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 ACC 6 33423520 33423522 + In_Frame_Del DEL GAG GAG - TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr6:33423520_33423522delGAG c.643_645delGAG c.(643-645)gagdel p.E219del BLCA 6 33422949 33422949 + Silent SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr6:33422949G>A c.72G>A c.(70-72)caG>caA p.Q24Q BLCA 6 33423122 33423122 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr6:33423122C>T c.245C>T c.(244-246)gCg>gTg p.A82V BLCA 6 33423481 33423481 + Missense_Mutation SNP G G C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr6:33423481G>C c.604G>C c.(604-606)Gaa>Caa p.E202Q BLCA 6 33423781 33423781 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr6:33423781C>T c.904C>T c.(904-906)Cag>Tag p.Q302* BLCA 6 33424237 33424237 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr6:33424237C>G c.1360C>G c.(1360-1362)Ctc>Gtc p.L454V BRCA 6 33423207 33423207 + Silent SNP G G A TCGA-AO-A0J2-01A-11W-A050-09 TCGA-AO-A0J2-10A-01W-A055-09 g.chr6:33423207G>A c.330G>A c.(328-330)ctG>ctA p.L110L BRCA 6 33423526 33423526 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr6:33423526G>C c.649G>C c.(649-651)Gag>Cag p.E217Q BRCA 6 33423544 33423544 + Missense_Mutation SNP G G A TCGA-E9-A248-01A-11D-A167-09 TCGA-E9-A248-10A-01D-A167-09 g.chr6:33423544G>A c.667G>A c.(667-669)Gat>Aat p.D223N BRCA 6 33424124 33424124 + Missense_Mutation SNP G G A TCGA-EW-A1PH-01A-11D-A14K-09 TCGA-EW-A1PH-10A-01D-A14K-09 g.chr6:33424124G>A c.1247G>A c.(1246-1248)tGc>tAc p.C416Y COAD 6 33423693 33423693 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr6:33423693T>C c.816T>C c.(814-816)ctT>ctC p.L272L COADREAD 6 33423693 33423693 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr6:33423693T>C c.816T>C c.(814-816)ctT>ctC p.L272L DLBC 6 33423698 33423698 + Missense_Mutation SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:33423698C>G c.821C>G c.(820-822)gCc>gGc p.A274G ESCA 6 33423364 33423364 + Missense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr6:33423364A>T c.487A>T c.(487-489)Aca>Tca p.T163S ESCA 6 33424232 33424232 + Missense_Mutation SNP G G T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr6:33424232G>T c.1355G>T c.(1354-1356)tGt>tTt p.C452F GBMLGG 6 33423477 33423477 + Silent SNP A A C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr6:33423477A>C c.600A>C c.(598-600)ggA>ggC p.G200G GBMLGG 6 33423522 33423522 + Silent SNP G G A TCGA-HT-7695-01A-11D-2253-08 TCGA-HT-7695-10A-01D-2253-08 g.chr6:33423522G>A c.645G>A c.(643-645)gaG>gaA p.E215E GBMLGG 6 33423522 33423522 + Silent SNP G G A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 g.chr6:33423522G>A c.645G>A c.(643-645)gaG>gaA p.E215E HNSC 6 33422991 33422991 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr6:33422991G>A c.114G>A c.(112-114)ctG>ctA p.L38L HNSC 6 33423398 33423398 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr6:33423398C>T c.521C>T c.(520-522)tCg>tTg p.S174L HNSC 6 33423586 33423586 + Missense_Mutation SNP C C T TCGA-CV-5439-01A-01D-1683-08 TCGA-CV-5439-11B-01D-1683-08 g.chr6:33423586C>T c.709C>T c.(709-711)Ccc>Tcc p.P237S HNSC 6 33423997 33423997 + Missense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr6:33423997G>A c.1120G>A c.(1120-1122)Ggg>Agg p.G374R HNSC 6 33424102 33424102 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr6:33424102C>T c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W LGG 6 33423477 33423477 + Silent SNP A A C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr6:33423477A>C c.600A>C c.(598-600)ggA>ggC p.G200G LGG 6 33423522 33423522 + Silent SNP G G A TCGA-HT-7695-01A-11D-2253-08 TCGA-HT-7695-10A-01D-2253-08 g.chr6:33423522G>A c.645G>A c.(643-645)gaG>gaA p.E215E LGG 6 33423522 33423522 + Silent SNP G G A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 g.chr6:33423522G>A c.645G>A c.(643-645)gaG>gaA p.E215E LIHC 6 33423129 33423129 + Silent SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr6:33423129T>C c.252T>C c.