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 1 33613111 33613111 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:33613111G>A c.1095C>T c.(1093-1095)atC>atT p.I365I BLCA 1 33613158 33613158 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr1:33613158C>T c.1048G>A c.(1048-1050)Gtc>Atc p.V350I BLCA 1 33613176 33613176 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr1:33613176C>A c.1030G>T c.(1030-1032)Gaa>Taa p.E344* BLCA 1 33625512 33625512 + Missense_Mutation SNP C C T TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr1:33625512C>T c.538G>A c.(538-540)Gag>Aag p.E180K BLCA 1 33631078 33631078 + Missense_Mutation SNP C C G TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr1:33631078C>G c.498G>C c.(496-498)gaG>gaC p.E166D BLCA 1 33646983 33646983 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr1:33646983G>C c.51C>G c.(49-51)atC>atG p.I17M BRCA 1 33623922 33623922 + Frame_Shift_Del DEL G G - TCGA-AC-A2FE-01A-11D-A19Y-09 TCGA-AC-A2FE-11B-22D-A19Y-09 g.chr1:33623922delG c.809delC c.(808-810)ccgfs p.P270fs CESC 1 33613039 33613039 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:33613039G>A c.1167C>T c.(1165-1167)atC>atT p.I389I COAD 1 33612881 33612881 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:33612881C>T c.1325G>A c.(1324-1326)cGc>cAc p.R442H COAD 1 33613274 33613274 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33613274G>A c.932C>T c.(931-933)tCg>tTg p.S311L COAD 1 33613287 33613287 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:33613287G>A c.919C>T c.(919-921)Cgc>Tgc p.R307C COAD 1 33625383 33625383 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:33625383G>A c.667C>T c.(667-669)Cgc>Tgc p.R223C COAD 1 33625481 33625481 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:33625481C>T c.569G>A c.(568-570)cGt>cAt p.R190H COADREAD 1 33612881 33612881 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:33612881C>T c.1325G>A c.(1324-1326)cGc>cAc p.R442H COADREAD 1 33612944 33612944 + Missense_Mutation SNP T T C TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr1:33612944T>C c.1262A>G c.(1261-1263)gAc>gGc p.D421G COADREAD 1 33613274 33613274 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33613274G>A c.932C>T c.(931-933)tCg>tTg p.S311L COADREAD 1 33613287 33613287 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:33613287G>A c.919C>T c.(919-921)Cgc>Tgc p.R307C COADREAD 1 33625383 33625383 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:33625383G>A c.667C>T c.(667-669)Cgc>Tgc p.R223C COADREAD 1 33625481 33625481 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:33625481C>T c.569G>A c.(568-570)cGt>cAt p.R190H ESCA 1 33612835 33612835 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr1:33612835C>T c.1371G>A c.(1369-1371)caG>caA p.Q457Q ESCA 1 33613224 33613224 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr1:33613224G>A c.982C>T c.(982-984)Cag>Tag p.Q328* GBM 1 33625475 33625475 + Missense_Mutation SNP C C T TCGA-06-5408-01A-01D-1696-08 TCGA-06-5408-10A-01D-1696-08 g.chr1:33625475C>T c.575G>A c.(574-576)cGc>cAc p.R192H GBM 1 33646782 33646782 + Silent SNP G G C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr1:33646782G>C c.252C>G c.(250-252)ctC>ctG p.L84L GBMLGG 1 33612935 33612935 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33612935T>C c.1271A>G c.(1270-1272)cAa>cGa p.Q424R GBMLGG 1 33625475 33625475 + Missense_Mutation SNP C C T TCGA-06-5408-01A-01D-1696-08 TCGA-06-5408-10A-01D-1696-08 g.chr1:33625475C>T c.575G>A c.(574-576)cGc>cAc p.R192H GBMLGG 1 33646764 33646764 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33646764C>T c.270G>A c.(268-270)gcG>gcA p.A90A GBMLGG 1 33646782 33646782 + Silent SNP G G C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr1:33646782G>C c.252C>G c.(250-252)ctC>ctG p.L84L HNSC 1 33625294 33625294 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr1:33625294G>A c.756C>T c.(754-756)tcC>tcT p.S252S HNSC 1 33625346 33625346 + Missense_Mutation SNP C C T TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr1:33625346C>T c.704G>A c.(703-705)cGg>cAg p.R235Q HNSC 1 33646718 33646718 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr1:33646718C>T c.316G>A c.(316-318)Gac>Aac p.D106N KIPAN 1 33612870 33612870 + Missense_Mutation SNP G G A TCGA-B8-4151-01A-01D-1806-10 TCGA-B8-4151-10A-01D-1251-10 g.chr1:33612870G>A c.1336C>T c.(1336-1338)Cct>Tct p.P446S KIPAN 1 33612891 33612891 + Missense_Mutation SNP A A G TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr1:33612891A>G c.1315T>C c.(1315-1317)Tac>Cac p.Y439H KIRC 1 33612870 33612870 + Missense_Mutation SNP G G A TCGA-B8-4151-01A-01D-1806-10 TCGA-B8-4151-10A-01D-1251-10 g.chr1:33612870G>A c.1336C>T c.(1336-1338)Cct>Tct p.P446S KIRC 1 33612891 33612891 + Missense_Mutation SNP A A G TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr1:33612891A>G c.1315T>C c.(1315-1317)Tac>Cac p.Y439H LGG 1 33612935 33612935 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33612935T>C c.1271A>G c.(1270-1272)cAa>cGa p.Q424R LGG 1 33646764 33646764 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33646764C>T c.270G>A c.(268-270)gcG>gcA p.A90A LIHC 1 33646996 33646996 + Missense_Mutation SNP A A G TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr1:33646996A>G c.38T>C c.(37-39)aTc>aCc p.I13T LUAD 1 33613131 33613131 + Missense_Mutation SNP C C G TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:33613131C>G c.1075G>C c.(1075-1077)Gag>Cag p.E359Q LUAD 1 33623925 33623925 + Missense_Mutation SNP A A G TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr1:33623925A>G c.806T>C c.(805-807)tTc>tCc p.F269S LUAD 1 33646644 33646644 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:33646644G>A c.390C>T c.(388-390)gaC>gaT p.D130D PAAD 1 33625357 33625357 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:33625357G>A c.693C>T c.(691-693)atC>atT p.I231I PCPG 1 33612992 33612992 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 g.chr1:33612992G>A c.1214C>T c.(1213-1215)aCg>aTg p.T405M PRAD 1 33612961 33612961 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:33612961C>A c.1245G>T c.(1243-1245)aaG>aaT p.K415N PRAD 1 33612987 33612987 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:33612987G>T c.1219C>A c.(1219-1221)Ctt>Att p.L407I PRAD 1 33625513 33625513 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:33625513G>A c.537C>T c.(535-537)ggC>ggT p.G179G READ 1 33612944 33612944 + Missense_Mutation SNP T T C TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr1:33612944T>C c.1262A>G c.(1261-1263)gAc>gGc p.D421G SKCM 1 33613051 33613051 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:33613051G>A c.1155C>T c.(1153-1155)ggC>ggT p.G385G SKCM 1 33623903 33623903 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:33623903G>A c.828C>T c.(826-828)ggC>ggT p.G276G SKCM 1 33625297 33625297 + Silent SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr1:33625297C>G c.753G>C c.(751-753)ctG>ctC p.L251L SKCM 1 33625345 33625345 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:33625345C>T c.705G>A c.(703-705)cgG>cgA p.R235R SKCM 1 33631164 33631164 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:33631164C>T c.412G>A c.