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 95709781 95709781 + Missense_Mutation SNP G G T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:95709781G>T c.100G>T c.(100-102)Gtg>Ttg p.V34L BLCA 1 95709982 95709982 + Missense_Mutation SNP C C T TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr1:95709982C>T c.301C>T c.(301-303)Cat>Tat p.H101Y BRCA 1 95710162 95710162 + Nonsense_Mutation SNP A A T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 g.chr1:95710162A>T c.481A>T c.(481-483)Aag>Tag p.K161* COAD 1 95699871 95699871 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:95699871G>A c.85G>A c.(85-87)Gag>Aag p.E29K COAD 1 95710080 95710080 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:95710080G>A c.399G>A c.(397-399)acG>acA p.T133T COAD 1 95710178 95710178 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:95710178T>C c.497T>C c.(496-498)tTa>tCa p.L166S COADREAD 1 95699871 95699871 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:95699871G>A c.85G>A c.(85-87)Gag>Aag p.E29K COADREAD 1 95710051 95710051 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:95710051A>C c.370A>C c.(370-372)Agt>Cgt p.S124R COADREAD 1 95710080 95710080 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:95710080G>A c.399G>A c.(397-399)acG>acA p.T133T COADREAD 1 95710178 95710178 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:95710178T>C c.497T>C c.(496-498)tTa>tCa p.L166S HNSC 1 95709957 95709957 + Silent SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr1:95709957G>A c.276G>A c.(274-276)gaG>gaA p.E92E HNSC 1 95710026 95710026 + Silent SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr1:95710026C>A c.345C>A c.(343-345)ctC>ctA p.L115L HNSC 1 95710106 95710106 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr1:95710106C>G c.425C>G c.(424-426)aCt>aGt p.T142S KIPAN 1 95710051 95710051 + Missense_Mutation SNP A A T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr1:95710051A>T c.370A>T c.(370-372)Agt>Tgt p.S124C KIRP 1 95710051 95710051 + Missense_Mutation SNP A A T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr1:95710051A>T c.370A>T c.(370-372)Agt>Tgt p.S124C LIHC 1 95710153 95710153 + Missense_Mutation SNP A A G TCGA-DD-AACY-01A-11D-A40R-10 TCGA-DD-AACY-10A-01D-A40U-10 g.chr1:95710153A>G c.472A>G c.(472-474)Att>Gtt p.I158V LIHC 1 95712212 95712212 + Splice_Site SNP A A T TCGA-DD-AACQ-01A-11D-A40R-10 TCGA-DD-AACQ-10A-01D-A40U-10 g.chr1:95712212A>T c.688A>T c.(688-690)Agg>Tgg p.R230W LUAD 1 95709848 95709848 + Missense_Mutation SNP A A G TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr1:95709848A>G c.167A>G c.(166-168)cAt>cGt p.H56R LUAD 1 95710108 95710108 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr1:95710108C>G c.427C>G c.(427-429)Ctt>Gtt p.L143V LUAD 1 95712169 95712169 + Missense_Mutation SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr1:95712169G>A c.645G>A c.(643-645)atG>atA p.M215I LUSC 1 95709926 95709926 + Missense_Mutation SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:95709926C>G c.245C>G c.(244-246)aCt>aGt p.T82S LUSC 1 95709967 95709967 + Missense_Mutation SNP T T C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr1:95709967T>C c.286T>C c.(286-288)Tcg>Ccg p.S96P OV 1 95709781 95709781 + Missense_Mutation SNP G G C TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 g.chr1:95709781G>C c.100G>C c.(100-102)Gtg>Ctg p.V34L PRAD 1 95712099 95712099 + Splice_Site SNP A A G TCGA-V1-A9Z8-01A-11D-A41K-08 TCGA-V1-A9Z8-10A-01D-A41N-08 g.chr1:95712099A>G c.575A>G c.(574-576)gAg>gGg p.E192G READ 1 95710051 95710051 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:95710051A>C c.370A>C c.(370-372)Agt>Cgt p.S124R SKCM 1 95699828 95699828 + Silent SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr1:95699828G>A c.42G>A c.(40-42)gcG>gcA p.A14A SKCM 1 95709865 95709865 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:95709865C>T c.184C>T c.(184-186)Cct>Tct p.P62S SKCM 1 95712135 95712135 + Missense_Mutation SNP T T C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:95712135T>C c.611T>C c.(610-612)gTg>gCg p.V204A SKCM 1 95712207 95712207 + Missense_Mutation SNP A A T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:95712207A>T c.683A>T c.(682-684)cAc>cTc p.H228L SKCM 1 95712208 95712208 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:95712208C>T c.684C>T c.(682-684)caC>caT p.H228H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 95710087 95710087 single base substitution G C downstream_gene_variant BLCA-CN 1 95710087 95710087 single base substitution G C exon_variant BLCA-CN 1 95710087 95710087 single base substitution G C intron_variant BLCA-CN 1 95710087 95710087 single base substitution G C missense_variant D121H 361G>C BLCA-CN 1 95710087 95710087 single base substitution G C missense_variant D136H 406G>C BLCA-CN 1 95710087 95710087 single base substitution G C upstream_gene_variant BRCA-EU 1 95695445 95695445 single base substitution T A upstream_gene_variant BRCA-EU 1 95695553 95695553 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 95696026 95696026 single base substitution C G upstream_gene_variant BRCA-EU 1 95698911 95698911 single base substitution G T upstream_gene_variant BRCA-EU 1 95700172 95700172 single base substitution C