rna_s1221_S42.arriba.fusions.filtered.tsv

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Filename: rna_s1221_S42.arriba.fusions.filtered.tsv
Full Path: s3://natera-platform-sandbox/users/smarinkovic/rnapipeline_exon_skipping_vcf_bgzip_test/arriba/rna_s1221_S42.arriba.fusions.filtered.tsv
Size: 41.6 KB
Workflow Run: rnapipeline_exon_skipping_vcf_bgzip_test
Published: Jun 08, 2026 8:57 AM

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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

breakpoint_ID

vaf1

vaf2

vaf_avg

total_reads

blacklisted

aih_curated_reason

FILTER

filter_reason

FGFR3

TACC3

+/+

chr4:1806934

chr4:1739702

CDS/splice-site

duplication

162

high

in-frame

Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%)

ENSG00000068078.20

ENSG00000013810.20

ENST00000412135.7

ENST00000651472.1

downstream

upstream

duplicates(10)

CAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAA

KLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKE

LH00166:156:2373MLLT3:1:1172:1619:13834,LH00166:156:2373MLLT3:1:2228:45344:9876,LH00166:156:2373MLLT3:1:2274:29265:21076,LH00166:156:2373MLLT3:2:1175:14185:7537,LH00166:156:2373MLLT3:2:1184:19973:28558,LH00166:156:2373MLLT3:3:1177:27028:5150,LH00166:156:2373MLLT3:4:1112:29497:22117,LH00166:156:2373MLLT3:4:1287:21120:18368,LH00166:156:2373MLLT3:4:2227:24504:18753,LH00166:156:2373MLLT3:4:2279:36810:6976,LH00166:156:2373MLLT3:5:1207:19779:2682,LH00166:156:2373MLLT3:5:1296:20029:29455,LH00166:156:2373MLLT3:5:2161:11873:7633,LH00166:156:2373MLLT3:5:2189:3367:11607,LH00166:156:2373MLLT3:5:2214:8739:9251,LH00166:156:2373MLLT3:6:2101:44133:11591,LH00166:156:2373MLLT3:7:1149:9543:16926,LH00166:156:2373MLLT3:7:1159:18531:3564,LH00166:156:2373MLLT3:8:1176:29876:27292,LH00166:156:2373MLLT3:8:1218:50337:7120,LH00166:156:2373MLLT3:8:2134:13159:6335,LH00166:156:2373MLLT3:8:2155:7990:17182,LH00166:156:2373MLLT3:8:2267:10385:24825,LH00166:156:2373MLLT3:1:1239:20019:22518,LH00166:156:2373MLLT3:2:1161:39871:12600,LH00166:156:2373MLLT3:2:1172:44642:19842,LH00166:156:2373MLLT3:2:1205:37855:29263,LH00166:156:2373MLLT3:2:1205:37864:29279,LH00166:156:2373MLLT3:3:1217:21415:3628,LH00166:156:2373MLLT3:3:1219:42108:14010,LH00166:156:2373MLLT3:4:1114:11402:3804,LH00166:156:2373MLLT3:4:1127:16016:27341,LH00166:156:2373MLLT3:4:1212:44124:19426,LH00166:156:2373MLLT3:4:2146:26334:11959,LH00166:156:2373MLLT3:6:2117:32899:4525,LH00166:156:2373MLLT3:6:2138:23477:4669,LH00166:156:2373MLLT3:6:2236:33112:19025,LH00166:156:2373MLLT3:6:2252:17625:29231,LH00166:156:2373MLLT3:7:1152:5974:19361,LH00166:156:2373MLLT3:7:1202:38928:29199,LH00166:156:2373MLLT3:7:1271:31975:24360,LH00166:156:2373MLLT3:7:2112:35183:3515,LH00166:156:2373MLLT3:7:2183:24208:2378,LH00166:156:2373MLLT3:8:2164:23357:14074,LH00166:156:2373MLLT3:8:2236:27509:5598,LH00166:156:2373MLLT3:8:2241:13704:8627,LH00166:156:2373MLLT3:4:2211:8693:12119,LH00166:156:2373MLLT3:5:1107:36440:9444,LH00166:156:2373MLLT3:7:1253:32890:15724

chr4:1806934-chr4:1739702

0.19402985074626866

0.10743801652892562

0.15073393363759713

False

PASS

KIF5B

RET

-/-

+/+

chr10:32017143

chr10:43114480

CDS/splice-site

inversion

208

high

in-frame

Kinesin_motor_domain(100%)|Protein_kinase_domain(100%)

ENSG00000170759.11

ENSG00000165731.20

ENST00000302418.5

ENST00000355710.8

upstream

duplicates(4),mismatches(1)

CGTGATCGCAAACGCTATCAGCAAGAAGTAGATCGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATTG|ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACC

RDRKRYQQEVDRIKEAVRSKNMARRGHSAQI|dPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKP

LH00166:156:2373MLLT3:6:1227:47952:25642,LH00166:156:2373MLLT3:1:1123:43911:25081,LH00166:156:2373MLLT3:1:1198:5078:13065,LH00166:156:2373MLLT3:1:1235:31041:14603,LH00166:156:2373MLLT3:1:2263:47526:1737,LH00166:156:2373MLLT3:2:1151:25456:6079,LH00166:156:2373MLLT3:2:1241:17819:5630,LH00166:156:2373MLLT3:2:1242:3903:4076,LH00166:156:2373MLLT3:2:1261:2100:19634,LH00166:156:2373MLLT3:2:2285:30939:28879,LH00166:156:2373MLLT3:2:2288:34009:5230,LH00166:156:2373MLLT3:3:1267:9904:24985,LH00166:156:2373MLLT3:3:2101:17976:26027,LH00166:156:2373MLLT3:3:2268:7250:12440,LH00166:156:2373MLLT3:3:2269:17097:11783,LH00166:156:2373MLLT3:3:2279:4282:19826,LH00166:156:2373MLLT3:3:2283:44272:18849,LH00166:156:2373MLLT3:4:1291:51132:25258,LH00166:156:2373MLLT3:4:2144:30486:10950,LH00166:156:2373MLLT3:5:1137:14934:9668,LH00166:156:2373MLLT3:5:1190:13159:25979,LH00166:156:2373MLLT3:5:2211:30856:24088,LH00166:156:2373MLLT3:5:2286:5762:17551,LH00166:156:2373MLLT3:6:1258:7112:2298,LH00166:156:2373MLLT3:6:2273:2368:16862,LH00166:156:2373MLLT3:7:2204:21175:1993,LH00166:156:2373MLLT3:8:2145:46093:10373,LH00166:156:2373MLLT3:8:2211:17662:11863,LH00166:156:2373MLLT3:8:2287:18281:18737,LH00166:156:2373MLLT3:8:2295:19511:20932,LH00166:156:2373MLLT3:6:1139:40758:9300