(250-252)cgT>cgC p.R84R LIHC 6 33423514 33423514 + Missense_Mutation SNP G G A TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr6:33423514G>A c.637G>A c.(637-639)Gaa>Aaa p.E213K LIHC 6 33423704 33423704 + Missense_Mutation SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr6:33423704C>T c.827C>T c.(826-828)cCt>cTt p.P276L LIHC 6 33423961 33423961 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr6:33423961G>A c.1084G>A c.(1084-1086)Gga>Aga p.G362R LIHC 6 33424037 33424038 + Frame_Shift_Del DEL TG TG - TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr6:33424037_33424038delTG c.1160_1161delTG c.(1159-1161)ctgfs p.L387fs LIHC 6 33424110 33424110 + Missense_Mutation SNP T T A TCGA-FV-A3I1-01A-11D-A22F-10 TCGA-FV-A3I1-10A-01D-A22F-10 g.chr6:33424110T>A c.1233T>A c.(1231-1233)ttT>ttA p.F411L LUAD 6 33423463 33423463 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr6:33423463G>C c.586G>C c.(586-588)Gtg>Ctg p.V196L LUAD 6 33423488 33423488 + Missense_Mutation SNP G G T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr6:33423488G>T c.611G>T c.(610-612)gGa>gTa p.G204V LUAD 6 33423557 33423557 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr6:33423557G>T c.680G>T c.(679-681)gGg>gTg p.G227V LUAD 6 33423773 33423773 + Missense_Mutation SNP G G C TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr6:33423773G>C c.896G>C c.(895-897)aGc>aCc p.S299T LUAD 6 33423791 33423791 + Missense_Mutation SNP G G T TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr6:33423791G>T c.914G>T c.(913-915)gGa>gTa p.G305V LUAD 6 33424182 33424182 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 g.chr6:33424182A>T c.1305A>T c.(1303-1305)ggA>ggT p.G435G LUAD 6 33424243 33424243 + Missense_Mutation SNP C C T TCGA-93-A4JP-01A-11D-A24P-08 TCGA-93-A4JP-10A-01D-A24P-08 g.chr6:33424243C>T c.1366C>T c.(1366-1368)Cac>Tac p.H456Y LUSC 6 33422975 33422975 + Missense_Mutation SNP C C G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr6:33422975C>G c.98C>G c.(97-99)tCt>tGt p.S33C LUSC 6 33423652 33423652 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:33423652C>T c.775C>T c.(775-777)Ccc>Tcc p.P259S LUSC 6 33423675 33423675 + Missense_Mutation SNP G G T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr6:33423675G>T c.798G>T c.(796-798)gaG>gaT p.E266D LUSC 6 33424010 33424010 + Missense_Mutation SNP C C T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr6:33424010C>T c.1133C>T c.(1132-1134)cCt>cTt p.P378L PAAD 6 33423403 33423403 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:33423403T>G c.526T>G c.(526-528)Ttc>Gtc p.F176V PRAD 6 33423613 33423613 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 g.chr6:33423613C>T c.736C>T c.(736-738)Cgt>Tgt p.R246C PRAD 6 33423633 33423633 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:33423633A>G c.756A>G c.(754-756)ccA>ccG p.P252P PRAD 6 33423655 33423655 + Nonsense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 g.chr6:33423655C>T c.778C>T c.(778-780)Cga>Tga p.R260* SKCM 6 33423088 33423088 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr6:33423088C>T c.211C>T c.(211-213)Cct>Tct p.P71S SKCM 6 33423089 33423089 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr6:33423089C>T c.212C>T c.(211-213)cCt>cTt p.P71L SKCM 6 33423398 33423398 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:33423398C>T c.521C>T c.(520-522)tCg>tTg p.S174L SKCM 6 33423431 33423431 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr6:33423431C>T c.554C>T c.(553-555)tCt>tTt p.S185F SKCM 6 33423517 33423517 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr6:33423517G>A c.640G>A c.(640-642)Gaa>Aaa p.E214K SKCM 6 33423652 33423652 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr6:33423652C>T c.775C>T c.(775-777)Ccc>Tcc p.P259S SKCM 6 33423699 33423699 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:33423699C>T c.822C>T c.