T intron_variant BRCA-EU 1 95702718 95702718 single base substitution T C intron_variant BRCA-EU 1 95703322 95703322 single base substitution G A intron_variant BRCA-EU 1 95704229 95704229 single base substitution T G intron_variant BRCA-EU 1 95704281 95704281 deletion of <=200bp T - intron_variant BRCA-EU 1 95704594 95704594 single base substitution G C intron_variant BRCA-EU 1 95704994 95704994 single base substitution T C intron_variant BRCA-EU 1 95705756 95705756 single base substitution T C intron_variant BRCA-EU 1 95706245 95706245 single base substitution G A intron_variant BRCA-EU 1 95708006 95708008 deletion of <=200bp CTC - intron_variant BRCA-EU 1 95708006 95708008 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 1 95709255 95709255 single base substitution A G intron_variant BRCA-EU 1 95709255 95709255 single base substitution A G upstream_gene_variant BRCA-EU 1 95709433 95709433 single base substitution T G intron_variant BRCA-EU 1 95709433 95709433 single base substitution T G upstream_gene_variant BRCA-EU 1 95709781 95709781 single base substitution G C exon_variant BRCA-EU 1 95709781 95709781 single base substitution G C intron_variant BRCA-EU 1 95709781 95709781 single base substitution G C missense_variant V19L 55G>C BRCA-EU 1 95709781 95709781 single base substitution G C missense_variant V34L 100G>C BRCA-EU 1 95709781 95709781 single base substitution G C upstream_gene_variant BRCA-EU 1 95710087 95710087 single base substitution G T downstream_gene_variant BRCA-EU 1 95710087 95710087 single base substitution G T exon_variant BRCA-EU 1 95710087 95710087 single base substitution G T intron_variant BRCA-EU 1 95710087 95710087 single base substitution G T missense_variant D121Y 361G>T BRCA-EU 1 95710087 95710087 single base substitution G T missense_variant D136Y 406G>T BRCA-EU 1 95710087 95710087 single base substitution G T upstream_gene_variant BRCA-EU 1 95710804 95710804 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 95710804 95710804 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 95710804 95710804 deletion of <=200bp T - intron_variant BRCA-EU 1 95710804 95710804 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 95711061 95711061 single base substitution A G downstream_gene_variant BRCA-EU 1 95711061 95711061 single base substitution A G intron_variant BRCA-EU 1 95711061 95711061 single base substitution A G upstream_gene_variant BRCA-EU 1 95713863 95713863 single base substitution C T downstream_gene_variant BRCA-EU 1 95714061 95714061 single base substitution C T downstream_gene_variant BRCA-EU 1 95715272 95715272 single base substitution A G downstream_gene_variant BRCA-EU 1 95716542 95716545 deletion of <=200bp TTTG - downstream_gene_variant BRCA-EU 1 95717150 95717150 single base substitution C T downstream_gene_variant BRCA-FR 1 95703322 95703322 single base substitution G A intron_variant BRCA-FR 1 95704994 95704994 single base substitution T C intron_variant BRCA-FR 1 95708426 95708426 single base substitution G A intron_variant BRCA-FR 1 95708426 95708426 single base substitution G A upstream_gene_variant BRCA-FR 1 95709255 95709255 single base substitution A G intron_variant BRCA-FR 1 95709255 95709255 single base substitution A G upstream_gene_variant BRCA-FR 1 95713863 95713863 single base substitution C T downstream_gene_variant BRCA-FR 1 95714061 95714061 single base substitution C T downstream_gene_variant BRCA-UK 1 95700000 95700000 single base substitution G A intron_variant BRCA-US 1 95710162 95710162 single base substitution A T downstream_gene_variant BRCA-US 1 95710162 95710162 single base substitution A T exon_variant BRCA-US 1 95710162 95710162 single base substitution A T intron_variant BRCA-US 1 95710162 95710162 single base substitution A T stop_gained K146* 436A>T BRCA-US 1 95710162 95710162 single base substitution A T stop_gained K161* 481A>T BRCA-US 1 95710162 95710162 single base substitution A T upstream_gene_variant BTCA-JP 1 95705551 95705551 single base substitution G A intron_variant CESC-US 1 95712057 95712057 single base substitution C G downstream_gene_variant CESC-US 1 95712057 95712057 single base substitution C G exon_variant CESC-US 1 95712057 95712057 single base substitution C G intron_variant CLLE-ES 1 95712213 95712213 single base substitution G T downstream_gene_variant CLLE-ES 1 95712213 95712213 single base substitution G T intron_variant CLLE-ES 1 95712213 95712213 single base substitution G T missense_variant R230M 689G>T CLLE-ES 1 95712213 95712213 single base substitution G T splice_region_variant CLLE-ES 1 95716232 95716232 single base substitution G A downstream_gene_variant COAD-US 1 95699871 95699871 single base substitution G A missense_variant E29K 85G>A COAD-US 1 95699871 95699871 single base substitution G A splice_region_variant COAD-US 1 95710178 95710178 single base substitution T C downstream_gene_variant COAD-US 1 95710178 95710178 single base substitution T C exon_variant COAD-US 1 95710178 95710178 single base substitution T C intron_variant COAD-US 1 95710178 95710178 single base substitution T C missense_variant L151S 452T>C COAD-US 1 95710178 95710178 single base substitution T C missense_variant L166S 497T>C COAD-US 1 95710178 95710178 single