Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 204231719 204231719 + Missense_Mutation SNP G G A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr2:204231719G>A c.26G>A c.(25-27)aGg>aAg p.R9K BLCA 2 204244965 204244965 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr2:204244965G>A c.320G>A c.(319-321)aGa>aAa p.R107K BLCA 2 204260417 204260417 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr2:204260417G>A c.764G>A c.(763-765)cGg>cAg p.R255Q BLCA 2 204260431 204260431 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:204260431G>A c.778G>A c.(778-780)Gag>Aag p.E260K BLCA 2 204276052 204276052 + Missense_Mutation SNP C C A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr2:204276052C>A c.1036C>A c.(1036-1038)Cag>Aag p.Q346K BLCA 2 204281636 204281636 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr2:204281636G>C c.1099G>C c.(1099-1101)Gat>Cat p.D367H BLCA 2 204291976 204291976 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr2:204291976C>G c.1344C>G c.(1342-1344)atC>atG p.I448M BRCA 2 204245048 204245048 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:204245048C>T c.403C>T c.(403-405)Cgt>Tgt p.R135C BRCA 2 204255823 204255823 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:204255823C>G c.535C>G c.(535-537)Cag>Gag p.Q179E BRCA 2 204291989 204291989 + Missense_Mutation SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 g.chr2:204291989G>A c.1357G>A c.(1357-1359)Gat>Aat p.D453N CESC 2 204292029 204292029 + Missense_Mutation SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr2:204292029T>G c.1397T>G c.(1396-1398)cTt>cGt p.L466R COAD 2 204259440 204259440 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:204259440G>A c.596G>A c.(595-597)cGc>cAc p.R199H COAD 2 204260401 204260401 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:204260401A>G c.748A>G c.(748-750)Agc>Ggc p.S250G COAD 2 204267312 204267312 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:204267312G>A c.948G>A c.(946-948)caG>caA p.Q316Q COAD 2 204267450 204267450 + Missense_Mutation SNP G G T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:204267450G>T c.1086G>T c.(1084-1086)caG>caT p.Q362H COAD 2 204291955 204291955 + Silent SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr2:204291955A>G c.1323A>G c.(1321-1323)gaA>gaG p.E441E COADREAD 2 204245081 204245081 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:204245081C>A c.436C>A c.(436-438)Cta>Ata p.L146I COADREAD 2 204259440 204259440 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:204259440G>A c.596G>A c.(595-597)cGc>cAc p.R199H COADREAD 2 204260401 204260401 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:204260401A>G c.748A>G c.(748-750)Agc>Ggc p.S250G COADREAD 2 204260401 204260401 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr2:204260401A>G c.748A>G c.(748-750)Agc>Ggc p.S250G COADREAD 2 204267312 204267312 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:204267312G>A c.948G>A c.(946-948)caG>caA p.Q316Q COADREAD 2 204267450 204267450 + Missense_Mutation SNP G G T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:204267450G>T c.1086G>T c.(1084-1086)caG>caT p.Q362H COADREAD 2 204291955 204291955 + Silent SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr2:204291955A>G c.1323A>G c.(1321-1323)gaA>gaG p.E441E ESCA 2 204255850 204255850 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 g.chr2:204255850G>T c.562G>T c.(562-564)Ggg>Tgg p.G188W ESCA 2 204259464 204259464 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr2:204259464C>A c.620C>A c.(619-621)cCa>cAa p.P207Q GBM 2 204260428 204260428 + Nonsense_Mutation SNP C C T TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr2:204260428C>T c.775C>T c.(775-777)Cga>Tga p.R259* GBMLGG 2 204245034 204245034 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204245034T>A c.389T>A c.(388-390)cTt>cAt p.L130H GBMLGG 2 204255867 204255867 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204255867G>A c.e5+1 GBMLGG 2 204259426 204259426 + Silent SNP G G A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr2:204259426G>A c.582G>A c.(580-582)cgG>cgA p.R194R GBMLGG 2 204260428 204260428 + Nonsense_Mutation SNP C C T TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr2:204260428C>T c.775C>T c.(775-777)Cga>Tga p.R259* GBMLGG 2 204281776 204281776 + Silent SNP G G A TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr2:204281776G>A c.1239G>A c.(1237-1239)ccG>ccA p.P413P HNSC 2 204255845 204255845 + Missense_Mutation SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr2:204255845T>A c.557T>A c.(556-558)aTg>aAg p.M186K HNSC 2 204259499 204259499 + Missense_Mutation SNP C C T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr2:204259499C>T c.655C>T c.(655-657)Cgt>Tgt p.R219C HNSC 2 204291988 204291988 + Missense_Mutation SNP C C G TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr2:204291988C>G c.1356C>G c.(1354-1356)gaC>gaG p.D452E KIPAN 2 204259531 204259531 + Silent SNP G G T TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr2:204259531G>T c.687G>T c.(685-687)gtG>gtT p.V229V KIPAN 2 204267389 204267389 + Missense_Mutation SNP C C A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr2:204267389C>A c.1025C>A c.(1024-1026)cCt>cAt p.P342H KIPAN 2 204267454 204267454 + Missense_Mutation SNP C C G TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr2:204267454C>G c.1090C>G c.(1090-1092)Cca>Gca p.P364A KIPAN 2 204281636 204281636 + Missense_Mutation SNP G G T TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr2:204281636G>T c.1099G>T c.(1099-1101)Gat>Tat p.D367Y KIRC 2 204259531 204259531 + Silent SNP G G T TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr2:204259531G>T c.687G>T c.(685-687)gtG>gtT p.V229V KIRC 2 204267389 204267389 + Missense_Mutation SNP C C A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr2:204267389C>A c.1025C>A c.(1024-1026)cCt>cAt p.P342H KIRC 2 204281636 204281636 + Missense_Mutation SNP G G T TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr2:204281636G>T c.1099G>T c.(1099-1101)Gat>Tat p.D367Y KIRP 2 204267454 204267454 + Missense_Mutation SNP C C G TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr2:204267454C>G c.1090C>G c.(1090-1092)Cca>Gca p.P364A LGG 2 204245034 204245034 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204245034T>A c.389T>A c.(388-390)cTt>cAt p.L130H LGG 2 204255867 204255867 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204255867G>A c.e5+1 LGG 2 204259426 204259426 + Silent SNP G G A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr2:204259426G>A c.582G>A c.(580-582)cgG>cgA p.R194R LGG 2 204281776 204281776 + Silent SNP G G A TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr2:204281776G>A c.1239G>A c.(1237-1239)ccG>ccA p.P413P LIHC 2 204193320 204193320 + Missense_Mutation SNP G G T TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chr2:204193320G>T c.83G>T c.(82-84)cGg>cTg p.R28L LIHC 2 204267450 204267450 + Missense_Mutation SNP G G C TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr2:204267450G>C c.1086G>C c.(1084-1086)caG>caC p.Q362H LIHC 2 204281668 204281668 + Silent SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:204281668A>G c.1131A>G c.(1129-1131)gaA>gaG p.E377E LUAD 2 204193298 204193298 + Missense_Mutation SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:204193298G>C c.61G>C c.(61-63)Gac>Cac p.D21H LUAD 2 204245042 204245042 + Missense_Mutation SNP C C T TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr2:204245042C>T c.397C>T c.(397-399)Cca>Tca p.P133S LUAD 2 204245064 204245064 + Missense_Mutation SNP C C T TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr2:204245064C>T c.419C>T c.(418-420)cCt>cTt p.P140L LUAD 2 204259426 204259426 + Silent SNP G G A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr2:204259426G>A c.582G>A c.(580-582)cgG>cgA p.R194R LUAD 2 204259513 204259513 + Silent SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr2:204259513C>G c.669C>G c.(667-669)ccC>ccG p.P223P LUAD 2 204267336 204267336 + Silent SNP C C G TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr2:204267336C>G c.972C>G c.(970-972)gcC>gcG p.A324A LUAD 2 204281786 204281786 + Missense_Mutation SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr2:204281786C>T c.1249C>T c.(1249-1251)Cgt>Tgt p.R417C OV 2 204292061 204292061 + Missense_Mutation SNP C C T TCGA-42-2582-01A-01D-1526-09 TCGA-42-2582-10A-01D-1526-09 g.chr2:204292061C>T c.1429C>T c.(1429-1431)Cat>Tat p.H477Y PAAD 2 204231708 204231708 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:204231708C>A c.15C>A c.(13-15)tgC>tgA p.C5* PRAD 2 204259440 204259440 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:204259440G>A c.596G>A c.(595-597)cGc>cAc p.R199H READ 2 204245081 204245081 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:204245081C>A c.436C>A c.(436-438)Cta>Ata p.L146I READ 2 204260401 204260401 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr2:204260401A>G c.748A>G c.(748-750)Agc>Ggc p.S250G SKCM 2 204231653 204231653 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:204231653C>T c.171C>T c.(169-171)tcC>tcT p.S57S SKCM 2 204231698 204231698 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr2:204231698C>T c.5C>T c.(4-6)tCc>tTc p.S2F SKCM 2 204245048 204245048 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:204245048C>T c.403C>T c.(403-405)Cgt>Tgt p.R135C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 204193319 204193319 single base substitution C A 5_prime_UTR_variant BLCA-CN 2 204193319 204193319 single base substitution C A exon_variant BLCA-CN 2 204193319 204193319 single base substitution C A synonymous_variant R28R 82C>A BLCA-US 2 204244965 204244965 single base substitution G A 3_prime_UTR_variant BLCA-US 2 204244965 204244965 single base substitution G A downstream_gene_variant BLCA-US 2 204244965 204244965 single base substitution G A exon_variant BLCA-US 2 204244965 204244965 single base substitution G A intron_variant BLCA-US 2 204244965 204244965 single base substitution G A missense_variant R107K 320G>A BLCA-US 2 204244965 204244965 single base substitution G A missense_variant R62K 185G>A BLCA-US 2 204244965 204244965 single base substitution G A upstream_gene_variant BLCA-US 2 204291976 204291976 single base substitution C G 3_prime_UTR_variant BLCA-US 2 204291976 204291976 single base substitution C G downstream_gene_variant BLCA-US 2 204291976 204291976 single base substitution C G exon_variant BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I260M 780C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I267M 801C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I369M 1107C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I426M 1278C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I443M 1329C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I448M 1344C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I475M 1425C>G BLCA-US 2 204291976 204291976 single base substitution C G missense_variant I481M 1443C>G BLCA-US 2 204304271 204304271 single base substitution C G 3_prime_UTR_variant BLCA-US 2 204304271 204304271 single base substitution C G downstream_gene_variant BOCA-FR 2 204207211 204207211 single base substitution A G intron_variant BOCA-FR 2 204293778 204293778 single base substitution C T 3_prime_UTR_variant BOCA-FR 2 204293778 204293778 single base substitution C T downstream_gene_variant BOCA-FR 2 204293778 204293778 single base substitution C T intron_variant BOCA-FR 2 204294915 204294915 single base substitution G T 3_prime_UTR_variant BOCA-FR 2 204294915 204294915 single base substitution G T downstream_gene_variant BOCA-FR 2 204294915 204294915 single base substitution G T intron_variant BRCA-EU 2 204188506 204188506 single base substitution C A upstream_gene_variant BRCA-EU 2 204189265 204189265 single base substitution G C upstream_gene_variant BRCA-EU 2 204190016 204190016 single base substitution G A upstream_gene_variant BRCA-EU 2 204192084 204192084 single base substitution G A upstream_gene_variant BRCA-EU 2 204192672 204192672 single base substitution G A upstream_gene_variant BRCA-EU 2 204195201 204195201 single base substitution G A intron_variant BRCA-EU 2 204195319 204195319 single base substitution G C intron_variant BRCA-EU 2 204195701 204195701 single base substitution A C intron_variant BRCA-EU 2 204200071 204200071 single base substitution C A intron_variant BRCA-EU 2 204203544 204203544 single base substitution C T intron_variant BRCA-EU 2 204203796 204203796 single base substitution A T intron_variant BRCA-EU 2 204204114 204204114 single base substitution C A intron_variant BRCA-EU 2 204205064 204205064 single base substitution T G intron_variant BRCA-EU 2 204205719 204205719 single base substitution C G intron_variant BRCA-EU 2 204206202 204206202 single base substitution C T intron_variant BRCA-EU 2 204208039 204208039 single base substitution A T intron_variant BRCA-EU 2 204208415 204208415 single base substitution G C intron_variant BRCA-EU 2 204208911 204208911 single base substitution G A intron_variant BRCA-EU 2 204209096 204209096 single base substitution T C intron_variant BRCA-EU 2 204209629 204209629 single base substitution C T intron_variant BRCA-EU 2 204210576 204210576 single base substitution C G intron_variant BRCA-EU 2 204210792 204210792 single base substitution G C intron_variant BRCA-EU 2 204212761 204212761 single base substitution C T intron_variant BRCA-EU 2 204213591 204213591 single base substitution T A intron_variant BRCA-EU 2 204213641 204213641 insertion of <=200bp - T intron_variant BRCA-EU 2 204214097 204214097 single base substitution C G intron_variant BRCA-EU 2 204214638 204214638 single base substitution G C intron_variant BRCA-EU 2 204216214 204216214 single base substitution T A intron_variant BRCA-EU 2 204216464 204216464 single base substitution G C intron_variant BRCA-EU 2 204217758 204217758 single base substitution G C intron_variant BRCA-EU 2 204218240 204218240 single base substitution T G intron_variant BRCA-EU 2 204219268 204219268 single base substitution A T intron_variant BRCA-EU 2 204221845 204221845 single base substitution T C intron_variant BRCA-EU 2 204222960 204222960 single base substitution C A intron_variant BRCA-EU 2 204223410 204223410 single base substitution G A intron_variant BRCA-EU 2 204225783 204225783 single base substitution C T intron_variant BRCA-EU 2 204227251 204227254 deletion of <=200bp TTTA - intron_variant BRCA-EU 2 204229174 204229174 single base substitution G A intron_variant BRCA-EU 2 204229507 204229507 single base substitution G C intron_variant BRCA-EU 2 204229749 204229749 single base substitution G A intron_variant BRCA-EU 2 204231054 204231054 single base substitution C G intron_variant BRCA-EU 2 204231130 204231130 insertion of <=200bp - T intron_variant BRCA-EU 2 204231566 204231566 single base substitution G C intron_variant BRCA-EU 2 204232286 204232286 single base substitution A C downstream_gene_variant BRCA-EU 2 204232286 204232286 single base substitution A C intron_variant BRCA-EU 2 204233238 204233238 single base substitution G T downstream_gene_variant BRCA-EU 2 204233238 204233238 single base substitution G T intron_variant BRCA-EU 2 204234203 204234203 single base substitution G C downstream_gene_variant BRCA-EU 2 204234203 204234203 single base substitution G C intron_variant BRCA-EU 2 204235235 204235235 single base substitution C G downstream_gene_variant BRCA-EU 2 204235235 204235235 single base substitution C G intron_variant BRCA-EU 2 204235976 204235976 single base substitution C T downstream_gene_variant BRCA-EU 2 204235976 204235976 single base substitution C T intron_variant BRCA-EU 2 204236978 204236978 single base substitution C T downstream_gene_variant BRCA-EU 2 204236978 204236978 single base substitution C T intron_variant BRCA-EU 2 204237227 204237227 single base substitution G A intron_variant BRCA-EU 2 204238754 204238754 single base substitution C T intron_variant BRCA-EU 2 204238865 204238865 single base substitution G A intron_variant BRCA-EU 2 204238984 204238984 single base substitution G C intron_variant BRCA-EU 2 204239293 204239295 deletion of <=200bp ATT - intron_variant BRCA-EU 2 204239352 204239352 single base substitution A G intron_variant BRCA-EU 2 204240675 204240675 single base substitution C T intron_variant BRCA-EU 2 204240675 204240675 single base substitution C T upstream_gene_variant BRCA-EU 2 204242037 204242037 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 204242037 204242037 deletion of <=200bp A - intron_variant BRCA-EU 2 204242037 204242037 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 204243095 204243095 single base substitution A G downstream_gene_variant BRCA-EU 2 204243095 204243095 single base substitution A G intron_variant BRCA-EU 2 204243095 204243095 single base substitution A G upstream_gene_variant BRCA-EU 2 204244478 204244478 single base substitution T G downstream_gene_variant BRCA-EU 2 204244478 204244478 single base substitution T G intron_variant BRCA-EU 2 204244478 204244478 single base substitution T G upstream_gene_variant BRCA-EU 2 204245934 204245934 single base substitution A G downstream_gene_variant BRCA-EU 2 204245934 204245934 single base substitution A G intron_variant BRCA-EU 2 204245934 204245934 single base substitution A G upstream_gene_variant BRCA-EU 2 204247797 204247797 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 204247797 204247797 deletion of <=200bp T - intron_variant BRCA-EU 2 204248838 204248849 deletion of <=200bp ATTTAAGAGTTC - downstream_gene_variant BRCA-EU 2 204248838 204248849 deletion of <=200bp ATTTAAGAGTTC - intron_variant BRCA-EU 2 204248849 204248849 single base substitution C A downstream_gene_variant BRCA-EU 2 204248849 204248849 single base substitution C A intron_variant BRCA-EU 2 204249636 204249636 insertion of <=200bp - CAACCTC downstream_gene_variant BRCA-EU 2 204249636 204249636 insertion of <=200bp - CAACCTC intron_variant BRCA-EU 2 204249842 204249842 single base substitution C G downstream_gene_variant BRCA-EU 2 204249842 204249842 single base substitution C G intron_variant BRCA-EU 2 204251424 204251424 single base substitution C T downstream_gene_variant BRCA-EU 2 204251424 204251424 single base substitution C T intron_variant BRCA-EU 2 204251424 204251424 single base substitution C T upstream_gene_variant BRCA-EU 2 204251446 204251446 single base substitution C T downstream_gene_variant BRCA-EU 2 204251446 204251446 single base substitution C T intron_variant BRCA-EU 2 204251446 204251446 single base substitution C T upstream_gene_variant BRCA-EU 2 204251655 204251655 single base substitution G A downstream_gene_variant BRCA-EU 2 204251655 204251655 single base substitution G A intron_variant BRCA-EU 2 204251655 204251655 single base substitution G A upstream_gene_variant BRCA-EU 2 204252147 204252147 single base substitution G A downstream_gene_variant BRCA-EU 2 204252147 204252147 single base substitution G A intron_variant BRCA-EU 2 204252147 204252147 single base substitution G A upstream_gene_variant BRCA-EU 2 204252984 204252984 single base substitution A G downstream_gene_variant BRCA-EU 2 204252984 204252984 single base substitution A G intron_variant BRCA-EU 2 204252984 204252984 single base substitution A G upstream_gene_variant BRCA-EU 2 204254404 204254404 single base substitution T G intron_variant BRCA-EU 2 204254404 204254404 single base substitution T G upstream_gene_variant BRCA-EU 2 204255255 204255255 single base substitution T C intron_variant BRCA-EU 2 204255255 204255255 single base substitution T C upstream_gene_variant BRCA-EU 2 204256844 204256844 single base substitution C G intron_variant BRCA-EU 2 204256844 204256844 single base substitution C G upstream_gene_variant BRCA-EU 2 204257966 204257966 single base substitution T C intron_variant BRCA-EU 2 204257966 204257966 single base substitution T C upstream_gene_variant BRCA-EU 2 204258002 204258002 single base substitution T A intron_variant BRCA-EU 2 204258002 204258002 single base substitution T A upstream_gene_variant BRCA-EU 2 204258111 204258111 single base substitution G A intron_variant BRCA-EU 2 204258111 204258111 single base substitution G A upstream_gene_variant BRCA-EU 2 204258257 204258257 single base substitution C A intron_variant BRCA-EU 2 204258257 204258257 single base substitution C A upstream_gene_variant BRCA-EU 2 204258532 204258532 single base substitution G A intron_variant BRCA-EU 2 204258532 204258532 single base substitution G A upstream_gene_variant BRCA-EU 2 204259457 204259457 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 204259457 204259457 single base substitution C T exon_variant BRCA-EU 2 204259457 204259457 single base substitution C T intron_variant BRCA-EU 2 204259457 204259457 single base substitution C T missense_variant R154C 460C>T BRCA-EU 2 204259457 204259457 single base substitution C T missense_variant R199C 595C>T BRCA-EU 2 204259457 204259457 single base substitution C T missense_variant R205C 613C>T BRCA-EU 2 204259457 204259457 single base substitution C T missense_variant R45C 133C>T BRCA-EU 2 204259457 204259457 single base substitution C T missense_variant R70C 208C>T BRCA-EU 2 204259457 204259457 single base substitution C T upstream_gene_variant BRCA-EU 2 204259513 204259513 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 204259513 204259513 single base substitution C T exon_variant BRCA-EU 2 204259513 204259513 single base substitution C T intron_variant BRCA-EU 2 204259513 204259513 single base substitution C T synonymous_variant P172P 516C>T BRCA-EU 2 204259513 204259513 single base substitution C T synonymous_variant P217P 651C>T BRCA-EU 2 204259513 204259513 single base substitution C T synonymous_variant P223P 669C>T BRCA-EU 2 204259513 204259513 single base substitution C T synonymous_variant P63P 189C>T BRCA-EU 2 204259513 204259513 single base substitution C T synonymous_variant P88P 264C>T BRCA-EU 2 204259755 204259755 single base substitution T G intron_variant BRCA-EU 2 204261795 204261795 deletion of <=200bp A - intron_variant BRCA-EU 2 204262719 204262719 single base substitution T A intron_variant BRCA-EU 2 204262719 204262719 single base substitution T A upstream_gene_variant BRCA-EU 2 204262966 204262966 single base substitution A T intron_variant BRCA-EU 2 204262966 204262966 single base substitution A T upstream_gene_variant BRCA-EU 2 204262974 204262974 single base substitution A G intron_variant BRCA-EU 2 204262974 204262974 single base substitution A G upstream_gene_variant BRCA-EU 2 204263954 204263954 single base substitution C G intron_variant BRCA-EU 2 204263954 204263954 single base substitution C G upstream_gene_variant BRCA-EU 2 204266721 204266721 single base substitution A C intron_variant BRCA-EU 2 204266721 204266721 single base substitution A C upstream_gene_variant BRCA-EU 2 204267130 204267130 single base substitution T C intron_variant BRCA-EU 2 204267130 204267130 single base substitution T C upstream_gene_variant BRCA-EU 2 204267373 204267373 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 204267373 204267373 single base substitution C T exon_variant BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P149S 445C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P156S 466C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P173S 517C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P258S 772C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P303S 907C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P315S 943C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P337S 1009C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P364S 1090C>T BRCA-EU 2 204267373 204267373 single base substitution C T missense_variant P370S 1108C>T BRCA-EU 2 204267373 204267373 single base substitution C T upstream_gene_variant BRCA-EU 2 204268107 204268107 single base substitution T C downstream_gene_variant BRCA-EU 2 204268107 204268107 single base substitution T C intron_variant BRCA-EU 2 204268318 204268318 single base substitution C G downstream_gene_variant BRCA-EU 2 204268318 204268318 single base substitution C G intron_variant BRCA-EU 2 204269774 204269774 single base substitution T G downstream_gene_variant BRCA-EU 2 204269774 204269774 single base substitution T G intron_variant BRCA-EU 2 204271640 204271640 single base substitution G T downstream_gene_variant BRCA-EU 2 204271640 204271640 single base substitution G T intron_variant BRCA-EU 2 204275967 204275967 single base substitution G A intron_variant BRCA-EU 2 204277389 204277389 single base substitution G A intron_variant BRCA-EU 2 204279905 204279905 single base substitution G C intron_variant BRCA-EU 2 204280710 204280710 single base substitution C G intron_variant BRCA-EU 2 204281583 204281583 single base substitution G A intron_variant BRCA-EU 2 204282766 204282766 single base substitution G C downstream_gene_variant BRCA-EU 2 204282766 204282766 single base substitution G C intron_variant BRCA-EU 2 204286289 204286289 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 204286289 204286289 deletion of <=200bp T - intron_variant BRCA-EU 2 204286520 204286520 single base substitution C G downstream_gene_variant BRCA-EU 2 204286520 204286520 single base substitution C G intron_variant BRCA-EU 2 204288289 204288289 single base substitution C T intron_variant BRCA-EU 2 204289127 204289144 deletion of <=200bp AAAAATTACTTATCAGGG - intron_variant BRCA-EU 2 204289281 204289281 single base substitution C T intron_variant BRCA-EU 2 204289830 204289830 single base substitution T C intron_variant BRCA-EU 2 204291747 204291747 deletion of <=200bp A - intron_variant BRCA-EU 2 204294413 204294413 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 204294413 204294413 single base substitution G C downstream_gene_variant BRCA-EU 2 204294413 204294413 single base substitution G C intron_variant BRCA-EU 2 204295192 204295192 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 204295192 204295192 single base substitution G A downstream_gene_variant BRCA-EU 2 204295192 204295192 single base substitution G A intron_variant BRCA-EU 2 204296831 204296831 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 204296831 204296831 single base substitution T C downstream_gene_variant BRCA-EU 2 204296831 204296831 single base substitution T C intron_variant BRCA-EU 2 204297922 204297922 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 204297922 204297922 single base substitution G C downstream_gene_variant BRCA-EU 2 204297922 204297922 single base substitution G C intron_variant BRCA-EU 2 204299284 204299284 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 204299284 204299284 single base substitution A C downstream_gene_variant BRCA-EU 2 204299284 204299284 single base substitution A C intron_variant BRCA-EU 2 204299784 204299784 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 204299784 204299784 single base substitution C T downstream_gene_variant BRCA-EU 2 204299784 204299784 single base substitution C T intron_variant BRCA-EU 2 204301259 204301259 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 204301259 204301259 single base substitution A C downstream_gene_variant BRCA-EU 2 204301259 204301259 single base substitution A C intron_variant BRCA-EU 2 204302399 204302399 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 204302399 204302399 single base substitution G A downstream_gene_variant BRCA-EU 2 204303445 204303445 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 204303445 204303445 single base substitution G C downstream_gene_variant BRCA-EU 2 204303796 204303796 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 204303796 204303796 single base substitution G C downstream_gene_variant BRCA-EU 2 204306576 204306576 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 204306576 204306576 single base substitution C G downstream_gene_variant BRCA-EU 2 204307286 204307286 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 204307897 204307897 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 204310257 204310257 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 204314132 204314132 single base substitution G C downstream_gene_variant BRCA-EU 2 204314567 204314567 single base substitution G A downstream_gene_variant BRCA-EU 2 204315897 204315897 single base substitution C G downstream_gene_variant BRCA-EU 2 204317106 204317106 single base substitution A G downstream_gene_variant BRCA-FR 2 204192084 204192084 single base substitution G A upstream_gene_variant BRCA-FR 2 204203796 204203796 single base substitution A T intron_variant BRCA-FR 2 204205719 204205719 single base substitution C G intron_variant BRCA-FR 2 204210576 204210576 single base substitution C G intron_variant BRCA-FR 2 204217833 204217833 single base substitution T A intron_variant BRCA-FR 2 204238865 204238865 single base substitution G A intron_variant BRCA-FR 2 204246922 204246922 single base substitution G A 5_prime_UTR_variant BRCA-FR 2 204246922 204246922 single base substitution G A downstream_gene_variant BRCA-FR 2 204246922 204246922 single base substitution G A exon_variant BRCA-FR 2 204246922 204246922 single base substitution G A intron_variant BRCA-FR 2 204246922 204246922 single base substitution G A missense_variant R158K 473G>A BRCA-FR 2 204254274 204254274 single base substitution C T intron_variant BRCA-FR 2 204254274 204254274 single base substitution C T upstream_gene_variant BRCA-FR 2 204266721 204266721 single base substitution A C intron_variant BRCA-FR 2 204266721 204266721 single base substitution A C upstream_gene_variant BRCA-FR 2 204286508 204286508 single base substitution G A downstream_gene_variant BRCA-FR 2 204286508 204286508 single base substitution G A intron_variant BRCA-FR 2 204288289 204288289 single base substitution C T intron_variant BRCA-FR 2 204294413 204294413 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 204294413 204294413 single base substitution G C downstream_gene_variant BRCA-FR 2 204294413 204294413 single base substitution G C intron_variant BRCA-FR 2 204299784 204299784 single base substitution C T 3_prime_UTR_variant BRCA-FR 2 204299784 204299784 single base substitution C T downstream_gene_variant BRCA-FR 2 204299784 204299784 single base substitution C T intron_variant BRCA-KR 2 204231672 204231672 single base substitution C G 3_prime_UTR_variant BRCA-KR 2 204231672 204231672 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-KR 2 204231672 204231672 single base substitution C G exon_variant BRCA-KR 2 204231672 204231672 single base substitution C G missense_variant L64V 190C>G BRCA-UK 2 204244282 204244282 single base substitution C T downstream_gene_variant BRCA-UK 2 204244282 204244282 single base substitution C T intron_variant BRCA-UK 2 204244282 204244282 single base substitution C T upstream_gene_variant BRCA-UK 2 204292049 204292049 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 204292049 204292049 single base substitution G C downstream_gene_variant BRCA-UK 2 204292049 204292049 single base substitution G C intron_variant BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E285Q 853G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E292Q 874G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E394Q 1180G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E451Q 1351G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E468Q 1402G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E473Q 1417G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E500Q 1498G>C BRCA-UK 2 204292049 204292049 single base substitution G C missense_variant E506Q 1516G>C BRCA-UK 2 204304603 204304603 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 204304603 204304603 single base substitution C T downstream_gene_variant BRCA-UK 2 204308869 204308869 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 204309462 204309462 single base substitution G T 3_prime_UTR_variant BRCA-US 2 204245048 204245048 single base substitution C T 3_prime_UTR_variant BRCA-US 2 204245048 204245048 single base substitution C T downstream_gene_variant BRCA-US 2 204245048 204245048 single base substitution C T exon_variant BRCA-US 2 204245048 204245048 single base substitution C T intron_variant BRCA-US 2 204245048 204245048 single base substitution C T missense_variant R135C 403C>T BRCA-US 2 204245048 204245048 single base substitution C T missense_variant R6C 16C>T BRCA-US 2 204245048 204245048 single base substitution C T missense_variant R90C 268C>T BRCA-US 2 204245048 204245048 single base substitution C T upstream_gene_variant BRCA-US 2 204255823 204255823 single base substitution C G 3_prime_UTR_variant BRCA-US 2 204255823 204255823 single base substitution C G exon_variant BRCA-US 2 204255823 204255823 single base substitution C G intron_variant BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q128E 382C>G BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q14E 40C>G BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q173E 517C>G BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q179E 535C>G BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q19E 55C>G BRCA-US 2 204255823 204255823 single base substitution C G missense_variant Q44E 130C>G BRCA-US 2 204255823 204255823 single base substitution C G upstream_gene_variant BRCA-US 2 204291989 204291989 single base substitution G A 3_prime_UTR_variant BRCA-US 2 204291989 204291989 single base substitution G A downstream_gene_variant BRCA-US 2 204291989 204291989 single base substitution G A exon_variant BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D265N 793G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D272N 814G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D374N 1120G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D431N 1291G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D448N 1342G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D453N 1357G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D480N 1438G>A BRCA-US 2 204291989 204291989 single base substitution G A missense_variant D486N 1456G>A BRCA-US 2 204313535 204313535 single base substitution G A downstream_gene_variant BTCA-JP 2 204216385 204216385 single base substitution G A exon_variant BTCA-JP 2 204216385 204216385 single base substitution G A intron_variant BTCA-JP 2 204247797 204247797 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 204247797 204247797 deletion of <=200bp T - intron_variant BTCA-JP 2 204259817 204259817 deletion of <=200bp A - intron_variant BTCA-JP 2 204261795 204261795 insertion of <=200bp - A intron_variant BTCA-JP 2 204304316 204304316 single base substitution A G 3_prime_UTR_variant BTCA-JP 2 204304316 204304316 single base substitution A G downstream_gene_variant BTCA-JP 2 204304481 204304481 single base substitution C A 3_prime_UTR_variant BTCA-JP 2 204304481 204304481 single base substitution C A downstream_gene_variant CESC-US 2 204292029 204292029 single base substitution T G 3_prime_UTR_variant CESC-US 2 204292029 204292029 single base substitution T G downstream_gene_variant CESC-US 2 204292029 204292029 single base substitution T G intron_variant CESC-US 2 204292029 204292029 single base substitution T G missense_variant L278R 833T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L285R 854T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L387R 1160T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L444R 1331T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L461R 1382T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L466R 1397T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L493R 1478T>G CESC-US 2 204292029 204292029 single base substitution T G missense_variant L499R 1496T>G CESC-US 2 204304738 204304738 single base substitution C A 3_prime_UTR_variant CESC-US 2 204304738 204304738 single base substitution C A downstream_gene_variant CLLE-ES 2 204211477 204211477 single base substitution T C intron_variant CLLE-ES 2 204236454 204236454 single base substitution A G downstream_gene_variant CLLE-ES 2 204236454 204236454 single base substitution A G intron_variant CLLE-ES 2 204246736 204246736 single base substitution A G downstream_gene_variant CLLE-ES 2 204246736 204246736 single base substitution A G intron_variant CLLE-ES 2 204246736 204246736 single base substitution A G upstream_gene_variant CLLE-ES 2 204303946 204303946 single base substitution C A 3_prime_UTR_variant CLLE-ES 2 204303946 204303946 single base substitution C A downstream_gene_variant COAD-US 2 204267312 204267312 single base substitution G A 3_prime_UTR_variant COAD-US 2 204267312 204267312 single base substitution G A exon_variant COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q128Q 384G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q135Q 405G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q152Q 456G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q237Q 711G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q282Q 846G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q294Q 882G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q316Q 948G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q343Q 1029G>A COAD-US 2 204267312 204267312 single base substitution G A synonymous_variant Q349Q 1047G>A COAD-US 2 204267312 204267312 single base substitution G A upstream_gene_variant COAD-US 2 204267450 204267450 single base substitution G T 3_prime_UTR_variant COAD-US 2 204267450 204267450 single base substitution G T downstream_gene_variant COAD-US 2 204267450 204267450 single base substitution G T exon_variant COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q174H 522G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q181H 543G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q198H 594G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q283H 849G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q328H 984G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q340H 1020G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q362H 1086G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q389H 1167G>T COAD-US 2 204267450 204267450 single base substitution G T missense_variant Q395H 1185G>T COAD-US 2 204305010 204305010 single base substitution C T 3_prime_UTR_variant COAD-US 2 204305010 204305010 single base substitution C T downstream_gene_variant COAD-US 2 204305329 204305329 single base substitution C T 3_prime_UTR_variant COAD-US 2 204305329 204305329 single base substitution C T downstream_gene_variant COAD-US 2 204305618 204305618 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 2 204305618 204305618 insertion of <=200bp - G downstream_gene_variant COAD-US 2 204305619 204305619 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 2 204305619 204305619 deletion of <=200bp G - downstream_gene_variant COAD-US 2 204305775 204305775 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 2 204305775 204305775 deletion of <=200bp G - downstream_gene_variant COAD-US 2 204305972 204305972 single base substitution G A 3_prime_UTR_variant COAD-US 2 204305972 204305972 single base substitution G A downstream_gene_variant COCA-CN 2 204231515 204231515 single base substitution C T intron_variant COCA-CN 2 204231528 204231528 single base substitution T G intron_variant COCA-CN 2 204240892 204240892 single base substitution C A downstream_gene_variant COCA-CN 2 204240892 204240892 single base substitution C A intron_variant COCA-CN 2 204240892 204240892 single base substitution C A upstream_gene_variant COCA-CN 2 204244852 204244852 single base substitution C A downstream_gene_variant COCA-CN 2 204244852 204244852 single base substitution C A intron_variant COCA-CN 2 204244852 204244852 single base substitution C A upstream_gene_variant COCA-CN 2 204244900 204244900 single base substitution T C downstream_gene_variant COCA-CN 2 204244900 204244900 single base substitution T C intron_variant COCA-CN 2 204244900 204244900 single base substitution T C upstream_gene_variant COCA-CN 2 204244999 204244999 single base substitution T G 3_prime_UTR_variant COCA-CN 2 204244999 204244999 single base substitution T G downstream_gene_variant COCA-CN 2 204244999 204244999 single base substitution T G exon_variant COCA-CN 2 204244999 204244999 single base substitution T G intron_variant COCA-CN 2 204244999 204244999 single base substitution T G synonymous_variant T118T 354T>G COCA-CN 2 204244999 204244999 single base substitution T G synonymous_variant T73T 219T>G COCA-CN 2 204244999 204244999 single base substitution T G upstream_gene_variant COCA-CN 2 204255802 204255802 single base substitution C T 3_prime_UTR_variant COCA-CN 2 204255802 204255802 single base substitution C T exon_variant COCA-CN 2 204255802 204255802 single base substitution C T intron_variant COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P121S 361C>T COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P12S 34C>T COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P166S 496C>T COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P172S 514C>T COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P37S 109C>T COCA-CN 2 204255802 204255802 single base substitution C T missense_variant P7S 19C>T COCA-CN 2 204255802 204255802 single base substitution C T upstream_gene_variant COCA-CN 2 204255804 204255804 single base substitution G A 3_prime_UTR_variant COCA-CN 2 204255804 204255804 single base substitution G A exon_variant COCA-CN 2 204255804 204255804 single base substitution G A intron_variant COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P121P 363G>A COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P12P 36G>A COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P166P 498G>A COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P172P 516G>A COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P37P 111G>A COCA-CN 2 204255804 204255804 single base substitution G A synonymous_variant P7P 21G>A COCA-CN 2 204255804 204255804 single base substitution G A upstream_gene_variant COCA-CN 2 204261435 204261435 single base substitution T C intron_variant COCA-CN 2 204268095 204268095 single base substitution T G downstream_gene_variant COCA-CN 2 204268095 204268095 single base substitution T G intron_variant COCA-CN 2 204291973 204291973 single base substitution C A 3_prime_UTR_variant COCA-CN 2 204291973 204291973 single base substitution C A downstream_gene_variant COCA-CN 2 204291973 204291973 single base substitution C A exon_variant COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V259V 777C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V266V 798C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V368V 1104C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V425V 1275C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V442V 1326C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V447V 1341C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V474V 1422C>A COCA-CN 2 204291973 204291973 single base substitution C A synonymous_variant V480V 1440C>A COCA-CN 2 204304302 204304302 single base substitution G T 3_prime_UTR_variant COCA-CN 2 204304302 204304302 single base substitution G T downstream_gene_variant COCA-CN 2 204304370 204304370 single base substitution G A 3_prime_UTR_variant COCA-CN 2 204304370 204304370 single base substitution G A downstream_gene_variant COCA-CN 2 204309562 204309562 single base substitution T G 3_prime_UTR_variant COCA-CN 2 204313368 204313368 single base substitution A G downstream_gene_variant COCA-CN 2 204313400 204313400 single base substitution C T downstream_gene_variant ESAD-UK 2 204188817 204188817 single base substitution G T upstream_gene_variant ESAD-UK 2 204189307 204189307 single base substitution A C upstream_gene_variant ESAD-UK 2 204189482 204189482 single base substitution G A upstream_gene_variant ESAD-UK 2 204190569 204190569 single base substitution G C upstream_gene_variant ESAD-UK 2 204192937 204192937 single base substitution A G upstream_gene_variant ESAD-UK 2 204193067 204193067 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 204193067 204193067 single base substitution C T upstream_gene_variant ESAD-UK 2 204194645 204194645 single base substitution A C intron_variant ESAD-UK 2 204194941 204194941 single base substitution T G intron_variant ESAD-UK 2 204195982 204195982 single base substitution G T intron_variant ESAD-UK 2 204197078 204197078 single base substitution G A intron_variant ESAD-UK 2 204198671 204198671 single base substitution T C intron_variant ESAD-UK 2 204199729 204199729 single base substitution G A intron_variant ESAD-UK 2 204200139 204200139 single base substitution C T intron_variant ESAD-UK 2 204201247 204201247 single base substitution T G intron_variant ESAD-UK 2 204207980 204207980 single base substitution G A intron_variant ESAD-UK 2 204208094 204208094 single base substitution A T intron_variant ESAD-UK 2 204208470 204208470 single base substitution T C intron_variant ESAD-UK 2 204210185 204210185 single base substitution A G intron_variant ESAD-UK 2 204211272 204211272 single base substitution T C intron_variant ESAD-UK 2 204215621 204215621 single base substitution G A intron_variant ESAD-UK 2 204217069 204217069 insertion of <=200bp - A intron_variant ESAD-UK 2 204217076 204217076 single base substitution A G intron_variant ESAD-UK 2 204217438 204217438 single base substitution A T intron_variant ESAD-UK 2 204220632 204220632 single base substitution G A intron_variant ESAD-UK 2 204223212 204223212 single base substitution T A intron_variant ESAD-UK 2 204223832 204223832 single base substitution T A intron_variant ESAD-UK 2 204223977 204223977 single base substitution T A intron_variant ESAD-UK 2 204226488 204226488 single base substitution C A intron_variant ESAD-UK 2 204227818 204227818 single base substitution T G intron_variant ESAD-UK 2 204227934 204227934 single base substitution G C intron_variant ESAD-UK 2 204228368 204228368 single base substitution C T intron_variant ESAD-UK 2 204231606 204231606 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 204231606 204231606 single base substitution G T 5_prime_UTR_variant ESAD-UK 2 204231606 204231606 single base substitution G T exon_variant ESAD-UK 2 204231606 204231606 single base substitution G T missense_variant D42Y 124G>T ESAD-UK 2 204231606 204231606 single base substitution