chr10:32017143-chr10:43114480

0.007159904534606206

0.2648648648648649

0.13601238469973553

False

PASS

FGFR3

BAIAP2L1

+/+

-/-

chr4:1806934

chr7:98362432

CDS/splice-site

translocation

high

in-frame

Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|IRSp53/MIM_homology_domain(99%),Variant_SH3_domain(100%)

ENSG00000068078.20

ENSG00000006453.14

ENST00000412135.7

ENST00000005260.9

downstream

duplicates(3)

AGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTAAACG

EGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKAVN

LH00166:156:2373MLLT3:1:1149:37587:26107,LH00166:156:2373MLLT3:1:1225:4356:24921,LH00166:156:2373MLLT3:1:2112:51151:9684,LH00166:156:2373MLLT3:2:1184:33047:14010,LH00166:156:2373MLLT3:2:1210:25659:12616,LH00166:156:2373MLLT3:2:2267:41063:20307,LH00166:156:2373MLLT3:2:2268:37531:12552,LH00166:156:2373MLLT3:3:1222:41332:29680,LH00166:156:2373MLLT3:3:1288:25641:9988,LH00166:156:2373MLLT3:4:1181:45446:11238,LH00166:156:2373MLLT3:4:1209:9146:23703,LH00166:156:2373MLLT3:4:1247:47268:15292,LH00166:156:2373MLLT3:4:2114:22497:20659,LH00166:156:2373MLLT3:5:1124:19945:1176,LH00166:156:2373MLLT3:5:1228:20925:8482,LH00166:156:2373MLLT3:6:1280:32612:2811,LH00166:156:2373MLLT3:6:2277:14878:9059,LH00166:156:2373MLLT3:6:2281:28221:21765,LH00166:156:2373MLLT3:7:1276:2267:23543,LH00166:156:2373MLLT3:7:2257:31226:15885,LH00166:156:2373MLLT3:8:1201:21443:28094,LH00166:156:2373MLLT3:8:1207:30236:20387,LH00166:156:2373MLLT3:8:1236:46999:11911,LH00166:156:2373MLLT3:8:2173:31577:28927,LH00166:156:2373MLLT3:8:2211:39381:17231,LH00166:156:2373MLLT3:5:2259:17153:27517,LH00166:156:2373MLLT3:6:2230:51049:4957

chr4:1806934-chr7:98362432

0.21359223300970873

0.2

0.20679611650485435

False

PASS

LMNA

NTRK1

+/+

chr1:156130773

chr1:156874906

CDS/splice-site

deletion

311

high

in-frame

Intermediate_filament_protein(39%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(95%)

ENSG00000160789.23

ENSG00000198400.13

ENST00000368301.6

ENST00000392302.7

downstream

upstream

duplicates(6)

GGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGG

GDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRNKF

LH00166:156:2373MLLT3:1:1122:13159:27004,LH00166:156:2373MLLT3:1:2116:43014:11190,LH00166:156:2373MLLT3:1:2160:18096:16269,LH00166:156:2373MLLT3:2:1102:44845:13754,LH00166:156:2373MLLT3:2:2219:47943:3099,LH00166:156:2373MLLT3:3:2121:25114:26059,LH00166:156:2373MLLT3:3:2141:34628:14827,LH00166:156:2373MLLT3:3:2259:49681:28222,LH00166:156:2373MLLT3:3:2278:12484:26283,LH00166:156:2373MLLT3:4:1227:39029:2554,LH00166:156:2373MLLT3:4:2172:36625:11334,LH00166:156:2373MLLT3:6:1285:42219:9428,LH00166:156:2373MLLT3:6:2252:28923:19073,LH00166:156:2373MLLT3:6:2284:5558:27100,LH00166:156:2373MLLT3:7:2219:3478:21092,LH00166:156:2373MLLT3:8:2144:7186:20852,LH00166:156:2373MLLT3:8:2144:7195:20836,LH00166:156:2373MLLT3:8:2145:49403:2554,LH00166:156:2373MLLT3:8:2150:34859:18208,LH00166:156:2373MLLT3:8:2268:40906:25065,LH00166:156:2373MLLT3:8:2285:44993:28815,LH00166:156:2373MLLT3:1:1166:8434:20675,LH00166:156:2373MLLT3:3:1208:11254:7617,LH00166:156:2373MLLT3:3:2212:6603:28013,LH00166:156:2373MLLT3:4:1143:26427:18849,LH00166:156:2373MLLT3:4:2145:39492:2458,LH00166:156:2373MLLT3:5:1240:40074:28174,LH00166:156:2373MLLT3:5:2138:21656:8018,LH00166:156:2373MLLT3:6:1272:42561:11751,LH00166:156:2373MLLT3:8:2170:10819:8306

chr1:156130773-chr1:156874906

0.046012269938650305

0.08823529411764706

0.06712378202814868

False

PASS

ETV6

NTRK3

+/+

-/-

chr12:11869969

chr15:87940753

CDS/splice-site

translocation

146

high

in-frame

Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Protein_kinase_domain(100%)

ENSG00000139083.11

ENSG00000140538.16

ENST00000396373.9

ENST00000394480.6

downstream

duplicates(1)

CGTGGATTTCAAACAGTCCAGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCA

VDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPT

LH00166:156:2373MLLT3:1:2226:17698:7633,LH00166:156:2373MLLT3:2:1229:43680:29520,LH00166:156:2373MLLT3:2:1268:25965:21284,LH00166:156:2373MLLT3:2:2274:12326:27549,LH00166:156:2373MLLT3:3:2101:16469:4925,LH00166:156:2373MLLT3:5:2262:43236:15965,LH00166:156:2373MLLT3:5:2288:18022:7938,LH00166:156:2373MLLT3:5:2289:32890:6111,LH00166:156:2373MLLT3:7:2141:26048:20884,LH00166:156:2373MLLT3:8:1182:47489:3211,LH00166:156:2373MLLT3:8:1263:34351:15372,LH00166:156:2373MLLT3:8:2109:41147:5422,LH00166:156:2373MLLT3:5:1193:25909:4909,LH00166:156:2373MLLT3:7:1257:4375:19602,LH00166:156:2373MLLT3:8:1158:14869:20259

chr12:11869969-chr15:87940753

0.07006369426751592

0.3

0.18503184713375795

False

PASS

EGFR

SEPTIN14

+/+

-/-

chr7:55200413

chr7:55796092

CDS/splice-site

inversion

high

in-frame

Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)|

ENSG00000146648.19

ENSG00000154997.9

ENST00000275493.7

ENST00000388975.4

downstream

duplicates(4)

TGTACCATCGATGTCTACATGATCATGGTCAAGT___GCTGGATGATAGACGCAGATAGTCGCCCAAAGTTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTCATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCCGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAGAAAGACA

CTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQ|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTDTKKD

LH00166:156:2373MLLT3:1:1156:27148:12248,LH00166:156:2373MLLT3:2:1242:6677:20355,LH00166:156:2373MLLT3:2:2184:8628:2170,LH00166:156:2373MLLT3:3:1230:40333:8883,LH00166:156:2373MLLT3:4:1121:26233:7585,LH00166:156:2373MLLT3:4:1151:43458:22310,LH00166:156:2373MLLT3:4:2286:7879:28590,LH00166:156:2373MLLT3:7:2286:25077:17471,LH00166:156:2373MLLT3:8:2256:46685:8322,LH00166:156:2373MLLT3:1:1251:31438:8370,LH00166:156:2373MLLT3:2:1166:5863:7954,LH00166:156:2373MLLT3:2:2128:11088:3868,LH00166:156:2373MLLT3:4:2224:43393:2202,LH00166:156:2373MLLT3:6:1134:14462:9396,LH00166:156:2373MLLT3:8:1186:28332:29552,LH00166:156:2373MLLT3:8:1251:5484:25722,LH00166:156:2373MLLT3:8:2123:24578:7441

chr7:55200413-chr7:55796092

0.35

0.0821917808219178

0.2160958904109589

False

PASS

TFG

NTRK1

+/+

chr3:100732672

chr1:156874571

CDS/splice-site

translocation

248

high

out-of-frame

PB1_domain(100%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%)

ENSG00000114354.15

ENSG00000198400.13

ENST00000675047.1

ENST00000530298.5

downstream

upstream

duplicates(3)

CAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAGTGAATCGTTTATTGGATAGCTTGGAACCACCTGGAGAACCAGGACCTTCCACCAATATTCCTGAAAATG___ATACTGTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTTATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAATGTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACCG...CGGCTGTcCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTG

QVKYLRRELIELRNKVNRLLDSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKNVMSAFGLTDDQVS|dtnstsgdpvekkdetpfgvsvavglavfaclflstlllvlnkcgrrnkfgin

LH00166:156:2373MLLT3:4:1136:30255:10293,LH00166:156:2373MLLT3:5:2249:39482:4044,LH00166:156:2373MLLT3:6:1218:39260:1705,LH00166:156:2373MLLT3:6:1285:20176:2122,LH00166:156:2373MLLT3:6:1285:20186:2106,LH00166:156:2373MLLT3:7:2135:15424:27469,LH00166:156:2373MLLT3:1:1273:9802:19329,LH00166:156:2373MLLT3:3:1204:47721:29343,LH00166:156:2373MLLT3:3:2180:7001:22966,LH00166:156:2373MLLT3:4:2202:35664:22422,LH00166:156:2373MLLT3:5:2264:36172:11607,LH00166:156:2373MLLT3:6:1205:33851:4028,LH00166:156:2373MLLT3:6:2239:44337:15789,LH00166:156:2373MLLT3:7:1155:23644:3644,LH00166:156:2373MLLT3:8:1280:43467:10437

chr3:100732672-chr1:156874571

0.027450980392156862

0.1282051282051282

0.07782805429864253

False

PASS

SLC45A3

BRAF

-/-

chr1:205680394

chr7:140794467

5'UTR/splice-site

CDS/splice-site

translocation

195

high

|Protein_kinase_domain(100%)

ENSG00000158715.6

ENSG00000157764.14

ENST00000367145.4

ENST00000644969.2

upstream

downstream

duplicates(1)

GGCGCGCGTGGGGGGCAAGGAAGGGGGGGCGGAACCAGCCTGCACGCGCTGGCTCCGGGTGACAGCCGCGCGCCTCGGCCAG|GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCC

LH00166:156:2373MLLT3:8:1101:8693:12344,LH00166:156:2373MLLT3:1:1193:28849:22758,LH00166:156:2373MLLT3:2:1129:51253:2778,LH00166:156:2373MLLT3:2:1166:40703:28142,LH00166:156:2373MLLT3:4:2169:37208:4044,LH00166:156:2373MLLT3:5:1152:25345:18480,LH00166:156:2373MLLT3:5:1284:39094:5486,LH00166:156:2373MLLT3:5:2256:34979:8803,LH00166:156:2373MLLT3:8:1191:44817:12552,LH00166:156:2373MLLT3:8:1283:51123:12744,LH00166:156:2373MLLT3:8:2162:4634:23287,LH00166:156:2373MLLT3:8:2170:5152:6592,LH00166:156:2373MLLT3:8:2190:4689:19794

chr1:205680394-chr7:140794467

0.5

0.05339805825242718

0.2766990291262136

False

PASS

PAX8

PPARG

-/-

+/+

chr2:113235394

chr3:12379704

CDS/splice-site

translocation

high

in-frame

'Paired_box'_domain(100%),Paired-box_protein_2_C_terminal(21%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%)

ENSG00000125618.18

ENSG00000132170.23

ENST00000681162.1

ENST00000287820.10

upstream

duplicates(5)

CCAGTTCTAGCTCCACCCCTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAGC

SSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFS

LH00166:156:2373MLLT3:1:1296:50273:6848,LH00166:156:2373MLLT3:3:1229:19677:28110,LH00166:156:2373MLLT3:4:2102:15045:18224,LH00166:156:2373MLLT3:6:1130:51234:25947,LH00166:156:2373MLLT3:6:2190:29654:7970,LH00166:156:2373MLLT3:7:1287:1499:18080,LH00166:156:2373MLLT3:1:1235:18697:19554,LH00166:156:2373MLLT3:2:1291:24328:27132,LH00166:156:2373MLLT3:3:1116:39556:12151,LH00166:156:2373MLLT3:3:2218:47323:6736,LH00166:156:2373MLLT3:4:1281:23671:8947,LH00166:156:2373MLLT3:4:2179:36625:28318,LH00166:156:2373MLLT3:5:1280:35765:29712,LH00166:156:2373MLLT3:5:2178:24430:5678,LH00166:156:2373MLLT3:7:1154:42154:19057,LH00166:156:2373MLLT3:7:2277:48544:13209

chr2:113235394-chr3:12379704

0.2

0.13043478260869565

0.16521739130434782

False

PASS

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

high

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(2)

TGTCCATGGCTTACCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTGAATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGGC

LH00166:156:2373MLLT3:2:1140:11457:3323,LH00166:156:2373MLLT3:2:1168:34249:21188,LH00166:156:2373MLLT3:3:1224:11947:5390,LH00166:156:2373MLLT3:5:1220:10986:11382,LH00166:156:2373MLLT3:5:2217:31115:23191,LH00166:156:2373MLLT3:6:1106:20824:22085,LH00166:156:2373MLLT3:6:1106:20833:22069,LH00166:156:2373MLLT3:7:2247:4606:28174,LH00166:156:2373MLLT3:8:2111:36431:14427,LH00166:156:2373MLLT3:8:2168:50689:8627,LH00166:156:2373MLLT3:7:1271:49709:10133,LH00166:156:2373MLLT3:7:1271:49727:10101,LH00166:156:2373MLLT3:8:2162:12336:5198

chr17:35522279-chr17:35480195

0.07692307692307693

0.14754098360655737

0.11223203026481715

False

PASS

NCOA4

RET

-/-

+/+

chr10:46012883

chr10:43116584

CDS/splice-site

inversion

216

high

in-frame

Nuclear_coactivator(62%)|Protein_kinase_domain(100%)

ENSG00000266412.6

ENSG00000165731.20

ENST00000581486.6

ENST00000355710.8

upstream

duplicates(1)

CTCCATGCCAGAGCAG___AAGTCAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAG

SMPEQKSASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG

LH00166:156:2373MLLT3:1:1114:40703:14715,LH00166:156:2373MLLT3:5:1117:38512:11623,LH00166:156:2373MLLT3:6:2130:33722:26812,LH00166:156:2373MLLT3:1:1102:17134:27357,LH00166:156:2373MLLT3:2:2244:30708:4381,LH00166:156:2373MLLT3:4:1276:32067:12536,LH00166:156:2373MLLT3:5:1177:3247:9380,LH00166:156:2373MLLT3:5:1256:4763:8803,LH00166:156:2373MLLT3:5:2208:3950:25306,LH00166:156:2373MLLT3:6:1293:16663:4012

chr10:46012883-chr10:43116584

0.02702702702702703

0.06521739130434782

0.046122209165687426

False

PASS

TPM3

NTRK1

-/-

+/+

chr1:154170400

chr1:156874571

CDS/splice-site

inversion

692

high

in-frame

Tropomyosin(78%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%)

ENSG00000143549.21

ENSG00000198400.13

ENST00000271850.11

ENST00000392302.7

upstream

duplicates(1),mismatches(3)

CTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGAC

QKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFM

LH00166:156:2373MLLT3:4:2256:27194:19121,LH00166:156:2373MLLT3:7:2277:8684:23928,LH00166:156:2373MLLT3:7:2298:45964:5054,LH00166:156:2373MLLT3:8:1124:49080:9364,LH00166:156:2373MLLT3:1:2292:44910:16814,LH00166:156:2373MLLT3:3:1107:1740:2506,LH00166:156:2373MLLT3:5:2113:25826:21749,LH00166:156:2373MLLT3:5:2182:35701:21460,LH00166:156:2373MLLT3:6:1135:39871:24457,LH00166:156:2373MLLT3:6:2235:50115:1513,LH00166:156:2373MLLT3:7:1248:30319:16558,LH00166:156:2373MLLT3:7:2185:4023:2234,LH00166:156:2373MLLT3:2:1195:9728:29488

chr1:154170400-chr1:156874571

0.006460875807609476

0.11688311688311688

0.061671996345363175

False

PASS

CCDC6

RET

-/-

+/+

chr10:59906122

chr10:43116584

CDS/splice-site

inversion

122

high

in-frame

Uncharacterized_conserved_protein_H4_(DUF2046)(17%)|Protein_kinase_domain(100%)

ENSG00000108091.11

ENSG00000165731.20

ENST00000263102.7

ENST00000355710.8

upstream

GGCATTGTCATCTCGCCGTTCCGCCTGGAGGAGCTCACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCTGAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATC|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAG

GIVISPFRLEELTNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTI|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG

LH00166:156:2373MLLT3:3:2145:11642:19217,LH00166:156:2373MLLT3:4:1187:13898:1945,LH00166:156:2373MLLT3:5:2246:10126:25690,LH00166:156:2373MLLT3:1:1136:51678:13097,LH00166:156:2373MLLT3:2:1109:13704:13273,LH00166:156:2373MLLT3:3:1242:48960:8899,LH00166:156:2373MLLT3:3:2182:29866:19714,LH00166:156:2373MLLT3:5:2250:33796:12584

chr10:59906122-chr10:43116584

0.03937007874015748

0.06521739130434782

0.05229373502225265

False

PASS

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

121

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(11),low_entropy(1),mismappers(4)

TGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCAC?TTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACA

DSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRS?SRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVP

LH00166:156:2373MLLT3:1:1101:15258:2538,LH00166:156:2373MLLT3:1:1115:15535:27020,LH00166:156:2373MLLT3:1:1115:26094:27597,LH00166:156:2373MLLT3:1:1275:44993:9492,LH00166:156:2373MLLT3:1:1277:27906:22694,LH00166:156:2373MLLT3:1:2201:10255:16846,LH00166:156:2373MLLT3:1:2246:25669:24585,LH00166:156:2373MLLT3:2:1231:6280:9828,LH00166:156:2373MLLT3:2:1252:18734:11094,LH00166:156:2373MLLT3:2:2155:47073:28318,LH00166:156:2373MLLT3:2:2259:16543:27709,LH00166:156:2373MLLT3:3:1271:23015:9316,LH00166:156:2373MLLT3:3:1276:51659:8130,LH00166:156:2373MLLT3:3:2106:50208:16221,LH00166:156:2373MLLT3:3:2116:16478:26283,LH00166:156:2373MLLT3:3:2177:21101:27180,LH00166:156:2373MLLT3:3:2261:26492:2554,LH00166:156:2373MLLT3:4:1165:14666:12023,LH00166:156:2373MLLT3:4:2183:5318:18000,LH00166:156:2373MLLT3:5:2128:4856:23864,LH00166:156:2373MLLT3:5:2144:13824:26684,LH00166:156:2373MLLT3:5:2223:8415:26027,LH00166:156:2373MLLT3:5:2266:33352:6656,LH00166:156:2373MLLT3:6:1138:1055:22534,LH00166:156:2373MLLT3:6:1288:1823:16750,LH00166:156:2373MLLT3:6:2276:16256:9396,LH00166:156:2373MLLT3:7:1257:45945:28542,LH00166:156:2373MLLT3:8:1228:16977:13754,LH00166:156:2373MLLT3:8:1247:13871:9972,LH00166:156:2373MLLT3:8:2131:22479:1401,LH00166:156:2373MLLT3:1:1167:15886:29135,LH00166:156:2373MLLT3:1:1279:35839:15933,LH00166:156:2373MLLT3:1:2136:11938:19762,LH00166:156:2373MLLT3:1:2155:22174:13401,LH00166:156:2373MLLT3:1:2165:6326:23239,LH00166:156:2373MLLT3:1:2192:36718:13449,LH00166:156:2373MLLT3:1:2198:29071:8370,LH00166:156:2373MLLT3:1:2221:20907:22806,LH00166:156:2373MLLT3:2:1148:42774:18176,LH00166:156:2373MLLT3:2:1211:12502:5999,LH00166:156:2373MLLT3:2:1226:48553:13193,LH00166:156:2373MLLT3:2:2196:13455:12552,LH00166:156:2373MLLT3:2:2271:34896:7858,LH00166:156:2373MLLT3:4:1206:15498:15164,LH00166:156:2373MLLT3:4:1238:5161:17567,LH00166:156:2373MLLT3:4:1261:11873:6896,LH00166:156:2373MLLT3:4:1288:47462:19890,LH00166:156:2373MLLT3:4:2172:38327:12135,LH00166:156:2373MLLT3:4:2215:49588:2234,LH00166:156:2373MLLT3:4:2283:16866:19426,LH00166:156:2373MLLT3:5:1122:30939:6063,LH00166:156:2373MLLT3:5:1124:36727:13818,LH00166:156:2373MLLT3:5:1259:2960:10806,LH00166:156:2373MLLT3:5:2244:51706:18240,LH00166:156:2373MLLT3:6:1188:12021:1929,LH00166:156:2373MLLT3:6:1198:23588:29407,LH00166:156:2373MLLT3:6:1227:46343:20515,LH00166:156:2373MLLT3:6:1261:45945:12167,LH00166:156:2373MLLT3:6:1279:13223:26443,LH00166:156:2373MLLT3:6:2220:14388:18528,LH00166:156:2373MLLT3:7:1110:33833:12937,LH00166:156:2373MLLT3:7:1181:24374:28879,LH00166:156:2373MLLT3:7:1213:29783:20499,LH00166:156:2373MLLT3:7:1283:47591:20179,LH00166:156:2373MLLT3:7:2174:18447:1657,LH00166:156:2373MLLT3:7:2180:39131:29103,LH00166:156:2373MLLT3:7:2225:29728:6175,LH00166:156:2373MLLT3:7:2285:29691:17839,LH00166:156:2373MLLT3:8:1159:13362:9860,LH00166:156:2373MLLT3:8:1249:31420:15548,LH00166:156:2373MLLT3:8:1250:46093:24857,LH00166:156:2373MLLT3:8:1292:34970:21156,LH00166:156:2373MLLT3:8:2118:38512:26459,LH00166:156:2373MLLT3:8:2140:19317:14891,LH00166:156:2373MLLT3:8:2164:14860:9764,LH00166:156:2373MLLT3:8:2171:27120:21108,LH00166:156:2373MLLT3:8:2179:4846:20771,LH00166:156:2373MLLT3:8:2189:48645:12712,LH00166:156:2373MLLT3:8:2281:45335:11559

chr14:23079590-chr14:23079595

0.24468085106382978

0.2484472049689441

0.24656402801638694

True

aih_curated_blacklist

score(3)

FAIL

confidence_below_min(medium<high);aih_curated_blacklist

NCOR2

-/-

chr12:124402513

chr12:124402515

CDS

duplication/ITD

492

406

medium

in-frame

G-protein_pathway_suppressor_2-interacting_domain(100%)|Myb-like_DNA-binding_domain(100%)

ENSG00000196498.13

ENST00000458234.5

upstream

downstream

duplicates(20),low_entropy(46)

TCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|AGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGG

YYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQQQQQQQQQQ|qPMPRSSQEEKDEKEKEKEAEKE

