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 6 34494142 34494142 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr6:34494142G>C c.60G>C c.(58-60)tgG>tgC p.W20C BLCA 6 34494143 34494143 + Nonsense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr6:34494143G>T c.61G>T c.(61-63)Gag>Tag p.E21* BLCA 6 34496540 34496540 + Missense_Mutation SNP G G C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr6:34496540G>C c.342G>C c.(340-342)aaG>aaC p.K114N BLCA 6 34497473 34497473 + Missense_Mutation SNP G G C TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr6:34497473G>C c.643G>C c.(643-645)Gat>Cat p.D215H BLCA 6 34498278 34498278 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr6:34498278G>C c.951G>C c.(949-951)gaG>gaC p.E317D BLCA 6 34499486 34499486 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr6:34499486G>A c.1147G>A c.(1147-1149)Gac>Aac p.D383N BLCA 6 34499518 34499518 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr6:34499518C>T c.1179C>T c.(1177-1179)ctC>ctT p.L393L BLCA 6 34499551 34499551 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr6:34499551C>G c.1212C>G c.(1210-1212)ctC>ctG p.L404L BRCA 6 34497536 34497536 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:34497536C>A c.706C>A c.(706-708)Caa>Aaa p.Q236K BRCA 6 34499505 34499505 + Missense_Mutation SNP G G A TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr6:34499505G>A c.1166G>A c.(1165-1167)cGc>cAc p.R389H COAD 6 34496556 34496556 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34496556G>A c.358G>A c.(358-360)Gcc>Acc p.A120T COAD 6 34496589 34496589 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:34496589G>A c.391G>A c.(391-393)Gag>Aag p.E131K COAD 6 34497539 34497539 + Missense_Mutation SNP T T A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34497539T>A c.709T>A c.(709-711)Ttt>Att p.F237I COAD 6 34497612 34497612 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34497612A>C c.782A>C c.(781-783)aAc>aCc p.N261T COAD 6 34498093 34498093 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:34498093C>T c.862C>T c.(862-864)Cgc>Tgc p.R288C COAD 6 34498248 34498248 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:34498248A>G c.921A>G c.(919-921)ccA>ccG p.P307P COAD 6 34498324 34498324 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:34498324delG c.997delG c.(997-999)gggfs p.G333fs COAD 6 34498365 34498365 + Splice_Site SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:34498365G>A c.e8+1 COAD 6 34499407 34499407 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:34499407C>T c.1068C>T c.(1066-1068)taC>taT p.Y356Y COAD 6 34499507 34499507 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:34499507delG c.1168delG c.(1168-1170)gtgfs p.V390fs COAD 6 34499545 34499545 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:34499545C>T c.1206C>T c.(1204-1206)gaC>gaT p.D402D COADREAD 6 34496556 34496556 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34496556G>A c.358G>A c.(358-360)Gcc>Acc p.A120T COADREAD 6 34496557 34496557 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr6:34496557C>T c.359C>T c.(358-360)gCc>gTc p.A120V COADREAD 6 34496589 34496589 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:34496589G>A c.391G>A c.(391-393)Gag>Aag p.E131K COADREAD 6 34497539 34497539 + Missense_Mutation SNP T T A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34497539T>A c.709T>A c.(709-711)Ttt>Att p.F237I COADREAD 6 34497612 34497612 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34497612A>C c.782A>C c.(781-783)aAc>aCc p.N261T COADREAD 6 34498093 34498093 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:34498093C>T c.862C>T c.(862-864)Cgc>Tgc p.R288C COADREAD 6 34498248 34498248 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:34498248A>G c.921A>G c.(919-921)ccA>ccG p.P307P COADREAD 6 34498324 34498324 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:34498324delG c.997delG c.(997-999)gggfs p.G333fs COADREAD 6 34498365 34498365 + Splice_Site SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:34498365G>A c.e8+1 COADREAD 6 34499407 34499407 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:34499407C>T c.1068C>T c.(1066-1068)taC>taT p.Y356Y COADREAD 6 34499507 34499507 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:34499507delG c.1168delG c.(1168-1170)gtgfs p.V390fs COADREAD 6 34499545 34499545 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:34499545C>T c.1206C>T c.(1204-1206)gaC>gaT p.D402D GBMLGG 6 34495256 34495256 + Frame_Shift_Del DEL A A - TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr6:34495256delA c.211delA c.(211-213)atcfs p.I71fs GBMLGG 6 34498365 34498365 + Splice_Site SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr6:34498365G>A c.e8+1 HNSC 6 34496436 34496436 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr6:34496436C>T c.238C>T c.(238-240)Ctg>Ttg p.L80L HNSC 6 34497235 34497235 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:34497235G>A c.518G>A c.(517-519)cGg>cAg p.R173Q HNSC 6 34498110 34498110 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr6:34498110C>T c.879C>T c.(877-879)ccC>ccT p.P293P HNSC 6 34499414 34499414 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr6:34499414G>A c.1075G>A c.(1075-1077)Gag>Aag p.E359K HNSC 6 34499414 34499414 + Missense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr6:34499414G>A c.1075G>A c.(1075-1077)Gag>Aag p.E359K HNSC 6 34499521 34499521 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr6:34499521C>T c.1182C>T c.(1180-1182)taC>taT p.Y394Y KIPAN 6 34499375 34499375 + Splice_Site SNP A A C TCGA-BP-4972-01A-01D-1462-08 TCGA-BP-4972-11A-01D-1462-08 g.chr6:34499375A>C c.e9-1 KIRC 6 34499375 34499375 + Splice_Site SNP A A C TCGA-BP-4972-01A-01D-1462-08 TCGA-BP-4972-11A-01D-1462-08 g.chr6:34499375A>C c.e9-1 LGG 6 34495256 34495256 + Frame_Shift_Del DEL A A - TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr6:34495256delA c.211delA c.(211-213)atcfs p.I71fs LGG 6 34498365 34498365 + Splice_Site SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr6:34498365G>A c.e8+1 LIHC 6 34494117 34494117 + Missense_Mutation SNP C C A TCGA-XR-A8TG-01A-11D-A35Z-10 TCGA-XR-A8TG-10A-01D-A35Z-10 g.chr6:34494117C>A c.35C>A c.(34-36)cCa>cAa p.P12Q LUAD 6 34496627 34496627 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr6:34496627G>C c.429G>C c.(427-429)caG>caC p.Q143H LUAD 6 34497300 34497300 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr6:34497300G>T c.583G>T c.(583-585)Gtg>Ttg p.V195L LUAD 6 34498311 34498311 + Silent SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr6:34498311G>T c.984G>T c.(982-984)ctG>ctT p.L328L LUAD 6 34499392 34499392 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr6:34499392C>G c.1053C>G c.(1051-1053)gaC>gaG p.D351E LUAD 6 34499478 34499478 + Missense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr6:34499478C>A c.1139C>A c.(1138-1140)cCc>cAc p.P380H LUAD 6 34499494 34499494 + Silent SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr6:34499494C>T c.1155C>T c.(1153-1155)tcC>tcT p.S385S LUSC 6 34498116 34498116 + Missense_Mutation SNP G G A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr6:34498116G>A c.885G>A c.(883-885)atG>atA p.M295I LUSC 6 34499404 34499404 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:34499404C>T c.1065C>T c.(1063-1065)ccC>ccT p.P355P LUSC 6 34499478 34499478 + Missense_Mutation SNP C C T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr6:34499478C>T c.1139C>T c.(1138-1140)cCc>cTc p.P380L LUSC 6 34500248 34500248 + Frame_Shift_Del DEL G G - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr6:34500248delG c.1276delG c.(1276-1278)gggfs p.G426fs PAAD 6 34497247 34497247 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:34497247G>T c.530G>T c.(529-531)aGc>aTc p.S177I PAAD 6 34499506 34499506 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:34499506C>T c.1167C>T c.(1165-1167)cgC>cgT p.R389R PAAD 6 34499564 34499564 + Splice_Site SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr6:34499564G>A c.1225G>A c.(1225-1227)Gga>Aga p.G409R PRAD 6 34498308 34498308 + Silent SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 g.chr6:34498308G>A c.981G>A c.(979-981)gcG>gcA p.A327A PRAD 6 34499460 34499460 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 g.chr6:34499460C>A c.1121C>A c.(1120-1122)aCc>aAc p.T374N PRAD 6 34499497 34499497 + Missense_Mutation SNP G G C TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr6:34499497G>C c.1158G>C c.(1156-1158)aaG>aaC p.K386N READ 6 34496557 34496557 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr6:34496557C>T c.359C>T c.(358-360)gCc>gTc p.A120V SARC 6 34496562 34496562 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr6:34496562C>T c.364C>T c.(364-366)Cac>Tac p.H122Y SKCM 6 34496492 34496492 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr6:34496492C>T c.294C>T c.(292-294)caC>caT p.H98H SKCM 6 34496573 34496573 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:34496573C>T c.375C>T c.(373-375)atC>atT p.I125I SKCM 6 34496597 34496597 + Silent SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr6:34496597G>A c.399G>A c.(397-399)aaG>aaA p.K133K SKCM 6 34497569 34497569 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr6:34497569G>A c.739G>A c.(739-741)Gag>Aag p.E247K SKCM 6 34497596 34497596 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:34497596C>T c.766C>T c.(766-768)Ctc>Ttc p.L256F SKCM 6 34498027 34498027 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr6:34498027C>T c.796C>T c.(796-798)Cat>Tat p.H266Y SKCM 6 34499429 34499429 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr6:34499429G>A c.1090G>A c.(1090-1092)Gag>Aag p.E364K SKCM 6 34499442 34499442 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:34499442C>T c.1103C>T c.(1102-1104)cCc>cTc p.P368L SKCM 6 34499443 34499443 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:34499443C>T c.1104C>T c.(1102-1104)ccC>ccT p.P368P SKCM 6 34499489 34499489 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr6:34499489G>A c.1150G>A c.(1150-1152)Gac>Aac p.D384N SKCM 6 34499498 34499498 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr6:34499498G>A c.1159G>A c.(1159-1161)Gga>Aga p.G387R SKCM 6 34499498 34499498 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:34499498G>A c.1159G>A c.(1159-1161)Gga>Aga p.G387R SKCM 6 34499545 34499545 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr6:34499545C>T c.1206C>T c.(1204-1206)gaC>gaT p.D402D

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 6 34506025 34506025 single base substitution C T downstream_gene_variant BLCA-US 6 34499551 34499551 single base substitution C G downstream_gene_variant BLCA-US 6 34499551 34499551 single base substitution C G synonymous_variant L362L 1086C>G BLCA-US 6 34499551 34499551 single base substitution C G synonymous_variant L404L 1212C>G BOCA-FR 6 34429194 34429194 single base substitution C T upstream_gene_variant BOCA-FR 6 34465454 34465454 single base substitution C T intron_variant BOCA-FR 6 34498261 34498261 single base substitution A T downstream_gene_variant BOCA-FR 6 34498261 34498261 single base substitution A T missense_variant T270S 808A>T BOCA-FR 6 34498261 34498261 single base substitution A T missense_variant T312S 934A>T BRCA-EU 6 34429035 34429035 single base substitution C A upstream_gene_variant BRCA-EU 6 34429926 34429926 single base substitution G T upstream_gene_variant BRCA-EU 6 34431186 34431186 single base substitution A T upstream_gene_variant BRCA-EU 6 34431937 34431937 single base substitution C A upstream_gene_variant BRCA-EU 6 34433824 34433824 single base substitution C G upstream_gene_variant BRCA-EU 6 34436319 34436319 single base substitution C G intron_variant BRCA-EU 6 34437184 34437184 single base substitution G C intron_variant BRCA-EU 6 34437786 34437786 single base substitution C T intron_variant BRCA-EU 6 34439045 34439045 single base substitution T C intron_variant BRCA-EU 6 34439949 34439949 single base substitution T C intron_variant BRCA-EU 6 34440197 34440197 single base substitution G A intron_variant BRCA-EU 6 34443185 34443185 single base substitution G T intron_variant BRCA-EU 6 34443535 34443535 single base substitution C A intron_variant BRCA-EU 6 34443883 34443883 single base substitution C T intron_variant BRCA-EU 6 34446266 34446266 single base substitution C T intron_variant BRCA-EU 6 34447848 34447848 single base substitution C A intron_variant BRCA-EU 6 34447848 34447848 single base substitution C A upstream_gene_variant BRCA-EU 6 34448165 34448165 single base substitution C G intron_variant BRCA-EU 6 34448165 34448165 single base substitution C G upstream_gene_variant BRCA-EU 6 34448177 34448177 deletion of <=200bp T - intron_variant BRCA-EU 6 34448177 34448177 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 34448555 34448555 single base substitution G T intron_variant BRCA-EU 6 34448555 34448555 single base substitution G T upstream_gene_variant BRCA-EU 6 34449688 34449688 single base substitution C G intron_variant BRCA-EU 6 34449688 34449688 single base substitution C G upstream_gene_variant BRCA-EU 6 34449796 34449796 single base substitution G A intron_variant BRCA-EU 6 34449796 34449796 single base substitution G A upstream_gene_variant BRCA-EU 6 34449971 34449971 single base substitution C T intron_variant BRCA-EU 6 34449971 34449971 single base substitution C T upstream_gene_variant BRCA-EU 6 34450991 34450991 single base substitution T C intron_variant BRCA-EU 6 34450991 34450991 single base substitution T C upstream_gene_variant BRCA-EU 6 34453980 34453980 single base substitution G T intron_variant BRCA-EU 6 34454884 34454884 single base substitution G A intron_variant BRCA-EU 6 34455666 34455666 single base substitution G A intron_variant BRCA-EU 6 34461271 34461271 single base substitution C T intron_variant BRCA-EU 6 34461452 34461452 single base substitution C T intron_variant BRCA-EU 6 34461856 34461856 single base substitution T C intron_variant BRCA-EU 6 34462250 34462250 single base substitution T A intron_variant BRCA-EU 6 34462662 34462662 single base substitution C T intron_variant BRCA-EU 6 34464494 34464494 single base substitution G A intron_variant BRCA-EU 6 34466246 34466246 deletion of <=200bp T - intron_variant BRCA-EU 6 34468545 34468545 single base substitution C A intron_variant BRCA-EU 6 34468553 34468553 single base substitution A T intron_variant BRCA-EU 6 34468781 34468781 single base substitution T A intron_variant BRCA-EU 6 34469590 34469590 single base substitution G T intron_variant BRCA-EU 6 34469701 34469701 single base substitution C T intron_variant BRCA-EU 6 34470344 34470344 single base substitution G T intron_variant BRCA-EU 6 34472399 34472399 single base substitution C A intron_variant BRCA-EU 6 34472736 34472736 single base substitution C A intron_variant BRCA-EU 6 34472947 34472947 deletion of <=200bp T - intron_variant BRCA-EU 6 34474053 34474053 single base substitution G T intron_variant BRCA-EU 6 34475690 34475690 