(412-414)Gag>Aag p.E138K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 1 33631114 33631114 single base substitution G A exon_variant AML-US 1 33631114 33631114 single base substitution G A synonymous_variant T154T 462C>T AML-US 1 33631114 33631114 single base substitution G A synonymous_variant T33T 99C>T BLCA-CN 1 33646754 33646754 single base substitution G T downstream_gene_variant BLCA-CN 1 33646754 33646754 single base substitution G T exon_variant BLCA-CN 1 33646754 33646754 single base substitution G T missense_variant Q94K 280C>A BLCA-CN 1 33646754 33646754 single base substitution G T upstream_gene_variant BLCA-US 1 33613176 33613176 single base substitution C A stop_gained E223* 667G>T BLCA-US 1 33613176 33613176 single base substitution C A stop_gained E344* 1030G>T BRCA-EU 1 33606646 33606646 single base substitution T A downstream_gene_variant BRCA-EU 1 33608666 33608666 single base substitution C A downstream_gene_variant BRCA-EU 1 33609586 33609586 single base substitution G T downstream_gene_variant BRCA-EU 1 33613176 33613176 single base substitution C T missense_variant E223K 667G>A BRCA-EU 1 33613176 33613176 single base substitution C T missense_variant E344K 1030G>A BRCA-EU 1 33614930 33614930 single base substitution T G intron_variant BRCA-EU 1 33615363 33615363 single base substitution C G intron_variant BRCA-EU 1 33615408 33615408 single base substitution C T intron_variant BRCA-EU 1 33616576 33616576 single base substitution A G intron_variant BRCA-EU 1 33616904 33616904 single base substitution G A intron_variant BRCA-EU 1 33617525 33617525 single base substitution G C intron_variant BRCA-EU 1 33619657 33619657 single base substitution C G intron_variant BRCA-EU 1 33619821 33619821 single base substitution G C intron_variant BRCA-EU 1 33620059 33620059 single base substitution C T intron_variant BRCA-EU 1 33623532 33623532 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 33623532 33623532 insertion of <=200bp - A intron_variant BRCA-EU 1 33627282 33627282 single base substitution G A intron_variant BRCA-EU 1 33629289 33629289 single base substitution C A intron_variant BRCA-EU 1 33633004 33633004 single base substitution G A intron_variant BRCA-EU 1 33633978 33633978 single base substitution C G intron_variant BRCA-EU 1 33634188 33634188 single base substitution G A intron_variant BRCA-EU 1 33634206 33634206 single base substitution G A intron_variant BRCA-EU 1 33634666 33634666 single base substitution G A intron_variant BRCA-EU 1 33635183 33635183 single base substitution G A intron_variant BRCA-EU 1 33636015 33636015 single base substitution C A intron_variant BRCA-EU 1 33639735 33639735 single base substitution C G intron_variant BRCA-EU 1 33639922 33639922 single base substitution A G intron_variant BRCA-EU 1 33640029 33640029 single base substitution C G intron_variant BRCA-EU 1 33640080 33640080 single base substitution C T intron_variant BRCA-EU 1 33641230 33641230 single base substitution A C intron_variant BRCA-EU 1 33641488 33641488 single base substitution A G intron_variant BRCA-EU 1 33642883 33642883 single base substitution G C downstream_gene_variant BRCA-EU 1 33642883 33642883 single base substitution G C intron_variant BRCA-EU 1 33642883 33642883 single base substitution G C upstream_gene_variant BRCA-EU 1 33643038 33643038 single base substitution G A downstream_gene_variant BRCA-EU 1 33643038 33643038 single base substitution G A intron_variant BRCA-EU 1 33643038 33643038 single base substitution G A upstream_gene_variant BRCA-EU 1 33643124 33643124 single base substitution G A downstream_gene_variant BRCA-EU 1 33643124 33643124 single base substitution G A intron_variant BRCA-EU 1 33643124 33643124 single base substitution G A upstream_gene_variant BRCA-EU 1 33643136 33643136 single base substitution G T downstream_gene_variant BRCA-EU 1 33643136 33643136 single base substitution G T intron_variant BRCA-EU 1 33643136 33643136 single base substitution G T upstream_gene_variant BRCA-EU 1 33643151 33643151 single base substitution G C downstream_gene_variant BRCA-EU 1 33643151 33643151 single base substitution G C intron_variant BRCA-EU 1 33643151 33643151 single base substitution G C upstream_gene_variant BRCA-EU 1 33643292 33643292 single base substitution G A downstream_gene_variant BRCA-EU 1 33643292 33643292 single base substitution G A intron_variant BRCA-EU 1 33643292 33643292 single base substitution G A upstream_gene_variant BRCA-EU 1 33644147 33644147 single base substitution G A downstream_gene_variant BRCA-EU 1 33644147 33644147 single base substitution G A intron_variant BRCA-EU 1 33644147 33644147 single base substitution G A upstream_gene_variant BRCA-EU 1 33645405 33645405 single base substitution C T downstream_gene_variant BRCA-EU 1 33645405 33645405 single base substitution C T intron_variant BRCA-EU 1 33645405 33645405 single base substitution C T upstream_gene_variant BRCA-EU 1 33648181 33648181 single base substitution A G upstream_gene_variant BRCA-EU 1 33648631 33648631 single base substitution G T upstream_gene_variant BRCA-EU 1 33649245 33649245 single base substitution C T upstream_gene_variant BRCA-EU 1 33650504 33650504 single base substitution C A upstream_gene_variant BRCA-EU 1 33651904 33651904 single base substitution T G upstream_gene_variant BRCA-EU 1 33652186 33652186 single base substitution C A upstream_gene_variant BRCA-FR 1 33617525 33617525 single base substitution G C intron_variant BRCA-FR 1 33631353 33631353 single base substitution G C intron_variant BRCA-FR 1 33640936 33640936 single base substitution C T intron_variant BTCA-JP 1 33612882 33612882 single base substitution G A missense_variant R321C 961C>T BTCA-JP 1 33612882 33612882 single base substitution G A missense_variant R442C 1324C>T CESC-US 1 33613039 33613039 single base substitution G A synonymous_variant I268I 804C>T CESC-US 1 33613039 33613039 single base substitution G A synonymous_variant I389I 1167C>T CLLE-ES 1 33622530 33622530 single base substitution T C downstream_gene_variant CLLE-ES 1 33622530 33622530 single base substitution T C intron_variant COAD-US 1 33612881 33612881 single base substitution C T missense_variant R321H 962G>A COAD-US 1 33612881 33612881 single base substitution C T missense_variant R442H 1325G>A COAD-US 1 33613274 33613274 single base substitution G A missense_variant S190L 569C>T COAD-US 1 33613274 33613274 single base substitution G A missense_variant S311L 932C>T COAD-US 1 33646950 33646950 single base substitution A G exon_variant COAD-US 1 33646950 33646950 single base substitution A G synonymous_variant H28H 84T>C COAD-US 1 33646950 33646950 single base substitution A G upstream_gene_variant COCA-CN 1 33613038 33613038 single base substitution C T missense_variant V269M 805G>A COCA-CN 1 33613038 33613038 single base substitution C T missense_variant V390M 1168G>A COCA-CN 1 33613159 33613159 single base substitution G A synonymous_variant G228G 684C>T COCA-CN 1 33613159 33613159 single base substitution G A synonymous_variant G349G 1047C>T COCA-CN 1 33624026 33624026 single base substitution C T downstream_gene_variant COCA-CN 1 33624026 33624026 single base substitution C T intron_variant COCA-CN 1 33631208 33631208 single base substitution C T intron_variant COCA-CN 1 33646561 33646561 single base substitution A C downstream_gene_variant COCA-CN 1 33646561 33646561 single base substitution A C intron_variant COCA-CN 1 33646561 33646561 single base substitution A C upstream_gene_variant EOPC-DE 1 33635284 33635284 single base substitution C T intron_variant ESAD-UK 1 33606037 33606037 single base substitution C A downstream_gene_variant ESAD-UK 1 33606619 33606619 single base substitution C T downstream_gene_variant ESAD-UK 1 33609167 33609167 single base substitution C T downstream_gene_variant ESAD-UK 1 33623205 33623205 single base substitution T G downstream_gene_variant ESAD-UK 1 33623205 33623205 single base substitution T G intron_variant ESAD-UK 1 33623922 33623922 single base substitution G A downstream_gene_variant ESAD-UK 1 33623922 33623922 single base substitution G A missense_variant