LH00166:156:2373MLLT3:1:1109:37115:8755,LH00166:156:2373MLLT3:1:1114:13418:4220,LH00166:156:2373MLLT3:1:1132:1416:19249,LH00166:156:2373MLLT3:1:1154:1481:24745,LH00166:156:2373MLLT3:1:1156:5512:27821,LH00166:156:2373MLLT3:1:1174:46731:25963,LH00166:156:2373MLLT3:1:1216:16349:25065,LH00166:156:2373MLLT3:1:1251:23255:9572,LH00166:156:2373MLLT3:1:1266:7833:20050,LH00166:156:2373MLLT3:1:2133:32252:25866,LH00166:156:2373MLLT3:1:2225:27120:9027,LH00166:156:2373MLLT3:1:2231:28285:6079,LH00166:156:2373MLLT3:1:2257:2683:13209,LH00166:156:2373MLLT3:2:1126:10496:17166,LH00166:156:2373MLLT3:2:1143:27435:6592,LH00166:156:2373MLLT3:2:1180:1684:14779,LH00166:156:2373MLLT3:2:1195:18900:21829,LH00166:156:2373MLLT3:2:1203:15017:19041,LH00166:156:2373MLLT3:2:1220:30430:1336,LH00166:156:2373MLLT3:2:1237:46620:12985,LH00166:156:2373MLLT3:2:1258:8212:28462,LH00166:156:2373MLLT3:2:1281:42136:29504,LH00166:156:2373MLLT3:2:2111:10597:11318,LH00166:156:2373MLLT3:2:2169:36145:13802,LH00166:156:2373MLLT3:2:2263:31374:5951,LH00166:156:2373MLLT3:3:1115:42191:16974,LH00166:156:2373MLLT3:3:1117:12225:3147,LH00166:156:2373MLLT3:3:1120:28655:21524,LH00166:156:2373MLLT3:3:1150:11171:26475,LH00166:156:2373MLLT3:3:1150:25844:13642,LH00166:156:2373MLLT3:3:1176:42386:22534,LH00166:156:2373MLLT3:3:1283:32825:25610,LH00166:156:2373MLLT3:3:1293:20953:6351,LH00166:156:2373MLLT3:3:2137:49570:2073,LH00166:156:2373MLLT3:3:2155:22950:17727,LH00166:156:2373MLLT3:3:2211:11735:1529,LH00166:156:2373MLLT3:3:2287:33389:29632,LH00166:156:2373MLLT3:4:1104:1277:4204,LH00166:156:2373MLLT3:4:1118:11125:14475,LH00166:156:2373MLLT3:4:1148:48479:21140,LH00166:156:2373MLLT3:4:1230:42349:24168,LH00166:156:2373MLLT3:4:1233:35238:3035,LH00166:156:2373MLLT3:4:1240:4338:28029,LH00166:156:2373MLLT3:4:1273:4181:19554,LH00166:156:2373MLLT3:4:1285:38558:2250,LH00166:156:2373MLLT3:4:2112:19067:26411,LH00166:156:2373MLLT3:4:2124:10274:23511,LH00166:156:2373MLLT3:4:2127:23986:1609,LH00166:156:2373MLLT3:4:2161:23561:3307,LH00166:156:2373MLLT3:4:2191:10671:11190,LH00166:156:2373MLLT3:4:2213:22562:13177,LH00166:156:2373MLLT3:4:2235:3589:16830,LH00166:156:2373MLLT3:4:2275:47878:22630,LH00166:156:2373MLLT3:4:2290:39908:19137,LH00166:156:2373MLLT3:4:2293:40943:24585,LH00166:156:2373MLLT3:5:1102:11476:24441,LH00166:156:2373MLLT3:5:1113:47166:7713,LH00166:156:2373MLLT3:5:1121:47878:7056,LH00166:156:2373MLLT3:5:1144:31891:6880,LH00166:156:2373MLLT3:5:1155:45113:12776,LH00166:156:2373MLLT3:5:1182:28997:11607,LH00166:156:2373MLLT3:5:1211:26223:26828,LH00166:156:2373MLLT3:5:1239:8295:23287,LH00166:156:2373MLLT3:5:1255:19594:26235,LH00166:156:2373MLLT3:5:1262:5799:16461,LH00166:156:2373MLLT3:5:1278:10958:17775,LH00166:156:2373MLLT3:5:2104:14527:9155,LH00166:156:2373MLLT3:5:2169:6927:16942,LH00166:156:2373MLLT3:5:2182:27490:16301,LH00166:156:2373MLLT3:5:2218:7028:2891,LH00166:156:2373MLLT3:5:2249:21092:9860,LH00166:156:2373MLLT3:5:2261:28498:28590,LH00166:156:2373MLLT3:5:2267:50994:19217,LH00166:156:2373MLLT3:5:2291:32178:6255,LH00166:156:2373MLLT3:5:2297:31401:12600,LH00166:156:2373MLLT3:6:1106:45122:20996,LH00166:156:2373MLLT3:6:1109:37023:5775,LH00166:156:2373MLLT3:6:1135:23755:24601,LH00166:156:2373MLLT3:6:1187:34785:26315,LH00166:156:2373MLLT3:6:1256:23006:14747,LH00166:156:2373MLLT3:6:1275:2711:13129,LH00166:156:2373MLLT3:6:1289:19501:21268,LH00166:156:2373MLLT3:6:2124:19622:13113,LH00166:156:2373MLLT3:6:2125:3099:25242,LH00166:156:2373MLLT3:6:2164:38687:17343,LH00166:156:2373MLLT3:6:2172:39159:11174,LH00166:156:2373MLLT3:6:2186:12326:8867,LH00166:156:2373MLLT3:6:2247:25798:15805,LH00166:156:2373MLLT3:6:2272:2942:7409,LH00166:156:2373MLLT3:6:2285:33297:17455,LH00166:156:2373MLLT3:7:1110:21360:9428,LH00166:156:2373MLLT3:7:1112:1952:22037,LH00166:156:2373MLLT3:7:1131:34064:9332,LH00166:156:2373MLLT3:7:1131:34554:28799,LH00166:156:2373MLLT3:7:1156:31882:13818,LH00166:156:2373MLLT3:7:1184:14777:12344,LH00166:156:2373MLLT3:7:1184:14795:12344,LH00166:156:2373MLLT3:7:1224:25854:22694,LH00166:156:2373MLLT3:7:1293:30504:26203,LH00166:156:2373MLLT3:7:1298:44716:11543,LH00166:156:2373MLLT3:7:2107:32594:10437,LH00166:156:2373MLLT3:7:2145:16173:9924,LH00166:156:2373MLLT3:7:2145:50115:24232,LH00166:156:2373MLLT3:7:2184:35174:5134,LH00166:156:2373MLLT3:7:2241:39954:28478,LH00166:156:2373MLLT3:7:2243:36829:22101,LH00166:156:2373MLLT3:7:2252:48895:19394,LH00166:156:2373MLLT3:8:1173:30181:12376,LH00166:156:2373MLLT3:8:1187:36847:19570,LH00166:156:2373MLLT3:8:1193:42312:2762,LH00166:156:2373MLLT3:8:1247:30079:6976,LH00166:156:2373MLLT3:8:1281:19455:19970,LH00166:156:2373MLLT3:8:1294:22137:28078,LH00166:156:2373MLLT3:8:2135:3469:11687,LH00166:156:2373MLLT3:8:2155:39871:1705,LH00166:156:2373MLLT3:8:2213:6797:20082,LH00166:156:2373MLLT3:7:2104:26760:1609