(820-822)gcC>gcT p.A274A SKCM 6 33423832 33423832 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:33423832G>A c.955G>A c.(955-957)Gaa>Aaa p.E319K SKCM 6 33423862 33423862 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:33423862C>T c.985C>T c.(985-987)Cct>Tct p.P329S SKCM 6 33423927 33423927 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr6:33423927G>A c.1050G>A c.(1048-1050)ggG>ggA p.G350G SKCM 6 33423954 33423954 + Silent SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr6:33423954A>G c.1077A>G c.(1075-1077)ggA>ggG p.G359G SKCM 6 33423956 33423956 + Missense_Mutation SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr6:33423956C>T c.1079C>T c.(1078-1080)cCt>cTt p.P360L

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 33419535 33419535 single base substitution A G upstream_gene_variant BLCA-US 6 33423481 33423481 single base substitution G C missense_variant E202Q 604G>C BLCA-US 6 33423781 33423781 single base substitution C T stop_gained Q302* 904C>T BLCA-US 6 33424237 33424237 single base substitution C G missense_variant L454V 1360C>G BRCA-EU 6 33417594 33417594 single base substitution A G upstream_gene_variant BRCA-EU 6 33417738 33417738 single base substitution C G upstream_gene_variant BRCA-EU 6 33420556 33420557 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 6 33420963 33420965 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 6 33422095 33422095 single base substitution C A upstream_gene_variant BRCA-EU 6 33422237 33422237 single base substitution C G upstream_gene_variant BRCA-EU 6 33422621 33422621 single base substitution G C intron_variant BRCA-EU 6 33423574 33423574 single base substitution C G missense_variant Q233E 697C>G BRCA-EU 6 33424083 33424083 single base substitution C T synonymous_variant I402I 1206C>T BRCA-EU 6 33425167 33425167 single base substitution A C 3_prime_UTR_variant BRCA-EU 6 33425547 33425547 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 33425606 33425606 single base substitution T G downstream_gene_variant BRCA-EU 6 33427923 33427923 single base substitution C G downstream_gene_variant BRCA-EU 6 33428373 33428373 single base substitution C G downstream_gene_variant BRCA-EU 6 33428790 33428790 single base substitution A C downstream_gene_variant BRCA-EU 6 33428882 33428882 single base substitution A T downstream_gene_variant BRCA-EU 6 33429839 33429839 single base substitution C T downstream_gene_variant BRCA-EU 6 33430217 33430217 single base substitution T C downstream_gene_variant BRCA-FR 6 33423574 33423574 single base substitution C G missense_variant Q233E 697C>G BRCA-FR 6 33427075 33427075 single base substitution A T downstream_gene_variant BRCA-FR 6 33428373 33428373 single base substitution C G downstream_gene_variant BRCA-UK 6 33419216 33419216 single base substitution G C upstream_gene_variant BRCA-US 6 33423207 33423207 single base substitution G A synonymous_variant L110L 330G>A BRCA-US 6 33423526 33423526 single base substitution G C missense_variant E217Q 649G>C BRCA-US 6 33423544 33423544 single base substitution G A missense_variant D223N 667G>A BRCA-US 6 33424124 33424124 single base substitution G A missense_variant C416Y 1247G>A BTCA-JP 6 33423260 33423260 single base substitution G A stop_gained W128* 383G>A BTCA-JP 6 33424104 33424104 single base substitution G T synonymous_variant R409R 1227G>T CESC-US 6 33420137 33420137 single base substitution C T upstream_gene_variant CLLE-ES 6 33423014 33423014 single base substitution A C missense_variant K46T 137A>C COAD-US 6 33419593 33419593 single base substitution G A upstream_gene_variant COAD-US 6 33423693 33423693 single base substitution T C synonymous_variant L272L 816T>C COAD-US 6 33423698 33423698 single base substitution C G missense_variant A274G 821C>G COCA-CN 6 33418656 33418656 single base substitution C T upstream_gene_variant COCA-CN 6 33419606 33419606 single base substitution G C upstream_gene_variant COCA-CN 6 33422857 33422857 single