G T splice_acceptor_variant ESAD-UK 2 204231732 204231732 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 204231732 204231732 single base substitution C T downstream_gene_variant ESAD-UK 2 204231732 204231732 single base substitution C T exon_variant ESAD-UK 2 204231732 204231732 single base substitution C T intron_variant ESAD-UK 2 204231732 204231732 single base substitution C T stop_gained R84* 250C>T ESAD-UK 2 204231732 204231732 single base substitution C T synonymous_variant Y13Y 39C>T ESAD-UK 2 204232439 204232439 single base substitution A T downstream_gene_variant ESAD-UK 2 204232439 204232439 single base substitution A T intron_variant ESAD-UK 2 204234671 204234671 single base substitution C G downstream_gene_variant ESAD-UK 2 204234671 204234671 single base substitution C G intron_variant ESAD-UK 2 204235823 204235823 single base substitution G C downstream_gene_variant ESAD-UK 2 204235823 204235823 single base substitution G C intron_variant ESAD-UK 2 204236427 204236427 single base substitution C T downstream_gene_variant ESAD-UK 2 204236427 204236427 single base substitution C T intron_variant ESAD-UK 2 204240305 204240305 single base substitution A C intron_variant ESAD-UK 2 204240305 204240305 single base substitution A C upstream_gene_variant ESAD-UK 2 204240810 204240810 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 204240810 204240810 single base substitution T G intron_variant ESAD-UK 2 204240810 204240810 single base substitution T G synonymous_variant T35T 105T>G ESAD-UK 2 204240810 204240810 single base substitution T G upstream_gene_variant ESAD-UK 2 204242790 204242790 single base substitution C T downstream_gene_variant ESAD-UK 2 204242790 204242790 single base substitution C T intron_variant ESAD-UK 2 204242790 204242790 single base substitution C T upstream_gene_variant ESAD-UK 2 204243384 204243384 single base substitution T G downstream_gene_variant ESAD-UK 2 204243384 204243384 single base substitution T G intron_variant ESAD-UK 2 204243384 204243384 single base substitution T G upstream_gene_variant ESAD-UK 2 204243429 204243429 single base substitution G A downstream_gene_variant ESAD-UK 2 204243429 204243429 single base substitution G A intron_variant ESAD-UK 2 204243429 204243429 single base substitution G A upstream_gene_variant ESAD-UK 2 204244265 204244265 single base substitution T C downstream_gene_variant ESAD-UK 2 204244265 204244265 single base substitution T C intron_variant ESAD-UK 2 204244265 204244265 single base substitution T C upstream_gene_variant ESAD-UK 2 204246429 204246429 single base substitution G A downstream_gene_variant ESAD-UK 2 204246429 204246429 single base substitution G A intron_variant ESAD-UK 2 204246429 204246429 single base substitution G A upstream_gene_variant ESAD-UK 2 204247474 204247474 single base substitution T G downstream_gene_variant ESAD-UK 2 204247474 204247474 single base substitution T G intron_variant ESAD-UK 2 204249955 204249955 single base substitution C T downstream_gene_variant ESAD-UK 2 204249955 204249955 single base substitution C T intron_variant ESAD-UK 2 204249976 204249976 single base substitution T C downstream_gene_variant ESAD-UK 2 204249976 204249976 single base substitution T C intron_variant ESAD-UK 2 204250766 204250766 single base substitution C G downstream_gene_variant ESAD-UK 2 204250766 204250766 single base substitution C G intron_variant ESAD-UK 2 204250825 204250825 single base substitution G C downstream_gene_variant ESAD-UK 2 204250825 204250825 single base substitution G C intron_variant ESAD-UK 2 204250825 204250825 single base substitution G C upstream_gene_variant ESAD-UK 2 204255806 204255806 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 204255806 204255806 single base substitution G A exon_variant ESAD-UK 2 204255806 204255806 single base substitution G A intron_variant ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R122H 365G>A ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R13H 38G>A ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R167H 500G>A ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R173H 518G>A ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R38H 113G>A ESAD-UK 2 204255806 204255806 single base substitution G A missense_variant R8H 23G>A ESAD-UK 2 204255806 204255806 single base substitution G A upstream_gene_variant ESAD-UK 2 204256265 204256265 single base substitution G T intron_variant ESAD-UK 2 204256265 204256265 single base substitution G T upstream_gene_variant ESAD-UK 2 204257701 204257701 single base substitution A T intron_variant ESAD-UK 2 204257701 204257701 single base substitution A T upstream_gene_variant ESAD-UK 2 204257784 204257784 insertion of <=200bp - T intron_variant ESAD-UK 2 204257784 204257784 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 204259847 204259847 single base substitution G A intron_variant ESAD-UK 2 204260203 204260209 deletion of <=200bp CACACAT - intron_variant ESAD-UK 2 204263744 204263744 insertion of <=200bp - T intron_variant ESAD-UK 2 204263744 204263744 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 204265038 204265038 single base substitution C T intron_variant ESAD-UK 2 204265038 204265038 single base substitution C T upstream_gene_variant ESAD-UK 2 204266433 204266433 single base substitution A G intron_variant ESAD-UK 2 204266433 204266433 single base substitution A G upstream_gene_variant ESAD-UK 2 204268476 204268476 single base substitution T G downstream_gene_variant ESAD-UK 2 204268476 204268476 single base substitution T G intron_variant ESAD-UK 2 204270438 204270438 single base substitution T G downstream_gene_variant ESAD-UK 2 204270438 204270438 single base substitution T G intron_variant ESAD-UK 2 204270439 204270439 insertion of <=200bp - G downstream_gene_variant ESAD-UK 2 204270439 204270439 insertion of <=200bp - G intron_variant ESAD-UK 2 204271030 204271030 single base substitution A G downstream_gene_variant ESAD-UK 2 204271030 204271030 single base substitution A G intron_variant ESAD-UK 2 204274423 204274423 single base substitution G A intron_variant ESAD-UK 2 204279021 204279021 single base substitution C T intron_variant ESAD-UK 2 204279263 204279263 single base substitution C T intron_variant ESAD-UK 2 204281386 204281386 single base substitution A G intron_variant ESAD-UK 2 204282665 204282665 single base substitution G A downstream_gene_variant ESAD-UK 2 204282665 204282665 single base substitution G A intron_variant ESAD-UK 2 204284034 204284034 single base substitution G A downstream_gene_variant ESAD-UK 2 204284034 204284034 single base substitution G A intron_variant ESAD-UK 2 204285855 204285855 single base substitution C A downstream_gene_variant ESAD-UK 2 204285855 204285855 single base substitution C A intron_variant ESAD-UK 2 204286807 204286807 single base substitution C T intron_variant ESAD-UK 2 204287420 204287420 insertion of <=200bp - TT intron_variant ESAD-UK 2 204293892 204293892 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 204293892 204293892 single base substitution A G downstream_gene_variant ESAD-UK 2 204293892 204293892 single base substitution A G intron_variant ESAD-UK 2 204295128 204295128 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 2 204295128 204295128 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 204295128 204295128 deletion of <=200bp A - intron_variant ESAD-UK 2 204295612 204295612 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 204295612 204295612 single base substitution T G downstream_gene_variant ESAD-UK 2 204295612 204295612 single base substitution T G intron_variant ESAD-UK 2 204295710 204295710 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 204295710 204295710 single base substitution C T downstream_gene_variant ESAD-UK 2 204295710 204295710 single base substitution C T intron_variant ESAD-UK 2 204296476 204296476 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 2 204296476 204296476 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 204296476 204296476 insertion of <=200bp - T intron_variant ESAD-UK 2 204298253 204298253 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 204298253 204298253 single base substitution C T downstream_gene_variant ESAD-UK 2 204298253 204298253 single base substitution C T intron_variant ESAD-UK 2 204298267 204298267 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 204298267 204298267 single base substitution G A downstream_gene_variant ESAD-UK 2 204298267 204298267 single base substitution G A intron_variant ESAD-UK 2 204299521 204299521 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 204299521 204299521 single base substitution A G downstream_gene_variant ESAD-UK 2 204299521 204299521 single base substitution A G intron_variant ESAD-UK 2 204304424 204304424 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 204304424 204304424 single base substitution A C downstream_gene_variant ESAD-UK 2 204305353 204305353 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 204305353 204305353 single base substitution G A downstream_gene_variant ESAD-UK 2 204306178 204306178 insertion of <=200bp - AACAAACAA 3_prime_UTR_variant ESAD-UK 2 204306178 204306178 insertion of <=200bp - AACAAACAA downstream_gene_variant ESAD-UK 2 204308037 204308037 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 204310808 204310808 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 204314961 204314961 single base substitution A G downstream_gene_variant ESAD-UK 2 204316343 204316343 single base substitution G T downstream_gene_variant ESCA-CN 2 204219883 204219883 single base substitution C T exon_variant ESCA-CN 2 204219883 204219883 single base substitution C T intron_variant ESCA-CN 2 204245033 204245033 single base substitution C A 3_prime_UTR_variant ESCA-CN 2 204245033 204245033 single base substitution C A downstream_gene_variant ESCA-CN 2 204245033 204245033 single base substitution C A exon_variant ESCA-CN 2 204245033 204245033 single base substitution C A intron_variant ESCA-CN 2 204245033 204245033 single base substitution C A missense_variant L130I 388C>A ESCA-CN 2 204245033 204245033 single base substitution C A missense_variant L1I 1C>A ESCA-CN 2 204245033 204245033 single base substitution C A missense_variant L85I 253C>A ESCA-CN 2 204245033 204245033 single base substitution C A upstream_gene_variant ESCA-CN 2 204261723 204261723 single base substitution G C intron_variant ESCA-CN 2 204305768 204305768 single base substitution A G 3_prime_UTR_variant ESCA-CN 2 204305768 204305768 single base substitution A G downstream_gene_variant ESCA-CN 2 204306002 204306002 single base substitution A G 3_prime_UTR_variant ESCA-CN 2 204306002 204306002 single base substitution A G downstream_gene_variant GBM-US 2 204260428 204260428 single base substitution C T 3_prime_UTR_variant GBM-US 2 204260428 204260428 single base substitution C T exon_variant GBM-US 2 204260428 204260428 single base substitution C T intron_variant GBM-US 2 204260428 204260428 single base substitution C T stop_gained R123* 367C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R204* 610C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R208* 622C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R253* 757C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R259* 775C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R45* 133C>T GBM-US 2 204260428 204260428 single base substitution C T stop_gained R99* 295C>T KIRC-US 2 204259531 204259531 single base substitution G T 3_prime_UTR_variant KIRC-US 2 204259531 204259531 single base substitution G T exon_variant KIRC-US 2 204259531 204259531 single base substitution G T intron_variant KIRC-US 2 204259531 204259531 single base substitution G T synonymous_variant V178V 534G>T KIRC-US 2 204259531 204259531 single base substitution G T synonymous_variant V223V 669G>T KIRC-US 2 204259531 204259531 single base substitution G T synonymous_variant V229V 687G>T KIRC-US 2 204259531 204259531 single base substitution G T synonymous_variant V69V 207G>T KIRC-US 2 204259531 204259531 single base substitution G T synonymous_variant V94V 282G>T KIRC-US 2 204267389 204267389 single base substitution C A 3_prime_UTR_variant KIRC-US 2 204267389 204267389 single base substitution C A exon_variant KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P154H 461C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P161H 482C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P178H 533C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P263H 788C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P308H 923C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P320H 959C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P342H 1025C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P369H 1106C>A KIRC-US 2 204267389 204267389 single base substitution C A missense_variant P375H 1124C>A KIRC-US 2 204267389 204267389 single base substitution C A upstream_gene_variant KIRC-US 2 204281636 204281636 single base substitution G T 3_prime_UTR_variant KIRC-US 2 204281636 204281636 single base substitution G T exon_variant KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D179Y 535G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D186Y 556G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D288Y 862G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D345Y 1033G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D362Y 1084G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D367Y 1099G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D394Y 1180G>T KIRC-US 2 204281636 204281636 single base substitution G T missense_variant D400Y 1198G>T KIRC-US 2 204305222 204305222 single base substitution T A 3_prime_UTR_variant KIRC-US 2 204305222 204305222 single base substitution T A downstream_gene_variant KIRP-US 2 204304774 204304775 deletion of <=200bp AC - 3_prime_UTR_variant KIRP-US 2 204304774 204304775 deletion of <=200bp AC - downstream_gene_variant KIRP-US 2 204304798 204304798 single base substitution C G 3_prime_UTR_variant KIRP-US 2 204304798 204304798 single base substitution C G downstream_gene_variant KIRP-US 2 204304841 204304841 single base substitution G A 3_prime_UTR_variant KIRP-US 2 204304841 204304841 single base substitution G A downstream_gene_variant KIRP-US 2 204305768 204305768 single base substitution A G 3_prime_UTR_variant KIRP-US 2 204305768 204305768 single base substitution A G downstream_gene_variant KIRP-US 2 204305855 204305855 single base substitution C T 3_prime_UTR_variant KIRP-US 2 204305855 204305855 single base substitution C T downstream_gene_variant LAML-KR 2 204204327 204204327 single base substitution G A intron_variant LAML-KR 2 204213813 204213813 single base substitution A T intron_variant LAML-KR 2 204222834 204222834 single base substitution G T intron_variant LAML-KR 2 204238004 204238004 single base substitution C T intron_variant LGG-US 2 204304519 204304519 single base substitution G A 3_prime_UTR_variant LGG-US 2 204304519 204304519 single base substitution G A downstream_gene_variant LGG-US 2 204305768 204305768 single base substitution A G 3_prime_UTR_variant LGG-US 2 204305768 204305768 single base substitution A G downstream_gene_variant LICA-CN 2 204231741 204231741 single base substitution G T 3_prime_UTR_variant LICA-CN 2 204231741 204231741 single base substitution G T downstream_gene_variant LICA-CN 2 204231741 204231741 single base substitution G T exon_variant LICA-CN 2 204231741 204231741 single base substitution G T intron_variant LICA-CN 2 204231741 204231741 single base substitution G T missense_variant W16C 48G>T LICA-CN 2 204231741 204231741 single base substitution G T stop_gained E87* 259G>T LICA-FR 2 204193288 204193288 single base substitution G C 5_prime_UTR_variant LICA-FR 2 204193288 204193288 single base substitution G C exon_variant LICA-FR 2 204193288 204193288 single base substitution G C synonymous_variant R17R 51G>C LICA-FR 2 204193299 204193299 single base substitution A G 5_prime_UTR_variant LICA-FR 2 204193299 204193299 single base substitution A G exon_variant LICA-FR 2 204193299 204193299 single base substitution A G missense_variant D21G 62A>G LICA-FR 2 204195116 204195117 deletion of <=200bp AA - intron_variant LICA-FR 2 204204414 204204414 single base substitution A G intron_variant LICA-FR 2 204210873 204210873 insertion of <=200bp - A intron_variant LICA-FR 2 204210977 204210977 single base substitution G A intron_variant LICA-FR 2 204231700 204231700 single base substitution T G 3_prime_UTR_variant LICA-FR 2 204231700 204231700 single base substitution T G downstream_gene_variant LICA-FR 2 204231700 204231700 single base substitution T G exon_variant LICA-FR 2 204231700 204231700 single base substitution T G missense_variant C3G 7T>G LICA-FR 2 204231700 204231700 single base substitution T G missense_variant L73R 218T>G LICA-FR 2 204241051 204241051 single base substitution C T downstream_gene_variant LICA-FR 2 204241051 204241051 single base substitution C T intron_variant LICA-FR 2 204241051 204241051 single base substitution C T upstream_gene_variant LICA-FR 2 204260172 204260172 insertion of <=200bp - ATACACACAC intron_variant LICA-FR 2 204279112 204279112 single base substitution T A intron_variant LICA-FR 2 204279115 204279115 single base substitution C G intron_variant LICA-FR 2 204286688 204286688 deletion of <=200bp A - downstream_gene_variant LICA-FR 2 204286688 204286688 deletion of <=200bp A - intron_variant LICA-FR 2 204304254 204304254 single base substitution C A 3_prime_UTR_variant LICA-FR 2 204304254 204304254 single base substitution C A downstream_gene_variant LICA-FR 2 204304491 204304491 single base substitution T A 3_prime_UTR_variant LICA-FR 2 204304491 204304491 single base substitution T A downstream_gene_variant LIHC-US 2 204193320 204193320 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 2 204193320 204193320 single base substitution G T exon_variant LIHC-US 2 204193320 204193320 single base substitution G T missense_variant R28L 83G>T LIHC-US 2 204304792 204304792 single base substitution G A 3_prime_UTR_variant LIHC-US 2 204304792 204304792 single base substitution G A downstream_gene_variant LINC-JP 2 204192950 204192950 single base substitution G T 5_prime_UTR_variant LINC-JP 2 204192950 204192950 single base substitution G T upstream_gene_variant LINC-JP 2 204212195 204212195 single base substitution A C intron_variant LINC-JP 2 204219849 204219849 single base substitution A G intron_variant LINC-JP 2 204227884 204227884 single base substitution A T intron_variant LINC-JP 2 204231577 204231577 single base substitution C A intron_variant LINC-JP 2 204235110 204235110 single base substitution A G downstream_gene_variant LINC-JP 2 204235110 204235110 single base substitution A G intron_variant LINC-JP 2 204241492 204241492 single base substitution G A downstream_gene_variant LINC-JP 2 204241492 204241492 single base substitution G A intron_variant LINC-JP 2 204241492 204241492 single base substitution G A upstream_gene_variant LINC-JP 2 204247856 204247856 single base substitution A G downstream_gene_variant LINC-JP 2 204247856 204247856 single base substitution A G intron_variant LINC-JP 2 204248070 204248070 single base substitution A G downstream_gene_variant LINC-JP 2 204248070 204248070 single base substitution A G intron_variant LINC-JP 2 204261556 204261556 single base substitution C T exon_variant LINC-JP 2 204261556 204261556 single base substitution C T intron_variant LINC-JP 2 204261556 204261556 single base substitution C T missense_variant S245F 734C>T LINC-JP 2 204261556 204261556 single base substitution C T missense_variant S294F 881C>T LINC-JP 2 204261556 204261556 single base substitution C T missense_variant S300F 899C>T LINC-JP 2 204261556 204261556 single base substitution C T missense_variant S86F 257C>T LINC-JP 2 204268897 204268897 single base substitution A C downstream_gene_variant LINC-JP 2 204268897 204268897 single base substitution A C intron_variant LINC-JP 2 204292384 204292384 single base substitution A C 3_prime_UTR_variant LINC-JP 2 204292384 204292384 single base substitution A C downstream_gene_variant LINC-JP 2 204292384 204292384 single base substitution A C intron_variant LINC-JP 2 204295502 204295502 single base substitution A G 3_prime_UTR_variant LINC-JP 2 204295502 204295502 single base substitution A G downstream_gene_variant LINC-JP 2 204295502 204295502 single base substitution A G intron_variant LINC-JP 2 204295762 204295762 single base substitution G A 3_prime_UTR_variant LINC-JP 2 204295762 204295762 single base substitution G A downstream_gene_variant LINC-JP 2 204295762 204295762 single base substitution G A intron_variant LINC-JP 2 204297410 204297410 single base substitution T G 3_prime_UTR_variant LINC-JP 2 204297410 204297410 single base substitution T G downstream_gene_variant LINC-JP 2 204297410 204297410 single base substitution T G intron_variant LINC-JP 2 204298662 204298662 single base substitution T C 3_prime_UTR_variant LINC-JP 2 204298662 204298662 single base substitution T C downstream_gene_variant LINC-JP 2 204298662 204298662 single base substitution T C intron_variant LINC-JP 2 204302698 204302698 single base substitution G T 3_prime_UTR_variant LINC-JP 2 204302698 204302698 single base substitution G T downstream_gene_variant LINC-JP 2 204304417 204304417 single base substitution G A 3_prime_UTR_variant LINC-JP 2 204304417 204304417 single base substitution G A downstream_gene_variant LINC-JP 2 204304568 204304568 single base substitution T C 3_prime_UTR_variant LINC-JP 2 204304568 204304568 single base substitution T C downstream_gene_variant LINC-JP 2 204307016 204307016 single base substitution T C 3_prime_UTR_variant LINC-JP 2 204310807 204310807 single base substitution T C 3_prime_UTR_variant LINC-JP 2 204310813 204310813 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 204189280 204189280 single base substitution C T upstream_gene_variant LIRI-JP 2 204189839 204189839 single base substitution A C upstream_gene_variant LIRI-JP 2 204192909 204192909 single base substitution C G upstream_gene_variant LIRI-JP 2 204194818 204194818 single base substitution C T intron_variant LIRI-JP 2 204196893 204196893 single base substitution G T intron_variant LIRI-JP 2 204198030 204198030 single base substitution A G intron_variant LIRI-JP 2 204199961 204199961 single base substitution A G intron_variant LIRI-JP 2 204200038 204200038 single base substitution G A intron_variant LIRI-JP 2 204201763 204201763 single base substitution A T intron_variant LIRI-JP 2 204203588 204203588 single base substitution G A intron_variant LIRI-JP 2 204204269 204204269 single base substitution A T intron_variant LIRI-JP 2 204205401 204205401 single base substitution T C intron_variant LIRI-JP 2 204207695 204207695 single base substitution T C intron_variant LIRI-JP 2 204208625 204208625 single base substitution G A intron_variant LIRI-JP 2 204209281 204209281 single base substitution G T intron_variant LIRI-JP 2 204214728 204214728 single base substitution T A intron_variant LIRI-JP 2 204219549 204219549 single base substitution