single base substitution G C intron_variant BRCA-EU 6 34476048 34476048 insertion of <=200bp - T intron_variant BRCA-EU 6 34477457 34477457 single base substitution C G intron_variant BRCA-EU 6 34479621 34479621 single base substitution G C intron_variant BRCA-EU 6 34479621 34479621 single base substitution G C upstream_gene_variant BRCA-EU 6 34479701 34479701 single base substitution G A intron_variant BRCA-EU 6 34479701 34479701 single base substitution G A upstream_gene_variant BRCA-EU 6 34479902 34479902 single base substitution G A intron_variant BRCA-EU 6 34479902 34479902 single base substitution G A upstream_gene_variant BRCA-EU 6 34481729 34481729 single base substitution G A intron_variant BRCA-EU 6 34481729 34481729 single base substitution G A upstream_gene_variant BRCA-EU 6 34482158 34482158 single base substitution A G intron_variant BRCA-EU 6 34482158 34482158 single base substitution A G upstream_gene_variant BRCA-EU 6 34483878 34483878 single base substitution T C intron_variant BRCA-EU 6 34484436 34484436 single base substitution G A intron_variant BRCA-EU 6 34486902 34486902 single base substitution C G intron_variant BRCA-EU 6 34487115 34487115 single base substitution C T intron_variant BRCA-EU 6 34488607 34488607 single base substitution T C intron_variant BRCA-EU 6 34489491 34489491 single base substitution A G intron_variant BRCA-EU 6 34489912 34489912 single base substitution C T intron_variant BRCA-EU 6 34490064 34490064 single base substitution G A intron_variant BRCA-EU 6 34490602 34490602 single base substitution G T intron_variant BRCA-EU 6 34490900 34490900 single base substitution T A intron_variant BRCA-EU 6 34491934 34491934 single base substitution C T intron_variant BRCA-EU 6 34493604 34493604 single base substitution G C intron_variant BRCA-EU 6 34494500 34494500 single base substitution G T intron_variant BRCA-EU 6 34496709 34496709 single base substitution G T downstream_gene_variant BRCA-EU 6 34496709 34496709 single base substitution G T intron_variant BRCA-EU 6 34497694 34497694 single base substitution C T downstream_gene_variant BRCA-EU 6 34497694 34497694 single base substitution C T intron_variant BRCA-EU 6 34500388 34500388 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 34500388 34500388 single base substitution T C downstream_gene_variant BRCA-EU 6 34501904 34501904 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 34501904 34501904 single base substitution G A downstream_gene_variant BRCA-EU 6 34504036 34504036 single base substitution C T downstream_gene_variant BRCA-EU 6 34504521 34504521 single base substitution G C downstream_gene_variant BRCA-EU 6 34504647 34504647 single base substitution A T downstream_gene_variant BRCA-EU 6 34505161 34505162 deletion of <=200bp CA - downstream_gene_variant BRCA-EU 6 34505540 34505540 single base substitution C T downstream_gene_variant BRCA-EU 6 34505705 34505705 single base substitution G C downstream_gene_variant BRCA-EU 6 34505827 34505827 single base substitution G C downstream_gene_variant BRCA-EU 6 34505841 34505841 single base substitution G T downstream_gene_variant BRCA-EU 6 34506054 34506054 single base substitution G C downstream_gene_variant BRCA-EU 6 34506585 34506585 single base substitution A T downstream_gene_variant BRCA-EU 6 34506701 34506701 single base substitution C G downstream_gene_variant BRCA-FR 6 34449796 34449796 single base substitution G A intron_variant BRCA-FR 6 34449796 34449796 single base substitution G A upstream_gene_variant BRCA-FR 6 34449971 34449971 single base substitution C T intron_variant BRCA-FR 6 34449971 34449971 single base substitution C T upstream_gene_variant BRCA-FR 6 34488607 34488607 single base substitution T C intron_variant BRCA-FR 6 34500388 34500388 single base substitution T C 3_prime_UTR_variant BRCA-FR 6 34500388 34500388 single base substitution T C downstream_gene_variant BRCA-FR 6 34504626 34504626 single base substitution G C downstream_gene_variant BRCA-FR 6 34506054 34506054 single base substitution G C downstream_gene_variant BRCA-FR 6 34506701 34506701 single base substitution C G downstream_gene_variant BRCA-UK 6 34447712 34447712 single base substitution C T intron_variant BRCA-US 6 34497536 34497536 single base substitution C A downstream_gene_variant BRCA-US 6 34497536 34497536 single base substitution C A missense_variant Q194K 580C>A BRCA-US 6 34497536 34497536 single base substitution C A missense_variant Q236K 706C>A BRCA-US 6 34499505 34499505 single base substitution G A downstream_gene_variant BRCA-US 6 34499505 34499505 single base substitution G A missense_variant R347H 1040G>A BRCA-US 6 34499505 34499505 single base substitution G A missense_variant R389H 1166G>A BRCA-US 6 34506131 34506131 single base substitution G A downstream_gene_variant BTCA-JP 6 34499428 34499428 single base substitution C T downstream_gene_variant BTCA-JP 6 34499428 34499428 single base substitution C T synonymous_variant D321D 963C>T BTCA-JP 6 34499428 34499428 single base substitution C T synonymous_variant D363D 1089C>T BTCA-JP 6 34506175 34506175 single base substitution T C downstream_gene_variant CESC-US 6 34507169 34507169 single base substitution C G downstream_gene_variant CLLE-ES 6 34471329 34471329 single base substitution T C intron_variant CLLE-ES 6 34485825 34485825 single base substitution C T intron_variant CLLE-ES 6 34490917 34490917 single base substitution A G intron_variant CLLE-ES 6 34493031 34493031 single base substitution T C intron_variant COAD-US 6 34496556 34496556 single base substitution G A downstream_gene_variant COAD-US 6 34496556 34496556 single base substitution G A exon_variant COAD-US 6 34496556 34496556 single base substitution G A missense_variant A120T 358G>A COAD-US 6 34496556 34496556 single base substitution G A missense_variant A78T 232G>A COAD-US 6 34496589 34496589 single base substitution G A downstream_gene_variant COAD-US 6 34496589 34496589 single base substitution G A exon_variant COAD-US 6 34496589 34496589 single base substitution G A missense_variant E131K 391G>A COAD-US 6 34496589 34496589 single base substitution G A missense_variant E89K 265G>A COAD-US 6 34497539 34497539 single base substitution T A downstream_gene_variant COAD-US 6 34497539 34497539 single base substitution T A missense_variant F195I 583T>A COAD-US 6 34497539 34497539 single base substitution T A missense_variant F237I 709T>A COAD-US 6 34497612 34497612 single base substitution A C downstream_gene_variant COAD-US 6 34497612 34497612 single base substitution A C missense_variant N219T 656A>C COAD-US 6 34497612 34497612 single base substitution A C missense_variant N261T 782A>C COAD-US 6 34498093 34498093 single base substitution C T downstream_gene_variant COAD-US 6 34498093 34498093 single base substitution C T missense_variant R246C 736C>T COAD-US 6 34498093 34498093 single base substitution C T missense_variant R288C 862C>T COAD-US 6 34498324 34498324 deletion of <=200bp G - downstream_gene_variant COAD-US 6 34498324 34498324 deletion of <=200bp G - frameshift_variant G291 COAD-US 6 34498324 34498324 deletion of <=200bp G - frameshift_variant G333 COAD-US 6 34498365 34498365 single base substitution G A downstream_gene_variant COAD-US 6 34498365 34498365 single base substitution G A splice_donor_variant COAD-US 6 34499507 34499507 deletion of <=200bp G - downstream_gene_variant COAD-US 6 34499507 34499507 deletion of <=200bp G - frameshift_variant V348 COAD-US 6 34499507 34499507 deletion of <=200bp G - frameshift_variant V390 COAD-US 6 34499545 34499545 single base substitution C T downstream_gene_variant COAD-US 6 34499545 34499545 single base substitution C T synonymous_variant D360D 1080C>T COAD-US 6 34499545 34499545 single base substitution C T synonymous_variant D402D 1206C>T COCA-CN 6 34433678 34433678 single base substitution G T upstream_gene_variant COCA-CN 6 34472047 34472047 single base substitution G A intron_variant COCA-CN 6 34495050 34495050 single base substitution C T intron_variant COCA-CN 6 34495078 34495078 single base substitution G A intron_variant COCA-CN 6 34497167 34497167 single base substitution C T downstream_gene_variant COCA-CN 6 34497167 34497167 single base substitution C T intron_variant COCA-CN 6 34497167 34497167 single base substitution C T splice_region_variant COCA-CN 6 34498293 34498293 single base substitution G A downstream_gene_variant COCA-CN 6 34498293 34498293 single base substitution G A synonymous_variant K280K 840G>A COCA-CN 6 34498293 34498293 single base substitution G A synonymous_variant K322K 966G>A COCA-CN 6 34499440 34499440 single base substitution C G downstream_gene_variant COCA-CN 6 34499440 34499440 single base substitution C G missense_variant N325K 975C>G COCA-CN 6 34499440 34499440 single base substitution C G missense_variant N367K 1101C>G COCA-CN 6 34506130 34506130 single base substitution C T downstream_gene_variant EOPC-DE 6 34453757 34453757 single base substitution G A intron_variant EOPC-DE 6 34475340 34475340 single base substitution A C intron_variant EOPC-DE 6 34499610 34499610 single base substitution G C downstream_gene_variant EOPC-DE 6 34499610 34499610 single base substitution G C intron_variant EOPC-DE 6 34503677 34503677 single base substitution T C downstream_gene_variant ESAD-UK 6 34430037 34430037 single base substitution G A upstream_gene_variant ESAD-UK 6 34431921 34431921 single base substitution A G upstream_gene_variant ESAD-UK 6 34432178 34432178 single base substitution G A upstream_gene_variant ESAD-UK 6 34432920 34432920 single base substitution C A upstream_gene_variant ESAD-UK 6 34432982 34432982 single base substitution C A upstream_gene_variant ESAD-UK 6 34435573 34435573 single base substitution G A intron_variant ESAD-UK 6 34437170 34437170 single base substitution C T intron_variant ESAD-UK 6 34441848 34441848 single base substitution C T intron_variant ESAD-UK 6 34444672 34444672 single base substitution G A intron_variant ESAD-UK 6 34445150 34445151 deletion of <=200bp AG - intron_variant ESAD-UK 6 34445180 34445183 deletion of <=200bp AAGA - intron_variant ESAD-UK 6 34447332 34447332 single base substitution C T intron_variant ESAD-UK 6 34447802 34447802 single base substitution C T intron_variant ESAD-UK 6 34448455 34448455 deletion of <=200bp A - intron_variant ESAD-UK 6 34448455 34448455 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 34451557 34451557 single base substitution G T intron_variant ESAD-UK 6 34451557 34451557 single base substitution G T upstream_gene_variant ESAD-UK 6 34452571 34452571 single base substitution T A intron_variant ESAD-UK 6 34452571 34452571 single base substitution T A upstream_gene_variant ESAD-UK 6 34453249 34453249 single base substitution G A intron_variant ESAD-UK 6 34453868 34453868 single base substitution C A intron_variant ESAD-UK 6 34454777 34454777 single base substitution C A intron_variant ESAD-UK 6 34455496 34455496 single base substitution C T intron_variant ESAD-UK 6 34457012 34457012 single base substitution T A intron_variant ESAD-UK 6 34459153 34459153 single base substitution C A intron_variant ESAD-UK 6 34462434 34462434 single base substitution T A intron_variant ESAD-UK 6 34463150 34463150 single base substitution G A intron_variant ESAD-UK 6 34465932 34465932 single base substitution G A intron_variant ESAD-UK 6 34466545 34466545 single base substitution G C intron_variant ESAD-UK 6 34470129 34470129 single base substitution A C intron_variant ESAD-UK 6 34475340 34475340 single base substitution A C intron_variant ESAD-UK 6 34476719 34476719 deletion of <=200bp T - intron_variant ESAD-UK 6 34477347 34477347 single base substitution T A intron_variant ESAD-UK 6 34477959 34477959 single base substitution C T intron_variant ESAD-UK 6 34477959 34477959 single base substitution C T upstream_gene_variant ESAD-UK 6 34481229 34481229 single base substitution G T intron_variant ESAD-UK 6 34481229 34481229 single base substitution G T upstream_gene_variant ESAD-UK 6 34482432 34482432 single base substitution G A intron_variant ESAD-UK 6 34482432 34482432 single base substitution G A upstream_gene_variant ESAD-UK 6 34482739 34482739 single base substitution G A 5_prime_UTR_variant ESAD-UK 6 34482739 34482739 single base substitution G A exon_variant ESAD-UK 6 34482739 34482739 single base substitution G A intron_variant ESAD-UK 6 34482916 34482916 single base substitution C T intron_variant ESAD-UK 6 34484407 34484407 single base substitution C T intron_variant ESAD-UK 6 34484427 34484427 single base substitution C G intron_variant ESAD-UK 6 34484521 34484521 single base substitution G T intron_variant ESAD-UK 6 34484574 34484574 single base substitution G A intron_variant ESAD-UK 6 34485967 34485967 single base substitution G A intron_variant ESAD-UK 6 34486735 34486735 single base substitution T C intron_variant ESAD-UK 6 34492922 34492922 single base substitution C T intron_variant ESAD-UK 6 34493433 34493433 single base substitution G T intron_variant ESAD-UK 6 34498380 34498380 single base substitution G C downstream_gene_variant ESAD-UK 6 34498380 34498380 single base substitution G C intron_variant ESAD-UK 6 34499407 34499407 single base substitution C T downstream_gene_variant ESAD-UK 6 34499407 34499407 single base substitution C T synonymous_variant Y314Y 942C>T ESAD-UK 6 34499407 34499407 single base substitution C T synonymous_variant Y356Y 1068C>T ESAD-UK 6 34502716 34502716 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 34506164 34506164 single base substitution C T downstream_gene_variant ESAD-UK 6 34506313 34506313 single base substitution G A downstream_gene_variant ESCA-CN 6 34497463 34497463 single base substitution A G downstream_gene_variant ESCA-CN 6 34497463 34497463 single base substitution A G synonymous_variant K169K 507A>G ESCA-CN 6 34497463 34497463 single base substitution A G synonymous_variant K211K 633A>G ESCA-CN 6 34499769 34499769 single base substitution C G downstream_gene_variant ESCA-CN 6 34499769 34499769 single base substitution C G intron_variant KIRC-US 6 34499375 34499375 single base substitution A C downstream_gene_variant KIRC-US 6 34499375 34499375 single base substitution A C splice_acceptor_variant KIRC-US 6 34506194 34506194 single base substitution G A downstream_gene_variant LGG-US 6 34498365 34498365 single base substitution G A downstream_gene_variant LGG-US 6 34498365 34498365 single base substitution G A splice_donor_variant LICA-CN 6 34497510 34497510 single base substitution T A downstream_gene_variant LICA-CN 6 34497510 34497510 single base substitution T A missense_variant M185K 554T>A LICA-CN 6 34497510 34497510 single base substitution T A missense_variant M227K 680T>A LICA-CN 6 34498328 34498328 single base substitution C A downstream_gene_variant LICA-CN 6 34498328 34498328 single base substitution C A missense_variant A292E 875C>A LICA-CN 6 34498328 34498328 single base substitution C A missense_variant A334E 1001C>A