base substitution C A 5_prime_UTR_variant COCA-CN 6 33423522 33423522 single base substitution G A synonymous_variant E215E 645G>A COCA-CN 6 33428419 33428419 single base substitution A G downstream_gene_variant COCA-CN 6 33429275 33429275 single base substitution T A downstream_gene_variant EOPC-DE 6 33429325 33429325 single base substitution G A downstream_gene_variant ESAD-UK 6 33419141 33419141 single base substitution G A upstream_gene_variant ESAD-UK 6 33420559 33420559 single base substitution T A upstream_gene_variant ESAD-UK 6 33420639 33420639 single base substitution G A upstream_gene_variant ESAD-UK 6 33422260 33422260 single base substitution T G upstream_gene_variant ESAD-UK 6 33423544 33423544 single base substitution G A missense_variant D223N 667G>A ESAD-UK 6 33424260 33424260 single base substitution G C missense_variant K461N 1383G>C ESAD-UK 6 33425868 33425868 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 33428882 33428882 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 33428882 33428882 single base substitution A T downstream_gene_variant ESAD-UK 6 33429472 33429472 single base substitution C T downstream_gene_variant ESAD-UK 6 33429732 33429732 single base substitution G A downstream_gene_variant ESAD-UK 6 33429749 33429749 single base substitution G A downstream_gene_variant ESCA-CN 6 33419574 33419574 single base substitution G A upstream_gene_variant ESCA-CN 6 33424151 33424151 single base substitution A T missense_variant H425L 1274A>T KIRP-US 6 33423041 33423041 single base substitution A G missense_variant Q55R 164A>G LAML-KR 6 33428550 33428550 single base substitution G A downstream_gene_variant LGG-US 6 33423522 33423522 single base substitution G A synonymous_variant E215E 645G>A LICA-FR 6 33423427 33423427 single base substitution G A missense_variant A184T 550G>A LIHC-US 6 33424110 33424110 single base substitution T A missense_variant F411L 1233T>A LINC-JP 6 33419664 33419664 single base substitution G A upstream_gene_variant LINC-JP 6 33424198 33424198 single base substitution C T missense_variant P441S 1321C>T LINC-JP 6 33427041 33427041 single base substitution T C downstream_gene_variant LINC-JP 6 33427182 33427182 single base substitution A T downstream_gene_variant LIRI-JP 6 33417478 33417478 insertion of <=200bp - CT upstream_gene_variant LIRI-JP 6 33429519 33429519 single base substitution C A downstream_gene_variant LUSC-KR 6 33425158 33425158 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 33428442 33428442 single base substitution G A downstream_gene_variant LUSC-US 6 33422975 33422975 single base substitution C G missense_variant S33C 98C>G LUSC-US 6 33423652 33423652 single base substitution C T missense_variant P259S 775C>T LUSC-US 6 33423675 33423675 single base substitution G T missense_variant E266D 798G>T LUSC-US 6 33424010 33424010 single base substitution C T missense_variant P378L 1133C>T MALY-DE 6 33418296 33418297 deletion of <=200bp CA - upstream_gene_variant MALY-DE 6 33422314 33422314 single base substitution C G upstream_gene_variant MELA-AU 6 33417909 33417909 single base substitution C T upstream_gene_variant MELA-AU 6 33418764 33418764 single base substitution A C upstream_gene_variant MELA-AU 6 33418934 33418934 single base substitution C T upstream_gene_variant MELA-AU 6 33419345 33419346 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 33420690 33420690 single base substitution G A upstream_gene_variant MELA-AU 6 33420868 33420868 single base substitution C T upstream_gene_variant MELA-AU 6 33422244 33422244 single base substitution C T upstream_gene_variant MELA-AU 6 33422267 33422267 single base substitution G A upstream_gene_variant MELA-AU 6 33422277 33422277 single base substitution G A upstream_gene_variant MELA-AU 6 33422287 33422287 single base substitution C T upstream_gene_variant MELA-AU 6 33422316 33422316 single base substitution C T upstream_gene_variant MELA-AU 6 33422338 