Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 96932160 96932160 + 5'Flank SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr2:96932160G>A BLCA 2 96933152 96933152 + 5'Flank SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr2:96933152C>T BLCA 2 96934351 96934351 + 5'Flank SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:96934351C>T BLCA 2 96936853 96936853 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr2:96936853C>T c.784C>T c.(784-786)Cag>Tag p.Q262* BLCA 2 96936943 96936943 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr2:96936943T>G c.874T>G c.(874-876)Ttc>Gtc p.F292V BRCA 2 96933656 96933657 + 5'Flank INS - - G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 g.chr2:96933656_96933657insG BRCA 2 96933659 96933660 + 5'Flank INS - - CC TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 g.chr2:96933659_96933660insCC BRCA 2 96934216 96934216 + 5'Flank SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:96934216G>C BRCA 2 96936858 96936858 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr2:96936858G>A c.789G>A c.(787-789)ctG>ctA p.L263L CHOL 2 96933103 96933103 + 5'Flank SNP C C A TCGA-ZH-A8Y8-01A-51D-A417-09 TCGA-ZH-A8Y8-10A-01D-A41A-09 g.chr2:96933103C>A COAD 2 96936924 96936924 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:96936924G>A c.855G>A c.(853-855)tcG>tcA p.S285S COADREAD 2 96936924 96936924 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:96936924G>A c.855G>A c.(853-855)tcG>tcA p.S285S ESCA 2 96934194 96934194 + 5'Flank SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr2:96934194G>T ESCA 2 96934312 96934312 + 5'Flank SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr2:96934312G>C ESCA 2 96937046 96937046 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:96937046G>T c.977G>T c.(976-978)gGg>gTg p.G326V HNSC 2 96933414 96933414 + 5'Flank SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr2:96933414G>A HNSC 2 96933588 96933588 + 5'Flank SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr2:96933588G>A HNSC 2 96936884 96936884 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr2:96936884G>T c.815G>T c.(814-816)gGg>gTg p.G272V LUAD 2 96932194 96932194 + 5'Flank SNP G G T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr2:96932194G>T LUAD 2 96933113 96933113 + 5'Flank SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr2:96933113G>T LUAD 2 96933114 96933114 + 5'Flank SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr2:96933114G>T LUAD 2 96933137 96933137 + 5'Flank SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 g.chr2:96933137G>T LUAD 2 96934240 96934240 + 5'Flank SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr2:96934240G>A LUAD 2 96936996 96936996 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr2:96936996G>T c.927G>T c.(925-927)gtG>gtT p.V309V PAAD 2 96932184 96932184 + 5'Flank SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:96932184C>A PAAD 2 96933201 96933201 + 5'Flank SNP C C G TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr2:96933201C>G SKCM 2 96933387 96933387 + 5'Flank SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:96933387G>A SKCM 2 96934294 96934294 + 5'Flank SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr2:96934294G>C SKCM 2 96936907 96936907 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr2:96936907C>T c.838C>T c.(838-840)Cag>Tag p.Q280* SKCM 2 96937022 96937022 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr2:96937022T>C c.953T>C c.