LH00995:48:23YTGFLT4:2:2254:35027:24821,LH00995:48:23YTGFLT4:3:1190:5223:19776,LH00995:48:23YTGFLT4:3:1288:18879:9015,LH00995:48:23YTGFLT4:3:2112:13410:23840,LH00995:48:23YTGFLT4:4:1185:37818:4994,LH00995:48:23YTGFLT4:4:1351:34080:8497,LH00995:48:23YTGFLT4:4:1471:2165:19328,LH00995:48:23YTGFLT4:4:2223:39379:17759,LH00995:48:23YTGFLT4:5:1112:28344:12294,LH00995:48:23YTGFLT4:5:1230:11881:9814,LH00995:48:23YTGFLT4:5:1290:31556:13317

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000253873.6

ENST00000622527.1

ENST00000398587.7

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000253846.2

ENST00000622527.1

ENST00000398610.2

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000253767.3

ENST00000622527.1

ENST00000398604.3

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000240764.4

ENST00000622527.1

ENST00000252087.3

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000253305.2

ENST00000622527.1

ENST00000520790.1

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000253159.3

ENST00000622527.1

ENST00000252085.4

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000261934.2

ENST00000622527.1

ENST00000573521.1

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000254122.3

ENST00000622527.1

ENST00000398594.4

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

6672

medium

in-frame

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

ENSG00000253910.2

ENSG00000240184.7

ENST00000622527.1

ENST00000308177.5

downstream

upstream

duplicates(15),low_entropy(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

AC079781.4

ASNS

-/-

chr7:97928082

chr7:97872449

exon

5'UTR

deletion/read-through

317

medium

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

ENSG00000284627.1

ENSG00000070669.17

ENST00000641908.1

ENST00000444334.5

upstream

downstream

duplicates(6)

GGCCGGCCCAGGAGGGAGGAGGACGACGTCCCTCCCGAAGAGAAGAGGCTGCGGCTCTTGCTGGAGGGGGGAAGCGCACAGCCCCAGGACTGCGAGGACGGGGAGGACGCGCCGCGGCCGGGCAGGGAGGAGACCGGCACCCAGACAGGTGGCGACGGCAGAGGA|GAGCCAGGTCGGTATAAGCGCCAGCGGCCTCGCCGCCCGTCAAGCTGTCCACATCCCTGGCCTCAGCCCGCCACATCACCCTGACCTGCTTACGCCCAG___ATTTTCTTCAATCACATCT

LH00995:48:23YTGFLT4:1:1492:29550:25704,LH00995:48:23YTGFLT4:1:2413:41992:28562,LH00995:48:23YTGFLT4:1:2413:42000:28576,LH00995:48:23YTGFLT4:2:1409:24890:22929,LH00995:48:23YTGFLT4:2:2413:19631:24723,LH00995:48:23YTGFLT4:2:2448:46797:5442,LH00995:48:23YTGFLT4:3:1103:45738:22831,LH00995:48:23YTGFLT4:3:2451:10684:24190,LH00995:48:23YTGFLT4:3:2488:28142:2023,LH00995:48:23YTGFLT4:4:1417:25772:10500,LH00995:48:23YTGFLT4:5:1132:23620:25886,LH00995:48:23YTGFLT4:5:1243:51821:24092,LH00995:48:23YTGFLT4:1:1469:48626:5470,LH00995:48:23YTGFLT4:1:2226:24040:22887,LH00995:48:23YTGFLT4:1:2277:33166:12966,LH00995:48:23YTGFLT4:1:2285:15149:17128,LH00995:48:23YTGFLT4:1:2285:15166:17128,LH00995:48:23YTGFLT4:2:1114:37688:20883,LH00995:48:23YTGFLT4:2:1230:21233:25451,LH00995:48:23YTGFLT4:2:1230:21249:25451,LH00995:48:23YTGFLT4:2:1321:33635:2289,LH00995:48:23YTGFLT4:2:2185:50050:23378,LH00995:48:23YTGFLT4:2:2248:40916:4335,LH00995:48:23YTGFLT4:3:1156:43197:19636,LH00995:48:23YTGFLT4:3:1242:9640:16918,LH00995:48:23YTGFLT4:3:1242:9648:16932,LH00995:48:23YTGFLT4:3:1347:44249:19917,LH00995:48:23YTGFLT4:3:1443:42210:17955,LH00995:48:23YTGFLT4:3:2179:47331:7908,LH00995:48:23YTGFLT4:3:2179:47340:7922,LH00995:48:23YTGFLT4:4:2140:22058:12028,LH00995:48:23YTGFLT4:4:2224:39840:3368,LH00995:48:23YTGFLT4:4:2283:46344:21136,LH00995:48:23YTGFLT4:5:1209:25933:15769,LH00995:48:23YTGFLT4:1:1265:37543:2387

NSMCE2

LINC01588

+/+

-/-

chr8:125182256

chr14:50052904

CDS/splice-site

exon/splice-site

translocation

4810

medium

out-of-frame

ENSG00000156831.8

ENSG00000214900.11

ENST00000287437.8

ENST00000635379.1

downstream

duplicates(9),low_entropy(2)

CAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT|CATTGTTGGTGCTCTGAGGGTGTCAGCCAGGCCACTCATGCAGACCATTGCGGCAGCACTGAAAATGGAAGAAAGATGGGATTCTGCTGTCTTTTGTTTTGGCTGATGAACAGCACCGAGATGGAGTGGCT

ASSVALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQ|sllvl*

LH00995:48:23YTGFLT4:1:1214:27915:1855,LH00995:48:23YTGFLT4:1:1229:9721:7726,LH00995:48:23YTGFLT4:1:1381:36976:19959,LH00995:48:23YTGFLT4:1:1381:36984:19945,LH00995:48:23YTGFLT4:1:1441:3678:8497,LH00995:48:23YTGFLT4:1:2103:39274:9674,LH00995:48:23YTGFLT4:1:2124:18806:16287,LH00995:48:23YTGFLT4:1:2163:32292:8903,LH00995:48:23YTGFLT4:1:2365:45236:18908,LH00995:48:23YTGFLT4:2:1174:15829:12364,LH00995:48:23YTGFLT4:2:1190:41774:24877,LH00995:48:23YTGFLT4:2:1226:8863:25914,LH00995:48:23YTGFLT4:2:2147:44548:15811,LH00995:48:23YTGFLT4:2:2201:20117:21892,LH00995:48:23YTGFLT4:3:1150:34420:24583,LH00995:48:23YTGFLT4:3:1150:34428:24569,LH00995:48:23YTGFLT4:3:1457:15999:24092,LH00995:48:23YTGFLT4:3:1458:16921:1813,LH00995:48:23YTGFLT4:3:2123:3111:1631,LH00995:48:23YTGFLT4:3:2165:49313:17535,LH00995:48:23YTGFLT4:3:2249:31556:25171,LH00995:48:23YTGFLT4:3:2350:23992:27399,LH00995:48:23YTGFLT4:4:1294:27673:19819,LH00995:48:23YTGFLT4:4:1294:27681:19833,LH00995:48:23YTGFLT4:4:2265:1744:20365,LH00995:48:23YTGFLT4:4:2361:43375:27315,LH00995:48:23YTGFLT4:3:1423:5029:1112,LH00995:48:23YTGFLT4:3:1423:5037:1126,LH00995:48:23YTGFLT4:2:1113:37672:22621,LH00995:48:23YTGFLT4:2:1212:13070:15377,LH00995:48:23YTGFLT4:4:2176:47291:12966,LH00995:48:23YTGFLT4:4:2446:38311:9744,LH00995:48:23YTGFLT4:4:2446:38327:9744,LH00995:48:23YTGFLT4:4:2446:38335:9758

NSMCE2

LINC01588

+/+

-/-

chr8:125151277

chr14:50052904

CDS/splice-site

exon/splice-site

translocation

10972

medium

out-of-frame

ENSG00000156831.8

ENSG00000214900.11

ENST00000287437.8

ENST00000635379.1

downstream

duplicates(1)

GTAATCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCcTATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTcCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|CATTGTTGGTGCTCTGAGGGTGTCAGCCAGG...CTGAAAATGGAAGAAAGATGGGATTCTGCTGTCTTTTGTTTTGGCTGATGAACAGCACCGAGATGGAGTGGCT___CAGCCAGAACAAGCCACCATCTCCCCTGGGCTTTCACAGTAGCCTCCTGACTGGTCTTGTTGCTTCgACACTTACACTTCCT

MPGRSSSNSGSTGFISsSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINH|hcwcsegvsq

LH00995:48:23YTGFLT4:3:1327:8330:16133,LH00995:48:23YTGFLT4:3:1327:8346:16133,LH00995:48:23YTGFLT4:2:1113:37672:22621,LH00995:48:23YTGFLT4:2:1212:13070:15377,LH00995:48:23YTGFLT4:4:2176:47291:12966

PDE11A

-/-

chr2:177629456

chr2:177629458

CDS

duplication/ITD

medium

in-frame

3'5'-cyclic_nucleotide_phosphodiesterase(100%),GAF_domain(100%)|

ENSG00000128655.18

ENST00000286063.11

upstream

downstream

duplicates(5)

GCACTGGTGAAGGTCAACGTGAAACTGAAGCCGATGCTAGATTCAGTAGCTACAAACAGAAGTAAGTGGGAAGAGCTACACCAAAAACGACTGCTGGCCTCAACTGC|ct|CaTCcTCCTCCCCTGCCAGTGTTATGGTAGCCAAGGAAGACAGGAACTAAACCTCCAGGTCAGCTGCAGCTGCAAAATGACTACAGCCTGAAGGGCCATTTTCAGTCCAGCAATGTCATCCTTTTGTTCTTTTAG

ALVKVNVKLKPMLDSVATNRSKWEELHQKRLLASTa|sSSSPASVMVAKEDRN*

LH00995:48:23YTGFLT4:1:1151:42364:22229,LH00995:48:23YTGFLT4:1:1345:48391:19384,LH00995:48:23YTGFLT4:1:1349:14980:28716,LH00995:48:23YTGFLT4:1:1349:14996:28716,LH00995:48:23YTGFLT4:1:2126:5992:14606,LH00995:48:23YTGFLT4:3:1492:22972:22103,LH00995:48:23YTGFLT4:3:2269:1388:11425,LH00995:48:23YTGFLT4:3:2320:30456:28114,LH00995:48:23YTGFLT4:3:2433:18871:1350,LH00995:48:23YTGFLT4:4:1360:1000:15068,LH00995:48:23YTGFLT4:4:1405:13984:9057,LH00995:48:23YTGFLT4:4:2106:1760:12658,LH00995:48:23YTGFLT4:4:2456:30504:5134,LH00995:48:23YTGFLT4:5:1338:47137:19090,LH00995:48:23YTGFLT4:1:1148:38287:23069,LH00995:48:23YTGFLT4:1:2243:27236:18445,LH00995:48:23YTGFLT4:1:2243:27244:18431,LH00995:48:23YTGFLT4:2:1329:31265:26516,LH00995:48:23YTGFLT4:2:1330:15335:9071,LH00995:48:23YTGFLT4:2:2411:14413:29249,LH00995:48:23YTGFLT4:3:1437:8160:12588,LH00995:48:23YTGFLT4:4:1261:34865:6605,LH00995:48:23YTGFLT4:4:1261:34873:6619,LH00995:48:23YTGFLT4:4:1273:28077:3873,LH00995:48:23YTGFLT4:5:1174:48593:26853,LH00995:48:23YTGFLT4:5:1174:48602:26867

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

GCCTTATTCCTACAATCCGTGTGCTGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

LH00995:48:23YTGFLT4:1:1161:13313:13975,LH00995:48:23YTGFLT4:1:1322:20473:13821,LH00995:48:23YTGFLT4:1:1322:20481:13835,LH00995:48:23YTGFLT4:1:1384:7521:6549,LH00995:48:23YTGFLT4:1:2263:36887:27988,LH00995:48:23YTGFLT4:1:2289:40495:3971,LH00995:48:23YTGFLT4:1:2292:38449:4377,LH00995:48:23YTGFLT4:1:2363:20424:27749,LH00995:48:23YTGFLT4:2:1295:31224:17310,LH00995:48:23YTGFLT4:2:1419:38675:6507,LH00995:48:23YTGFLT4:2:2231:34574:19889,LH00995:48:23YTGFLT4:2:2377:34452:27357,LH00995:48:23YTGFLT4:2:2398:20723:28044,LH00995:48:23YTGFLT4:3:1397:20821:20309,LH00995:48:23YTGFLT4:3:2257:14413:14928,LH00995:48:23YTGFLT4:3:2486:12027:2639,LH00995:48:23YTGFLT4:4:1209:12803:5610,LH00995:48:23YTGFLT4:4:2174:15999:21710,LH00995:48:23YTGFLT4:4:2338:27293:19861,LH00995:48:23YTGFLT4:4:2479:24404:16764,LH00995:48:23YTGFLT4:1:1378:29194:10514,LH00995:48:23YTGFLT4:1:1419:22463:25928,LH00995:48:23YTGFLT4:1:2122:32769:12868,LH00995:48:23YTGFLT4:1:2417:46264:20435,LH00995:48:23YTGFLT4:2:1137:12528:22873,LH00995:48:23YTGFLT4:2:2419:33158:16932,LH00995:48:23YTGFLT4:2:2429:25375:19174,LH00995:48:23YTGFLT4:3:1315:8410:6128,LH00995:48:23YTGFLT4:3:1315:8419:6114,LH00995:48:23YTGFLT4:3:2360:7690:7740,LH00995:48:23YTGFLT4:4:2468:10813:5078,LH00995:48:23YTGFLT4:5:1113:32413:15783

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

122

6672

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(11),low_entropy(1)

PYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

NDUFA9

AC092745.5

+/+

chr12:4682300

chr12:8277941

CDS/splice-site

intron

deletion

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000286895.1

ENST00000266544.10

ENST00000669735.1

downstream

upstream

duplicates(5),mismatches(1)

GTCGTAGATGTATCCAAAGGAATTGTTAATGCAGTTAAGGATCCTGATGCCAATGGGAAATCCTTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|ATTTCTACTCATTGCTCATCCACTGAACCCAGAACAAACCAGAAGTGCTTGAAATGAGGACGGGTAGCTCCGTGTACCAATCGGAATTTAAAACTCTATCAATTCCTGCTATAGAAATGAGGCTTCTCCCTGGGACCAGCATTCCACGAAGGCAGCCCTTTTCTAGATGGAGAAAAC

VVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|flliahplnpeqtrsa*

LH00995:48:23YTGFLT4:1:1225:26378:4517,LH00995:48:23YTGFLT4:1:1324:6089:9393,LH00995:48:23YTGFLT4:1:1349:20821:18992,LH00995:48:23YTGFLT4:1:1491:51838:3802,LH00995:48:23YTGFLT4:2:1373:29922:11663,LH00995:48:23YTGFLT4:2:1373:29938:11663,LH00995:48:23YTGFLT4:2:1427:36005:17072,LH00995:48:23YTGFLT4:2:2482:1194:7278,LH00995:48:23YTGFLT4:2:2488:27009:15643,LH00995:48:23YTGFLT4:3:1204:20100:28030,LH00995:48:23YTGFLT4:3:2343:38894:21206,LH00995:48:23YTGFLT4:4:2138:50592:12126,LH00995:48:23YTGFLT4:5:1195:9713:3564,LH00995:48:23YTGFLT4:1:2427:14591:22327,LH00995:48:23YTGFLT4:2:1273:44961:15461,LH00995:48:23YTGFLT4:3:1382:50487:5414,LH00995:48:23YTGFLT4:4:1206:38141:17184,LH00995:48:23YTGFLT4:4:1445:2982:7067,LH00995:48:23YTGFLT4:4:1445:2990:7081,LH00995:48:23YTGFLT4:4:1445:2998:7067,LH00995:48:23YTGFLT4:4:1445:3006:7081,LH00995:48:23YTGFLT4:5:1119:16743:17787,LH00995:48:23YTGFLT4:3:2177:8362:13135

NDUFA9

AC092745.5

+/+

chr12:4682300

chr12:8278055

CDS/splice-site

exon/splice-site

deletion

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000286895.1

ENST00000266544.10

ENST00000669735.1

downstream

upstream

duplicates(8)

TTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|AAATGAGGCTTCTCCCTGGGACCAGCATTCCACGAAGGCAGCCCTTTTCTAGATGGAGAAAACAGAACCTGAAGACACCCGTTTCCCTAAA

FAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|neaspwdqhstkaalf*

LH00995:48:23YTGFLT4:1:1203:5094:6185,LH00995:48:23YTGFLT4:1:2126:38707:6535,LH00995:48:23YTGFLT4:1:2235:22843:24064,LH00995:48:23YTGFLT4:1:2342:37454:21850,LH00995:48:23YTGFLT4:2:2405:9737:5932,LH00995:48:23YTGFLT4:3:1179:17722:7880,LH00995:48:23YTGFLT4:3:2331:45867:2541,LH00995:48:23YTGFLT4:3:2331:45875:2555,LH00995:48:23YTGFLT4:4:1106:16800:15587,LH00995:48:23YTGFLT4:4:1156:31289:18431,LH00995:48:23YTGFLT4:4:1156:31305:18431,LH00995:48:23YTGFLT4:4:1446:44387:10598,LH00995:48:23YTGFLT4:5:1225:15611:13975,LH00995:48:23YTGFLT4:5:1389:21961:26965,LH00995:48:23YTGFLT4:1:1470:7852:19790,LH00995:48:23YTGFLT4:1:1470:7868:19790,LH00995:48:23YTGFLT4:1:2453:7197:10136,LH00995:48:23YTGFLT4:2:2418:19170:27399,LH00995:48:23YTGFLT4:4:1219:14842:19174,LH00995:48:23YTGFLT4:4:1260:25408:9954,LH00995:48:23YTGFLT4:4:2368:15255:25129,LH00995:48:23YTGFLT4:4:2413:40390:14774

NDUFA9

AC092745.5

+/+

chr12:4682300

chr12:8294719

CDS/splice-site

exon/splice-site

deletion

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000286895.1

ENST00000266544.10

ENST00000669735.1

downstream

upstream

TGGAAGACAGTTAAACAACCAGTATAT___GTCGTAGATGTATCCAAAGGAATTGTTAATGCAGTTAAGGATCCTGATGCCAATGGGAAATCCTTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|TTCTACAAGGCCTGGAGCTGATACGAAAAACCTCCCTTCTTTCCCAAATGCTCCCCAGCTTCCCCGTTCACTGAAGGCCCTGCAGTCAGGAACA

WKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|strpgadtknlpsfpnapqlprslkalqsg

LH00995:48:23YTGFLT4:1:1118:46539:12084,LH00995:48:23YTGFLT4:2:1192:2634:15293,LH00995:48:23YTGFLT4:2:2284:27640:2303,LH00995:48:23YTGFLT4:2:2329:44184:25802,LH00995:48:23YTGFLT4:5:1227:39411:14200

NDUFA9

AC092745.5

+/+

chr12:4682300

chr12:8341754

CDS/splice-site

exon/splice-site

deletion

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000286895.1

ENST00000266544.10

ENST00000669735.1

downstream

upstream

duplicates(2)

GTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|TGCCTCCCGCTGAAGAATCGGAGTATATTTCTCCAGCCCCTAATGTTGGGTTTAGTCATGTGTCTAGCTTTGGCCACTGGAATATTAATC

RYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|asr*

LH00995:48:23YTGFLT4:1:1377:6752:28226,LH00995:48:23YTGFLT4:1:2102:6121:26825,LH00995:48:23YTGFLT4:2:1394:31410:9141,LH00995:48:23YTGFLT4:2:2151:48731:29417,LH00995:48:23YTGFLT4:4:2236:32106:1939

NSMCE2

AL365295.1

+/+

chr8:125182256

chr14:53318031

CDS/splice-site

exon/splice-site

translocation

4810

medium

out-of-frame

ENSG00000156831.8

ENSG00000237356.7

ENST00000287437.8

ENST00000655713.1

downstream

upstream

duplicates(4),low_entropy(1)

TGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT|AAAACTACTGGAGGGTGGTTCCAAGATGGCCAAATAGGAACAGCTCCAGTCTACAGCTCCCAGCATGAGTGATGCAGAAGACGAATGATTTCTGCATTTCCAACTCAG___AGAGCTGACTTTAGAG

DKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQ|*

LH00995:48:23YTGFLT4:1:1201:29881:10304,LH00995:48:23YTGFLT4:1:2301:32956:26979,LH00995:48:23YTGFLT4:2:2133:28797:13919,LH00995:48:23YTGFLT4:2:2154:41377:11635,LH00995:48:23YTGFLT4:2:2437:41223:6521,LH00995:48:23YTGFLT4:2:2437:41232:6507,LH00995:48:23YTGFLT4:3:1191:36693:3018,LH00995:48:23YTGFLT4:3:1391:45026:20785,LH00995:48:23YTGFLT4:3:2140:31443:25143,LH00995:48:23YTGFLT4:3:2174:40091:17703,LH00995:48:23YTGFLT4:3:2174:40107:17703,LH00995:48:23YTGFLT4:3:2178:32244:11201,LH00995:48:23YTGFLT4:3:2333:17536:21066,LH00995:48:23YTGFLT4:3:2476:29606:23616,LH00995:48:23YTGFLT4:4:1475:20780:6479,LH00995:48:23YTGFLT4:4:1475:20788:6493,LH00995:48:23YTGFLT4:4:2498:19753:12854,LH00995:48:23YTGFLT4:5:1191:1146:13023,LH00995:48:23YTGFLT4:5:1255:1461:11075,LH00995:48:23YTGFLT4:5:1264:17762:12966,LH00995:48:23YTGFLT4:5:1338:12973:2962,LH00995:48:23YTGFLT4:5:1366:28773:7067

NSMCE2

AL365295.1

+/+

chr8:125182256

chr14:53313716

CDS/splice-site

exon/splice-site

translocation

4810

medium

out-of-frame

ENSG00000156831.8

ENSG00000237356.7

ENST00000287437.8

ENST00000648066.1

downstream

upstream

duplicates(4),mismappers(3)

TTTGGATCTTGTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT|GCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCGTGATCTCGGCTCACCGCAACCTCTG...GAAGCGCAAGGGGTCAGGGAATTCCCTTTCCTAGCCAAGGAAAGGGGTGACAGATGGCACCTGGAAAATCGGGTCACTCCCACCCTAATACTGCGCTTTTCTGATGGTCATAGCAAATGGCACACCAGGAGATTATATCCCGTGCCTGGCT

LDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQ|cgvslllprlecngvisahrnl

LH00995:48:23YTGFLT4:3:1422:33910:5904,LH00995:48:23YTGFLT4:4:1201:20489:9898,LH00995:48:23YTGFLT4:4:1432:25286:6521,LH00995:48:23YTGFLT4:4:1432:25294:6507,LH00995:48:23YTGFLT4:4:1451:7723:19034,LH00995:48:23YTGFLT4:4:2469:8694:23826,LH00995:48:23YTGFLT4:1:2431:4471:21220,LH00995:48:23YTGFLT4:1:2431:4479:21234,LH00995:48:23YTGFLT4:4:2232:36167:15727

