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 12 93968538 93968538 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr12:93968538G>A c.180G>A c.(178-180)gaG>gaA p.E60E BRCA 12 93968720 93968720 + Missense_Mutation SNP G G T TCGA-AC-A2FE-01A-11D-A19Y-09 TCGA-AC-A2FE-11B-22D-A19Y-09 g.chr12:93968720G>T c.362G>T c.(361-363)aGt>aTt p.S121I CESC 12 93968515 93968516 + Frame_Shift_Ins INS - - T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr12:93968515_93968516insT c.157_158insT c.(157-159)atgfs p.M53fs CESC 12 93968591 93968591 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr12:93968591C>T c.233C>T c.(232-234)tCa>tTa p.S78L CESC 12 93968612 93968612 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:93968612C>G c.254C>G c.(253-255)tCt>tGt p.S85C COAD 12 93968645 93968645 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:93968645G>A c.287G>A c.(286-288)cGa>cAa p.R96Q COAD 12 93968737 93968737 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:93968737G>A c.379G>A c.(379-381)Gac>Aac p.D127N COADREAD 12 93966719 93966719 + Missense_Mutation SNP A A G TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr12:93966719A>G c.46A>G c.(46-48)Acg>Gcg p.T16A COADREAD 12 93968645 93968645 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:93968645G>A c.287G>A c.(286-288)cGa>cAa p.R96Q COADREAD 12 93968737 93968737 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:93968737G>A c.379G>A c.(379-381)Gac>Aac p.D127N COADREAD 12 93968937 93968937 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:93968937A>C c.579A>C c.(577-579)gaA>gaC p.E193D GBM 12 93968661 93968661 + Silent SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr12:93968661C>T c.303C>T c.(301-303)gaC>gaT p.D101D GBMLGG 12 93968661 93968661 + Silent SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr12:93968661C>T c.303C>T c.(301-303)gaC>gaT p.D101D HNSC 12 93968681 93968681 + Missense_Mutation SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr12:93968681C>A c.323C>A c.(322-324)tCt>tAt p.S108Y HNSC 12 93968823 93968823 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 g.chr12:93968823G>A c.465G>A c.(463-465)ccG>ccA p.P155P LIHC 12 93968804 93968804 + Missense_Mutation SNP A A T TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr12:93968804A>T c.446A>T c.(445-447)cAc>cTc p.H149L LUAD 12 93968550 93968550 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:93968550G>T c.192G>T c.(190-192)gaG>gaT p.E64D LUAD 12 93968690 93968690 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:93968690G>A c.332G>A c.(331-333)tGt>tAt p.C111Y LUAD 12 93968706 93968706 + Silent SNP T T G TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr12:93968706T>G c.348T>G c.(346-348)ctT>ctG p.L116L LUAD 12 93968830 93968830 + Missense_Mutation SNP A A G TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr12:93968830A>G c.472A>G c.(472-474)Acg>Gcg p.T158A LUSC 12 93968716 93968716 + Missense_Mutation SNP G G C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr12:93968716G>C c.358G>C c.(358-360)Gac>Cac p.D120H LUSC 12 93968892 93968892 + Silent SNP C C T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chr12:93968892C>T c.534C>T c.(532-534)atC>atT p.I178I LUSC 12 93968918 93968918 + Missense_Mutation SNP T T A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr12:93968918T>A c.560T>A c.(559-561)cTa>cAa p.L187Q READ 12 93966719 93966719 + Missense_Mutation SNP A A G TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr12:93966719A>G c.46A>G c.(46-48)Acg>Gcg p.T16A READ 12 93968937 93968937 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:93968937A>C c.579A>C c.(577-579)gaA>gaC p.E193D SARC 12 93968915 93968915 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:93968915G>A c.557G>A c.(556-558)aGa>aAa p.R186K SKCM 12 93968784 93968784 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr12:93968784C>T c.426C>T c.