P149L 446C>T ESAD-UK 1 33623922 33623922 single base substitution G A missense_variant P270L 809C>T ESAD-UK 1 33624035 33624035 single base substitution C T downstream_gene_variant ESAD-UK 1 33624035 33624035 single base substitution C T intron_variant ESAD-UK 1 33624297 33624297 single base substitution C T downstream_gene_variant ESAD-UK 1 33624297 33624297 single base substitution C T intron_variant ESAD-UK 1 33624510 33624510 single base substitution C T downstream_gene_variant ESAD-UK 1 33624510 33624510 single base substitution C T intron_variant ESAD-UK 1 33625241 33625241 single base substitution C T downstream_gene_variant ESAD-UK 1 33625241 33625241 single base substitution C T intron_variant ESAD-UK 1 33626632 33626632 single base substitution C A intron_variant ESAD-UK 1 33627589 33627589 single base substitution G T intron_variant ESAD-UK 1 33627891 33627891 single base substitution C G intron_variant ESAD-UK 1 33628079 33628079 single base substitution A C intron_variant ESAD-UK 1 33631710 33631710 single base substitution T G intron_variant ESAD-UK 1 33635269 33635269 single base substitution G A intron_variant ESAD-UK 1 33640004 33640004 single base substitution C T intron_variant ESAD-UK 1 33642194 33642194 single base substitution C T downstream_gene_variant ESAD-UK 1 33642194 33642194 single base substitution C T intron_variant ESAD-UK 1 33642194 33642194 single base substitution C T upstream_gene_variant ESAD-UK 1 33643404 33643404 single base substitution C A downstream_gene_variant ESAD-UK 1 33643404 33643404 single base substitution C A intron_variant ESAD-UK 1 33643404 33643404 single base substitution C A upstream_gene_variant ESAD-UK 1 33643747 33643747 single base substitution C T downstream_gene_variant ESAD-UK 1 33643747 33643747 single base substitution C T intron_variant ESAD-UK 1 33643747 33643747 single base substitution C T upstream_gene_variant ESAD-UK 1 33645037 33645037 single base substitution G A downstream_gene_variant ESAD-UK 1 33645037 33645037 single base substitution G A intron_variant ESAD-UK 1 33645037 33645037 single base substitution G A upstream_gene_variant ESAD-UK 1 33645808 33645808 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 33645808 33645808 deletion of <=200bp A - intron_variant ESAD-UK 1 33645808 33645808 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 33647209 33647209 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 33647209 33647209 single base substitution G A intron_variant ESAD-UK 1 33647881 33647881 single base substitution G A upstream_gene_variant ESAD-UK 1 33649967 33649967 single base substitution T G upstream_gene_variant ESAD-UK 1 33651134 33651134 single base substitution C G upstream_gene_variant ESAD-UK 1 33651754 33651754 single base substitution T A upstream_gene_variant GBM-US 1 33625475 33625475 single base substitution C T exon_variant GBM-US 1 33625475 33625475 single base substitution C T missense_variant R192H 575G>A GBM-US 1 33625475 33625475 single base substitution C T missense_variant R71H 212G>A GBM-US 1 33646782 33646782 single base substitution G C downstream_gene_variant GBM-US 1 33646782 33646782 single base substitution G C exon_variant GBM-US 1 33646782 33646782 single base substitution G C synonymous_variant L84L 252C>G GBM-US 1 33646782 33646782 single base substitution G C upstream_gene_variant KIRC-US 1 33612870 33612870 single base substitution G A missense_variant P325S 973C>T KIRC-US 1 33612870 33612870 single base substitution G A missense_variant P446S 1336C>T KIRC-US 1 33612891 33612891 single base substitution A G missense_variant Y318H 952T>C KIRC-US 1 33612891 33612891 single base substitution A G missense_variant Y439H 1315T>C KIRP-US 1 33625315 33625315 single base substitution C T exon_variant KIRP-US 1 33625315 33625315 single base substitution C T synonymous_variant L124L 372G>A KIRP-US 1 33625315 33625315 single base substitution C T synonymous_variant L245L 735G>A LAML-KR 1 33620444 33620444 single base substitution C T downstream_gene_variant LAML-KR 1 33620444 33620444 single base substitution C T intron_variant LICA-FR 1 33630781 33630781 single base substitution A C intron_variant LINC-JP 1 33613092 33613092 single base substitution C T missense_variant A251T 751G>A LINC-JP 1 33613092 33613092 single base substitution C T missense_variant A372T 1114G>A LINC-JP 1 33615056 33615056 insertion of <=200bp - T intron_variant LINC-JP 1 33639293 33639293 single base substitution T C intron_variant LINC-JP 1 33645459 33645459 single base substitution A T downstream_gene_variant LINC-JP 1 33645459 33645459 single base substitution A T intron_variant LINC-JP 1 33645459 33645459 single base substitution A T upstream_gene_variant LINC-JP 1 33646851 33646851 single base substitution C T downstream_gene_variant LINC-JP 1 33646851 33646851 single base substitution C T exon_variant LINC-JP 1 33646851 33646851 single base substitution C T synonymous_variant A61A 183G>A LINC-JP 1 33646851 33646851 single base substitution C T upstream_gene_variant LINC-JP 1 33648829 33648829 single base substitution G C upstream_gene_variant LIRI-JP 1 33606105 33606112 deletion of <=200bp GCCTGCAG - downstream_gene_variant LIRI-JP 1 33607983 33607983 single base substitution C T downstream_gene_variant LIRI-JP 1 33609270 33609270 single base substitution T C downstream_gene_variant LIRI-JP 1 33609444 33609444 single base substitution A G downstream_gene_variant LIRI-JP 1 33611853 33611853 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33611853 33611853 single base substitution T C downstream_gene_variant LIRI-JP 1 33613676 33613676 single base substitution T G intron_variant LIRI-JP 1 33617219 33617219 single base substitution G A intron_variant LIRI-JP 1 33621144 33621144 single base substitution G A downstream_gene_variant LIRI-JP 1 33621144 33621144 single base substitution G A intron_variant LIRI-JP 1 33622217 33622217 single base substitution C G downstream_gene_variant LIRI-JP 1 33622217 33622217 single base substitution C G intron_variant LIRI-JP 1 33627673 33627673 single base substitution C A intron_variant LIRI-JP 1 33630679 33630679 single base substitution C A intron_variant LIRI-JP 1 33633162 33633162 insertion of <=200bp - T intron_variant LIRI-JP 1 33634003 33634004 deletion of <=200bp CC - intron_variant LIRI-JP 1 33634843 33634843 single base substitution T C intron_variant LIRI-JP 1 33641597 33641597 single base substitution C A intron_variant LIRI-JP 1 33651232 33651232 single base substitution T G upstream_gene_variant LUSC-KR 1 33607410 33607410 single base substitution C T downstream_gene_variant LUSC-KR 1 33608096 33608096 single base substitution G A downstream_gene_variant LUSC-KR 1 33609757 33609757 single base substitution G T downstream_gene_variant LUSC-KR 1 33612366 33612366 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 33617671 33617671 single base substitution T A intron_variant LUSC-KR 1 33623436 33623436 single base substitution C T downstream_gene_variant LUSC-KR 1 33623436 33623436 single base substitution C T intron_variant LUSC-KR 1 33628544 33628544 single base substitution C G intron_variant LUSC-KR 1 33629488 33629488 single base substitution G T intron_variant LUSC-KR 1 33630273 33630273 single base substitution T C intron_variant LUSC-KR 1 33630869 33630869 single base substitution G T intron_variant LUSC-KR 1 33632836 33632836 single base substitution C T intron_variant LUSC-KR 1 33637449 33637449 single base substitution C G intron_variant LUSC-KR 1 33638425 33638425 single base substitution C G intron_variant LUSC-KR 1 33639881 33639881 single base substitution C