(952-954)cTa>cCa p.L318P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 96934238 96934238 single base substitution G A downstream_gene_variant ALL-US 2 96934238 96934238 single base substitution G A exon_variant ALL-US 2 96934238 96934238 single base substitution G A missense_variant R178Q 533G>A BLCA-CN 2 96944019 96944019 single base substitution C T downstream_gene_variant BLCA-US 2 96932160 96932160 single base substitution G A exon_variant BLCA-US 2 96932160 96932160 single base substitution G A stop_gained W24* 72G>A BLCA-US 2 96933152 96933152 single base substitution C T exon_variant BLCA-US 2 96933152 96933152 single base substitution C T intron_variant BLCA-US 2 96933152 96933152 single base substitution C T missense_variant S78F 233C>T BLCA-US 2 96943981 96943981 single base substitution C G downstream_gene_variant BRCA-EU 2 96928548 96928548 single base substitution T C upstream_gene_variant BRCA-EU 2 96929079 96929079 single base substitution G A upstream_gene_variant BRCA-EU 2 96930109 96930109 single base substitution C G upstream_gene_variant BRCA-EU 2 96930170 96930170 single base substitution G C upstream_gene_variant BRCA-EU 2 96930174 96930174 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 96932448 96932448 single base substitution G C intron_variant BRCA-EU 2 96933284 96933284 single base substitution G A intron_variant BRCA-EU 2 96933297 96933297 single base substitution T G intron_variant BRCA-EU 2 96935375 96935375 single base substitution G C downstream_gene_variant BRCA-EU 2 96935375 96935375 single base substitution G C intron_variant BRCA-EU 2 96935554 96935554 single base substitution T G downstream_gene_variant BRCA-EU 2 96935554 96935554 single base substitution T G intron_variant BRCA-EU 2 96935557 96935557 single base substitution T G downstream_gene_variant BRCA-EU 2 96935557 96935557 single base substitution T G intron_variant BRCA-EU 2 96936255 96936255 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 96936255 96936255 insertion of <=200bp - T intron_variant BRCA-EU 2 96936564 96936564 single base substitution A C downstream_gene_variant BRCA-EU 2 96936564 96936564 single base substitution A C intron_variant BRCA-EU 2 96936957 96936957 single base substitution C G downstream_gene_variant BRCA-EU 2 96936957 96936957 single base substitution C G exon_variant BRCA-EU 2 96936957 96936957 single base substitution C G synonymous_variant A296A 888C>G BRCA-EU 2 96937385 96937385 single base substitution A G downstream_gene_variant BRCA-EU 2 96937385 96937385 single base substitution A G exon_variant BRCA-EU 2 96937701 96937701 single base substitution G C downstream_gene_variant BRCA-EU 2 96937701 96937701 single base substitution G C exon_variant BRCA-EU 2 96937745 96937745 single base substitution G C downstream_gene_variant BRCA-EU 2 96937745 96937745 single base substitution G C exon_variant BRCA-EU 2 96938106 96938106 single base substitution C T downstream_gene_variant BRCA-EU 2 96938106 96938106 single base substitution C T exon_variant BRCA-EU 2 96938367 96938367 single base substitution G C downstream_gene_variant BRCA-EU 2 96938367 96938367 single base substitution G C exon_variant BRCA-EU 2 96941242 96941242 single base substitution C G downstream_gene_variant BRCA-EU 2 96942060 96942060 single base substitution C G downstream_gene_variant BRCA-EU 2 96942192 96942192 single base substitution C T downstream_gene_variant BRCA-FR 2 96933284 96933284 single base substitution G A intron_variant BRCA-FR 2 96935554 96935554 single base substitution T G downstream_gene_variant BRCA-FR 2 96935554 96935554 single base substitution T G intron_variant BRCA-KR 2 96934317 96934317 single base substitution G A downstream_gene_variant BRCA-KR 2 96934317 96934317 single base substitution G A exon_variant BRCA-KR 2 96934317 96934317 single base substitution G A synonymous_variant P204P 612G>A BRCA-UK 2 96933683 96933683 single base substitution C G downstream_gene_variant BRCA-UK 2 96933683 96933683 single base substitution C G exon_variant BRCA-UK 2 96933683 96933683 single base substitution C G intron_variant BRCA-UK 2 96934185 96934185 single base substitution C G downstream_gene_variant BRCA-UK 2 96934185 96934185 single base substitution C G intron_variant BRCA-US 2 96933656 96933656 insertion of <=200bp - G downstream_gene_variant BRCA-US 2 96933656 96933656 insertion of <=200bp - G exon_variant BRCA-US 