base substitution T C upstream_gene_variant COCA-CN 1 95696485 95696485 single base substitution G A upstream_gene_variant COCA-CN 1 95696538 95696538 single base substitution C T upstream_gene_variant COCA-CN 1 95696653 95696653 single base substitution T C upstream_gene_variant COCA-CN 1 95696709 95696709 single base substitution T G upstream_gene_variant COCA-CN 1 95699842 95699842 single base substitution C A 5_prime_UTR_variant COCA-CN 1 95699842 95699842 single base substitution C A exon_variant COCA-CN 1 95699842 95699842 single base substitution C A missense_variant P19H 56C>A COCA-CN 1 95712458 95712458 single base substitution C A 3_prime_UTR_variant COCA-CN 1 95712458 95712458 single base substitution C A downstream_gene_variant COCA-CN 1 95712458 95712458 single base substitution C A exon_variant ESAD-UK 1 95695728 95695728 single base substitution C A upstream_gene_variant ESAD-UK 1 95697325 95697325 single base substitution C T upstream_gene_variant ESAD-UK 1 95697802 95697802 single base substitution T G upstream_gene_variant ESAD-UK 1 95697929 95697929 single base substitution C G upstream_gene_variant ESAD-UK 1 95701372 95701372 insertion of <=200bp - T intron_variant ESAD-UK 1 95702249 95702249 single base substitution C T intron_variant ESAD-UK 1 95702893 95702893 single base substitution C T intron_variant ESAD-UK 1 95703851 95703851 single base substitution T C intron_variant ESAD-UK 1 95706158 95706158 single base substitution A G intron_variant ESAD-UK 1 95706461 95706461 single base substitution T C intron_variant ESAD-UK 1 95707422 95707422 insertion of <=200bp - C intron_variant ESAD-UK 1 95707422 95707422 insertion of <=200bp - C upstream_gene_variant ESAD-UK 1 95707779 95707779 single base substitution T A intron_variant ESAD-UK 1 95707779 95707779 single base substitution T A upstream_gene_variant ESAD-UK 1 95709195 95709195 single base substitution T G intron_variant ESAD-UK 1 95709195 95709195 single base substitution T G upstream_gene_variant ESAD-UK 1 95712979 95712979 single base substitution G A downstream_gene_variant ESAD-UK 1 95713969 95713969 single base substitution C G downstream_gene_variant KIRP-US 1 95710051 95710051 single base substitution A T downstream_gene_variant KIRP-US 1 95710051 95710051 single base substitution A T exon_variant KIRP-US 1 95710051 95710051 single base substitution A T intron_variant KIRP-US 1 95710051 95710051 single base substitution A T missense_variant S109C 325A>T KIRP-US 1 95710051 95710051 single base substitution A T missense_variant S124C 370A>T KIRP-US 1 95710051 95710051 single base substitution A T upstream_gene_variant LICA-CN 1 95710034 95710034 single base substitution C T downstream_gene_variant LICA-CN 1 95710034 95710034 single base substitution C T exon_variant LICA-CN 1 95710034 95710034 single base substitution C T intron_variant LICA-CN 1 95710034 95710034 single base substitution C T missense_variant P103L 308C>T LICA-CN 1 95710034 95710034 single base substitution C T missense_variant P118L 353C>T LICA-CN 1 95710034 95710034 single base substitution C T upstream_gene_variant LICA-CN 1 95710125 95710125 single base substitution C A downstream_gene_variant LICA-CN 1 95710125 95710125 single base substitution C A exon_variant LICA-CN 1 95710125 95710125 single base substitution C A intron_variant LICA-CN 1 95710125 95710125 single base substitution C A missense_variant H133Q 399C>A LICA-CN 1 95710125 95710125 single base substitution C A missense_variant H148Q 444C>A LICA-CN 1 95710125 95710125 single base substitution C A upstream_gene_variant LICA-CN 1 95710161 95710161 single base substitution G A downstream_gene_variant LICA-CN 1 95710161 95710161 single base substitution G A exon_variant LICA-CN 1 95710161 95710161 single base substitution G A intron_variant LICA-CN 1 95710161 95710161 single base substitution G A synonymous_variant E145E 435G>A LICA-CN 1 95710161 95710161 single base substitution G A synonymous_variant E160E 480G>A LICA-CN 1 95710161 95710161 single base substitution G A upstream_gene_variant LICA-FR 1 95699825 95699825 single base substitution C A 5_prime_UTR_variant LICA-FR 1 95699825 95699825 single base substitution C A exon_variant LICA-FR 1 95699825 95699825 single base substitution C A synonymous_variant A13A 39C>A LICA-FR 1 95704896 95704896 single base substitution A T intron_variant LINC-JP 1 95696646 95696646 single base substitution T C upstream_gene_variant LINC-JP 1 95700933 95700933 single base substitution G T intron_variant LINC-JP 1 95706161 95706161 single base substitution A G intron_variant LINC-JP 1 95710845 95710845 single base substitution A G 3_prime_UTR_variant LINC-JP 1 95710845 95710845 single base substitution A G downstream_gene_variant LINC-JP 1 95710845 95710845 single base substitution A G intron_variant LINC-JP 1 95710845 95710845 single base substitution A G upstream_gene_variant LINC-JP 1 95711163 95711163 single base substitution A G downstream_gene_variant LINC-JP 1 95711163 95711163 single base substitution A G intron_variant LINC-JP 1 95711163 95711163 single base substitution A G upstream_gene_variant LIRI-JP 1 95695453 95695453 single base substitution A T upstream_gene_variant LIRI-JP 1 95696489 