33422338 single base substitution C T upstream_gene_variant MELA-AU 6 33422358 33422358 single base substitution C T 5_prime_UTR_variant MELA-AU 6 33422834 33422834 single base substitution A G 5_prime_UTR_variant MELA-AU 6 33422953 33422953 single base substitution G T stop_gained E26* 76G>T MELA-AU 6 33423490 33423490 single base substitution G A missense_variant E205K 613G>A MELA-AU 6 33423664 33423664 single base substitution C T missense_variant P263S 787C>T MELA-AU 6 33423969 33423969 single base substitution C A synonymous_variant G364G 1092C>A MELA-AU 6 33424594 33424594 single base substitution C T 3_prime_UTR_variant MELA-AU 6 33424834 33424834 single base substitution C T 3_prime_UTR_variant MELA-AU 6 33424991 33424991 single base substitution C T 3_prime_UTR_variant MELA-AU 6 33425736 33425736 single base substitution C T downstream_gene_variant MELA-AU 6 33425879 33425879 single base substitution G A downstream_gene_variant MELA-AU 6 33426040 33426040 single base substitution C T downstream_gene_variant MELA-AU 6 33426284 33426285 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 6 33426386 33426386 single base substitution G A downstream_gene_variant MELA-AU 6 33426403 33426403 single base substitution C T downstream_gene_variant MELA-AU 6 33426647 33426647 single base substitution C T downstream_gene_variant MELA-AU 6 33426871 33426871 single base substitution G A downstream_gene_variant MELA-AU 6 33426897 33426897 single base substitution G A downstream_gene_variant MELA-AU 6 33427021 33427021 deletion of <=200bp T - downstream_gene_variant MELA-AU 6 33427064 33427064 single base substitution G A downstream_gene_variant MELA-AU 6 33427095 33427095 single base substitution G A downstream_gene_variant MELA-AU 6 33427159 33427159 single base substitution C T downstream_gene_variant MELA-AU 6 33427176 33427176 single base substitution C T downstream_gene_variant MELA-AU 6 33427230 33427230 single base substitution C T downstream_gene_variant MELA-AU 6 33427243 33427243 single base substitution C T downstream_gene_variant MELA-AU 6 33427297 33427297 single base substitution C T downstream_gene_variant MELA-AU 6 33427854 33427854 single base substitution C T downstream_gene_variant MELA-AU 6 33427965 33427965 single base substitution C T downstream_gene_variant MELA-AU 6 33428312 33428312 single base substitution C T downstream_gene_variant MELA-AU 6 33428419 33428419 single base substitution A G downstream_gene_variant MELA-AU 6 33428890 33428890 single base substitution G A downstream_gene_variant MELA-AU 6 33428891 33428891 single base substitution G A downstream_gene_variant MELA-AU 6 33429182 33429182 single base substitution C A downstream_gene_variant MELA-AU 6 33429348 33429348 single base substitution C T downstream_gene_variant MELA-AU 6 33429463 33429463 single base substitution C T downstream_gene_variant MELA-AU 6 33429502 33429502 single base substitution G A downstream_gene_variant MELA-AU 6 33429839 33429839 single base substitution C T downstream_gene_variant MELA-AU 6 33429943 33429943 single base substitution C T downstream_gene_variant MELA-AU 6 33430054 33430054 single base substitution C T downstream_gene_variant MELA-AU 6 33430270 33430270 single base substitution G A downstream_gene_variant ORCA-IN 6 33419664 33419664 single base substitution G A upstream_gene_variant ORCA-IN 6 33424086 33424086 single base substitution G A missense_variant M403I 1209G>A ORCA-IN 6 33426386 33426386 single base substitution G A downstream_gene_variant OV-AU 6 33422151 33422151 single base substitution G A upstream_gene_variant PACA-AU 6 33424214 33424214 single base substitution G A missense_variant R446Q 1337G>A PACA-AU 6 33425530 33425534 deletion of <=200bp TGTTT - downstream_gene_variant PACA-AU 6 33428882 33428882 single base substitution A T downstream_gene_variant PACA-CA 6 33429484 33429484 single base substitution G A downstream_gene_variant