2 96933656 96933656 insertion of <=200bp - G frameshift_variant S161R? BRCA-US 2 96933659 96933659 insertion of <=200bp - CC downstream_gene_variant BRCA-US 2 96933659 96933659 insertion of <=200bp - CC exon_variant BRCA-US 2 96933659 96933659 insertion of <=200bp - CC frameshift_variant Q162H? BRCA-US 2 96934216 96934216 single base substitution G C downstream_gene_variant BRCA-US 2 96934216 96934216 single base substitution G C exon_variant BRCA-US 2 96934216 96934216 single base substitution G C missense_variant D171H 511G>C BRCA-US 2 96936858 96936858 single base substitution G A downstream_gene_variant BRCA-US 2 96936858 96936858 single base substitution G A exon_variant BRCA-US 2 96936858 96936858 single base substitution G A synonymous_variant L263L 789G>A BRCA-US 2 96943289 96943289 single base substitution A G downstream_gene_variant BTCA-JP 2 96932294 96932294 single base substitution C T intron_variant BTCA-JP 2 96942523 96942523 single base substitution T A downstream_gene_variant BTCA-JP 2 96942524 96942524 single base substitution G A downstream_gene_variant CESC-US 2 96940773 96940773 single base substitution C G downstream_gene_variant COAD-US 2 96932117 96932117 single base substitution G A exon_variant COAD-US 2 96932117 96932117 single base substitution G A missense_variant R10H 29G>A COAD-US 2 96936924 96936924 single base substitution G A downstream_gene_variant COAD-US 2 96936924 96936924 single base substitution G A exon_variant COAD-US 2 96936924 96936924 single base substitution G A synonymous_variant S285S 855G>A COAD-US 2 96942933 96942933 single base substitution C T downstream_gene_variant COAD-US 2 96943312 96943312 single base substitution A C downstream_gene_variant COCA-CN 2 96937130 96937130 single base substitution C T 3_prime_UTR_variant COCA-CN 2 96937130 96937130 single base substitution C T downstream_gene_variant COCA-CN 2 96937130 96937130 single base substitution C T exon_variant COCA-CN 2 96942555 96942555 single base substitution C A downstream_gene_variant COCA-CN 2 96942956 96942956 single base substitution G T downstream_gene_variant COCA-CN 2 96943614 96943614 single base substitution C T downstream_gene_variant COCA-CN 2 96944069 96944069 single base substitution T G downstream_gene_variant EOPC-DE 2 96933717 96933717 single base substitution C T downstream_gene_variant EOPC-DE 2 96933717 96933717 single base substitution C T exon_variant EOPC-DE 2 96933717 96933717 single base substitution C T intron_variant ESAD-UK 2 96927606 96927606 single base substitution A G upstream_gene_variant ESAD-UK 2 96927922 96927922 single base substitution G A upstream_gene_variant ESAD-UK 2 96930446 96930446 single base substitution C T upstream_gene_variant ESAD-UK 2 96935368 96935368 single base substitution C T downstream_gene_variant ESAD-UK 2 96935368 96935368 single base substitution C T intron_variant ESAD-UK 2 96938347 96938347 single base substitution G A downstream_gene_variant ESAD-UK 2 96938347 96938347 single base substitution G A exon_variant ESAD-UK 2 96939679 96939679 single base substitution G A downstream_gene_variant ESAD-UK 2 96941034 96941034 single base substitution G C downstream_gene_variant ESAD-UK 2 96943998 96943998 single base substitution G T downstream_gene_variant ESCA-CN 2 96942879 96942879 single base substitution C G downstream_gene_variant GACA-CN 2 96934388 96934388 single base substitution A G downstream_gene_variant GACA-CN 2 96934388 96934388 single base substitution A G exon_variant GACA-CN 2 96934388 96934388 single base substitution A G missense_variant N228S 683A>G LAML-KR 2 96943473 96943473 single base substitution T C downstream_gene_variant LICA-CN 2 96933153 96933153 single base substitution T A exon_variant LICA-CN 2 96933153 96933153 single base substitution T A intron_variant LICA-CN 2 96933153 96933153 single base substitution T A synonymous_variant S78S 234T>A LICA-FR 2 96936942 96936942 single