95696489 single base substitution T C upstream_gene_variant LIRI-JP 1 95698850 95698850 single base substitution C A upstream_gene_variant LIRI-JP 1 95698896 95698896 single base substitution C T upstream_gene_variant LIRI-JP 1 95698955 95698955 single base substitution G A upstream_gene_variant LIRI-JP 1 95702059 95702059 single base substitution T G intron_variant LIRI-JP 1 95702842 95702842 single base substitution G A intron_variant LIRI-JP 1 95704265 95704266 deletion of <=200bp TC - intron_variant LIRI-JP 1 95708301 95708301 single base substitution C A intron_variant LIRI-JP 1 95708301 95708301 single base substitution C A upstream_gene_variant LIRI-JP 1 95709607 95709607 single base substitution G T intron_variant LIRI-JP 1 95709607 95709607 single base substitution G T upstream_gene_variant LIRI-JP 1 95710413 95710416 deletion of <=200bp TGTC - 3_prime_UTR_variant LIRI-JP 1 95710413 95710416 deletion of <=200bp TGTC - downstream_gene_variant LIRI-JP 1 95710413 95710416 deletion of <=200bp TGTC - intron_variant LIRI-JP 1 95710413 95710416 deletion of <=200bp TGTC - upstream_gene_variant LIRI-JP 1 95712745 95712745 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 95712745 95712745 single base substitution C A downstream_gene_variant LIRI-JP 1 95712745 95712745 single base substitution C A exon_variant LIRI-JP 1 95715712 95715712 single base substitution G A downstream_gene_variant LIRI-JP 1 95716515 95716515 single base substitution A C downstream_gene_variant LUSC-KR 1 95696531 95696531 single base substitution C T upstream_gene_variant LUSC-KR 1 95701001 95701001 single base substitution A G intron_variant LUSC-US 1 95709926 95709926 single base substitution C G exon_variant LUSC-US 1 95709926 95709926 single base substitution C G intron_variant LUSC-US 1 95709926 95709926 single base substitution C G missense_variant T67S 200C>G LUSC-US 1 95709926 95709926 single base substitution C G missense_variant T82S 245C>G LUSC-US 1 95709926 95709926 single base substitution C G upstream_gene_variant LUSC-US 1 95709967 95709967 single base substitution T C exon_variant LUSC-US 1 95709967 95709967 single base substitution T C intron_variant LUSC-US 1 95709967 95709967 single base substitution T C missense_variant S81P 241T>C LUSC-US 1 95709967 95709967 single base substitution T C missense_variant S96P 286T>C LUSC-US 1 95709967 95709967 single base substitution T C upstream_gene_variant MALY-DE 1 95698848 95698848 single base substitution C G upstream_gene_variant MALY-DE 1 95706403 95706403 single base substitution G A intron_variant MALY-DE 1 95707610 95707610 single base substitution A C intron_variant MALY-DE 1 95707610 95707610 single base substitution A C upstream_gene_variant MALY-DE 1 95710461 95710461 single base substitution G C 3_prime_UTR_variant MALY-DE 1 95710461 95710461 single base substitution G C downstream_gene_variant MALY-DE 1 95710461 95710461 single base substitution G C intron_variant MALY-DE 1 95710461 95710461 single base substitution G C upstream_gene_variant MALY-DE 1 95712023 95712023 single base substitution T G downstream_gene_variant MALY-DE 1 95712023 95712023 single base substitution T G exon_variant MALY-DE 1 95712023 95712023 single base substitution T G intron_variant MALY-DE 1 95714891 95714891 single base substitution G A downstream_gene_variant MALY-DE 1 95716189 95716189 single base substitution A G downstream_gene_variant MELA-AU 1 95695076 95695076 single base substitution T C upstream_gene_variant MELA-AU 1 95695182 95695183 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 1 95695819 95695819 single base substitution G A upstream_gene_variant MELA-AU 1 95696586 95696586 single base substitution C T upstream_gene_variant MELA-AU 1 95696829 95696829 single base substitution T C upstream_gene_variant MELA-AU 1 95697684 95697684 single base substitution T C upstream_gene_variant MELA-AU 1 95698042 95698042 single base substitution C T upstream_gene_variant MELA-AU 1 95698627 95698627 single base substitution C T upstream_gene_variant MELA-AU 1 95699698 95699698 single base substitution G A upstream_gene_variant MELA-AU 1 95701878 95701878 single base substitution C T intron_variant MELA-AU 1 95702037 95702037 single base substitution C G intron_variant MELA-AU 1 95704020 95704020 single base substitution C T intron_variant MELA-AU 1 95705086 95705086 single base substitution G C intron_variant MELA-AU 1 95705248 95705248 single base substitution C T intron_variant MELA-AU 1 95705763 95705763 single base substitution C T intron_variant MELA-AU 1 95705883 95705883 single base substitution C T intron_variant MELA-AU 1 95706345 95706345 single base substitution A C intron_variant MELA-AU 1 95707414 95707414 single base substitution C T intron_variant MELA-AU 1 95707414 95707414 single base substitution C T upstream_gene_variant MELA-AU 1 95707424 95707424 single base substitution C T intron_variant MELA-AU 1 95707424 95707424 single base substitution C T upstream_gene_variant MELA-AU 1 95707669 95707669 single base substitution C T intron_variant MELA-AU 1 95707669 95707669 single base substitution C T upstream_gene_variant MELA-AU 1 95707683 95707683 single base substitution C T intron_variant MELA-AU 1 95707683 