chr12:124402513-chr12:124402515

0.09225092250922509

0.002457002457002457

0.04735396248311378

False

FAIL

confidence_below_min(medium<high)

ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

medium

in-frame

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

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(20)

GAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT

EECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKK

LH00166:156:2373MLLT3:1:1109:20500:2714,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:2:1137:50236:4188,LH00166:156:2373MLLT3:6:1194:6298:10117,LH00166:156:2373MLLT3:6:2106:25872:23367,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2245:9285:20579,LH00166:156:2373MLLT3:1:1109:20500:2714,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:2:1137:50236:4188,LH00166:156:2373MLLT3:6:2106:25872:23367,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:7:2133:21240:2330,LH00166:156:2373MLLT3:7:2245:9285:20579,LH00166:156:2373MLLT3:8:1291:18429:3515,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:1:2264:44928:3580,LH00166:156:2373MLLT3:2:1169:35571:18064,LH00166:156:2373MLLT3:6:1112:27601:7681,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:8:2196:25955:12488,LH00166:156:2373MLLT3:1:2264:44928:3580,LH00166:156:2373MLLT3:2:1169:35571:18064,LH00166:156:2373MLLT3:6:1112:27601:7681,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:8:2196:25955:12488

chr19:57874500-chr19:57874583

0.1896551724137931

0.09433962264150944

0.14199739752765128

True

aih_curated_blacklist

score(3)

FAIL

confidence_below_min(medium<high);aih_curated_blacklist

CD74

ROS1

-/-

chr5:150404680

chr6:117324415

CDS/splice-site

translocation

3527

medium

in-frame

CLIP__MHC2_interacting(100%),Class_II_MHC-associated_invariant_chain_trimerisation_domain(100%)|Protein_kinase_domain(100%)

ENSG00000019582.16

ENSG00000047936.11

ENST00000009530.12

ENST00000368507.8

upstream

downstream

duplicates(4)

ACCTGAGACACCTTAAGAACACCATGGAGACCATAGACTGGAAG___GTCTTTGAGAGCTGGATGCACCATTGGCTCCTGTTTGAAATGAGCAGGCACTCCTTGGAGCAAAAGCCCACTGACGCTCCACCGAAAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG...GTCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGGCTAATGCCTGCTATGCAATACA___TACTCTTCCAACCC

LRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPK|dDFWIPETSFILTIIVGIFLVVTIPLTF

LH00166:156:2373MLLT3:1:1242:5956:14298,LH00166:156:2373MLLT3:2:1188:15674:16333,LH00166:156:2373MLLT3:2:2163:33824:5102,LH00166:156:2373MLLT3:4:1286:35525:28110,LH00166:156:2373MLLT3:4:2146:14102:23415,LH00166:156:2373MLLT3:4:2173:24504:10325,LH00166:156:2373MLLT3:6:1293:12770:12872,LH00166:156:2373MLLT3:6:2227:48266:12280,LH00166:156:2373MLLT3:7:1123:16644:14106,LH00166:156:2373MLLT3:7:2290:14102:27228,LH00166:156:2373MLLT3:8:1125:3349:24360,LH00166:156:2373MLLT3:1:1274:39935:16590,LH00166:156:2373MLLT3:3:1104:22534:14379,LH00166:156:2373MLLT3:3:1119:42497:10581,LH00166:156:2373MLLT3:7:2166:2757:24008,LH00166:156:2373MLLT3:7:2283:26908:22181,LH00166:156:2373MLLT3:3:1165:42524:4637,LH00166:156:2373MLLT3:3:1165:42534:4685,LH00166:156:2373MLLT3:5:2221:27786:9828

chr5:150404680-chr6:117324415

0.0029681978798586574

0.21951219512195122

0.11124019650090494

False

FAIL

confidence_below_min(medium<high)

EML4

ALK

+/+

-/-

chr2:42295516

chr2:29223528

CDS/splice-site

inversion

medium

in-frame

HELP_motif(100%),WD_domain__G-beta_repeat(25%)|Protein_kinase_domain(100%)

ENSG00000143924.19

ENSG00000171094.18

ENST00000318522.10

ENST00000389048.8

downstream

duplicates(1)

CTTACTGGAGACTCAGGTGGAGTCATGCTTATATGGAGCAAAACTACTGTAGAGCCCACACCTGGGAAAGGACCTAAAG|TGTACCGCCGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTGAGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCCAACTACTGaTTTGCTGGCAAGACCTCCTCCATCAGTGACCTGAAGGAGGTGCCGCGGAAAAACATCACCC

LTGDSGGVMLIWSKTTVEPTPGKGPK|vYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYNPNY*

LH00166:156:2373MLLT3:1:1212:34526:23399,LH00166:156:2373MLLT3:1:2142:30717:8114,LH00166:156:2373MLLT3:2:1252:4745:20211,LH00166:156:2373MLLT3:3:1292:38364:5951

chr2:42295516-chr2:29223528

0.0

0.15

0.075

False

FAIL

confidence_below_min(medium<high);total_reads_below_min(3.0<8.0)

SLC34A2

ROS1

+/+

-/-

chr4:25664330

chr6:117324415

CDS/splice-site

translocation

medium

in-frame

Na+/Pi-cotransporter(8%)|Protein_kinase_domain(100%)

ENSG00000157765.13

ENSG00000047936.11

ENST00000645788.1

ENST00000368507.8

downstream

mismatches(1)