base substitution C T downstream_gene_variant LICA-FR 2 96936942 96936942 single base substitution C T exon_variant LICA-FR 2 96936942 96936942 single base substitution C T synonymous_variant T291T 873C>T LICA-FR 2 96943101 96943101 single base substitution A T downstream_gene_variant LINC-JP 2 96928562 96928562 single base substitution A C upstream_gene_variant LINC-JP 2 96932867 96932867 single base substitution C T intron_variant LINC-JP 2 96942645 96942645 single base substitution C T downstream_gene_variant LINC-JP 2 96943012 96943012 single base substitution G T downstream_gene_variant LIRI-JP 2 96927733 96927733 single base substitution T A upstream_gene_variant LIRI-JP 2 96928467 96928467 single base substitution C G upstream_gene_variant LIRI-JP 2 96929730 96929730 single base substitution G C upstream_gene_variant LIRI-JP 2 96930332 96930332 single base substitution G A upstream_gene_variant LIRI-JP 2 96933364 96933377 deletion of <=200bp GTGTAACCACTCTC - frameshift_variant CVTTL97 LIRI-JP 2 96933364 96933377 deletion of <=200bp GTGTAACCACTCTC - splice_region_variant LIRI-JP 2 96937696 96937696 single base substitution G A downstream_gene_variant LIRI-JP 2 96937696 96937696 single base substitution G A exon_variant LIRI-JP 2 96939893 96939893 single base substitution A C downstream_gene_variant LIRI-JP 2 96940211 96940211 single base substitution C G downstream_gene_variant LIRI-JP 2 96941637 96941637 single base substitution G C downstream_gene_variant LUSC-KR 2 96929431 96929431 single base substitution C G upstream_gene_variant LUSC-KR 2 96931986 96931986 single base substitution G C 5_prime_UTR_variant LUSC-KR 2 96931986 96931986 single base substitution G C exon_variant MALY-DE 2 96928220 96928220 single base substitution G A upstream_gene_variant MALY-DE 2 96941316 96941323 deletion of <=200bp CCAAGGTA - downstream_gene_variant MALY-DE 2 96941320 96941320 single base substitution G T downstream_gene_variant MALY-DE 2 96942275 96942275 single base substitution T G downstream_gene_variant MELA-AU 2 96928718 96928719 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 96929189 96929189 single base substitution C T upstream_gene_variant MELA-AU 2 96929263 96929263 single base substitution G A upstream_gene_variant MELA-AU 2 96930049 96930049 single base substitution G A upstream_gene_variant MELA-AU 2 96931882 96931882 single base substitution G A 5_prime_UTR_variant MELA-AU 2 96931882 96931882 single base substitution G A upstream_gene_variant MELA-AU 2 96931943 96931943 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 96931943 96931943 single base substitution C T exon_variant MELA-AU 2 96931943 96931943 single base substitution C T upstream_gene_variant MELA-AU 2 96931966 96931966 single base substitution G A 5_prime_UTR_variant MELA-AU 2 96931966 96931966 single base substitution G A exon_variant MELA-AU 2 96931966 96931966 single base substitution G A upstream_gene_variant MELA-AU 2 96932014 96932014 single base substitution C T 5_prime_UTR_variant MELA-AU 2 96932014 96932014 single base substitution C T exon_variant MELA-AU 2 96933472 96933472 single base substitution A G downstream_gene_variant MELA-AU 2 96933472 96933472 single base substitution A G exon_variant MELA-AU 2 96933472 96933472 single base substitution A G missense_variant E133G 398A>G MELA-AU 2 96933472 96933472 single base substitution A G splice_region_variant MELA-AU 2 96933487 96933487 single base substitution C T downstream_gene_variant MELA-AU 2 96933487 96933487 single base substitution C T exon_variant MELA-AU 2 96933487 96933487 single base substitution C T intron_variant MELA-AU 2 96934819 96934819 single base substitution C T downstream_gene_variant MELA-AU 2 96934819 96934819 single base substitution C T exon_variant MELA-AU 2 96934819 96934819 single base substitution C T intron_variant MELA-AU 2 96935219 96935219 single base substitution C T downstream_gene_variant MELA-AU 2 