LICA-CN 6 34498339 34498339 single base substitution A G downstream_gene_variant LICA-CN 6 34498339 34498339 single base substitution A G missense_variant T296A 886A>G LICA-CN 6 34498339 34498339 single base substitution A G missense_variant T338A 1012A>G LICA-CN 6 34498360 34498360 single base substitution G A downstream_gene_variant LICA-CN 6 34498360 34498360 single base substitution G A missense_variant G303S 907G>A LICA-CN 6 34498360 34498360 single base substitution G A missense_variant G345S 1033G>A LICA-CN 6 34506180 34506180 single base substitution G T downstream_gene_variant LICA-FR 6 34443500 34443500 single base substitution T C intron_variant LICA-FR 6 34450772 34450772 single base substitution G T intron_variant LICA-FR 6 34450772 34450772 single base substitution G T upstream_gene_variant LICA-FR 6 34462669 34462669 single base substitution A G intron_variant LICA-FR 6 34466059 34466059 single base substitution G A intron_variant LICA-FR 6 34473890 34473890 single base substitution C A intron_variant LICA-FR 6 34488178 34488178 single base substitution G A intron_variant LICA-FR 6 34488485 34488504 deletion of <=200bp GAGGACGGAGGAAGCCATGC - intron_variant LICA-FR 6 34496468 34496468 single base substitution G A downstream_gene_variant LICA-FR 6 34496468 34496468 single base substitution G A exon_variant LICA-FR 6 34496468 34496468 single base substitution G A synonymous_variant E48E 144G>A LICA-FR 6 34496468 34496468 single base substitution G A synonymous_variant E90E 270G>A LINC-JP 6 34441017 34441017 single base substitution A G intron_variant LINC-JP 6 34454489 34454489 insertion of <=200bp - G intron_variant LINC-JP 6 34493706 34493706 single base substitution G T intron_variant LINC-JP 6 34495462 34495462 deletion of <=200bp A - exon_variant LINC-JP 6 34495462 34495462 deletion of <=200bp A - intron_variant LINC-JP 6 34496090 34496090 single base substitution A G downstream_gene_variant LINC-JP 6 34496090 34496090 single base substitution A G intron_variant LINC-JP 6 34496758 34496758 single base substitution C T downstream_gene_variant LINC-JP 6 34496758 34496758 single base substitution C T intron_variant LINC-JP 6 34497683 34497683 insertion of <=200bp - G downstream_gene_variant LINC-JP 6 34497683 34497683 insertion of <=200bp - G intron_variant LINC-JP 6 34498098 34498098 single base substitution C T downstream_gene_variant LINC-JP 6 34498098 34498098 single base substitution C T synonymous_variant S247S 741C>T LINC-JP 6 34498098 34498098 single base substitution C T synonymous_variant S289S 867C>T LINC-JP 6 34507014 34507014 single base substitution G A downstream_gene_variant LINC-JP 6 34507348 34507348 single base substitution C A downstream_gene_variant LIRI-JP 6 34429773 34429773 single base substitution C T upstream_gene_variant LIRI-JP 6 34432945 34432945 single base substitution T C upstream_gene_variant LIRI-JP 6 34434044 34434044 single base substitution C A 5_prime_UTR_variant LIRI-JP 6 34437142 34437142 single base substitution C G intron_variant LIRI-JP 6 34438870 34438870 single base substitution C T intron_variant LIRI-JP 6 34441952 34441952 single base substitution T C intron_variant LIRI-JP 6 34441990 34441990 single base substitution G A intron_variant LIRI-JP 6 34442423 34442423 single base substitution C T intron_variant LIRI-JP 6 34443215 34443215 single base substitution A T intron_variant LIRI-JP 6 34446720 34446720 single base substitution A T intron_variant LIRI-JP 6 34447746 34447746 single base substitution G T intron_variant LIRI-JP 6 34448931 34448931 single base substitution C A intron_variant LIRI-JP 6 34448931 34448931 single base substitution C A upstream_gene_variant LIRI-JP 6 34449182 34449182 single base substitution G T intron_variant LIRI-JP 6 34449182 34449182 single base substitution G T upstream_gene_variant LIRI-JP 6 34449625 34449625 single base substitution G C intron_variant LIRI-JP 6 34449625 34449625 single base substitution G C upstream_gene_variant LIRI-JP 6 34451715 34451715 single base substitution C T intron_variant LIRI-JP 6 34451715 34451715 single base substitution C T upstream_gene_variant LIRI-JP 6 34452471 34452471 single base substitution T C intron_variant LIRI-JP 6 34452471 34452471 single base substitution T C upstream_gene_variant LIRI-JP 6 34453291 34453291 single base substitution G C intron_variant LIRI-JP 6 34458855 34458855 single base substitution T A intron_variant LIRI-JP 6 34459514 34459514 single base substitution G T intron_variant LIRI-JP 6 34467201 34467201 single base substitution C T intron_variant LIRI-JP 6 34470660 34470660 single base substitution A G intron_variant LIRI-JP 6 34470769 34470769 single base substitution C A intron_variant LIRI-JP 6 34470770 34470770 single base substitution C A intron_variant LIRI-JP 6 34473901 34473901 single base substitution A G intron_variant LIRI-JP 6 34474075 34474075 single base substitution G T intron_variant LIRI-JP 6 34474312 34474312 single base substitution A G intron_variant LIRI-JP 6 34475007 34475007 single base substitution G T intron_variant LIRI-JP 6 34475942 34475942 single base substitution G A intron_variant LIRI-JP 6 34477586 34477586 single base substitution T C intron_variant LIRI-JP 6 34481753 34481753 single base substitution T C intron_variant LIRI-JP 6 34481753 34481753 single base substitution T C upstream_gene_variant LIRI-JP 6 34481863 34481863 single base substitution G A intron_variant LIRI-JP 6 34481863 34481863 single base substitution G A upstream_gene_variant LIRI-JP 6 34485510 34485510 single base substitution C T intron_variant LIRI-JP 6 34488159 34488159 single base substitution C T intron_variant LIRI-JP 6 34489305 34489305 single base substitution C A intron_variant LIRI-JP 6 34489404 34489404 single base substitution C T intron_variant LIRI-JP 6 34490472 34490472 single base substitution A T intron_variant LIRI-JP 6 34490646 34490646 single base substitution G T intron_variant LIRI-JP 6 34491815 34491815 single base substitution T C intron_variant LIRI-JP 6 34492244 34492244 single base substitution T C intron_variant LIRI-JP 6 34492740 34492740 single base substitution A G intron_variant LIRI-JP 6 34493129 34493129 single base substitution C T intron_variant LIRI-JP 6 34493928 34493928 single base substitution G T intron_variant LIRI-JP 6 34494323 34494323 single base substitution C A intron_variant LIRI-JP 6 34495854 34495854 single base substitution C T downstream_gene_variant LIRI-JP 6 34495854 34495854 single base substitution C T intron_variant LIRI-JP 6 34495981 34495981 single base substitution G A downstream_gene_variant LIRI-JP 6 34495981 34495981 single base substitution G A intron_variant LIRI-JP 6 34501655 34501655 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 34501655 34501655 single base substitution G A downstream_gene_variant LIRI-JP 6 34504199 34504199 single base substitution C T downstream_gene_variant LUSC-KR 6 34441557 34441557 single base substitution G T intron_variant LUSC-KR 6 34442343 34442343 single base substitution G C intron_variant LUSC-KR 6 34444837 34444837 single base substitution G T intron_variant LUSC-KR 6 34445124 34445124 single base substitution G C intron_variant LUSC-KR 6 34446130 34446130 single base substitution C T intron_variant LUSC-KR 6 34446131 34446131 single base substitution G C intron_variant LUSC-KR 6 34447283 34447283 single base substitution G T intron_variant LUSC-KR 6 34455768 34455768 single base substitution A C intron_variant LUSC-KR 6 34457953 34457953 single base substitution G C intron_variant LUSC-KR 6 34460784 34460784 single base substitution G T intron_variant LUSC-KR 6 34464513 34464513 single base substitution T C intron_variant LUSC-KR 6 34467731 34467731 single base substitution T A intron_variant LUSC-KR 6 34475586 34475586 single base substitution C G intron_variant LUSC-KR 6 34485492 34485492 single base substitution A G intron_variant LUSC-KR 6 34489685 34489685 single base substitution G T intron_variant LUSC-KR 6 34494224 34494224 single base substitution C G intron_variant LUSC-KR 6 34497006 34497006 single base substitution G C downstream_gene_variant LUSC-KR 6 34497006 34497006 single base substitution G C intron_variant LUSC-KR 6 34498328 34498328 single base substitution C T downstream_gene_variant LUSC-KR 6 34498328 34498328 single base substitution C T missense_variant A292V 875C>T LUSC-KR 6 34498328 34498328 single base substitution C T missense_variant A334V 1001C>T LUSC-KR 6 34504449 34504449 single base substitution G A downstream_gene_variant LUSC-US 6 34498116 34498116 single base substitution G A downstream_gene_variant LUSC-US 6 34498116 34498116 single base substitution G A missense_variant M253I 759G>A LUSC-US 6 34498116 34498116 single base substitution G A missense_variant M295I 885G>A LUSC-US 6 34499404 34499404 single base substitution C T downstream_gene_variant LUSC-US 6 34499404 34499404 single base substitution C T synonymous_variant P313P 939C>T LUSC-US 6 34499404 34499404 single base substitution C T synonymous_variant P355P 1065C>T LUSC-US 6 34499478 34499478 single base substitution C T downstream_gene_variant LUSC-US 6 34499478 34499478 single base substitution C T missense_variant P338L 1013C>T LUSC-US 6 34499478 34499478 single base substitution C T missense_variant P380L 1139C>T LUSC-US 6 34500248 34500248 deletion of <=200bp G - downstream_gene_variant LUSC-US 6 34500248 34500248 deletion of <=200bp G - frameshift_variant G384 LUSC-US 6 34500248 34500248 deletion of <=200bp G - frameshift_variant G426 LUSC-US 6 34507062 34507062 single base substitution T C downstream_gene_variant MALY-DE 6 34434469 34434469 single base substitution C T intron_variant MALY-DE 6 34443637 34443637 single base substitution G C intron_variant MALY-DE 6 34449118 34449118 single base substitution C T intron_variant MALY-DE 6 34449118 34449118 single base substitution C T upstream_gene_variant MALY-DE 6 34452571 34452571 single base substitution T A intron_variant MALY-DE 6 34452571 34452571 single base substitution T A upstream_gene_variant MALY-DE 6 34460539 34460539 single base substitution T C intron_variant MALY-DE 6 34467374 34467374 single base substitution C T intron_variant MALY-DE 6 34478374 34478374 single base substitution T G intron_variant MALY-DE 6 34478374 34478374 single base substitution T G upstream_gene_variant MALY-DE 6 34479262 34479262 single base substitution G T intron_variant MALY-DE 6 34479262 34479262 single base substitution G T upstream_gene_variant MALY-DE 6 34487050 34487050 single base substitution A G intron_variant MALY-DE 6 34499948 34499948 single base substitution G C downstream_gene_variant MALY-DE 6 34499948 34499948 single base substitution G C intron_variant MALY-DE 6 34506282 34506282 single base substitution G A downstream_gene_variant MELA-AU 6 34429207 34429207 single base substitution C T upstream_gene_variant MELA-AU 6 34429371 34429371 single base substitution C T upstream_gene_variant MELA-AU 6 34429526 34429526 single base substitution C T upstream_gene_variant MELA-AU 6 34430142 34430142 single base substitution T C upstream_gene_variant MELA-AU 6 34430335 34430335 single base substitution C T upstream_gene_variant MELA-AU 6 34430396 34430396 single base substitution C T upstream_gene_variant MELA-AU 6 34430419 34430420 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 34431023 34431023 single base substitution C T upstream_gene_variant MELA-AU 6 34431034 34431034 single base substitution G A upstream_gene_variant MELA-AU 6 34431206 34431206 single base substitution G A upstream_gene_variant MELA-AU 6 34431561 34431561 single base substitution G A upstream_gene_variant MELA-AU 6 34431612 34431612 single base substitution G A upstream_gene_variant MELA-AU 6 34431713 34431713 single base substitution T G upstream_gene_variant MELA-AU 6 34431811 34431811 single base substitution G A upstream_gene_variant MELA-AU 6 34432058 34432058 single base substitution T A upstream_gene_variant MELA-AU 6 34432142 34432142 single base substitution G A upstream_gene_variant MELA-AU 6 34432204 34432204 single base substitution C T upstream_gene_variant MELA-AU 6 34432237 34432237 single base substitution G A upstream_gene_variant MELA-AU 6 34432289 34432289 single base substitution G A upstream_gene_variant MELA-AU 6 34432298 34432298 single base substitution T A upstream_gene_variant MELA-AU 6 34432421 34432421 single base substitution G A upstream_gene_variant MELA-AU 6 34432489 34432489 single base substitution G A upstream_gene_variant MELA-AU 6 34432835 34432835 single base substitution C T upstream_gene_variant MELA-AU 6 34433236 34433236 single base substitution C T upstream_gene_variant MELA-AU 6 34434434 34434434 single base substitution T A intron_variant MELA-AU 6 34434687 34434687 single base substitution C T intron_variant MELA-AU 6 34434996 34434996 single base substitution C T intron_variant MELA-AU 6 34435249 34435249 single base substitution C T intron_variant MELA-AU 6 34435323 34435323 single base substitution G A intron_variant MELA-AU 6 34435812 34435812 single base substitution C T intron_variant MELA-AU 6 34435996 34435996 single base substitution G A intron_variant MELA-AU 6 34436134 34436134 single base substitution G A intron_variant MELA-AU 6 34436145 34436145 single base substitution G A intron_variant MELA-AU 6 34436194 34436194 single base substitution C T intron_variant MELA-AU 6 34436488 34436488 single base substitution C T intron_variant MELA-AU 6 34436739 34436739 single base substitution C T intron_variant MELA-AU 6 34436827 34436827 single base substitution G A intron_variant MELA-AU 6 34437137 34437137 single base substitution C T intron_variant MELA-AU 6 34437259 34437259 single base substitution C T intron_variant MELA-AU 6 34437295 34437295 single base substitution G A intron_variant MELA-AU 6 34437630 34437630 single base substitution G C intron_variant MELA-AU 6 34437661 34437661 single base substitution G A intron_variant MELA-AU 6 34437820 34437820 single base substitution G A intron_variant MELA-AU 6 34437941 34437942 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34438000 34438000 single base substitution C T intron_variant MELA-AU 6 34438001 34438001 single base substitution C T intron_variant MELA-AU 6 34438023 34438023 single base substitution G A intron_variant MELA-AU 6 34438160 34438160 single base substitution C A intron_variant MELA-AU 6 34438201 34438201 single base substitution C T intron_variant MELA-AU 6 34438538 34438539 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 34438680 34438680 single base substitution C T intron_variant MELA-AU 6 34438688 34438688 single base substitution C T intron_variant MELA-AU 6 34438808 34438808 single base substitution C T intron_variant MELA-AU 6 34438921 34438921 single base substitution C T intron_variant MELA-AU 6 34439253 34439253 single base substitution G A intron_variant MELA-AU 6 34439403 34439403 