NSMCE2

AL365295.1

+/+

chr8:125182256

chr14:53369455

CDS/splice-site

exon/splice-site

translocation

4810

low

out-of-frame

ENSG00000156831.8

ENSG00000237356.7

ENST00000287437.8

ENST00000655713.1

downstream

upstream

GTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT___GTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAAT|AGAGCTGACTTTAGAGGGATCAAGAATAG

SEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQ|*

LH00995:48:23YTGFLT4:1:2226:30043:16021

POM121

+/+

chr7:72925146

chr7:72925138

CDS

duplication/ITD

160

206

medium

in-frame

|POM121_family(100%)

ENSG00000196313.11

ENST00000434423.4

downstream

upstream

duplicates(28),low_entropy(1)

AGTCGCGCGCGCATGACGTAGAGGGCGCGCGATGACGCGACGCGCGGCGCGGTGCACGCTGGGATATTTAAGTCTCCTCCGCGGCGCGGAGCCGCGATGTCTCCGGCGGCTGCGGCGGCTG|CGGCGGCTGGAGCAGGCGAGCGGCGGCGGCCCATAGCGAGTGTCAGGGACGGCCGGGGCCGGGGCTGCGGCGGGCCGGCCAGGGCGGTGCTCCTGGGCCTGTCGCTGGTTGGCtTCTTACTGTACCTCGTGCCGGCTGCGGCTGCACTGGCCTGGCTGACCGTGGGGGCTACCGCGGCCTGGTGGGGACTGAGCCGCGAGCCCCGAGGTTCGCGCCCCTTGTCCTCCTTCGTTCGGAAGGCGCGTCATCGGCGCCCCTTG

MSPAAAAA|aAAGAGERRRPIASVRDGRGRGCGGPARAVLLGLSLVGfLLYLVPAAAALAWLTVGATAAWWGLSREPRGSRPLSSFVRKARHRRP

LH00995:48:23YTGFLT4:1:1395:1251:4013,LH00995:48:23YTGFLT4:1:1395:1251:4013,LH00995:48:23YTGFLT4:1:1395:1259:4027,LH00995:48:23YTGFLT4:1:1395:1259:4027,LH00995:48:23YTGFLT4:1:2135:27826:25325,LH00995:48:23YTGFLT4:1:2135:27826:25325,LH00995:48:23YTGFLT4:2:1314:13815:10332,LH00995:48:23YTGFLT4:2:1314:13815:10332,LH00995:48:23YTGFLT4:2:1408:45495:10837,LH00995:48:23YTGFLT4:2:1408:45495:10837,LH00995:48:23YTGFLT4:2:1408:45511:10837,LH00995:48:23YTGFLT4:2:1408:45511:10837,LH00995:48:23YTGFLT4:2:2181:35107:15349,LH00995:48:23YTGFLT4:2:2181:35107:15349,LH00995:48:23YTGFLT4:2:2493:10530:23448,LH00995:48:23YTGFLT4:2:2493:10530:23448,LH00995:48:23YTGFLT4:3:1431:42874:18011,LH00995:48:23YTGFLT4:3:1431:42874:18011,LH00995:48:23YTGFLT4:3:2263:12237:13345,LH00995:48:23YTGFLT4:3:2263:12237:13345,LH00995:48:23YTGFLT4:3:2263:12245:13359,LH00995:48:23YTGFLT4:3:2263:12245:13359,LH00995:48:23YTGFLT4:3:2477:51029:10697,LH00995:48:23YTGFLT4:3:2477:51029:10697,LH00995:48:23YTGFLT4:4:1178:6639:27525,LH00995:48:23YTGFLT4:4:1209:5530:14480,LH00995:48:23YTGFLT4:4:1209:5530:14480,LH00995:48:23YTGFLT4:5:1160:28724:11187,LH00995:48:23YTGFLT4:5:1160:28724:11187,LH00995:48:23YTGFLT4:5:1160:28749:11173,LH00995:48:23YTGFLT4:5:1160:28749:11173,LH00995:48:23YTGFLT4:1:1372:26128:11565,LH00995:48:23YTGFLT4:1:1372:26128:11565,LH00995:48:23YTGFLT4:1:2347:50074:4419,LH00995:48:23YTGFLT4:1:2347:50074:4419,LH00995:48:23YTGFLT4:2:2151:48399:17016,LH00995:48:23YTGFLT4:3:1263:5992:28590,LH00995:48:23YTGFLT4:3:1263:5992:28590,LH00995:48:23YTGFLT4:3:2159:36442:3032,LH00995:48:23YTGFLT4:3:2159:36442:3032,LH00995:48:23YTGFLT4:4:2421:31378:20491,LH00995:48:23YTGFLT4:4:2421:31378:20491,LH00995:48:23YTGFLT4:4:2466:42469:11902,LH00995:48:23YTGFLT4:4:2466:42469:11902,LH00995:48:23YTGFLT4:5:1370:14340:19118,LH00995:48:23YTGFLT4:5:1370:14340:19118

NDUFA9

ENPP7P5

+/+

-/+

chr12:4682300

chr12:8277941

CDS/splice-site

intron

deletion/5'-5'

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000256589.2

ENST00000266544.10

downstream

upstream

duplicates(1),mismatches(1)

ATGTATCCAAAGGAATTGTTAATGCAGTTAAGGATCCTGATGCCAATGGGAAATCCTTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|ATTTCTACTCATTGCTCATCCACTGAACCCAGAACAAACCAGAAGTGCTTGAAATGAGGACGGGTAGCTCCGTGTACCAATCGGAATTTAAAACTCTA

VSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|flliahplnpeqtrsa*

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000242419.5

ENST00000610583.1

ENST00000306593.1

downstream

upstream

duplicates(11)

TCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCGCTACG

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

LH00995:48:23YTGFLT4:1:1191:5506:14242,LH00995:48:23YTGFLT4:1:1201:49872:22088,LH00995:48:23YTGFLT4:1:1201:49888:22088,LH00995:48:23YTGFLT4:1:1458:33853:18585,LH00995:48:23YTGFLT4:2:1498:25828:17436,LH00995:48:23YTGFLT4:2:1498:25836:17422,LH00995:48:23YTGFLT4:3:1210:7318:6171,LH00995:48:23YTGFLT4:3:2234:11355:5456,LH00995:48:23YTGFLT4:3:2464:46620:2752,LH00995:48:23YTGFLT4:4:1386:46272:24989,LH00995:48:23YTGFLT4:1:1357:20076:9968,LH00995:48:23YTGFLT4:1:2238:3289:9674,LH00995:48:23YTGFLT4:1:2257:25157:8230,LH00995:48:23YTGFLT4:2:1270:12957:5288,LH00995:48:23YTGFLT4:2:1381:2125:8665,LH00995:48:23YTGFLT4:3:1111:4414:11173,LH00995:48:23YTGFLT4:3:1237:40924:24134,LH00995:48:23YTGFLT4:3:1237:40932:24120,LH00995:48:23YTGFLT4:3:1369:34776:11523,LH00995:48:23YTGFLT4:3:1455:45980:9660,LH00995:48:23YTGFLT4:3:2118:39694:14242,LH00995:48:23YTGFLT4:4:1269:40083:14270,LH00995:48:23YTGFLT4:4:1422:43157:16792,LH00995:48:23YTGFLT4:4:1456:20643:9351,LH00995:48:23YTGFLT4:4:2379:1162:16610

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000253873.6

ENST00000610583.1

ENST00000398587.7

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000253846.2

ENST00000610583.1

ENST00000398610.2

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000253767.3

ENST00000610583.1

ENST00000398604.3

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000240764.4

ENST00000610583.1

ENST00000252087.3

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000253305.2

ENST00000610583.1

ENST00000520790.1

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000253159.3

ENST00000610583.1

ENST00000252085.4

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

LUC7L

DECR2(8641),AL023881.1(3115)

-/-

./-

chr16:189229

chr16:421128

CDS

intergenic

duplication

3486

medium

out-of-frame

LUC7_N_terminus(100%)|

ENSG00000007392.17

ENST00000293872.13

upstream

downstream

duplicates(3)

CGGGACCGAAGTGCGAAATACAA___GTTCTCCAGAGAGCGGGCATCCAGAGAGGAGTCCTGGGAGAGCGGGCGGAGCGAGCGAGGGCCCCCGGACTGGAGGCTTGAGAGCTCCAACGGGAAGATGGCTTCACGGAG|AATACACAAAAGAATTTCTCAAAAAACAGTAAACGAACAGCAACCCGATAGAAAAACGAGGAAAGAATATGAATAAGCAGCTCCAGAAGAGGAAATTCAGGTGGCCGGTAAACACATGAAAAAGATGCTCATCTTCACTGGTCACCAGGAAAATGTGTGAGTGTAGCCCTTGACACCAATCAGA

RDRSAKYKFSRERASREESWESGRSERGPPDWRLESSNGKMASRr|ihkrisqktvneqqpdrktrkeye*

LH00995:48:23YTGFLT4:1:2255:33926:28941,LH00995:48:23YTGFLT4:2:1148:40455:24358,LH00995:48:23YTGFLT4:3:2239:41426:15839,LH00995:48:23YTGFLT4:4:1275:31362:26460,LH00995:48:23YTGFLT4:4:1276:24979:24485,LH00995:48:23YTGFLT4:4:2232:15975:1490,LH00995:48:23YTGFLT4:4:2278:50624:11509,LH00995:48:23YTGFLT4:4:2472:19283:5484,LH00995:48:23YTGFLT4:4:2494:19453:18529,LH00995:48:23YTGFLT4:5:1310:7456:10080,LH00995:48:23YTGFLT4:1:2388:31823:26923,LH00995:48:23YTGFLT4:2:2333:20853:20477,LH00995:48:23YTGFLT4:2:2406:19243:15279,LH00995:48:23YTGFLT4:2:2406:19259:15279,LH00995:48:23YTGFLT4:4:1334:44362:13331,LH00995:48:23YTGFLT4:1:2488:43650:17478,LH00995:48:23YTGFLT4:1:2488:43659:17464

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000261934.2

ENST00000610583.1

ENST00000573521.1

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000254122.3

ENST00000610583.1

ENST00000398594.4

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

218

6672

medium

in-frame

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

ENSG00000253731.3

ENSG00000240184.7

ENST00000610583.1

ENST00000308177.5

downstream

upstream

duplicates(11)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

412

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(7)

GCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:48:23YTGFLT4:1:1244:37227:24064,LH00995:48:23YTGFLT4:1:1244:37235:24050,LH00995:48:23YTGFLT4:1:1459:50341:13793,LH00995:48:23YTGFLT4:1:2273:22981:18529,LH00995:48:23YTGFLT4:3:1439:21541:14017,LH00995:48:23YTGFLT4:3:2266:15497:24373,LH00995:48:23YTGFLT4:3:2270:10821:4671,LH00995:48:23YTGFLT4:4:1101:51821:21010,LH00995:48:23YTGFLT4:4:1266:51595:2766,LH00995:48:23YTGFLT4:4:1266:51603:2752,LH00995:48:23YTGFLT4:4:2254:38432:10963,LH00995:48:23YTGFLT4:4:2464:7885:22145,LH00995:48:23YTGFLT4:4:2464:7901:22145,LH00995:48:23YTGFLT4:5:1135:40253:28884,LH00995:48:23YTGFLT4:3:2251:37098:28156,LH00995:48:23YTGFLT4:3:2251:37106:28142,LH00995:48:23YTGFLT4:4:1169:37106:5218,LH00995:48:23YTGFLT4:4:1324:25254:28184,LH00995:48:23YTGFLT4:4:1331:50487:6843,LH00995:48:23YTGFLT4:4:2442:45649:29039

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

412

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

mismatches(1)

CTGGAGCAACAGGGCCAGGAGGTGTGGGAGCGGGAGACACTAGAGTAACCTATGTGCACAGCCTCTCCATATACCATGTGCTGTTGCGCCTGCTAGTAATCGACGACATTAGGCAAGAGAAACAGCGGCTCCTCAAGTCCTGCCCAAAGAC...CCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:48:23YTGFLT4:1:1213:26160:8763,LH00995:48:23YTGFLT4:2:2369:38732:20309,LH00995:48:23YTGFLT4:3:2347:8685:2653,LH00995:48:23YTGFLT4:4:1462:25488:4881,LH00995:48:23YTGFLT4:4:2408:34671:16722,LH00995:48:23YTGFLT4:1:2202:12884:23209

CHIT1

-/-

chr1:203217827

chr1:203217850

CDS

duplication/ITD

medium

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

ENSG00000133063.16

ENST00000479483.1

ENST00000367229.6

upstream

downstream

duplicates(13)

CCTCCCT?CACAGGTCAGCTATCTGAAGCAGAAGGGACTGGGCGGGGCCATG|gtct|AGGGACTGGGCGGGGCCATGGTCTGGGCACTGGACTTAGATGACTTTGCCGGCTTCTCCTGCAACCAGGGCCGATACCCCCTCATCCAGACGCTACGGCAGGAACTGAGTAAGTAAG...___GTC

LH00995:48:23YTGFLT4:1:2142:36879:14382,LH00995:48:23YTGFLT4:2:1330:7302:8609,LH00995:48:23YTGFLT4:3:1196:19639:24849,LH00995:48:23YTGFLT4:2:1246:32640:7095,LH00995:48:23YTGFLT4:2:1246:32640:7095,LH00995:48:23YTGFLT4:2:1440:2812:13639,LH00995:48:23YTGFLT4:2:1440:2812:13639,LH00995:48:23YTGFLT4:2:1440:2828:13639,LH00995:48:23YTGFLT4:2:1440:2828:13639,LH00995:48:23YTGFLT4:2:2262:25270:25606,LH00995:48:23YTGFLT4:2:2262:25270:25606,LH00995:48:23YTGFLT4:2:2429:40245:20659,LH00995:48:23YTGFLT4:2:2429:40245:20659,LH00995:48:23YTGFLT4:3:1311:1712:8959,LH00995:48:23YTGFLT4:3:1311:1712:8959,LH00995:48:23YTGFLT4:3:1411:1396:7151,LH00995:48:23YTGFLT4:3:1411:1396:7151,LH00995:48:23YTGFLT4:4:1159:44953:14998,LH00995:48:23YTGFLT4:4:1159:44953:14998,LH00995:48:23YTGFLT4:4:1317:19033:24330,LH00995:48:23YTGFLT4:4:1317:19033:24330,LH00995:48:23YTGFLT4:4:2226:49758:29515,LH00995:48:23YTGFLT4:4:2226:49758:29515,LH00995:48:23YTGFLT4:5:1220:4309:11719,LH00995:48:23YTGFLT4:5:1220:4309:11719,LH00995:48:23YTGFLT4:1:2142:36879:14382

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

255

1277

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(2),mismappers(3)

CTATGAAGGAGGAGATTTTGAAAAAGCTGCTGAATTATACAAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGCCTTGTTTTCAATTGGATTCCCCG

YEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQKALFSIGFP

LH00995:48:23YTGFLT4:1:2366:10126:14312,LH00995:48:23YTGFLT4:2:1379:17131:27932,LH00995:48:23YTGFLT4:2:1412:50721:5092,LH00995:48:23YTGFLT4:3:2220:10328:25283,LH00995:48:23YTGFLT4:3:2279:29970:7684,LH00995:48:23YTGFLT4:3:2357:3233:7586,LH00995:48:23YTGFLT4:1:1137:34541:27567,LH00995:48:23YTGFLT4:1:1301:1089:15026,LH00995:48:23YTGFLT4:2:1418:2869:1883,LH00995:48:23YTGFLT4:3:1297:15125:20561,LH00995:48:23YTGFLT4:3:1385:2950:24779,LH00995:48:23YTGFLT4:4:1142:15732:23153,LH00995:48:23YTGFLT4:4:1420:17633:7726,LH00995:48:23YTGFLT4:4:2271:3346:7894,LH00995:48:23YTGFLT4:4:2330:49136:29137,LH00995:48:23YTGFLT4:4:2343:25537:11775,LH00995:48:23YTGFLT4:5:1341:23288:25031

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

TGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAA?CC

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

LH00995:48:23YTGFLT4:1:1271:48343:11986,LH00995:48:23YTGFLT4:1:1271:48359:11986,LH00995:48:23YTGFLT4:1:1380:17827:29081,LH00995:48:23YTGFLT4:1:1446:21994:4909,LH00995:48:23YTGFLT4:2:2198:19890:6030,LH00995:48:23YTGFLT4:2:2306:46385:3971,LH00995:48:23YTGFLT4:3:1122:11226:26390,LH00995:48:23YTGFLT4:3:1265:34565:3816,LH00995:48:23YTGFLT4:3:1265:34582:3816,LH00995:48:23YTGFLT4:3:2230:45463:23588,LH00995:48:23YTGFLT4:3:2295:7990:17675,LH00995:48:23YTGFLT4:3:2340:17868:17885,LH00995:48:23YTGFLT4:3:2359:21508:1378,LH00995:48:23YTGFLT4:3:2359:21524:1378,LH00995:48:23YTGFLT4:3:2437:20456:3508,LH00995:48:23YTGFLT4:4:1323:36337:3354,LH00995:48:23YTGFLT4:4:2427:28587:19440,LH00995:48:23YTGFLT4:4:2448:22325:28464,LH00995:48:23YTGFLT4:5:1198:19704:14284,LH00995:48:23YTGFLT4:1:1266:28660:3312,LH00995:48:23YTGFLT4:1:2267:26977:8917,LH00995:48:23YTGFLT4:1:2423:49111:14690,LH00995:48:23YTGFLT4:1:2423:49119:14676,LH00995:48:23YTGFLT4:3:1128:7626:23153,LH00995:48:23YTGFLT4:3:1128:8702:16694,LH00995:48:23YTGFLT4:3:2196:30763:9730,LH00995:48:23YTGFLT4:5:1168:32203:17605

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(10),low_entropy(1),mismappers(4)

DGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

SLC45A3

ELK4

-/-

chr1:205661861

chr1:205623891

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1989

1443

medium

in-frame

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

ENSG00000158715.6

ENSG00000158711.14

ENST00000367145.4

ENST00000616704.4

upstream

downstream

duplicates(10),low_entropy(1)

ACCGGCTGGTGCAGCGATTCGGCACTCGAGCAGTCTATTTGGCCAGTGTGGCAGCTTTCCCTGTGGCTGCCGGTGCCACATGCCTGTCCCACAGTGTGGCCGTGGTGACAGCTTCAGCCGCCCTCACCGGGTTCACCTTCTCAGCCCTGCAGATCCTGCCCTACACACTGGCCTCCCTCTACCACCGGGAGAAGCAG|CTCATTGCTATGGACAGTGCTATCACCCTGTGGCAGTTCCTTCTTCAGCTCCTGCAGAAGCCTCAGAACAAGCACATGATCTGTTGGACCTCTAATGATGGGCAGTTTAAGCTTTTGCAGGCAGAAGAGGTGGCTCGTCTCTGGGGGATTCGCAAGAACAAGCCTAACATGA

RLVQRFGTRAVYLASVAAFPVAAGATCLSHSVAVVTASAALTGFTFSALQILPYTLASLYHREKQ|liaMDSAITLWQFLLQLLQKPQNKHMICWTSNDGQFKLLQAEEVARLWGIRKNKPNM

LH00995:48:23YTGFLT4:1:1107:51918:10444,LH00995:48:23YTGFLT4:2:1276:46846:21108,LH00995:48:23YTGFLT4:2:1324:5166:11663,LH00995:48:23YTGFLT4:2:2252:42817:13205,LH00995:48:23YTGFLT4:2:2497:38675:4629,LH00995:48:23YTGFLT4:3:1252:32680:1252,LH00995:48:23YTGFLT4:3:1252:32689:1266,LH00995:48:23YTGFLT4:3:2167:13111:15811,LH00995:48:23YTGFLT4:4:1478:42065:3466,LH00995:48:23YTGFLT4:4:1478:42073:3452,LH00995:48:23YTGFLT4:1:1233:8831:8623,LH00995:48:23YTGFLT4:1:2130:35989:14438,LH00995:48:23YTGFLT4:1:2168:19939:1154,LH00995:48:23YTGFLT4:1:2494:17026:3396,LH00995:48:23YTGFLT4:3:1207:17835:6535,LH00995:48:23YTGFLT4:3:1382:43788:19426,LH00995:48:23YTGFLT4:3:1382:43804:19426,LH00995:48:23YTGFLT4:3:1382:43820:19426,LH00995:48:23YTGFLT4:4:2431:11493:21360,LH00995:48:23YTGFLT4:5:1286:28813:18796,LH00995:48:23YTGFLT4:5:1286:28822:18782,LH00995:48:23YTGFLT4:2:1390:48513:1406,LH00995:48:23YTGFLT4:2:1390:48521:1420

TUBB4A

-/-

chr19:6495204

chr19:6495287

CDS

duplication/ITD

143

medium

in-frame

Tubulin/FtsZ_family__GTPase_domain(100%),Tubulin_C-terminal_domain(100%)|

ENSG00000104833.12

ENST00000264071.7

upstream

downstream

duplicates(23)

GGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAATGACCTGGTgTCcGAGTACCAGCAGTACCAGGAtGCCACaGCCGAGGA|CGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAATGACCTGGTgTCcGAGTACCAGCAGTACCAGGAtGCCACaGCCGAGGA

YTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEd|EMEFTEAESNMNDLVSEYQQYQDATAE

LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:1:1119:5174:15349,LH00995:48:23YTGFLT4:3:2203:32810:1280,LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:2:2206:12439:26558,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:3:1379:2400:26685,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:1:2140:26330:14242,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:3:1278:31604:15335,LH00995:48:23YTGFLT4:1:1119:5174:15349,LH00995:48:23YTGFLT4:1:1119:5174:15349,LH00995:48:23YTGFLT4:1:1119:5174:15349,LH00995:48:23YTGFLT4:1:1119:5174:15349,LH00995:48:23YTGFLT4:3:2203:32810:1280,LH00995:48:23YTGFLT4:3:2203:32810:1280,LH00995:48:23YTGFLT4:3:2203:32810:1280,LH00995:48:23YTGFLT4:3:2203:32810:1280,LH00995:48:23YTGFLT4:3:2203:32810:1280

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

ACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCGCTACG

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

LH00995:48:23YTGFLT4:1:2258:17318:17128,LH00995:48:23YTGFLT4:1:2424:36677:12098,LH00995:48:23YTGFLT4:2:1315:37834:11579,LH00995:48:23YTGFLT4:3:1202:44775:2583,LH00995:48:23YTGFLT4:3:1479:13006:23756,LH00995:48:23YTGFLT4:3:1479:13022:23756,LH00995:48:23YTGFLT4:3:1479:13038:23756,LH00995:48:23YTGFLT4:4:1417:39379:16694,LH00995:48:23YTGFLT4:4:2259:22188:15839,LH00995:48:23YTGFLT4:1:1101:28312:22691,LH00995:48:23YTGFLT4:1:1101:28320:22705,LH00995:48:23YTGFLT4:1:1237:8402:24751,LH00995:48:23YTGFLT4:1:1237:8410:24765,LH00995:48:23YTGFLT4:2:1287:48399:1715,LH00995:48:23YTGFLT4:3:1306:31346:8076,LH00995:48:23YTGFLT4:3:1331:35334:19552,LH00995:48:23YTGFLT4:3:1498:36564:22999,LH00995:48:23YTGFLT4:4:1368:13321:9505,LH00995:48:23YTGFLT4:4:2125:13313:20701,LH00995:48:23YTGFLT4:4:2368:14729:12532,LH00995:48:23YTGFLT4:5:1214:2505:18459