96935219 96935219 single base substitution C T intron_variant MELA-AU 2 96935368 96935368 single base substitution C T downstream_gene_variant MELA-AU 2 96935368 96935368 single base substitution C T intron_variant MELA-AU 2 96936045 96936045 single base substitution C T downstream_gene_variant MELA-AU 2 96936045 96936045 single base substitution C T intron_variant MELA-AU 2 96936147 96936147 single base substitution G A downstream_gene_variant MELA-AU 2 96936147 96936147 single base substitution G A intron_variant MELA-AU 2 96936188 96936188 single base substitution C T downstream_gene_variant MELA-AU 2 96936188 96936188 single base substitution C T intron_variant MELA-AU 2 96936398 96936398 single base substitution A T downstream_gene_variant MELA-AU 2 96936398 96936398 single base substitution A T intron_variant MELA-AU 2 96937248 96937248 single base substitution C T 3_prime_UTR_variant MELA-AU 2 96937248 96937248 single base substitution C T downstream_gene_variant MELA-AU 2 96937248 96937248 single base substitution C T exon_variant MELA-AU 2 96937491 96937491 single base substitution C T downstream_gene_variant MELA-AU 2 96937491 96937491 single base substitution C T exon_variant MELA-AU 2 96937527 96937527 single base substitution C T downstream_gene_variant MELA-AU 2 96937527 96937527 single base substitution C T exon_variant MELA-AU 2 96938904 96938904 single base substitution A C downstream_gene_variant MELA-AU 2 96938904 96938904 single base substitution A C exon_variant MELA-AU 2 96939228 96939228 single base substitution C T downstream_gene_variant MELA-AU 2 96939295 96939295 single base substitution G A downstream_gene_variant MELA-AU 2 96939708 96939708 single base substitution A T downstream_gene_variant MELA-AU 2 96940080 96940080 single base substitution T G downstream_gene_variant MELA-AU 2 96940579 96940579 single base substitution G T downstream_gene_variant MELA-AU 2 96941563 96941563 single base substitution A G downstream_gene_variant MELA-AU 2 96941971 96941971 single base substitution T A downstream_gene_variant MELA-AU 2 96943147 96943147 single base substitution G A downstream_gene_variant MELA-AU 2 96943163 96943163 single base substitution G A downstream_gene_variant MELA-AU 2 96943462 96943462 single base substitution G A downstream_gene_variant MELA-AU 2 96943874 96943874 single base substitution G A downstream_gene_variant ORCA-IN 2 96933091 96933091 single base substitution G A exon_variant ORCA-IN 2 96933091 96933091 single base substitution G A intron_variant ORCA-IN 2 96933091 96933091 single base substitution G A missense_variant E58K 172G>A OV-AU 2 96929231 96929231 single base substitution G T upstream_gene_variant OV-AU 2 96931971 96931971 single base substitution C T 5_prime_UTR_variant OV-AU 2 96931971 96931971 single base substitution C T exon_variant OV-AU 2 96931971 96931971 single base substitution C T upstream_gene_variant OV-AU 2 96933089 96933089 single base substitution C G exon_variant OV-AU 2 96933089 96933089 single base substitution C G intron_variant OV-AU 2 96933089 96933089 single base substitution C G missense_variant S57C 170C>G OV-AU 2 96936310 96936310 single base substitution G A downstream_gene_variant OV-AU 2 96936310 96936310 single base substitution G A intron_variant OV-AU 2 96938298 96938298 single base substitution C G downstream_gene_variant OV-AU 2 96938298 96938298 single base substitution C G exon_variant OV-AU 2 96939912 96939912 single base substitution C A downstream_gene_variant PACA-AU 2 96933284 96933284 single base substitution G A intron_variant PACA-AU 2 96936894 96936894 single base substitution G A downstream_gene_variant PACA-AU 2 96936894 96936894 single base substitution G A exon_variant PACA-AU 2 96936894 96936894 single base substitution G A synonymous_variant A275A 825G>A PACA-CA 2 96927752 96927752 single base substitution A C upstream_gene_variant PACA-CA 2 96928383 96928383 single base