G C intron_variant LIRI-JP 2 204221218 204221218 single base substitution A G intron_variant LIRI-JP 2 204223524 204223524 single base substitution T C intron_variant LIRI-JP 2 204225355 204225355 single base substitution C T intron_variant LIRI-JP 2 204228683 204228683 single base substitution T C intron_variant LIRI-JP 2 204230123 204230123 single base substitution A G intron_variant LIRI-JP 2 204230291 204230291 single base substitution A G intron_variant LIRI-JP 2 204232312 204232312 single base substitution T G downstream_gene_variant LIRI-JP 2 204232312 204232312 single base substitution T G intron_variant LIRI-JP 2 204234564 204234564 single base substitution G C downstream_gene_variant LIRI-JP 2 204234564 204234564 single base substitution G C intron_variant LIRI-JP 2 204234869 204234869 single base substitution A G downstream_gene_variant LIRI-JP 2 204234869 204234869 single base substitution A G intron_variant LIRI-JP 2 204241339 204241339 single base substitution T C downstream_gene_variant LIRI-JP 2 204241339 204241339 single base substitution T C intron_variant LIRI-JP 2 204241339 204241339 single base substitution T C upstream_gene_variant LIRI-JP 2 204248341 204248341 single base substitution G A downstream_gene_variant LIRI-JP 2 204248341 204248341 single base substitution G A intron_variant LIRI-JP 2 204249063 204249063 single base substitution T G downstream_gene_variant LIRI-JP 2 204249063 204249063 single base substitution T G intron_variant LIRI-JP 2 204252085 204252085 single base substitution G C downstream_gene_variant LIRI-JP 2 204252085 204252085 single base substitution G C intron_variant LIRI-JP 2 204252085 204252085 single base substitution G C upstream_gene_variant LIRI-JP 2 204252459 204252459 single base substitution T G downstream_gene_variant LIRI-JP 2 204252459 204252459 single base substitution T G intron_variant LIRI-JP 2 204252459 204252459 single base substitution T G upstream_gene_variant LIRI-JP 2 204253378 204253378 single base substitution T C intron_variant LIRI-JP 2 204253378 204253378 single base substitution T C upstream_gene_variant LIRI-JP 2 204256236 204256236 single base substitution A T intron_variant LIRI-JP 2 204256236 204256236 single base substitution A T upstream_gene_variant LIRI-JP 2 204257409 204257409 single base substitution T C intron_variant LIRI-JP 2 204257409 204257409 single base substitution T C upstream_gene_variant LIRI-JP 2 204257813 204257813 single base substitution C T intron_variant LIRI-JP 2 204257813 204257813 single base substitution C T upstream_gene_variant LIRI-JP 2 204259155 204259156 deletion of <=200bp AG - intron_variant LIRI-JP 2 204259155 204259156 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 2 204263372 204263372 single base substitution C T intron_variant LIRI-JP 2 204263372 204263372 single base substitution C T upstream_gene_variant LIRI-JP 2 204266308 204266308 insertion of <=200bp - ATTG intron_variant LIRI-JP 2 204266308 204266308 insertion of <=200bp - ATTG upstream_gene_variant LIRI-JP 2 204269005 204269005 single base substitution A G downstream_gene_variant LIRI-JP 2 204269005 204269005 single base substitution A G intron_variant LIRI-JP 2 204271529 204271529 single base substitution G T downstream_gene_variant LIRI-JP 2 204271529 204271529 single base substitution G T intron_variant LIRI-JP 2 204271930 204271930 single base substitution G C downstream_gene_variant LIRI-JP 2 204271930 204271930 single base substitution G C intron_variant LIRI-JP 2 204273156 204273156 single base substitution G A intron_variant LIRI-JP 2 204276009 204276009 single base substitution A G intron_variant LIRI-JP 2 204276009 204276009 single base substitution A G splice_region_variant LIRI-JP 2 204277058 204277065 deletion of <=200bp GTCCCTGC - intron_variant LIRI-JP 2 204278656 204278661 deletion of <=200bp TGTTAT - intron_variant LIRI-JP 2 204280943 204280943 single base substitution C T intron_variant LIRI-JP 2 204281738 204281738 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 204281738 204281738 single base substitution G A downstream_gene_variant LIRI-JP 2 204281738 204281738 single base substitution G A exon_variant LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V213I 637G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V220I 658G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V322I 964G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V379I 1135G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V396I 1186G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V401I 1201G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V428I 1282G>A LIRI-JP 2 204281738 204281738 single base substitution G A missense_variant V434I 1300G>A LIRI-JP 2 204281939 204281939 single base substitution T C downstream_gene_variant LIRI-JP 2 204281939 204281939 single base substitution T C intron_variant LIRI-JP 2 204285007 204285007 single base substitution C G downstream_gene_variant LIRI-JP 2 204285007 204285007 single base substitution C G intron_variant LIRI-JP 2 204286668 204286668 single base substitution A G downstream_gene_variant LIRI-JP 2 204286668 204286668 single base substitution A G intron_variant LIRI-JP 2 204289566 204289566 single base substitution T C intron_variant LIRI-JP 2 204292021 204292021 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 204292021 204292021 single base substitution G A downstream_gene_variant LIRI-JP 2 204292021 204292021 single base substitution G A intron_variant LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V275V 825G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V282V 846G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V384V 1152G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V441V 1323G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V458V 1374G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V463V 1389G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V490V 1470G>A LIRI-JP 2 204292021 204292021 single base substitution G A synonymous_variant V496V 1488G>A LIRI-JP 2 204294467 204294467 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 204294467 204294467 single base substitution A G downstream_gene_variant LIRI-JP 2 204294467 204294467 single base substitution A G intron_variant LIRI-JP 2 204295080 204295080 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 204295080 204295080 single base substitution T A downstream_gene_variant LIRI-JP 2 204295080 204295080 single base substitution T A intron_variant LIRI-JP 2 204295161 204295161 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 204295161 204295161 single base substitution T G downstream_gene_variant LIRI-JP 2 204295161 204295161 single base substitution T G intron_variant LIRI-JP 2 204295206 204295206 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204295206 204295206 single base substitution T C downstream_gene_variant LIRI-JP 2 204295206 204295206 single base substitution T C intron_variant LIRI-JP 2 204295382 204295401 deletion of <=200bp TGCTGTTCCCATTTTAGAGT - 3_prime_UTR_variant LIRI-JP 2 204295382 204295401 deletion of <=200bp TGCTGTTCCCATTTTAGAGT - downstream_gene_variant LIRI-JP 2 204295382 204295401 deletion of <=200bp TGCTGTTCCCATTTTAGAGT - intron_variant LIRI-JP 2 204296056 204296056 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204296056 204296056 single base substitution T C downstream_gene_variant LIRI-JP 2 204296056 204296056 single base substitution T C intron_variant LIRI-JP 2 204296076 204296076 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 204296076 204296076 single base substitution A C downstream_gene_variant LIRI-JP 2 204296076 204296076 single base substitution A C intron_variant LIRI-JP 2 204296559 204296559 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 204296559 204296559 single base substitution T G downstream_gene_variant LIRI-JP 2 204296559 204296559 single base substitution T G intron_variant LIRI-JP 2 204297091 204297091 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 204297091 204297091 single base substitution G T downstream_gene_variant LIRI-JP 2 204297091 204297091 single base substitution G T intron_variant LIRI-JP 2 204297165 204297165 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 204297165 204297165 single base substitution T G downstream_gene_variant LIRI-JP 2 204297165 204297165 single base substitution T G intron_variant LIRI-JP 2 204297573 204297573 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204297573 204297573 single base substitution T C downstream_gene_variant LIRI-JP 2 204297573 204297573 single base substitution T C intron_variant LIRI-JP 2 204298291 204298291 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 204298291 204298291 single base substitution C T downstream_gene_variant LIRI-JP 2 204298291 204298291 single base substitution C T intron_variant LIRI-JP 2 204298476 204298476 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 204298476 204298476 single base substitution G A downstream_gene_variant LIRI-JP 2 204298476 204298476 single base substitution G A intron_variant LIRI-JP 2 204299013 204299013 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 204299013 204299013 single base substitution A G downstream_gene_variant LIRI-JP 2 204299013 204299013 single base substitution A G intron_variant LIRI-JP 2 204299419 204299419 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 204299419 204299419 single base substitution G C downstream_gene_variant LIRI-JP 2 204299419 204299419 single base substitution G C intron_variant LIRI-JP 2 204299488 204299488 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204299488 204299488 single base substitution T C downstream_gene_variant LIRI-JP 2 204299488 204299488 single base substitution T C intron_variant LIRI-JP 2 204299520 204299520 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 2 204299520 204299520 insertion of <=200bp - T downstream_gene_variant LIRI-JP 2 204299520 204299520 insertion of <=200bp - T intron_variant LIRI-JP 2 204300183 204300183 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204300183 204300183 single base substitution T C downstream_gene_variant LIRI-JP 2 204300183 204300183 single base substitution T C intron_variant LIRI-JP 2 204302161 204302161 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 204302161 204302161 single base substitution A G downstream_gene_variant LIRI-JP 2 204302538 204302538 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 2 204302538 204302538 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 204304857 204304857 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 204304857 204304857 single base substitution G A downstream_gene_variant LIRI-JP 2 204307059 204307062 deletion of <=200bp ACCC - 3_prime_UTR_variant LIRI-JP 2 204307113 204307120 deletion of <=200bp AGGATCCA - 3_prime_UTR_variant LIRI-JP 2 204308487 204308487 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 204309732 204309733 deletion of <=200bp CT - 3_prime_UTR_variant LIRI-JP 2 204312266 204312266 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 204312649 204312649 single base substitution C A downstream_gene_variant LIRI-JP 2 204315356 204315356 single base substitution T C downstream_gene_variant LIRI-JP 2 204316547 204316547 single base substitution C T downstream_gene_variant LIRI-JP 2 204316718 204316718 single base substitution G A downstream_gene_variant LIRI-JP 2 204316908 204316908 single base substitution T C downstream_gene_variant LIRI-JP 2 204317034 204317034 single base substitution T G downstream_gene_variant LIRI-JP 2 204317043 204317043 single base substitution T G downstream_gene_variant LIRI-JP 2 204317052 204317052 single base substitution T G downstream_gene_variant LIRI-JP 2 204317057 204317057 single base substitution A C downstream_gene_variant LIRI-JP 2 204317204 204317204 single base substitution T G downstream_gene_variant LUSC-KR 2 204189948 204189948 single base substitution C A upstream_gene_variant LUSC-KR 2 204196212 204196212 single base substitution G C intron_variant LUSC-KR 2 204199406 204199406 single base substitution G T intron_variant LUSC-KR 2 204199625 204199625 single base substitution C G intron_variant LUSC-KR 2 204204795 204204795 single base substitution C A intron_variant LUSC-KR 2 204206314 204206314 single base substitution C T intron_variant LUSC-KR 2 204207219 204207219 single base substitution A C intron_variant LUSC-KR 2 204208823 204208823 single base substitution C G intron_variant LUSC-KR 2 204208837 204208837 single base substitution C T intron_variant LUSC-KR 2 204209173 204209173 single base substitution C T intron_variant LUSC-KR 2 204210241 204210241 single base substitution C G intron_variant LUSC-KR 2 204210586 204210586 single base substitution C T intron_variant LUSC-KR 2 204211053 204211053 single base substitution A C intron_variant LUSC-KR 2 204211143 204211143 single base substitution C T intron_variant LUSC-KR 2 204211766 204211766 single base substitution C T intron_variant LUSC-KR 2 204211825 204211825 single base substitution C G intron_variant LUSC-KR 2 204213459 204213459 single base substitution C G intron_variant LUSC-KR 2 204214930 204214930 single base substitution G C intron_variant LUSC-KR 2 204215488 204215488 single base substitution C G intron_variant LUSC-KR 2 204221110 204221110 single base substitution G C intron_variant LUSC-KR 2 204222846 204222846 single base substitution T G intron_variant LUSC-KR 2 204228557 204228557 single base substitution G A intron_variant LUSC-KR 2 204233708 204233708 single base substitution T A downstream_gene_variant LUSC-KR 2 204233708 204233708 single base substitution T A intron_variant LUSC-KR 2 204234989 204234989 single base substitution G T downstream_gene_variant LUSC-KR 2 204234989 204234989 single base substitution G T intron_variant LUSC-KR 2 204236271 204236271 single base substitution G T downstream_gene_variant LUSC-KR 2 204236271 204236271 single base substitution G T intron_variant LUSC-KR 2 204237014 204237014 single base substitution G A downstream_gene_variant LUSC-KR 2 204237014 204237014 single base substitution G A intron_variant LUSC-KR 2 204237167 204237167 single base substitution T C intron_variant LUSC-KR 2 204243442 204243442 single base substitution G A downstream_gene_variant LUSC-KR 2 204243442 204243442 single base substitution G A intron_variant LUSC-KR 2 204243442 204243442 single base substitution G A upstream_gene_variant LUSC-KR 2 204247393 204247393 single base substitution G A downstream_gene_variant LUSC-KR 2 204247393 204247393 single base substitution G A intron_variant LUSC-KR 2 204257040 204257040 single base substitution A C intron_variant LUSC-KR 2 204257040 204257040 single base substitution A C upstream_gene_variant LUSC-KR 2 204258224 204258224 single base substitution G T intron_variant LUSC-KR 2 204258224 204258224 single base substitution G T upstream_gene_variant LUSC-KR 2 204259228 204259228 single base substitution A C intron_variant LUSC-KR 2 204259228 204259228 single base substitution A C upstream_gene_variant LUSC-KR 2 204261546 204261546 single base substitution A G exon_variant LUSC-KR 2 204261546 204261546 single base substitution A G intron_variant LUSC-KR 2 204261546 204261546 single base substitution A G missense_variant T242A 724A>G LUSC-KR 2 204261546 204261546 single base substitution A G missense_variant T291A 871A>G LUSC-KR 2 204261546 204261546 single base substitution A G missense_variant T297A 889A>G LUSC-KR 2 204261546 204261546 single base substitution A G missense_variant T83A 247A>G LUSC-KR 2 204262475 204262475 single base substitution G T intron_variant LUSC-KR 2 204262475 204262475 single base substitution G T upstream_gene_variant LUSC-KR 2 204267040 204267040 single base substitution G T intron_variant LUSC-KR 2 204267040 204267040 single base substitution G T upstream_gene_variant LUSC-KR 2 204268987 204268987 single base substitution A G downstream_gene_variant LUSC-KR 2 204268987 204268987 single base substitution A G intron_variant LUSC-KR 2 204269389 204269389 single base substitution C T downstream_gene_variant LUSC-KR 2 204269389 204269389 single base substitution C T intron_variant LUSC-KR 2 204270202 204270202 single base substitution G A downstream_gene_variant LUSC-KR 2 204270202 204270202 single base substitution G A intron_variant LUSC-KR 2 204274635 204274635 single base substitution A T intron_variant LUSC-KR 2 204278844 204278844 single base substitution G T intron_variant LUSC-KR 2 204285608 204285608 single base substitution G T downstream_gene_variant LUSC-KR 2 204285608 204285608 single base substitution G T intron_variant LUSC-KR 2 204292517 204292517 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 204292517 204292517 single base substitution T C downstream_gene_variant LUSC-KR 2 204292517 204292517 single base substitution T C intron_variant LUSC-KR 2 204294412 204294412 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 204294412 204294412 single base substitution A G downstream_gene_variant LUSC-KR 2 204294412 204294412 single base substitution A G intron_variant LUSC-KR 2 204296411 204296411 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 204296411 204296411 single base substitution A G downstream_gene_variant LUSC-KR 2 204296411 204296411 single base substitution A G intron_variant LUSC-KR 2 204298783 204298783 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 204298783 204298783 single base substitution A C downstream_gene_variant LUSC-KR 2 204298783 204298783 single base substitution A C intron_variant LUSC-KR 2 204300103 204300103 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 204300103 204300103 single base substitution A C downstream_gene_variant LUSC-KR 2 204300103 204300103 single base substitution A C intron_variant LUSC-KR 2 204301296 204301296 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 204301296 204301296 single base substitution G A downstream_gene_variant LUSC-KR 2 204301296 204301296 single base substitution G A intron_variant LUSC-KR 2 204302472 204302472 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 204302472 204302472 single base substitution A G downstream_gene_variant LUSC-KR 2 204305093 204305093 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 204305093 204305093 single base substitution T C downstream_gene_variant LUSC-KR 2 204305114 204305114 single base substitution T G 3_prime_UTR_variant LUSC-KR 2 204305114 204305114 single base substitution T G downstream_gene_variant LUSC-KR 2 204306356 204306356 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 204306356 204306356 single base substitution A G downstream_gene_variant LUSC-KR 2 204306452 204306452 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 204306452 204306452 single base substitution T C downstream_gene_variant LUSC-KR 2 204308804 204308804 single base substitution T A 3_prime_UTR_variant LUSC-KR 2 204309870 204309870 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 204311923 204311923 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 204314452 204314452 single base substitution A G downstream_gene_variant LUSC-US 2 204305807 204305807 single base substitution C A 3_prime_UTR_variant LUSC-US 2 204305807 204305807 single base substitution C A downstream_gene_variant LUSC-US 2 204305815 204305815 single base substitution G A 3_prime_UTR_variant LUSC-US 2 204305815 204305815 single base substitution G A downstream_gene_variant MALY-DE 2 204196080 204196080 insertion of <=200bp - TTTTTC intron_variant MALY-DE 2 204206441 204206441 single base substitution A C intron_variant MALY-DE 2 204206773 204206773 single base substitution G A intron_variant MALY-DE 2 204213383 204213383 deletion of <=200bp G - intron_variant MALY-DE 2 204233950 204233950 single base substitution C T downstream_gene_variant MALY-DE 2 204233950 204233950 single base substitution C T intron_variant MALY-DE 2 204236031 204236031 single base substitution A T downstream_gene_variant MALY-DE 2 204236031 204236031 single base substitution A T intron_variant MALY-DE 2 204239852 204239852 single base substitution A G intron_variant MALY-DE 2 204246911 204246911 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 2 204246911 204246911 single base substitution G A downstream_gene_variant MALY-DE 2 204246911 204246911 single base substitution G A intron_variant MALY-DE 2 204246911 204246911 single base substitution G A splice_acceptor_variant MALY-DE 2 204247446 204247446 single base substitution A G downstream_gene_variant MALY-DE 2 204247446 204247446 single base substitution A G intron_variant MALY-DE 2 204250437 204250437 single base substitution T A downstream_gene_variant MALY-DE 2 204250437 204250437 single base substitution T A intron_variant MALY-DE 2 204251011 204251011 single base substitution C T downstream_gene_variant MALY-DE 2 204251011 204251011 single base substitution C T intron_variant MALY-DE 2 204251011 204251011 single base substitution C T upstream_gene_variant MALY-DE 2 204254570 204254570 single base substitution G C intron_variant MALY-DE 2 204254570 204254570 single base substitution G C upstream_gene_variant MALY-DE 2 204257163 204257163 single base substitution G A intron_variant MALY-DE 2 204257163 204257163 single base substitution G A upstream_gene_variant MALY-DE 2 204258498 204258498 single base substitution T C intron_variant MALY-DE 2 204258498 204258498 single base substitution T C upstream_gene_variant MALY-DE 2 204266350 204266350 single base substitution T C intron_variant MALY-DE 2 204266350 204266350 single base substitution T C upstream_gene_variant MALY-DE 2 204267255 204267255 single base substitution T C intron_variant MALY-DE 2 204267255 204267255 single base substitution T C upstream_gene_variant MALY-DE 2 204268400 204268400 single base substitution G C downstream_gene_variant MALY-DE 2 204268400 204268400 single base substitution G C intron_variant MALY-DE 2 204280552 204280552 single base substitution C G intron_variant MALY-DE 2 204282687 204282688 deletion of <=200bp AG - downstream_gene_variant MALY-DE 2 204282687 204282688 deletion of <=200bp AG - intron_variant MALY-DE 2 204286700 204286700 single base substitution A G downstream_gene_variant MALY-DE 2 204286700 204286700 single base substitution A G intron_variant MALY-DE 2 204295129 204295129 single base substitution A T 3_prime_UTR_variant MALY-DE 2 204295129 204295129 single base substitution A T downstream_gene_variant MALY-DE 2 204295129 204295129 single base substitution A T intron_variant MALY-DE 2 204295197 204295197 single base substitution T A 3_prime_UTR_variant MALY-DE 2 204295197 204295197 single base substitution T A downstream_gene_variant MALY-DE 2 204295197 204295197 single base substitution T A intron_variant MALY-DE 2 204295198 204295198 single base substitution A T 3_prime_UTR_variant MALY-DE 2 204295198 204295198 single base substitution A T downstream_gene_variant MALY-DE 2 204295198 204295198 single base substitution A T intron_variant MALY-DE 2 204304667 204304667 single base substitution A G 3_prime_UTR_variant MALY-DE 2 204304667 204304667 single base substitution A G