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

139

6672

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(10)

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARY

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

242

248

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(2),mismatches(4)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGA

LH00995:48:23YTGFLT4:2:2104:18944:13331,LH00995:48:23YTGFLT4:2:2335:1049:18291,LH00995:48:23YTGFLT4:3:1232:40212:25199,LH00995:48:23YTGFLT4:4:2484:47873:10276,LH00995:48:23YTGFLT4:1:1330:42251:26012,LH00995:48:23YTGFLT4:1:2430:41579:11369,LH00995:48:23YTGFLT4:3:1174:51061:12098,LH00995:48:23YTGFLT4:3:1283:45147:10402,LH00995:48:23YTGFLT4:3:1377:44977:5512,LH00995:48:23YTGFLT4:3:1460:5231:13681,LH00995:48:23YTGFLT4:3:1480:4349:20617,LH00995:48:23YTGFLT4:3:1480:4365:20617,LH00995:48:23YTGFLT4:4:1159:47655:7936,LH00995:48:23YTGFLT4:4:2454:28789:4321,LH00995:48:23YTGFLT4:4:2476:21969:6493,LH00995:48:23YTGFLT4:5:1402:10619:27890

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

CGCACTTTGTGGGCGCGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCGCTACGGACCC

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

LH00995:48:23YTGFLT4:1:2419:48100:24989,LH00995:48:23YTGFLT4:1:2435:30448:23560,LH00995:48:23YTGFLT4:2:1251:33667:18179,LH00995:48:23YTGFLT4:2:2191:49144:11888,LH00995:48:23YTGFLT4:3:1266:7504:17086,LH00995:48:23YTGFLT4:4:1281:43845:27511,LH00995:48:23YTGFLT4:4:1389:40317:27007,LH00995:48:23YTGFLT4:4:1389:40325:27021,LH00995:48:23YTGFLT4:1:1374:8305:12308,LH00995:48:23YTGFLT4:1:1403:34339:21360,LH00995:48:23YTGFLT4:1:2269:42332:19678,LH00995:48:23YTGFLT4:1:2280:23612:4069,LH00995:48:23YTGFLT4:2:1218:39209:1462,LH00995:48:23YTGFLT4:4:1175:48545:24274,LH00995:48:23YTGFLT4:5:1158:17245:26671,LH00995:48:23YTGFLT4:5:1358:30698:6283,LH00995:48:23YTGFLT4:5:1373:18288:28562,LH00995:48:23YTGFLT4:5:1373:18296:28576,LH00995:48:23YTGFLT4:5:1373:18313:28576

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

TGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGAC

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:1218:7383:1967,LH00995:48:23YTGFLT4:1:2384:43634:8903,LH00995:48:23YTGFLT4:1:2474:13588:23420,LH00995:48:23YTGFLT4:1:2482:47704:8244,LH00995:48:23YTGFLT4:2:1443:25820:27343,LH00995:48:23YTGFLT4:2:1482:8265:15068,LH00995:48:23YTGFLT4:2:2444:34517:15951,LH00995:48:23YTGFLT4:3:1278:29760:27890,LH00995:48:23YTGFLT4:3:1444:12674:19342,LH00995:48:23YTGFLT4:3:2332:10886:8819,LH00995:48:23YTGFLT4:4:1154:14316:16862,LH00995:48:23YTGFLT4:4:1375:32430:17380,LH00995:48:23YTGFLT4:4:2147:51482:15825,LH00995:48:23YTGFLT4:4:2398:13135:25101,LH00995:48:23YTGFLT4:2:1310:38109:6647,LH00995:48:23YTGFLT4:2:1498:5069:3844,LH00995:48:23YTGFLT4:3:1317:37300:15251,LH00995:48:23YTGFLT4:3:2164:38732:25606,LH00995:48:23YTGFLT4:3:2265:10441:12420,LH00995:48:23YTGFLT4:4:2264:30464:9940

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6672

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(5),mismappers(4)

HFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6672

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(8),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

FTO

CASC19

+/+

-/+

chr16:53934109

chr8:127132020

CDS/splice-site

intron

translocation/5'-5'

3022

medium

out-of-frame

FTO_C-terminal_domain(67%),FTO_catalytic_domain(100%)|

ENSG00000140718.21

ENSG00000254166.3

ENST00000637969.1

downstream

upstream

duplicates(1),mismappers(1)

GCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|GGACATGGATGAAGCTGGAAACCATCATCTTCAGCAAACTTACACAGGAACAGAAAACAAAACACCACATGTTCTCACTCATAAGTGGGAGCTGAAGAATGAGAACACATGGATACAGGGAGGAGAACATCACACACTGGGGCCTGTCGG

AQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|dmdeagnhhlqqtytgtenktphvlthkwelknentwiqggehhtlgpv

LH00995:48:23YTGFLT4:1:2272:2731:14424,LH00995:48:23YTGFLT4:1:2355:9737:28520,LH00995:48:23YTGFLT4:2:1260:2909:14256,LH00995:48:23YTGFLT4:4:2211:39339:5050,LH00995:48:23YTGFLT4:1:2116:23094:26124,LH00995:48:23YTGFLT4:1:2487:2440:19188,LH00995:48:23YTGFLT4:4:2278:35285:25802,LH00995:48:23YTGFLT4:4:2356:36458:2611,LH00995:48:23YTGFLT4:4:2404:27414:13513,LH00995:48:23YTGFLT4:5:1183:7043:13849,LH00995:48:23YTGFLT4:5:1357:16436:1701

FTO

PCAT1

+/+

chr16:53934109

chr8:127132020

CDS/splice-site

intron

translocation

3022

medium

out-of-frame

FTO_C-terminal_domain(67%),FTO_catalytic_domain(100%)|

ENSG00000140718.21

ENSG00000253438.4

ENST00000637969.1

downstream

upstream

duplicates(1),mismappers(1)

AQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|dmdeagnhhlqqtytgtenktphvlthkwelknentwiqggehhtlgpv

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

977

medium

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(8)

CACGCTGCTGCTGTACACCGCGCTGCGGTGCTCTGCGCTGCCCACCGAGGGCGCGTGCGCTCCGGGCAAGCCCACGCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGC

TLLLYTALRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

LH00995:48:23YTGFLT4:2:1349:2893:23616,LH00995:48:23YTGFLT4:2:1355:9219:28576,LH00995:48:23YTGFLT4:3:1316:7666:13107,LH00995:48:23YTGFLT4:4:2488:5094:7894,LH00995:48:23YTGFLT4:1:1280:24534:20043,LH00995:48:23YTGFLT4:1:2342:3929:26502,LH00995:48:23YTGFLT4:1:2347:45333:16890,LH00995:48:23YTGFLT4:2:2182:47445:15307,LH00995:48:23YTGFLT4:3:2223:40706:3915,LH00995:48:23YTGFLT4:3:2244:40819:7446,LH00995:48:23YTGFLT4:3:2341:10376:26432,LH00995:48:23YTGFLT4:4:1148:10166:17324,LH00995:48:23YTGFLT4:5:1138:15449:8230,LH00995:48:23YTGFLT4:5:1138:15465:8230,LH00995:48:23YTGFLT4:5:1352:20020:23350,LH00995:48:23YTGFLT4:5:1352:20028:23336

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

977

medium

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(8)

TLLLYTALRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

977

medium

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(8)

TLLLYTALRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

ETV6

RERGL

+/+

-/+

chr12:11650160

chr12:18162727

CDS/splice-site

intron

deletion/5'-5'

10576

medium

out-of-frame

ENSG00000139083.11

ENSG00000111404.7

ENST00000396373.9

downstream

upstream

duplicates(4)

CCGGGAGAGATGCTGGAAGAAACTTCTTAAATGACCGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTGAGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAG|TCTAGAACCTGGAGAATGGGTCTTCTGGAAATGCCATCACAGGAAGGCTGCTCTTGAACCTTGTTGGAAGGGGCCATACCAAGTTCTTCTCACAACCCACACTGCAGTGAAGCTTCAGGACCTTAAACGTTGGATCCACATCTCACACCTCAAAAGCGCCCCTTCAGACTCCTGGAACTGTACGCCTGCTGGAGATTTTAAGGTAAAGCTGACCAGGGAAATCTCTCCATACAAGCAGACAGAATCCAAGTCATGAGCTTCTTTCTCAAGATCACAGATCAAAAC

MSETPAQCSIK|srtwrmgllempsqegcs*

LH00995:48:23YTGFLT4:1:1351:12957:19720,LH00995:48:23YTGFLT4:1:1477:40172:11677,LH00995:48:23YTGFLT4:2:1378:15020:26657,LH00995:48:23YTGFLT4:2:2104:16557:23294,LH00995:48:23YTGFLT4:3:1176:7367:11523,LH00995:48:23YTGFLT4:3:1387:7181:5372,LH00995:48:23YTGFLT4:4:1214:21298:20295,LH00995:48:23YTGFLT4:4:1214:21306:20309,LH00995:48:23YTGFLT4:5:1146:47404:6016,LH00995:48:23YTGFLT4:2:2181:13224:8973,LH00995:48:23YTGFLT4:2:2181:13232:8959

MYLK

-/-

chr3:123698384

chr3:123700176

intron

CDS

duplication

2303

medium

Immunoglobulin_I-set_domain(72%),Unstructured_linker_between_I-set_domains_2_and_3_on_MYLCK(100%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(33%),Protein_kinase_domain(100%)

ENSG00000065534.19

ENST00000360304.8

upstream

downstream

GGAGCAGACGCtACAACCTGTCCTGCCGCCCCTGTGGGGCTCTCCCACTTGGAAAGTCCTTGGTAAAACTGATTGGAAACCCTGACTGGGAACATTTCCCAGGTCACCCTACGGTGATCTCTCCAGGCAGGATGCAGGGTGGCATCCACCATCC|CCAGCCTTCAAGCAGAAGCTGCAAGATGTTCATGTGGCAGAGGGCAAGAAGCTGCTGCTCCAGTGCCAGGTGTCTTCTGACCCCCCAGCCACCATCATCTGGACGCTGAAtGGAAAGACCCTCAAGACCACCAAGTTCATCATCCTCTCCCAGGAAGGTAAATGAGCATGGGGGTTGGGGAAGAAGGG

LH00995:48:23YTGFLT4:3:1285:19097:8020,LH00995:48:23YTGFLT4:3:1424:44953:3228,LH00995:48:23YTGFLT4:1:2322:21888:25325,LH00995:48:23YTGFLT4:2:2130:2173:15811,LH00995:48:23YTGFLT4:3:1196:36321:10865,LH00995:48:23YTGFLT4:4:1216:50988:1518

PPFIBP1

KRAS

+/+

-/-

chr12:27524365

chr12:25245395

5'UTR/splice-site

inversion

786

8462

medium

|Ras_family(100%)

ENSG00000110841.14

ENSG00000133703.13

ENST00000537927.5

ENST00000256078.10

downstream

duplicates(1)

GTGTAGTGCAGGCAGGGTGGGGAAAGGACGGGGAAGGACTCGTGTGCTGCGAGCTGGCGGCCGGGCCGGAGTGCTGGGGCTTTGAACTCCGAGAGGAGGTGGACCAGAACTTTTGGAACTAGTGCCGGCGGCTCTCCACCCCCCAG|GCCTGCTGAAAATGACTGAATATAAACTTGTGGTAGTTGGAGCTGaTGGCGTAGGCAAGAGTGCCTTGACGATACAGCTAATTCAGAATCATTTTGTGGACGAATATGATCCAACAATAGAG___GATTCCTACAGGAAGCAAGTAGTAATTGATGGAGAAACCTGTCTCTTGGATATTCTCGACACAGCAGGTCAAGAGGAGTACAGTGCAATGAGGGACCAGTACATGAGGACTGGGGAGGGCTTTCTTTGTGTATTTGCCAT

LH00995:48:23YTGFLT4:3:1396:7043:5778,LH00995:48:23YTGFLT4:3:1421:47323:16666,LH00995:48:23YTGFLT4:3:1421:47331:16680,LH00995:48:23YTGFLT4:3:2366:31071:18025,LH00995:48:23YTGFLT4:3:2435:36628:13695,LH00995:48:23YTGFLT4:4:1186:14154:13779,LH00995:48:23YTGFLT4:4:1394:40503:3901

AC073264.3

TCAF1

+/+

-/-

chr7:143621020

chr7:143863796

exon/splice-site

CDS/splice-site

inversion

545

936

medium

|N-terminal_domain_of_M60-like_peptidases(100%),Peptidase_M60__enhancin_and_enhancin-like(100%)

ENSG00000283537.2

ENSG00000198420.10

ENST00000642873.1

ENST00000479870.6

downstream

mismatches(2)

CCCCGCGCGCCACTGCAGAGCCTGTCCGTCAGTCCCTAGGTATCCGCACTGCTCAGGG|TTGTGAAGATGACCTCTCCGACGACAGAGAAGAGCTTCTGCATGGGATTTCAGAGCTGGACATCAGCAACTCGGATTGTTTCCCATCCCAGCTGCTAGTGCATGGGGCTTTAGCCTTTCCTCTAGGGTTAGATTCCT

LH00995:48:23YTGFLT4:1:1273:10757:9379,LH00995:48:23YTGFLT4:2:1147:45091:23280,LH00995:48:23YTGFLT4:2:1345:15069:2695,LH00995:48:23YTGFLT4:2:1418:12318:18333,LH00995:48:23YTGFLT4:3:1190:26637:6899,LH00995:48:23YTGFLT4:3:1210:49055:24288,LH00995:48:23YTGFLT4:4:1449:13564:13541

AC073264.3

TCAF1

+/+

-/-

chr7:143624398

chr7:143863796

exon/splice-site

CDS/splice-site

inversion

528

936

medium

|N-terminal_domain_of_M60-like_peptidases(100%),Peptidase_M60__enhancin_and_enhancin-like(100%)

ENSG00000283537.2

ENSG00000198420.10

ENST00000642828.1

ENST00000479870.6

downstream

duplicates(3),mismatches(2)

TATCAATGCCTACAATGACACCTTGACTGCAACGCTGATCCAGTTTGTGAAACATGGAGGGGGCTTGTTAATCGGGGGCCAGGCCTGGTACTGGGCCAGCCAGCACGGCCCTGACAAGGTGCTCTCCAGGTTCCCTGGGAACAAGGTGACAAGTGTAGCCGGAGTGTACTTCACTGACACCTATGGGGACAGAGACCGGTTCAAGGTCTCTAAGAAGGTGCCCAAGATCCCACTCCATGTCAG|TTGTGAAGATGACCTCTCCGACGACAGAGAAGAGCTTCTGCATGGGATTTCAGAGCTGGACATCAGCAACTCGGATTGTTTCCCATCCCAGCTGCTAGTGCATGGGGC

LH00995:48:23YTGFLT4:2:1115:43270:1490,LH00995:48:23YTGFLT4:3:2355:36766:10935,LH00995:48:23YTGFLT4:3:2382:15424:12981,LH00995:48:23YTGFLT4:3:2382:15433:12995,LH00995:48:23YTGFLT4:3:2382:15441:12981,LH00995:48:23YTGFLT4:4:1439:11994:18081,LH00995:48:23YTGFLT4:1:2118:48634:15545,LH00995:48:23YTGFLT4:3:2332:4171:16666,LH00995:48:23YTGFLT4:4:1287:26532:28324

AC073264.3

TCAF1

+/+

-/-

chr7:143621020

chr7:143876622

exon/splice-site

5'UTR/splice-site

inversion

545

793

low

|N-terminal_domain_of_M60-like_peptidases(100%),Peptidase_M60__enhancin_and_enhancin-like(100%)

ENSG00000283537.2

ENSG00000198420.10

ENST00000642873.1

ENST00000479870.6

downstream

mismatches(1)

TCCGCACTGCTCAGGG|AAACCAATAGAGCCATGGCGACTCCCTCTGCTGCCTTCGAGGCCCTTATGAATGGTGTGACAAGCTGGGATGTACCCGAAGATGCTGTTCCATGTGAACTGCTTCTTATTGGAGAGGCTTCATTTCCTGTGATGGTGAATGACATGGGCCAGGTCCTCATTGCTGCCTCC

LH00995:48:23YTGFLT4:4:1176:29501:23518

C4orf3

KLHL2

-/+

+/+

chr4:119301190

chr4:165219934

intron

CDS/splice-site

deletion/3'-3'

2134

medium

|BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%)

ENSG00000164096.13

ENSG00000109466.14

ENST00000226725.11

downstream

upstream

duplicates(5),mismappers(3),multimappers(2)

CAGCACGTGAGCATTTTGCAGGTACTTCAAGGGAGTGGGTTTAAGAATAACCTGGCCGCGCCCCgCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACCTGAG|g|TGCACAAAGCAGGGTCATCAGAAGCCTCTCGATTCAAAAGATGATAATACCGAAAAACACTGCCCAGTGACAGTGAATCCTTGGCATATGAAGAAAGCTTTCAAAGTCATGAACGAATTAAGAAG___TCAAAATTTGCTGTGCGATGTCACAATTGTGGCAGAAGACATGGAAA...___GTGAGATGAGTGAGAGCCGAGCAAAG

LH00995:48:23YTGFLT4:1:1137:37656:8132,LH00995:48:23YTGFLT4:1:2297:50770:9043,LH00995:48:23YTGFLT4:2:2247:25998:6241,LH00995:48:23YTGFLT4:3:1256:6736:21220,LH00995:48:23YTGFLT4:3:1256:6744:21206,LH00995:48:23YTGFLT4:3:2224:36410:2780,LH00995:48:23YTGFLT4:3:2258:9114:24471,LH00995:48:23YTGFLT4:3:2315:36677:11257,LH00995:48:23YTGFLT4:4:1197:15756:2766,LH00995:48:23YTGFLT4:4:1261:40285:29165,LH00995:48:23YTGFLT4:4:1261:40301:29165,LH00995:48:23YTGFLT4:4:1261:40309:29179,LH00995:48:23YTGFLT4:4:1261:40317:29165,LH00995:48:23YTGFLT4:5:1204:22738:19370

NDUFA9

AC092745.2

+/+

chr12:4682300

chr12:8368982

CDS/splice-site

exon/splice-site

deletion

5271

medium

out-of-frame

NAD_dependent_epimerase/dehydratase_family(100%)|

ENSG00000139180.11

ENSG00000256552.2

ENST00000266544.10

ENST00000537764.1

downstream

upstream

duplicates(2)

CCCTTGGTTCCTTGGGCTGGAAGACAGTTAAACAACCAGTATAT___GTCGTAGATGTATCCAAAGGAATTGTTAATGCAGTTAAGGATCCTGATGCCAATGGGAAATCCTTTGCTTTCGTTGG___TCCCAGTCGGTACCTCCTTTTCCACCTGGTGAAGTACATCTTTGCTGTGGCTCACAGATTGTTCCTCCCATTCCCCTTGCCGCTTTTTGCCTATCG|GATCACCACGATGAATGACACGGTAACTATCTGGACCAGGAAGTTCATGACCAATCGACC

LGSLGWKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYr|ittmndtvtiwtrkfmtnr

LH00995:48:23YTGFLT4:1:2252:21330:25311,LH00995:48:23YTGFLT4:1:2252:21338:25325,LH00995:48:23YTGFLT4:3:2354:36588:24555,LH00995:48:23YTGFLT4:3:2354:36596:24569,LH00995:48:23YTGFLT4:4:1301:37065:20141,LH00995:48:23YTGFLT4:4:2458:6873:9632

RMND5A

ANAPC1

+/+

-/-

chr2:86741069

chr2:111822600

CDS/splice-site

inversion

1217

1154

medium

out-of-frame

|Anaphase-promoting_complex_sub_unit_1_C-terminal_domain_(100%)

ENSG00000153561.13

ENSG00000153107.13

ENST00000283632.5

ENST00000341068.8

downstream

duplicates(2)

CGAGATCCTGCAGAGCCACG___GCCAAGATGCTGAATTATCAGGGACACTTTCACTTGTTTTGACACAGTGCTGTAAAAGAATAAAGGATACTGTTCAAAAATTGGCCTCCGACCACAAAGACATCCACAGCAGTGTTTCTCGGGTTGGAAAAGCCATTGATAAG|GATTCACTTTAAGAGATTTGGAAACTCTTCCCTTTGGAATTGCTCTTCCCATCAGAGATGCAATTTATCACTGTCGTGAaCAGCCTGCCTCAGACTGGCCAGAAGCcGTCTGTCTCTTGATTG...AAAGGGAAGTCTGTGAGTATCAACATAGAAAGTTCAGAGTTCCAATTTTAGCCTTAAATAAAATCATAAAGTAGAAATGTTCTTCATTTTCCTTTAAGGCTTTTTCTAAGTATATATATTAGCTTGTCTTTTATATTATATGCCAGACGGG

EILQSHGQDAELSGTLSLVLTQCCKRIKDTVQKLASDHKDIHSSVSRVGKAIDK|dsl*

LH00995:48:23YTGFLT4:1:1345:24518:4433,LH00995:48:23YTGFLT4:3:1209:46490:12644,LH00995:48:23YTGFLT4:3:1395:15230:29515,LH00995:48:23YTGFLT4:3:2235:45422:7768,LH00995:48:23YTGFLT4:3:2392:12407:28688,LH00995:48:23YTGFLT4:3:2392:12423:28688

MGAT5

AC092623.1(657),MGAT5(86729)

+/+

./+

chr2:134270550

chr2:134033254

CDS/splice-site

intergenic

duplication

924

medium

out-of-frame

Domain_of_unknown_function_(DUF4525)(99%)|

ENSG00000152127.9

ENST00000409645.5

downstream

upstream

GGGCCATACGCTGGAGTCATGACAGCTTATG___ATCTGAAGAAAACCCTTGCTGTGTTATTAGATAACATTTTGCAGCGCATTGGCAAGTTGGAGTCGAAGGTGGACAATCTTGTTGTCAATGGCACCGGAACAAACTCAACCAACTCCACTACAGCTGTTCCCAGCTTGGTTGCACTTGAGAAAATTAATGTGGCAG|TGGGAAATTCCTTTCAACTCTAAAGTCAAGATTTAATAACATATGAAACTGCTGCCAACCCAGGATTTTGGACCTGATTCACCAATCTTCTGGGACACATTTTAAAATCCTTCTACCTAGAAGGTTTTCTCTGCAAG___ATTGTGCATGAGTGAGTGAGTGCCAGACTGGTTTAGCAGTCATCTTACAGAGCAGcTTCAGAGAGGTCTCCAC