G intron_variant LUSC-KR 1 33640360 33640360 single base substitution C G intron_variant LUSC-KR 1 33647307 33647307 single base substitution G T intron_variant LUSC-KR 1 33647307 33647307 single base substitution G T upstream_gene_variant LUSC-KR 1 33647543 33647543 single base substitution C A intron_variant LUSC-KR 1 33647543 33647543 single base substitution C A upstream_gene_variant LUSC-KR 1 33647939 33647939 single base substitution G C upstream_gene_variant LUSC-KR 1 33648830 33648830 single base substitution G A upstream_gene_variant LUSC-KR 1 33649816 33649816 single base substitution G T upstream_gene_variant LUSC-KR 1 33650448 33650448 single base substitution C T upstream_gene_variant LUSC-KR 1 33650496 33650496 single base substitution C T upstream_gene_variant LUSC-KR 1 33650939 33650939 single base substitution C A upstream_gene_variant MALY-DE 1 33606044 33606044 single base substitution G A downstream_gene_variant MALY-DE 1 33606895 33606895 single base substitution T G downstream_gene_variant MALY-DE 1 33624010 33624010 single base substitution A C downstream_gene_variant MALY-DE 1 33624010 33624010 single base substitution A C intron_variant MALY-DE 1 33624145 33624145 single base substitution T C downstream_gene_variant MALY-DE 1 33624145 33624145 single base substitution T C intron_variant MALY-DE 1 33624281 33624281 single base substitution C G downstream_gene_variant MALY-DE 1 33624281 33624281 single base substitution C G intron_variant MALY-DE 1 33629071 33629071 single base substitution C G intron_variant MALY-DE 1 33631950 33631950 single base substitution T G intron_variant MALY-DE 1 33638081 33638081 single base substitution G A intron_variant MALY-DE 1 33646746 33646746 single base substitution G C downstream_gene_variant MALY-DE 1 33646746 33646746 single base substitution G C exon_variant MALY-DE 1 33646746 33646746 single base substitution G C missense_variant H96Q 288C>G MALY-DE 1 33646746 33646746 single base substitution G C upstream_gene_variant MALY-DE 1 33651409 33651409 single base substitution T C upstream_gene_variant MELA-AU 1 33606112 33606112 single base substitution G A downstream_gene_variant MELA-AU 1 33606318 33606318 single base substitution C T downstream_gene_variant MELA-AU 1 33607478 33607479 deletion of <=200bp AA - downstream_gene_variant MELA-AU 1 33607878 33607878 single base substitution C A downstream_gene_variant MELA-AU 1 33608598 33608598 single base substitution G A downstream_gene_variant MELA-AU 1 33609207 33609207 single base substitution A C downstream_gene_variant MELA-AU 1 33609399 33609399 single base substitution G A downstream_gene_variant MELA-AU 1 33610456 33610456 single base substitution G A downstream_gene_variant MELA-AU 1 33610502 33610502 single base substitution G T downstream_gene_variant MELA-AU 1 33610661 33610661 single base substitution C T downstream_gene_variant MELA-AU 1 33611314 33611314 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33611314 33611314 single base substitution C T downstream_gene_variant MELA-AU 1 33611629 33611629 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33611629 33611629 single base substitution C T downstream_gene_variant MELA-AU 1 33612223 33612223 single base substitution G T 3_prime_UTR_variant MELA-AU 1 33612223 33612223 single base substitution G T downstream_gene_variant MELA-AU 1 33612698 33612698 single base substitution A T 3_prime_UTR_variant MELA-AU 1 33612951 33612951 single base substitution A C missense_variant F298V 892T>G MELA-AU 1 33612951 33612951 single base substitution A C missense_variant F419V 1255T>G MELA-AU 1 33613341 33613341 single base substitution G A intron_variant MELA-AU 1 33613347 33613347 single base substitution G A intron_variant MELA-AU 1 33614126 33614126 single base substitution G A intron_variant MELA-AU 1 33614165 33614165 single base substitution G A intron_variant MELA-AU 1 33614460 33614460 single base substitution C T intron_variant MELA-AU 1 33615353 33615353 single base substitution G A intron_variant MELA-AU 1 33615681 33615681 single base substitution C T intron_variant MELA-AU 1 33615859 33615859 single base substitution G A intron_variant MELA-AU 1 33616110 33616110 single base substitution G A intron_variant MELA-AU 1 33616290 33616290 single base substitution C T intron_variant MELA-AU 1 33618100 33618100 single base substitution G A intron_variant MELA-AU 1 33618200 33618200 single base substitution G A intron_variant MELA-AU 1 33619894 33619894 single base substitution G A intron_variant MELA-AU 1 33620013 33620013 single base substitution G A intron_variant MELA-AU 1 33620268 33620268 single base substitution G A intron_variant MELA-AU 1 33620348 33620348 single base substitution G A downstream_gene_variant MELA-AU 1 33620348 33620348 single base substitution G A intron_variant MELA-AU 1 33621289 33621289 single base substitution G A downstream_gene_variant MELA-AU 1 33621289 33621289 single base substitution G A intron_variant MELA-AU 1 33621387 33621387 single base substitution C T downstream_gene_variant MELA-AU 1 33621387 33621387 single base substitution C T intron_variant MELA-AU 1 33621556 33621556 single base substitution C T downstream_gene_variant MELA-AU 1 33621556 33621556 single base substitution C T intron_variant MELA-AU 1 33621794 33621794 single base substitution C T downstream_gene_variant MELA-AU 1 33621794 33621794 single base substitution C T intron_variant MELA-AU 1 33621922 33621922 single base substitution C T downstream_gene_variant MELA-AU 1 33621922 33621922 single base substitution C T intron_variant MELA-AU 1 33622307 33622307 single base substitution C T downstream_gene_variant MELA-AU 1 33622307 33622307 single base substitution C T intron_variant MELA-AU 1 33622465 33622465 single base substitution G A downstream_gene_variant MELA-AU 1 33622465 33622465 single base substitution G A intron_variant MELA-AU 1 33622670 33622670 single base substitution T A downstream_gene_variant MELA-AU 1 33622670 33622670 single base substitution T A intron_variant MELA-AU 1 33622788 33622788 single base substitution C A downstream_gene_variant MELA-AU 1 33622788 33622788 single base substitution C A intron_variant MELA-AU 1 33624248 33624248 single base substitution C T downstream_gene_variant MELA-AU 1 33624248 33624248 single base substitution C T intron_variant MELA-AU 1 33624333 33624333 single base substitution G A downstream_gene_variant MELA-AU 1 33624333 33624333 single base substitution G A intron_variant MELA-AU 1 33624994 33624994 single base substitution G A downstream_gene_variant MELA-AU 1 33624994 33624994 single base substitution G A intron_variant MELA-AU 1 33625264 33625264 single base substitution G A downstream_gene_variant MELA-AU 1 33625264 33625264 single base substitution G A intron_variant MELA-AU 1 33625624 33625625 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 33626811 33626811 single base substitution C T intron_variant MELA-AU 1 33627627 33627627 single base substitution A C intron_variant MELA-AU 1 33628053 33628053 single base substitution C T intron_variant MELA-AU 1 33628597 33628597 single base substitution G A intron_variant MELA-AU 1 33628774 33628774 single base substitution G A intron_variant MELA-AU 1 33629113 33629113 single base substitution C G intron_variant MELA-AU 1 33629183 33629183 single base substitution G A intron_variant MELA-AU 1 33629410 33629411 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33629456 33629456 single base substitution G A intron_variant MELA-AU 1 33630800 33630800 single base substitution C T intron_variant MELA-AU 1 33631745 33631745 single