substitution G C upstream_gene_variant PACA-CA 2 96932346 96932346 single base substitution A G intron_variant PACA-CA 2 96941048 96941048 single base substitution T G downstream_gene_variant PACA-CA 2 96941477 96941477 single base substitution A G downstream_gene_variant PBCA-DE 2 96934683 96934683 single base substitution T G downstream_gene_variant PBCA-DE 2 96934683 96934683 single base substitution T G exon_variant PBCA-DE 2 96934683 96934683 single base substitution T G intron_variant PRAD-CA 2 96944075 96944075 single base substitution T C downstream_gene_variant PRAD-UK 2 96931744 96931744 single base substitution C T upstream_gene_variant RECA-EU 2 96941430 96941430 single base substitution G A downstream_gene_variant RECA-EU 2 96942837 96942837 single base substitution T G downstream_gene_variant RECA-EU 2 96943378 96943378 single base substitution C G downstream_gene_variant SKCA-BR 2 96928000 96928000 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 2 96928562 96928562 single base substitution A C upstream_gene_variant SKCA-BR 2 96929758 96929758 single base substitution G A upstream_gene_variant SKCA-BR 2 96930151 96930151 single base substitution G A upstream_gene_variant SKCA-BR 2 96931848 96931848 single base substitution C T upstream_gene_variant SKCA-BR 2 96933518 96933518 single base substitution C T downstream_gene_variant SKCA-BR 2 96933518 96933518 single base substitution C T exon_variant SKCA-BR 2 96933518 96933518 single base substitution C T intron_variant SKCA-BR 2 96934683 96934683 single base substitution T G downstream_gene_variant SKCA-BR 2 96934683 96934683 single base substitution T G exon_variant SKCA-BR 2 96934683 96934683 single base substitution T G intron_variant SKCA-BR 2 96934686 96934686 single base substitution T G downstream_gene_variant SKCA-BR 2 96934686 96934686 single base substitution T G exon_variant SKCA-BR 2 96934686 96934686 single base substitution T G intron_variant SKCA-BR 2 96935569 96935569 single base substitution G A downstream_gene_variant SKCA-BR 2 96935569 96935569 single base substitution G A intron_variant SKCA-BR 2 96935693 96935693 single base substitution T G downstream_gene_variant SKCA-BR 2 96935693 96935693 single base substitution T G intron_variant SKCA-BR 2 96937874 96937874 single base substitution A G downstream_gene_variant SKCA-BR 2 96937874 96937874 single base substitution A G exon_variant SKCA-BR 2 96938342 96938342 single base substitution A G downstream_gene_variant SKCA-BR 2 96938342 96938342 single base substitution A G exon_variant SKCA-BR 2 96941340 96941340 single base substitution A C downstream_gene_variant SKCA-BR 2 96942484 96942484 single base substitution G A downstream_gene_variant SKCM-US 2 96934294 96934294 single base substitution G C downstream_gene_variant SKCM-US 2 96934294 96934294 single base substitution G C exon_variant SKCM-US 2 96934294 96934294 single base substitution G C missense_variant V197L 589G>C SKCM-US 2 96936907 96936907 single base substitution C T downstream_gene_variant SKCM-US 2 96936907 96936907 single base substitution C T exon_variant SKCM-US 2 96936907 96936907 single base substitution C T stop_gained Q280* 838C>T SKCM-US 2 96937022 96937022 single base substitution T C downstream_gene_variant SKCM-US 2 96937022 96937022 single base substitution T C exon_variant SKCM-US 2 96937022 96937022 single base substitution T C missense_variant L318P 953T>C SKCM-US 2 96944041 96944041 single base substitution G A downstream_gene_variant STAD-US 2 96936850 96936850 single base substitution T C downstream_gene_variant STAD-US 2 96936850 96936850 single base substitution T C missense_variant C261R 781T>C STAD-US 2 96936850 96936850 single base substitution T C splice_region_variant STAD-US 2 96940786 96940786 single base substitution A G downstream_gene_variant STAD-US 2 96943411 96943411 single base substitution T C downstream_gene_variant STAD-US 2 96943574 