PAEN-AU 6 33421341 33421341 single base substitution A C upstream_gene_variant PAEN-AU 6 33421985 33421985 single base substitution G C upstream_gene_variant PBCA-DE 6 33418296 33418297 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 6 33421223 33421223 single base substitution G A upstream_gene_variant PBCA-DE 6 33423128 33423128 single base substitution G A missense_variant R84H 251G>A PBCA-DE 6 33427354 33427354 single base substitution G A downstream_gene_variant PBCA-DE 6 33428419 33428419 single base substitution A G downstream_gene_variant PRAD-UK 6 33423706 33423706 single base substitution G A missense_variant A277T 829G>A PRAD-UK 6 33428384 33428384 deletion of <=200bp T - downstream_gene_variant PRAD-US 6 33423613 33423613 single base substitution C T missense_variant R246C 736C>T RECA-EU 6 33419023 33419023 single base substitution A C upstream_gene_variant SKCA-BR 6 33421243 33421243 single base substitution C T upstream_gene_variant SKCA-BR 6 33422277 33422277 single base substitution G A upstream_gene_variant SKCA-BR 6 33422287 33422287 single base substitution C T upstream_gene_variant SKCA-BR 6 33423289 33423289 single base substitution C T missense_variant L138F 412C>T SKCA-BR 6 33425933 33425933 single base substitution C A downstream_gene_variant SKCA-BR 6 33426874 33426874 single base substitution C T downstream_gene_variant SKCA-BR 6 33427987 33427987 single base substitution G A downstream_gene_variant SKCM-US 6 33423398 33423398 single base substitution C T missense_variant S174L 521C>T SKCM-US 6 33423431 33423431 single base substitution C T missense_variant S185F 554C>T SKCM-US 6 33423517 33423517 single base substitution G A missense_variant E214K 640G>A SKCM-US 6 33423652 33423652 single base substitution C T missense_variant P259S 775C>T SKCM-US 6 33423699 33423699 single base substitution C T synonymous_variant A274A 822C>T SKCM-US 6 33423832 33423832 single base substitution G A missense_variant E319K 955G>A SKCM-US 6 33423862 33423862 single base substitution C T missense_variant P329S 985C>T SKCM-US 6 33423927 33423927 single base substitution G A synonymous_variant G350G 1050G>A SKCM-US 6 33423954 33423954 single base substitution A G synonymous_variant G359G 1077A>G SKCM-US 6 33423956 33423956 single base substitution C T missense_variant P360L 1079C>T STAD-US 6 33419549 33419549 deletion of <=200bp C - upstream_gene_variant STAD-US 6 33423510 33423510 single base substitution G A synonymous_variant V211V 633G>A STAD-US 6 33423605 33423605 deletion of <=200bp T - frameshift_variant V243 STAD-US 6 33423758 33423758 single base substitution A C missense_variant E294A 881A>C STAD-US 6 33424006 33424006 deletion of <=200bp C - frameshift_variant P377 STAD-US 6 33424018 33424018 single base substitution G A missense_variant G381R 1141G>A THCA-SA 6 33425158 33425158 single base substitution T C 3_prime_UTR_variant THCA-US 6 33423522 33423522 single base substitution G A synonymous_variant E215E 645G>A UCEC-US 6 33423452 33423452 single base substitution C G missense_variant T192S 575C>G UCEC-US 6 33423747 33423747 single base substitution C T synonymous_variant F290F 870C>T UCEC-US 6 33424240 33424240 single base substitution C T missense_variant R455C 1363C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-49-T COSM3374251 c.645G>A p.E215E Substitution - coding silent 6:33455745-33455745 + C391 COSM4441816 c.418G>T p.E140* Substitution - Nonsense 6:33455518-33455518 + TCGA-AP-A0LG-01 COSM1078082 c.575C>G p.T192S Substitution - Missense 6:33455675-33455675 + OSCC-GB_01060111 COSM4882759 c.1209G>A p.M403I Substitution - Missense 6:33456309-33456309 + TCGA-FS-A1ZK-06 COSM3625763 c.640G>A p.E214K Substitution - Missense 6:33455740-33455740 + TCGA-FY-A3R9-01 COSM3374251 c.645G>A p.E215E Substitution - coding silent 6:33455745-33455745 + PT31 COSM5906790 c.1397C>T p.A466V Substitution - Missense 6:33456497-33456497 + TCGA-EE-A2MR-06 COSM3625761 