(424-426)gcC>gcT p.A142A SKCM 12 93968785 93968785 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr12:93968785C>T c.427C>T c.(427-429)Ccc>Tcc p.P143S SKCM 12 93968856 93968856 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:93968856C>T c.498C>T c.(496-498)ctC>ctT p.L166L SKCM 12 93968909 93968909 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr12:93968909C>T c.551C>T c.(550-552)cCa>cTa p.P184L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 12 93970121 93970121 single base substitution T A 3_prime_UTR_variant BOCA-FR 12 93970121 93970121 single base substitution T A downstream_gene_variant BOCA-FR 12 93970121 93970121 single base substitution T A intron_variant BRCA-EU 12 93959271 93959271 single base substitution C G upstream_gene_variant BRCA-EU 12 93961303 93961303 single base substitution C G upstream_gene_variant BRCA-EU 12 93961909 93961910 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 12 93961918 93961918 single base substitution G T upstream_gene_variant BRCA-EU 12 93962060 93962060 single base substitution A G upstream_gene_variant BRCA-EU 12 93962824 93962824 single base substitution C T upstream_gene_variant BRCA-EU 12 93963941 93963941 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 93963941 93963941 single base substitution G A upstream_gene_variant BRCA-EU 12 93964202 93964202 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 93964202 93964202 single base substitution C T intron_variant BRCA-EU 12 93964202 93964202 single base substitution C T upstream_gene_variant BRCA-EU 12 93965562 93965562 single base substitution A G 5_prime_UTR_variant BRCA-EU 12 93965562 93965562 single base substitution A G intron_variant BRCA-EU 12 93965562 93965562 single base substitution A G upstream_gene_variant BRCA-EU 12 93965915 93965915 single base substitution G T 5_prime_UTR_variant BRCA-EU 12 93965915 93965915 single base substitution G T intron_variant BRCA-EU 12 93965915 93965915 single base substitution G T upstream_gene_variant BRCA-EU 12 93966613 93966613 single base substitution G C 5_prime_UTR_variant BRCA-EU 12 93966613 93966613 single base substitution G C upstream_gene_variant BRCA-EU 12 93966676 93966676 single base substitution G A start_lost M1I 3G>A BRCA-EU 12 93966676 93966676 single base substitution G A upstream_gene_variant BRCA-EU 12 93968048 93968048 single base substitution T C 3_prime_UTR_variant BRCA-EU 12 93968048 93968048 single base substitution T C downstream_gene_variant BRCA-EU 12 93968048 93968048 single base substitution T C intron_variant BRCA-EU 12 93968048 93968048 single base substitution T C upstream_gene_variant BRCA-EU 12 93968060 93968060 single base substitution A C 3_prime_UTR_variant BRCA-EU 12 93968060 93968060 single base substitution A C downstream_gene_variant BRCA-EU 12 93968060 93968060 single base substitution A C intron_variant BRCA-EU 12 93968060 93968060 single base substitution A C upstream_gene_variant BRCA-EU 12 93968965 93968965 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 93968965 93968965 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 93968965 93968965 deletion of <=200bp T - intron_variant BRCA-EU 12 93969159 93969159 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 93969159 93969159 single base substitution C A downstream_gene_variant BRCA-EU 12 93969159 93969159 single base substitution C A intron_variant BRCA-EU 12 93970933 93970933 single base substitution G C downstream_gene_variant BRCA-EU 12 93970933 93970933 single base substitution G C intron_variant BRCA-EU 12 93971194 93971194 single base substitution C T downstream_gene_variant BRCA-EU 12 93971194 93971194 single base substitution C T intron_variant BRCA-EU 12 93971403 93971403 single base substitution T A downstream_gene_variant BRCA-EU 12 93971403 93971403 single base substitution T A intron_variant BRCA-EU 12 93972860 93972860 single base substitution T G downstream_gene_variant