downstream_gene_variant MALY-DE 2 204308171 204308171 single base substitution G T 3_prime_UTR_variant MALY-DE 2 204311064 204311064 single base substitution T G 3_prime_UTR_variant MELA-AU 2 204188243 204188243 single base substitution C T upstream_gene_variant MELA-AU 2 204188262 204188262 single base substitution C T upstream_gene_variant MELA-AU 2 204188582 204188582 single base substitution C T upstream_gene_variant MELA-AU 2 204188699 204188699 single base substitution G A upstream_gene_variant MELA-AU 2 204189048 204189048 single base substitution C T upstream_gene_variant MELA-AU 2 204189377 204189377 single base substitution C T upstream_gene_variant MELA-AU 2 204189729 204189729 single base substitution C T upstream_gene_variant MELA-AU 2 204190117 204190117 single base substitution C T upstream_gene_variant MELA-AU 2 204190165 204190165 single base substitution C A upstream_gene_variant MELA-AU 2 204193516 204193516 single base substitution C T intron_variant MELA-AU 2 204193852 204193852 single base substitution C T intron_variant MELA-AU 2 204194070 204194070 single base substitution T C intron_variant MELA-AU 2 204194449 204194449 single base substitution C G intron_variant MELA-AU 2 204197115 204197115 single base substitution C T intron_variant MELA-AU 2 204197132 204197132 single base substitution G A intron_variant MELA-AU 2 204197674 204197674 single base substitution G A intron_variant MELA-AU 2 204198177 204198177 single base substitution C T intron_variant MELA-AU 2 204198279 204198279 single base substitution C T intron_variant MELA-AU 2 204198572 204198572 single base substitution C T intron_variant MELA-AU 2 204198749 204198749 single base substitution C T intron_variant MELA-AU 2 204199122 204199122 single base substitution G A intron_variant MELA-AU 2 204199175 204199175 single base substitution G A intron_variant MELA-AU 2 204199609 204199609 single base substitution C T intron_variant MELA-AU 2 204199863 204199863 single base substitution C T intron_variant MELA-AU 2 204199864 204199864 single base substitution C T intron_variant MELA-AU 2 204200657 204200657 single base substitution C T intron_variant MELA-AU 2 204200777 204200778 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 204200860 204200860 single base substitution T A intron_variant MELA-AU 2 204201656 204201656 single base substitution C T intron_variant MELA-AU 2 204201787 204201787 single base substitution C T intron_variant MELA-AU 2 204201788 204201788 single base substitution C T intron_variant MELA-AU 2 204201942 204201942 single base substitution A G intron_variant MELA-AU 2 204204214 204204214 single base substitution G A intron_variant MELA-AU 2 204204880 204204880 single base substitution G A intron_variant MELA-AU 2 204204948 204204949 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204205088 204205088 single base substitution C A intron_variant MELA-AU 2 204205094 204205094 single base substitution A T intron_variant MELA-AU 2 204205884 204205884 single base substitution C T intron_variant MELA-AU 2 204206290 204206290 single base substitution T A intron_variant MELA-AU 2 204206292 204206292 single base substitution C T intron_variant MELA-AU 2 204207276 204207276 insertion of <=200bp - TTTA intron_variant MELA-AU 2 204207487 204207487 single base substitution C G intron_variant MELA-AU 2 204209421 204209421 single base substitution G A intron_variant MELA-AU 2 204209939 204209939 single base substitution C T intron_variant MELA-AU 2 204210189 204210189 single base substitution C T intron_variant MELA-AU 2 204210867 204210867 single base substitution C T intron_variant MELA-AU 2 204211573 204211573 single base substitution T C intron_variant MELA-AU 2 204211687 204211687 single base substitution T C intron_variant MELA-AU 2 204212487 204212487 single base substitution G C intron_variant MELA-AU 2 204213004 204213004 single base substitution T C intron_variant MELA-AU 2 204213532 204213532 single base substitution G A intron_variant MELA-AU 2 204213643 204213643 single base substitution T G intron_variant MELA-AU 2 204214075 204214075 single base substitution C T intron_variant MELA-AU 2 204214971 204214971 single base substitution C T intron_variant MELA-AU 2 204215730 204215730 single base substitution C T intron_variant MELA-AU 2 204216074 204216074 single base substitution C T intron_variant MELA-AU 2 204216430 204216430 single base substitution C T intron_variant MELA-AU 2 204217184 204217184 single base substitution C T intron_variant MELA-AU 2 204217831 204217831 single base substitution C T intron_variant MELA-AU 2 204218159 204218159 single base substitution C T intron_variant MELA-AU 2 204218233 204218233 single base substitution C T intron_variant MELA-AU 2 204218388 204218388 single base substitution T C intron_variant MELA-AU 2 204218658 204218658 single base substitution C T intron_variant MELA-AU 2 204218859 204218859 single base substitution C T intron_variant MELA-AU 2 204219023 204219023 single base substitution T C intron_variant MELA-AU 2 204219094 204219094 single base substitution C T intron_variant MELA-AU 2 204219690 204219690 single base substitution C T intron_variant MELA-AU 2 204221025 204221026 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204221180 204221180 single base substitution C A intron_variant MELA-AU 2 204221966 204221966 single base substitution C T intron_variant MELA-AU 2 204221970 204221970 single base substitution C T intron_variant MELA-AU 2 204222000 204222000 single base substitution C T intron_variant MELA-AU 2 204222616 204222616 single base substitution C T intron_variant MELA-AU 2 204224347 204224347 single base substitution C T intron_variant MELA-AU 2 204224943 204224943 single base substitution C T intron_variant MELA-AU 2 204224956 204224964 deletion of <=200bp TTAAGTTAG - intron_variant MELA-AU 2 204225212 204225212 single base substitution T C intron_variant MELA-AU 2 204225584 204225584 single base substitution C T intron_variant MELA-AU 2 204225640 204225640 single base substitution T C intron_variant MELA-AU 2 204226582 204226582 single base substitution T G intron_variant MELA-AU 2 204227359 204227359 single base substitution C T intron_variant MELA-AU 2 204227537 204227537 single base substitution A T intron_variant MELA-AU 2 204227644 204227645 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204227854 204227854 single base substitution G A intron_variant MELA-AU 2 204228403 204228404 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204228582 204228583 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 204228907 204228908 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204229256 204229256 single base substitution C T intron_variant MELA-AU 2 204229636 204229636 single base substitution T G intron_variant MELA-AU 2 204229711 204229711 single base substitution C T intron_variant MELA-AU 2 204230562 204230562 single base substitution C T intron_variant MELA-AU 2 204231166 204231166 single base substitution T C intron_variant MELA-AU 2 204231175 204231175 single base substitution T G intron_variant MELA-AU 2 204231515 204231515 single base substitution C T intron_variant MELA-AU 2 204231786 204231786 single base substitution C T downstream_gene_variant MELA-AU 2 204231786 204231786 single base substitution C T exon_variant MELA-AU 2 204231786 204231786 single base substitution C T intron_variant MELA-AU 2 204232171 204232171 single base substitution C T downstream_gene_variant MELA-AU 2 204232171 204232171 single base substitution C T intron_variant MELA-AU 2 204233021 204233021 single base substitution C T downstream_gene_variant MELA-AU 2 204233021 204233021 single base substitution C T intron_variant MELA-AU 2 204233800 204233800 single base substitution C T downstream_gene_variant MELA-AU 2 204233800 204233800 single base substitution C T intron_variant MELA-AU 2 204233820 204233820 single base substitution G A downstream_gene_variant MELA-AU 2 204233820 204233820 single base substitution G A intron_variant MELA-AU 2 204233950 204233950 single base substitution C T downstream_gene_variant MELA-AU 2 204233950 204233950 single base substitution C T intron_variant MELA-AU 2 204235843 204235843 single base substitution C T downstream_gene_variant MELA-AU 2 204235843 204235843 single base substitution C T intron_variant MELA-AU 2 204235855 204235855 single base substitution C T downstream_gene_variant MELA-AU 2 204235855 204235855 single base substitution C T intron_variant MELA-AU 2 204235957 204235957 single base substitution C T downstream_gene_variant MELA-AU 2 204235957 204235957 single base substitution C T intron_variant MELA-AU 2 204236585 204236585 single base substitution T A downstream_gene_variant MELA-AU 2 204236585 204236585 single base substitution T A intron_variant MELA-AU 2 204236589 204236589 single base substitution C T downstream_gene_variant MELA-AU 2 204236589 204236589 single base substitution C T intron_variant MELA-AU 2 204236596 204236596 single base substitution A G downstream_gene_variant MELA-AU 2 204236596 204236596 single base substitution A G intron_variant MELA-AU 2 204236669 204236669 single base substitution T A downstream_gene_variant MELA-AU 2 204236669 204236669 single base substitution T A intron_variant MELA-AU 2 204237297 204237297 single base substitution C T intron_variant MELA-AU 2 204237302 204237302 single base substitution C A intron_variant MELA-AU 2 204237307 204237308 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 204237308 204237308 single base substitution G A intron_variant MELA-AU 2 204237658 204237658 single base substitution T C intron_variant MELA-AU 2 204238994 204238994 single base substitution G T intron_variant MELA-AU 2 204239290 204239290 single base substitution G C intron_variant MELA-AU 2 204240968 204240968 single base substitution C T downstream_gene_variant MELA-AU 2 204240968 204240968 single base substitution C T intron_variant MELA-AU 2 204240968 204240968 single base substitution C T upstream_gene_variant MELA-AU 2 204242772 204242772 single base substitution C T downstream_gene_variant MELA-AU 2 204242772 204242772 single base substitution C T intron_variant MELA-AU 2 204242772 204242772 single base substitution C T upstream_gene_variant MELA-AU 2 204242836 204242836 single base substitution C T downstream_gene_variant MELA-AU 2 204242836 204242836 single base substitution C T intron_variant MELA-AU 2 204242836 204242836 single base substitution C T upstream_gene_variant MELA-AU 2 204243030 204243030 single base substitution T C downstream_gene_variant MELA-AU 2 204243030 204243030 single base substitution T C intron_variant MELA-AU 2 204243030 204243030 single base substitution T C upstream_gene_variant MELA-AU 2 204244151 204244151 single base substitution G A downstream_gene_variant MELA-AU 2 204244151 204244151 single base substitution G A intron_variant MELA-AU 2 204244151 204244151 single base substitution G A upstream_gene_variant MELA-AU 2 204244829 204244829 single base substitution G A downstream_gene_variant MELA-AU 2 204244829 204244829 single base substitution G A intron_variant MELA-AU 2 204244829 204244829 single base substitution G A upstream_gene_variant MELA-AU 2 204245048 204245048 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204245048 204245048 single base substitution C T downstream_gene_variant MELA-AU 2 204245048 204245048 single base substitution C T exon_variant MELA-AU 2 204245048 204245048 single base substitution C T intron_variant MELA-AU 2 204245048 204245048 single base substitution C T missense_variant R135C 403C>T MELA-AU 2 204245048 204245048 single base substitution C T missense_variant R6C 16C>T MELA-AU 2 204245048 204245048 single base substitution C T missense_variant R90C 268C>T MELA-AU 2 204245048 204245048 single base substitution C T upstream_gene_variant MELA-AU 2 204245419 204245419 single base substitution C T downstream_gene_variant MELA-AU 2 204245419 204245419 single base substitution C T intron_variant MELA-AU 2 204245419 204245419 single base substitution C T upstream_gene_variant MELA-AU 2 204245629 204245629 single base substitution A T downstream_gene_variant MELA-AU 2 204245629 204245629 single base substitution A T intron_variant MELA-AU 2 204245629 204245629 single base substitution A T upstream_gene_variant MELA-AU 2 204245731 204245731 single base substitution T A downstream_gene_variant MELA-AU 2 204245731 204245731 single base substitution T A intron_variant MELA-AU 2 204245731 204245731 single base substitution T A upstream_gene_variant MELA-AU 2 204246470 204246470 single base substitution A G downstream_gene_variant MELA-AU 2 204246470 204246470 single base substitution A G intron_variant MELA-AU 2 204246470 204246470 single base substitution A G upstream_gene_variant MELA-AU 2 204246534 204246534 single base substitution C T downstream_gene_variant MELA-AU 2 204246534 204246534 single base substitution C T intron_variant MELA-AU 2 204246534 204246534 single base substitution C T upstream_gene_variant MELA-AU 2 204246708 204246708 single base substitution C T downstream_gene_variant MELA-AU 2 204246708 204246708 single base substitution C T intron_variant MELA-AU 2 204246708 204246708 single base substitution C T upstream_gene_variant MELA-AU 2 204248137 204248137 single base substitution C T downstream_gene_variant MELA-AU 2 204248137 204248137 single base substitution C T intron_variant MELA-AU 2 204248683 204248683 single base substitution C T downstream_gene_variant MELA-AU 2 204248683 204248683 single base substitution C T intron_variant MELA-AU 2 204248719 204248719 single base substitution C T downstream_gene_variant MELA-AU 2 204248719 204248719 single base substitution C T intron_variant MELA-AU 2 204249056 204249056 single base substitution G A downstream_gene_variant MELA-AU 2 204249056 204249056 single base substitution G A intron_variant MELA-AU 2 204249372 204249372 single base substitution T C downstream_gene_variant MELA-AU 2 204249372 204249372 single base substitution T C intron_variant MELA-AU 2 204249670 204249670 single base substitution G A downstream_gene_variant MELA-AU 2 204249670 204249670 single base substitution G A intron_variant MELA-AU 2 204249938 204249938 single base substitution C T downstream_gene_variant MELA-AU 2 204249938 204249938 single base substitution C T intron_variant MELA-AU 2 204250159 204250159 single base substitution C T downstream_gene_variant MELA-AU 2 204250159 204250159 single base substitution C T intron_variant MELA-AU 2 204250401 204250401 single base substitution C T downstream_gene_variant MELA-AU 2 204250401 204250401 single base substitution C T intron_variant MELA-AU 2 204250597 204250597 single base substitution C T downstream_gene_variant MELA-AU 2 204250597 204250597 single base substitution C T intron_variant MELA-AU 2 204250599 204250599 single base substitution C T downstream_gene_variant MELA-AU 2 204250599 204250599 single base substitution C T intron_variant MELA-AU 2 204251308 204251308 single base substitution C T downstream_gene_variant MELA-AU 2 204251308 204251308 single base substitution C T intron_variant MELA-AU 2 204251308 204251308 single base substitution C T upstream_gene_variant MELA-AU 2 204252148 204252148 single base substitution G A downstream_gene_variant MELA-AU 2 204252148 204252148 single base substitution G A intron_variant MELA-AU 2 204252148 204252148 single base substitution G A upstream_gene_variant MELA-AU 2 204252896 204252897 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 2 204252896 204252897 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 204252896 204252897 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 2 204253203 204253203 single base substitution C T intron_variant MELA-AU 2 204253203 204253203 single base substitution C T upstream_gene_variant MELA-AU 2 204253696 204253696 single base substitution C T intron_variant MELA-AU 2 204253696 204253696 single base substitution C T upstream_gene_variant MELA-AU 2 204253786 204253786 single base substitution C T intron_variant MELA-AU 2 204253786 204253786 single base substitution C T upstream_gene_variant MELA-AU 2 204254398 204254398 single base substitution A G intron_variant MELA-AU 2 204254398 204254398 single base substitution A G upstream_gene_variant MELA-AU 2 204256467 204256467 single base substitution C T intron_variant MELA-AU 2 204256467 204256467 single base substitution C T upstream_gene_variant MELA-AU 2 204256904 204256904 single base substitution G A intron_variant MELA-AU 2 204256904 204256904 single base substitution G A upstream_gene_variant MELA-AU 2 204257347 204257347 single base substitution C T intron_variant MELA-AU 2 204257347 204257347 single base substitution C T upstream_gene_variant MELA-AU 2 204257588 204257588 single base substitution C T intron_variant MELA-AU 2 204257588 204257588 single base substitution C T upstream_gene_variant MELA-AU 2 204258123 204258123 single base substitution G T intron_variant MELA-AU 2 204258123 204258123 single base substitution G T upstream_gene_variant MELA-AU 2 204258268 204258268 single base substitution C T intron_variant MELA-AU 2 204258268 204258268 single base substitution C T upstream_gene_variant MELA-AU 2 204259511 204259511 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204259511 204259511 single base substitution C T exon_variant MELA-AU 2 204259511 204259511 single base substitution C T intron_variant MELA-AU 2 204259511 204259511 single base substitution C T missense_variant P172S 514C>T MELA-AU 2 204259511 204259511 single base substitution C T missense_variant P217S 649C>T MELA-AU 2 204259511 204259511 single base substitution C T missense_variant P223S 667C>T MELA-AU 2 204259511 204259511 single base substitution C T missense_variant P63S 187C>T MELA-AU 2 204259511 204259511 single base substitution C T missense_variant P88S 262C>T MELA-AU 2 204260327 204260327 single base substitution G T intron_variant MELA-AU 2 204260909 204260909 single base substitution C T intron_variant MELA-AU 2 204261821 204261822 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204261963 204261963 single base substitution G A intron_variant MELA-AU 2 204262275 204262275 single base substitution G T intron_variant MELA-AU 2 204262485 204262485 single base substitution C T intron_variant MELA-AU 2 204262485 204262485 single base substitution C T upstream_gene_variant MELA-AU 2 204262838 204262838 single base substitution C T intron_variant MELA-AU 2 204262838 204262838 single base substitution C T upstream_gene_variant MELA-AU 2 204263437 204263437 single base substitution C T intron_variant MELA-AU 2 204263437 204263437 single base substitution C T upstream_gene_variant MELA-AU 2 204263881 204263881 single base substitution C T intron_variant MELA-AU 2 204263881 204263881 single base substitution C T upstream_gene_variant MELA-AU 2 204263954 204263954 single base substitution C T intron_variant MELA-AU 2 204263954 204263954 single base substitution C T upstream_gene_variant MELA-AU 2 204264211 204264211 single base substitution C T intron_variant MELA-AU 2 204264211 204264211 single base substitution C T upstream_gene_variant MELA-AU 2 204264361 204264361 single base substitution C T intron_variant MELA-AU 2 204264361 204264361 single base substitution C T upstream_gene_variant MELA-AU 2 204264532 204264532 single base substitution C T intron_variant MELA-AU 2 204264532 204264532 single base substitution C T upstream_gene_variant MELA-AU 2 204265415 204265415 single base substitution C T intron_variant MELA-AU 2 204265415 204265415 single base substitution C T upstream_gene_variant MELA-AU 2 204266134 204266134 single base substitution G A intron_variant MELA-AU 2 204266134 204266134 single base substitution G A upstream_gene_variant MELA-AU 2 204266151 204266151 single base substitution C T intron_variant MELA-AU 2 204266151 204266151 single base substitution C T upstream_gene_variant MELA-AU 2 204266824 204266824 single base substitution C A intron_variant MELA-AU 2 204266824 204266824 single base substitution C A upstream_gene_variant MELA-AU 2 204266954 204266954 single base substitution C T intron_variant MELA-AU 2 204266954 204266954 single base substitution C T upstream_gene_variant MELA-AU 2 204267330 204267330 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204267330 204267330 single base substitution G A exon_variant MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R134R 402G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R141R 423G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R158R 474G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R243R 729G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R288R 864G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R300R 900G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R322R 966G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R349R 1047G>A MELA-AU 2 204267330 204267330 single base substitution G A synonymous_variant R355R 1065G>A MELA-AU 2 204267330 204267330 single base substitution G A upstream_gene_variant MELA-AU 2 204267507 204267507 single base substitution C T downstream_gene_variant MELA-AU 2 204267507 204267507 single base substitution C T intron_variant MELA-AU 2 204268505 204268505 single base substitution C T downstream_gene_variant MELA-AU 2 204268505 204268505 single base substitution C T intron_variant MELA-AU 2 204268833 204268833 single base substitution C T downstream_gene_variant MELA-AU 2 204268833 204268833 single base substitution C T intron_variant MELA-AU 2 204269481 204269481 single base substitution C T downstream_gene_variant MELA-AU 2 204269481 204269481 single base substitution C T intron_variant MELA-AU 2 204269597 204269597 single base substitution C T downstream_gene_variant MELA-AU 2 204269597 204269597 single base substitution C T intron_variant MELA-AU 2 204269654 204269654 single base substitution T C downstream_gene_variant MELA-AU 2 204269654 204269654 single base substitution T C intron_variant MELA-AU 2 204269768 204269769 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 2 204269768 204269769 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 204270029 204270029 single base substitution G A downstream_gene_variant MELA-AU 2 204270029 204270029 single base substitution G A intron_variant MELA-AU 2 204270038 204270038 single base substitution C T downstream_gene_variant MELA-AU 2 204270038 204270038 single base substitution C T intron_variant MELA-AU 2 204271086 204271086 single base substitution C T downstream_gene_variant MELA-AU 2 204271086 204271086 single base substitution C T intron_variant MELA-AU 2 204271796 204271796 single base substitution G A downstream_gene_variant MELA-AU 2 204271796 204271796 single base substitution G A intron_variant MELA-AU 2 204272320 204272320 single base substitution G T downstream_gene_variant MELA-AU 2 204272320 204272320 single base substitution G T intron_variant MELA-AU 2 204272709 204272709 single base substitution C T intron_variant MELA-AU 2 204273395 204273395 single base substitution C T intron_variant MELA-AU 2 204274572 204274572 