base substitution T A intron_variant MELA-AU 1 33632070 33632070 single base substitution G A intron_variant MELA-AU 1 33632181 33632181 single base substitution G A intron_variant MELA-AU 1 33632698 33632698 single base substitution G A intron_variant MELA-AU 1 33633197 33633197 single base substitution G A intron_variant MELA-AU 1 33633612 33633612 single base substitution A T intron_variant MELA-AU 1 33634132 33634132 single base substitution A G intron_variant MELA-AU 1 33634962 33634962 single base substitution G A intron_variant MELA-AU 1 33635397 33635397 single base substitution T C intron_variant MELA-AU 1 33636046 33636046 single base substitution G A intron_variant MELA-AU 1 33636177 33636177 single base substitution G A intron_variant MELA-AU 1 33636243 33636243 single base substitution G A intron_variant MELA-AU 1 33636721 33636722 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33636789 33636789 single base substitution G A intron_variant MELA-AU 1 33636882 33636882 single base substitution G A intron_variant MELA-AU 1 33637831 33637831 single base substitution G A intron_variant MELA-AU 1 33637896 33637896 single base substitution G A intron_variant MELA-AU 1 33637988 33637988 single base substitution G A intron_variant MELA-AU 1 33638182 33638182 single base substitution G A intron_variant MELA-AU 1 33638626 33638626 insertion of <=200bp - CT intron_variant MELA-AU 1 33639486 33639486 single base substitution G A intron_variant MELA-AU 1 33639729 33639729 single base substitution C T intron_variant MELA-AU 1 33640112 33640112 single base substitution C T intron_variant MELA-AU 1 33640329 33640329 single base substitution C T intron_variant MELA-AU 1 33640504 33640504 single base substitution G A intron_variant MELA-AU 1 33640509 33640509 single base substitution T G intron_variant MELA-AU 1 33641601 33641601 single base substitution G A intron_variant MELA-AU 1 33642391 33642391 single base substitution C T downstream_gene_variant MELA-AU 1 33642391 33642391 single base substitution C T intron_variant MELA-AU 1 33642391 33642391 single base substitution C T upstream_gene_variant MELA-AU 1 33642498 33642498 single base substitution C T downstream_gene_variant MELA-AU 1 33642498 33642498 single base substitution C T intron_variant MELA-AU 1 33642498 33642498 single base substitution C T upstream_gene_variant MELA-AU 1 33644552 33644552 single base substitution G A downstream_gene_variant MELA-AU 1 33644552 33644552 single base substitution G A intron_variant MELA-AU 1 33644552 33644552 single base substitution G A upstream_gene_variant MELA-AU 1 33644815 33644815 single base substitution G A downstream_gene_variant MELA-AU 1 33644815 33644815 single base substitution G A intron_variant MELA-AU 1 33644815 33644815 single base substitution G A upstream_gene_variant MELA-AU 1 33644907 33644907 single base substitution G A downstream_gene_variant MELA-AU 1 33644907 33644907 single base substitution G A intron_variant MELA-AU 1 33644907 33644907 single base substitution G A upstream_gene_variant MELA-AU 1 33644958 33644958 single base substitution A G downstream_gene_variant MELA-AU 1 33644958 33644958 single base substitution A G intron_variant MELA-AU 1 33644958 33644958 single base substitution A G upstream_gene_variant MELA-AU 1 33645641 33645641 single base substitution G A downstream_gene_variant MELA-AU 1 33645641 33645641 single base substitution G A intron_variant MELA-AU 1 33645641 33645641 single base substitution G A upstream_gene_variant MELA-AU 1 33646977 33646977 single base substitution C T exon_variant MELA-AU 1 33646977 33646977 single base substitution C T synonymous_variant Q19Q 57G>A MELA-AU 1 33646977 33646977 single base substitution C T upstream_gene_variant MELA-AU 1 33647191 33647191 single base substitution G A 5_prime_UTR_variant MELA-AU 1 33647191 33647191 single base substitution G A intron_variant MELA-AU 1 33647707 33647707 single base substitution C T upstream_gene_variant MELA-AU 1 33647738 33647738 single base substitution G A upstream_gene_variant MELA-AU 1 33647747 33647747 single base substitution G A upstream_gene_variant MELA-AU 1 33647758 33647758 single base substitution G T upstream_gene_variant MELA-AU 1 33648150 33648150 single base substitution A C upstream_gene_variant MELA-AU 1 33648541 33648541 single base substitution G A upstream_gene_variant MELA-AU 1 33648761 33648761 single base substitution G A upstream_gene_variant MELA-AU 1 33648774 33648774 single base substitution G A upstream_gene_variant MELA-AU 1 33649193 33649193 single base substitution C T upstream_gene_variant MELA-AU 1 33649289 33649289 single base substitution G A upstream_gene_variant MELA-AU 1 33649766 33649766 single base substitution G A upstream_gene_variant MELA-AU 1 33649973 33649973 single base substitution C T upstream_gene_variant MELA-AU 1 33650423 33650423 single base substitution C T upstream_gene_variant MELA-AU 1 33650803 33650803 single base substitution C T upstream_gene_variant MELA-AU 1 33651021 33651021 single base substitution C T upstream_gene_variant MELA-AU 1 33651080 33651080 single base substitution C T upstream_gene_variant MELA-AU 1 33651335 33651335 single base substitution G A upstream_gene_variant MELA-AU 1 33651366 33651366 single base substitution G A upstream_gene_variant MELA-AU 1 33651946 33651946 single base substitution C T upstream_gene_variant MELA-AU 1 33652233 33652233 single base substitution C T upstream_gene_variant MELA-AU 1 33652525 33652525 single base substitution G A upstream_gene_variant MELA-AU 1 33652599 33652599 single base substitution G A upstream_gene_variant ORCA-IN 1 33646685 33646685 single base substitution G C downstream_gene_variant ORCA-IN 1 33646685 33646685 single base substitution G C exon_variant ORCA-IN 1 33646685 33646685 single base substitution G C missense_variant P117A 349C>G ORCA-IN 1 33646685 33646685 single base substitution G C upstream_gene_variant ORCA-IN 1 33648767 33648767 single base substitution A C upstream_gene_variant OV-AU 1 33606803 33606803 single base substitution C G downstream_gene_variant OV-AU 1 33609096 33609096 single base substitution C G downstream_gene_variant OV-AU 1 33614016 33614016 single base substitution G T intron_variant OV-AU 1 33614935 33614935 single base substitution A T intron_variant OV-AU 1 33615399 33615399 single base substitution T G intron_variant OV-AU 1 33616889 33616889 single base substitution C T intron_variant OV-AU 1 33617151 33617151 single base substitution C G intron_variant OV-AU 1 33627871 33627871 single base substitution G A intron_variant OV-AU 1 33629360 33629360 single base substitution G C intron_variant OV-AU 1 33644455 33644455 single base substitution T C downstream_gene_variant OV-AU 1 33644455 33644455 single base substitution T C intron_variant OV-AU 1 33644455 33644455 single base substitution T C upstream_gene_variant OV-AU 1 33646261 33646261 single base substitution G C downstream_gene_variant OV-AU 1 33646261 33646261 single base substitution G C intron_variant OV-AU 1 33646261 33646261 single base substitution G C upstream_gene_variant OV-AU 1 33646344 33646344 single base substitution C T downstream_gene_variant OV-AU 1 33646344 33646344 single base substitution C T intron_variant OV-AU 1 33646344 33646344 single base substitution C T upstream_gene_variant OV-AU 1 33649746 33649746 single base substitution C T upstream_gene_variant PACA-AU 1 33615399 33615399 single base substitution T G intron_variant PACA-AU 1 33616923 33616923 single base substitution G A intron_variant PACA-AU 1 33619711 33619711 single base substitution C T intron_variant