c.521C>T p.S174L Substitution - Missense 6:33455621-33455621 + CSCC-44-T COSM4560898 c.861G>A p.Q287Q Substitution - coding silent 6:33455961-33455961 + TCGA-D9-A6EC-06 COSM4402756 c.822C>T p.A274A Substitution - coding silent 6:33455922-33455922 + ESCC_55 COSM5632027 c.1083G>T p.G361G Substitution - coding silent 6:33456183-33456183 + TCGA-G2-A2EF-01 COSM1312092 c.904C>T p.Q302* Substitution - Nonsense 6:33456004-33456004 + BD124T COSM5492056 c.1227G>T p.R409R Substitution - coding silent 6:33456327-33456327 + 276 COSM146114 c.137A>C p.K46T Substitution - Missense 6:33455237-33455237 + DLD1 COSM4625778 c.475C>T p.L159F Substitution - Missense 6:33455575-33455575 + TCGA-BR-8081-01 COSM3873219 c.1141G>A p.G381R Substitution - Missense 6:33456241-33456241 + TCGA-FW-A3R5-06 COSM3921532 c.955G>A p.E319K Substitution - Missense 6:33456055-33456055 + TCGA-B5-A0JY-01 COSM1078083 c.870C>T p.F290F Substitution - coding silent 6:33455970-33455970 + HCC162T COSM3662443 c.1321C>T p.P441S Substitution - Missense 6:33456421-33456421 + TCGA-HT-7695-01 COSM3374251 c.645G>A p.E215E Substitution - coding silent 6:33455745-33455745 + PT08_1 COSM3350103 c.733C>T p.P245S Substitution - Missense 6:33455833-33455833 + TCGA-EE-A181-06 COSM3625764 c.1050G>A p.G350G Substitution - coding silent 6:33456150-33456150 + CHC429T COSM3669591 c.550G>A p.A184T Substitution - Missense 6:33455650-33455650 + 8044865 COSM1157991 c.1337G>A p.R446Q Substitution - Missense 6:33456437-33456437 + CHC429T COSM3669591 c.550G>A p.A184T Substitution - Missense 6:33455650-33455650 + PACA115 COSM1157991 c.1337G>A p.R446Q Substitution - Missense 6:33456437-33456437 + TCGA-BQ-5884-01 COSM3994885 c.164A>G p.Q55R Substitution - Missense 6:33455264-33455264 + LP6007404-DNA_A01 COSM1487670 c.667G>A p.D223N Substitution - Missense 6:33455767-33455767 + HCC2998 COSM3350101 c.444T>G p.I148M Substitution - Missense 6:33455544-33455544 + cSCCP4 COSM138555 c.695C>T p.S232F Substitution - Missense 6:33455795-33455795 + I2L-P28-Tumor-Organoid COSM5357626 c.352C>T p.H118Y Substitution - Missense 6:33455452-33455452 + H1155 COSM1195861 c.538G>A p.V180I Substitution - Missense 6:33455638-33455638 + TCGA-63-5128-01 COSM742309 c.1133C>T p.P378L Substitution - Missense 6:33456233-33456233 + TCGA-FJ-A3ZF-01 COSM3777576 c.1360C>G p.L454V Substitution - Missense 6:33456460-33456460 + Pat_26_A COSM5870406 c.211delC p.P71fs*60 Deletion - Frameshift 6:33455311-33455311 + TCGA-D7-A4YV-01 COSM3873218 c.881A>C p.E294A Substitution - Missense 6:33455981-33455981 + 0112_CRUK_PC_0112_T1_DNA COSM5424049 c.829G>A p.A277T Substitution - Missense 6:33455929-33455929 + SNU-175 COSM3350110 c.1097C>T p.A366V Substitution - Missense 6:33456197-33456197 + TCGA-EE-A3JD-06 COSM4394645 c.985C>T p.P329S Substitution - Missense 6:33456085-33456085 + HN_62755 COSM130284 c.637G>C p.E213Q Substitution - Missense 6:33455737-33455737 + TCGA-D3-A2JN-06 COSM742311 c.775C>T p.P259S Substitution - Missense 6:33455875-33455875 + 1604875 COSM141157 c.458G>A p.G153E Substitution - Missense 6:33455558-33455558 + TCGA-FV-A3I1-01 COSM4929180 c.1233T>A p.F411L Substitution - Missense 6:33456333-33456333 + TCGA-EE-A2GL-06 COSM3625765 c.1079C>T p.P360L Substitution - Missense 6:33456179-33456179 + TCGA-AO-A0J2-01 COSM451314 c.330G>A p.L110L Substitution - coding silent 6:33455430-33455430 + TCGA-37-3789-01 COSM742312 c.98C>G p.S33C Substitution - Missense 6:33455198-33455198 + WSU-HN8 COSM4161084 c.326G>C p.R109P Substitution - Missense 6:33455426-33455426 + 39 COSM5011604 c.323T>C p.L108P Substitution - Missense 6:33455423-33455423 + TCGA-DK-A3WX-01 COSM3777575 c.604G>C p.E202Q Substitution - Missense 6:33455704-33455704 + 276-01-4TD COSM146114 c.137A>C p.K46T Substitution - Missense 6:33455237-33455237 + CSCC-27-T COSM4516101 c.156_157CC>TT p.