95707683 single base substitution C T upstream_gene_variant MELA-AU 1 95708381 95708381 single base substitution A T intron_variant MELA-AU 1 95708381 95708381 single base substitution A T upstream_gene_variant MELA-AU 1 95708521 95708521 single base substitution G A intron_variant MELA-AU 1 95708521 95708521 single base substitution G A upstream_gene_variant MELA-AU 1 95709020 95709020 single base substitution C T intron_variant MELA-AU 1 95709020 95709020 single base substitution C T upstream_gene_variant MELA-AU 1 95709316 95709316 single base substitution C T intron_variant MELA-AU 1 95709316 95709316 single base substitution C T upstream_gene_variant MELA-AU 1 95709549 95709549 single base substitution C T intron_variant MELA-AU 1 95709549 95709549 single base substitution C T upstream_gene_variant MELA-AU 1 95709619 95709619 single base substitution T A intron_variant MELA-AU 1 95709619 95709619 single base substitution T A upstream_gene_variant MELA-AU 1 95710749 95710749 single base substitution C T 3_prime_UTR_variant MELA-AU 1 95710749 95710749 single base substitution C T downstream_gene_variant MELA-AU 1 95710749 95710749 single base substitution C T intron_variant MELA-AU 1 95710749 95710749 single base substitution C T upstream_gene_variant MELA-AU 1 95710810 95710811 multiple base substitution (>=2bp and <=200bp) TT AA 3_prime_UTR_variant MELA-AU 1 95710810 95710811 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 1 95710810 95710811 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 1 95710810 95710811 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 1 95713200 95713200 single base substitution C T downstream_gene_variant MELA-AU 1 95713635 95713635 single base substitution T C downstream_gene_variant MELA-AU 1 95714381 95714381 single base substitution C T downstream_gene_variant MELA-AU 1 95714749 95714749 single base substitution C A downstream_gene_variant MELA-AU 1 95715134 95715134 single base substitution C T downstream_gene_variant MELA-AU 1 95716283 95716283 single base substitution C T downstream_gene_variant MELA-AU 1 95716382 95716382 single base substitution C T downstream_gene_variant MELA-AU 1 95716416 95716416 single base substitution T A downstream_gene_variant MELA-AU 1 95716491 95716491 single base substitution C T downstream_gene_variant MELA-AU 1 95716492 95716492 single base substitution C T downstream_gene_variant MELA-AU 1 95716999 95716999 single base substitution G A downstream_gene_variant MELA-AU 1 95717276 95717276 single base substitution G A downstream_gene_variant MELA-AU 1 95717569 95717569 single base substitution T C downstream_gene_variant OV-AU 1 95698791 95698791 single base substitution T C upstream_gene_variant OV-AU 1 95701282 95701282 single base substitution C G intron_variant OV-AU 1 95705829 95705829 single base substitution T A intron_variant OV-AU 1 95706123 95706123 single base substitution C G intron_variant OV-AU 1 95710455 95710455 single base substitution G C 3_prime_UTR_variant OV-AU 1 95710455 95710455 single base substitution G C downstream_gene_variant OV-AU 1 95710455 95710455 single base substitution G C intron_variant OV-AU 1 95710455 95710455 single base substitution G C upstream_gene_variant OV-AU 1 95712508 95712508 single base substitution T C 3_prime_UTR_variant OV-AU 1 95712508 95712508 single base substitution T C downstream_gene_variant OV-AU 1 95712508 95712508 single base substitution T C exon_variant OV-AU 1 95714058 95714058 single base substitution C T downstream_gene_variant OV-AU 1 95714895 95714895 single base substitution G A downstream_gene_variant OV-AU 1 95715849 95715849 single base substitution C T downstream_gene_variant OV-AU 1 95717760 95717760 single base substitution G T downstream_gene_variant PACA-AU 1 95695076 95695076 single base substitution T G upstream_gene_variant PACA-AU 1 95699360 95699360 single base substitution T G upstream_gene_variant PACA-AU 1 95702728 95702728 single base substitution T C intron_variant PACA-AU 1 95705581 95705581 single base substitution T C intron_variant PACA-AU 1 95707373 95707373 single base substitution T A intron_variant PACA-AU 1 95707373 95707373 single base substitution T A upstream_gene_variant PACA-AU 1 95707611 95707611 deletion of <=200bp C - intron_variant PACA-AU 1 95707611 95707611 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 95697191 95697191 single base substitution T G upstream_gene_variant PACA-CA 1 95700131 95700131 single base substitution C T intron_variant PACA-CA 1 95705856 95705856 single base substitution A C intron_variant PACA-CA 1 95707422 95707422 deletion of <=200bp C - intron_variant PACA-CA 1 95707422 95707422 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 95708321 95708321 deletion of <=200bp A - intron_variant PACA-CA 1 95708321 95708321 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 95708368 95708368 single base substitution G A intron_variant PACA-CA 1 95708368 95708368 single base substitution G A upstream_gene_variant PACA-CA 1 95708526 95708526 single base substitution A T intron_variant PACA-CA 1 95708526 95708526 single base substitution A T upstream_gene_variant PACA-CA 1 95710206 95710206 single base substitution G A downstream_gene_variant