single base substitution C T intron_variant MELA-AU 6 34439449 34439449 single base substitution G A intron_variant MELA-AU 6 34440455 34440455 single base substitution C T intron_variant MELA-AU 6 34440474 34440474 single base substitution C T intron_variant MELA-AU 6 34440503 34440503 single base substitution C T intron_variant MELA-AU 6 34440648 34440648 single base substitution G A intron_variant MELA-AU 6 34440740 34440740 single base substitution C T intron_variant MELA-AU 6 34440902 34440902 single base substitution C T intron_variant MELA-AU 6 34440937 34440937 single base substitution A C intron_variant MELA-AU 6 34440973 34440973 single base substitution G A intron_variant MELA-AU 6 34441008 34441008 single base substitution C T intron_variant MELA-AU 6 34441181 34441181 single base substitution G A intron_variant MELA-AU 6 34441204 34441204 single base substitution G A intron_variant MELA-AU 6 34441216 34441216 single base substitution C T intron_variant MELA-AU 6 34441256 34441256 single base substitution A C intron_variant MELA-AU 6 34441308 34441308 single base substitution C T intron_variant MELA-AU 6 34441399 34441399 single base substitution C T intron_variant MELA-AU 6 34441444 34441445 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 6 34441607 34441607 single base substitution C T intron_variant MELA-AU 6 34441898 34441898 single base substitution G A intron_variant MELA-AU 6 34442314 34442314 single base substitution C T intron_variant MELA-AU 6 34442386 34442386 single base substitution G A intron_variant MELA-AU 6 34442731 34442732 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34442732 34442732 single base substitution C T intron_variant MELA-AU 6 34442802 34442802 single base substitution C T intron_variant MELA-AU 6 34443039 34443039 single base substitution C T intron_variant MELA-AU 6 34443307 34443307 single base substitution C T intron_variant MELA-AU 6 34443311 34443311 single base substitution C T intron_variant MELA-AU 6 34443585 34443585 single base substitution G A intron_variant MELA-AU 6 34443714 34443714 single base substitution G A intron_variant MELA-AU 6 34443746 34443746 single base substitution G A intron_variant MELA-AU 6 34443985 34443985 single base substitution A G intron_variant MELA-AU 6 34443989 34443989 single base substitution C T intron_variant MELA-AU 6 34444152 34444152 single base substitution G A intron_variant MELA-AU 6 34444171 34444171 single base substitution C T intron_variant MELA-AU 6 34444584 34444584 single base substitution G A intron_variant MELA-AU 6 34444591 34444591 single base substitution C T intron_variant MELA-AU 6 34444832 34444833 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34444998 34444998 single base substitution T C intron_variant MELA-AU 6 34445687 34445687 single base substitution G A intron_variant MELA-AU 6 34445907 34445907 single base substitution G A intron_variant MELA-AU 6 34446093 34446093 single base substitution C T intron_variant MELA-AU 6 34446180 34446180 single base substitution C T intron_variant MELA-AU 6 34447225 34447225 single base substitution C T intron_variant MELA-AU 6 34447233 34447233 single base substitution C T intron_variant MELA-AU 6 34447258 34447258 single base substitution G A intron_variant MELA-AU 6 34447930 34447930 single base substitution A C intron_variant MELA-AU 6 34447930 34447930 single base substitution A C upstream_gene_variant MELA-AU 6 34448093 34448093 single base substitution C T intron_variant MELA-AU 6 34448093 34448093 single base substitution C T upstream_gene_variant MELA-AU 6 34448310 34448310 single base substitution C T intron_variant MELA-AU 6 34448310 34448310 single base substitution C T upstream_gene_variant MELA-AU 6 34448505 34448505 single base substitution T C intron_variant MELA-AU 6 34448505 34448505 single base substitution T C upstream_gene_variant MELA-AU 6 34448896 34448896 single base substitution C G intron_variant MELA-AU 6 34448896 34448896 single base substitution C G upstream_gene_variant MELA-AU 6 34448911 34448911 single base substitution C T intron_variant MELA-AU 6 34448911 34448911 single base substitution C T upstream_gene_variant MELA-AU 6 34449141 34449141 single base substitution C T intron_variant MELA-AU 6 34449141 34449141 single base substitution C T upstream_gene_variant MELA-AU 6 34449233 34449233 single base substitution G A intron_variant MELA-AU 6 34449233 34449233 single base substitution G A upstream_gene_variant MELA-AU 6 34449657 34449657 single base substitution C T intron_variant MELA-AU 6 34449657 34449657 single base substitution C T upstream_gene_variant MELA-AU 6 34449933 34449933 single base substitution G A intron_variant MELA-AU 6 34449933 34449933 single base substitution G A upstream_gene_variant MELA-AU 6 34450204 34450204 single base substitution C T intron_variant MELA-AU 6 34450204 34450204 single base substitution C T upstream_gene_variant MELA-AU 6 34450399 34450399 single base substitution C T intron_variant MELA-AU 6 34450399 34450399 single base substitution C T upstream_gene_variant MELA-AU 6 34450491 34450491 single base substitution C T intron_variant MELA-AU 6 34450491 34450491 single base substitution C T upstream_gene_variant MELA-AU 6 34450556 34450556 single base substitution T C intron_variant MELA-AU 6 34450556 34450556 single base substitution T C upstream_gene_variant MELA-AU 6 34450721 34450721 single base substitution C T intron_variant MELA-AU 6 34450721 34450721 single base substitution C T upstream_gene_variant MELA-AU 6 34451010 34451010 single base substitution T G intron_variant MELA-AU 6 34451010 34451010 single base substitution T G upstream_gene_variant MELA-AU 6 34451117 34451117 single base substitution C T intron_variant MELA-AU 6 34451117 34451117 single base substitution C T upstream_gene_variant MELA-AU 6 34451352 34451352 single base substitution T C intron_variant MELA-AU 6 34451352 34451352 single base substitution T C upstream_gene_variant MELA-AU 6 34451677 34451677 single base substitution C T intron_variant MELA-AU 6 34451677 34451677 single base substitution C T upstream_gene_variant MELA-AU 6 34451848 34451848 single base substitution G A intron_variant MELA-AU 6 34451848 34451848 single base substitution G A upstream_gene_variant MELA-AU 6 34451907 34451907 single base substitution G A intron_variant MELA-AU 6 34451907 34451907 single base substitution G A upstream_gene_variant MELA-AU 6 34452028 34452028 single base substitution G A intron_variant MELA-AU 6 34452028 34452028 single base substitution G A upstream_gene_variant MELA-AU 6 34452029 34452029 single base substitution G A intron_variant MELA-AU 6 34452029 34452029 single base substitution G A upstream_gene_variant MELA-AU 6 34452737 34452737 single base substitution G A intron_variant MELA-AU 6 34452737 34452737 single base substitution G A upstream_gene_variant MELA-AU 6 34452763 34452763 single base substitution G A intron_variant MELA-AU 6 34452763 34452763 single base substitution G A upstream_gene_variant MELA-AU 6 34452862 34452862 single base substitution G A exon_variant MELA-AU 6 34452862 34452862 single base substitution G A intron_variant MELA-AU 6 34452907 34452907 single base substitution C T exon_variant MELA-AU 6 34452907 34452907 single base substitution C T intron_variant MELA-AU 6 34452924 34452924 single base substitution G C intron_variant MELA-AU 6 34453161 34453161 single base substitution G A intron_variant MELA-AU 6 34453516 34453516 single base substitution T G intron_variant MELA-AU 6 34453533 34453533 single base substitution G A intron_variant MELA-AU 6 34453678 34453678 single base substitution G A intron_variant MELA-AU 6 34453681 34453681 single base substitution G A intron_variant MELA-AU 6 34453944 34453944 single base substitution G A intron_variant MELA-AU 6 34454078 34454078 single base substitution G A intron_variant MELA-AU 6 34454084 34454084 single base substitution T C intron_variant MELA-AU 6 34454145 34454145 single base substitution C T intron_variant MELA-AU 6 34454476 34454476 single base substitution C T intron_variant MELA-AU 6 34454489 34454489 single base substitution C T intron_variant MELA-AU 6 34454813 34454813 single base substitution C T intron_variant MELA-AU 6 34454877 34454877 single base substitution G A intron_variant MELA-AU 6 34454931 34454931 single base substitution G A intron_variant MELA-AU 6 34455386 34455386 single base substitution G T intron_variant MELA-AU 6 34455406 34455406 single base substitution G A intron_variant MELA-AU 6 34455484 34455484 single base substitution C A intron_variant MELA-AU 6 34455690 34455690 single base substitution G A intron_variant MELA-AU 6 34455718 34455718 single base substitution C T intron_variant MELA-AU 6 34455941 34455941 single base substitution G A intron_variant MELA-AU 6 34456002 34456002 single base substitution C T intron_variant MELA-AU 6 34456074 34456074 single base substitution C T intron_variant MELA-AU 6 34456396 34456396 single base substitution C T intron_variant MELA-AU 6 34456404 34456404 single base substitution G A intron_variant MELA-AU 6 34456606 34456606 single base substitution G A intron_variant MELA-AU 6 34456708 34456708 single base substitution A G intron_variant MELA-AU 6 34457330 34457330 single base substitution C T intron_variant MELA-AU 6 34457393 34457393 single base substitution C T intron_variant MELA-AU 6 34457673 34457673 single base substitution C T intron_variant MELA-AU 6 34457914 34457914 single base substitution G A intron_variant MELA-AU 6 34458040 34458040 single base substitution C T intron_variant MELA-AU 6 34458355 34458355 single base substitution G A intron_variant MELA-AU 6 34458359 34458359 single base substitution C T intron_variant MELA-AU 6 34458712 34458712 single base substitution C T intron_variant MELA-AU 6 34458731 34458731 single base substitution C T intron_variant MELA-AU 6 34459102 34459102 single base substitution C T intron_variant MELA-AU 6 34459216 34459216 single base substitution C T intron_variant MELA-AU 6 34459333 34459333 single base substitution C T intron_variant MELA-AU 6 34459482 34459482 single base substitution G A intron_variant MELA-AU 6 34459511 34459511 single base substitution C T intron_variant MELA-AU 6 34459585 34459585 single base substitution C T intron_variant MELA-AU 6 34459720 34459720 single base substitution C T intron_variant MELA-AU 6 34459721 34459721 single base substitution C T intron_variant MELA-AU 6 34459772 34459772 single base substitution C T intron_variant MELA-AU 6 34460013 34460013 single base substitution C T intron_variant MELA-AU 6 34460108 34460108 single base substitution C T intron_variant MELA-AU 6 34460192 34460192 single base substitution C T intron_variant MELA-AU 6 34460379 34460379 single base substitution G A intron_variant MELA-AU 6 34460425 34460425 single base substitution C T intron_variant MELA-AU 6 34460473 34460473 single base substitution C T intron_variant MELA-AU 6 34460825 34460825 single base substitution C T intron_variant MELA-AU 6 34460997 34460997 single base substitution C T intron_variant MELA-AU 6 34461204 34461204 single base substitution C T intron_variant MELA-AU 6 34461227 34461228 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34461366 34461366 single base substitution C T intron_variant MELA-AU 6 34461512 34461512 single base substitution G A intron_variant MELA-AU 6 34461749 34461749 single base substitution C T intron_variant MELA-AU 6 34462479 34462479 single base substitution C T intron_variant MELA-AU 6 34462605 34462605 single base substitution C T intron_variant MELA-AU 6 34462612 34462612 single base substitution C T intron_variant MELA-AU 6 34463138 34463138 single base substitution G A intron_variant MELA-AU 6 34463214 34463214 single base substitution G A intron_variant MELA-AU 6 34463264 34463264 single base substitution C T intron_variant MELA-AU 6 34463482 34463482 single base substitution G A intron_variant MELA-AU 6 34463531 34463531 single base substitution G A intron_variant MELA-AU 6 34463618 34463619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34464093 34464093 single base substitution C T intron_variant MELA-AU 6 34464186 34464186 single base substitution C T intron_variant MELA-AU 6 34464251 34464251 single base substitution C T intron_variant MELA-AU 6 34464379 34464379 single base substitution C T intron_variant MELA-AU 6 34464564 34464564 single base substitution G A intron_variant MELA-AU 6 34464796 34464796 single base substitution G A intron_variant MELA-AU 6 34464838 34464838 single base substitution G A intron_variant MELA-AU 6 34464925 34464925 single base substitution C T intron_variant MELA-AU 6 34464937 34464937 single base substitution G A intron_variant MELA-AU 6 34465061 34465061 single base substitution G A intron_variant MELA-AU 6 34465332 34465332 single base substitution C T intron_variant MELA-AU 6 34465687 34465687 single base substitution G A intron_variant MELA-AU 6 34465868 34465868 single base substitution C T intron_variant MELA-AU 6 34466367 34466367 single base substitution G A intron_variant MELA-AU 6 34466700 34466700 single base substitution C T intron_variant MELA-AU 6 34466815 34466815 single base substitution C T intron_variant MELA-AU 6 34466834 34466834 single base substitution T C intron_variant MELA-AU 6 34466842 34466842 single base substitution G A intron_variant MELA-AU 6 34467298 34467298 single base substitution C T intron_variant MELA-AU 6 34467496 34467496 single base substitution C T intron_variant MELA-AU 6 34467567 34467567 single base substitution C T intron_variant MELA-AU 6 34467695 34467695 single base substitution C T intron_variant MELA-AU 6 34468038 34468038 single base substitution C T intron_variant MELA-AU 6 34468158 34468158 single base substitution G A intron_variant MELA-AU 6 34468183 34468183 single base substitution G A intron_variant MELA-AU 6 34468322 34468322 single base substitution C T intron_variant MELA-AU 6 34468549 34468549 single base substitution G A intron_variant MELA-AU 6 34468678 34468678 single base substitution C T intron_variant MELA-AU 6 34468713 34468713 single base substitution A G intron_variant MELA-AU 6 34468735 34468735 single base substitution C T intron_variant MELA-AU 6 34468751 34468751 single base substitution C T intron_variant MELA-AU 6 34468752 34468752 single base substitution A T intron_variant MELA-AU 6 34469074 34469074 single base substitution T C intron_variant MELA-AU 6 34469085 34469085 single base substitution G A intron_variant MELA-AU 6 34469325 34469325 single base substitution C T intron_variant MELA-AU 6 34469399 34469399 single base substitution G A intron_variant MELA-AU 6 34469431 34469431 single base substitution G A intron_variant MELA-AU 6 34469556 34469556 single base substitution C T intron_variant MELA-AU 6 34469603 34469603 single base substitution C T intron_variant MELA-AU 6 34469753 34469753 single base