GPYAGVMTAYDLKKTLAVLLDNILQRIGKLESKVDNLVVNGTGTNSTNSTTAVPSLVALEKINVA|vgnsfql*

LH00995:48:23YTGFLT4:2:1363:31127:18011,LH00995:48:23YTGFLT4:3:2219:20400:13583,LH00995:48:23YTGFLT4:4:1460:6954:2429,LH00995:48:23YTGFLT4:1:2424:45503:24555

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

883

129

medium

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(1),mismatches(1)

ACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTaCAGCAAGCTGATAATTTTC

LH00995:48:23YTGFLT4:3:2380:1218:27637,LH00995:48:23YTGFLT4:5:1296:2116:10500,LH00995:48:23YTGFLT4:5:1306:48707:25283,LH00995:48:23YTGFLT4:2:1154:23879:27119,LH00995:48:23YTGFLT4:2:1314:51886:14732,LH00995:48:23YTGFLT4:4:2132:13426:2261

PMS2P8

CCDC146

+/+

chr7:73044560

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

418

129

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(3),multimappers(2)

CCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAGGTATGCAATTTAC

LH00995:48:23YTGFLT4:3:2178:30634:24695,LH00995:48:23YTGFLT4:3:2178:30634:24695,LH00995:48:23YTGFLT4:4:2216:48836:8384,LH00995:48:23YTGFLT4:4:2216:48836:8384,LH00995:48:23YTGFLT4:3:1347:21096:9435

MEX3A

HNRNPD

-/+

-/-

chr1:156082052

chr4:82355401

5'UTR

CDS/splice-site

translocation/3'-3'

8274

medium

ENSG00000254726.3

ENSG00000138668.19

ENST00000313899.12

downstream

duplicates(1),mismatches(1)

GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAGGT...___GTGGTGAAGCAGTATTTTCCAATTTGAAGATTCATTTGAAGGTGGCTCCTGCCACCTGCTAATAGCAGTTCAAACTAAATTTTTTGTATCAAGTCCC

LH00995:48:23YTGFLT4:1:1405:32648:12966,LH00995:48:23YTGFLT4:2:1482:36224:24877,LH00995:48:23YTGFLT4:2:2301:23134:20197,LH00995:48:23YTGFLT4:2:2301:23150:20197,LH00995:48:23YTGFLT4:3:1234:33667:25942,LH00995:48:23YTGFLT4:4:2139:25634:13653

GNG2

DDHD1

+/+

-/+

chr14:51877657

chr14:53055693

CDS/splice-site

CDS

deletion/5'-5'

1823

820

medium

ENSG00000186469.8

ENSG00000100523.16

ENST00000556766.5

downstream

upstream

CTCGCCTGCACAGATCAGCTCCGGAGAGGGGAAAACCACGCTCCTCGGACCAAGCCTCGGGAGCTAAG___CCAGATCTGCCAGTGAGCCTCAGGCTTTAGGAACTGAAGAG|ATTCTCCATAGTGTCGGCGGGACAAAACTGGTGAGGTCACAGGGCTTGGTATGGTTGAAATGCCTTCATTCTCTGAAACTGAGGTAGGTTCTTTAGCTGGGTTGAGAAAGCTTGGCTTCATATGTTCATAAGGTAAAGGATTTGAAGTATTGTACCAGTGGATCTGGACAGGTGAAATGTTGCTGTAGTGTTTCAGTATTAATGGTTCTAATCTATAAGCCTTGATTTAAAA

LH00995:48:23YTGFLT4:5:1317:27204:23378,LH00995:48:23YTGFLT4:2:2182:34541:21822,LH00995:48:23YTGFLT4:4:1158:43157:5722

TLK2

FAM157A

+/+

chr17:62560126

chr3:198180755

CDS/splice-site

exon/splice-site

translocation

1067

444

medium

out-of-frame

ENSG00000146872.18

ENSG00000236438.7

ENST00000582809.5

ENST00000634862.1

downstream

upstream

duplicates(1),mismatches(3),multimappers(4)

AACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAGAATTCTACAGTAAGTCCTACTcAGTCAAG

QQKMLEKYKEqLNRCVTMSKKLLIEK|mmiiphllrdkdqrattatgprtrqcwgtenegvqlwpsqssggdetqlplslwarlmpgasvdrghapglpklekaarlrsegqnstvsptqs

LH00995:48:23YTGFLT4:1:2272:45325:23658,LH00995:48:23YTGFLT4:2:1182:29825:19146,LH00995:48:23YTGFLT4:2:1182:29833:19160,LH00995:48:23YTGFLT4:2:2104:18944:13331,LH00995:48:23YTGFLT4:2:2172:12803:13177,LH00995:48:23YTGFLT4:2:2335:1049:18291,LH00995:48:23YTGFLT4:3:1232:40212:25199,LH00995:48:23YTGFLT4:4:1269:39970:9253,LH00995:48:23YTGFLT4:4:2125:25052:26432,LH00995:48:23YTGFLT4:4:2484:47873:10276,LH00995:48:23YTGFLT4:2:2330:27309:5932

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

medium

in-frame

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

ENSG00000250120.8

ENSG00000248383.5

ENST00000562220.2

ENST00000253807.3

downstream

upstream

duplicates(7)

CGGTGAAGCCCACGCTGGTGTGCTCTAGCGCGGTGGGGAGCTGGTCTTACTCGCAGCAGAGGCGGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAG

VKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

LH00995:48:23YTGFLT4:1:1177:17487:25578,LH00995:48:23YTGFLT4:1:1361:45147:26264,LH00995:48:23YTGFLT4:1:1421:11978:17324,LH00995:48:23YTGFLT4:1:2210:39605:5960,LH00995:48:23YTGFLT4:1:2392:50762:9085,LH00995:48:23YTGFLT4:1:2392:50770:9071,LH00995:48:23YTGFLT4:1:2392:50778:9057,LH00995:48:23YTGFLT4:1:2392:50778:9085,LH00995:48:23YTGFLT4:3:1341:44799:6577,LH00995:48:23YTGFLT4:3:1341:44807:6563

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

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(7)

CACGCTGCTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCC

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:48:23YTGFLT4:1:2202:4649:26713,LH00995:48:23YTGFLT4:1:2217:18216:28772,LH00995:48:23YTGFLT4:2:1391:50462:6128,LH00995:48:23YTGFLT4:2:2432:28822:28422,LH00995:48:23YTGFLT4:2:2432:28830:28408,LH00995:48:23YTGFLT4:2:2432:28838:28394,LH00995:48:23YTGFLT4:4:1258:26200:1911,LH00995:48:23YTGFLT4:4:2371:37235:8525,LH00995:48:23YTGFLT4:4:2371:37251:8525,LH00995:48:23YTGFLT4:2:1282:34525:15517

TMEM242

ARID1B

-/-

+/+

chr6:157318782

chr6:156829227

CDS/splice-site

inversion

1351

3926

medium

out-of-frame

Protein_of_unknown_function_(DUF1358)(83%)|ARID/BRIGHT_DNA_binding_domain(100%),SWI/SNF-like_complex_subunit_BAF250/Osa_(100%)

ENSG00000215712.11

ENSG00000049618.24

ENST00000400788.9

ENST00000637910.1

upstream

duplicates(2)

GGCCACGGCTGCATTACCGGAAAGCGGGTCTTCCCTTGCCTTGCGAGCTCTGGGCTGGGGCTCCCTGTATGCATGGTGTGGGGTTGGTGTGATTAGCTTCGCAGTCTGGAAAGCTTTAGGAGTTCACAGT|GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAGGTTTGTGCTGGTCCC

ATAALPESGSSLALRALGWGSLYAWCGVGVISFAVWKALGVHS|gspmdpmvmkrpqlygmgsnphsqpqqsspypggsygppgpqrypigiqgrtpgamagmqypqqqvcag

LH00995:48:23YTGFLT4:4:2328:35043:26222,LH00995:48:23YTGFLT4:2:2368:16306:3242,LH00995:48:23YTGFLT4:3:1463:42032:16918,LH00995:48:23YTGFLT4:3:2408:32438:16806,LH00995:48:23YTGFLT4:3:2408:32446:16792

TMEM242

ARID1B

-/-

+/+

chr6:157318782

chr6:156901376

CDS/splice-site

inversion

1351

3857

low

out-of-frame

Protein_of_unknown_function_(DUF1358)(83%)|ARID/BRIGHT_DNA_binding_domain(100%),SWI/SNF-like_complex_subunit_BAF250/Osa_(100%)

ENSG00000215712.11

ENSG00000049618.24

ENST00000400788.9

ENST00000636205.1

upstream

duplicates(2)

GGCCACGGCTGCATTACCGGAAAGCGGGTCTTCCCTTGCCTTGCGAGCTCTGGGCTGGGGCTCCCTGTATGCATGGTGTGGGGTTGGTGTGATTAGCTTCGCAGTCTGGAAAGCTTTAGGAGTTCACAGT|ATGCCACCTCAGTATGGACAG...CTGCCAGCAGGGCCAACAGCCATATTACAGCCAGtAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAGGTGAGCACAGTGCACTGCCCCGCAGGGCCCTGTTTTCTC

ATAALPESGSSLALRALGWGSLYAWCGVGVISFAVWKALGVHS|mppqyg

LH00995:48:23YTGFLT4:3:2180:8200:7390,LH00995:48:23YTGFLT4:4:1310:20643:5260,LH00995:48:23YTGFLT4:4:1310:20651:5246

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

medium

in-frame

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

ENSG00000250120.8

ENSG00000239389.8

ENST00000562220.2

ENST00000289272.3

downstream

upstream

duplicates(7)

VKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

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(7)

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

AL132719.1(94840),C14orf177(101975)

ATP5F1A

./-

-/-

chr14:98609638

chr18:46089900

intergenic

CDS/splice-site

translocation

8543

medium

|ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%)

ENSG00000152234.16

ENST00000282050.6

upstream

downstream

GGGAGAGAGAGAGAGAGAGGACAGGA|GCCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCGTAGGCGAGTTGGTCTGAAAGCC

LH00995:48:23YTGFLT4:1:2116:32122:8945,LH00995:48:23YTGFLT4:1:2473:46749:11832,LH00995:48:23YTGFLT4:3:2329:32292:16554

SDCCAG8

AKT3

+/+

-/-

chr1:243256240

chr1:243843282

CDS/splice-site

5'UTR/splice-site

inversion

1700

886

medium

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000673466.1

downstream

duplicates(2)

GAGAAAGCTGGACATTTCCCCACGTAACTCCCAGCTCTGGGCCTAGAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG___GAGAATATAT

MAKSPENSTLEEILGQYQRSLR|g*

LH00995:48:23YTGFLT4:3:1185:11849:10654,LH00995:48:23YTGFLT4:2:1494:2747:15629,LH00995:48:23YTGFLT4:2:2282:13936:7824,LH00995:48:23YTGFLT4:2:2282:13944:7838,LH00995:48:23YTGFLT4:3:1320:26742:26082

SDCCAG8

AKT3

+/+

-/-

chr1:243286397

chr1:243695716

CDS/splice-site

inversion

775

4260

low

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(25%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000336199.9

downstream

ACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGA

EGLQQQLKSQRQEETLREQTLLDAS|eni*

LH00995:48:23YTGFLT4:1:1472:51376:1294

AKT3

SDCCAG8

-/-

+/+

chr1:243613671

chr1:243330540

CDS/splice-site

inversion

3272

460

low

in-frame

PH_domain(100%),Protein_kinase_domain(32%)|Centrosomal_colon_cancer_autoantigen_protein_family(49%)

ENSG00000117020.19

ENSG00000054282.16

ENST00000336199.9

ENST00000366541.8

upstream

CTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG|GCTTTAATCCAGTGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAtCTTGCATCTCAGCAAGAGAAgAGGGC

ESRVLKNTRHPFLTSLKYSFQTKDRLCFVMEYVNGGE|ALIQCDQLRKELERQAERLEKdLASQQEKR

LH00995:48:23YTGFLT4:4:2122:48415:24779

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

medium

in-frame

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

ENSG00000250120.8

ENSG00000243232.6

ENST00000562220.2

ENST00000289269.7

downstream

upstream

duplicates(7)

VKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

977

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(7)

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

POU6F2

POU6F2-AS2

+/+

-/+

chr7:39086031

chr7:38986246

CDS/splice-site

intron

duplication/5'-5'

157

medium

out-of-frame

ENSG00000106536.21

ENSG00000233854.2

ENST00000403058.6

downstream

upstream

duplicates(2)

CAAGATGCTGAAAGAATGTTCTTATAATGATCCAAGAGGAAGTGGCAAATGAGTGCTCTTCTTCAG___GATCCAATGATAGCTGGACAAGTCAGTAAGCCCTTGCTGTCAGTGCGGAGTGAAATGAATGCGGAGTTGAGAGGTGAGGACAAGGCTGCTACTTCAGACAGCGAGCTGAATGAGCCCCTGCTTGCGCCTGTGGAATCAAATGACAGCGAGGACACTCCCAGCAAGCTCTTCG|ATGAGGTCTTGCCATGTTGCTGAGGCTGGCTGTGAACTCCTGGGCTCAAGAGACGCTCCCACCTCAGCCTCCTGAGTAGTACTTTGCAGCTGTTAAACATCAAGTTTGTG___GATATGTCTCTGCTCGTTCTCTTTAA

MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLF|devlpcc*

LH00995:48:23YTGFLT4:4:2228:19696:22145,LH00995:48:23YTGFLT4:1:1446:34371:13457,LH00995:48:23YTGFLT4:1:1446:34387:13457,LH00995:48:23YTGFLT4:2:1413:48391:25970,LH00995:48:23YTGFLT4:2:1413:48399:25956

POU6F2

+/+

chr7:39086031

chr7:38986246

CDS/splice-site

intron

duplication

157

medium

out-of-frame

|Homeodomain(100%),Pou_domain_-_N-terminal_to_homeobox_domain(100%)

ENSG00000106536.21

ENST00000403058.6

downstream

upstream

duplicates(2)

MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLF|devlpcc*

LH00995:48:23YTGFLT4:4:2228:19696:22145,LH00995:48:23YTGFLT4:1:1446:34371:13457,LH00995:48:23YTGFLT4:1:1446:34387:13457,LH00995:48:23YTGFLT4:2:1413:48391:25970,LH00995:48:23YTGFLT4:2:1413:48399:25956

AATK

ZMAT2

-/-

+/+

chr17:81128135

chr5:140700819

intron

CDS/splice-site

translocation

954

medium

Protein_kinase_domain(4%)|Zinc-finger_double-stranded_RNA-binding(100%)

ENSG00000181409.14

ENSG00000146007.11

ENST00000274712.8

upstream

GAGAGAGAGAGAGAGAGGGCAGCGGG|ACAAAAAACTTGGACTTTCGCCGAAAGTGGGACAAAGATGAATATGAGAAACTCGCCGAGAAGAGGCTCACGGAAGAG

LH00995:48:23YTGFLT4:1:1351:47833:13989,LH00995:48:23YTGFLT4:3:1217:5045:8931,LH00995:48:23YTGFLT4:3:2443:2982:5778

CLTB

BCL2

-/-

chr5:176410257

chr18:63128759

CDS/splice-site

translocation

3756

1160

medium

in-frame

Clathrin_light_chain(34%)|

ENSG00000175416.16

ENSG00000171791.14

ENST00000310418.9

ENST00000398117.1

upstream

downstream

duplicates(5)

GGCGGCGGAGGAGGACCCGGCGGCCGCCTTCCTGGCCCAGCAGGAGAGCGAGATTGCAGGCATAGAGAACGACGAGGGCTTCGGGGCACCTGCCGGCAGCCATGCGGCCCCCGCGCAGCCGGGCCCCACGAGTGGGG___CTGGTTCTGAGGACATGGGGACCACAGTCAATGGAGATGTGTTTCAG|GATGCCTTTGTGGAACTGTACGGCCCCAGCATGCGGCCTCTGTTTGATTTCTCCTGGCTGTCTCTGAAGACTCTGCTCAGTTTGGCCCTGGTGGGAGCTTGCATCACCCTGGGTGCCTATCTGGGCCACAAGTGAAGTCAACATGCCTGCCCCAAACAAATATGCAAAAGGTTCACTAAAGCAGTAGAAATAATATGCATTGTCAGTGATGTACCATGAAACAAAGCTGCAGGCTGTTTAAGAAAA

AAEEDPAAAFLAQQESEIAGIENDEGFGAPAGSHAAPAQPGPTSGAGSEDMGTTVNGDVFQ|DAFVELYGPSMRPLFDFSWLSLKTLLSLALVGACITLGAYLGHK*

LH00995:48:23YTGFLT4:3:2136:12633:21934,LH00995:48:23YTGFLT4:3:1324:36475:21948,LH00995:48:23YTGFLT4:3:1324:36483:21962,LH00995:48:23YTGFLT4:3:1449:51029:8090,LH00995:48:23YTGFLT4:3:1449:51045:8090,LH00995:48:23YTGFLT4:3:2119:1971:26138,LH00995:48:23YTGFLT4:4:1498:47566:5652,LH00995:48:23YTGFLT4:4:2479:39484:14830

GSK3B

RANBP1

-/-

+/+

chr3:119967777

chr22:20126952

intron

CDS/splice-site

translocation

6695

medium

Protein_kinase_domain(13%)|

ENSG00000082701.17

ENSG00000099901.17

ENST00000430524.6

upstream

duplicates(2)

GGGAGAGAGAGAGAGAGAAAAGAAAG|CAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGGATGCTGAGGAGA

LH00995:48:23YTGFLT4:2:1153:47000:8034,LH00995:48:23YTGFLT4:4:1429:7747:12770,LH00995:48:23YTGFLT4:4:1429:7755:12784,LH00995:48:23YTGFLT4:4:2184:11865:4657,LH00995:48:23YTGFLT4:5:1390:11274:12014

SCFD2

RANBP1

-/+

+/+

chr4:53007361

chr22:20126952

intron

CDS/splice-site

translocation/3'-3'

6695

medium

ENSG00000184178.16

ENSG00000099901.17

ENST00000430524.6

downstream

upstream

GGAGAGAGAGAGAGAGAGAAAAGAAAG|CAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGG

LH00995:48:23YTGFLT4:2:1372:13070:18852,LH00995:48:23YTGFLT4:4:2273:41151:16512

AC008825.1

RANBP1

-/+

+/+

chr5:28764767

chr22:20126952

intron

CDS/splice-site

translocation/3'-3'

6695

medium

ENSG00000250453.2

ENSG00000099901.17

ENST00000430524.6

downstream

upstream

duplicates(4),mismatches(2)

GGGGGAGAGAGAGAGAGAAAAGAAAG|CAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGG

LH00995:48:23YTGFLT4:1:1319:21330:15951,LH00995:48:23YTGFLT4:3:1351:49621:19216,LH00995:48:23YTGFLT4:3:1353:26670:11916,LH00995:48:23YTGFLT4:3:2343:48602:9632,LH00995:48:23YTGFLT4:3:2351:46781:18361,LH00995:48:23YTGFLT4:4:1146:6784:13093,LH00995:48:23YTGFLT4:4:1318:3160:16652,LH00995:48:23YTGFLT4:4:2377:37324:23812,LH00995:48:23YTGFLT4:4:2440:48585:22775

STAT3(13124),CAVIN1(785)

RANBP1

./+

+/+

chr17:42401664

chr22:20126955

intergenic

CDS/splice-site

translocation

6695

medium

ENSG00000099901.17

ENST00000402752.5

downstream

upstream

GGGGGAGAGAGAGAGAGAAAAGAAAG|GATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAG

LH00995:48:23YTGFLT4:2:1321:39428:17759,LH00995:48:23YTGFLT4:4:1151:14041:9155

SP140L

SP140

+/+

chr2:230400242

chr2:230310743

CDS/splice-site

duplication

421

566

medium

in-frame

HSR_domain(100%),PHD-finger(75%),SAND_domain(100%)|Bromodomain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

GCCACATCCCACCTGTGGAAAGTGAGAA|GACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGTCCTGGAGAGGCAGATGTGTCCTGAGGAACAGTTG___AAATGTGAG

HIPPVESEk|TPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLkc

LH00995:48:23YTGFLT4:2:2377:19623:7249,LH00995:48:23YTGFLT4:4:1487:40900:3662,LH00995:48:23YTGFLT4:5:1212:46660:25465

MAML2

IRAG2

-/-

+/+

chr11:96091892

chr12:25079244

CDS/splice-site

translocation

2220

575

medium

in-frame

MamL-1_domain(100%)|MRVI1_protein(92%)

ENSG00000184384.14

ENSG00000118308.15

ENST00000524717.6

ENST00000636465.1

upstream

duplicates(1)

CTGCCCAATCTCTACCAAGCCAGCCTTTGCTAAGGTCACCTTTGCCACTTCAGCAAAAGCTCCTACTTCAGCAAATGCAGAATCAGCCCATTGCAGGAATGGGATACCAAGTCTCCCAACAACAGAGACAG|GAGAATGGTGTTGAACGCGTGTGTCCTGAGAGCCTGCTGCAGTCCAG___GGAATATTCCTCACTACCATTACCCAGACAC

AQSLPSQPLLRSPLPLQQKLLLQQMQNQPIAGMGYQVSQQQRQ|ENGVERVCPESLLQSREYSSLPLPR

LH00995:48:23YTGFLT4:1:1244:19429:7193,LH00995:48:23YTGFLT4:3:1131:6525:11411,LH00995:48:23YTGFLT4:3:1410:41159:2990,LH00995:48:23YTGFLT4:1:1193:20780:28926

VAPB

GNAS

+/+

chr20:58389517

chr20:58895612

CDS/splice-site

deletion

1965

50958

medium

in-frame

MSP_(Major_sperm_protein)_domain(10%)|G-protein_alpha_subunit(86%)

ENSG00000124164.16

ENSG00000087460.28

ENST00000475243.6

ENST00000667293.1

downstream

upstream

duplicates(1)

CCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAG|GTGCTGGAGAATCTGGTAAAAGCACCATTGTGAAGCAGATGAGGATCCTGCATGTTAATGGGTTTAATGGAGA

MAKVEQVLSLEPQHELKFR|gAGESGKSTIVKQMRILHVNGFNG

LH00995:48:23YTGFLT4:1:2271:5894:2499,LH00995:48:23YTGFLT4:1:2429:50462:27007,LH00995:48:23YTGFLT4:3:1294:21597:25045,LH00995:48:23YTGFLT4:4:2298:47267:9898

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

469

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(13)

GGCTGCCCTCACGTCCTAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGCAGTTATGACTCGCTGCCACAGTCCGT

GCPHVLGYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQEGSYDSLPQS

LH00995:48:23YTGFLT4:1:1108:25173:9435,LH00995:48:23YTGFLT4:1:1258:23021:12126,LH00995:48:23YTGFLT4:1:1287:26427:26797,LH00995:48:23YTGFLT4:1:1308:34654:21738,LH00995:48:23YTGFLT4:1:1375:38271:7796,LH00995:48:23YTGFLT4:1:1411:12852:29095,LH00995:48:23YTGFLT4:1:1411:12860:29109,LH00995:48:23YTGFLT4:1:1440:40269:24429,LH00995:48:23YTGFLT4:1:2123:10101:23462,LH00995:48:23YTGFLT4:1:2141:14680:21220,LH00995:48:23YTGFLT4:1:2365:32535:11341,LH00995:48:23YTGFLT4:1:2418:46830:19650,LH00995:48:23YTGFLT4:2:1105:30553:18109,LH00995:48:23YTGFLT4:2:1182:22964:22649,LH00995:48:23YTGFLT4:2:1205:39096:10935,LH00995:48:23YTGFLT4:2:1211:39217:23392,LH00995:48:23YTGFLT4:2:1302:26540:17633,LH00995:48:23YTGFLT4:2:1335:24429:18235,LH00995:48:23YTGFLT4:2:1481:28975:6044,LH00995:48:23YTGFLT4:2:2175:48383:12560,LH00995:48:23YTGFLT4:2:2223:1097:2569,LH00995:48:23YTGFLT4:2:2286:20084:17128,LH00995:48:23YTGFLT4:2:2311:6445:4601,LH00995:48:23YTGFLT4:2:2338:50794:13793,LH00995:48:23YTGFLT4:3:1237:50551:2836,LH00995:48:23YTGFLT4:3:1326:38594:15727,LH00995:48:23YTGFLT4:3:1407:31451:18011,LH00995:48:23YTGFLT4:3:1471:29493:2149,LH00995:48:23YTGFLT4:3:1493:24380:11509,LH00995:48:23YTGFLT4:3:2216:32478:18754,LH00995:48:23YTGFLT4:3:2268:11161:27932,LH00995:48:23YTGFLT4:3:2326:5183:7796,LH00995:48:23YTGFLT4:4:1169:27932:20295,LH00995:48:23YTGFLT4:4:1345:10700:15979,LH00995:48:23YTGFLT4:4:1432:29040:13751,LH00995:48:23YTGFLT4:4:2189:12609:12028,LH00995:48:23YTGFLT4:4:2247:28603:21906,LH00995:48:23YTGFLT4:4:2353:36847:8553,LH00995:48:23YTGFLT4:4:2362:19518:20071,LH00995:48:23YTGFLT4:4:2454:40843:19594,LH00995:48:23YTGFLT4:5:1141:5692:6577,LH00995:48:23YTGFLT4:5:1152:46175:4559,LH00995:48:23YTGFLT4:5:1174:49265:9912,LH00995:48:23YTGFLT4:5:1196:8807:15054,LH00995:48:23YTGFLT4:5:1303:1356:21150,LH00995:48:23YTGFLT4:5:1303:1372:21150,LH00995:48:23YTGFLT4:5:1349:21929:8665,LH00995:48:23YTGFLT4:5:1349:21937:8651,LH00995:48:23YTGFLT4:5:1383:7423:15489,LH00995:48:23YTGFLT4:3:1285:13831:6128,LH00995:48:23YTGFLT4:4:2193:12431:7936,LH00995:48:23YTGFLT4:5:1175:25408:10290

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

5286

11101

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(13),mismatches(3)

GCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCC

NPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslsl

LH00995:48:23YTGFLT4:1:1108:12650:7698,LH00995:48:23YTGFLT4:1:1155:43384:13653,LH00995:48:23YTGFLT4:1:1206:50729:17941,LH00995:48:23YTGFLT4:1:1263:20602:2107,LH00995:48:23YTGFLT4:1:1270:31799:14886,LH00995:48:23YTGFLT4:1:1270:31815:14886,LH00995:48:23YTGFLT4:1:1318:28069:20897,LH00995:48:23YTGFLT4:1:1436:46328:24078,LH00995:48:23YTGFLT4:1:1495:22633:10753,LH00995:48:23YTGFLT4:1:2316:52080:22551,LH00995:48:23YTGFLT4:1:2351:43311:22859,LH00995:48:23YTGFLT4:1:2402:31208:29473,LH00995:48:23YTGFLT4:1:2404:29436:20435,LH00995:48:23YTGFLT4:1:2434:5166:7600,LH00995:48:23YTGFLT4:2:1131:27309:11705,LH00995:48:23YTGFLT4:2:1135:20206:24905,LH00995:48:23YTGFLT4:2:1152:25877:26965,LH00995:48:23YTGFLT4:2:1197:36183:19734,LH00995:48:23YTGFLT4:2:1212:49297:28604,LH00995:48:23YTGFLT4:2:1212:49313:28604,LH00995:48:23YTGFLT4:2:1218:51927:11944,LH00995:48:23YTGFLT4:2:1233:13167:2205,LH00995:48:23YTGFLT4:2:1243:23620:28184,LH00995:48:23YTGFLT4:2:1275:16395:28926,LH00995:48:23YTGFLT4:2:1438:29291:9646,LH00995:48:23YTGFLT4:2:1469:17075:7572,LH00995:48:23YTGFLT4:2:2122:3079:19903,LH00995:48:23YTGFLT4:2:2330:3031:3256,LH00995:48:23YTGFLT4:3:1137:44573:17282,LH00995:48:23YTGFLT4:3:1198:36062:2205,LH00995:48:23YTGFLT4:3:1368:15522:3256,LH00995:48:23YTGFLT4:3:1371:34679:27525,LH00995:48:23YTGFLT4:3:1391:47356:17787,LH00995:48:23YTGFLT4:3:2127:42405:12434,LH00995:48:23YTGFLT4:3:2213:11638:17801,LH00995:48:23YTGFLT4:3:2279:12455:16161,LH00995:48:23YTGFLT4:3:2314:2416:10626,LH00995:48:23YTGFLT4:3:2342:6404:1308,LH00995:48:23YTGFLT4:3:2363:40164:4321,LH00995:48:23YTGFLT4:3:2436:39411:9856,LH00995:48:23YTGFLT4:4:1358:34088:2962,LH00995:48:23YTGFLT4:4:2121:27640:23041,LH00995:48:23YTGFLT4:4:2168:29938:10430,LH00995:48:23YTGFLT4:4:2228:12310:16582,LH00995:48:23YTGFLT4:4:2228:15125:8230,LH00995:48:23YTGFLT4:4:2312:47340:18095,LH00995:48:23YTGFLT4:4:2385:18927:17366

DDHD1

-/-

-/+

chr14:53051844

chr14:53043138

CDS/splice-site

3'UTR

inversion/5'-5'

384

low

out-of-frame

DDHD_domain(83%)|

ENSG00000100523.16

ENST00000673822.2

upstream

duplicates(11)

GATTTGGACGTTCATCTACAACACAGTCATCTGAAACATCAAAAGACTCAATGGAAGATGAGAAGAAGCCAGTTGCCTCACCTTCTGCTACCACCGTAGGGACACAGACCCTTCCACATAGCAGTTCTGGCTTCCTCGATTCTGCAT___ATTTCAGACTTCAAGAATCGTTCTTTAATCTCCCACAACTTCTTTTTCCGGAAAATGTAATGCAGAATAAAGATAATGCCCTCG|GTGATGCAAAGCTGGAATATGGTGTGTTAAATTTTCTGCAGACTAGGATGCTTCAGCTCCCAATGAGAAAACAGAGAAAAAAGAGACTAAGGATGAATGTTTACATGTCTGAGGCCTTTAGC

FGRSSTTQSSETSKDSMEDEKKPVASPSATTVGTQTLPHSSSGFLDSAYFRLQESFFNLPQLLFPENVMQNKDNAL|gdakleygvlnflqtrmlqlpmrkqrkkrlrmnvymseaf

LH00995:48:23YTGFLT4:3:1471:28482:11523,LH00995:48:23YTGFLT4:4:1352:13232:20225,LH00995:48:23YTGFLT4:4:1352:13240:20239,LH00995:48:23YTGFLT4:1:1120:51975:24274,LH00995:48:23YTGFLT4:1:1357:47388:28716,LH00995:48:23YTGFLT4:1:1476:7747:26222,LH00995:48:23YTGFLT4:1:1478:20982:24232,LH00995:48:23YTGFLT4:1:2225:24162:12924,LH00995:48:23YTGFLT4:1:2225:24170:12910,LH00995:48:23YTGFLT4:1:2285:15214:21528,LH00995:48:23YTGFLT4:1:2349:24194:20351,LH00995:48:23YTGFLT4:1:2391:29485:26741,LH00995:48:23YTGFLT4:1:2391:29501:26741,LH00995:48:23YTGFLT4:2:1206:29242:4377,LH00995:48:23YTGFLT4:2:1283:9770:7278,LH00995:48:23YTGFLT4:2:1327:50818:20253,LH00995:48:23YTGFLT4:2:1327:50834:20253,LH00995:48:23YTGFLT4:2:2114:4794:24078,LH00995:48:23YTGFLT4:2:2270:9381:12238,LH00995:48:23YTGFLT4:2:2398:50948:26222,LH00995:48:23YTGFLT4:2:2443:11760:10949,LH00995:48:23YTGFLT4:3:1148:21395:16876,LH00995:48:23YTGFLT4:3:1259:14300:1645,LH00995:48:23YTGFLT4:3:1301:32114:6941,LH00995:48:23YTGFLT4:3:1305:41563:2653,LH00995:48:23YTGFLT4:3:1305:41571:2667,LH00995:48:23YTGFLT4:3:1305:41579:2653,LH00995:48:23YTGFLT4:3:2164:43222:3004,LH00995:48:23YTGFLT4:3:2271:17188:25900,LH00995:48:23YTGFLT4:3:2374:27438:9099,LH00995:48:23YTGFLT4:4:1247:30553:18726,LH00995:48:23YTGFLT4:4:1461:16250:7207,LH00995:48:23YTGFLT4:4:2132:9406:12056,LH00995:48:23YTGFLT4:4:2335:6089:10823,LH00995:48:23YTGFLT4:5:1134:31499:12938,LH00995:48:23YTGFLT4:5:1225:47558:10458,LH00995:48:23YTGFLT4:5:1286:1906:15909,LH00995:48:23YTGFLT4:5:1341:39856:9674

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

5174

11101

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(10)

TGGCAAGAGCCACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1152:12561:28338,LH00995:48:23YTGFLT4:1:1181:17455:12378,LH00995:48:23YTGFLT4:1:1294:41612:4867,LH00995:48:23YTGFLT4:1:1294:41620:4881,LH00995:48:23YTGFLT4:1:2117:2578:18025,LH00995:48:23YTGFLT4:1:2138:39630:10795,LH00995:48:23YTGFLT4:2:1225:18652:9099,LH00995:48:23YTGFLT4:2:1245:12585:10444,LH00995:48:23YTGFLT4:2:1245:12593:10430,LH00995:48:23YTGFLT4:2:1297:1259:10837,LH00995:48:23YTGFLT4:2:1331:45811:12616,LH00995:48:23YTGFLT4:2:1331:45819:12602,LH00995:48:23YTGFLT4:2:1464:26217:10262,LH00995:48:23YTGFLT4:2:2428:4924:25255,LH00995:48:23YTGFLT4:2:2444:3678:11047,LH00995:48:23YTGFLT4:2:2486:5498:22943,LH00995:48:23YTGFLT4:3:1265:21702:15951,LH00995:48:23YTGFLT4:3:1419:16565:14760,LH00995:48:23YTGFLT4:3:2167:44678:19146,LH00995:48:23YTGFLT4:3:2179:35916:3018,LH00995:48:23YTGFLT4:3:2430:9284:2149,LH00995:48:23YTGFLT4:3:2450:13313:2541,LH00995:48:23YTGFLT4:4:1252:5102:11355,LH00995:48:23YTGFLT4:4:1497:44718:1504,LH00995:48:23YTGFLT4:4:2122:4196:1182,LH00995:48:23YTGFLT4:4:2134:27907:6717,LH00995:48:23YTGFLT4:4:2225:41717:16568,LH00995:48:23YTGFLT4:4:2294:18086:17450,LH00995:48:23YTGFLT4:5:1154:13620:7221,LH00995:48:23YTGFLT4:5:1155:17512:21640,LH00995:48:23YTGFLT4:5:1155:17520:21654,LH00995:48:23YTGFLT4:5:1168:39266:4643,LH00995:48:23YTGFLT4:5:1183:43586:12518

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

2892

low

out-of-frame

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

ENSG00000091073.19

ENST00000324432.9

downstream

upstream

duplicates(6),mismatches(3)

CTCCACCTCCGGTGCAGTCAG___...AGTGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGCGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATG

SASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqd

LH00995:48:23YTGFLT4:1:2102:38740:16456,LH00995:48:23YTGFLT4:4:1329:17835:19678,LH00995:48:23YTGFLT4:4:1486:17382:6423,LH00995:48:23YTGFLT4:4:1486:17390:6437,LH00995:48:23YTGFLT4:4:1486:17398:6423,LH00995:48:23YTGFLT4:1:1120:42000:12770,LH00995:48:23YTGFLT4:1:1133:6534:23588,LH00995:48:23YTGFLT4:1:1433:48238:18866,LH00995:48:23YTGFLT4:1:2355:12116:28632,LH00995:48:23YTGFLT4:1:2394:34703:9379,LH00995:48:23YTGFLT4:2:1442:33352:8749,LH00995:48:23YTGFLT4:2:2164:48011:9281,LH00995:48:23YTGFLT4:2:2213:31896:25115,LH00995:48:23YTGFLT4:2:2397:49435:5330,LH00995:48:23YTGFLT4:2:2447:47234:24891,LH00995:48:23YTGFLT4:2:2486:6582:7558,LH00995:48:23YTGFLT4:3:1114:12844:27876,LH00995:48:23YTGFLT4:3:1134:37098:3578,LH00995:48:23YTGFLT4:3:1333:37195:22803,LH00995:48:23YTGFLT4:3:1340:10732:26628,LH00995:48:23YTGFLT4:3:1409:15861:7936,LH00995:48:23YTGFLT4:3:1409:15869:7922,LH00995:48:23YTGFLT4:3:1409:15878:7936,LH00995:48:23YTGFLT4:3:1409:15886:7950,LH00995:48:23YTGFLT4:3:2151:45050:7740,LH00995:48:23YTGFLT4:3:2196:31054:18669,LH00995:48:23YTGFLT4:3:2307:11525:5498,LH00995:48:23YTGFLT4:5:1201:24129:28730,LH00995:48:23YTGFLT4:5:1339:50745:11215

PPDPF

FP236383.3

+/+

chr20:63521935

chr21:8399951

3'UTR

intron

translocation

7283

11101

low

stop-codon

Differentiation_and_proliferation_regulator(100%)|

ENSG00000125534.10

ENSG00000280441.3

ENST00000370179.8

downstream

upstream

duplicates(16),mismatches(16),multimappers(3)

TTGGTGGGCCAGCTTCTTTTTCGGGAAGTCCACCCTCCCGTTCATGGCCACGGTGTTGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCCAGCACAGCCAGCGCTGGGCCCCCGTCCTGACCTGAGCGGTTACCACCAGCCCCAGGCCTGCGGAGGCGCTAGTCCACCAGAGCCCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1123:35957:16147,LH00995:48:23YTGFLT4:1:1128:36353:28941,LH00995:48:23YTGFLT4:1:1156:11849:26993,LH00995:48:23YTGFLT4:1:1159:39282:23504,LH00995:48:23YTGFLT4:1:1183:2586:13555,LH00995:48:23YTGFLT4:1:1227:1340:27679,LH00995:48:23YTGFLT4:1:1310:6275:18403,LH00995:48:23YTGFLT4:1:1340:2723:13737,LH00995:48:23YTGFLT4:1:1447:1760:27960,LH00995:48:23YTGFLT4:1:1447:1769:27946,LH00995:48:23YTGFLT4:1:1447:1777:27932,LH00995:48:23YTGFLT4:1:1447:1777:27960,LH00995:48:23YTGFLT4:1:1461:30148:14522,LH00995:48:23YTGFLT4:1:2164:40220:11481,LH00995:48:23YTGFLT4:1:2493:4301:27539,LH00995:48:23YTGFLT4:1:2493:4317:27539,LH00995:48:23YTGFLT4:1:2493:4325:27553,LH00995:48:23YTGFLT4:2:1109:2893:24597,LH00995:48:23YTGFLT4:2:1306:8127:12756,LH00995:48:23YTGFLT4:2:1356:39832:9015,LH00995:48:23YTGFLT4:2:1404:48925:4475,LH00995:48:23YTGFLT4:2:1452:10724:21486,LH00995:48:23YTGFLT4:2:1498:31944:15783,LH00995:48:23YTGFLT4:2:1498:31960:15783,LH00995:48:23YTGFLT4:2:2121:29550:8553,LH00995:48:23YTGFLT4:2:2288:50802:25858,LH00995:48:23YTGFLT4:2:2307:46975:7628,LH00995:48:23YTGFLT4:3:1215:44678:6731,LH00995:48:23YTGFLT4:3:1257:5514:20982,LH00995:48:23YTGFLT4:3:1301:5725:28464,LH00995:48:23YTGFLT4:3:1314:39492:3578,LH00995:48:23YTGFLT4:3:2106:17237:20771,LH00995:48:23YTGFLT4:3:2122:16484:14648,LH00995:48:23YTGFLT4:3:2309:4098:16007,LH00995:48:23YTGFLT4:3:2323:23417:23938,LH00995:48:23YTGFLT4:3:2325:9592:23812,LH00995:48:23YTGFLT4:4:1165:42445:22369,LH00995:48:23YTGFLT4:4:1188:39047:23041,LH00995:48:23YTGFLT4:4:1192:49985:23350,LH00995:48:23YTGFLT4:4:1220:6598:7726,LH00995:48:23YTGFLT4:4:1410:9956:16035,LH00995:48:23YTGFLT4:4:1412:45357:19370,LH00995:48:23YTGFLT4:4:1463:46644:4587,LH00995:48:23YTGFLT4:4:1476:44589:1476,LH00995:48:23YTGFLT4:4:2177:36944:20883,LH00995:48:23YTGFLT4:4:2177:36952:20897,LH00995:48:23YTGFLT4:4:2177:36960:20883,LH00995:48:23YTGFLT4:4:2211:33595:4881,LH00995:48:23YTGFLT4:4:2211:33603:4895,LH00995:48:23YTGFLT4:4:2332:39371:21080,LH00995:48:23YTGFLT4:4:2472:16687:19370,LH00995:48:23YTGFLT4:5:1160:46166:22817,LH00995:48:23YTGFLT4:5:1239:16525:13653,LH00995:48:23YTGFLT4:5:1416:28474:17703

SRRM2

FP236383.3

+/+

chr16:2769095

chr21:8399952

CDS

intron

translocation

12206

11101

low

out-of-frame

cwf21_domain(100%)|

ENSG00000167978.17

ENSG00000280441.3

ENST00000301740.13

downstream

upstream

duplicates(4)

TGACTCAGAGGGCTCTAGCCTTCCTGTGCAACCTGAGGTGGCACTGAAGAG___GGTCCCCAGCCCCACCCCAGCCCCAAAGGAGGCTGTTCGAGAGGGACGTCCTCCGGAGCCAACCCCAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

DSEGSSLPVQPEVALKRVPSPTPAPKEAVREGRPPEPTPAKRKRRSSSSs|papslslsp

LH00995:48:23YTGFLT4:1:1347:5805:28324,LH00995:48:23YTGFLT4:1:1416:9422:17520,LH00995:48:23YTGFLT4:1:1478:7901:19006,LH00995:48:23YTGFLT4:1:2170:1825:22074,LH00995:48:23YTGFLT4:2:1308:17148:20029,LH00995:48:23YTGFLT4:2:1486:38012:13261,LH00995:48:23YTGFLT4:2:2152:3589:23392,LH00995:48:23YTGFLT4:2:2393:30407:7992,LH00995:48:23YTGFLT4:2:2435:9624:23532,LH00995:48:23YTGFLT4:3:1205:29792:16259,LH00995:48:23YTGFLT4:3:1218:18264:6773,LH00995:48:23YTGFLT4:3:1218:18280:6773,LH00995:48:23YTGFLT4:3:1401:32478:26096,LH00995:48:23YTGFLT4:3:1401:32494:26096,LH00995:48:23YTGFLT4:3:1401:32511:26096,LH00995:48:23YTGFLT4:3:2192:8143:9505,LH00995:48:23YTGFLT4:3:2358:39614:10879,LH00995:48:23YTGFLT4:4:1271:3403:11832,LH00995:48:23YTGFLT4:4:1301:3783:2597,LH00995:48:23YTGFLT4:4:1324:24736:27735,LH00995:48:23YTGFLT4:4:2380:29008:7278,LH00995:48:23YTGFLT4:5:1272:37138:17689,LH00995:48:23YTGFLT4:5:1272:37146:17675

LEO1

-/-

chr15:51938155

chr15:51938214

3'UTR

CDS

duplication/ITD

200

265

low

stop-codon

Leo1-like_protein(100%)|

ENSG00000166477.13

ENST00000299601.10

upstream

downstream

duplicates(12)

ACTTACCAGTGATGAG___...TTAGGAAGGTGAACCTTCCGGAAAGAGAAAAGCAGAAGATGATGATAAAGCAAATAAAAAGCATAAGAAGTATGTGATCAGCGATGAAGAGGAAGAAGATGATGATaaA|g|CAAATAAAAAGCATAAGAAGTATGTGATCAGCGATGAAGAGGAAGAAGATGATGATaaAg

LH00995:48:23YTGFLT4:1:1361:26864:15279,LH00995:48:23YTGFLT4:2:1206:13774:7740,LH00995:48:23YTGFLT4:3:1213:50268:28408,LH00995:48:23YTGFLT4:3:1447:8459:14284,LH00995:48:23YTGFLT4:3:1447:8459:14284,LH00995:48:23YTGFLT4:3:1447:8467:14270,LH00995:48:23YTGFLT4:3:1447:8467:14270,LH00995:48:23YTGFLT4:3:1489:5045:11173,LH00995:48:23YTGFLT4:3:1489:5053:11187,LH00995:48:23YTGFLT4:3:2268:47971:22747,LH00995:48:23YTGFLT4:4:1190:36912:16343,LH00995:48:23YTGFLT4:4:1209:36766:29151,LH00995:48:23YTGFLT4:4:1238:48771:16203,LH00995:48:23YTGFLT4:4:1342:17140:5638,LH00995:48:23YTGFLT4:4:1342:17140:5638,LH00995:48:23YTGFLT4:4:1342:17148:5652,LH00995:48:23YTGFLT4:4:1342:17148:5652,LH00995:48:23YTGFLT4:4:2180:13103:19973,LH00995:48:23YTGFLT4:4:2180:13103:19973,LH00995:48:23YTGFLT4:1:2397:17762:23111,LH00995:48:23YTGFLT4:1:1361:26864:15279,LH00995:48:23YTGFLT4:2:1206:13774:7740,LH00995:48:23YTGFLT4:3:1213:50268:28408,LH00995:48:23YTGFLT4:3:1489:5045:11173,LH00995:48:23YTGFLT4:3:1489:5053:11187,LH00995:48:23YTGFLT4:3:2268:47971:22747,LH00995:48:23YTGFLT4:4:1190:36912:16343,LH00995:48:23YTGFLT4:4:1209:36766:29151,LH00995:48:23YTGFLT4:4:1238:48771:16203,LH00995:48:23YTGFLT4:4:2344:49718:16133