PACA-CA 1 95710206 95710206 single base substitution G A exon_variant PACA-CA 1 95710206 95710206 single base substitution G A intron_variant PACA-CA 1 95710206 95710206 single base substitution G A missense_variant M160I 480G>A PACA-CA 1 95710206 95710206 single base substitution G A missense_variant M175I 525G>A PACA-CA 1 95710206 95710206 single base substitution G A splice_region_variant PACA-CA 1 95710206 95710206 single base substitution G A upstream_gene_variant PACA-CA 1 95715444 95715444 single base substitution C T downstream_gene_variant PACA-CA 1 95717395 95717395 single base substitution A C downstream_gene_variant PAEN-IT 1 95702264 95702264 single base substitution T C intron_variant PBCA-DE 1 95697682 95697682 single base substitution C A upstream_gene_variant PBCA-DE 1 95704963 95704963 single base substitution T C intron_variant PBCA-DE 1 95708936 95708936 single base substitution G T intron_variant PBCA-DE 1 95708936 95708936 single base substitution G T upstream_gene_variant PBCA-DE 1 95711019 95711019 single base substitution T G 3_prime_UTR_variant PBCA-DE 1 95711019 95711019 single base substitution T G downstream_gene_variant PBCA-DE 1 95711019 95711019 single base substitution T G intron_variant PBCA-DE 1 95711019 95711019 single base substitution T G upstream_gene_variant PRAD-CA 1 95699237 95699237 single base substitution G A upstream_gene_variant PRAD-CA 1 95700821 95700821 single base substitution G C intron_variant PRAD-CA 1 95703474 95703474 single base substitution G T intron_variant PRAD-CA 1 95703638 95703638 single base substitution G A intron_variant PRAD-CA 1 95704711 95704711 single base substitution G T intron_variant PRAD-CA 1 95713418 95713418 single base substitution G T downstream_gene_variant PRAD-UK 1 95698567 95698567 single base substitution C G upstream_gene_variant PRAD-UK 1 95706730 95706730 single base substitution A C intron_variant PRAD-UK 1 95706730 95706730 single base substitution A C upstream_gene_variant PRAD-UK 1 95707422 95707422 insertion of <=200bp - C intron_variant PRAD-UK 1 95707422 95707422 insertion of <=200bp - C upstream_gene_variant RECA-EU 1 95711374 95711374 single base substitution G T downstream_gene_variant RECA-EU 1 95711374 95711374 single base substitution G T intron_variant RECA-EU 1 95711374 95711374 single base substitution G T upstream_gene_variant RECA-EU 1 95716734 95716734 single base substitution T C downstream_gene_variant RECA-EU 1 95717114 95717114 single base substitution G C downstream_gene_variant SKCA-BR 1 95694770 95694770 single base substitution G A upstream_gene_variant SKCA-BR 1 95700614 95700614 insertion of <=200bp - AT intron_variant SKCA-BR 1 95701423 95701423 insertion of <=200bp - TA intron_variant SKCA-BR 1 95701805 95701805 single base substitution C T intron_variant SKCA-BR 1 95701888 95701888 insertion of <=200bp - GA intron_variant SKCA-BR 1 95703607 95703607 single base substitution C T intron_variant SKCA-BR 1 95707217 95707217 single base substitution C T intron_variant SKCA-BR 1 95707217 95707217 single base substitution C T upstream_gene_variant SKCA-BR 1 95711584 95711584 single base substitution G T downstream_gene_variant SKCA-BR 1 95711584 95711584 single base substitution G T intron_variant SKCA-BR 1 95711584 95711584 single base substitution G T upstream_gene_variant SKCA-BR 1 95716320 95716320 single base substitution C T downstream_gene_variant SKCM-US 1 95699828 95699828 single base substitution G A 5_prime_UTR_variant SKCM-US 1 95699828 95699828 single base substitution G A exon_variant SKCM-US 1 95699828 95699828 single base substitution G A synonymous_variant A14A 42G>A SKCM-US 1 95709865 95709865 single base substitution C T exon_variant SKCM-US 1 95709865 95709865 single base substitution C T intron_variant SKCM-US 1 95709865 95709865 single base substitution C T missense_variant P47S 139C>T SKCM-US 1 95709865 95709865 single base substitution C T missense_variant P62S 184C>T SKCM-US 1 95709865 95709865 single base substitution C T upstream_gene_variant SKCM-US 1 95710055 95710055 single base substitution A G downstream_gene_variant SKCM-US 1 95710055 95710055 single base substitution A G exon_variant SKCM-US 1 95710055 95710055 single base substitution A G intron_variant SKCM-US 1 95710055 95710055 single base substitution A G missense_variant E110G 329A>G SKCM-US 1 95710055 95710055 single base substitution A G missense_variant E125G 374A>G SKCM-US 1 95710055 95710055 single base substitution A G upstream_gene_variant SKCM-US 1 95712135 95712135 single base substitution T C downstream_gene_variant SKCM-US 1 95712135 95712135 single base substitution T C exon_variant SKCM-US 1 95712135 95712135 single base substitution T C intron_variant SKCM-US 1 95712135 95712135 single base substitution T C missense_variant V204A 611T>C SKCM-US 1 95712368 95712368 single base substitution T G 3_prime_UTR_variant SKCM-US 1 95712368 95712368 single base substitution T G downstream_gene_variant SKCM-US 1 95712368 95712368 single base substitution T G exon_variant SKCM-US 1 95712368 95712368 single base substitution T G missense_variant F249C 746T>G STAD-US 1 95709927 95709928 deletion of <=200bp TG - exon_variant STAD-US 1 95709927 95709928 