substitution G A intron_variant MELA-AU 6 34470266 34470266 single base substitution G A intron_variant MELA-AU 6 34470435 34470435 single base substitution G A intron_variant MELA-AU 6 34470465 34470465 single base substitution G A intron_variant MELA-AU 6 34470470 34470470 single base substitution C T intron_variant MELA-AU 6 34470488 34470488 single base substitution C T intron_variant MELA-AU 6 34470571 34470571 single base substitution C T intron_variant MELA-AU 6 34470642 34470642 single base substitution T G intron_variant MELA-AU 6 34470822 34470822 single base substitution C T intron_variant MELA-AU 6 34471122 34471122 single base substitution C T intron_variant MELA-AU 6 34471438 34471438 single base substitution C T intron_variant MELA-AU 6 34471491 34471491 single base substitution G A intron_variant MELA-AU 6 34471618 34471618 single base substitution C T intron_variant MELA-AU 6 34472159 34472159 single base substitution C T intron_variant MELA-AU 6 34472492 34472492 single base substitution G A intron_variant MELA-AU 6 34472514 34472515 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34472560 34472560 single base substitution C T intron_variant MELA-AU 6 34472584 34472584 single base substitution C T intron_variant MELA-AU 6 34472604 34472604 single base substitution G A intron_variant MELA-AU 6 34472753 34472753 single base substitution C T intron_variant MELA-AU 6 34472836 34472836 single base substitution C T intron_variant MELA-AU 6 34472845 34472845 single base substitution C T intron_variant MELA-AU 6 34473028 34473028 single base substitution C T intron_variant MELA-AU 6 34473103 34473103 single base substitution G A intron_variant MELA-AU 6 34473140 34473140 single base substitution C T intron_variant MELA-AU 6 34473514 34473514 single base substitution G A intron_variant MELA-AU 6 34473871 34473871 single base substitution G A intron_variant MELA-AU 6 34474105 34474105 single base substitution C T intron_variant MELA-AU 6 34474401 34474401 single base substitution A T intron_variant MELA-AU 6 34474670 34474670 single base substitution C T intron_variant MELA-AU 6 34474941 34474941 single base substitution G T intron_variant MELA-AU 6 34475733 34475733 single base substitution G A intron_variant MELA-AU 6 34475808 34475808 single base substitution G A intron_variant MELA-AU 6 34475826 34475826 single base substitution C T intron_variant MELA-AU 6 34475904 34475904 single base substitution G A intron_variant MELA-AU 6 34475923 34475924 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34476071 34476071 single base substitution G A intron_variant MELA-AU 6 34476314 34476314 single base substitution G A intron_variant MELA-AU 6 34476514 34476514 single base substitution C A intron_variant MELA-AU 6 34476649 34476649 single base substitution A G intron_variant MELA-AU 6 34476659 34476659 single base substitution G C intron_variant MELA-AU 6 34476666 34476666 single base substitution G A intron_variant MELA-AU 6 34476688 34476688 single base substitution C T intron_variant MELA-AU 6 34477043 34477043 single base substitution G A intron_variant MELA-AU 6 34477145 34477145 single base substitution T C intron_variant MELA-AU 6 34477253 34477253 single base substitution G C intron_variant MELA-AU 6 34477979 34477979 single base substitution C T intron_variant MELA-AU 6 34477979 34477979 single base substitution C T upstream_gene_variant MELA-AU 6 34478002 34478002 single base substitution C T intron_variant MELA-AU 6 34478002 34478002 single base substitution C T upstream_gene_variant MELA-AU 6 34478114 34478114 single base substitution C T intron_variant MELA-AU 6 34478114 34478114 single base substitution C T upstream_gene_variant MELA-AU 6 34478281 34478281 single base substitution C T intron_variant MELA-AU 6 34478281 34478281 single base substitution C T upstream_gene_variant MELA-AU 6 34478350 34478350 single base substitution C T intron_variant MELA-AU 6 34478350 34478350 single base substitution C T upstream_gene_variant MELA-AU 6 34478906 34478906 single base substitution C T intron_variant MELA-AU 6 34478906 34478906 single base substitution C T upstream_gene_variant MELA-AU 6 34478975 34478975 single base substitution G A intron_variant MELA-AU 6 34478975 34478975 single base substitution G A upstream_gene_variant MELA-AU 6 34479045 34479045 single base substitution C T intron_variant MELA-AU 6 34479045 34479045 single base substitution C T upstream_gene_variant MELA-AU 6 34479111 34479111 single base substitution G A intron_variant MELA-AU 6 34479111 34479111 single base substitution G A upstream_gene_variant MELA-AU 6 34479377 34479377 single base substitution C T intron_variant MELA-AU 6 34479377 34479377 single base substitution C T upstream_gene_variant MELA-AU 6 34479379 34479379 single base substitution C T intron_variant MELA-AU 6 34479379 34479379 single base substitution C T upstream_gene_variant MELA-AU 6 34479533 34479533 single base substitution G A intron_variant MELA-AU 6 34479533 34479533 single base substitution G A upstream_gene_variant MELA-AU 6 34479565 34479565 single base substitution G A intron_variant MELA-AU 6 34479565 34479565 single base substitution G A upstream_gene_variant MELA-AU 6 34479701 34479701 single base substitution G A intron_variant MELA-AU 6 34479701 34479701 single base substitution G A upstream_gene_variant MELA-AU 6 34479940 34479940 single base substitution C T intron_variant MELA-AU 6 34479940 34479940 single base substitution C T upstream_gene_variant MELA-AU 6 34480230 34480230 single base substitution G A intron_variant MELA-AU 6 34480230 34480230 single base substitution G A upstream_gene_variant MELA-AU 6 34480262 34480262 single base substitution C T intron_variant MELA-AU 6 34480262 34480262 single base substitution C T upstream_gene_variant MELA-AU 6 34480324 34480324 single base substitution G A intron_variant MELA-AU 6 34480324 34480324 single base substitution G A upstream_gene_variant MELA-AU 6 34480356 34480356 single base substitution T G intron_variant MELA-AU 6 34480356 34480356 single base substitution T G upstream_gene_variant MELA-AU 6 34480726 34480726 single base substitution C T intron_variant MELA-AU 6 34480726 34480726 single base substitution C T upstream_gene_variant MELA-AU 6 34480962 34480962 single base substitution C T intron_variant MELA-AU 6 34480962 34480962 single base substitution C T upstream_gene_variant MELA-AU 6 34481281 34481281 single base substitution C T intron_variant MELA-AU 6 34481281 34481281 single base substitution C T upstream_gene_variant MELA-AU 6 34481418 34481418 single base substitution G A intron_variant MELA-AU 6 34481418 34481418 single base substitution G A upstream_gene_variant MELA-AU 6 34481438 34481438 single base substitution G A intron_variant MELA-AU 6 34481438 34481438 single base substitution G A upstream_gene_variant MELA-AU 6 34481545 34481545 single base substitution C T intron_variant MELA-AU 6 34481545 34481545 single base substitution C T upstream_gene_variant MELA-AU 6 34481698 34481698 single base substitution C T intron_variant MELA-AU 6 34481698 34481698 single base substitution C T upstream_gene_variant MELA-AU 6 34481867 34481867 single base substitution G A intron_variant MELA-AU 6 34481867 34481867 single base substitution G A upstream_gene_variant MELA-AU 6 34481991 34481991 single base substitution C T intron_variant MELA-AU 6 34481991 34481991 single base substitution C T upstream_gene_variant MELA-AU 6 34482097 34482097 single base substitution C T intron_variant MELA-AU 6 34482097 34482097 single base substitution C T upstream_gene_variant MELA-AU 6 34482173 34482173 single base substitution A C intron_variant MELA-AU 6 34482173 34482173 single base substitution A C upstream_gene_variant MELA-AU 6 34482393 34482393 single base substitution C T intron_variant MELA-AU 6 34482393 34482393 single base substitution C T upstream_gene_variant MELA-AU 6 34482398 34482398 single base substitution C T intron_variant MELA-AU 6 34482398 34482398 single base substitution C T upstream_gene_variant MELA-AU 6 34482481 34482481 single base substitution C T intron_variant MELA-AU 6 34482481 34482481 single base substitution C T upstream_gene_variant MELA-AU 6 34482561 34482561 single base substitution G A intron_variant MELA-AU 6 34482561 34482561 single base substitution G A upstream_gene_variant MELA-AU 6 34482748 34482748 single base substitution G A 5_prime_UTR_variant MELA-AU 6 34482748 34482748 single base substitution G A exon_variant MELA-AU 6 34482748 34482748 single base substitution G A intron_variant MELA-AU 6 34482789 34482789 single base substitution C T 5_prime_UTR_variant MELA-AU 6 34482789 34482789 single base substitution C T exon_variant MELA-AU 6 34482789 34482789 single base substitution C T intron_variant MELA-AU 6 34482893 34482893 single base substitution G A intron_variant MELA-AU 6 34482929 34482929 single base substitution G A intron_variant MELA-AU 6 34483016 34483016 single base substitution G A intron_variant MELA-AU 6 34483036 34483036 single base substitution G A intron_variant MELA-AU 6 34483052 34483052 single base substitution G A intron_variant MELA-AU 6 34483077 34483077 single base substitution C T intron_variant MELA-AU 6 34483173 34483173 single base substitution G A intron_variant MELA-AU 6 34483444 34483444 single base substitution C T intron_variant MELA-AU 6 34483460 34483460 single base substitution C T intron_variant MELA-AU 6 34483520 34483520 single base substitution G A intron_variant MELA-AU 6 34483558 34483558 single base substitution C T intron_variant MELA-AU 6 34483738 34483738 single base substitution G A intron_variant MELA-AU 6 34483741 34483741 single base substitution G A intron_variant MELA-AU 6 34484251 34484251 single base substitution C T intron_variant MELA-AU 6 34484548 34484548 single base substitution C T intron_variant MELA-AU 6 34484561 34484561 single base substitution C T intron_variant MELA-AU 6 34484774 34484774 single base substitution G A intron_variant MELA-AU 6 34484824 34484824 single base substitution C T intron_variant MELA-AU 6 34484860 34484860 single base substitution C T intron_variant MELA-AU 6 34484867 34484867 single base substitution C T intron_variant MELA-AU 6 34485116 34485116 single base substitution C T intron_variant MELA-AU 6 34485133 34485133 single base substitution C T intron_variant MELA-AU 6 34485172 34485172 single base substitution C T intron_variant MELA-AU 6 34485258 34485258 single base substitution C T intron_variant MELA-AU 6 34485260 34485260 single base substitution C T intron_variant MELA-AU 6 34485296 34485296 single base substitution C T intron_variant MELA-AU 6 34485711 34485711 single base substitution G A intron_variant MELA-AU 6 34485878 34485878 single base substitution C T intron_variant MELA-AU 6 34486005 34486005 single base substitution C T intron_variant MELA-AU 6 34486494 34486494 single base substitution C T intron_variant MELA-AU 6 34486504 34486504 single base substitution C T intron_variant MELA-AU 6 34486521 34486521 single base substitution C T intron_variant MELA-AU 6 34486791 34486791 single base substitution G A intron_variant MELA-AU 6 34486864 34486864 single base substitution G A intron_variant MELA-AU 6 34487020 34487020 single base substitution C T intron_variant MELA-AU 6 34487112 34487112 single base substitution C T intron_variant MELA-AU 6 34487145 34487145 single base substitution G A intron_variant MELA-AU 6 34487183 34487183 single base substitution G A intron_variant MELA-AU 6 34487214 34487214 single base substitution C T intron_variant MELA-AU 6 34487275 34487275 single base substitution C T intron_variant MELA-AU 6 34487531 34487532 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34487716 34487716 single base substitution G A intron_variant MELA-AU 6 34487766 34487766 single base substitution G A intron_variant MELA-AU 6 34487809 34487809 single base substitution G A intron_variant MELA-AU 6 34487874 34487874 single base substitution G A intron_variant MELA-AU 6 34488105 34488105 single base substitution G A intron_variant MELA-AU 6 34488145 34488145 single base substitution C T intron_variant MELA-AU 6 34488146 34488146 single base substitution C T intron_variant MELA-AU 6 34488176 34488176 single base substitution C T intron_variant MELA-AU 6 34488446 34488446 single base substitution G A intron_variant MELA-AU 6 34488487 34488488 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34488603 34488603 single base substitution C T intron_variant MELA-AU 6 34488677 34488677 single base substitution C T intron_variant MELA-AU 6 34488686 34488686 single base substitution C T intron_variant MELA-AU 6 34488802 34488802 single base substitution C T intron_variant MELA-AU 6 34488845 34488877 deletion of <=200bp GCCGGCACTGCACTGGATGCTGGAAATACGGCA - intron_variant MELA-AU 6 34489187 34489187 single base substitution G A intron_variant MELA-AU 6 34489386 34489386 single base substitution C A intron_variant MELA-AU 6 34489416 34489416 single base substitution G A intron_variant MELA-AU 6 34489503 34489503 single base substitution G A intron_variant MELA-AU 6 34489590 34489590 single base substitution C T intron_variant MELA-AU 6 34489640 34489640 single base substitution G A intron_variant MELA-AU 6 34489788 34489788 single base substitution G A intron_variant MELA-AU 6 34489843 34489843 single base substitution C T intron_variant MELA-AU 6 34489997 34489997 single base substitution G A intron_variant MELA-AU 6 34490090 34490090 single base substitution G A intron_variant MELA-AU 6 34490316 34490316 single base substitution G A intron_variant MELA-AU 6 34490337 34490337 single base substitution G A intron_variant MELA-AU 6 34490682 34490682 single base substitution C T intron_variant MELA-AU 6 34490700 34490700 single base substitution G A intron_variant MELA-AU 6 34491044 34491044 single base substitution C T intron_variant MELA-AU 6 34491162 34491162 single base substitution C T intron_variant MELA-AU 6 34491409 34491409 single base substitution G A intron_variant MELA-AU 6 34491545 34491545 single base substitution G A intron_variant MELA-AU 6 34491645 34491645 single base substitution G T intron_variant MELA-AU 6 34491692 34491692 single base substitution C T intron_variant MELA-AU 6 34492287 34492287 single base substitution C T intron_variant MELA-AU 6 34492288 34492288 single base substitution C T intron_variant MELA-AU 6 34492345 34492345 single base substitution G A intron_variant MELA-AU 6 34492391 34492391 single base substitution T C intron_variant MELA-AU 6 34492739 34492739 single base substitution G A intron_variant MELA-AU 6 34492753 34492753 single base substitution G A intron_variant MELA-AU 6 34493439 34493439 single base substitution G A intron_variant MELA-AU 6 34493676 34493676 single base substitution C T intron_variant MELA-AU 6 34493723 34493723 single base substitution C T intron_variant MELA-AU 6 34493832 34493832 