BRCA-EU 12 93972860 93972860 single base substitution T G intron_variant BRCA-EU 12 93973010 93973010 single base substitution C G downstream_gene_variant BRCA-EU 12 93973010 93973010 single base substitution C G intron_variant BRCA-EU 12 93973271 93973271 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 93973271 93973271 deletion of <=200bp T - intron_variant BRCA-EU 12 93973668 93973668 single base substitution A G downstream_gene_variant BRCA-EU 12 93973668 93973668 single base substitution A G intron_variant BRCA-EU 12 93973778 93973778 single base substitution C T downstream_gene_variant BRCA-EU 12 93973778 93973778 single base substitution C T intron_variant BRCA-EU 12 93974913 93974913 single base substitution C T downstream_gene_variant BRCA-EU 12 93974913 93974913 single base substitution C T intron_variant BRCA-EU 12 93975541 93975541 single base substitution G C intron_variant BRCA-EU 12 93978797 93978797 single base substitution C G downstream_gene_variant BRCA-FR 12 93964202 93964202 single base substitution C T 5_prime_UTR_variant BRCA-FR 12 93964202 93964202 single base substitution C T intron_variant BRCA-FR 12 93964202 93964202 single base substitution C T upstream_gene_variant BRCA-UK 12 93964196 93964196 single base substitution C T 5_prime_UTR_variant BRCA-UK 12 93964196 93964196 single base substitution C T intron_variant BRCA-UK 12 93964196 93964196 single base substitution C T upstream_gene_variant BRCA-UK 12 93973751 93973751 single base substitution G C downstream_gene_variant BRCA-UK 12 93973751 93973751 single base substitution G C intron_variant CESC-US 12 93968515 93968515 insertion of <=200bp - T 3_prime_UTR_variant CESC-US 12 93968515 93968515 insertion of <=200bp - T downstream_gene_variant CESC-US 12 93968515 93968515 insertion of <=200bp - T frameshift_variant M53Y? CESC-US 12 93968515 93968515 insertion of <=200bp - T upstream_gene_variant CESC-US 12 93968591 93968591 single base substitution C T 3_prime_UTR_variant CESC-US 12 93968591 93968591 single base substitution C T downstream_gene_variant CESC-US 12 93968591 93968591 single base substitution C T missense_variant S78L 233C>T CESC-US 12 93968591 93968591 single base substitution C T upstream_gene_variant CESC-US 12 93968612 93968612 single base substitution C G 3_prime_UTR_variant CESC-US 12 93968612 93968612 single base substitution C G downstream_gene_variant CESC-US 12 93968612 93968612 single base substitution C G missense_variant S85C 254C>G CESC-US 12 93968612 93968612 single base substitution C G upstream_gene_variant CLLE-ES 12 93959858 93959858 single base substitution C T upstream_gene_variant CLLE-ES 12 93962013 93962013 single base substitution G A upstream_gene_variant CLLE-ES 12 93976610 93976610 single base substitution C T intron_variant CLLE-ES 12 93978832 93978832 single base substitution C G downstream_gene_variant COCA-CN 12 93965607 93965607 single base substitution T C 5_prime_UTR_variant COCA-CN 12 93965607 93965607 single base substitution T C intron_variant COCA-CN 12 93965607 93965607 single base substitution T C upstream_gene_variant COCA-CN 12 93966892 93966892 single base substitution G A downstream_gene_variant COCA-CN 12 93966892 93966892 single base substitution G A intron_variant COCA-CN 12 93966892 93966892 single base substitution G A synonymous_variant G73G 219G>A COCA-CN 12 93966892 93966892 single base substitution G A upstream_gene_variant COCA-CN 12 93968391 93968391 single base substitution C T 3_prime_UTR_variant COCA-CN 12 93968391 93968391 single base substitution C T downstream_gene_variant COCA-CN 12 93968391 93968391 single base substitution C T intron_variant COCA-CN 12 93968391 93968391 single base substitution C T upstream_gene_variant EOPC-DE 12 93979661 93979661 single base substitution A G downstream_gene_variant ESAD-UK 12 93958946 93958946 single base substitution G A upstream_gene_variant