deletion of <=200bp TG - frameshift_variant TV67 STAD-US 1 95709927 95709928 deletion of <=200bp TG - frameshift_variant TV82 STAD-US 1 95709927 95709928 deletion of <=200bp TG - intron_variant STAD-US 1 95709927 95709928 deletion of <=200bp TG - upstream_gene_variant STAD-US 1 95709937 95709937 single base substitution A G exon_variant STAD-US 1 95709937 95709937 single base substitution A G intron_variant STAD-US 1 95709937 95709937 single base substitution A G missense_variant N71D 211A>G STAD-US 1 95709937 95709937 single base substitution A G missense_variant N86D 256A>G STAD-US 1 95709937 95709937 single base substitution A G upstream_gene_variant STAD-US 1 95710148 95710148 single base substitution T C downstream_gene_variant STAD-US 1 95710148 95710148 single base substitution T C exon_variant STAD-US 1 95710148 95710148 single base substitution T C intron_variant STAD-US 1 95710148 95710148 single base substitution T C missense_variant V141A 422T>C STAD-US 1 95710148 95710148 single base substitution T C missense_variant V156A 467T>C STAD-US 1 95710148 95710148 single base substitution T C upstream_gene_variant STAD-US 1 95710198 95710198 single base substitution A G downstream_gene_variant STAD-US 1 95710198 95710198 single base substitution A G exon_variant STAD-US 1 95710198 95710198 single base substitution A G intron_variant STAD-US 1 95710198 95710198 single base substitution A G missense_variant M158V 472A>G STAD-US 1 95710198 95710198 single base substitution A G missense_variant M173V 517A>G STAD-US 1 95710198 95710198 single base substitution A G upstream_gene_variant UCEC-US 1 95710013 95710013 single base substitution T G downstream_gene_variant UCEC-US 1 95710013 95710013 single base substitution T G exon_variant UCEC-US 1 95710013 95710013 single base substitution T G intron_variant UCEC-US 1 95710013 95710013 single base substitution T G missense_variant L111R 332T>G UCEC-US 1 95710013 95710013 single base substitution T G missense_variant L96R 287T>G UCEC-US 1 95710013 95710013 single base substitution T G upstream_gene_variant UCEC-US 1 95710036 95710036 single base substitution G A downstream_gene_variant UCEC-US 1 95710036 95710036 single base substitution G A exon_variant UCEC-US 1 95710036 95710036 single base substitution G A intron_variant UCEC-US 1 95710036 95710036 single base substitution G A missense_variant E104K 310G>A UCEC-US 1 95710036 95710036 single base substitution G A missense_variant E119K 355G>A UCEC-US 1 95710036 95710036 single base substitution G A upstream_gene_variant UCEC-US 1 95710070 95710070 single base substitution C G downstream_gene_variant UCEC-US 1 95710070 95710070 single base substitution C G exon_variant UCEC-US 1 95710070 95710070 single base substitution C G intron_variant UCEC-US 1 95710070 95710070 single base substitution C G stop_gained S115* 344C>G UCEC-US 1 95710070 95710070 single base substitution C G stop_gained S130* 389C>G UCEC-US 1 95710070 95710070 single base substitution C G upstream_gene_variant UCEC-US 1 95710119 95710119 single base substitution A C downstream_gene_variant UCEC-US 1 95710119 95710119 single base substitution A C exon_variant UCEC-US 1 95710119 95710119 single base substitution A C intron_variant UCEC-US 1 95710119 95710119 single base substitution A C missense_variant L131F 393A>C UCEC-US 1 95710119 95710119 single base substitution A C missense_variant L146F 438A>C UCEC-US 1 95710119 95710119 single base substitution A C splice_acceptor_variant UCEC-US 1 95710119 95710119 single base substitution A C upstream_gene_variant UCEC-US 1 95710193 95710193 single base substitution G T downstream_gene_variant UCEC-US 1 95710193 95710193 single base substitution G T exon_variant UCEC-US 1 95710193 95710193 single base substitution G T intron_variant UCEC-US 1 95710193 95710193 single base substitution G T missense_variant R156I 467G>T UCEC-US 1 95710193 95710193 single base substitution G T missense_variant R171I 512G>T UCEC-US 1 95710193 95710193 single base substitution G T upstream_gene_variant UCEC-US 1 95710241 95710241 single base substitution G T downstream_gene_variant UCEC-US 1 95710241 95710241 single base substitution G T exon_variant UCEC-US 1 95710241 95710241 single base substitution G T intron_variant UCEC-US 1 95710241 95710241 single base substitution G T missense_variant R172I 515G>T UCEC-US 1 95710241 95710241 single base substitution G T missense_variant R187I 560G>T UCEC-US 1 95710241 95710241 single base substitution G T upstream_gene_variant UCEC-US 1 95712133 95712133 single base substitution T C downstream_gene_variant UCEC-US 1 95712133 95712133 single base substitution T C exon_variant UCEC-US 1 95712133 95712133 single base substitution T C intron_variant UCEC-US 1 95712133 95712133 single base substitution T C synonymous_variant D203D 609T>C UCEC-US 1 95712161 95712161 single base substitution G A downstream_gene_variant UCEC-US 1 95712161 95712161 single base substitution G A exon_variant UCEC-US 1 95712161 95712161 single base substitution G A intron_variant UCEC-US 1 95712161 95712161 single base substitution G A missense_variant E213K 637G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AX-A05Z-01 COSM913544 c.355G>A p.E119K