single base substitution G A intron_variant MELA-AU 6 34494173 34494173 single base substitution G A intron_variant MELA-AU 6 34495052 34495052 single base substitution G A intron_variant MELA-AU 6 34496049 34496049 single base substitution G A downstream_gene_variant MELA-AU 6 34496049 34496049 single base substitution G A intron_variant MELA-AU 6 34496160 34496161 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 34496160 34496161 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34496681 34496681 single base substitution G A downstream_gene_variant MELA-AU 6 34496681 34496681 single base substitution G A intron_variant MELA-AU 6 34496696 34496696 single base substitution G C downstream_gene_variant MELA-AU 6 34496696 34496696 single base substitution G C intron_variant MELA-AU 6 34496778 34496778 single base substitution G A downstream_gene_variant MELA-AU 6 34496778 34496778 single base substitution G A intron_variant MELA-AU 6 34496876 34496876 single base substitution G A downstream_gene_variant MELA-AU 6 34496876 34496876 single base substitution G A intron_variant MELA-AU 6 34497153 34497153 single base substitution C T downstream_gene_variant MELA-AU 6 34497153 34497153 single base substitution C T intron_variant MELA-AU 6 34497391 34497391 single base substitution G A downstream_gene_variant MELA-AU 6 34497391 34497391 single base substitution G A intron_variant MELA-AU 6 34498229 34498229 single base substitution C T downstream_gene_variant MELA-AU 6 34498229 34498229 single base substitution C T splice_region_variant MELA-AU 6 34498388 34498388 single base substitution C T downstream_gene_variant MELA-AU 6 34498388 34498388 single base substitution C T intron_variant MELA-AU 6 34498890 34498890 single base substitution C T downstream_gene_variant MELA-AU 6 34498890 34498890 single base substitution C T intron_variant MELA-AU 6 34499016 34499016 single base substitution G A downstream_gene_variant MELA-AU 6 34499016 34499016 single base substitution G A intron_variant MELA-AU 6 34499122 34499122 single base substitution C T downstream_gene_variant MELA-AU 6 34499122 34499122 single base substitution C T intron_variant MELA-AU 6 34499246 34499247 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 34499246 34499247 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34499442 34499442 single base substitution C T downstream_gene_variant MELA-AU 6 34499442 34499442 single base substitution C T missense_variant P326L 977C>T MELA-AU 6 34499442 34499442 single base substitution C T missense_variant P368L 1103C>T MELA-AU 6 34499479 34499479 single base substitution C A downstream_gene_variant MELA-AU 6 34499479 34499479 single base substitution C A synonymous_variant P338P 1014C>A MELA-AU 6 34499479 34499479 single base substitution C A synonymous_variant P380P 1140C>A MELA-AU 6 34499498 34499498 single base substitution G A downstream_gene_variant MELA-AU 6 34499498 34499498 single base substitution G A missense_variant G345R 1033G>A MELA-AU 6 34499498 34499498 single base substitution G A missense_variant G387R 1159G>A MELA-AU 6 34499499 34499499 single base substitution G A downstream_gene_variant MELA-AU 6 34499499 34499499 single base substitution G A missense_variant G345E 1034G>A MELA-AU 6 34499499 34499499 single base substitution G A missense_variant G387E 1160G>A MELA-AU 6 34499694 34499694 single base substitution C T downstream_gene_variant MELA-AU 6 34499694 34499694 single base substitution C T intron_variant MELA-AU 6 34499878 34499878 single base substitution G A downstream_gene_variant MELA-AU 6 34499878 34499878 single base substitution G A intron_variant MELA-AU 6 34499929 34499929 single base substitution C T downstream_gene_variant MELA-AU 6 34499929 34499929 single base substitution C T intron_variant MELA-AU 6 34499948 34499948 single base substitution G A downstream_gene_variant MELA-AU 6 34499948 34499948 single base substitution G A intron_variant MELA-AU 6 34500221 34500221 single base substitution G A downstream_gene_variant MELA-AU 6 34500221 34500221 single base substitution G A missense_variant E375K 1123G>A MELA-AU 6 34500221 34500221 single base substitution G A missense_variant E417K 1249G>A MELA-AU 6 34500763 34500764 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 6 34500763 34500764 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 34500783 34500784 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 34500783 34500784 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 34500925 34500925 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34500925 34500925 single base substitution G A downstream_gene_variant MELA-AU 6 34501111 34501111 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34501111 34501111 single base substitution G A downstream_gene_variant MELA-AU 6 34501323 34501323 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34501323 34501323 single base substitution C T downstream_gene_variant MELA-AU 6 34501566 34501566 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34501566 34501566 single base substitution C T downstream_gene_variant MELA-AU 6 34501722 34501722 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34501722 34501722 single base substitution C T downstream_gene_variant MELA-AU 6 34502094 34502095 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 34502094 34502095 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 34502097 34502097 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34502097 34502097 single base substitution G A downstream_gene_variant MELA-AU 6 34502327 34502327 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34502327 34502327 single base substitution G A downstream_gene_variant MELA-AU 6 34502446 34502446 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34502500 34502500 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34502565 34502565 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34502567 34502567 single base substitution T C 3_prime_UTR_variant MELA-AU 6 34502986 34502986 single base substitution C T 3_prime_UTR_variant MELA-AU 6 34503042 34503043 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 34503093 34503093 single base substitution G A downstream_gene_variant MELA-AU 6 34503177 34503177 single base substitution C T downstream_gene_variant MELA-AU 6 34503230 34503230 single base substitution G A downstream_gene_variant MELA-AU 6 34503303 34503303 single base substitution C T downstream_gene_variant MELA-AU 6 34503673 34503673 single base substitution C T downstream_gene_variant MELA-AU 6 34504226 34504226 single base substitution G A downstream_gene_variant MELA-AU 6 34504320 34504320 single base substitution C T downstream_gene_variant MELA-AU 6 34504769 34504769 single base substitution G A downstream_gene_variant MELA-AU 6 34504812 34504812 single base substitution C T downstream_gene_variant MELA-AU 6 34504986 34504986 single base substitution G A downstream_gene_variant MELA-AU 6 34505001 34505001 single base substitution G A downstream_gene_variant MELA-AU 6 34505691 34505691 single base substitution G A downstream_gene_variant MELA-AU 6 34505883 34505883 single base substitution G A downstream_gene_variant MELA-AU 6 34505893 34505893 single base substitution C T downstream_gene_variant MELA-AU 6 34505925 34505925 single base substitution C T downstream_gene_variant MELA-AU 6 34506194 34506194 single base substitution G A downstream_gene_variant MELA-AU 6 34506290 34506290 single base substitution A C downstream_gene_variant MELA-AU 6 34506345 34506345 single base substitution C T downstream_gene_variant MELA-AU 6 34506521 34506521 single base substitution C T downstream_gene_variant MELA-AU 6 34507620 34507620 single base substitution G A downstream_gene_variant ORCA-IN 6 34441812 34441812 single base substitution G A intron_variant ORCA-IN 6 34445348 34445348 single base substitution C T intron_variant ORCA-IN 6 34454838 34454838 single base substitution T G intron_variant ORCA-IN 6 34461176 34461176 single base substitution G C intron_variant ORCA-IN 6 34464073 34464073 single base substitution C A intron_variant ORCA-IN 6 34496472 34496472 single base substitution G C downstream_gene_variant ORCA-IN 6 34496472 34496472 single base substitution G C exon_variant ORCA-IN 6 34496472 34496472 single base substitution G C missense_variant D50H 148G>C ORCA-IN 6 34496472 34496472 single base substitution G C missense_variant D92H 274G>C ORCA-IN 6 34498122 34498122 single base substitution G A downstream_gene_variant ORCA-IN 6 34498122 34498122 single base substitution G A missense_variant M255I 765G>A ORCA-IN 6 34498122 34498122 single base substitution G A missense_variant M297I 891G>A OV-AU 6 34432834 34432834 single base substitution C G upstream_gene_variant OV-AU 6 34436740 34436740 single base substitution G A intron_variant OV-AU 6 34438740 34438740 single base substitution G T intron_variant OV-AU 6 34439661 34439661 single base substitution G A intron_variant OV-AU 6 34441843 34441843 single base substitution C G intron_variant OV-AU 6 34446240 34446240 single base substitution C T intron_variant OV-AU 6 34447492 34447492 single base substitution C G intron_variant OV-AU 6 34448767 34448767 single base substitution C T intron_variant OV-AU 6 34448767 34448767 single base substitution C T upstream_gene_variant OV-AU 6 34450815 34450815 single base substitution C A intron_variant OV-AU 6 34450815 34450815 single base substitution C A upstream_gene_variant OV-AU 6 34456724 34456724 single base substitution G A intron_variant OV-AU 6 34457720 34457720 single base substitution G T intron_variant OV-AU 6 34462259 34462259 single base substitution G T intron_variant OV-AU 6 34475420 34475420 single base substitution A G intron_variant OV-AU 6 34492616 34492616 single base substitution C A intron_variant OV-AU 6 34493603 34493603 single base substitution G A intron_variant OV-AU 6 34496537 34496537 single base substitution G T downstream_gene_variant OV-AU 6 34496537 34496537 single base substitution G T exon_variant OV-AU 6 34496537 34496537 single base substitution G T synonymous_variant V113V 339G>T OV-AU 6 34496537 34496537 single base substitution G T synonymous_variant V71V 213G>T OV-AU 6 34497441 34497441 single base substitution A T downstream_gene_variant OV-AU 6 34497441 34497441 single base substitution A T splice_acceptor_variant OV-AU 6 34500073 34500073 single base substitution G T downstream_gene_variant OV-AU 6 34500073 34500073 single base substitution G T intron_variant OV-AU 6 34503846 34503846 single base substitution T A downstream_gene_variant PACA-AU 6 34429041 34429041 single base substitution A G upstream_gene_variant PACA-AU 6 34432625 34432625 single base substitution C T upstream_gene_variant PACA-AU 6 34436887 34436887 single base substitution T G intron_variant PACA-AU 6 34437478 34437478 single base substitution G A intron_variant PACA-AU 6 34437920 34437920 single base substitution C A intron_variant PACA-AU 6 34441366 34441366 single base substitution G A intron_variant PACA-AU 6 34442378 34442378 single base substitution C A intron_variant PACA-AU 6 34449840 34449840 deletion of <=200bp T - intron_variant PACA-AU 6 34449840 34449840 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 34450456 34450456 single base substitution T C intron_variant PACA-AU 6 34450456 34450456 single base substitution T C upstream_gene_variant PACA-AU 6 34467254 34467254 single base substitution A C intron_variant PACA-AU 6 34467417 34467417 deletion of <=200bp A - intron_variant PACA-AU 6 34469238 34469238 single base substitution C T intron_variant PACA-AU 6 34475562 34475562 single base substitution T G intron_variant PACA-AU 6 34476629 34476629 single base substitution C A intron_variant PACA-AU 6 34478635 34478635 single base substitution A G intron_variant PACA-AU 6 34478635 34478635 single base substitution A G upstream_gene_variant PACA-AU 6 34479365 34479365 deletion of <=200bp A - intron_variant PACA-AU 6 34479365 34479365 deletion of <=200bp A - upstream_gene_variant PACA-AU 6 34482461 34482461 single base substitution G A intron_variant PACA-AU 6 34482461 34482461 single base substitution G A upstream_gene_variant PACA-AU 6 34482734 34482734 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 34482734 34482734 single base substitution C T exon_variant PACA-AU 6 34482734 34482734 single base substitution C T intron_variant PACA-AU 6 34482796 34482796 single base substitution G A 5_prime_UTR_variant PACA-AU 6 34482796 34482796 single base substitution G A exon_variant PACA-AU 6 34482796 34482796 single base substitution G A intron_variant PACA-AU 6 34483643 34483643 single base substitution C T intron_variant PACA-AU 6 34484857 34484857 single base substitution C T intron_variant PACA-AU 6 34493129 34493129 single base substitution C T intron_variant PACA-AU 6 34500071 34500071 single base substitution G A downstream_gene_variant PACA-AU 6 34500071 34500071 single base substitution G A intron_variant PACA-AU 6 34502719 34502719 single base substitution G A 3_prime_UTR_variant PACA-AU 6 34503610 34503610 single base substitution C T downstream_gene_variant PACA-CA 6 34438102 34438102 single base substitution C T intron_variant PACA-CA 6 34438711 34438711 single base substitution T A intron_variant PACA-CA 6 34441368 34441368 single base substitution G T intron_variant PACA-CA 6 34441996 34441996 single base substitution G A intron_variant PACA-CA 6 34442351 34442351 single base substitution G C intron_variant PACA-CA 6 34442747 34442747 single base substitution C A intron_variant PACA-CA 6 34442842 34442842 single base substitution C T intron_variant PACA-CA 6 34449332 34449332 single base substitution A C intron_variant PACA-CA 6 34449332 34449332 single base substitution A C upstream_gene_variant PACA-CA 6 34451584 34451584 single base substitution G T intron_variant PACA-CA 6 34451584 34451584 single base substitution G T upstream_gene_variant PACA-CA 6 34451694 34451694 single base substitution G T intron_variant PACA-CA 6 34451694 34451694 single base substitution G T upstream_gene_variant PACA-CA 6 34453987 34453987 single base substitution G T intron_variant PACA-CA 6 34454597 34454597 single base substitution G A intron_variant PACA-CA 6 34457031 34457031 single base substitution A G intron_variant PACA-CA 6 34460340 34460340 single base substitution G T intron_variant PACA-CA 6 34460932 34460932 single base substitution G T intron_variant PACA-CA 6 34461019 34461019 single base substitution C G intron_variant PACA-CA 6 34461107 34461107 single base substitution G A intron_variant PACA-CA 6 34463212 34463212 single base substitution G A intron_variant PACA-CA 6 34463762 34463762 single base substitution C T intron_variant PACA-CA 6 34466341 34466341 single base substitution G A intron_variant PACA-CA 6 34468549 34468549 single base substitution G A intron_variant PACA-CA 6 34469672 34469672 single base substitution G T intron_variant