96943574 single base substitution G A downstream_gene_variant STAD-US 2 96944058 96944058 single base substitution G A downstream_gene_variant THCA-US 2 96933105 96933105 single base substitution C T exon_variant THCA-US 2 96933105 96933105 single base substitution C T intron_variant THCA-US 2 96933105 96933105 single base substitution C T synonymous_variant R62R 186C>T UCEC-US 2 96933609 96933609 single base substitution C T downstream_gene_variant UCEC-US 2 96933609 96933609 single base substitution C T exon_variant UCEC-US 2 96933609 96933609 single base substitution C T missense_variant L146F 436C>T UCEC-US 2 96934237 96934237 single base substitution C T downstream_gene_variant UCEC-US 2 96934237 96934237 single base substitution C T exon_variant UCEC-US 2 96934237 96934237 single base substitution C T missense_variant R178W 532C>T UCEC-US 2 96935008 96935008 single base substitution G A downstream_gene_variant UCEC-US 2 96935008 96935008 single base substitution G A exon_variant UCEC-US 2 96935008 96935008 single base substitution G A missense_variant V232M 694G>A UCEC-US 2 96936923 96936923 single base substitution C T downstream_gene_variant UCEC-US 2 96936923 96936923 single base substitution C T exon_variant UCEC-US 2 96936923 96936923 single base substitution C T missense_variant S285L 854C>T UCEC-US 2 96942656 96942656 single base substitution G A downstream_gene_variant UCEC-US 2 96942657 96942657 single base substitution C T downstream_gene_variant UCEC-US 2 96943290 96943290 single base substitution C T downstream_gene_variant UCEC-US 2 96943590 96943590 single base substitution C T downstream_gene_variant UCEC-US 2 96944017 96944017 single base substitution C T downstream_gene_variant UCEC-US 2 96944080 96944080 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MedB-1 COSM5620491 c.929C>T p.A310V Substitution - Missense 2:96271260-96271260 + RMS66_ COSM4987908 c.520G>A p.V174M Substitution - Missense 2:96268487-96268487 + TCGA-AN-A0FK-01 COSM5834513 c.486_487insCC p.E163fs*4 Insertion - Frameshift 2:96267921-96267922 + CHC2052T COSM4790090 c.873C>T p.T291T Substitution - coding silent 2:96271204-96271204 + T3058 COSM4672419 c.194G>A p.R65Q Substitution - Missense 2:96267375-96267375 + CSCC-31-T COSM4511755 c.879C>T p.S293S Substitution - coding silent 2:96271210-96271210 + TCGA-BS-A0UF-01 COSM1023858 c.436C>T p.L146F Substitution - Missense 2:96267871-96267871 + T3226 COSM4672420 c.216C>T p.C72C Substitution - coding silent 2:96267397-96267397 + TCGA-DK-A2I4-01 COSM3799279 c.72G>A p.W24* Substitution - Nonsense 2:96266422-96266422 + PD23578a COSM5777730 c.888C>G p.A296A Substitution - coding silent 2:96271219-96271219 + SNU-C2B COSM2825379 c.846T>C p.D282D Substitution - coding silent 2:96271177-96271177 + HCA7 COSM4630813 c.665G>A p.R222H Substitution - Missense 2:96268632-96268632 + YUGURT COSM5397591 c.211C>T p.P71S Substitution - Missense 2:96267392-96267392 + AOCS-091-1-3 COSM4141304 c.170C>G p.S57C Substitution - Missense 2:96267351-96267351 + pfg019T COSM1642010 c.822C>T p.D274D Substitution - coding silent 2:96271153-96271153 + TCGA-FD-A3B5-01 COSM1307107 c.233C>T p.S78F Substitution - Missense 2:96267414-96267414 + PA285 COSM1163267 c.226C>T p.L76L Substitution - coding silent 2:96267407-96267407 + 12-P279 COSM4583705 c.914A>C p.D305A Substitution - Missense 2:96271245-96271245 + H2009 COSM1193873 c.692G>A p.G231E Substitution - Missense 2:96269268-96269268 + CSB15 COSM5025671 c.935A>T p.N312I Substitution - Missense 2:96271266-96271266 + Pat_14_B COSM5863012 c.647G>A p.R216H Substitution - Missense 2:96268614-96268614 + TCGA-D1-A17M-01 COSM1023860 c.694G>A p.V232M Substitution - Missense 2:96269270-96269270 + CSCC-62-T COSM4502039 c.603C>T p.A201A Substitution - coding silent 2:96268570-96268570 + TCGA-E2-A10C-01 COSM443388 c.789G>A p.L263L Substitution - coding silent 2:96271120-96271120 + PT42 COSM5924912 c.395G>A p.W132* Substitution - Nonsense 