PACA-AU 1 33621402 33621402 single base substitution T C downstream_gene_variant PACA-AU 1 33621402 33621402 single base substitution T C intron_variant PACA-AU 1 33624420 33624420 single base substitution C G downstream_gene_variant PACA-AU 1 33624420 33624420 single base substitution C G intron_variant PACA-AU 1 33626431 33626431 single base substitution C T intron_variant PACA-AU 1 33630807 33630810 deletion of <=200bp GGAA - intron_variant PACA-AU 1 33635323 33635323 single base substitution A C intron_variant PACA-AU 1 33651209 33651209 single base substitution T C upstream_gene_variant PACA-CA 1 33607316 33607316 single base substitution T G downstream_gene_variant PACA-CA 1 33607691 33607691 single base substitution C T downstream_gene_variant PACA-CA 1 33607692 33607692 single base substitution C A downstream_gene_variant PACA-CA 1 33619400 33619400 single base substitution C T intron_variant PACA-CA 1 33619711 33619711 single base substitution C T intron_variant PACA-CA 1 33623376 33623376 single base substitution G A downstream_gene_variant PACA-CA 1 33623376 33623376 single base substitution G A intron_variant PACA-CA 1 33623791 33623791 single base substitution G A downstream_gene_variant PACA-CA 1 33623791 33623791 single base substitution G A intron_variant PACA-CA 1 33625477 33625477 single base substitution T A exon_variant PACA-CA 1 33625477 33625477 single base substitution T A missense_variant E191D 573A>T PACA-CA 1 33625477 33625477 single base substitution T A missense_variant E70D 210A>T PACA-CA 1 33626951 33626951 single base substitution G A intron_variant PACA-CA 1 33627871 33627871 single base substitution G A intron_variant PACA-CA 1 33629536 33629536 single base substitution C T intron_variant PACA-CA 1 33631081 33631081 single base substitution C T exon_variant PACA-CA 1 33631081 33631081 single base substitution C T synonymous_variant A165A 495G>A PACA-CA 1 33631081 33631081 single base substitution C T synonymous_variant A44A 132G>A PACA-CA 1 33635480 33635480 single base substitution G A intron_variant PACA-CA 1 33635861 33635861 single base substitution G T intron_variant PACA-CA 1 33637901 33637901 single base substitution C T intron_variant PACA-CA 1 33639309 33639309 single base substitution A T intron_variant PACA-CA 1 33642648 33642648 insertion of <=200bp - TG downstream_gene_variant PACA-CA 1 33642648 33642648 insertion of <=200bp - TG intron_variant PACA-CA 1 33642648 33642648 insertion of <=200bp - TG upstream_gene_variant PACA-CA 1 33642658 33642658 insertion of <=200bp - TG downstream_gene_variant PACA-CA 1 33642658 33642658 insertion of <=200bp - TG intron_variant PACA-CA 1 33642658 33642658 insertion of <=200bp - TG upstream_gene_variant PACA-CA 1 33649653 33649653 single base substitution A G upstream_gene_variant PACA-CA 1 33650492 33650492 single base substitution C A upstream_gene_variant PAEN-IT 1 33611044 33611044 single base substitution C A 3_prime_UTR_variant PAEN-IT 1 33611044 33611044 single base substitution C A downstream_gene_variant PBCA-DE 1 33609952 33609952 single base substitution C T downstream_gene_variant PBCA-DE 1 33614527 33614527 single base substitution G A intron_variant PBCA-DE 1 33640073 33640073 single base substitution C T intron_variant PBCA-DE 1 33640794 33640794 deletion of <=200bp G - intron_variant PBCA-DE 1 33642119 33642119 single base substitution C A 5_prime_UTR_variant PBCA-DE 1 33642119 33642119 single base substitution C A downstream_gene_variant PBCA-DE 1 33642119 33642119 single base substitution C A intron_variant PRAD-CA 1 33611462 33611462 single base substitution A T 3_prime_UTR_variant PRAD-CA 1 33611462 33611462 single base substitution A T downstream_gene_variant PRAD-CA 1 33618746 33618746 single base substitution C A intron_variant PRAD-CA 1 33638915 33638915 single base substitution G A intron_variant PRAD-UK 1 33607585 33607585 single base substitution G T downstream_gene_variant PRAD-UK 1 33615060 33615060 single base substitution A T intron_variant PRAD-UK 1 33617453 33617453 single base substitution A T intron_variant PRAD-UK 1 33629061 33629061 single base substitution A G intron_variant PRAD-UK 1 33639309 33639309 single base substitution A T intron_variant PRAD-UK 1 33649141 33649141 single base substitution G T upstream_gene_variant PRAD-US 1 33612961 33612961 single base substitution C A missense_variant K294N 882G>T PRAD-US 1 33612961 33612961 single base substitution C A missense_variant K415N 1245G>T PRAD-US 1 33625513 33625513 single base substitution G A exon_variant PRAD-US 1 33625513 33625513 single base substitution G A synonymous_variant G179G 537C>T PRAD-US 1 33625513 33625513 single base substitution G A synonymous_variant G58G 174C>T READ-US 1 33625475 33625475 single base substitution C T exon_variant READ-US 1 33625475 33625475 single base substitution C T missense_variant R192H 575G>A READ-US 1 33625475 33625475 single base substitution C T missense_variant R71H 212G>A RECA-EU 1 33618114 33618114 single base substitution G T intron_variant RECA-EU 1 33624441 33624441 single base substitution T G downstream_gene_variant RECA-EU 1 33624441 33624441 single base substitution T G intron_variant RECA-EU 1 33645380 33645380 single base substitution T C downstream_gene_variant RECA-EU 1 33645380 33645380 single base substitution T C intron_variant RECA-EU 1 33645380 33645380 single base substitution T C upstream_gene_variant SKCA-BR 1 33606142 33606142 single base substitution G A downstream_gene_variant SKCA-BR 1 33609733 33609743 deletion of <=200bp CTTCTTTTTTT - downstream_gene_variant SKCA-BR 1 33615393 33615393 single base substitution G A intron_variant SKCA-BR 1 33616315 33616315 single base substitution C T intron_variant SKCA-BR 1 33616928 33616928 single base substitution T G intron_variant SKCA-BR 1 33618310 33618310 single base substitution C T intron_variant SKCA-BR 1 33618311 33618311 single base substitution C T intron_variant SKCA-BR 1 33621329 33621329 single base substitution C T downstream_gene_variant SKCA-BR 1 33621329 33621329 single base substitution C T intron_variant SKCA-BR 1 33622282 33622282 single base substitution T C downstream_gene_variant SKCA-BR 1 33622282 33622282 single base substitution T C intron_variant SKCA-BR 1 33624447 33624447 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 33624447 33624447 insertion of <=200bp - CT intron_variant SKCA-BR 1 33625279 33625279 single base substitution T G downstream_gene_variant SKCA-BR 1 33625279 33625279 single base substitution T G intron_variant SKCA-BR 1 33629164 33629164 single base substitution C T intron_variant SKCA-BR 1 33633125 33633125 single base substitution A G intron_variant SKCA-BR 1 33633988 33633988 insertion of <=200bp - CT intron_variant SKCA-BR 1 33638086 33638086 single base substitution G A intron_variant SKCA-BR 1 33639120 33639120 single base substitution A C intron_variant SKCA-BR 1 33640606 33640606 single base substitution G T intron_variant SKCA-BR 1 33642668 33642672 deletion of <=200bp GCACA - downstream_gene_variant SKCA-BR 1 33642668 33642672 deletion of <=200bp GCACA - intron_variant SKCA-BR 1 33642668 33642672 deletion of <=200bp GCACA - upstream_gene_variant SKCA-BR 1 33642737 33642737 single base substitution C T downstream_gene_variant SKCA-BR 1 33642737 33642737 single base substitution C T intron_variant SKCA-BR 1 33642737 33642737 single base substitution C T upstream_gene_variant SKCA-BR 1 33645517 33645517 single base substitution T G downstream_gene_variant SKCA-BR 1 33645517 33645517 single base substitution T G intron_variant SKCA-BR 1 33645517 33645517 single base substitution T