ESAD-UK 12 93960140 93960140 single base substitution G A upstream_gene_variant ESAD-UK 12 93961339 93961339 single base substitution C T upstream_gene_variant ESAD-UK 12 93963622 93963622 single base substitution C A 5_prime_UTR_variant ESAD-UK 12 93963622 93963622 single base substitution C A upstream_gene_variant ESAD-UK 12 93964038 93964038 single base substitution C G intron_variant ESAD-UK 12 93964038 93964038 single base substitution C G upstream_gene_variant ESAD-UK 12 93964818 93964818 single base substitution C T 5_prime_UTR_variant ESAD-UK 12 93964818 93964818 single base substitution C T intron_variant ESAD-UK 12 93964818 93964818 single base substitution C T upstream_gene_variant ESAD-UK 12 93967504 93967504 single base substitution G C 3_prime_UTR_variant ESAD-UK 12 93967504 93967504 single base substitution G C downstream_gene_variant ESAD-UK 12 93967504 93967504 single base substitution G C intron_variant ESAD-UK 12 93967504 93967504 single base substitution G C upstream_gene_variant ESAD-UK 12 93968789 93968789 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 93968789 93968789 single base substitution G A downstream_gene_variant ESAD-UK 12 93968789 93968789 single base substitution G A missense_variant R144Q 431G>A ESAD-UK 12 93968789 93968789 single base substitution G A missense_variant R16Q 47G>A ESAD-UK 12 93968789 93968789 single base substitution G A upstream_gene_variant ESAD-UK 12 93971064 93971064 single base substitution A G downstream_gene_variant ESAD-UK 12 93971064 93971064 single base substitution A G intron_variant ESAD-UK 12 93971605 93971605 single base substitution T C downstream_gene_variant ESAD-UK 12 93971605 93971605 single base substitution T C intron_variant ESAD-UK 12 93972000 93972000 single base substitution A G downstream_gene_variant ESAD-UK 12 93972000 93972000 single base substitution A G intron_variant ESAD-UK 12 93972567 93972567 single base substitution A C downstream_gene_variant ESAD-UK 12 93972567 93972567 single base substitution A C intron_variant ESAD-UK 12 93973862 93973862 single base substitution C A downstream_gene_variant ESAD-UK 12 93973862 93973862 single base substitution C A intron_variant ESAD-UK 12 93979823 93979823 deletion of <=200bp T - downstream_gene_variant GBM-US 12 93968661 93968661 single base substitution C T 3_prime_UTR_variant GBM-US 12 93968661 93968661 single base substitution C T downstream_gene_variant GBM-US 12 93968661 93968661 single base substitution C T synonymous_variant D101D 303C>T GBM-US 12 93968661 93968661 single base substitution C T upstream_gene_variant LICA-FR 12 93960553 93960553 single base substitution G A upstream_gene_variant LICA-FR 12 93981456 93981456 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 93968875 93968875 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 12 93968875 93968875 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 93968875 93968875 deletion of <=200bp A - frameshift_variant K14 LINC-JP 12 93968875 93968875 deletion of <=200bp A - frameshift_variant K173 LINC-JP 12 93968875 93968875 deletion of <=200bp A - frameshift_variant K45 LINC-JP 12 93972458 93972458 single base substitution G A downstream_gene_variant LINC-JP 12 93972458 93972458 single base substitution G A intron_variant LIRI-JP 12 93960934 93960934 single base substitution C A upstream_gene_variant LIRI-JP 12 93962030 93962030 single base substitution G A upstream_gene_variant LIRI-JP 12 93963367 93963367 single base substitution C G upstream_gene_variant LIRI-JP 12 93963471 93963471 single base substitution C T upstream_gene_variant LIRI-JP 12 93966073 93966073 single base substitution T C 5_prime_UTR_variant LIRI-JP 12 93966073 93966073 single base substitution T C intron_variant LIRI-JP 12 93966073 93966073 single base substitution T C upstream_gene_variant LIRI-JP 12 93972613 93972613 deletion of <=200bp G - downstream_gene_variant LIRI-JP 12 93972613 93972613 deletion of <=200bp G - intron_variant LIRI-JP 12 93972898 93972898 single base substitution A C downstream_gene_variant LIRI-JP 12 93972898 93972898 single base substitution A C intron_variant LIRI-JP 12 93973828 93973828 single base substitution A G downstream_gene_variant LIRI-JP 12 93973828 93973828 single base substitution A G intron_variant LIRI-JP 12 93975971 93975971 single base substitution G A intron_variant LIRI-JP 12 93979445 93979445 single base substitution C T downstream_gene_variant LIRI-JP 12 93980288 93980288 single base substitution G A downstream_gene_variant LIRI-JP 12 93980833 93980833 single base substitution A G downstream_gene_variant LUSC-KR 12 93959163 93959163 single base substitution C A upstream_gene_variant LUSC-KR 12 93964964 93964964 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 12 93964964 93964964 single base substitution C T intron_variant LUSC-KR 12 93964964 93964964 single base substitution C T upstream_gene_variant LUSC-KR 12 93966436 93966436 single base substitution C A 5_prime_UTR_variant LUSC-KR 12 93966436 93966436 single base substitution C A intron_variant LUSC-KR 12 93966436 93966436 single base substitution C A upstream_gene_variant LUSC-KR 12 93966802 93966802 single base substitution C G downstream_gene_variant LUSC-KR 12 93966802 93966802 single base substitution C G synonymous_variant L43L 129C>G LUSC-KR 12 93966802 93966802 single base substitution C G upstream_gene_variant LUSC-KR 12 93967546 93967546 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 93967546 93967546 single base substitution C T downstream_gene_variant LUSC-KR 12 93967546 93967546 single base substitution C T intron_variant LUSC-KR 12 93967546 93967546 single base substitution C T upstream_gene_variant LUSC-KR 12 93967604 93967604 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 93967604 93967604 single base substitution C G downstream_gene_variant LUSC-KR 12 93967604 93967604 single base substitution C G intron_variant LUSC-KR 12 93967604 93967604 single base substitution C G upstream_gene_variant LUSC-KR 12 93968072 93968072 single base substitution T A 3_prime_UTR_variant LUSC-KR 12 93968072 93968072 single base substitution T A downstream_gene_variant LUSC-KR 12 93968072 93968072 single base substitution T A intron_variant LUSC-KR 12 93968072 93968072 single base substitution T A upstream_gene_variant LUSC-KR 12 93970026 93970026 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 93970026 93970026 single base substitution T C downstream_gene_variant LUSC-KR 12 93970026 93970026 single base substitution T C intron_variant LUSC-KR 12 93973879 93973879 single base substitution C T downstream_gene_variant LUSC-KR 12 93973879 93973879 single base substitution C T intron_variant LUSC-KR 12 93974351 93974351 single base substitution C G downstream_gene_variant LUSC-KR 12 93974351 93974351 single base substitution C G intron_variant LUSC-KR 12 93976793 93976793 single base substitution T C intron_variant LUSC-KR 12 93980600 93980600 single base substitution G C downstream_gene_variant LUSC-KR 12 93981485 93981485 single base substitution G T downstream_gene_variant LUSC-US 12 93968716 93968716 single base substitution G C 3_prime_UTR_variant LUSC-US 12 93968716 93968716 single base substitution G C downstream_gene_variant LUSC-US 12 93968716 93968716 single base substitution G C missense_variant D120H 358G>C LUSC-US 12 93968716 93968716 single base substitution G C upstream_gene_variant LUSC-US 12 93968892 93968892 single base substitution C T 3_prime_UTR_variant LUSC-US 12 93968892 93968892 single base substitution C T downstream_gene_variant LUSC-US 12 93968892 93968892 single base substitution C T synonymous_variant I178I 534C>T LUSC-US 12 93968892 93968892 single base substitution C T synonymous_variant I19I 57C>T LUSC-US 12 93968892 93968892 single