Substitution - Missense 1:95244480-95244480 + PD8614a COSM5769218 c.406G>T p.D136Y Substitution - Missense 1:95244531-95244531 + SNU-C4 COSM4653223 c.24G>T p.E8D Substitution - Missense 1:95234254-95234254 + 3N25-VS-3T25 COSM4979886 c.547C>T p.L183L Substitution - coding silent 1:95244672-95244672 + TCGA-33-4566-01 COSM682628 c.245C>G p.T82S Substitution - Missense 1:95244370-95244370 + MDA-N COSM1667721 c.427C>T p.L143F Substitution - Missense 1:95244552-95244552 + S01366 COSM314947 c.209_222del14 p.N71fs*14 Deletion - Frameshift 1:95244334-95244347 + B63-Tumor COSM3930883 c.406G>C p.D136H Substitution - Missense 1:95244531-95244531 + TCGA-BP-5008-01 COSM465137 c.519G>T p.M173I Substitution - Missense 1:95244644-95244644 + TCGA-EE-A181-06 COSM3493601 c.611T>C p.V204A Substitution - Missense 1:95246579-95246579 + Pat_41_B COSM5847522 c.362G>A p.G121D Substitution - Missense 1:95244487-95244487 + 98 COSM5010579 c.554G>A p.G185E Substitution - Missense 1:95244679-95244679 + HCC075T COSM5822020 c.444C>A p.H148Q Substitution - Missense 1:95244569-95244569 + TCGA-AN-A0FD-01 COSM426877 c.481A>T p.K161* Substitution - Nonsense 1:95244606-95244606 + TCGA-CG-5721-01 COSM4010748 c.256A>G p.N86D Substitution - Missense 1:95244381-95244381 + TCGA-AA-3663-01 COSM1345043 c.497T>C p.L166S Substitution - Missense 1:95244622-95244622 + CRC-09T COSM5452872 c.56C>A p.P19H Substitution - Missense 1:95234286-95234286 + TCGA-GL-A59T-01 COSM3985333 c.370A>T p.S124C Substitution - Missense 1:95244495-95244495 + TCGA-CM-5861-01 COSM1345042 c.85G>A p.E29K Substitution - Missense 1:95234315-95234315 + TCGA-AA-3977-01 COSM5117281 c.690-10T>C p.? Unknown 1:95246746-95246746 + S01366 COSM314947 c.209_222del14 p.N71fs*14 Deletion - Frameshift 1:95244334-95244347 + TCGA-A5-A0VP-01 COSM913543 c.332T>G p.L111R Substitution - Missense 1:95244457-95244457 + TCGA-66-2770-01 COSM682627 c.286T>C p.S96P Substitution - Missense 1:95244411-95244411 + MO_1012 COSM5567119 c.336G>A p.R112R Substitution - coding silent 1:95244461-95244461 + HCC075T COSM5822040 c.480G>A p.E160E Substitution - coding silent 1:95244605-95244605 + TCGA-BR-4361-01 COSM4010750 c.517A>G p.M173V Substitution - Missense 1:95244642-95244642 + T28 COSM5618287 c.1A>G p.M1V Substitution - Missense 1:95234231-95234231 + TCGA-EY-A1GS-01 COSM913545 c.389C>G p.S130* Substitution - Nonsense 1:95244514-95244514 + TCGA-EE-A181-06 COSM3493600 c.184C>T p.P62S Substitution - Missense 1:95244309-95244309 + T2269 COSM4723179 c.629A>C p.K210T Substitution - Missense 1:95246597-95246597 + TCGA-GN-A26C-01 COSM3493602 c.746T>G p.F249C Substitution - Missense 1:95246812-95246812 + 27 COSM5748765 c.464_465insA p.Y155fs*1 Insertion - Frameshift 1:95244589-95244590 + TCGA-AG-A002-01 COSM263474 c.370A>C p.S124R Substitution - Missense 1:95244495-95244495 + 44_T COSM3977997 c.289G>C p.E97Q Substitution - Missense 1:95244414-95244414 + CHC1035T COSM3667597 c.39C>A p.A13A Substitution - coding silent 1:95234269-95234269 + TCGA-BS-A0UJ-01 COSM913549 c.609T>C p.D203D Substitution - coding silent 1:95246577-95246577 + TCGA-CG-5721-01 COSM4010749 c.467T>C p.V156A Substitution - Missense 1:95244592-95244592 + TCGA-BS-A0UF-01 COSM913546 c.438A>C p.L146F Substitution - Missense 1:95244563-95244563 + 1525-01-02TD COSM5417998 c.689G>T p.R230M Substitution - Missense 1:95246657-95246657 + MDA-MB-435 COSM1667721 c.427C>T p.L143F Substitution - Missense 1:95244552-95244552 + TCGA-B5-A11E-01 COSM913547 c.512G>T p.R171I Substitution - Missense 1:95244637-95244637 + M14 COSM1667721 c.427C>T p.L143F Substitution - Missense 1:95244552-95244552 + TCGA-EB-A4IS-01 COSM3866300 c.374A>G p.E125G Substitution - Missense 1:95244499-95244499 + CSCC-18-T COSM4540748 c.288G>A p.S96S Substitution - coding silent 1:95244413-95244413 + TCGA-AX-A0J0-01 COSM913548 c.560G>T p.R187I Substitution - Missense 1:95244685-95244685 + 46M COSM5588862 c.777C>T p.S259S Substitution - coding silent 1:95246843-95246843 + TCGA-EE-A29G-06 COSM3493599 c.42G>A p.A14A Substitution - coding silent 1:95234272-95234272 + HCC100T COSM5811134 c.353C>T p.P118L Substitution - Missense 1:95244478-95244478 + TCGA-AA-A00N-01 COSM277134 c.399G>A p.T133T Substitution - coding silent 1:95244524-95244524 + CHC1035T COSM3667597 c.39C>A p.A13A Substitution - coding silent 1:95234269-95234269 + TCGA-24-2262-01 COSM72511 c.100G>C p.V34L Substitution - Missense 1:95244225-95244225 + TCGA-AX-A0J0-01 COSM913550 c.637G>A p.E213K Substitution - Missense 1:95246605-95246605 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709586;Hs.709588;Hs.709591 1p21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H56R c.167A>G 1 95709848 LUAD A T Nonsense p.K161* c.481A>T 1 95710162 BRCA C A Synonymous p.L115L c.345C>A 1 95710026 HNSC C G Missense p.T142S c.425C>G 1 95710106 HNSC C G Nonsense p.S130* c.389C>G 1 95710070 UCEC C T Missense p.P62S c.184C>T 1 95709865 CM G A Missense p.M215I c.645G>A 1 95712169 LUAD G A Synonymous p.A14A c.42G>A 1 95699828 CM G C Missense p.V34L c.100G>C 1 95709781 OV T C Missense p.S96P c.286T>C 1 95709967 LUSC T C Missense p.V204A c.611T>C 1 95712135 CM TG - Frameshift p.V83Efs*6 c.248_249delTG 1 95709927 STAD T G Missense p.F249C c.746T>G 1 95712368 CM T G Missense p.L111R c.332T>G 1 95710013 UCEC