MLXIP

FP236383.3

+/+

chr12:122133580

chr21:8399958

CDS

intron

translocation

11102

11101

low

out-of-frame

ENSG00000175727.14

ENSG00000280441.3

ENST00000319080.12

downstream

upstream

duplicates(38),mismatches(39)

TGTGAGCCTTCCTGACAGCCTCATCGCGCCCCCTACCGCCCCATCCCTGGCTCACATGGATGAGCAGGGCTGTGAACACACCTCCCGGACTGAGGACCCGTTTATCCAGCCCACGGACTTCGGTCCCTCAGAGCCGCCACTGAGTGTCCCGCAGCCCTTCCTCCCTGTCTTCACCATGCCCCTGCTGTCTCCCAGCCCCGC|GCCCTCTCTCTCTCTCTCTCCCCC

VSLPDSLIAPPTAPSLAHMDEQGCEHTSRTEDPFIQPTDFGPSEPPLSVPQPFLPVFTMPLLSPSPa|pslslsp

LH00995:48:23YTGFLT4:1:1117:3249:18515,LH00995:48:23YTGFLT4:1:1198:30342:14326,LH00995:48:23YTGFLT4:1:1244:22673:9786,LH00995:48:23YTGFLT4:1:1257:1874:26783,LH00995:48:23YTGFLT4:1:1285:17835:16091,LH00995:48:23YTGFLT4:1:1357:17455:10444,LH00995:48:23YTGFLT4:1:1357:17471:10444,LH00995:48:23YTGFLT4:1:1382:22439:16273,LH00995:48:23YTGFLT4:1:1382:22447:16259,LH00995:48:23YTGFLT4:1:1388:31022:7936,LH00995:48:23YTGFLT4:1:2126:24113:3088,LH00995:48:23YTGFLT4:1:2127:24534:26068,LH00995:48:23YTGFLT4:1:2156:12002:4867,LH00995:48:23YTGFLT4:1:2216:34161:17717,LH00995:48:23YTGFLT4:1:2321:36863:24471,LH00995:48:23YTGFLT4:1:2327:2974:25073,LH00995:48:23YTGFLT4:1:2353:18984:23069,LH00995:48:23YTGFLT4:1:2362:31758:12798,LH00995:48:23YTGFLT4:1:2402:5215:16904,LH00995:48:23YTGFLT4:1:2474:50309:3340,LH00995:48:23YTGFLT4:2:1240:47380:9393,LH00995:48:23YTGFLT4:2:1279:12698:18151,LH00995:48:23YTGFLT4:2:1287:30245:28198,LH00995:48:23YTGFLT4:2:1287:30262:28198,LH00995:48:23YTGFLT4:2:1287:30278:28198,LH00995:48:23YTGFLT4:2:1483:34978:8875,LH00995:48:23YTGFLT4:2:1483:34986:8861,LH00995:48:23YTGFLT4:2:2144:8750:12686,LH00995:48:23YTGFLT4:2:2159:46717:4293,LH00995:48:23YTGFLT4:2:2180:23717:9940,LH00995:48:23YTGFLT4:2:2259:5579:2289,LH00995:48:23YTGFLT4:2:2284:1477:6283,LH00995:48:23YTGFLT4:2:2284:9406:20295,LH00995:48:23YTGFLT4:2:2291:16242:10164,LH00995:48:23YTGFLT4:2:2302:51854:8707,LH00995:48:23YTGFLT4:2:2353:6226:1336,LH00995:48:23YTGFLT4:2:2374:7545:2107,LH00995:48:23YTGFLT4:2:2410:13313:19412,LH00995:48:23YTGFLT4:3:1115:50446:18375,LH00995:48:23YTGFLT4:3:1131:35795:12756,LH00995:48:23YTGFLT4:3:1131:35811:12756,LH00995:48:23YTGFLT4:3:1160:25990:25872,LH00995:48:23YTGFLT4:3:1244:7666:1645,LH00995:48:23YTGFLT4:3:1266:3467:14578,LH00995:48:23YTGFLT4:3:1266:3476:14564,LH00995:48:23YTGFLT4:3:1367:21379:4994,LH00995:48:23YTGFLT4:3:1404:11282:9954,LH00995:48:23YTGFLT4:3:1434:17924:9744,LH00995:48:23YTGFLT4:3:1435:44654:22999,LH00995:48:23YTGFLT4:3:2107:17026:28422,LH00995:48:23YTGFLT4:3:2133:5077:22299,LH00995:48:23YTGFLT4:3:2169:2448:24807,LH00995:48:23YTGFLT4:3:2179:50600:25928,LH00995:48:23YTGFLT4:3:2219:44524:9772,LH00995:48:23YTGFLT4:3:2347:49038:5540,LH00995:48:23YTGFLT4:3:2348:15740:22999,LH00995:48:23YTGFLT4:3:2408:5805:6969,LH00995:48:23YTGFLT4:3:2437:47202:26292,LH00995:48:23YTGFLT4:3:2437:47210:26306,LH00995:48:23YTGFLT4:3:2447:38748:12210,LH00995:48:23YTGFLT4:4:1135:30480:5596,LH00995:48:23YTGFLT4:4:1176:6461:19118,LH00995:48:23YTGFLT4:4:1213:40406:21276,LH00995:48:23YTGFLT4:4:1229:39177:22621,LH00995:48:23YTGFLT4:4:1257:29614:3592,LH00995:48:23YTGFLT4:4:1291:32252:6507,LH00995:48:23YTGFLT4:4:1306:31896:16456,LH00995:48:23YTGFLT4:4:1317:49103:15012,LH00995:48:23YTGFLT4:4:1339:8742:10570,LH00995:48:23YTGFLT4:4:1350:39662:11944,LH00995:48:23YTGFLT4:4:1373:20990:7292,LH00995:48:23YTGFLT4:4:1377:21945:14746,LH00995:48:23YTGFLT4:4:1409:15230:15194,LH00995:48:23YTGFLT4:4:2177:51587:18950,LH00995:48:23YTGFLT4:4:2224:15602:23322,LH00995:48:23YTGFLT4:4:2260:14211:14774,LH00995:48:23YTGFLT4:4:2305:31378:5050,LH00995:48:23YTGFLT4:4:2370:29687:24905,LH00995:48:23YTGFLT4:4:2375:48197:6016,LH00995:48:23YTGFLT4:4:2453:34760:4153,LH00995:48:23YTGFLT4:4:2455:30804:5232,LH00995:48:23YTGFLT4:4:2490:23490:22523,LH00995:48:23YTGFLT4:5:1128:13984:22117,LH00995:48:23YTGFLT4:5:1142:26467:22607,LH00995:48:23YTGFLT4:5:1154:3629:9786,LH00995:48:23YTGFLT4:5:1185:38594:21304,LH00995:48:23YTGFLT4:5:1209:7828:6745,LH00995:48:23YTGFLT4:5:1230:49985:19903,LH00995:48:23YTGFLT4:5:1265:43206:8272,LH00995:48:23YTGFLT4:5:1267:12059:24499,LH00995:48:23YTGFLT4:5:1269:1129:11117,LH00995:48:23YTGFLT4:5:1269:3500:9449,LH00995:48:23YTGFLT4:5:1344:40730:19342,LH00995:48:23YTGFLT4:5:1410:12536:22103

WBP2

FP236383.3

-/-

+/+

chr17:75846715

chr21:8399954

3'UTR

intron

translocation

3315

11101

low

stop-codon

GRAM_domain(100%)|

ENSG00000132471.12

ENSG00000280441.3

ENST00000591399.5

upstream

duplicates(4)

GCCGCCAGCGCCTATTACAACCCAGGCAATCCTCACAACGTCTACATGCCCACG___AGCCAGCCGCCGCCACCTCCCTACTACCCACCGGAAGATAAGAAGACCCAGTAGGCCCTCCTGCCTCCCTGCC|CCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1163:14874:5218,LH00995:48:23YTGFLT4:1:1219:15295:2527,LH00995:48:23YTGFLT4:1:1340:10441:14354,LH00995:48:23YTGFLT4:1:1418:31370:14620,LH00995:48:23YTGFLT4:1:2123:12585:11341,LH00995:48:23YTGFLT4:1:2162:20376:26516,LH00995:48:23YTGFLT4:1:2289:42429:20855,LH00995:48:23YTGFLT4:1:2392:50478:14059,LH00995:48:23YTGFLT4:2:1209:48788:19062,LH00995:48:23YTGFLT4:2:2353:5053:2135,LH00995:48:23YTGFLT4:2:2474:7569:11257,LH00995:48:23YTGFLT4:3:1309:37712:14144,LH00995:48:23YTGFLT4:3:1347:41393:10486,LH00995:48:23YTGFLT4:3:2422:27600:14508,LH00995:48:23YTGFLT4:4:1132:14195:25479,LH00995:48:23YTGFLT4:4:2226:6898:26348,LH00995:48:23YTGFLT4:5:1205:47768:7488,LH00995:48:23YTGFLT4:5:1251:28975:8286

BMS1P2

-/-

chr10:47542167

chr10:47544529

exon/splice-site

duplication/non-canonical_splicing

469

364

low

ENSG00000251079.6

ENST00000532854.5

upstream

downstream

duplicates(1)

GGCAGGTGTCACTTTATGGTTATTTAAGAGGAGCACACTTCAAAGATAAAAGCCAAATTCACATGCCAG___GACAAGGTGGGGCTCACCCATGAGCTGGTCCAGAGTCTCATCTCCACCTACTCCACCATTGATGCCAAGATGGCTTCAAGTCGAGTGACGCTGCTTTCCAATTCCAAACCACTTGGGTCAGAGGCTATAGATAATCAAGG|GTTGCCAAACTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCATTTTATTACAGTTATGAAGTTTAGGCCTCTCATGGCAAACTTTTCACCCTTATATCCTGGCAGACAG

LH00995:48:23YTGFLT4:1:1384:27195:12154,LH00995:48:23YTGFLT4:2:1337:15910:18249,LH00995:48:23YTGFLT4:2:1466:3621:28941,LH00995:48:23YTGFLT4:2:1478:27398:14326,LH00995:48:23YTGFLT4:3:2165:18838:16792,LH00995:48:23YTGFLT4:3:2226:40245:11551,LH00995:48:23YTGFLT4:3:2433:35358:16400,LH00995:48:23YTGFLT4:3:2488:2205:17969,LH00995:48:23YTGFLT4:4:1358:43392:24288,LH00995:48:23YTGFLT4:4:1358:43408:24288,LH00995:48:23YTGFLT4:4:1456:8516:9113,LH00995:48:23YTGFLT4:4:2259:11024:1546,LH00995:48:23YTGFLT4:1:2172:37996:5694,LH00995:48:23YTGFLT4:3:1167:23029:1154,LH00995:48:23YTGFLT4:4:1131:5061:27007,LH00995:48:23YTGFLT4:4:2449:44702:4195

VWA2

+/+

chr10:114289402

chr10:114289394

CDS

duplication/ITD

255

195

low

in-frame

EGF-like_domain(45%),von_Willebrand_factor_type_A_domain(99%)|EGF-like_domain(54%),von_Willebrand_factor_type_A_domain(1%)

ENSG00000165816.13

ENST00000392982.8

downstream

upstream

duplicates(10)

ACCGTCCAGAGGGGTGCCCGGCCTGGTGTCCCCAAAGCTGTGGTGGTGCTCACAGGCGGGAGAGGCGCAGAGGATGCAGCCGTTCCTGCCCAGAAGCTGAGGAACAATGGCATCTCTGTCTTGGTCGTGGGCGTGGGGCCTGTCCTAAGTGAGGGTCTGCGGAGGCTTG|GGAGGCTTGCAGGTCCCCGGGATTCCCTGATCCACGTGGCAGCTTACGCCGACCTGCGGTACCACCAGGACGTGCTCATTGAGTGGCTGTGTGGAGGTGAGTGGGGG...___AAGCCAAGCAGCCAGTCAACCTCTGCAAACCCAGCCCGTGCATGAATGAGG

TVQRGARPGVPKAVVVLTGGRGAEDAAVPAQKLRNNGISVLVVGVGPVLSEGLRRL|gRLAGPRDSLIHVAAYADLRYHQDVLIEWLCGgew

LH00995:48:23YTGFLT4:1:1417:21265:12756,LH00995:48:23YTGFLT4:1:1417:21265:12756,LH00995:48:23YTGFLT4:1:1422:44298:21122,LH00995:48:23YTGFLT4:2:2382:29404:29179,LH00995:48:23YTGFLT4:2:2382:29404:29179,LH00995:48:23YTGFLT4:3:1255:40592:7081,LH00995:48:23YTGFLT4:3:2469:40625:7474,LH00995:48:23YTGFLT4:4:1406:19979:20589,LH00995:48:23YTGFLT4:1:1437:21120:2892,LH00995:48:23YTGFLT4:1:2133:22139:16792,LH00995:48:23YTGFLT4:1:2133:22139:16792,LH00995:48:23YTGFLT4:1:2253:37688:16876,LH00995:48:23YTGFLT4:1:2253:37688:16876,LH00995:48:23YTGFLT4:2:1163:1898:13765,LH00995:48:23YTGFLT4:2:1163:1898:13765,LH00995:48:23YTGFLT4:2:2125:20707:27567,LH00995:48:23YTGFLT4:2:2293:19963:9772,LH00995:48:23YTGFLT4:2:2382:20812:20295,LH00995:48:23YTGFLT4:2:2435:33190:15923,LH00995:48:23YTGFLT4:3:2172:8896:18179,LH00995:48:23YTGFLT4:3:2226:45236:15909,LH00995:48:23YTGFLT4:4:2483:14340:25648,LH00995:48:23YTGFLT4:5:1114:18426:6661

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

175

155

low

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(39)

TCTCAAGACACCTGCGGAGTGTCTGCTCTATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCA

LKTPAECLLYPLPPSADDNLKTPPECLLTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstl

LH00995:48:23YTGFLT4:1:1464:31192:22074,LH00995:48:23YTGFLT4:1:1464:31192:22074,LH00995:48:23YTGFLT4:1:1464:31192:22074,LH00995:48:23YTGFLT4:1:2341:9203:20813,LH00995:48:23YTGFLT4:1:2341:9203:20813,LH00995:48:23YTGFLT4:1:2341:9203:20813,LH00995:48:23YTGFLT4:2:1356:22972:1280,LH00995:48:23YTGFLT4:2:1356:22972:1280,LH00995:48:23YTGFLT4:2:1356:22972:1280,LH00995:48:23YTGFLT4:2:2162:19510:15068,LH00995:48:23YTGFLT4:2:2162:19510:15068,LH00995:48:23YTGFLT4:2:2162:19510:15068,LH00995:48:23YTGFLT4:2:2168:6776:15208,LH00995:48:23YTGFLT4:2:2168:6776:15208,LH00995:48:23YTGFLT4:2:2168:6776:15208,LH00995:48:23YTGFLT4:3:1173:49216:1504,LH00995:48:23YTGFLT4:3:1173:49216:1504,LH00995:48:23YTGFLT4:3:1173:49216:1504,LH00995:48:23YTGFLT4:3:1284:51069:7656,LH00995:48:23YTGFLT4:3:1284:51069:7656,LH00995:48:23YTGFLT4:3:1284:51069:7656,LH00995:48:23YTGFLT4:3:1284:51085:7656,LH00995:48:23YTGFLT4:3:1284:51085:7656,LH00995:48:23YTGFLT4:3:1284:51085:7656,LH00995:48:23YTGFLT4:3:1465:12488:3046,LH00995:48:23YTGFLT4:3:1465:12488:3046,LH00995:48:23YTGFLT4:3:1465:12488:3046,LH00995:48:23YTGFLT4:3:2278:42340:8258,LH00995:48:23YTGFLT4:3:2278:42340:8258,LH00995:48:23YTGFLT4:3:2278:42340:8258,LH00995:48:23YTGFLT4:3:2412:15069:22313,LH00995:48:23YTGFLT4:3:2412:15069:22313,LH00995:48:23YTGFLT4:3:2412:15069:22313,LH00995:48:23YTGFLT4:3:2480:4584:3340,LH00995:48:23YTGFLT4:3:2480:4584:3340,LH00995:48:23YTGFLT4:3:2480:4584:3340,LH00995:48:23YTGFLT4:4:1147:13596:4405,LH00995:48:23YTGFLT4:4:1177:29137:10584,LH00995:48:23YTGFLT4:4:1177:29137:10584,LH00995:48:23YTGFLT4:4:1177:29137:10584,LH00995:48:23YTGFLT4:4:1301:19405:24891,LH00995:48:23YTGFLT4:4:1301:19405:24891,LH00995:48:23YTGFLT4:4:1301:19405:24891,LH00995:48:23YTGFLT4:4:1393:12188:22285,LH00995:48:23YTGFLT4:4:1393:12188:22285,LH00995:48:23YTGFLT4:4:1393:12188:22285,LH00995:48:23YTGFLT4:4:1449:40018:20799,LH00995:48:23YTGFLT4:4:1449:40018:20799,LH00995:48:23YTGFLT4:4:1449:40018:20799,LH00995:48:23YTGFLT4:4:2298:27487:3999,LH00995:48:23YTGFLT4:4:2298:27487:3999,LH00995:48:23YTGFLT4:4:2298:27487:3999

LRRC37A

+/+

chr17:46332656

chr17:46328392

CDS/splice-site

duplication/non-canonical_splicing

603

1338

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(3),mismatches(1)

AATGAGAGCACAGAAGCCCAGAGTGAACAGAAAGAGAAGTCGCTTGAG___...TTgAGCTCAAAAAAGAAGTTCCAGGATATGGCTATACTGACAAACTCATCTTGGCATTAATTGTTACTGGAATACTAACGATTTTGATTATACTTTTCTGCCTCATTGTG|GATCTTACCTAGCCATATGGCCTGCTGCCTCTGCCAATTTAAAAACAGCATTGAGGCTGTCTGCAAGACAGTCAAGCTGCATTGCAACAGTGCATGTCTGACAAACACCACACATTGTC___CTGAAGAAGCATCGGTAGGGAATCCAGAAGGAGCGTTCATGAAGGTGTTACAAGCCCGGAAGAACTACACAAGCACTGAGCTGATTGTTGAGCCAGAGGAGCCC

eLKKEVPGYGYTDKLILALIVTGILTILIILFCLIV|dlt*

LH00995:48:23YTGFLT4:1:2231:6412:9870,LH00995:48:23YTGFLT4:2:1363:38327:11481,LH00995:48:23YTGFLT4:3:1315:29631:1827,LH00995:48:23YTGFLT4:4:2332:12472:2878,LH00995:48:23YTGFLT4:4:2332:12480:2892,LH00995:48:23YTGFLT4:5:1143:41968:1560,LH00995:48:23YTGFLT4:5:1189:37437:4699,LH00995:48:23YTGFLT4:5:1218:50762:22705,LH00995:48:23YTGFLT4:5:1218:50770:22719,LH00995:48:23YTGFLT4:1:2228:3912:17478,LH00995:48:23YTGFLT4:3:2459:22261:9463,LH00995:48:23YTGFLT4:4:1423:51522:2611,LH00995:48:23YTGFLT4:4:2224:46555:12308

ZNF559

ZNF177

+/+

chr19:9341184

chr19:9364862

CDS/splice-site

5'UTR/splice-site

deletion/read-through

779

low

KRAB_box(100%)|C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc-finger_double_domain(100%),Zinc_finger__C2H2_type(100%)

ENSG00000188321.14

ENSG00000188629.13

ENST00000605750.5

ENST00000592912.5

downstream

upstream

duplicates(3)

TCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG___ATTGGGAGAGTCATATTAATACCAAATGGTCAGCACCTCAGCAGAATTTTTTGCAGGGGAAAACATCCAGTGTGGTGGAAATG|GGCTGGGTATAAGTAAGCAAGAAGAGGGCCTGGGAGAAGAGTCTGACGAGCAAGGGGAAGGTA...TCAGCCTCCTGAGTACATTTATATTTAAAGTAATTATTGATGG___CTCTGCCTGCTTAGGACTCTGCCCAGCCAGGAAGGAAACCTACAGGAGGAAGAATGGCTGCAGGGTGGCTGACAACCTGGTCACAG___AACTCAGTAACCTTCCAGGAAG

LH00995:48:23YTGFLT4:1:1415:15376:20968,LH00995:48:23YTGFLT4:1:2277:45268:27735,LH00995:48:23YTGFLT4:2:1192:24129:22957,LH00995:48:23YTGFLT4:2:1192:24137:22943,LH00995:48:23YTGFLT4:2:1410:50745:13597,LH00995:48:23YTGFLT4:2:1440:4001:29347,LH00995:48:23YTGFLT4:3:1234:51231:7207,LH00995:48:23YTGFLT4:3:1234:51247:7207,LH00995:48:23YTGFLT4:4:1434:33239:21220,LH00995:48:23YTGFLT4:4:2347:4220:27848,LH00995:48:23YTGFLT4:2:1225:26823:13443

ZNF559

ZNF177

+/+

chr19:9341184

chr19:9376316

CDS/splice-site

5'UTR/splice-site

deletion/read-through

779

low

KRAB_box(100%)|C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc-finger_double_domain(100%),Zinc_finger__C2H2_type(100%)

ENSG00000188321.14

ENSG00000188629.13

ENST00000605750.5

ENST00000343499.8

downstream

upstream

duplicates(2)

CTCCTCTGAGAGCCACAGTCAG___GAACAGCATCTCTGCCTTCCTGTTCACGGTGACCTTCGCTTGGTGTCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG___ATTGGGAGAGTCATATTAATACCAAATGGTCAGCACCTCAGCAGAATTTTTTGCAGGGGAAAACATCCAGTGTGGTGGAAATG|AGATGCGGTCTTGCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGCTCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTACATTTATATTTAAAGTAATTATTGATGG

LH00995:48:23YTGFLT4:2:1287:14316:5596,LH00995:48:23YTGFLT4:3:2118:19834:16301,LH00995:48:23YTGFLT4:3:2480:18855:21192,LH00995:48:23YTGFLT4:4:1455:6687:9898,LH00995:48:23YTGFLT4:4:2110:1639:8973,LH00995:48:23YTGFLT4:4:2171:41490:26264,LH00995:48:23YTGFLT4:5:1202:2836:2051,LH00995:48:23YTGFLT4:2:1225:26823:13443

ZNF559

ZNF177

+/+

chr19:9324780

chr19:9376316

CDS/splice-site

5'UTR/splice-site

deletion/read-through

574

low

out-of-frame

|C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc-finger_double_domain(100%),Zinc_finger__C2H2_type(100%)