PACA-CA 6 34470109 34470109 single base substitution T C intron_variant PACA-CA 6 34477055 34477055 single base substitution G A intron_variant PACA-CA 6 34477253 34477253 single base substitution G T intron_variant PACA-CA 6 34479061 34479061 single base substitution C G intron_variant PACA-CA 6 34479061 34479061 single base substitution C G upstream_gene_variant PACA-CA 6 34479809 34479809 insertion of <=200bp - GT intron_variant PACA-CA 6 34479809 34479809 insertion of <=200bp - GT upstream_gene_variant PACA-CA 6 34480215 34480215 single base substitution C T intron_variant PACA-CA 6 34480215 34480215 single base substitution C T upstream_gene_variant PACA-CA 6 34483877 34483877 single base substitution C A intron_variant PACA-CA 6 34483885 34483885 single base substitution C A intron_variant PACA-CA 6 34484508 34484508 single base substitution T A intron_variant PACA-CA 6 34484790 34484790 single base substitution G T intron_variant PACA-CA 6 34487190 34487190 single base substitution G T intron_variant PACA-CA 6 34489983 34489983 single base substitution G T intron_variant PACA-CA 6 34490291 34490291 single base substitution C A intron_variant PACA-CA 6 34491505 34491505 single base substitution C T intron_variant PACA-CA 6 34493076 34493076 single base substitution C G intron_variant PACA-CA 6 34496448 34496448 single base substitution T C downstream_gene_variant PACA-CA 6 34496448 34496448 single base substitution T C exon_variant PACA-CA 6 34496448 34496448 single base substitution T C missense_variant W42R 124T>C PACA-CA 6 34496448 34496448 single base substitution T C missense_variant W84R 250T>C PACA-CA 6 34497512 34497512 single base substitution G C downstream_gene_variant PACA-CA 6 34497512 34497512 single base substitution G C missense_variant E186Q 556G>C PACA-CA 6 34497512 34497512 single base substitution G C missense_variant E228Q 682G>C PACA-CA 6 34499913 34499913 single base substitution G C downstream_gene_variant PACA-CA 6 34499913 34499913 single base substitution G C intron_variant PACA-CA 6 34504994 34504994 single base substitution G A downstream_gene_variant PACA-CA 6 34504995 34504995 single base substitution C A downstream_gene_variant PAEN-AU 6 34465830 34465830 insertion of <=200bp - TTTG intron_variant PAEN-AU 6 34475048 34475048 single base substitution G T intron_variant PAEN-AU 6 34502035 34502035 single base substitution A C 3_prime_UTR_variant PAEN-AU 6 34502035 34502035 single base substitution A C downstream_gene_variant PAEN-IT 6 34479238 34479238 single base substitution C A intron_variant PAEN-IT 6 34479238 34479238 single base substitution C A upstream_gene_variant PBCA-DE 6 34439319 34439319 single base substitution C T intron_variant PBCA-DE 6 34442482 34442482 insertion of <=200bp - ATGTGAG intron_variant PBCA-DE 6 34442485 34442490 deletion of <=200bp CAAACC - intron_variant PBCA-DE 6 34445107 34445107 insertion of <=200bp - A intron_variant PBCA-DE 6 34450772 34450772 single base substitution G T intron_variant PBCA-DE 6 34450772 34450772 single base substitution G T upstream_gene_variant PBCA-DE 6 34453600 34453600 deletion of <=200bp C - intron_variant PBCA-DE 6 34459299 34459299 single base substitution G T intron_variant PBCA-DE 6 34470728 34470728 single base substitution C T intron_variant PBCA-DE 6 34472663 34472663 single base substitution C A intron_variant PBCA-DE 6 34501550 34501550 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 34501550 34501550 single base substitution C T downstream_gene_variant PBCA-DE 6 34507252 34507252 single base substitution A C downstream_gene_variant PRAD-CA 6 34438318 34438318 single base substitution G A intron_variant PRAD-CA 6 34449340 34449340 single base substitution G A intron_variant PRAD-CA 6 34449340 34449340 single base substitution G A upstream_gene_variant PRAD-CA 6 34467441 34467441 single base substitution C T intron_variant PRAD-CA 6 34472047 34472047 single base substitution G A intron_variant PRAD-CA 6 34482739 34482739 single base substitution G A 5_prime_UTR_variant PRAD-CA 6 34482739 34482739 single base substitution G A exon_variant PRAD-CA 6 34482739 34482739 single base substitution G A intron_variant PRAD-CA 6 34501119 34501119 single base substitution C T 3_prime_UTR_variant PRAD-CA 6 34501119 34501119 single base substitution C T downstream_gene_variant PRAD-UK 6 34434291 34434291 single base substitution C G intron_variant PRAD-UK 6 34441012 34441012 single base substitution G A intron_variant PRAD-UK 6 34442222 34442222 single base substitution C T intron_variant PRAD-UK 6 34447139 34447139 single base substitution C A intron_variant PRAD-UK 6 34453655 34453655 single base substitution A T intron_variant PRAD-UK 6 34454655 34454655 single base substitution G T intron_variant PRAD-UK 6 34467445 34467445 single base substitution C A intron_variant PRAD-UK 6 34470532 34470532 single base substitution C T intron_variant PRAD-UK 6 34477519 34477519 single base substitution A T intron_variant PRAD-UK 6 34480323 34480323 single base substitution G A intron_variant PRAD-UK 6 34480323 34480323 single base substitution G A upstream_gene_variant PRAD-UK 6 34484574 34484574 single base substitution G A intron_variant PRAD-UK 6 34501528 34501528 single base substitution C A 3_prime_UTR_variant PRAD-UK 6 34501528 34501528 single base substitution C A downstream_gene_variant PRAD-US 6 34498308 34498308 single base substitution G A downstream_gene_variant PRAD-US 6 34498308 34498308 single base substitution G A synonymous_variant A285A 855G>A PRAD-US 6 34498308 34498308 single base substitution G A synonymous_variant A327A 981G>A RECA-EU 6 34441105 34441105 single base substitution G A intron_variant RECA-EU 6 34451632 34451632 single base substitution G C intron_variant RECA-EU 6 34451632 34451632 single base substitution G C upstream_gene_variant RECA-EU 6 34453291 34453291 single base substitution G A intron_variant RECA-EU 6 34454880 34454880 single base substitution T A intron_variant RECA-EU 6 34474162 34474162 single base substitution T G intron_variant RECA-EU 6 34475583 34475583 single base substitution T A intron_variant RECA-EU 6 34487237 34487237 single base substitution C T intron_variant RECA-EU 6 34503359 34503359 single base substitution C T downstream_gene_variant RECA-EU 6 34506656 34506656 single base substitution G C downstream_gene_variant SKCA-BR 6 34433627 34433627 single base substitution G A upstream_gene_variant SKCA-BR 6 34434715 34434715 single base substitution A C intron_variant SKCA-BR 6 34435330 34435330 insertion of <=200bp - CTT intron_variant SKCA-BR 6 34437809 34437809 single base substitution T G intron_variant SKCA-BR 6 34440048 34440050 deletion of <=200bp CAA - intron_variant SKCA-BR 6 34441188 34441188 single base substitution C T intron_variant SKCA-BR 6 34442567 34442568 deletion of <=200bp GA - intron_variant SKCA-BR 6 34444138 34444138 single base substitution G A intron_variant SKCA-BR 6 34445900 34445900 single base substitution G A intron_variant SKCA-BR 6 34446865 34446865 single base substitution G A intron_variant SKCA-BR 6 34448043 34448043 single base substitution C T intron_variant SKCA-BR 6 34448043 34448043 single base substitution C T upstream_gene_variant SKCA-BR 6 34450461 34450462 deletion of <=200bp GT - intron_variant SKCA-BR 6 34450461 34450462 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 6 34450872 34450872 single base substitution C T intron_variant SKCA-BR 6 34450872 34450872 single base substitution C T upstream_gene_variant SKCA-BR 6 34451848 34451848 single base substitution G A intron_variant SKCA-BR 6 34451848 34451848 single base substitution G A upstream_gene_variant SKCA-BR 6 34455327 34455327 single base substitution C T intron_variant SKCA-BR 6 34457434 34457434 single base substitution T C intron_variant SKCA-BR 6 34457940 34457940 single base substitution A C intron_variant SKCA-BR 6 34457977 34457977 single base substitution A C intron_variant SKCA-BR 6 34459362 34459362 single base substitution C T intron_variant SKCA-BR 6 34459972 34459974 deletion of <=200bp CTT - intron_variant SKCA-BR 6 34461558 34461558 single base substitution C T intron_variant SKCA-BR 6 34462628 34462628 single base substitution T G intron_variant SKCA-BR 6 34463988 34463988 single base substitution G A intron_variant SKCA-BR 6 34464188 34464188 single base substitution G A intron_variant SKCA-BR 6 34464552 34464552 single base substitution A G intron_variant SKCA-BR 6 34464718 34464718 insertion of <=200bp - CT intron_variant SKCA-BR 6 34465190 34465190 single base substitution C T intron_variant SKCA-BR 6 34466733 34466733 single base substitution G A intron_variant SKCA-BR 6 34471052 34471052 insertion of <=200bp - AAAAAAG intron_variant SKCA-BR 6 34472047 34472047 single base substitution G A intron_variant SKCA-BR 6 34472057 34472068 deletion of <=200bp ATATATATATAT - intron_variant SKCA-BR 6 34472063 34472070 deletion of <=200bp ATATATTT - intron_variant SKCA-BR 6 34472065 34472068 deletion of <=200bp ATAT - intron_variant SKCA-BR 6 34472288 34472288 single base substitution G A intron_variant SKCA-BR 6 34473408 34473408 insertion of <=200bp - CT intron_variant SKCA-BR 6 34473431 34473431 single base substitution G C intron_variant SKCA-BR 6 34474023 34474023 single base substitution C T intron_variant SKCA-BR 6 34476313 34476313 single base substitution G A intron_variant SKCA-BR 6 34481056 34481056 single base substitution T G intron_variant SKCA-BR 6 34481056 34481056 single base substitution T G upstream_gene_variant SKCA-BR 6 34483396 34483396 single base substitution C T intron_variant SKCA-BR 6 34484567 34484567 single base substitution A C intron_variant SKCA-BR 6 34484876 34484876 single base substitution T C intron_variant SKCA-BR 6 34485631 34485631 single base substitution C T intron_variant SKCA-BR 6 34486655 34486655 single base substitution C T intron_variant SKCA-BR 6 34488536 34488536 single base substitution G A intron_variant SKCA-BR 6 34488537 34488537 single base substitution G A intron_variant SKCA-BR 6 34490121 34490121 single base substitution C T intron_variant SKCA-BR 6 34492012 34492012 single base substitution C T intron_variant SKCA-BR 6 34494970 34494970 single base substitution C G intron_variant SKCA-BR 6 34497360 34497360 single base substitution T G downstream_gene_variant SKCA-BR 6 34497360 34497360 single base substitution T G intron_variant SKCA-BR 6 34497395 34497395 single base substitution C T downstream_gene_variant SKCA-BR 6 34497395 34497395 single base substitution C T intron_variant SKCA-BR 6 34499258 34499258 single base substitution C T downstream_gene_variant SKCA-BR 6 34499258 34499258 single base substitution C T intron_variant SKCA-BR 6 34499341 34499341 single base substitution G T downstream_gene_variant SKCA-BR 6 34499341 34499341 single base substitution G T intron_variant SKCA-BR 6 34500996 34500996 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 34500996 34500996 single base substitution C T downstream_gene_variant SKCA-BR 6 34501686 34501686 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 34501686 34501686 single base substitution C T downstream_gene_variant SKCA-BR 6 34502301 34502301 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 34502301 34502301 single base substitution C T downstream_gene_variant SKCA-BR 6 34502333 34502333 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 34504986 34504986 single base substitution G A downstream_gene_variant SKCA-BR 6 34506662 34506662 single base substitution C T downstream_gene_variant SKCA-BR 6 34506916 34506916 single base substitution G A downstream_gene_variant SKCA-BR 6 34506926 34506926 single base substitution A C downstream_gene_variant SKCA-BR 6 34507239 34507239 single base substitution A C downstream_gene_variant SKCA-BR 6 34507450 34507450 single base substitution T G downstream_gene_variant SKCM-US 6 34496492 34496492 single base substitution C T downstream_gene_variant SKCM-US 6 34496492 34496492 single base substitution C T exon_variant SKCM-US 6 34496492 34496492 single base substitution C T synonymous_variant H56H 168C>T SKCM-US 6 34496492 34496492 single base substitution C T synonymous_variant H98H 294C>T SKCM-US 6 34496573 34496573 single base substitution C T downstream_gene_variant SKCM-US 6 34496573 34496573 single base substitution C T exon_variant SKCM-US 6 34496573 34496573 single base substitution C T synonymous_variant I125I 375C>T SKCM-US 6 34496573 34496573 single base substitution C T synonymous_variant I83I 249C>T SKCM-US 6 34496597 34496597 single base substitution G A downstream_gene_variant SKCM-US 6 34496597 34496597 single base substitution G A exon_variant SKCM-US 6 34496597 34496597 single base substitution G A synonymous_variant K133K 399G>A SKCM-US 6 34496597 34496597 single base substitution G A synonymous_variant K91K 273G>A SKCM-US 6 34497502 34497502 single base substitution G A downstream_gene_variant SKCM-US 6 34497502 34497502 single base substitution G A missense_variant M182I 546G>A SKCM-US 6 34497502 34497502 single base substitution G A missense_variant M224I 672G>A SKCM-US 6 34497569 34497569 single base substitution G A downstream_gene_variant SKCM-US 6 34497569 34497569 single base substitution G A missense_variant E205K 613G>A SKCM-US 6 34497569 34497569 single base substitution G A missense_variant E247K 739G>A SKCM-US 6 34497596 34497596 single base substitution C T downstream_gene_variant SKCM-US 6 34497596 34497596 single base substitution C T missense_variant L214F 640C>T SKCM-US 6 34497596 34497596 single base substitution C T missense_variant L256F 766C>T SKCM-US 6 34497610 34497610 single base substitution G A downstream_gene_variant SKCM-US 6 34497610 34497610 single base substitution G A synonymous_variant E218E 654G>A SKCM-US 6 34497610 34497610 single base substitution G A synonymous_variant E260E 780G>A SKCM-US 6 34498027 34498027 single base substitution C T downstream_gene_variant SKCM-US 6 34498027 34498027 single base substitution C T missense_variant H224Y 670C>T SKCM-US 6 34498027 34498027 single base substitution C T missense_variant H266Y 796C>T SKCM-US 6 34499429 34499429 single base substitution G A downstream_gene_variant SKCM-US 6 34499429 34499429 single base substitution G A missense_variant E322K 964G>A SKCM-US 6 34499429 34499429 single base substitution G A missense_variant E364K 1090G>A SKCM-US 6 34499489 34499489 single base substitution G A downstream_gene_variant SKCM-US 6 34499489 34499489 single base substitution G A missense_variant D342N 1024G>A SKCM-US 6 34499489 34499489 single base substitution G A missense_variant D384N 1150G>A SKCM-US 6 34499498 34499498 single base substitution G A downstream_gene_variant SKCM-US 6 34499498 34499498 single base substitution G A missense_variant G345R 1033G>A SKCM-US 6 34499498 34499498 single base substitution G A missense_variant G387R 1159G>A SKCM-US 6 34499504 34499504 single base substitution C