single base substitution G A intron_variant MELA-AU 2 204275462 204275462 single base substitution T A intron_variant MELA-AU 2 204275571 204275571 single base substitution C T intron_variant MELA-AU 2 204275633 204275633 single base substitution C T intron_variant MELA-AU 2 204276833 204276833 single base substitution C T intron_variant MELA-AU 2 204276936 204276936 single base substitution G A intron_variant MELA-AU 2 204277083 204277083 single base substitution G A intron_variant MELA-AU 2 204277562 204277562 single base substitution T G intron_variant MELA-AU 2 204278448 204278448 single base substitution G A intron_variant MELA-AU 2 204279082 204279082 single base substitution C T intron_variant MELA-AU 2 204279087 204279087 single base substitution A C intron_variant MELA-AU 2 204279188 204279188 single base substitution C T intron_variant MELA-AU 2 204279888 204279888 single base substitution A T intron_variant MELA-AU 2 204280329 204280329 single base substitution G A intron_variant MELA-AU 2 204280333 204280334 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204281072 204281072 single base substitution G A intron_variant MELA-AU 2 204281260 204281260 single base substitution C T intron_variant MELA-AU 2 204281552 204281552 single base substitution C T intron_variant MELA-AU 2 204281946 204281946 single base substitution T C downstream_gene_variant MELA-AU 2 204281946 204281946 single base substitution T C intron_variant MELA-AU 2 204282414 204282414 single base substitution G A downstream_gene_variant MELA-AU 2 204282414 204282414 single base substitution G A intron_variant MELA-AU 2 204283595 204283595 single base substitution C T downstream_gene_variant MELA-AU 2 204283595 204283595 single base substitution C T intron_variant MELA-AU 2 204289492 204289492 single base substitution T C intron_variant MELA-AU 2 204290050 204290050 single base substitution C T intron_variant MELA-AU 2 204290110 204290110 single base substitution G A intron_variant MELA-AU 2 204290279 204290279 single base substitution G A intron_variant MELA-AU 2 204290371 204290371 single base substitution T C intron_variant MELA-AU 2 204292027 204292027 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204292027 204292027 single base substitution G A downstream_gene_variant MELA-AU 2 204292027 204292027 single base substitution G A intron_variant MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G277G 831G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G284G 852G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G386G 1158G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G443G 1329G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G460G 1380G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G465G 1395G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G492G 1476G>A MELA-AU 2 204292027 204292027 single base substitution G A synonymous_variant G498G 1494G>A MELA-AU 2 204292204 204292204 single base substitution T A 3_prime_UTR_variant MELA-AU 2 204292204 204292204 single base substitution T A downstream_gene_variant MELA-AU 2 204292204 204292204 single base substitution T A intron_variant MELA-AU 2 204292545 204292545 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204292545 204292545 single base substitution G A downstream_gene_variant MELA-AU 2 204292545 204292545 single base substitution G A intron_variant MELA-AU 2 204293050 204293050 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204293050 204293050 single base substitution G A downstream_gene_variant MELA-AU 2 204293050 204293050 single base substitution G A intron_variant MELA-AU 2 204295123 204295124 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 204295123 204295124 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 204295123 204295124 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204296930 204296930 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204296930 204296930 single base substitution C T downstream_gene_variant MELA-AU 2 204296930 204296930 single base substitution C T intron_variant MELA-AU 2 204297046 204297046 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204297046 204297046 single base substitution G A downstream_gene_variant MELA-AU 2 204297046 204297046 single base substitution G A intron_variant MELA-AU 2 204297067 204297067 single base substitution A T 3_prime_UTR_variant MELA-AU 2 204297067 204297067 single base substitution A T downstream_gene_variant MELA-AU 2 204297067 204297067 single base substitution A T intron_variant MELA-AU 2 204297124 204297124 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204297124 204297124 single base substitution C T downstream_gene_variant MELA-AU 2 204297124 204297124 single base substitution C T intron_variant MELA-AU 2 204297803 204297803 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204297803 204297803 single base substitution G A downstream_gene_variant MELA-AU 2 204297803 204297803 single base substitution G A intron_variant MELA-AU 2 204298785 204298785 single base substitution A C 3_prime_UTR_variant MELA-AU 2 204298785 204298785 single base substitution A C downstream_gene_variant MELA-AU 2 204298785 204298785 single base substitution A C intron_variant MELA-AU 2 204298787 204298787 single base substitution A C 3_prime_UTR_variant MELA-AU 2 204298787 204298787 single base substitution A C downstream_gene_variant MELA-AU 2 204298787 204298787 single base substitution A C intron_variant MELA-AU 2 204298958 204298958 single base substitution T C 3_prime_UTR_variant MELA-AU 2 204298958 204298958 single base substitution T C downstream_gene_variant MELA-AU 2 204298958 204298958 single base substitution T C intron_variant MELA-AU 2 204299601 204299602 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 204299601 204299602 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 204299601 204299602 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 204300773 204300773 single base substitution G C 3_prime_UTR_variant MELA-AU 2 204300773 204300773 single base substitution G C downstream_gene_variant MELA-AU 2 204300773 204300773 single base substitution G C intron_variant MELA-AU 2 204301309 204301309 single base substitution T C 3_prime_UTR_variant MELA-AU 2 204301309 204301309 single base substitution T C downstream_gene_variant MELA-AU 2 204301309 204301309 single base substitution T C intron_variant MELA-AU 2 204303177 204303177 single base substitution A G 3_prime_UTR_variant MELA-AU 2 204303177 204303177 single base substitution A G downstream_gene_variant MELA-AU 2 204306150 204306150 single base substitution A T 3_prime_UTR_variant MELA-AU 2 204306150 204306150 single base substitution A T downstream_gene_variant MELA-AU 2 204307493 204307493 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204308128 204308128 single base substitution A G 3_prime_UTR_variant MELA-AU 2 204308636 204308636 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204308809 204308809 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204308810 204308810 single base substitution G A 3_prime_UTR_variant MELA-AU 2 204308894 204308894 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204310780 204310780 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204311401 204311401 single base substitution A C 3_prime_UTR_variant MELA-AU 2 204312649 204312649 single base substitution C T downstream_gene_variant MELA-AU 2 204313411 204313412 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 2 204314971 204314971 single base substitution G A downstream_gene_variant MELA-AU 2 204315328 204315328 single base substitution G A downstream_gene_variant MELA-AU 2 204315620 204315620 single base substitution G T downstream_gene_variant MELA-AU 2 204317313 204317313 single base substitution G A downstream_gene_variant ORCA-IN 2 204233220 204233220 single base substitution C T downstream_gene_variant ORCA-IN 2 204233220 204233220 single base substitution C T intron_variant ORCA-IN 2 204255866 204255866 single base substitution G T intron_variant ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G142V 425G>T ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G187V 560G>T ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G193V 578G>T ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G28V 83G>T ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G33V 98G>T ORCA-IN 2 204255866 204255866 single base substitution G T missense_variant G58V 173G>T ORCA-IN 2 204255866 204255866 single base substitution G T splice_region_variant ORCA-IN 2 204255866 204255866 single base substitution G T upstream_gene_variant ORCA-IN 2 204264723 204264723 single base substitution G A intron_variant ORCA-IN 2 204264723 204264723 single base substitution G A upstream_gene_variant ORCA-IN 2 204280232 204280232 single base substitution T C intron_variant ORCA-IN 2 204284215 204284215 single base substitution C T downstream_gene_variant ORCA-IN 2 204284215 204284215 single base substitution C T intron_variant ORCA-IN 2 204287031 204287031 single base substitution C T intron_variant ORCA-IN 2 204300108 204300108 deletion of <=200bp C - 3_prime_UTR_variant ORCA-IN 2 204300108 204300108 deletion of <=200bp C - downstream_gene_variant ORCA-IN 2 204300108 204300108 deletion of <=200bp C - intron_variant ORCA-IN 2 204315510 204315510 single base substitution C G downstream_gene_variant OV-AU 2 204195676 204195676 single base substitution T C intron_variant OV-AU 2 204200249 204200249 single base substitution G A intron_variant OV-AU 2 204212992 204212992 single base substitution A G intron_variant OV-AU 2 204213034 204213034 single base substitution C A intron_variant OV-AU 2 204216523 204216523 single base substitution T C intron_variant OV-AU 2 204232234 204232234 single base substitution A T downstream_gene_variant OV-AU 2 204232234 204232234 single base substitution A T intron_variant OV-AU 2 204233091 204233091 single base substitution C T downstream_gene_variant OV-AU 2 204233091 204233091 single base substitution C T intron_variant OV-AU 2 204233442 204233442 single base substitution A G downstream_gene_variant OV-AU 2 204233442 204233442 single base substitution A G intron_variant OV-AU 2 204237739 204237739 single base substitution C T intron_variant OV-AU 2 204244549 204244549 single base substitution A C downstream_gene_variant OV-AU 2 204244549 204244549 single base substitution A C intron_variant OV-AU 2 204244549 204244549 single base substitution A C upstream_gene_variant OV-AU 2 204258658 204258658 single base substitution C G intron_variant OV-AU 2 204258658 204258658 single base substitution C G upstream_gene_variant OV-AU 2 204260103 204260103 single base substitution G C intron_variant OV-AU 2 204264357 204264357 single base substitution C T intron_variant OV-AU 2 204264357 204264357 single base substitution C T upstream_gene_variant OV-AU 2 204266047 204266047 single base substitution G T intron_variant OV-AU 2 204266047 204266047 single base substitution G T upstream_gene_variant OV-AU 2 204270251 204270251 single base substitution C T downstream_gene_variant OV-AU 2 204270251 204270251 single base substitution C T intron_variant OV-AU 2 204272885 204272885 single base substitution G C intron_variant OV-AU 2 204273959 204273959 single base substitution G A intron_variant OV-AU 2 204274659 204274659 single base substitution C A intron_variant OV-AU 2 204286082 204286082 single base substitution C T downstream_gene_variant OV-AU 2 204286082 204286082 single base substitution C T intron_variant OV-AU 2 204287541 204287541 single base substitution A G intron_variant OV-AU 2 204288306 204288306 single base substitution G A intron_variant OV-AU 2 204289538 204289538 single base substitution C A intron_variant OV-AU 2 204289539 204289539 single base substitution T A intron_variant OV-AU 2 204290539 204290539 single base substitution G A intron_variant OV-AU 2 204291066 204291066 single base substitution G C intron_variant OV-AU 2 204297270 204297270 single base substitution C G 3_prime_UTR_variant OV-AU 2 204297270 204297270 single base substitution C G downstream_gene_variant OV-AU 2 204297270 204297270 single base substitution C G intron_variant OV-AU 2 204301637 204301637 single base substitution T A 3_prime_UTR_variant OV-AU 2 204301637 204301637 single base substitution T A downstream_gene_variant OV-AU 2 204303467 204303467 single base substitution A G 3_prime_UTR_variant OV-AU 2 204303467 204303467 single base substitution A G downstream_gene_variant OV-AU 2 204307937 204307937 single base substitution T A 3_prime_UTR_variant PACA-AU 2 204190027 204190027 single base substitution C T upstream_gene_variant PACA-AU 2 204193259 204193259 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 2 204193259 204193259 single base substitution C T exon_variant PACA-AU 2 204193259 204193259 single base substitution C T synonymous_variant L8L 22C>T PACA-AU 2 204199589 204199609 deletion of <=200bp GGCCAGGCTGGTCTCGAGATC - intron_variant PACA-AU 2 204200608 204200608 single base substitution A G intron_variant PACA-AU 2 204203601 204203601 insertion of <=200bp - C intron_variant PACA-AU 2 204204950 204204950 single base substitution G A intron_variant PACA-AU 2 204214960 204214960 single base substitution C T intron_variant PACA-AU 2 204219377 204219386 deletion of <=200bp GCATTTTCTT - intron_variant PACA-AU 2 204221475 204221475 single base substitution C T intron_variant PACA-AU 2 204232363 204232363 single base substitution C G downstream_gene_variant PACA-AU 2 204232363 204232363 single base substitution C G intron_variant PACA-AU 2 204233160 204233160 single base substitution T G downstream_gene_variant PACA-AU 2 204233160 204233160 single base substitution T G intron_variant PACA-AU 2 204235708 204235708 single base substitution A T downstream_gene_variant PACA-AU 2 204235708 204235708 single base substitution A T intron_variant PACA-AU 2 204241911 204241911 single base substitution G C downstream_gene_variant PACA-AU 2 204241911 204241911 single base substitution G C intron_variant PACA-AU 2 204241911 204241911 single base substitution G C upstream_gene_variant PACA-AU 2 204245747 204245747 single base substitution C T downstream_gene_variant PACA-AU 2 204245747 204245747 single base substitution C T intron_variant PACA-AU 2 204245747 204245747 single base substitution C T upstream_gene_variant PACA-AU 2 204250952 204250952 single base substitution T G downstream_gene_variant PACA-AU 2 204250952 204250952 single base substitution T G intron_variant PACA-AU 2 204250952 204250952 single base substitution T G upstream_gene_variant PACA-AU 2 204250962 204250962 single base substitution G T downstream_gene_variant PACA-AU 2 204250962 204250962 single base substitution G T intron_variant PACA-AU 2 204250962 204250962 single base substitution G T upstream_gene_variant PACA-AU 2 204252891 204252891 single base substitution T C downstream_gene_variant PACA-AU 2 204252891 204252891 single base substitution T C intron_variant PACA-AU 2 204252891 204252891 single base substitution T C upstream_gene_variant PACA-AU 2 204255077 204255077 single base substitution G A intron_variant PACA-AU 2 204255077 204255077 single base substitution G A upstream_gene_variant PACA-AU 2 204255805 204255805 single base substitution C T 3_prime_UTR_variant PACA-AU 2 204255805 204255805 single base substitution C T exon_variant PACA-AU 2 204255805 204255805 single base substitution C T intron_variant PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R122C 364C>T PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R13C 37C>T PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R167C 499C>T PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R173C 517C>T PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R38C 112C>T PACA-AU 2 204255805 204255805 single base substitution C T missense_variant R8C 22C>T PACA-AU 2 204255805 204255805 single base substitution C T upstream_gene_variant PACA-AU 2 204259522 204259522 single base substitution G C 3_prime_UTR_variant PACA-AU 2 204259522 204259522 single base substitution G C exon_variant PACA-AU 2 204259522 204259522 single base substitution G C intron_variant PACA-AU 2 204259522 204259522 single base substitution G C missense_variant Q175H 525G>C PACA-AU 2 204259522 204259522 single base substitution G C missense_variant Q220H 660G>C PACA-AU 2 204259522 204259522 single base substitution G C missense_variant Q226H 678G>C PACA-AU 2 204259522 204259522 single base substitution G C missense_variant Q66H 198G>C PACA-AU 2 204259522 204259522 single base substitution G C missense_variant Q91H 273G>C PACA-AU 2 204267027 204267027 single base substitution G A intron_variant PACA-AU 2 204267027 204267027 single base substitution G A upstream_gene_variant PACA-AU 2 204270620 204270620 single base substitution T C downstream_gene_variant PACA-AU 2 204270620 204270620 single base substitution T C intron_variant PACA-AU 2 204274361 204274361 single base substitution A G intron_variant PACA-AU 2 204280989 204280989 deletion of <=200bp T - intron_variant PACA-AU 2 204290332 204290332 deletion of <=200bp T - intron_variant PACA-AU 2 204290576 204290576 single base substitution C T intron_variant PACA-AU 2 204292685 204292685 single base substitution T C 3_prime_UTR_variant PACA-AU 2 204292685 204292685 single base substitution T C downstream_gene_variant PACA-AU 2 204292685 204292685 single base substitution T C intron_variant PACA-AU 2 204294772 204294773 deletion of <=200bp AC - 3_prime_UTR_variant PACA-AU 2 204294772 204294773 deletion of <=200bp AC - downstream_gene_variant PACA-AU 2 204294772 204294773 deletion of <=200bp AC - intron_variant PACA-AU 2 204297193 204297193 single base substitution C G 3_prime_UTR_variant PACA-AU 2 204297193 204297193 single base substitution C G downstream_gene_variant PACA-AU 2 204297193 204297193 single base substitution C G intron_variant PACA-AU 2 204298929 204298929 single base substitution T A 3_prime_UTR_variant PACA-AU 2 204298929 204298929 single base substitution T A downstream_gene_variant PACA-AU 2 204298929 204298929 single base substitution T A intron_variant PACA-AU 2 204302307 204302307 single base substitution T G 3_prime_UTR_variant PACA-AU 2 204302307 204302307 single base substitution T G downstream_gene_variant PACA-AU 2 204310519 204310519 single base substitution T G 3_prime_UTR_variant PACA-AU 2 204317228 204317228 single base substitution G C downstream_gene_variant PACA-CA 2 204188394 204188394 deletion of <=200bp G - upstream_gene_variant PACA-CA 2 204190843 204190843 single base substitution C T upstream_gene_variant PACA-CA 2 204192371 204192371 single base substitution G C upstream_gene_variant PACA-CA 2 204192382 204192382 single base substitution C T upstream_gene_variant PACA-CA 2 204199151 204199151 single base substitution A G intron_variant PACA-CA 2 204199335 204199335 single base substitution A T intron_variant PACA-CA 2 204199758 204199758 single base substitution G A intron_variant PACA-CA 2 204206536 204206536 single base substitution A G intron_variant PACA-CA 2 204209644 204209644 single base substitution T A intron_variant PACA-CA 2 204212753 204212753 single base substitution C A intron_variant PACA-CA 2 204218225 204218225 single base substitution C T intron_variant PACA-CA 2 204222593 204222593 single base substitution A G intron_variant PACA-CA 2 204226707 204226707 single base substitution G C intron_variant PACA-CA 2 204228613 204228613 single base substitution A G intron_variant PACA-CA 2 204232599 204232599 single base substitution C T downstream_gene_variant PACA-CA 2 204232599 204232599 single base substitution C T intron_variant PACA-CA 2 204233520 204233520 single base substitution T G downstream_gene_variant PACA-CA 2 204233520 204233520 single base substitution T G intron_variant PACA-CA 2 204241380 204241380 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 204241380 204241380 deletion of <=200bp T - intron_variant PACA-CA 2 204241380 204241380 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 204242228 204242228 single base substitution A G downstream_gene_variant PACA-CA 2 204242228 204242228 single base substitution A G intron_variant PACA-CA 2 204242228 204242228 single base substitution A G upstream_gene_variant PACA-CA 2 204245122 204245122 single base substitution T C downstream_gene_variant PACA-CA 2 204245122 204245122 single base substitution T C intron_variant PACA-CA 2 204245122 204245122 single base substitution T C upstream_gene_variant PACA-CA 2 204247035 204247035 single base substitution T C downstream_gene_variant PACA-CA 2 204247035 204247035 single base substitution T C intron_variant PACA-CA 2 204253489 204253489 single base substitution G A intron_variant PACA-CA 2 204253489 204253489 single base substitution G A upstream_gene_variant PACA-CA 2 204258802 204258802 single base substitution C T intron_variant PACA-CA 2 204258802 204258802 single base substitution C T upstream_gene_variant PACA-CA 2 204259257 204259257 single base substitution G T intron_variant PACA-CA 2 204259257 204259257 single base substitution G T upstream_gene_variant PACA-CA 2 204262264 204262264 single base substitution G A intron_variant PACA-CA 2 204263472 204263472 insertion of <=200bp - T intron_variant PACA-CA 2 204263472 204263472 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 204263547 204263547 insertion of <=200bp - T intron_variant PACA-CA 2 204263547 204263547 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 204265815 204265815 single base substitution T C intron_variant PACA-CA 2 204265815 204265815 single base substitution T C upstream_gene_variant PACA-CA 2 204268691 204268691 single base substitution G T downstream_gene_variant PACA-CA 2 204268691 204268691 single base substitution G T intron_variant PACA-CA 2 204268740 204268740 single base substitution T G downstream_gene_variant PACA-CA 2 204268740 204268740 single base substitution T G intron_variant PACA-CA 2 204270954 204270954 single base substitution G A downstream_gene_variant PACA-CA 2 204270954 204270954 single base substitution G A intron_variant PACA-CA 2 204278319 204278319 single base substitution C T intron_variant PACA-CA 2 204281139 204281139 single base substitution C A intron_variant PACA-CA 2 204282180 204282180 single base substitution C T downstream_gene_variant PACA-CA 2 204282180 204282180 single base substitution C T intron_variant PACA-CA 2 204282242 204282242 single base substitution C T downstream_gene_variant PACA-CA 2 204282242 204282242 single base substitution C T intron_variant PACA-CA 2 204283883 204283883 single base substitution A C downstream_gene_variant PACA-CA 2 204283883 204283883 single base substitution A C intron_variant PACA-CA 2 204284607 204284607 single base substitution A T downstream_gene_variant PACA-CA 2 204284607 204284607 single base substitution A T intron_variant PACA-CA 2 204285868 204285868 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 204285868 204285868 deletion of <=200bp T - intron_variant PACA-CA 2 204291262 204291262 single base substitution T A intron_variant PACA-CA 2 204294276 204294276 single base