G upstream_gene_variant SKCA-BR 1 33646252 33646252 single base substitution C T downstream_gene_variant SKCA-BR 1 33646252 33646252 single base substitution C T intron_variant SKCA-BR 1 33646252 33646252 single base substitution C T upstream_gene_variant SKCA-BR 1 33647591 33647591 single base substitution T C intron_variant SKCA-BR 1 33647591 33647591 single base substitution T C upstream_gene_variant SKCA-BR 1 33649085 33649085 single base substitution C T upstream_gene_variant SKCA-BR 1 33649086 33649086 single base substitution C T upstream_gene_variant SKCA-BR 1 33651367 33651367 single base substitution G A upstream_gene_variant SKCM-US 1 33613051 33613051 single base substitution G A synonymous_variant G264G 792C>T SKCM-US 1 33613051 33613051 single base substitution G A synonymous_variant G385G 1155C>T SKCM-US 1 33623903 33623903 single base substitution G A downstream_gene_variant SKCM-US 1 33623903 33623903 single base substitution G A synonymous_variant G155G 465C>T SKCM-US 1 33623903 33623903 single base substitution G A synonymous_variant G276G 828C>T SKCM-US 1 33625297 33625297 single base substitution C G exon_variant SKCM-US 1 33625297 33625297 single base substitution C G synonymous_variant L130L 390G>C SKCM-US 1 33625297 33625297 single base substitution C G synonymous_variant L251L 753G>C SKCM-US 1 33625345 33625345 single base substitution C T exon_variant SKCM-US 1 33625345 33625345 single base substitution C T synonymous_variant R114R 342G>A SKCM-US 1 33625345 33625345 single base substitution C T synonymous_variant R235R 705G>A SKCM-US 1 33625512 33625512 single base substitution C T exon_variant SKCM-US 1 33625512 33625512 single base substitution C T missense_variant E180K 538G>A SKCM-US 1 33625512 33625512 single base substitution C T missense_variant E59K 175G>A SKCM-US 1 33631164 33631164 single base substitution C T exon_variant SKCM-US 1 33631164 33631164 single base substitution C T missense_variant E138K 412G>A SKCM-US 1 33631164 33631164 single base substitution C T missense_variant E17K 49G>A STAD-US 1 33612784 33612784 single base substitution G A synonymous_variant R353R 1059C>T STAD-US 1 33612784 33612784 single base substitution G A synonymous_variant R474R 1422C>T STAD-US 1 33612785 33612785 single base substitution C T missense_variant R353H 1058G>A STAD-US 1 33612785 33612785 single base substitution C T missense_variant R474H 1421G>A STAD-US 1 33612805 33612805 single base substitution C T synonymous_variant P346P 1038G>A STAD-US 1 33612805 33612805 single base substitution C T synonymous_variant P467P 1401G>A STAD-US 1 33612828 33612828 single base substitution C T missense_variant A339T 1015G>A STAD-US 1 33612828 33612828 single base substitution C T missense_variant A460T 1378G>A STAD-US 1 33613029 33613029 single base substitution C T missense_variant D272N 814G>A STAD-US 1 33613029 33613029 single base substitution C T missense_variant D393N 1177G>A STAD-US 1 33613190 33613190 single base substitution G A missense_variant S218L 653C>T STAD-US 1 33613190 33613190 single base substitution G A missense_variant S339L 1016C>T STAD-US 1 33623854 33623854 single base substitution C A downstream_gene_variant STAD-US 1 33623854 33623854 single base substitution C A missense_variant V172L 514G>T STAD-US 1 33623854 33623854 single base substitution C A missense_variant V293L 877G>T STAD-US 1 33623903 33623903 single base substitution G A downstream_gene_variant STAD-US 1 33623903 33623903 single base substitution G A synonymous_variant G155G 465C>T STAD-US 1 33623903 33623903 single base substitution G A synonymous_variant G276G 828C>T STAD-US 1 33625397 33625397 single base substitution T C exon_variant STAD-US 1 33625397 33625397 single base substitution T C missense_variant Y218C 653A>G STAD-US 1 33625397 33625397 single base substitution T C missense_variant Y97C 290A>G STAD-US 1 33625499 33625499 single base substitution C T exon_variant STAD-US 1 33625499 33625499 single base substitution C T missense_variant R184Q 551G>A STAD-US 1 33625499 33625499 single base substitution C T missense_variant R63Q 188G>A UCEC-US 1 33613098 33613098 single base substitution C T missense_variant E249K 745G>A UCEC-US 1 33613098 33613098 single base substitution C T missense_variant E370K 1108G>A UCEC-US 1 33613209 33613209 single base substitution G A missense_variant R212C 634C>T UCEC-US 1 33613209 33613209 single base substitution G A missense_variant R333C 997C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SC_9099 COSM5569425 c.611C>T p.T204M Substitution - Missense 1:33159838-33159838 - HDC82 COSM4636603 c.571G>A p.E191K Substitution - Missense 1:33159878-33159878 - PCSI_0218_Pa_P_526 COSM3785263 c.573A>T p.E191D Substitution - Missense 1:33159876-33159876 - LP6005409-DNA_A01 COSM5952066 c.809C>T p.P270L Substitution - Missense 1:33158321-33158321 - I2L-P19Ta-Tumor-Biopsy COSM5352962 c.722G>A p.R241Q Substitution - Missense 1:33159727-33159727 - TCGA-EE-A181-06 COSM3488279 c.828C>T p.G276G Substitution - coding silent 1:33158302-33158302 - TCGA-DK-A2I4-01 COSM3789907 c.1030G>T p.E344* Substitution - Nonsense 1:33147575-33147575 - Pat_24_A COSM5846424 c.1202C>T p.T401M Substitution - Missense 1:33147403-33147403 - T3436 COSM4736198 c.1217G>A p.R406Q Substitution - Missense 1:33147388-33147388 - TCGA-F1-6874-01 COSM3488279 c.828C>T p.G276G Substitution - coding silent 1:33158302-33158302 - PCSI_0072_Pa_P_526 COSM3785264 c.495G>A p.A165A Substitution - coding silent 1:33165480-33165480 - TARGET-30-PARDVT COSM1288630 c.1114G>A p.A372T Substitution - Missense 1:33147491-33147491 - OSCC-GB_00650111 COSM4890462 c.349C>G p.P117A Substitution - Missense 1:33181084-33181084 - PT55 COSM5941589 c.934G>A p.D312N Substitution - Missense 1:33147671-33147671 - SC_9081 COSM185916 c.569G>A p.R190H Substitution - Missense 1:33159880-33159880 - T3145 COSM4736201 c.676C>T p.Q226* Substitution - Nonsense 1:33159773-33159773 - BK0003 COSM4185444 c.388G>T p.D130Y Substitution - Missense 1:33181045-33181045 - T2941 COSM4736200 c.987C>A p.D329E Substitution - Missense 1:33147618-33147618 - WSU-HN12 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - CSCC-27-T COSM4488183 c.328C>G p.L110V Substitution - Missense 1:33181105-33181105 - 585208 COSM326761 c.920G>A p.R307H Substitution - Missense 1:33147685-33147685 - CAL27 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - TARGET-20-PANLIZ-04A-02D COSM5487269 c.462C>T p.T154T Substitution - coding silent 1:33165513-33165513 - DLD1 COSM2078668 c.1203G>A p.T401T Substitution - coding silent 1:33147402-33147402 - TCGA-EJ-7782-01 COSM3782464 c.1245G>T p.K415N Substitution - Missense 1:33147360-33147360 - TCGA-BR-7707-01 COSM4031583 c.1016C>T p.S339L Substitution - Missense 1:33147589-33147589 - sysucc-1370T COSM5470160 c.1168G>A p.V390M Substitution - Missense 1:33147437-33147437 - GC_353T-GC_353N COSM4773345 c.244G>T p.A82S Substitution - Missense 1:33181189-33181189 - HN_63115 COSM129907 c.118G>A p.V40M Substitution - Missense 1:33181315-33181315 - PCSI_0072_Pa_P COSM3785264 c.495G>A p.A165A Substitution - coding silent 1:33165480-33165480 - HCC33 COSM1602232 c.183G>A p.A61A Substitution - coding silent 1:33181250-33181250 - 2492729 COSM5726325 c.802G>A p.D268N Substitution - Missense 1:33158328-33158328 - TCGA-BR-4361-01 COSM4031578 c.1422C>T p.R474R Substitution - coding silent 1:33147183-33147183 - TCGA-B8-4151-01 COSM464460 c.1336C>T p.P446S Substitution - Missense 1:33147269-33147269 - TCGA-EE-A3J7-06 COSM3865352 c.1155C>T p.G385G Substitution - coding silent 1:33147450-33147450 - TCGA-BR-8363-01 COSM4031580 c.1401G>A p.P467P Substitution - coding silent 