(=) Unknown 6:33455256-33455257 + 407 COSM4430320 c.922G>T p.E308* Substitution - Nonsense 6:33456022-33456022 + TCGA-18-3409-01 COSM742311 c.775C>T p.P259S Substitution - Missense 6:33455875-33455875 + CAL33 COSM4161084 c.326G>C p.R109P Substitution - Missense 6:33455426-33455426 + TCGA-D1-A167-01 COSM1078084 c.1363C>T p.R455C Substitution - Missense 6:33456463-33456463 + TCGA-CM-5349-01 COSM1443829 c.816T>C p.L272L Substitution - coding silent 6:33455916-33455916 + TCGA-D3-A5GU-06 COSM3625762 c.554C>T p.S185F Substitution - Missense 6:33455654-33455654 + 722_T COSM3949098 c.227A>G p.K76R Substitution - Missense 6:33455327-33455327 + I2L-P28-Tumor-Biopsy COSM5357626 c.352C>T p.H118Y Substitution - Missense 6:33455452-33455452 + T3021 COSM4742227 c.728delT p.R246fs*10 Deletion - Frameshift 6:33455828-33455828 + C135 COSM4618604 c.364G>A p.A122T Substitution - Missense 6:33455464-33455464 + TCGA-D8-A1JA-01 COSM3830271 c.649G>C p.E217Q Substitution - Missense 6:33455749-33455749 + TCGA-33-4538-01 COSM742310 c.798G>T p.E266D Substitution - Missense 6:33455898-33455898 + HCT8 COSM4635383 c.1066G>A p.G356R Substitution - Missense 6:33456166-33456166 + TCGA-D1-A17Q-01 COSM1078083 c.870C>T p.F290F Substitution - coding silent 6:33455970-33455970 + TCGA-BR-8680-01 COSM3873217 c.633G>A p.V211V Substitution - coding silent 6:33455733-33455733 + TCGA-E9-A248-01 COSM1487670 c.667G>A p.D223N Substitution - Missense 6:33455767-33455767 + PTC-70C COSM4161084 c.326G>C p.R109P Substitution - Missense 6:33455426-33455426 + CSCC-49-T COSM4461207 c.1197C>T p.D399D Substitution - coding silent 6:33456297-33456297 + TCGA-EW-A1PH-01 COSM1487671 c.1247G>A p.C416Y Substitution - Missense 6:33456347-33456347 + TCGA-AY-6386-01 COSM3697793 c.821C>G p.A274G Substitution - Missense 6:33455921-33455921 + BD10T COSM5514517 c.383G>A p.W128* Substitution - Nonsense 6:33455483-33455483 + TCGA-EE-A3AB-06 COSM3921533 c.1077A>G p.G359G Substitution - coding silent 6:33456177-33456177 + 93VU147T COSM4161084 c.326G>C p.R109P Substitution - Missense 6:33455426-33455426 + ESCC_BICR_034T COSM5443555 c.1274A>T p.H425L Substitution - Missense 6:33456374-33456374 + TCGA-HC-8216-01 COSM3350104 c.736C>T p.R246C Substitution - Missense 6:33455836-33455836 + HCC162 COSM3662443 c.1321C>T p.P441S Substitution - Missense 6:33456421-33456421 + 3206A7_009_T COSM5043351 c.779G>T p.R260L Substitution - Missense 6:33455879-33455879 + PT08_2 COSM3350103 c.733C>T p.P245S Substitution - Missense 6:33455833-33455833 + sysucc-834T COSM3374251 c.645G>A p.E215E Substitution - coding silent 6:33455745-33455745 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591805 6p21.32

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K46T c.137A>C 6 33423014 CLL A G Synonymous p.G359G c.1077A>G 6 33423954 CM CC TT Missense p.P71F c.211_212delinsTT 6 33423088 CM CC TT Missense p.R151C c.450_451delinsTT 6 33423327 CM C G Missense p.S33C c.98C>G 6 33422975 LUSC C G Missense p.T192S c.575C>G 6 33423452 UCEC C T Missense p.P237S c.709C>T 6 33423586 HNSC C T Missense p.P245S c.733C>T 6 33423610 CM C T Missense p.P259S c.775C>T 6 33423652 CM C T Missense p.P329S c.985C>T 6 33423862 CM C T Missense p.P360L c.1079C>T 6 33423956 CM C T Missense p.P378L c.1133C>T 6 33424010 LUSC C T Missense p.R246C c.736C>T 6 33423613 PRAD C T Missense p.R445C c.1333C>T 6 33424210 CM C T Missense p.S105L c.314C>T 6 33423191 CM C T Nonsense p.Q302* c.904C>T 6 33423781 BLCA G A Missense p.C416Y c.1247G>A 6 33424124 BRCA G A Missense p.D223N c.667G>A 6 33423544 BRCA G A Missense p.E214K c.640G>A 6 33423517 CM G A Missense p.G374R c.1120G>A 6 33423997 HNSC G A Synonymous p.E215E c.645G>A 6 33423522 LGG G A Synonymous p.E215E c.645G>A 6 33423522 THCA G A Synonymous p.G350G c.1050G>A 6 33423927 CM G A Synonymous p.L110L c.330G>A 6 33423207 BRCA G C Missense p.E213Q c.637G>C 6 33423514 HNSC G T Missense p.A12S c.34G>T 6 33422911 CM G T Missense p.E266D c.798G>T 6 33423675 LUSC G T Missense p.G204V c.611G>T 6 33423488 LUAD G T Missense p.G227V c.680G>T 6 33423557 LUAD T A Synonymous p.L160L c.480T>A 6 33423357 STAD