T downstream_gene_variant SKCM-US 6 34499504 34499504 single base substitution C T missense_variant R347C 1039C>T SKCM-US 6 34499504 34499504 single base substitution C T missense_variant R389C 1165C>T SKCM-US 6 34499545 34499545 single base substitution C T downstream_gene_variant SKCM-US 6 34499545 34499545 single base substitution C T synonymous_variant D360D 1080C>T SKCM-US 6 34499545 34499545 single base substitution C T synonymous_variant D402D 1206C>T SKCM-US 6 34507087 34507087 single base substitution C T downstream_gene_variant STAD-US 6 34495114 34495114 single base substitution G A 5_prime_UTR_variant STAD-US 6 34495114 34495114 single base substitution G A exon_variant STAD-US 6 34495114 34495114 single base substitution G A synonymous_variant G23G 69G>A STAD-US 6 34497328 34497328 single base substitution A G downstream_gene_variant STAD-US 6 34497328 34497328 single base substitution A G exon_variant STAD-US 6 34497328 34497328 single base substitution A G missense_variant K162R 485A>G STAD-US 6 34497328 34497328 single base substitution A G missense_variant K204R 611A>G STAD-US 6 34498360 34498360 single base substitution G A downstream_gene_variant STAD-US 6 34498360 34498360 single base substitution G A missense_variant G303S 907G>A STAD-US 6 34498360 34498360 single base substitution G A missense_variant G345S 1033G>A STAD-US 6 34499470 34499470 single base substitution C T downstream_gene_variant STAD-US 6 34499470 34499470 single base substitution C T synonymous_variant G335G 1005C>T STAD-US 6 34499470 34499470 single base substitution C T synonymous_variant G377G 1131C>T STAD-US 6 34499507 34499507 single base substitution G A downstream_gene_variant STAD-US 6 34499507 34499507 single base substitution G A missense_variant V348M 1042G>A STAD-US 6 34499507 34499507 single base substitution G A missense_variant V390M 1168G>A UCEC-US 6 34497235 34497235 deletion of <=200bp G - downstream_gene_variant UCEC-US 6 34497235 34497235 deletion of <=200bp G - exon_variant UCEC-US 6 34497235 34497235 deletion of <=200bp G - frameshift_variant R131 UCEC-US 6 34497235 34497235 deletion of <=200bp G - frameshift_variant R173 UCEC-US 6 34499432 34499432 single base substitution A C downstream_gene_variant UCEC-US 6 34499432 34499432 single base substitution A C missense_variant S323R 967A>C UCEC-US 6 34499432 34499432 single base substitution A C missense_variant S365R 1093A>C UCEC-US 6 34499533 34499533 single base substitution C T downstream_gene_variant UCEC-US 6 34499533 34499533 single base substitution C T synonymous_variant G356G 1068C>T UCEC-US 6 34499533 34499533 single base substitution C T synonymous_variant G398G 1194C>T UCEC-US 6 34499563 34499563 single base substitution C T downstream_gene_variant UCEC-US 6 34499563 34499563 single base substitution C T splice_region_variant UCEC-US 6 34500203 34500203 single base substitution G A downstream_gene_variant UCEC-US 6 34500203 34500203 single base substitution G A missense_variant E369K 1105G>A UCEC-US 6 34500203 34500203 single base substitution G A missense_variant E411K 1231G>A UCEC-US 6 34500262 34500262 single base substitution C T downstream_gene_variant UCEC-US 6 34500262 34500262 single base substitution C T synonymous_variant S388S 1164C>T UCEC-US 6 34500262 34500262 single base substitution C T synonymous_variant S430S 1290C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3091 COSM4710790 c.1087G>A p.D363N Substitution - Missense 6:34531649-34531649 + TCGA-CA-6718-01 COSM5145378 c.789-3C>T p.? Unknown 6:34530240-34530240 + TCGA-BR-7717-01 COSM3873363 c.1131C>T p.G377G Substitution - coding silent 6:34531693-34531693 + TCGA-AZ-6601-01 COSM1443941 c.1206C>T p.D402D Substitution - coding silent 6:34531768-34531768 + TCGA-AA-3672-01 COSM267097 c.1068C>T p.Y356Y Substitution - coding silent 6:34531630-34531630 + BK0026 COSM4186541 c.1025G>A p.G342E Substitution - Missense 6:34530575-34530575 + CSCC-60-T COSM4504167 c.657C>T p.T219T Substitution - coding silent 6:34529710-34529710 + SF268 COSM1672322 c.1159G>A p.G387R Substitution - Missense 6:34531721-34531721 + TCGA-DK-A3IS-01 COSM1312108 c.1212C>G p.L404L Substitution - coding silent 6:34531774-34531774 + TCGA-D1-A0ZQ-01 COSM1078228 c.518delG p.E174fs*2 Deletion - Frameshift 6:34529458-34529458 + TCGA-60-2715-01 COSM742269 c.1139C>T p.P380L Substitution - Missense 6:34531701-34531701 + 2492720 COSM5720574 c.502A>C p.K168Q Substitution - Missense 6:34529442-34529442 + TCGA-AP-A059-01 COSM1078230 c.1194C>T p.G398G Substitution - coding silent 6:34531756-34531756 + WA56 COSM237915 c.1194C>G p.G398G Substitution - coding silent 6:34531756-34531756 + TCGA-AP-A059-01 COSM1078231 c.1224C>T p.A408A Substitution - coding silent 6:34531786-34531786 + T3091 COSM4710787 c.32C>T p.A11V Substitution - Missense 6:34526337-34526337 + TCGA-AM-5821-01 COSM283674 c.862C>T p.R288C Substitution - Missense 6:34530316-34530316 + TCGA-FW-A3R5-06 COSM3921556 c.766C>T p.L256F Substitution - Missense 6:34529819-34529819 + OSCC-GB_00760111 COSM4887139 c.891G>A p.M297I Substitution - Missense 6:34530345-34530345 + AOCS-165-1-X COSM4153311 c.339G>T p.V113V Substitution - coding silent 6:34528760-34528760 + 721LT COSM1546510 c.583G>T p.V195L Substitution - Missense 6:34529523-34529523 + CSCC-27-T COSM4550270 c.496G>A p.E166K Substitution - Missense 6:34529436-34529436 + TCGA-EB-A5UN-06 COSM3625885 c.399G>A p.K133K Substitution - coding silent 6:34528820-34528820 + CSCC-41-T COSM4563211 c.963G>A p.K321K Substitution - coding silent 6:34530513-34530513 + TCGA-ER-A194-01 COSM3625886 c.672G>A p.M224I Substitution - Missense 6:34529725-34529725 + OSCC-GB_00830111 COSM4889120 c.274G>C p.D92H Substitution - Missense 6:34528695-34528695 + CSCC-27-T COSM4524806 c.1293G>A p.G431G Substitution - coding silent 6:34532488-34532488 + TCGA-CM-6674-01 COSM5160797 c.666G>T p.Q222H Substitution - Missense 6:34529719-34529719 + HCC126T COSM3350894 c.1033G>A p.G345S Substitution - Missense 6:34530583-34530583 + TCGA-FR-A3R1-01 COSM3625891 c.1165C>T p.R389C Substitution - Missense 6:34531727-34531727 + ccRCC-89 COSM1663309 c.1052A>T p.D351V Substitution - Missense 6:34531614-34531614 + S02376 COSM5697235 c.1082C>G p.S361* Substitution - Nonsense 6:34531644-34531644 + 2250168 COSM5029734 c.934A>T p.T312S Substitution - Missense 6:34530484-34530484 + EGC8 COSM5061722 c.795C>A p.I265I Substitution - coding silent 6:34530249-34530249 + TCGA-ER-A193-06 COSM3625883 c.294C>T p.H98H Substitution - coding silent 6:34528715-34528715 + PT23_1 COSM1697026 c.538G>A p.E180K Substitution - Missense 6:34529478-34529478 + TCGA-GN-A266-06 COSM3625884 c.375C>T p.I125I Substitution - coding silent 6:34528796-34528796 + TCGA-EE-A182-06 COSM3625887 c.739G>A p.E247K Substitution - Missense 6:34529792-34529792 + TCGA-AZ-6598-01 COSM1443939 c.1037+1G>A p.? Unknown 6:34530588-34530588 + TCGA-QG-A5Z1-01 COSM5186404 c.1169delT p.V390fs*>55 Deletion - Frameshift 6:34531731-34531731 + TCGA-AZ-4315-01 COSM1443935 c.709T>A p.F237I Substitution - Missense 6:34529762-34529762 + TCGA-BS-A0UF-01 COSM1078232 c.1231G>A p.E411K Substitution - Missense 6:34532426-34532426 + HCC138T COSM5819103 c.1012A>G p.T338A Substitution - Missense 6:34530562-34530562 + AOCS-105-1-9 COSM4153312 c.613-2A>T p.? Unknown 6:34529664-34529664 + TCGA-EE-A2ML-06 COSM1672322 c.1159G>A p.G387R Substitution - Missense 6:34531721-34531721 + TCGA-DU-5852-01 COSM1443939 c.1037+1G>A p.? Unknown 6:34530588-34530588 + BD49T COSM5497829 c.1089C>T p.D363D Substitution - coding silent 6:34531651-34531651 + TCGA-BR-6452-01 COSM3873361 c.69G>A p.G23G Substitution - coding silent 6:34527337-34527337 + CRC-06T COSM5457260 c.1101C>G p.N367K Substitution - Missense 6:34531663-34531663 + TCGA-CG-5723-01 COSM3873364 c.1168G>A p.V390M Substitution - Missense 6:34531730-34531730 + TCGA-AA-A010-01 COSM283674 c.862C>T p.R288C Substitution - Missense 6:34530316-34530316 + MOLT-4 COSM1672321 c.422A>C p.K141T Substitution - Missense 6:34528843-34528843 + TCGA-D3-A3C7-06 COSM3625889 c.1090G>A p.E364K Substitution - Missense 6:34531652-34531652 + LUAD-B01811 COSM334705 c.1016C>T p.S339F Substitution - Missense 6:34530566-34530566 + TCGA-B5-A0K9-01 COSM1078229 c.1093A>C p.S365R Substitution - Missense 6:34531655-34531655 + TCGA-AA-3833-01 COSM5112576 c.1030C>T p.R344C Substitution - Missense 6:34530580-34530580 + QC2-30-T2 COSM5653651 c.454G>A p.E152K Substitution - Missense 6:34528875-34528875 + T3724 COSM4710788 c.826_827insG p.A278fs*2 Insertion - Frameshift 6:34530280-34530281 + TCGA-A5-A0VP-01 COSM1078233 c.1290C>T p.S430S Substitution - coding silent 6:34532485-34532485 + TCGA-AN-A0FL-01 COSM451332 c.1166G>A p.R389H Substitution - Missense 6:34531728-34531728 + YUHEF COSM1697026 c.538G>A p.E180K Substitution - Missense 6:34529478-34529478 + TCGA-AZ-4315-01 COSM1443936 c.782A>C p.N261T Substitution - Missense 6:34529835-34529835 + TCGA-AA-3663-01 COSM1443938 c.997delG p.A334fs*2 Deletion - Frameshift 6:34530547-34530547 + YUPROST COSM1697025 c.499G>A p.E167K Substitution - Missense 6:34529439-34529439 + ESCC-006T COSM3941710 c.633A>G p.K211K Substitution - coding silent 6:34529686-34529686 + TCGA-G4-6586-01 COSM1443940 c.1168delG p.V390fs*>55 Deletion - Frameshift 6:34531730-34531730 + TCGA-GF-A6C9-06 COSM1672322 c.1159G>A p.G387R Substitution - Missense 6:34531721-34531721 + TCGA-NH-A50U-01 COSM5180895 c.1037+9C>T p.? Unknown 6:34530596-34530596 + HCC28 COSM3662459 c.867C>T p.S289S Substitution - coding silent 6:34530321-34530321 + LUAD-NYU608 COSM375340 c.1225G>A p.G409R Substitution - Missense 6:34531787-34531787 + pfg043T COSM4752580 c.290T>G p.L97R Substitution - Missense 6:34528711-34528711 + TCGA-D9-A4Z3-01 COSM3625888 c.780G>A p.E260E Substitution - coding silent 6:34529833-34529833 + CSCC-41-T COSM4515430 c.1103_1104CC>TT p.P368L Substitution - Missense 6:34531665-34531666 + TCGA-AZ-4315-01 COSM1443933 c.358G>A p.A120T Substitution - Missense 6:34528779-34528779 + SJOS001_M COSM5023760 c.1158G>A p.K386K Substitution - coding silent 6:34531720-34531720 + SJHYPO022 COSM4775528 c.612+8C>T p.? Unknown 6:34529560-34529560 + 587376 COSM1219104 c.298G>A p.E100K Substitution - Missense 6:34528719-34528719 + HCC055T COSM5823968 c.1001C>A p.A334E Substitution - Missense 6:34530551-34530551 + TCGA-AM-5820-01 COSM283674 c.862C>T p.R288C Substitution - Missense 6:34530316-34530316 + TCGA-CM-6171-01 COSM1443934 c.391G>A p.E131K Substitution - Missense 6:34528812-34528812 + 98 COSM5011608 c.545C>T p.S182L Substitution - Missense 6:34529485-34529485 + 255 COSM3732105 c.1190A>C p.D397A Substitution - Missense 6:34531752-34531752 + 2492722 COSM5720574 c.502A>C p.K168Q Substitution - Missense 6:34529442-34529442 + ESO-083 COSM1260808 c.785G>A p.S262N Substitution - Missense 6:34529838-34529838 + TCGA-D5-6928-01 COSM1443937 c.921A>G p.P307P Substitution - coding silent 6:34530471-34530471 + HCC058T COSM5805293 c.680T>A p.M227K Substitution - Missense 6:34529733-34529733 + CHC1626T COSM4791649 c.270G>A p.E90E Substitution - coding silent 6:34528691-34528691 + TCGA-D3-A1QA-06 COSM1443941 c.1206C>T p.D402D Substitution - coding silent 6:34531768-34531768 + TCGA-CH-5765-01 COSM1131893 c.183C>A p.T61T Substitution - coding silent 6:34527451-34527451 + LUAD-F00368 COSM367729 c.49G>A p.D17N Substitution - Missense 6:34526354-34526354 + 2492721 COSM5720574 c.502A>C p.K168Q Substitution - Missense 6:34529442-34529442 + PCSI_0628_Pa_P_526 COSM5946229 c.682G>C p.E228Q Substitution - Missense 6:34529735-34529735 + TCGA-BP-4972-01 COSM483963 c.1038-2A>C p.? Unknown 6:34531598-34531598 + CHC1626T COSM4791649 c.270G>A p.E90E Substitution - coding silent 6:34528691-34528691 + TCGA-18-3409-01 COSM742270 c.1065C>T p.P355P Substitution - coding silent 6:34531627-34531627 + 2217761 COSM4422801 c.612+9G>A p.? Unknown 6:34529561-34529561 + TCGA-EJ-7784-01 COSM1472015 c.981G>A p.A327A Substitution - coding silent 6:34530531-34530531 + TCGA-ER-A42K-06 COSM4894775 c.796C>T p.H266Y Substitution - Missense 6:34530250-34530250 + 2492723 COSM5720574 c.502A>C p.K168Q Substitution - Missense 6:34529442-34529442 + YUPAER COSM3350897 c.1064C>T p.P355L Substitution - Missense 6:34531626-34531626 + CSCC-38-T COSM1697025 c.499G>A p.E167K Substitution - Missense 6:34529439-34529439 + T3503 COSM4710789 c.1032C>T p.R344R Substitution - coding silent 6:34530582-34530582 + HCC28T COSM3662459 c.867C>T p.S289S Substitution - coding silent 6:34530321-34530321 + TCGA-46-3765-01 COSM742271 c.885G>A p.M295I Substitution - Missense 6:34530339-34530339 + TCGA-AN-A046-01 COSM3830305 c.706C>A p.Q236K Substitution - Missense 6:34529759-34529759 + TCGA-BR-6852-01 COSM3873362 c.611A>G p.K204R Substitution - Missense 6:34529551-34529551 + T407 COSM4710791 c.1132G>A p.A378T Substitution - Missense 6:34531694-34531694 + TCGA-BR-A4IY-01 COSM3350894 c.1033G>A p.G345S Substitution - Missense 6:34530583-34530583 + LUAD_E00565 COSM389561 c.1021G>T p.A341S Substitution - Missense 6:34530571-34530571 + Pat_41_B COSM5870441 c.520G>A p.E174K Substitution - Missense 6:34529460-34529460 + TCGA-FS-A4FC-06 COSM3625890 c.1150G>A p.D384N Substitution - Missense 6:34531712-34531712 + DLD1 COSM4625784 c.427C>T p.Q143* Substitution - Nonsense 6:34528848-34528848 + MO_1012 COSM5547240 c.757delA p.K253fs*45 Deletion - Frameshift 6:34529810-34529810 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.520087 6p21.3 606512

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S365R c.1093A>C 6 34499432 UCEC A C SpliceAcceptorSNV . c.1038-2A>C 6 34499375 RCCC A G IntronicSNV . c.1-3166A>G 6 34490917 CLL A G Missense p.K204R c.611A>G 6 34497328 STAD C A Missense p.P380H c.1139C>A 6 34499478 LUAD C A Synonymous p.T61T c.183C>A 6 34495228 PRAD C G Synonymous p.L404L c.1212C>G 6 34499551 BLCA C T Missense p.P380L c.1139C>T 6 34499478 LUSC C T Synonymous p.D402D c.1206C>T 6 34499545 CM C T Synonymous p.H98H c.294C>T 6 34496492 CM C T Synonymous p.L80L c.238C>T 6 34496436 HNSC C T Synonymous p.P293P c.879C>T 6 34498110 HNSC C T Synonymous p.S430S c.1290C>T 6 34500262 UCEC C T Synonymous p.Y394Y c.1182C>T 6 34499521 HNSC G A Missense p.D351N c.1051G>A 6 34499390 CM G A Missense p.E247K c.739G>A 6 34497569 CM G A Missense p.E359K c.1075G>A 6 34499414 HNSC G A Missense p.E364K c.1090G>A 6 34499429 CM G A Missense p.E403K c.1207G>A 6 34499546 CM G A Missense p.G325R c.973G>A 6 34498300 CM G A Missense p.G387R c.1159G>A 6 34499498 CM G A Missense p.G78D c.233G>A 6 34496431 CM G A Missense p.M224I c.672G>A 6 34497502 CM G A Missense p.M295I c.885G>A 6 34498116 LUSC G A Missense p.R389H c.1166G>A 6 34499505 BRCA G A Missense p.S262N c.785G>A 6 34497615 ESCA G A SpliceDonorSNV . c.1037+1G>A 6 34498365 LGG G A Synonymous p.A327A c.981G>A 6 34498308 PRAD G A Synonymous p.R173R c.519G>A 6 34497236 CM G C Missense p.Q143H c.429G>C 6 34496627 LUAD G - Frameshift p.E174Rfs*2 c.520delG 6 34497235 UCEC G - Frameshift p.R427Gfs*60 c.1278delG 6 34500248 LUSC G T Nonsense p.E364* c.1090G>T 6 34499429 CM T C IntronicSNV . c.1-1052T>C 6 34493031 CLL