GGAAGATTCTCTGTTTCTTCCAAGGGATTGGGAGATTGATTTTACTTCTCGGATTTCTCTACTTTTTCGTGTGCTCCCTGGATATTCTTAGTAGCGCCTTCCAGCTGGTTGGAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGG

KILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVG|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLINEDKELAELRGLAAGVGL

LH00166:156:2373MLLT3:4:1218:12382:4957,LH00166:156:2373MLLT3:7:1224:20361:6319,LH00166:156:2373MLLT3:8:1168:6575:6976

chr4:25664330-chr6:117324415

0.0

0.1111111111111111

0.05555555555555555

False

FAIL

confidence_below_min(medium<high);total_reads_below_min(2.0<8.0)

AL672310.1(1405),RPL23AP47(5577)

SEPTIN14

./+

-/-

chr6:170739941

chr7:55796092

intergenic

CDS/splice-site

translocation

medium

ENSG00000154997.9

ENST00000388975.4

downstream

CCAGAGTTTCGTTGTCCTTAAGACTGACCTGGGGAGACGTGGCTGCAGGCCATTGAGGAAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACC

LH00166:156:2373MLLT3:1:2140:46343:26187,LH00166:156:2373MLLT3:4:1295:27296:2762

chr6:170739941-chr7:55796092

0.028985507246376812

False

FAIL

confidence_below_min(medium<high);total_reads_below_min(2.0<8.0)

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

low

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(1)

GGGAACGTGGTGGCCTCGCTGGCGCAGGCCCTGCAGGAACTCTCCACCAGCTTCCGGCACGCACAaTCAGGCTACCTCAAAC___GCATGAAGAATCGAGAGGAAAGATCCCAGCATTTTTTCGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCC

GNVVASLAQALQELSTSFRHAQSGYLKRMKNREERSQHFFDTSVPLMDDGDDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00166:156:2373MLLT3:3:2155:34804:10357,LH00166:156:2373MLLT3:7:2204:17865:27853,LH00166:156:2373MLLT3:7:2255:30652:1881,LH00166:156:2373MLLT3:2:2162:28193:11783,LH00166:156:2373MLLT3:3:1107:12955:22838,LH00166:156:2373MLLT3:4:1221:15877:21781,LH00166:156:2373MLLT3:6:1148:11263:6255,LH00166:156:2373MLLT3:7:1234:7731:16221,LH00166:156:2373MLLT3:8:2207:35913:18208

chr20:58673711-chr20:58691724

0.03896103896103896

0.14285714285714285

0.09090909090909091

False

FAIL

confidence_below_min(low<high)

STX16

NPEPL1

+/+

chr20:58673711

chr20:58693737

CDS/splice-site

deletion/read-through

low

in-frame

SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(74%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

low_entropy(1)

CAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGCCACCGTGGCTGCCCTGCCCTGCAGGGTGAGCCGGCACAACAGCCCCTCGGCCGCCCACTTCATCACGCGGCTGGTGCGGACCTGCCTGCCGCCCGaAGC

QLHK|LWQAALSTLNPNPTDSCPLYLNYATVAALPCRVSRHNSPSAAHFITRLVRTCLPPe

LH00166:156:2373MLLT3:7:1245:34009:15644

chr20:58673711-chr20:58693737

0.0

False

FAIL

confidence_below_min(low<high);total_reads_below_min(0.0<8.0)

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

mismappers(1)

TCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAG

LH00166:156:2373MLLT3:3:1185:36394:24809,LH00166:156:2373MLLT3:7:2291:23144:12712,LH00166:156:2373MLLT3:3:1196:49977:21044

chr5:115616318-chr5:115581315

0.0

0.2857142857142857

0.14285714285714285

False

FAIL

confidence_below_min(low<high);total_reads_below_min(2.0<8.0)

SOGA3

KIAA0408

-/-

chr6:127473080

chr6:127454101

3'UTR

5'UTR/splice-site

deletion/read-through

low

Protein_SOGA_(100%)|Domain_of_unknown_function_(DUF4482)(100%)

ENSG00000214338.10

ENSG00000189367.15

ENST00000525778.5

ENST00000483725.8

upstream

downstream

TTTCATCACTTTCTTACACAACAATATTTAAACTTGTCTTCCTTTTTACACTGTTTTTTGTACTGTAAATCTTTCATCATTTACCATTCATTGTAGTATTTTCAGTTTGTTTATTTTGTTCACCCTTCAAGACAAGAAGTAAAAGAAGTA...TGCTATAAAAACACTGAAGACTGCTTATTTCTTTAAAAAGATACAACTCATCTTACCAAGACCAAATTCAATAAGAAGCCCAAACACTAAAATATTTCAG|GCTTTATTTTAAAGGCAAGTGAGACTGCTTCAAATAAAACAACTTCAAGCTTCCAAGAAACAGTTAAGAGGAGGCAGAGAAGAGCAGAAACACTTCTTTGCTGACACTTACACTGTTGCCATGGACCTACATAAGCAGTGGGAGAACACAGAGACTAACTGGCATAAGGAAAAGATGGAATTACTGGACCAGTTTGACAATGAAAGAAAGGAATGG

LH00166:156:2373MLLT3:4:2162:50504:17535,LH00166:156:2373MLLT3:5:2183:47055:13449

chr6:127473080-chr6:127454101

0.25

0.3333333333333333

0.29166666666666663

False

FAIL

confidence_below_min(low<high);total_reads_below_min(2.0<8.0)

TMPRSS2

ERG

-/-

chr21:41508081

chr21:38584945

5'UTR/splice-site

deletion

low

|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%)

ENSG00000184012.14

ENSG00000157554.19

ENST00000332149.10

ENST00000442448.5

upstream

downstream

GCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATGACTCACAGAGAAAAAAGATGGCAGAACCAAGGGCAACTAAAG___CCGTCAGGTTCTGAACAGCTGGTAGATGGGCTGGCTTACTGAAGGACATGATTCAGACTGTCCCGGACCCAGCAGCTCATATCAAGG

LH00166:156:2373MLLT3:8:1156:37494:17968

chr21:41508081-chr21:38584945

0.14285714285714285

False

FAIL

confidence_below_min(low<high);total_reads_below_min(1.0<8.0)

26 rows