2:96267731-96267731 + pfg065T COSM4759100 c.505A>T p.S169C Substitution - Missense 2:96268472-96268472 + HN_62601 COSM127637 c.357C>T p.L119L Substitution - coding silent 2:96267693-96267693 + TCGA-HU-8602-01 COSM4096360 c.781T>C p.C261R Substitution - Missense 2:96271112-96271112 + OSCC-GB_01350111 COSM5956238 c.172G>A p.E58K Substitution - Missense 2:96267353-96267353 + CSCC-47-T COSM4454538 c.517A>T p.T173S Substitution - Missense 2:96268484-96268484 + KPOPBR-07-T COSM5964117 c.612G>A p.P204P Substitution - coding silent 2:96268579-96268579 + Pat_40_A COSM5863013 c.878C>T p.S293F Substitution - Missense 2:96271209-96271209 + TCGA-AZ-6601-01 COSM1410029 c.855G>A p.S285S Substitution - coding silent 2:96271186-96271186 + 8016583 COSM1168945 c.825G>A p.A275A Substitution - coding silent 2:96271156-96271156 + NPC5F COSM4996268 c.479C>T p.P160L Substitution - Missense 2:96267914-96267914 + TCGA-FE-A236-01 COSM3372905 c.186C>T p.R62R Substitution - coding silent 2:96267367-96267367 + TCGA-AD-5900-01 COSM3695645 c.29G>A p.R10H Substitution - Missense 2:96266379-96266379 + TCGA-A5-A0GP-01 COSM1023861 c.854C>T p.S285L Substitution - Missense 2:96271185-96271185 + TP_2064 COSM5571747 c.190G>A p.V64M Substitution - Missense 2:96267371-96267371 + TCGA-D9-A1JW-06 COSM3584075 c.589G>C p.V197L Substitution - Missense 2:96268556-96268556 + LUAD-RT-S01831 COSM384377 c.607G>C p.D203H Substitution - Missense 2:96268574-96268574 + TCGA-EE-A3AB-06 COSM3584077 c.953T>C p.L318P Substitution - Missense 2:96271284-96271284 + Pat_40_B COSM5863013 c.878C>T p.S293F Substitution - Missense 2:96271209-96271209 + CHC2052T COSM4790090 c.873C>T p.T291T Substitution - coding silent 2:96271204-96271204 + TCGA-AN-A0FK-01 COSM5834512 c.483_484insG p.Q162fs*10 Insertion - Frameshift 2:96267918-96267919 + TCGA-ER-A3PL-06 COSM3584076 c.838C>T p.Q280* Substitution - Nonsense 2:96271169-96271169 + MOLT-4 COSM1669139 c.656G>A p.R219H Substitution - Missense 2:96268623-96268623 + TCGA-A5-A0VP-01 COSM1023859 c.532C>T p.R178W Substitution - Missense 2:96268499-96268499 + GC1_T COSM148902 c.683A>G p.N228S Substitution - Missense 2:96268650-96268650 + TCGA-AC-A23H-01 COSM3840279 c.511G>C p.D171H Substitution - Missense 2:96268478-96268478 + H23 COSM1196317 c.847C>A p.P283T Substitution - Missense 2:96271178-96271178 + LUAD-74TBW COSM355125 c.909C>A p.S303S Substitution - coding silent 2:96271240-96271240 + HCC028T COSM5807637 c.234T>A p.S78S Substitution - coding silent 2:96267415-96267415 + NCI-H23 COSM1196317 c.847C>A p.P283T Substitution - Missense 2:96271178-96271178 + C086 COSM5528698 c.710C>T p.S237F Substitution - Missense 2:96269286-96269286 + PASFXA COSM5005931 c.533G>A p.R178Q Substitution - Missense 2:96268500-96268500 + SNU-175 COSM2825378 c.829C>T p.R277C Substitution - Missense 2:96271160-96271160 + PT21_2 COSM5901119 c.986C>T p.A329V Substitution - Missense 2:96271317-96271317 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12109 2q11.2 604333 2393949|CGAP|BC001395|C/T|coding|Leu339Leu|1085|Validated; 2393949|CGAP|BC032812|C/T|coding|Leu339Leu|1115|Validated; 1513931|dbSNP|BC001395|C/T|non-coding||7|Candidate; 1513931|dbSNP|BC032812|C/T|non-coding||37|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.N312I c.935A>T 2 96937004 BRCA C A Missense p.L294M c.880C>A 2 96936949 LUAD C T Missense p.R178W c.532C>T 2 96934237 UCEC C T Missense p.S285L c.854C>T 2 96936923 UCEC C T Missense p.S78F c.233C>T 2 96933152 BLCA C T Synonymous p.D274D c.822C>T 2 96936891 STAD C T Synonymous p.L119L c.357C>T 2 96933431 HNSC C T Synonymous p.R62R c.186C>T 2 96933105 THCA G A Missense p.A114T c.340G>A 2 96933414 HNSC G A Missense p.E139K c.415G>A 2 96933588 HNSC G A Missense p.V232M c.694G>A 2 96935008 UCEC G A Nonsense p.W24* c.72G>A 2 96932160 BLCA G A Synonymous p.L30L c.90G>A 2 96932178 CM G C Missense p.V197L c.589G>C 2 96934294 CM G T Synonymous p.V309V c.927G>T 2 96936996 LUAD T C Missense p.L318P c.953T>C 2 96937022 CM