1:33147204-33147204 - ESCC_151 COSM5645088 c.1150C>T p.R384C Substitution - Missense 1:33147455-33147455 - MO_1012 COSM5565963 c.1228C>T p.R410W Substitution - Missense 1:33147377-33147377 - HCT-15 COSM1667361 c.1148G>T p.S383I Substitution - Missense 1:33147457-33147457 - T3090 COSM4736203 c.248T>C p.I83T Substitution - Missense 1:33181185-33181185 - TCGA-BR-7707-01 COSM4031585 c.653A>G p.Y218C Substitution - Missense 1:33159796-33159796 - CHEWS008 COSM4577240 c.1324C>T p.R442C Substitution - Missense 1:33147281-33147281 - T3262 COSM4736199 c.1195G>A p.A399T Substitution - Missense 1:33147410-33147410 - PTC-28C COSM3751148 c.84T>C p.H28H Substitution - coding silent 1:33181349-33181349 - TCGA-KV-A6GD-01 COSM3984987 c.735G>A p.L245L Substitution - coding silent 1:33159714-33159714 - TCGA-EE-A29D-06 COSM3488282 c.412G>A p.E138K Substitution - Missense 1:33165563-33165563 - TCGA-BR-6566-01 COSM4031584 c.877G>T p.V293L Substitution - Missense 1:33158253-33158253 - TCGA-AZ-6599-01 COSM1341897 c.1325G>A p.R442H Substitution - Missense 1:33147280-33147280 - HCT15 COSM2078668 c.1203G>A p.T401T Substitution - coding silent 1:33147402-33147402 - HOP-62 COSM1683127 c.1247delT p.V416fs*>60 Deletion - Frameshift 1:33147358-33147358 - TCGA-AA-A010-01 COSM285957 c.667C>T p.R223C Substitution - Missense 1:33159782-33159782 - TCGA-BS-A0TI-01 COSM908409 c.469C>T p.L157L Substitution - coding silent 1:33165506-33165506 - HCT8 COSM2078668 c.1203G>A p.T401T Substitution - coding silent 1:33147402-33147402 - TCGA-AA-3697-01 COSM3751148 c.84T>C p.H28H Substitution - coding silent 1:33181349-33181349 - TCGA-06-5408-01 COSM3400690 c.575G>A p.R192H Substitution - Missense 1:33159874-33159874 - 587278 COSM1230381 c.1073C>T p.A358V Substitution - Missense 1:33147532-33147532 - LUAD-S01341 COSM396734 c.500C>T p.T167I Substitution - Missense 1:33165475-33165475 - TCGA-EJ-7782-01 COSM3782465 c.537C>T p.G179G Substitution - coding silent 1:33159912-33159912 - YULAN COSM1687350 c.874C>T p.P292S Substitution - Missense 1:33158256-33158256 - Gp5D COSM4629108 c.194G>A p.S65N Substitution - Missense 1:33181239-33181239 - CHC322T COSM3746939 c.504+3G>T p.? Unknown 1:33165468-33165468 - TCGA-JW-A5VL-01 COSM4847000 c.1167C>T p.I389I Substitution - coding silent 1:33147438-33147438 - HCC33T COSM1602232 c.183G>A p.A61A Substitution - coding silent 1:33181250-33181250 - BN24T COSM1288630 c.1114G>A p.A372T Substitution - Missense 1:33147491-33147491 - TCGA-HU-8602-01 COSM4031582 c.1177G>A p.D393N Substitution - Missense 1:33147428-33147428 - SH-1641 COSM5019463 c.560G>A p.R187Q Substitution - Missense 1:33159889-33159889 - TCGA-AP-A051-01 COSM908407 c.997C>T p.R333C Substitution - Missense 1:33147608-33147608 - BK0006 COSM4185546 c.939C>A p.D313E Substitution - Missense 1:33147666-33147666 - Pat_24_A COSM2078680 c.634G>A p.E212K Substitution - Missense 1:33159815-33159815 - SCC-25 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - 93VU147T COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - HGPIN25-1 COSM5415563 c.998G>A p.R333H Substitution - Missense 1:33147607-33147607 - LUAD-S00488 COSM395169 c.150C>T p.C50C Substitution - coding silent 1:33181283-33181283 - B17-Tumor COSM253868 c.280C>A p.Q94K Substitution - Missense 1:33181153-33181153 - TCGA-EI-6881-01 COSM3400690 c.575G>A p.R192H Substitution - Missense 1:33159874-33159874 - TCGA-CG-4462-01 COSM4031579 c.1421G>A p.R474H Substitution - Missense 1:33147184-33147184 - T3090 COSM2078671 c.1048G>A p.V350I Substitution - Missense 1:33147557-33147557 - SNU-C2B COSM4615232 c.775delA p.I259fs*39 Deletion - Frameshift 1:33158355-33158355 - DLD1 COSM4622818 c.959G>T p.G320V Substitution - Missense 1:33147646-33147646 - DLD1 COSM1667361 c.1148G>T p.S383I Substitution - Missense 1:33147457-33147457 - HCT15 COSM1667361 c.1148G>T p.S383I Substitution - Missense 1:33147457-33147457 - TCGA-EE-A182-06 COSM3488281 c.705G>A p.R235R Substitution - coding silent 1:33159744-33159744 - SNU-C2B COSM2078681 c.606G>A p.A202A Substitution - coding silent 1:33159843-33159843 - TCGA-AZ-4315-01 COSM1341898 c.932C>T p.S311L Substitution - Missense 1:33147673-33147673 - NOKSI COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - BICR_22 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - TCGA-CJ-5677-01 COSM464461 c.1315T>C p.Y439H Substitution - Missense 1:33147290-33147290 - 19 COSM5745609 c.568C>T p.R190C Substitution - Missense 1:33159881-33159881 - WSU-HN13 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - sysucc-1397T COSM5473464 c.1047C>T p.G349G Substitution - coding silent 1:33147558-33147558 - TCGA-14-1829-01 COSM3400691 c.252C>G p.L84L Substitution - coding silent 1:33181181-33181181 - YUFERY COSM5380684 c.534C>T p.I178I Substitution - coding silent 1:33159915-33159915 - UM-SCC-17B COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - CAL33 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - Au3 COSM5602474 c.755C>T p.S252F Substitution - Missense 1:33159694-33159694 - TCGA-BF-A3DM-01 COSM3865353 c.538G>A p.E180K Substitution - Missense 1:33159911-33159911 - TCGA-F1-6177-01 COSM4031581 c.1378G>A p.A460T Substitution - Missense 1:33147227-33147227 - TCGA-B5-A0K6-01 COSM908408 c.957C>T p.Y319Y Substitution - coding silent 1:33147648-33147648 - TCGA-BS-A0TI-01 COSM908410 c.468G>T p.A156A Substitution - coding silent 1:33165507-33165507 - TCGA-AA-3663-01 COSM3751148 c.84T>C p.H28H Substitution - coding silent 1:33181349-33181349 - B17 COSM253868 c.280C>A p.Q94K Substitution - Missense 1:33181153-33181153 - Pat_01_B COSM5846425 c.617G>A p.R206H Substitution - Missense 1:33159832-33159832 - TCGA-B5-A11N-01 COSM908406 c.1108G>A p.E370K Substitution - Missense 1:33147497-33147497 - I2L-P19Tb-Tumor-Biopsy COSM5353027 c.1193G>A p.S398N Substitution - Missense 1:33147412-33147412 - T3152 COSM4736202 c.668G>A p.R223H Substitution - Missense 1:33159781-33159781 - TCGA-CD-8536-01 COSM4031586 c.551G>A p.R184Q Substitution - Missense 1:33159898-33159898 - PTC-7C COSM3751148 c.84T>C p.H28H Substitution - coding silent 1:33181349-33181349 - TCGA-G2-A2EL-01 COSM1296306 c.51C>G p.I17M Substitution - Missense 1:33181382-33181382 - TCGA-D3-A1Q4-06 COSM3488280 c.753G>C p.L251L Substitution - coding silent 1:33159696-33159696 - WSU-HN8 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - SCC-9 COSM4590628 c.1115C>A p.A372E Substitution - Missense 1:33147490-33147490 - I2L-P19Tb-Tumor-Organoid COSM5353027 c.1193G>A p.S398N Substitution - Missense 1:33147412-33147412 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655996;Hs.655997;Hs.656001;Hs.656002;Hs.656004;Hs.656005;Hs.656006 1p35.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y439H c.1315T>C 1 33612891 RCCC C A IntronicSNV . c.408+4507G>T 1 33642119 MB C A Nonsense p.E344* c.1030G>T 1 33613176 BLCA C G Synonymous p.L251L c.753G>C 1 33625297 CM C T Missense p.A372T c.1114G>A 1 33613092 NB C T Missense p.A460T c.1378G>A 1 33612828 STAD C T Missense p.E180K c.538G>A 1 33625512 CM C T Missense p.R192H c.575G>A 1 33625475 GBM C T Missense p.R307H c.920G>A 1 33613286 SCLC C T Missense p.R474H c.1421G>A 1 33612785 STAD C T Missense p.V40M c.118G>A 1 33646916 HNSC C T Nonsense p.W283* c.849G>A 1 33623882 CM C T Synonymous p.R235R c.705G>A 1 33625345 CM G A Missense p.P446S c.1336C>T 1 33612870 RCCC G A Synonymous p.G276G c.828C>T 1 33623903 CM G A Synonymous p.G276G c.828C>T 1 33623903 STAD G A Synonymous p.G349G c.1047C>T 1 33613159 STAD G A Synonymous p.G385G c.1155C>T 1 33613051 CM G A Synonymous p.S252S c.756C>T 1 33625294 HNSC G C Missense p.I17M c.51C>G 1 33646983 BLCA G C Synonymous p.L84L c.252C>G 1 33646782 GBM T C Missense p.D421G c.1262A>G 1 33612944 COREAD