ENSG00000188321.14

ENSG00000188629.13

ENST00000587557.5

ENST00000343499.8

downstream

upstream

GGTGGTCCTAGCCTTTGCGCGTGCGCGGCGTGTCTGCGTGGGCGCATGCGCATAACGGCCGCCATCTTAACAGCGCGTTCCCGTTGGCGTCTGAG___GAACAGCATCTCTGCCTTCCTGTTCACGGTGACCTTCGCTTGGTGTCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG|AGATGCGGTCTTGCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGCTCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTACATTTATATTTAAAGTAATTATTGATGG___CTCTGCCTGCTTAGGACTCTGCCCAGCCAGGAAGGAAAC...CAAAGATGTGATGCTGGAGAACTTTAGGAACCTGGCCTCAGTAG___GGTATCAGCTCTGCAGACACAGTCTGATCTCCAAGGTGGATCAAGAACAGCTGAAGACAGATGAAAGAGGAATTTTACAAGGTGACTGTGCAG___ACTGGGAAACTCAA

MRITAAILTARSRWRLRNSISAFLFTVTFAWCPPGLSNLTILSCP|emrsccva*

LH00995:48:23YTGFLT4:1:2226:7707:10318,LH00995:48:23YTGFLT4:2:1268:33587:10108,LH00995:48:23YTGFLT4:3:1171:27584:16357,LH00995:48:23YTGFLT4:5:1185:20206:15461,LH00995:48:23YTGFLT4:2:1225:26823:13443

ZNF559

ZNF177

+/+

chr19:9324780

chr19:9364862

CDS/splice-site

5'UTR/splice-site

deletion/read-through

574

low

out-of-frame

|C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc-finger_double_domain(100%),Zinc_finger__C2H2_type(100%)

ENSG00000188321.14

ENSG00000188629.13

ENST00000587557.5

ENST00000343499.8

downstream

upstream

duplicates(1)

GCCGCCATCTTAACAGCGCGTTCCCGTTGGCGTCTGAG___GAACAGCATCTCTGCCTTCCTGTTCACGGTGACCTTCGCTTGGTGTCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG|GGCTGGGTATAAGTAAGCAAGAAGAGGGCCTGGGAGAAGAGTCTGACGAGCAAGGGGAAGGTAGCCAAGGATGGAGTGAAATACAGG___GTGACCTGTGTTTTTCCC

AAILTARSRWRLRNSISAFLFTVTFAWCPPGLSNLTILSCP|glgiskqeeglgeesdeqgegsqgwseiqgdlcfs

LH00995:48:23YTGFLT4:2:1324:31831:29291,LH00995:48:23YTGFLT4:5:1165:51198:18277,LH00995:48:23YTGFLT4:5:1237:29663:25311,LH00995:48:23YTGFLT4:5:1237:29671:25325,LH00995:48:23YTGFLT4:4:2250:2133:12826,LH00995:48:23YTGFLT4:2:1225:26823:13443

LRTOMT

AP000812.3

+/+

chr11:72095096

chr11:72107923

CDS/splice-site

deletion/read-through

1181

low

out-of-frame

Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(96%)

ENSG00000184154.15

ENSG00000284844.1

ENST00000289488.7

ENST00000541899.2

downstream

upstream

duplicates(3),mismatches(1)

ACTTCCATTGACCCT___GTCCTAACAACTTTCTTCAACCTGAGTGTCCTCTATCTTCACGGCAACAGCATCCAGCGCCTGGGGGAGGTGAATAAGCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCC

TSIDPVLTTFFNLSVLYLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYr|sdpdaagggegpclcagignllwilypayc

LH00995:48:23YTGFLT4:1:1239:5247:21360,LH00995:48:23YTGFLT4:1:2232:23061:18726,LH00995:48:23YTGFLT4:2:2285:45455:10122,LH00995:48:23YTGFLT4:3:2250:39614:21416,LH00995:48:23YTGFLT4:3:2416:43675:28422,LH00995:48:23YTGFLT4:4:1227:43553:26250,LH00995:48:23YTGFLT4:4:2385:3314:11481,LH00995:48:23YTGFLT4:1:1390:6178:9491,LH00995:48:23YTGFLT4:1:1390:6186:9505,LH00995:48:23YTGFLT4:1:1448:19656:11902,LH00995:48:23YTGFLT4:3:2230:37033:9127

LRTOMT

AP000812.3

+/+

chr11:72095096

chr11:72108605

CDS/splice-site

deletion/read-through

1181

low

out-of-frame

Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(46%)

ENSG00000184154.15

ENSG00000284844.1

ENST00000289488.7

ENST00000541899.2

downstream

upstream

GCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTGGAGCTCATCGTGGGCAGCTCAGAG

LAVLPRLRSLTLHGNPMEEEKGYr|wssswaaq

LH00995:48:23YTGFLT4:2:2393:12415:15391

RPSAP52

HMGA2

-/-

+/+

chr12:65826843

chr12:65828001

exon/splice-site

CDS/splice-site

inversion

34828

low

|AT_hook_motif(72%)

ENSG00000241749.4

ENSG00000149948.14

ENST00000489520.2

ENST00000403681.7

upstream

duplicates(6)

GGAAGGTTCCCTGCAAGCTTCTGTGGGACCACTAGCACCAGTGGGCACATCGAGAGCAAACACATCGGAGACAAATTTTTCTTTCTTTGTGAACTCTGCCTTAACTCAAAG|GAACCAACCGGTGAGCCCTCTCCTAAGAGACCCAGGGGAAGACCCAAAGGCAGCAAAAACAAGAGTCCCTCTAAAGCAGCTCAAAAG___AAAGCAGAAGCCACTGGAGAAAAACGGCCAAGAGGCAGACCTAGGAAATGG

LH00995:48:23YTGFLT4:1:1115:31249:7404,LH00995:48:23YTGFLT4:1:2248:15279:24555,LH00995:48:23YTGFLT4:2:1168:5894:7516,LH00995:48:23YTGFLT4:2:1429:28894:3915,LH00995:48:23YTGFLT4:2:1457:14146:21724,LH00995:48:23YTGFLT4:2:1457:14154:21710,LH00995:48:23YTGFLT4:2:2353:31216:3816,LH00995:48:23YTGFLT4:2:2486:11452:22971,LH00995:48:23YTGFLT4:3:2328:40787:20533,LH00995:48:23YTGFLT4:3:2404:3775:20659,LH00995:48:23YTGFLT4:4:1212:48771:17324,LH00995:48:23YTGFLT4:4:2345:19429:7614,LH00995:48:23YTGFLT4:4:2345:19437:7600

RPSAP52

HMGA2

-/-

+/+

chr12:65826843

chr12:65838519

exon/splice-site

CDS/splice-site

inversion

37887

low

|AT_hook_motif(40%)

ENSG00000241749.4

ENSG00000149948.14

ENST00000489520.2

ENST00000541363.5

upstream

GCAAACACATCGGAGACAAATTTTTCTTTCTTTGTGAACTCTGCCTTAACTCAAAG|AAAGCAGAAGCCACTGGAGAAAAACGGCCAAGAGGCAGACCTAGGAAATGG___CCACAACAAGTTGTTCAGAAGAAGCCTGCTCAGGTAAGACATAGTCATTAATTTTTTTCTCCCAATTAATATAAAAAGTGAAATATGTACTGAAAAATGTCCCCAAACTAAACCTTATTTCGCATTTTCTTACTTTTGGTTATCGTCCTGCAGTATTCCTGAAAATGTGTTGTAG

LH00995:48:23YTGFLT4:5:1140:1356:27287

SLCO1B3

SLCO1B7

+/+

chr12:20901467

chr12:21015639

CDS/splice-site

exon/splice-site

deletion/read-through

378

low

out-of-frame

Kazal-type_serine_protease_inhibitor_domain(100%),Organic_Anion_Transporter_Polypeptide_(OATP)_family(100%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(6),mismappers(3)

AGGAAATTTTTCATCTATGTTGCAATTCAAGTCATAAACTCTTTGTTCTCTGCAACAGGAGGTACCACATTTATCTTGTTGACTGTGAA___GATTGTTCAACCTGAATTGAAAGCACTTGCAATGGGTTTCCAGTCAATGGTTATAAGAACACTAG___GAGGAATTCTAGCTCCAATATATTTTGGGGCTCTGATTGATAAAACATGTATGAAGTGGTCCACCAACAGCTGTGGAGCACAAGGaGCTTGTAGGATATATAATTCCGTATTTTTTGG|ATCTTCTTGACACTCCTGTCATTCAGCTATGTTGCTAAAGCACTAGCTGGAATTTTTATGAAAATATCAACCACTCAAATAGAAA

RKFFIYVAIQVINSLFSATGGTTFILLTVKIVQPELKALAMGFQSMVIRTLGGILAPIYFGALIDKTCMKWSTNSCGAQGACRIYNSVFFg|ss*

LH00995:48:23YTGFLT4:1:1206:40932:3270,LH00995:48:23YTGFLT4:1:2309:22390:4167,LH00995:48:23YTGFLT4:2:1476:15691:18515,LH00995:48:23YTGFLT4:2:2128:24995:16301,LH00995:48:23YTGFLT4:2:2128:25003:16315,LH00995:48:23YTGFLT4:3:2164:3848:17310,LH00995:48:23YTGFLT4:3:2334:48238:25704,LH00995:48:23YTGFLT4:4:1278:15594:28044,LH00995:48:23YTGFLT4:4:2178:44079:7235,LH00995:48:23YTGFLT4:4:2178:44095:7235,LH00995:48:23YTGFLT4:4:2178:44104:7249,LH00995:48:23YTGFLT4:4:2178:44112:7235,LH00995:48:23YTGFLT4:4:2302:41078:16918,LH00995:48:23YTGFLT4:4:2481:9697:5022,LH00995:48:23YTGFLT4:5:1383:39193:11635

SLCO1B3

SLCO1B7

+/+

chr12:20858571

chr12:21015639

CDS/splice-site

exon/splice-site

deletion/read-through

546

low

stop-codon

Organic_Anion_Transporter_Polypeptide_(OATP)_family(12%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(2)

TGGCAATGTATGGCCACGTTACTGAATCTACATGTTGCAAGAGAAAAACTAGCAG___ATGTTCTTGGCAGCCCTGTCATTCAGCTATATTGCTAAAGCACTAGGTGGAATCATTATGAAA...TCCTTATGGGAACTGGAAGTATTTTGACATCTTTACCACATTTCTTCATGGGATA|ATCTTCTTGACACTCCTGTCATTCAGCTATGTTGCTAAAGCACTAGCTGGAATTTTTATGAAA

LH00995:48:23YTGFLT4:2:1103:42340:25185,LH00995:48:23YTGFLT4:2:2468:3241:19875,LH00995:48:23YTGFLT4:2:2468:3249:19889

SLCO1B3

SLCO1B7

+/+

chr12:20883601

chr12:21067321

CDS/splice-site

exon/splice-site

deletion/read-through

599

low

out-of-frame

Kazal-type_serine_protease_inhibitor_domain(100%),Organic_Anion_Transporter_Polypeptide_(OATP)_family(91%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(1),mismatches(1)

GGGTGAATGCCCAAGAtATAATACTTGTACAAGGAAATTTTTCATCTATGTTGCAATTCAAGTCATAAACTCTTTGTTCTCTGCAACAGGAGGTACCACATTTATCTTGTTGACTGTGA|TTGTTCAACCTGAAT

GECPRyNTCTRKFFIYVAIQVINSLFSATGGTTFILLTV|ivqpe

LH00995:48:23YTGFLT4:1:1147:51182:6731,LH00995:48:23YTGFLT4:4:1290:20926:27189

SLCO1B3

SLCO1B7

+/+

chr12:20901467

chr12:21067319

CDS/splice-site

exon/splice-site

deletion/read-through

378

low

out-of-frame

Kazal-type_serine_protease_inhibitor_domain(100%),Organic_Anion_Transporter_Polypeptide_(OATP)_family(100%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

mismatches(1)

AGGAATTCTAGCTCCAATATATTTTGGGGCTCTGATTGATAAAACATGTATGAAGTGGTCCACCAACAGCTGTGGAGCACAAGGaGCTTGTAGGATATATAATTCCGTATTTTTTGG|GATTGTTCAACCTGAATTGAAA

GILAPIYFGALIDKTCMKWSTNSCGAQGACRIYNSVFFg|ivqpel

LH00995:48:23YTGFLT4:5:1173:21799:4153

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

219

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(2),mismappers(1)

CGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGCCACAGCAGGAGCCCAGGGCAGACCATCAG

LH00995:48:23YTGFLT4:1:1368:14688:26166,LH00995:48:23YTGFLT4:1:1368:14696:26152,LH00995:48:23YTGFLT4:1:1471:24534:25059,LH00995:48:23YTGFLT4:1:1480:47987:21038,LH00995:48:23YTGFLT4:2:1350:22026:24611,LH00995:48:23YTGFLT4:2:1350:22034:24625,LH00995:48:23YTGFLT4:2:1497:5369:29725,LH00995:48:23YTGFLT4:3:1103:46280:5610,LH00995:48:23YTGFLT4:3:2174:41725:4895

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

105

1400

low

out-of-frame

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

ENSG00000082196.21

ENSG00000242110.8

ENST00000382065.8

ENST00000335606.11

upstream

downstream

duplicates(2)

GCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCT

LAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpryqlfg

LH00995:48:23YTGFLT4:1:1164:4576:21430,LH00995:48:23YTGFLT4:1:1411:22495:3452,LH00995:48:23YTGFLT4:1:2198:31151:11944,LH00995:48:23YTGFLT4:2:1277:14082:10935,LH00995:48:23YTGFLT4:2:1277:14098:10935,LH00995:48:23YTGFLT4:3:1289:27996:24443,LH00995:48:23YTGFLT4:3:2361:10255:25522,LH00995:48:23YTGFLT4:2:2427:33441:1673

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

153

low

in-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

GCTGGTTCCTTAAGGTCCTGTGACAATATAAGGATACACTTTCCTGTCCCATCGCAGTGGATCAAGGCCCTTTGGACCATGAACCTCCAGAGGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAtGAAC...GGCAGTGGTATGGAAGATAGATtGGCTTCCAGACAAAAATTCAA___GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACA

AVVWKIDwLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKA

LH00995:48:23YTGFLT4:2:2260:28239:3256,LH00995:48:23YTGFLT4:3:1376:7221:11355,LH00995:48:23YTGFLT4:4:2371:14502:3396,LH00995:48:23YTGFLT4:1:1302:9308:1154,LH00995:48:23YTGFLT4:4:2201:23951:5974,LH00995:48:23YTGFLT4:2:1327:5037:23994

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

153

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(4)

GATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG___GGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGTACCAGCAGGTGTG

SDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIHVPAG

LH00995:48:23YTGFLT4:1:1261:27260:3018,LH00995:48:23YTGFLT4:1:2109:34881:14564,LH00995:48:23YTGFLT4:1:2194:37413:19174,LH00995:48:23YTGFLT4:1:2194:37421:19188,LH00995:48:23YTGFLT4:2:1214:24542:8679,LH00995:48:23YTGFLT4:2:1150:27996:3340,LH00995:48:23YTGFLT4:2:1337:43230:1476,LH00995:48:23YTGFLT4:3:1220:3629:28422,LH00995:48:23YTGFLT4:2:1327:5037:23994

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

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

GGCCCTTTGGACCATGAACCTCCAGAGGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG___GGCACTTCAAAC

ALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:1:1287:47315:4489,LH00995:48:23YTGFLT4:3:1364:24599:6339,LH00995:48:23YTGFLT4:2:1327:5037:23994

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48645033

CDS/splice-site

deletion/read-through

153

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(80%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

GAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|GGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGTACCAGCAGGTGTGACACTACAGACTGTATCTG___GTCACCTTTATAAAGTCAATGTACCAATT...AGACTTCTGGAAGAGCAGGTATTCTTCAGCATCCAATTCAGCAAGTATTTCAACAGCTTGGCCAGCCTTCAGTAATACAAACTAGTGTTCCACAATTGAATCCATGGTCTCTTCAAGCAACTACTGAAAAATCACAGAGAATTGAAACCGT

KHVQQRACYNIQ|GTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVP

LH00995:48:23YTGFLT4:2:1309:42000:27063

LY75

CD302

-/-

chr2:159808449

chr2:159783469

CDS/splice-site

deletion/read-through

387

5317

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(94%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000429078.6

upstream

downstream

duplicates(2)

GATCACTCTGCAACTATCGTTTCCATAAAAGATGAAGATGAGAATAAATTTGTGAGCAGACTGATGAGGGAAAATAATAACATTACCATGAGAGTTTGGCTTGGATTATCTCAACATTCTGTTG|ACTGTCCTTCATCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATG___GAGCGGACATGATAAGCATACATAATGAAGAAGAAAATGCTTTTATACTGGATACTTTGAAAAAGCAATGGAAAGGCCCAGATGATATCCTACTAGGCATGTTTT

DHSATIVSIKDEDENKFVSRLMRENNNITMRVWLGLSQHSV|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDHGADMISIHNEEENAFILDTLKKQWKGPDDILLGMF

LH00995:48:23YTGFLT4:1:1232:8863:17619,LH00995:48:23YTGFLT4:3:1298:50042:12266,LH00995:48:23YTGFLT4:3:2478:7982:1238,LH00995:48:23YTGFLT4:4:2379:30075:24989,LH00995:48:23YTGFLT4:5:1216:25529:4783,LH00995:48:23YTGFLT4:5:1216:25545:4783,LH00995:48:23YTGFLT4:3:2491:28999:16203,LH00995:48:23YTGFLT4:4:2216:45236:10444

LY75

CD302

-/-

chr2:159806973

chr2:159783469

CDS/splice-site

deletion/read-through

620

5317

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000429078.6

upstream

downstream

duplicates(4),read_through(3)

GTAAGAGTGGTGTTGGAAGATGTAGCATGTTGATAGCTTCAAATGAAACTTGGAAAAAAGTTGAATGTGAACATGGTTTTGGAAGAGTTGTCTGCAAAGTGCCTCTGG|ACTGTCCTTCATCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATG___GAGCGGACATGATAAGCATACATAATGAAGAAGAAAATGCTTTTATACTGGATACTTTGAAAAAGCAATGGAAAGGCCCAGATGATATCC

KSGVGRCSMLIASNETWKKVECEHGFGRVVCKVPL|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDHGADMISIHNEEENAFILDTLKKQWKGPDDI

LH00995:48:23YTGFLT4:1:1180:32195:16385,LH00995:48:23YTGFLT4:2:1458:4463:2794,LH00995:48:23YTGFLT4:3:1353:19688:6605,LH00995:48:23YTGFLT4:3:1353:19696:6619,LH00995:48:23YTGFLT4:4:2193:10279:10879,LH00995:48:23YTGFLT4:3:1417:33595:23097,LH00995:48:23YTGFLT4:3:1417:33603:23111

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

664

1363

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

GGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCC

GRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpi

LH00995:48:23YTGFLT4:1:2244:19696:5582,LH00995:48:23YTGFLT4:2:2255:8208:8300,LH00995:48:23YTGFLT4:2:1432:48472:17198,LH00995:48:23YTGFLT4:3:1454:35326:14101,LH00995:48:23YTGFLT4:4:1384:30423:24443

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

876

3217

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(1)

GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAG

DLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQRE

LH00995:48:23YTGFLT4:1:1248:1655:3284,LH00995:48:23YTGFLT4:1:1496:41895:28002,LH00995:48:23YTGFLT4:2:2224:42930:21276,LH00995:48:23YTGFLT4:3:2197:51045:11369,LH00995:48:23YTGFLT4:4:2197:14939:26713,LH00995:48:23YTGFLT4:4:2256:44904:7207

SLC17A2

-/-

chr6:25916685

chr6:25923906

CDS/splice-site

duplication/non-canonical_splicing

517

1027

low

out-of-frame

Major_Facilitator_Superfamily(70%)|Major_Facilitator_Superfamily(100%)

ENSG00000112337.11

ENST00000377850.8

upstream

downstream

duplicates(3)

GGGAAAAGGAGCACATCCTGTCCTCACTGGCTCAACAG___CCCAGTTCTCCTGGACGAGCTGTCCCCATAAAGGCGATGGTCACATGCCTACCACTTTGGGCCATTTTCCTGGGTTTTTTCAGCCATTTCTGGTTGTGCACCATCATCCTAACATACCTACCAACGTATATCAGTACTCTGCTCCATGTTAACATCAGAGAT|GTCCAGATTTCTGTTCATTACGCTATGGGCTGGCTCTTATCATGCACTTCTCAAACTTCACCATGATAACGCAGCGTGTGAGTCTGAGCATTGCGATCATCGCCATGGTGAACACCACTCAGCAGCAAGGTCTATC

EKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRD|vqisvhyamgwllsctsqtsp*

LH00995:48:23YTGFLT4:2:1234:9875:4349,LH00995:48:23YTGFLT4:3:1388:50300:29053,LH00995:48:23YTGFLT4:4:1182:27042:2780,LH00995:48:23YTGFLT4:5:1193:18321:16343,LH00995:48:23YTGFLT4:5:1269:25448:15825,LH00995:48:23YTGFLT4:3:2187:46903:28828,LH00995:48:23YTGFLT4:3:2331:8338:23181,LH00995:48:23YTGFLT4:4:1336:24461:3270

CYP27C1

-/-

chr2:127193094

chr2:127206090

CDS/splice-site

duplication/non-canonical_splicing

640

592

low

in-frame

Cytochrome_P450(93%)|Cytochrome_P450(94%)

ENSG00000186684.14

ENST00000664447.2

upstream

downstream

duplicates(1)

GGGTATCTGATTCCGAAAGGC___ACCCAGCTGGCCCTTTGCCACTATGCCACATCGTACCAGGATGAGAACTTCCCTCGGGCCAAGGAGTTCCGGCCTGAGCGCTGGCTGCGGAAAGGAGACTTAGATAGAGTTGACAATTTTGGATCCATCCCCTTTGGTCATGGGGTTCGCAGCTGCATAGGGCGGAGAATTGCAGAACTGGAGATTCACCTCGTCGTGATCCAG|CAGAAGCACACACGGGAATATGGAAAAATCTTCAAGTCTCACTTTGGTCCTCAGTTTGTAGTATCTATTGCAGACCGCGATATGGTGGCTCAGGTGCTCCGGGCGGAGGGCGCTGCGCCCCAGAGAGCCAACATGGAGTCCTGGCGGGAGTACCGAGACTTGCGGGGGAGAGCCACC

GYLIPKGTQLALCHYATSYQDENFPRAKEFRPERWLRKGDLDRVDNFGSIPFGHGVRSCIGRRIAELEIHLVVIQ|QKHTREYGKIFKSHFGPQFVVSIADRDMVAQVLRAEGAAPQRANMESWREYRDLRGRA

LH00995:48:23YTGFLT4:4:2306:19906:16960,LH00995:48:23YTGFLT4:1:2169:48415:24499,LH00995:48:23YTGFLT4:4:2347:44136:18375,LH00995:48:23YTGFLT4:4:2347:44144:18389,LH00995:48:23YTGFLT4:4:2348:50211:2639,LH00995:48:23YTGFLT4:5:1229:16444:14746