substitution T C 3_prime_UTR_variant PACA-CA 2 204294276 204294276 single base substitution T C downstream_gene_variant PACA-CA 2 204294276 204294276 single base substitution T C intron_variant PACA-CA 2 204299983 204299983 single base substitution G C 3_prime_UTR_variant PACA-CA 2 204299983 204299983 single base substitution G C downstream_gene_variant PACA-CA 2 204299983 204299983 single base substitution G C intron_variant PACA-CA 2 204304989 204304989 single base substitution G T 3_prime_UTR_variant PACA-CA 2 204304989 204304989 single base substitution G T downstream_gene_variant PACA-CA 2 204310838 204310838 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 2 204314564 204314564 single base substitution G A downstream_gene_variant PAEN-AU 2 204237284 204237284 single base substitution A C intron_variant PAEN-IT 2 204198711 204198711 single base substitution T G intron_variant PAEN-IT 2 204202785 204202785 single base substitution A G intron_variant PAEN-IT 2 204213584 204213584 single base substitution A T intron_variant PBCA-DE 2 204188473 204188473 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 204190936 204190936 single base substitution G T upstream_gene_variant PBCA-DE 2 204206908 204206908 single base substitution G A intron_variant PBCA-DE 2 204209010 204209010 single base substitution C G intron_variant PBCA-DE 2 204210873 204210873 deletion of <=200bp A - intron_variant PBCA-DE 2 204224736 204224736 single base substitution C T intron_variant PBCA-DE 2 204232979 204232979 insertion of <=200bp - C downstream_gene_variant PBCA-DE 2 204232979 204232979 insertion of <=200bp - C intron_variant PBCA-DE 2 204233146 204233146 deletion of <=200bp G - downstream_gene_variant PBCA-DE 2 204233146 204233146 deletion of <=200bp G - intron_variant PBCA-DE 2 204243141 204243141 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 204243141 204243141 insertion of <=200bp - T intron_variant PBCA-DE 2 204243141 204243141 insertion of <=200bp - T upstream_gene_variant PBCA-DE 2 204262299 204262299 single base substitution A G intron_variant PBCA-DE 2 204269784 204269784 single base substitution G T downstream_gene_variant PBCA-DE 2 204269784 204269784 single base substitution G T intron_variant PBCA-DE 2 204285788 204285788 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 204285788 204285788 insertion of <=200bp - A intron_variant PBCA-DE 2 204295361 204295361 single base substitution C G 3_prime_UTR_variant PBCA-DE 2 204295361 204295361 single base substitution C G downstream_gene_variant PBCA-DE 2 204295361 204295361 single base substitution C G intron_variant PBCA-DE 2 204304815 204304815 single base substitution G T 3_prime_UTR_variant PBCA-DE 2 204304815 204304815 single base substitution G T downstream_gene_variant PRAD-CA 2 204188850 204188850 single base substitution C A upstream_gene_variant PRAD-CA 2 204193730 204193730 single base substitution G T intron_variant PRAD-CA 2 204196571 204196571 single base substitution C T intron_variant PRAD-CA 2 204233690 204233690 single base substitution C T downstream_gene_variant PRAD-CA 2 204233690 204233690 single base substitution C T intron_variant PRAD-CA 2 204254834 204254834 single base substitution T C intron_variant PRAD-CA 2 204254834 204254834 single base substitution T C upstream_gene_variant PRAD-CA 2 204260155 204260155 single base substitution A T intron_variant PRAD-CA 2 204260171 204260171 single base substitution T C intron_variant PRAD-CA 2 204262695 204262695 single base substitution T A intron_variant PRAD-CA 2 204262695 204262695 single base substitution T A upstream_gene_variant PRAD-CA 2 204266653 204266653 single base substitution T A intron_variant PRAD-CA 2 204266653 204266653 single base substitution T A upstream_gene_variant PRAD-CA 2 204303763 204303763 single base substitution G C 3_prime_UTR_variant PRAD-CA 2 204303763 204303763 single base substitution G C downstream_gene_variant PRAD-UK 2 204193941 204193942 deletion of <=200bp AT - intron_variant PRAD-UK 2 204211396 204211396 deletion of <=200bp T - intron_variant PRAD-UK 2 204296521 204296521 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 2 204296521 204296521 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 204296521 204296521 insertion of <=200bp - A intron_variant PRAD-UK 2 204298745 204298745 single base substitution T G 3_prime_UTR_variant PRAD-UK 2 204298745 204298745 single base substitution T G downstream_gene_variant PRAD-UK 2 204298745 204298745 single base substitution T G intron_variant PRAD-UK 2 204300798 204300798 single base substitution A G 3_prime_UTR_variant PRAD-UK 2 204300798 204300798 single base substitution A G downstream_gene_variant PRAD-UK 2 204300798 204300798 single base substitution A G intron_variant PRAD-UK 2 204303776 204303776 single base substitution T C 3_prime_UTR_variant PRAD-UK 2 204303776 204303776 single base substitution T C downstream_gene_variant PRAD-US 2 204304794 204304794 single base substitution A G 3_prime_UTR_variant PRAD-US 2 204304794 204304794 single base substitution A G downstream_gene_variant PRAD-US 2 204305685 204305685 single base substitution G A 3_prime_UTR_variant PRAD-US 2 204305685 204305685 single base substitution G A downstream_gene_variant READ-US 2 204267326 204267326 single base substitution A C 3_prime_UTR_variant READ-US 2 204267326 204267326 single base substitution A C exon_variant READ-US 2 204267326 204267326 single base substitution A C missense_variant N133T 398A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N140T 419A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N157T 470A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N242T 725A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N287T 860A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N299T 896A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N321T 962A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N348T 1043A>C READ-US 2 204267326 204267326 single base substitution A C missense_variant N354T 1061A>C READ-US 2 204267326 204267326 single base substitution A C upstream_gene_variant READ-US 2 204305855 204305855 single base substitution C T 3_prime_UTR_variant READ-US 2 204305855 204305855 single base substitution C T downstream_gene_variant RECA-EU 2 204191562 204191562 single base substitution C T upstream_gene_variant RECA-EU 2 204201403 204201403 single base substitution T C intron_variant RECA-EU 2 204204660 204204660 single base substitution C A intron_variant RECA-EU 2 204239178 204239178 single base substitution T A intron_variant RECA-EU 2 204249023 204249023 single base substitution T G downstream_gene_variant RECA-EU 2 204249023 204249023 single base substitution T G intron_variant RECA-EU 2 204249024 204249024 single base substitution T G downstream_gene_variant RECA-EU 2 204249024 204249024 single base substitution T G intron_variant RECA-EU 2 204249025 204249025 single base substitution T G downstream_gene_variant RECA-EU 2 204249025 204249025 single base substitution T G intron_variant RECA-EU 2 204256423 204256423 single base substitution A G intron_variant RECA-EU 2 204256423 204256423 single base substitution A G upstream_gene_variant RECA-EU 2 204257776 204257776 single base substitution A G intron_variant RECA-EU 2 204257776 204257776 single base substitution A G upstream_gene_variant RECA-EU 2 204259931 204259931 single base substitution T A intron_variant RECA-EU 2 204267609 204267609 single base substitution C T downstream_gene_variant RECA-EU 2 204267609 204267609 single base substitution C T intron_variant RECA-EU 2 204296618 204296618 single base substitution T A 3_prime_UTR_variant RECA-EU 2 204296618 204296618 single base substitution T A downstream_gene_variant RECA-EU 2 204296618 204296618 single base substitution T A intron_variant RECA-EU 2 204299323 204299323 single base substitution A G 3_prime_UTR_variant RECA-EU 2 204299323 204299323 single base substitution A G downstream_gene_variant RECA-EU 2 204299323 204299323 single base substitution A G intron_variant RECA-EU 2 204304747 204304747 single base substitution G A 3_prime_UTR_variant RECA-EU 2 204304747 204304747 single base substitution G A downstream_gene_variant RECA-EU 2 204308137 204308137 single base substitution G A 3_prime_UTR_variant RECA-EU 2 204315731 204315731 single base substitution G T downstream_gene_variant SKCA-BR 2 204191531 204191531 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 2 204192858 204192858 single base substitution A G upstream_gene_variant SKCA-BR 2 204192901 204192901 single base substitution A C upstream_gene_variant SKCA-BR 2 204193595 204193595 single base substitution C T intron_variant SKCA-BR 2 204200396 204200396 single base substitution C T intron_variant SKCA-BR 2 204203643 204203673 deletion of <=200bp GTGTGTGTGTATATGTATATATATATATATA - intron_variant SKCA-BR 2 204203647 204203693 deletion of <=200bp GTGTGTATATGTATATATATATATATATATATATATATAAATATATA - intron_variant SKCA-BR 2 204203649 204203695 deletion of <=200bp GTGTATATGTATATATATATATATATATATATATATAAATATATATA - intron_variant SKCA-BR 2 204203649 204203697 deletion of <=200bp GTGTATATGTATATATATATATATATATATATATATAAATATATATATA - intron_variant SKCA-BR 2 204203651 204203651 single base substitution G A intron_variant SKCA-BR 2 204203659 204203659 single base substitution A G intron_variant SKCA-BR 2 204203663 204203663 single base substitution A G intron_variant SKCA-BR 2 204203670 204203686 deletion of <=200bp TATATATATATATATAA - intron_variant SKCA-BR 2 204203672 204203686 deletion of <=200bp TATATATATATATAA - intron_variant SKCA-BR 2 204203674 204203686 deletion of <=200bp TATATATATATAA - intron_variant SKCA-BR 2 204203745 204203745 single base substitution A G intron_variant SKCA-BR 2 204206896 204206896 single base substitution T C intron_variant SKCA-BR 2 204212737 204212737 single base substitution G A intron_variant SKCA-BR 2 204215585 204215587 deletion of <=200bp TTG - intron_variant SKCA-BR 2 204216271 204216271 single base substitution C T intron_variant SKCA-BR 2 204216271 204216271 single base substitution C T splice_region_variant SKCA-BR 2 204218177 204218177 single base substitution C T intron_variant SKCA-BR 2 204218294 204218294 single base substitution C T intron_variant SKCA-BR 2 204219026 204219026 single base substitution C T intron_variant SKCA-BR 2 204221774 204221774 single base substitution C T intron_variant SKCA-BR 2 204222000 204222000 single base substitution C T intron_variant SKCA-BR 2 204224907 204224908 deletion of <=200bp CA - intron_variant SKCA-BR 2 204228897 204228897 single base substitution A C intron_variant SKCA-BR 2 204231603 204231603 single base substitution G T 3_prime_UTR_variant SKCA-BR 2 204231603 204231603 single base substitution G T 5_prime_UTR_variant SKCA-BR 2 204231603 204231603 single base substitution G T exon_variant SKCA-BR 2 204231603 204231603 single base substitution G T missense_variant A41S 121G>T SKCA-BR 2 204231603 204231603 single base substitution G T splice_region_variant SKCA-BR 2 204233706 204233706 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 2 204233706 204233706 insertion of <=200bp - GA intron_variant SKCA-BR 2 204233708 204233708 single base substitution T A downstream_gene_variant SKCA-BR 2 204233708 204233708 single base substitution T A intron_variant SKCA-BR 2 204236117 204236117 single base substitution A G downstream_gene_variant SKCA-BR 2 204236117 204236117 single base substitution A G intron_variant SKCA-BR 2 204236677 204236677 single base substitution C T downstream_gene_variant SKCA-BR 2 204236677 204236677 single base substitution C T intron_variant SKCA-BR 2 204237103 204237103 single base substitution T C downstream_gene_variant SKCA-BR 2 204237103 204237103 single base substitution T C intron_variant SKCA-BR 2 204238192 204238192 single base substitution G T intron_variant SKCA-BR 2 204238709 204238709 single base substitution C T intron_variant SKCA-BR 2 204238950 204238950 single base substitution C T intron_variant SKCA-BR 2 204247496 204247496 single base substitution C T downstream_gene_variant SKCA-BR 2 204247496 204247496 single base substitution C T intron_variant SKCA-BR 2 204248998 204249004 deletion of <=200bp CTTGTTT - downstream_gene_variant SKCA-BR 2 204248998 204249004 deletion of <=200bp CTTGTTT - intron_variant SKCA-BR 2 204249008 204249013 deletion of <=200bp TTTTTG - downstream_gene_variant SKCA-BR 2 204249008 204249013 deletion of <=200bp TTTTTG - intron_variant SKCA-BR 2 204249009 204249013 deletion of <=200bp TTTTG - downstream_gene_variant SKCA-BR 2 204249009 204249013 deletion of <=200bp TTTTG - intron_variant SKCA-BR 2 204249013 204249013 single base substitution G T downstream_gene_variant SKCA-BR 2 204249013 204249013 single base substitution G T intron_variant SKCA-BR 2 204249023 204249023 single base substitution T G downstream_gene_variant SKCA-BR 2 204249023 204249023 single base substitution T G intron_variant SKCA-BR 2 204249024 204249024 single base substitution T G downstream_gene_variant SKCA-BR 2 204249024 204249024 single base substitution T G intron_variant SKCA-BR 2 204249037 204249037 single base substitution T G downstream_gene_variant SKCA-BR 2 204249037 204249037 single base substitution T G intron_variant SKCA-BR 2 204249040 204249040 single base substitution T G downstream_gene_variant SKCA-BR 2 204249040 204249040 single base substitution T G intron_variant SKCA-BR 2 204251797 204251800 deletion of <=200bp TTTC - downstream_gene_variant SKCA-BR 2 204251797 204251800 deletion of <=200bp TTTC - intron_variant SKCA-BR 2 204251797 204251800 deletion of <=200bp TTTC - upstream_gene_variant SKCA-BR 2 204254790 204254790 single base substitution C T intron_variant SKCA-BR 2 204254790 204254790 single base substitution C T upstream_gene_variant SKCA-BR 2 204258974 204258974 single base substitution T G intron_variant SKCA-BR 2 204258974 204258974 single base substitution T G upstream_gene_variant SKCA-BR 2 204260171 204260171 insertion of <=200bp - TATATACACACACAC intron_variant SKCA-BR 2 204260171 204260171 insertion of <=200bp - TATATACAC intron_variant SKCA-BR 2 204261737 204261737 single base substitution A T intron_variant SKCA-BR 2 204264244 204264244 single base substitution A G intron_variant SKCA-BR 2 204264244 204264244 single base substitution A G upstream_gene_variant SKCA-BR 2 204270245 204270245 single base substitution C T downstream_gene_variant SKCA-BR 2 204270245 204270245 single base substitution C T intron_variant SKCA-BR 2 204271051 204271051 single base substitution C T downstream_gene_variant SKCA-BR 2 204271051 204271051 single base substitution C T intron_variant SKCA-BR 2 204272888 204272889 deletion of <=200bp CT - intron_variant SKCA-BR 2 204274551 204274551 single base substitution G T intron_variant SKCA-BR 2 204278842 204278844 deletion of <=200bp TTG - intron_variant SKCA-BR 2 204283829 204283830 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 204283829 204283830 deletion of <=200bp CT - intron_variant SKCA-BR 2 204284749 204284749 single base substitution A G downstream_gene_variant SKCA-BR 2 204284749 204284749 single base substitution A G intron_variant SKCA-BR 2 204292335 204292335 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 204292335 204292335 single base substitution A G downstream_gene_variant SKCA-BR 2 204292335 204292335 single base substitution A G intron_variant SKCA-BR 2 204298763 204298763 insertion of <=200bp - ATATATATCTATC 3_prime_UTR_variant SKCA-BR 2 204298763 204298763 insertion of <=200bp - ATATATATCTATC downstream_gene_variant SKCA-BR 2 204298763 204298763 insertion of <=200bp - ATATATATCTATC intron_variant SKCA-BR 2 204298781 204298781 insertion of <=200bp - ATC 3_prime_UTR_variant SKCA-BR 2 204298781 204298781 insertion of <=200bp - ATC downstream_gene_variant SKCA-BR 2 204298781 204298781 insertion of <=200bp - ATC intron_variant SKCA-BR 2 204298783 204298783 single base substitution A C 3_prime_UTR_variant SKCA-BR 2 204298783 204298783 single base substitution A C downstream_gene_variant SKCA-BR 2 204298783 204298783 single base substitution A C intron_variant SKCA-BR 2 204308784 204308784 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 204315978 204315978 single base substitution A G downstream_gene_variant SKCM-US 2 204231653 204231653 single base substitution C T 3_prime_UTR_variant SKCM-US 2 204231653 204231653 single base substitution C T 5_prime_UTR_variant SKCM-US 2 204231653 204231653 single base substitution C T exon_variant SKCM-US 2 204231653 204231653 single base substitution C T synonymous_variant S57S 171C>T SKCM-US 2 204231698 204231698 single base substitution C T 3_prime_UTR_variant SKCM-US 2 204231698 204231698 single base substitution C T downstream_gene_variant SKCM-US 2 204231698 204231698 single base substitution C T exon_variant SKCM-US 2 204231698 204231698 single base substitution C T missense_variant S2F 5C>T SKCM-US 2 204231698 204231698 single base substitution C T synonymous_variant V72V 216C>T SKCM-US 2 204304836 204304836 single base substitution T G 3_prime_UTR_variant SKCM-US 2 204304836 204304836 single base substitution T G downstream_gene_variant SKCM-US 2 204304926 204304926 single base substitution G A 3_prime_UTR_variant SKCM-US 2 204304926 204304926 single base substitution G A downstream_gene_variant SKCM-US 2 204305427 204305427 single base substitution G T 3_prime_UTR_variant SKCM-US 2 204305427 204305427 single base substitution G T downstream_gene_variant SKCM-US 2 204305456 204305456 single base substitution G T 3_prime_UTR_variant SKCM-US 2 204305456 204305456 single base substitution G T downstream_gene_variant SKCM-US 2 204305768 204305768 single base substitution A G 3_prime_UTR_variant SKCM-US 2 204305768 204305768 single base substitution A G downstream_gene_variant SKCM-US 2 204305977 204305977 single base substitution G C 3_prime_UTR_variant SKCM-US 2 204305977 204305977 single base substitution G C downstream_gene_variant SKCM-US 2 204313555 204313555 single base substitution G A downstream_gene_variant STAD-US 2 204255835 204255835 single base substitution A G 3_prime_UTR_variant STAD-US 2 204255835 204255835 single base substitution A G exon_variant STAD-US 2 204255835 204255835 single base substitution A G intron_variant STAD-US 2 204255835 204255835 single base substitution A G missense_variant S132G 394A>G STAD-US 2 204255835 204255835 single base substitution A G missense_variant S177G 529A>G STAD-US 2 204255835 204255835 single base substitution A G missense_variant S183G 547A>G STAD-US 2 204255835 204255835 single base substitution A G missense_variant S18G 52A>G STAD-US 2 204255835 204255835 single base substitution A G missense_variant S23G 67A>G STAD-US 2 204255835 204255835 single base substitution A G missense_variant S48G 142A>G STAD-US 2 204255835 204255835 single base substitution A G upstream_gene_variant STAD-US 2 204259439 204259439 single base substitution C T 3_prime_UTR_variant STAD-US 2 204259439 204259439 single base substitution C T exon_variant STAD-US 2 204259439 204259439 single base substitution C T intron_variant STAD-US 2 204259439 204259439 single base substitution C T missense_variant R148C 442C>T STAD-US 2 204259439 204259439 single base substitution C T missense_variant R193C 577C>T STAD-US 2 204259439 204259439 single base substitution C T missense_variant R199C 595C>T STAD-US 2 204259439 204259439 single base substitution C T missense_variant R39C 115C>T STAD-US 2 204259439 204259439 single base substitution C T missense_variant R64C 190C>T STAD-US 2 204259439 204259439 single base substitution C T upstream_gene_variant STAD-US 2 204267367 204267367 single base substitution T A 3_prime_UTR_variant STAD-US 2 204267367 204267367 single base substitution T A exon_variant STAD-US 2 204267367 204267367 single base substitution T A missense_variant S147T 439T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S154T 460T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S171T 511T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S256T 766T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S301T 901T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S313T 937T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S335T 1003T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S362T 1084T>A STAD-US 2 204267367 204267367 single base substitution T A missense_variant S368T 1102T>A STAD-US 2 204267367 204267367 single base substitution T A upstream_gene_variant STAD-US 2 204267383 204267383 single base substitution G A 3_prime_UTR_variant STAD-US 2 204267383 204267383 single base substitution G A exon_variant STAD-US 2 204267383 204267383 single base substitution G A missense_variant R152H 455G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R159H 476G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R176H 527G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R261H 782G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R306H 917G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R318H 953G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R340H 1019G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R367H 1100G>A STAD-US 2 204267383 204267383 single base substitution G A missense_variant R373H 1118G>A STAD-US 2 204267383 204267383 single base substitution G A upstream_gene_variant STAD-US 2 204281776 204281776 single base substitution G A 3_prime_UTR_variant STAD-US 2 204281776 204281776 single base substitution G A downstream_gene_variant STAD-US 2 204281776 204281776 single base substitution G A exon_variant STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P225P 675G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P232P 696G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P334P 1002G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P391P 1173G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P408P 1224G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P413P 1239G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P440P 1320G>A STAD-US 2 204281776 204281776 single base substitution G A synonymous_variant P446P 1338G>A STAD-US 2 204281787 204281787 single base substitution G A 3_prime_UTR_variant STAD-US 2 204281787 204281787 single base substitution G A downstream_gene_variant STAD-US 2 204281787 204281787 single base substitution G A exon_variant STAD-US 2 204281787 204281787 single base substitution G A missense_variant R229H 686G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R236H 707G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R338H 1013G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R395H 1184G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R412H 1235G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R417H 1250G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R444H 1331G>A STAD-US 2 204281787 204281787 single base substitution G A missense_variant R450H 1349G>A STAD-US 2 204291994 204291994 single base substitution T G 3_prime_UTR_variant STAD-US 2 204291994 204291994 single base substitution T G downstream_gene_variant STAD-US 2 204291994 204291994 single base substitution T G splice_donor_variant STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G266G 798T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G273G 819T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G375G 1125T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G432G 1296T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G449G 1347T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G454G 1362T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G481G 1443T>G STAD-US 2 204291994 204291994 single base substitution T G synonymous_variant G487G 1461T>G STAD-US 2 204292052 204292052 single base substitution T C 3_prime_UTR_variant STAD-US 2 204292052 204292052 single base substitution T C downstream_gene_variant STAD-US 2 204292052 204292052 single base substitution T C intron_variant STAD-US 2 204292052 204292052 single base substitution T C missense_variant S286P 856T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S293P 877T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S395P 1183T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S452P 1354T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S469P 1405T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S474P 1420T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S501P 1501T>C STAD-US 2 204292052 204292052 single base substitution T C missense_variant S507P 1519T>C STAD-US 2 204304285 204304285 single base substitution G A 3_prime_UTR_variant STAD-US 2 204304285 204304285 single base substitution G A downstream_gene_variant STAD-US 2 204305381 204305381 single base substitution C T 3_prime_UTR_variant STAD-US 2 204305381 204305381 single base substitution C T downstream_gene_variant STAD-US 2 204305619 204305619 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 2 204305619 204305619 insertion of <=200bp - G downstream_gene_variant STAD-US 2 204305798 204305798 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 2 204305798 204305798 deletion of <=200bp G - downstream_gene_variant STAD-US 2 204305798 204305798 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 2 204305798 204305798 insertion of <=200bp - G downstream_gene_variant STAD-US 2 204305854 204305854 single base substitution G A 3_prime_UTR_variant STAD-US 2 204305854 204305854 single base substitution G A downstream_gene_variant STAD-US 2 204309652 204309652 single base substitution A C 3_prime_UTR_variant THCA-SA 2 204299256 204299256 single base substitution C T 3_prime_UTR_variant THCA-SA 2 204299256 204299256 single base substitution C T downstream_gene_variant THCA-SA 2 204299256 204299256 single base substitution C T intron_variant THCA-SA 2 204302396 204302396 single base substitution T C 3_prime_UTR_variant THCA-SA 2 204302396 204302396 single base substitution T C downstream_gene_variant THCA-SA 2 204304214 204304214 single base substitution G A 3_prime_UTR_variant THCA-SA 2 204304214 204304214 single base substitution G A downstream_gene_variant THCA-SA 2 204306433 204306433 single base substitution T C 3_prime_UTR_variant THCA-SA 2 204306433 204306433 single base substitution T C downstream_gene_variant THCA-US 2 204259430 204259430 single base substitution T C 3_prime_UTR_variant THCA-US 2 204259430 204259430 single base substitution T C exon_variant THCA-US 2 204259430 204259430 single base substitution T C intron_variant THCA-US 2 204259430 204259430 single base substitution T C missense_variant S145P 433T>C THCA-US 2 204259430 204259430 single base substitution T C missense_variant S190P 568T>C THCA-US 2 204259430 204259430 single base substitution T C missense_variant S196P 586T>C THCA-US 2 204259430 204259430 single base substitution T C missense_variant S36P 106T>C THCA-US 2 204259430 204259430 single base substitution T C missense_variant S61P 181T>C THCA-US 2 204259430 204259430 single base substitution T C upstream_gene_variant THCA-US 2 204304820 204304820 insertion of <=200bp - T 3_prime_UTR_variant THCA-US 2 204304820 204304820 insertion of <=200bp - T downstream_gene_variant UCEC-US 2 204231627 204231627 single base substitution G T 3_prime_UTR_variant UCEC-US 2 204231627 204231627 single base substitution G T 5_prime_UTR_variant UCEC-US 2 204231627 204231627 single base substitution G T exon_variant UCEC-US 2 204231627 204231627 single base substitution G T stop_gained E49* 145G>T UCEC-US 2 204244967 204244967 single base substitution G T 3_prime_UTR_variant UCEC-US 2 204244967 204244967 single base substitution G T downstream_gene_variant UCEC-US 2 204244967 204244967 single base substitution G T exon_variant UCEC-US 2 204244967 204244967 single base substitution G T intron_variant UCEC-US 2 204244967 204244967 single base substitution G T stop_gained E108* 322G>T UCEC-US 2 204244967 204244967 single base substitution G T stop_gained E63* 187G>T UCEC-US 2 204244967 204244967 single base substitution G T upstream_gene_variant UCEC-US 2 204267324 204267324 single base substitution G T 3_prime_UTR_variant UCEC-US 2 204267324 204267324 single base substitution G T exon_variant UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M132I 396G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M139I 417G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M156I 468G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M241I 723G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M286I 858G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M298I 894G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M320I 960G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M347I 1041G>T UCEC-US 2 204267324 204267324 single base substitution G T missense_variant M353I 1059G>T UCEC-US 2 204267324 204267324 single base substitution G T upstream_gene_variant UCEC-US 2 204267369 204267369 single base substitution G A 3_prime_UTR_variant UCEC-US 2 204267369 204267369 single base substitution G A exon_variant UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S147S 441G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S154S 462G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S171S 513G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S256S 768G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S301S 903G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S313S 939G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S335S 1005G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S362S 1086G>A UCEC-US 2 204267369 204267369 single base substitution G A synonymous_variant S368S 1104G>A UCEC-US 2 204267369 204267369 single base substitution G A upstream_gene_variant UCEC-US 2 204304582 204304582 single base substitution A C 3_prime_UTR_variant UCEC-US 2 204304582 204304582 single base substitution A C downstream_gene_variant UCEC-US 2 204304620 204304620 single base substitution G A 3_prime_UTR_variant UCEC-US 2 204304620 204304620 single base substitution G A downstream_gene_variant UCEC-US 2 204305185 204305185 single base substitution G T 3_prime_UTR_variant UCEC-US 2 204305185 204305185 single base substitution G T downstream_gene_variant UCEC-US 2 204309655 204309655 single base substitution C A 3_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_01_B COSM5861546 c.767G>A p.S256N Substitution - Missense 2:203395697-203395697 + pfg043T COSM4765525 c.393_394insACGACC p.E131_R132insTT Insertion - In frame 2:203380315-203380316 + TCGA-06-5411 COSM2153156 c.775C>T p.R259* Substitution - Nonsense 2:203395705-203395705 + PD4127a COSM158825 c.1402G>C p.E468Q Substitution - Missense 2:203427326-203427326 + TCGA-D8-A1XF-01 COSM5224566 c.1456G>A p.D486N Substitution - Missense 2:203427266-203427266 + 11M COSM5576366 c.239C>T p.A80V Substitution - Missense 2:203366998-203366998 + MO_1184 COSM5569652 c.823A>T p.T275S Substitution - Missense 2:203395753-203395753 + DLD1 COSM4624543 c.1202C>T p.T401I Substitution - Missense 2:203416917-203416917 + 8031539 COSM3768918 c.499C>T p.R167C Substitution - Missense 2:203391082-203391082 + TCGA-BR-6802-01 COSM4090356 c.1118G>A p.R373H Substitution - Missense 2:203402660-203402660 + TCGA-A3-3363-01 COSM1494779 c.584T>C p.L195P Substitution - Missense 2:203394723-203394723 + S02246 COSM5679015 c.512C>T p.P171L Substitution - Missense 2:203391095-203391095 + TCGA-AN-A046-01 COSM3838348 c.403C>T p.R135C Substitution - Missense 2:203380325-203380325 + 2492730 COSM5725604 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + sysucc-311T COSM5465372 c.354T>G p.T118T Substitution - coding silent 2:203380276-203380276 + BN22 COSM1614178 c.899C>T p.S300F Substitution - Missense 2:203396833-203396833 + 11M COSM5576367 c.239C>T p.A80V Substitution - Missense 2:203366998-203366998 + C086 COSM5526103 c.12G>C p.L4L Substitution - coding silent 2:203328526-203328526 + TCGA-FP-A4BE-01 COSM4090359 c.1235G>A p.R412H Substitution - Missense 2:203417064-203417064 + KPOPBR-03-T COSM5965343 c.190C>G p.L64V Substitution - Missense 2:203366949-203366949 + 1409_T COSM3962209 c.687T>A p.N229K Substitution - Missense 2:203394826-203394826 + CHC205T COSM217223 c.218T>G p.L73R Substitution - Missense 2:203366977-203366977 + TCGA-BR-8589-01 COSM4090362 c.1461T>G p.G487G Substitution - coding silent 2:203427271-203427271 + TCGA-BT-A0YX-01 COSM418904 c.1329C>G p.I443M Substitution - Missense 2:203427253-203427253 + TCGA-CG-5726-01 COSM4090350 c.547A>G p.S183G Substitution - Missense 2:203391112-203391112 + 8061109 COSM3768921 c.678G>C p.Q226H Substitution - Missense 2:203394799-203394799 + 1409_T COSM3962210 c.705T>A p.N235K Substitution - Missense 2:203394826-203394826 + TCGA-BR-4361-01 COSM4090364 c.1519T>C p.S507P Substitution - Missense 2:203427329-203427329 + ATL075 COSM5708011 c.287C>A p.T96K Substitution - Missense 2:203380209-203380209 + TCGA-BS-A0UF-01 COSM1015122 c.858G>T p.M286I Substitution - Missense 2:203402601-203402601 + CHC1148T COSM4954801 c.62A>G p.D21G Substitution - Missense 2:203328576-203328576 + 5_RESISTANT COSM1724870 c.5C>T p.A2V Substitution - Missense 2:203328519-203328519 + ESCC_84 COSM5636430 c.866C>A p.A289D Substitution - Missense 2:203396800-203396800 + CSCC-31-T COSM4498697 c.525C>T p.P175P Substitution - coding silent 2:203391108-203391108 + PT46 COSM224651 c.403C>T p.R135C Substitution - Missense 2:203380325-203380325 + STC252 COSM5058578 c.497C>T p.P166L Substitution - Missense 2:203391080-203391080 + TCGA-EL-A3T3-01 COSM3983915 c.586T>C p.S196P Substitution - Missense 2:203394707-203394707 + CHC1148T COSM4954802 c.62A>G p.D21G Substitution - Missense 2:203328576-203328576 + CHC1594T COSM4804925 c.51G>C p.R17R Substitution - coding silent 2:203328565-203328565 + TCGA-AP-A056-01 COSM1015120 c.145G>T p.E49* Substitution - Nonsense 2:203366904-203366904 + TCGA-FP-A4BE-01 COSM4090360 c.1349G>A p.R450H Substitution - Missense 2:203417064-203417064 + HCC2998 COSM1669676 c.95A>C p.Y32S Substitution - Missense 2:203328609-203328609 + 587376 COSM1181422 c.692G>T p.R231I Substitution - Missense 2:203394831-203394831 + TCGA-CJ-6031-01 COSM476775 c.564G>A p.R188R Substitution - coding silent 2:203394703-203394703 + 2492729 COSM5725604 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + DLD1 COSM4624542 c.1088C>T p.T363I Substitution - Missense 2:203416917-203416917 + TCGA-EE-A29B-06 COSM3576506 c.216C>T p.V72V Substitution - coding silent 2:203366975-203366975 + STC252 COSM5058579 c.515C>T p.P172L Substitution - Missense 2:203391080-203391080 + tumor_4139696 COSM3357546 c.463-1G>A p.? Unknown 2:203382188-203382188 + HCC2998 COSM1669676 c.95A>C p.Y32S Substitution - Missense 2:203328609-203328609 + CHC1594T COSM4804925 c.51G>C p.R17R Substitution - coding silent 2:203328565-203328565 + B111-Tumor COSM3933511 c.82C>A p.R28R Substitution - coding silent 2:203328596-203328596 + sysucc-274T COSM5476288 c.498G>A p.P166P Substitution - coding silent 2:203391081-203391081 + pfg034T COSM4764425 c.404G>A p.R135H Substitution - Missense 2:203380326-203380326 + 8031539 COSM3768919 c.517C>T p.R173C Substitution - Missense 2:203391082-203391082 + TCGA-BC-A217-01 COSM4936893 c.83G>T p.R28L Substitution - Missense 2:203328597-203328597 + 2492730 COSM5725603 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + 70 COSM5744302 c.745C>T p.R249W Substitution - Missense 2:203395693-203395693 + HCC2998 COSM1669677 c.95A>C p.Y32S Substitution - Missense 2:203328609-203328609 + TCGA-EE-A2MS-06 COSM3576504 c.171C>T p.S57S Substitution - coding silent 2:203366930-203366930 + PD11396a COSM5797241 c.651C>T p.P217P Substitution - coding silent 2:203394790-203394790 + TCGA-06-5411 COSM2153155 c.757C>T p.R253* Substitution - Nonsense 2:203395705-203395705 + TCGA-B0-4814-01 COSM3364508 c.669G>T p.V223V Substitution - coding silent 2:203394808-203394808 + 2492729 COSM5728059 c.1398G>A p.K466K Substitution - coding silent 2:203427208-203427208 + HCC2998 COSM1669677 c.95A>C p.Y32S Substitution - Missense 2:203328609-203328609 + 8060086 COSM4389170 c.22C>T p.L8L Substitution - coding silent 2:203328536-203328536 + TCGA-CG-5726-01 COSM4090349 c.529A>G p.S177G Substitution - Missense 2:203391112-203391112 + CHC205T COSM217223 c.218T>G p.L73R Substitution - Missense 2:203366977-203366977 + TCGA-A6-5661-01 COSM1404668 c.846G>A p.Q282Q Substitution - coding silent 2:203402589-203402589 + TCGA-FD-A3SO-01 COSM3798537 c.320G>A p.R107K Substitution - Missense 2:203380242-203380242 + TCGA-BC-A217-01 COSM4936892 c.83G>T p.R28L Substitution - Missense 2:203328597-203328597 + BN22T COSM1614178 c.899C>T p.S300F Substitution - Missense 2:203396833-203396833 + ESCC_BICR_060T COSM5435036 c.388C>A p.L130I Substitution - Missense 2:203380310-203380310 + QC2-22-T2 COSM4308825 c.1143T>A p.P381P Substitution - coding silent 2:203416972-203416972 + 2492727 COSM5725603 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + CSCC-31-T COSM4498698 c.543C>T p.P181P Substitution - coding silent 2:203391108-203391108 + TCGA-AN-A046-01 COSM224651 c.403C>T p.R135C Substitution - Missense 2:203380325-203380325 + WT027 COSM5351916 c.89C>T p.A30V Substitution - Missense 2:203328603-203328603 + LOVO COSM2908521 c.1496T>C p.L499P Substitution - Missense 2:203427306-203427306 + CHC205T COSM217223 c.218T>G p.L73R Substitution - Missense 2:203366977-203366977 + TCGA-A6-5661-01 COSM5088981 c.1047G>A p.Q349Q Substitution - coding silent 2:203402589-203402589 + PD11396a COSM5797242 c.669C>T p.P223P Substitution - coding silent 2:203394790-203394790 + Pat_40_A COSM5861549 c.1513G>A p.V505I Substitution - Missense 2:203427323-203427323 + TCGA-B0-4814-01 COSM3364509 c.687G>T p.V229V Substitution - coding silent 2:203394808-203394808 + sysucc-274T COSM5476289 c.516G>A p.P172P Substitution - coding silent 2:203391081-203391081 + 8061109 COSM3768920 c.660G>C p.Q220H Substitution - Missense 2:203394799-203394799 + TCGA-C5-A1ML-01 COSM4837576 c.1382T>G p.L461R Substitution - Missense 2:203427306-203427306 + TCGA-EL-A3T3-01 COSM3983914 c.568T>C p.S190P Substitution - Missense 2:203394707-203394707 + Pat_01_B COSM5861545 c.749G>A p.S250N Substitution - Missense 2:203395697-203395697 + DN11135 COSM5960558 c.473G>A p.R158K Substitution - Missense 2:203382199-203382199 + CHC1148T COSM4954801 c.62A>G p.D21G Substitution - Missense 2:203328576-203328576 + TCGA-FP-A4BE-01 COSM4090357 c.1224G>A p.P408P Substitution - coding silent 2:203417053-203417053 + pfg034T COSM4764424 c.404G>A p.R135H Substitution - Missense 2:203380326-203380326 + 2492729 COSM5725603 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + YULONE COSM5395977 c.917_918GC>AT p.R306H Substitution - Missense 2:203402660-203402661 + CHC1148T COSM4954802 c.62A>G p.D21G Substitution - Missense 2:203328576-203328576 + ESCC_BICR_060T COSM5435035 c.388C>A p.L130I Substitution - Missense 2:203380310-203380310 + 587262 COSM1181421 c.1386T>G p.F462L Substitution - Missense 2:203427310-203427310 + PR-00-1165 COSM242753 c.1401T>C p.V467V Substitution - coding silent 2:203427325-203427325 + TCGA-C5-A1ML-01 COSM4837577 c.1496T>G p.L499R Substitution - Missense 2:203427306-203427306 + OSCC-GB_00870111 COSM4881583 c.560G>T p.G187V Substitution - Missense 2:203391143-203391143 + WT027 COSM5351915 c.89C>T p.A30V Substitution - Missense 2:203328603-203328603 + Gp2D COSM4627974 c.487A>G p.T163A Substitution - Missense 2:203391052-203391052 + TCGA-BR-6802-01 COSM4090355 c.917G>A p.R306H Substitution - Missense 2:203402660-203402660 + TCGA-BR-8589-01 COSM4090361 c.1347T>G p.G449G Substitution - coding silent 2:203427271-203427271 + TCGA-42-2582-01 COSM1326512 c.1414C>T p.H472Y Substitution - Missense 2:203427338-203427338 + Gp2D COSM4627973 c.469A>G p.T157A Substitution - Missense 2:203391052-203391052 + pfg053T COSM4764427 c.551C>T p.P184L Substitution - Missense 2:203391116-203391116 + TCGA-CD-A4MG-01 COSM4090352 c.595C>T p.R199C Substitution - Missense 2:203394716-203394716 + Pat_40_A COSM5861548 c.1399G>A p.V467I Substitution - Missense 2:203427323-203427323 + ESO-111 COSM1244020 c.672G>A p.R224R Substitution - coding silent 2:203394811-203394811 + TCGA-FD-A3SO-01 COSM3798538 c.320G>A p.R107K Substitution - Missense 2:203380242-203380242 + QC2-22-T2 COSM4308826 c.1257T>A p.P419P Substitution - coding silent 2:203416972-203416972 + pfg043T COSM4765526 c.393_394insACGACC p.E131_R132insTT Insertion - In frame 2:203380315-203380316 + TCGA-HU-8602-01 COSM4090353 c.901T>A p.S301T Substitution - Missense 2:203402644-203402644 + CHC1594T COSM4804926 c.51G>C p.R17R Substitution - coding silent 2:203328565-203328565 + C086 COSM5526102 c.12G>C p.L4L Substitution - coding silent 2:203328526-203328526 + KPOPBR-03-T COSM5965342 c.190C>G p.L64V Substitution - Missense 2:203366949-203366949 + PT46 COSM3838348 c.403C>T p.R135C Substitution - Missense 2:203380325-203380325 + TCGA-AC-A23H-01 COSM3838350 c.535C>G p.Q179E Substitution - Missense 2:203391100-203391100 + TCGA-F5-6814-01 COSM3425971 c.860A>C p.N287T Substitution - Missense 2:203402603-203402603 + TCGA-FP-A4BE-01 COSM4090358 c.1338G>A p.P446P Substitution - coding silent 2:203417053-203417053 + 5_RESISTANT COSM1724871 c.5C>T p.A2V Substitution - Missense 2:203328519-203328519 + 8060086 COSM4389169 c.22C>T p.L8L Substitution - coding silent 2:203328536-203328536 + OSCC-GB_00870111 COSM4881584 c.578G>T p.G193V Substitution - Missense 2:203391143-203391143 + TCGA-06-5411-01 COSM2153155 c.757C>T p.R253* Substitution - Nonsense 2:203395705-203395705 + TCGA-06-5411-01 COSM2153156 c.775C>T p.R259* Substitution - Nonsense 2:203395705-203395705 + HCC078T COSM5806084 c.259G>T p.E87* Substitution - Nonsense 2:203367018-203367018 + pfg053T COSM4764426 c.533C>T p.P178L Substitution - Missense 2:203391116-203391116 + 2492727 COSM5725604 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + TCGA-CD-A4MG-01 COSM4090351 c.577C>T p.R193C Substitution - Missense 2:203394716-203394716 + RK072_C01 COSM1631748 c.1374G>A p.V458V Substitution - coding silent 2:203427298-203427298 + 70 COSM5744303 c.763C>T p.R255W Substitution - Missense 2:203395693-203395693 + 2492728 COSM5725603 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + CHC205T COSM5349050 c.218T>G p.L73R Substitution - Missense 2:203366977-203366977 + TCGA-D1-A103-01 COSM1015123 c.903G>A p.S301S Substitution - coding silent 2:203402646-203402646 + 2492728 COSM5725604 c.372T>G p.I124M Substitution - Missense 2:203380294-203380294 + TCGA-EE-A2MS-06 COSM3576503 c.171C>T p.S57S Substitution - coding silent 2:203366930-203366930 + TCGA-EE-A29B-06 COSM3576505 c.216C>T p.V72V Substitution - coding silent 2:203366975-203366975 + ME012T COSM224651 c.403C>T p.R135C Substitution - Missense 2:203380325-203380325 + LOVO COSM2908520 c.1382T>C p.L461P Substitution - Missense 2:203427306-203427306 + HCC078T COSM5806083 c.259G>T p.E87* Substitution - Nonsense 2:203367018-203367018 + sysucc-311T COSM5465373 c.354T>G p.T118T Substitution - coding silent 2:203380276-203380276 + TCGA-AX-A0J0-01 COSM1015121 c.322G>T p.E108* Substitution - Nonsense 2:203380244-203380244 + MO_1184 COSM5569651 c.805A>T p.T269S Substitution - Missense 2:203395753-203395753 + TCGA-AC-A23H-01 COSM3838349 c.517C>G p.Q173E Substitution - Missense 2:203391100-203391100 + YULONE COSM5395978 c.1118_1119GC>AT p.R373H Substitution - Missense 2:203402660-203402661 + TCGA-CM-5344-01 COSM5157363 c.1185G>T p.Q395H Substitution - Missense 2:203402727-203402727 + ATL075 COSM5708010 c.287C>A p.T96K Substitution - Missense 2:203380209-203380209 + TCGA-HU-8602-01 COSM4090354 c.1102T>A p.S368T Substitution - Missense 2:203402644-203402644 + TCGA-BR-4361-01 COSM4090363 c.1405T>C p.S469P Substitution - Missense 2:203427329-203427329 + S02246 COSM5679016 c.530C>T p.P177L Substitution - Missense 2:203391095-203391095 + WA16 COSM238647 c.875G>A p.R292H Substitution - Missense 2:203402618-203402618 + TCGA-F5-6814-01 COSM3425972 c.1061A>C p.N354T Substitution - Missense 2:203402603-203402603 + TCGA-CM-5344-01 COSM1404669 c.984G>T p.Q328H Substitution - Missense 2:203402727-203402727 + 2492729 COSM5728058 c.1284G>A p.K428K Substitution - coding silent 2:203427208-203427208 + RK007_C01 COSM1631747 c.1186G>A p.V396I Substitution - Missense 2:203417015-203417015 + B111-Tumor COSM3933510 c.82C>A p.R28R Substitution - coding silent 2:203328596-203328596 + TCGA-A3-3387-01 COSM476776 c.923C>A p.P308H Substitution - Missense 2:203402666-203402666 + TCGA-D1-A17Q-01 COSM1015120 c.145G>T p.E49* Substitution - Nonsense 2:203366904-203366904 + TCGA-BP-5183-01 COSM476777 c.1084G>T p.D362Y Substitution - Missense 2:203416913-203416913 + CHC1594T COSM4804926 c.51G>C p.R17R Substitution - coding silent 2:203328565-203328565 + TCGA-D8-A1XF-01 COSM1482670 c.1342G>A p.D448N Substitution - Missense 2:203427266-203427266 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.471148;Hs.471156 2q33 606442

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1425+4004A>C 2 204296076 HC A G Missense p.S177G c.529A>G 2 204255835 STAD A T 3-UTRSNV . c.1425+3126A>T 2 204295198 DLBCL A T IntronicSNV . c.285+101A>T 2 204231868 CM C A Missense p.P308H c.923C>A 2 204267389 RCCC C A Synonymous p.T114T c.342C>A 2 204244987 CM C G 3-UTRSNV . c.1425+3289C>G 2 204295361 MB C G Missense p.D447E c.1341C>G 2 204291988 HNSC C G Missense p.I443M c.1329C>G 2 204291976 BLCA C G Synonymous p.A290A c.870C>G 2 204267336 LUAD C G Synonymous p.P217P c.651C>G 2 204259513 LUAD C T Missense p.P133S c.397C>T 2 204245042 LUAD C T Missense p.P140L c.419C>T 2 204245064 LUAD C T Missense p.R135C c.403C>T 2 204245048 CM C T Missense p.S81F c.242C>T 2 204231724 CM C T Nonsense p.R253* c.757C>T 2 204260428 GBM C T Synonymous p.S57S c.171C>T 2 204231653 CM C T Synonymous p.V72V c.216C>T 2 204231698 CM G A Missense p.D448N c.1342G>A 2 204291989 BRCA G A Missense p.G464R c.1390G>A 2 204292037 CM G A Missense p.R306H c.917G>A 2 204267383 STAD G A Missense p.V396I c.1186G>A 2 204281738 HC G A Synonymous p.R188R c.564G>A 2 204259426 LUAD G A Synonymous p.R224R c.672G>A 2 204259534 ESCA G C Missense p.D21H c.61G>C 2 204193298 LUAD G C Missense p.E468Q c.1402G>C 2 204292049 BRCA G T Missense p.D362Y c.1084G>T 2 204281636 RCCC G T Missense p.L415F c.1245G>T 2 204281797 MM G T Synonymous p.V223V c.669G>T 2 204259531 RCCC T A Missense p.L316H c.947T>A 2 204267413 THCA T A Missense p.M180K c.539T>A 2 204255845 HNSC T C Missense p.S190P c.568T>C 2 204259430 THCA T G Missense p.L73R c.218T>G 2 204231700 HC