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

GGGATGCTCTACATGGACCATTATCACATCAACCCTGTGCTTGTCAGCTTTTGCCACATCCTGATCACAAATCACAGGGAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGCGGGCTGCAGAGCGTTCTG

LH00995:48:23YTGFLT4:1:1380:15764:22004,LH00995:48:23YTGFLT4:1:1427:24946:9884,LH00995:48:23YTGFLT4:3:1232:43359:12770,LH00995:48:23YTGFLT4:3:2387:32284:25059

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

GTCCAAACCAGGGCCTGGAAATGCTGCAAGGGCTGGGCATTGGGAT|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGCGGGCTGCAGAGC

LH00995:48:23YTGFLT4:2:2180:22196:18964,LH00995:48:23YTGFLT4:3:2492:27131:3326

DAPK1

MAP4K4

+/+

chr9:87564617

chr2:101842657

intron

CDS

translocation

6612

low

Protein_kinase_domain(3%)|CNH_domain(100%)

ENSG00000196730.13

ENSG00000071054.16

ENST00000350878.8

downstream

upstream

duplicates(1),multimappers(1)

GGGGGAGAGAGAGAGAGAGAGGAGGAAG|TGCCTGAACAGGAAGGAGAGCCAAG___TTCCATTGTGAACGTGCCTGGTGAGTCTACTCTTCGCCGAGATTTCCTGAGACTGCAGCAGGAGAACAAGGAACGTTCCGAGGCTCTTCGGAGACAACAGTTACTACAGGAGCA

LH00995:48:23YTGFLT4:1:2335:10287:1729,LH00995:48:23YTGFLT4:2:1241:2715:15433,LH00995:48:23YTGFLT4:2:1244:2214:4727,LH00995:48:23YTGFLT4:2:1417:48836:20183,LH00995:48:23YTGFLT4:3:2380:10481:11089,LH00995:48:23YTGFLT4:5:1141:44548:24583

ANKUB1

DTX2P1

-/-

+/+

chr3:149766815

chr7:76984988

3'UTR

intron

translocation

124

low

Ankyrin_repeats_(many_copies)(100%),Ubiquitin_family(100%)|

ENSG00000206199.11

ENSG00000186704.9

ENST00000462519.3

upstream

duplicates(6),low_entropy(3),mismappers(1),mismatches(14)

GCgGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTTT|GCCCTTGCCTCTAAAAGAACTCACTTCCTCTTCCTCCTGCTGCCACCTGTCTTTTGGCTTGTGGGATTGGAGTCATGGGGCCCAGATGGAGCCTTGCTCCTGACTTATGATAGGCCCTCGGTCTCTTTTCTTCTCTATTTTTTTCTTCTTTCTTTTCTTTTTCTTTGTTTTTTGTTTTGTTTTGTTTTAAGAGACAGGGTCTCACTCTGTCACCCAGGCTAGAGTGAAGTGGTGTGATCGTGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGGGATCCTCCTGCC

LH00995:48:23YTGFLT4:1:2342:3419:5022,LH00995:48:23YTGFLT4:1:2380:42979:27105,LH00995:48:23YTGFLT4:2:1216:29210:28590,LH00995:48:23YTGFLT4:2:1413:46539:5610,LH00995:48:23YTGFLT4:2:2293:20909:7488,LH00995:48:23YTGFLT4:2:2354:17657:12280,LH00995:48:23YTGFLT4:3:1160:51951:16526,LH00995:48:23YTGFLT4:3:1372:34751:19524,LH00995:48:23YTGFLT4:3:2341:31823:29669,LH00995:48:23YTGFLT4:4:1283:13669:21990,LH00995:48:23YTGFLT4:5:1243:1275:21486,LH00995:48:23YTGFLT4:1:1138:14203:3971,LH00995:48:23YTGFLT4:1:1311:5749:5358,LH00995:48:23YTGFLT4:1:1311:5765:5358,LH00995:48:23YTGFLT4:2:2417:41709:23924,LH00995:48:23YTGFLT4:2:2484:47776:2625,LH00995:48:23YTGFLT4:3:1178:46466:20701,LH00995:48:23YTGFLT4:3:1284:7464:18305,LH00995:48:23YTGFLT4:3:1284:7472:18291,LH00995:48:23YTGFLT4:3:2288:39411:10024,LH00995:48:23YTGFLT4:3:2288:39419:10038,LH00995:48:23YTGFLT4:3:2288:39444:10024,LH00995:48:23YTGFLT4:3:2327:4867:11341,LH00995:48:23YTGFLT4:4:1113:40859:19370,LH00995:48:23YTGFLT4:4:1211:13491:24316,LH00995:48:23YTGFLT4:4:1211:13507:24316,LH00995:48:23YTGFLT4:4:2168:50891:27133

BCAS2P1

MAST2

+/-

chr11:83132996

chr1:45804072

intron

CDS

translocation

625

low

ENSG00000255051.1

ENSG00000086015.22

upstream

downstream

mismappers(1)

CGGCCGGGCAGAGGCTGCAATCTCGGCAcTTtGGGAGGCCAAGGCAGGCGG|CTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCaGC

LH00995:48:23YTGFLT4:1:2143:22819:29151,LH00995:48:23YTGFLT4:3:2413:6113:5848,LH00995:48:23YTGFLT4:4:1253:16411:24387,LH00995:48:23YTGFLT4:4:2358:19599:6535

ARL17B

KANSL1

-/-

chr17:46352820

chr17:46094701

CDS/splice-site

deletion/read-through

1833

1452

low

out-of-frame

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

ENSG00000228696.10

ENSG00000120071.15

ENST00000570618.5

ENST00000638269.1

upstream

downstream

duplicates(1)

GTTTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAAACAGATACGTGCTAATAAGGT

FCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTK|gdagqngnglqtgqllsaagtgfrlmfltwniefvskqtftnryvlir

LH00995:48:23YTGFLT4:4:2487:25181:23518,LH00995:48:23YTGFLT4:2:2354:6695:11313,LH00995:48:23YTGFLT4:2:2457:33789:14886,LH00995:48:23YTGFLT4:4:2356:28975:2794

ARL17B

KANSL1

-/-

chr17:46339509

chr17:46094701

CDS/splice-site

deletion/read-through

1853

1452

low

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

ENSG00000228696.10

ENSG00000120071.15

ENST00000572991.5

ENST00000574590.6

upstream

downstream

duplicates(1)

CCAGCCTGGGGACCGTGGGGCTGCAAGGACCTCAGCAGCGGTTTCCCAAGTTTCCTGACTTCTTCCATCCTCTGGAAATCAGCTGTG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGC

LH00995:48:23YTGFLT4:2:1171:16816:24050,LH00995:48:23YTGFLT4:2:1171:16824:24064,LH00995:48:23YTGFLT4:4:2215:44864:25578

ARL17B

KANSL1

-/-

chr17:46337272

chr17:46172232

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

538

765

low

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

ENSG00000228696.10

ENSG00000120071.15

ENST00000572991.5

ENST00000574590.6

upstream

downstream

duplicates(1),mismatches(1)

AGCATCCCCTCCgTGGCAGAAATCTGAAAATGCCCCTGGGGAGACACATGCACAAGAC|g|TCTGTTCTCTGGGGAGGCAGTAAGGGGCCGTGGAGCTGGCCTCGGCCTCGGCATCGGGAGAGGCTGGACTTCCTGTCTCTCTGTGCTGAATGGCTGCGATGGCGCCCGCTCTCACTGACGCAGCAGCTGAAGC

LH00995:48:23YTGFLT4:3:1463:29364:29613,LH00995:48:23YTGFLT4:4:2458:9422:15559

ARHGEF10

+/+

chr8:1909470

chr8:1843353

CDS/splice-site

duplication/non-canonical_splicing

302

798

low

in-frame

PH_domain(74%),RhoGEF_domain(100%)|PH_domain(100%),RhoGEF_domain(100%),WD40_repeated_domain(100%)

ENSG00000104728.16

ENST00000349830.8

ENST00000518288.5

downstream

upstream

duplicates(3)

CGAGCACAGCAGGCACCTTGCCGTTCACCCGCCGGAGAGCCTGGCCGTGGTTGCTAACGCGAAACCAA|GAGCTCCTTCCCTTAACAGAGCTGAGAGAGGCATCTGGAGCTGCAGCATGGACCAGCGAGAGCCCCTGCCTCCCGCTCCTGCAG___AAAATGAAATGAAATATGATACCAATAATAATGAAGAGGAA?AGGGAGAACAGTTCGATTTTGACAGTGGAGATGAAATCCCAGAAGCGGACAGACAGGCCCCATCCGC

EHSRHLAVHPPESLAVVANAKP|rAPSLNRAERGIWSCSMDQREPLPPAPAENEMKYDTNNNEEE?GEQFDFDSGDEIPEADRQAPS

LH00995:48:23YTGFLT4:1:1241:50940:9365,LH00995:48:23YTGFLT4:2:1144:50147:5190,LH00995:48:23YTGFLT4:2:1144:50163:5190,LH00995:48:23YTGFLT4:3:2130:8370:16512,LH00995:48:23YTGFLT4:4:1207:10546:6353,LH00995:48:23YTGFLT4:4:1221:22447:10963

PJA2

AC008467.1

-/-

chr5:109344190

chr5:109308750

CDS/splice-site

intron

deletion/read-through

2462

low

out-of-frame

Ring_finger_domain(80%)|

ENSG00000198961.10

ENSG00000249476.2

ENST00000361189.7

upstream

downstream

duplicates(3)

CTTACCTACATGGCACTAGAAGAACGCTTAGCCCAGGCTATGGAG___ACTGCTCTGGCCCATTTAGAGTCTCTTGCAGTGGATGTTGAGGTGGCCAATCCACCAGCTAGTAAGGAAAGCATTGATGGTCTTCCAGAGACCCTTGTTCTTGAAGATCACACTG___CTATTGGTCAGGAACAATGCTGTCCAATCTGTTGCAGTGAGTATATTAAGGATGATATAGCAACAGAGTTGCCCTGTCACCATTTCTTTCACAAACCTTGTGTCTCAATTTGGCTACAAAAG|CACGGAGCTCTGGACACTGCATGGAGTACCTACTTGCTGTGTAGTGAAGAGCCCTACCCCACCTGGCACTGGCCCACCATCCGCTCTTCCCTACCACCTTCCCAGCTTCCTCATATGGATGATATGCAGTTGCCTGTGACTCAGTTTGA

LTYMALEERLAQAMETALAHLESLAVDVEVANPPASKESIDGLPETLVLEDHTAIGQEQCCPICCSEYIKDDIATELPCHHFFHKPCVSIWLQK|hgaldtawstyllcseepyptwhwptirsslppsqlphmddmqlpvtqf

LH00995:48:23YTGFLT4:3:2212:30884:28688,LH00995:48:23YTGFLT4:2:2342:14777:15587,LH00995:48:23YTGFLT4:2:2342:14785:15601,LH00995:48:23YTGFLT4:2:2342:14793:15587,LH00995:48:23YTGFLT4:4:1346:7464:2611,LH00995:48:23YTGFLT4:4:1346:7480:2611

NLRP12

-/-

chr19:53805280

chr19:53814988

CDS/splice-site

duplication/non-canonical_splicing

113

low

out-of-frame

Fish-specific_NACHT_associated_domain(100%),Leucine_Rich_repeat(20%),NACHT_domain(100%),NLRC4_helical_domain_HD2(100%),NOD2_winged_helix_domain(100%),PAAD/DAPIN/Pyrin_domain(100%)|Fish-specific_NACHT_associated_domain(100%),Leucine_Rich_repeat(100%),NACHT_domain(100%),NLRC4_helical_domain_HD2(100%),NOD2_winged_helix_domain(100%)

ENSG00000142405.22

ENST00000345770.9

upstream

downstream

CAACGGCGTTGGATTCCCAGGCATGATGCTGCTTTGCGAGGGCCTGCGGCATCCCCAaTGCAGGCTGCAGATGATTCA|ATACCCCACCTGGTGGCCCGTCCTCACTTGGGAACCAGTCAACATGCCTTCTGGAAGTCTCTCTTGTCACTCCAAGAAAAG___ATCCCCAGGAAACCTACAGGGACTATGTCCGCAGGAAATTCCGGCTCATGGAAGACCGCAATGCGCGCCTAGGGGAATGTGTCAACCTCAGCCACCGGTACACCC

NGVGFPGMMLLCEGLRHPQCRLQMIq|yptwwpvltwepvnmpsgslschskkrspgnlqglcpqeipahgrpqcaprgmcqpqppvh

LH00995:48:23YTGFLT4:4:2112:13119:4279,LH00995:48:23YTGFLT4:1:1148:6347:13205,LH00995:48:23YTGFLT4:2:2151:25294:15110

MTDH

LAPTM4B

+/+

chr8:97644887

chr8:97805353

CDS/splice-site

deletion/read-through

4405

3707

low

in-frame

Lysine-rich_CEACAM1_co-isolated_protein_family(29%)|Golgi_4-transmembrane_spanning_transporter(100%)

ENSG00000147649.10

ENSG00000104341.17

ENST00000336273.8

ENST00000445593.6

downstream

upstream

AATCTCCGGAGCGAGGAACAGAAGAAGAAGAACCGGAAGAAACTGTCCGAGAAGCCCAAA|ATCATCAATGCTGTGGTACTGTTGATTTTATTGAGTGCCCTGGCTGATCCGGATCAGTATAACTTTTCAAGTTCTGAACTGGGAGGTGACTTTGAGTTCATGGATGATGCCA___ACATGTGCATTGCCATTGCGATTTCTCTTCTCATGATCCTGATATGTGCTATGGCTACTTACGGAGCGTACAAG___CAACGCGCAGCCTGGATCATCCCATTCTTCTGTTACCAGATCTTTGACTTTGCCCTGAACATGTTGGTTGCAATCACTGTGCTTATTTATCCAAACTCCATTCAGGAATACATACGGCAACTG___CCTCCTAATTTTCCCTACAGAGATGATGTCATGTCAGT

NLRSEEQKKKNRKKLSEKPK|IINAVVLLILLSALADPDQYNFSSSELGGDFEFMDDANMCIAIAISLLMILICAMATYGAYKQRAAWIIPFFCYQIFDFALNMLVAITVLIYPNSIQEYIRQLPPNFPYRDDVMS

LH00995:48:23YTGFLT4:2:2193:3241:14494,LH00995:48:23YTGFLT4:3:1327:39282:17198,LH00995:48:23YTGFLT4:4:2166:39088:28604

TUBAP12

TUBAP2

-/-

+/+

chr15:96388333

chr11:90283775

exon

translocation

1336

low

ENSG00000259614.2

ENSG00000214391.3

ENST00000559595.2

ENST00000530835.1

upstream

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

GGTGGAGACCTGGCCAAGGTACAGAGAGCTGTG|CATGCTGAGCAACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGCCAAGCGTGCCTTTGTTCACTGGTACGTGGGTGAGGGGATGGAGGAAGGCGAGTTTTCA

LH00995:48:23YTGFLT4:1:2175:40366:2093,LH00995:48:23YTGFLT4:2:2114:10433:5008,LH00995:48:23YTGFLT4:3:2488:10522:27161,LH00995:48:23YTGFLT4:4:2390:21961:13737,LH00995:48:23YTGFLT4:5:1133:20117:5862,LH00995:48:23YTGFLT4:5:1370:28805:5554

HIC2

PI4KA

+/+

-/-

chr22:21442857

chr22:20735674

CDS/splice-site

intron

inversion

1502

low

out-of-frame

|Phosphatidylinositol_3-_and_4-kinase(100%),Phosphoinositide_3-kinase_family__accessory_domain_(PIK_domain)(100%)

ENSG00000169635.10

ENSG00000241973.11

ENST00000407464.7

downstream

duplicates(2)

GGCGGGCGCGTGCGGCGCGAGCCGGGCGCTGAGGACAAGGGCCGCTGGTAGGGCCGGCCGGCCGGCGGGCGGAGCGCCGCCGCCGACGCACACGAG___GTGACCAGGCATTGATGCACCCCCAGGAAGGCCACGCGCTCAGGAGgCCCCCCCcCCGCTGGCTGCTGCTCACATGGTGTCTGGGCCCTTGGCACTCCG|CCTCCAGATGGCTTCTGTGCCTCCCAGCAGGAAGGAAGACAAGGAC

MVSGPLALr|lqmasvppsrkedk

LH00995:48:23YTGFLT4:5:1237:31087:11747,LH00995:48:23YTGFLT4:5:1237:31095:11761,LH00995:48:23YTGFLT4:3:1498:2278:25970,LH00995:48:23YTGFLT4:3:1498:2286:25984

NR3C1

ARHGAP26

-/-

+/+

chr5:143399656

chr5:142913199

CDS/splice-site

inversion

3346

541

low

out-of-frame

Glucocorticoid_receptor(98%)|PH_domain(54%),RhoGAP_domain(100%),Variant_SH3_domain(100%)

ENSG00000113580.15

ENSG00000145819.18

ENST00000343796.6

ENST00000274498.9

upstream

CTTGACTTCTCTGGGGACTCTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAG|GGAGAAGATGAATCAGTTATCCTCAAATCCTGCACACGGCGGAAAACAGACTCCATTGAGAAGAGGTTTTGCTTTGATGTGGAAGCAGTAGACAGG

LTSLGTLNFPGRTVFSNGYSr|ekmnqlssnpahggkqtplrrgfalmwkq*

LH00995:48:23YTGFLT4:4:1136:13086:5204

ARHGAP26

NR3C1

+/+

-/-

chr5:142932125

chr5:143300763

CDS/splice-site

inversion

2840

3826

low

out-of-frame

BAR_domain_of_APPL_family(100%),PH_domain(100%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%)

ENSG00000145819.18

ENSG00000113580.15

ENST00000274498.9

ENST00000343796.6

downstream

TCAAATCCTGCACACGGCGGAAAACAGACTCCATTGAGAAGAGGTTTTGCTTTGATGTGGAAGCAGTAGACAG___GCCAGGGGTTATCACCATGCAAGCTTTGTCGGAAGAGGACCGGAGGCTCTGGATGGAAGCCATGGATGGCCGGGAACCT|CTCGAAAAACAAAGAAAAAAATAAAAGGAATTCAGCAGGCCACTACAGGAGTCTCACAAGAAACCTCTGAAAATCCTGGTAACAAAAC

KSCTRRKTDSIEKRFCFDVEAVDRPGVITMQALSEEDRRLWMEAMDGREP|lekqrkk*

LH00995:48:23YTGFLT4:1:2414:15416:25746

ARHGAP26

NR3C1

+/+

-/-

chr5:142966252

chr5:143314168

intron

CDS/splice-site

inversion

3431

low

stop-codon

BAR_domain_of_APPL_family(100%),PH_domain(100%)|Glucocorticoid_receptor(1%),Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)

ENSG00000145819.18

ENSG00000113580.15

ENST00000274498.9

ENST00000343796.6

downstream

GGAGGCTCTGGATGGAAGCCATGGATGGCCGGGAACCT___GTCTCAGCTGAGGAGTCACACATAGGAAAACTCTCCTAATCGCATTTATAACGTACTGTAGGAGAGGGCATGCACACCTACACAGgCAGCTCTCAG|CCCCAGCATGAGACCAGATGTAAGCTCTCCTCCATCCAGCTCCTCAACAGCAACAACAGGACCACCTCCCAAACTCTGCCTGGTGTGCTCTGATGAAGCTTCAGGATGTCATTATGGAGTCTTAACTTGTGGAAGCTGTAAAGTTTTCTTCAAAAGAGCAGTGG

LH00995:48:23YTGFLT4:3:1380:47744:19188

TPRG1

LPP

+/+

chr3:189207594

chr3:188406112

CDS/splice-site

5'UTR/splice-site

duplication

112

8205

low

in-frame

Inositol_phosphatase_(4%)|LIM_domain(100%)

ENSG00000188001.10

ENSG00000145012.13

ENST00000433971.5

ENST00000640853.1

downstream

upstream

GATGGAGGAAGAGGACCCGATGCCAAGACAGATTTCAAGGCAGTCAAGTGTGACCGAATCAACTCTTTACCCCAATCCTT---ATCAGCCTTATATCTCACGGAAGTACTTTGCTACACGG|ATTCCAACAATGTCTCACCCATCTTGGCTGCCACCCAAAAG

MEEEDPMPRQISRQSSVTESTLYPNPyQPYISRKYFATR|iptMSHPSWLPPK

LH00995:48:23YTGFLT4:2:2290:24170:21178

TPRG1

LPP

+/+

chr3:189132697

chr3:188524665

5'UTR/splice-site

CDS/splice-site

duplication

6189

low

|LIM_domain(100%)

ENSG00000188001.10

ENSG00000145012.13

ENST00000433971.5

ENST00000618621.4

downstream

upstream

CAGATTGGAGATACTGGCCATTTTATAGACTTCAAAGCAACTTAGGCCACTGAACTGTCAGGCGGGAAAACAG|GGGAATCCCGGAGGCAAGACACTTGAGGAGAGGCGCTCCAGCCTGGACGCTGAGATTGACTCCTTGACCAGCATCTTGGCTGACCTTGAGTGCAGCTCCCCCTATAAGCCTCGGCCTCCACAGGTTAGTGCAGCCCACAATCATCTCCACACAGCCATTCCCAGATATTCTACTCTTATCAGAAAGAACATGCT

LH00995:48:23YTGFLT4:3:2412:11218:26572

FBRSL1

NOC4L

+/+

chr12:132527988

chr12:132151258

CDS/splice-site

duplication

1889

1273

low

out-of-frame

|CBF/Mak21_family(88%)

ENSG00000112787.14

ENSG00000184967.7

ENST00000434748.2

ENST00000330579.6

downstream

upstream

GAAAGGTCCCACTGCAGCCCTCCAAGCAG___ATGAAGGTCACCGTGTCCAAAGGGGGCGACCGGGACAGTGACGACGACAGCGTCCTCGAAGCCACCAGCTCCCGGGACCCGCTCAGCGAT___AGCTCTGCGCATGCGGTCTCGGGGAGAGGCTACTCT|GGAGTACCCTGACTTCT

KVPLQPSKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYS|gvp*

LH00995:48:23YTGFLT4:1:1198:49475:4587

FBRSL1

NOC4L

+/+

chr12:132525823

chr12:132151258

CDS/splice-site

duplication

2295

1273

low

out-of-frame

|CBF/Mak21_family(88%)

ENSG00000112787.14

ENSG00000184967.7

ENST00000434748.2

ENST00000330579.6

downstream

upstream

CAGATGAAGGTCACCGTGTCCAAAGGGGGCGACCGGGACAGTGACGACGACAGCGTCCTCGAAGCCACCAGCTCCCGGGACCCGCTCAGtGAT|GGAGTACCCTGACTTCTACCGGAAGCTCTACGGCCTCTTGGACCCCTCTGTCTTTCACGTCAAGTACCGCGC

qMKVTVSKGGDRDSDDDSVLEATSSRDPLSD|gvp*

LH00995:48:23YTGFLT4:4:1132:31483:2485

275 rows