base substitution C T synonymous_variant I50I 150C>T LUSC-US 12 93968918 93968918 single base substitution T A 3_prime_UTR_variant LUSC-US 12 93968918 93968918 single base substitution T A downstream_gene_variant LUSC-US 12 93968918 93968918 single base substitution T A missense_variant L187Q 560T>A LUSC-US 12 93968918 93968918 single base substitution T A missense_variant L28Q 83T>A LUSC-US 12 93968918 93968918 single base substitution T A missense_variant L59Q 176T>A MALY-DE 12 93967785 93967785 single base substitution C A 3_prime_UTR_variant MALY-DE 12 93967785 93967785 single base substitution C A downstream_gene_variant MALY-DE 12 93967785 93967785 single base substitution C A intron_variant MALY-DE 12 93967785 93967785 single base substitution C A upstream_gene_variant MALY-DE 12 93968421 93968421 single base substitution T A 3_prime_UTR_variant MALY-DE 12 93968421 93968421 single base substitution T A downstream_gene_variant MALY-DE 12 93968421 93968421 single base substitution T A intron_variant MALY-DE 12 93968421 93968421 single base substitution T A upstream_gene_variant MALY-DE 12 93971993 93971993 single base substitution C T downstream_gene_variant MALY-DE 12 93971993 93971993 single base substitution C T intron_variant MALY-DE 12 93972459 93972460 deletion of <=200bp CA - downstream_gene_variant MALY-DE 12 93972459 93972460 deletion of <=200bp CA - intron_variant MALY-DE 12 93974410 93974410 single base substitution A G downstream_gene_variant MALY-DE 12 93974410 93974410 single base substitution A G intron_variant MALY-DE 12 93977454 93977454 single base substitution C G downstream_gene_variant MELA-AU 12 93958675 93958675 single base substitution G A upstream_gene_variant MELA-AU 12 93958795 93958795 single base substitution G A upstream_gene_variant MELA-AU 12 93958915 93958915 single base substitution A G upstream_gene_variant MELA-AU 12 93959156 93959156 single base substitution G A upstream_gene_variant MELA-AU 12 93959171 93959171 single base substitution G A upstream_gene_variant MELA-AU 12 93960367 93960367 single base substitution G A upstream_gene_variant MELA-AU 12 93960436 93960436 single base substitution C T upstream_gene_variant MELA-AU 12 93960458 93960458 single base substitution A C upstream_gene_variant MELA-AU 12 93960504 93960504 single base substitution G A upstream_gene_variant MELA-AU 12 93960731 93960731 single base substitution G C upstream_gene_variant MELA-AU 12 93961604 93961604 single base substitution G A upstream_gene_variant MELA-AU 12 93962862 93962862 single base substitution A G upstream_gene_variant MELA-AU 12 93963317 93963317 single base substitution T C upstream_gene_variant MELA-AU 12 93963502 93963502 single base substitution C T upstream_gene_variant MELA-AU 12 93963654 93963654 single base substitution C G 5_prime_UTR_variant MELA-AU 12 93963654 93963654 single base substitution C G upstream_gene_variant MELA-AU 12 93966036 93966036 single base substitution C G 5_prime_UTR_variant MELA-AU 12 93966036 93966036 single base substitution C G intron_variant MELA-AU 12 93966036 93966036 single base substitution C G upstream_gene_variant MELA-AU 12 93966065 93966065 single base substitution T A 5_prime_UTR_variant MELA-AU 12 93966065 93966065 single base substitution T A intron_variant MELA-AU 12 93966065 93966065 single base substitution T A upstream_gene_variant MELA-AU 12 93966067 93966067 single base substitution C T 5_prime_UTR_variant MELA-AU 12 93966067 93966067 single base substitution C T intron_variant MELA-AU 12 93966067 93966067 single base substitution C T upstream_gene_variant MELA-AU 12 93966394 93966394 single base substitution C T 5_prime_UTR_variant MELA-AU 12 93966394 93966394 single base substitution C T intron_variant MELA-AU 12 93966394 93966394 single base substitution C T upstream_gene_variant MELA-AU 12 93967082 93967087 deletion of <=200bp CCGCAG - 3_prime_UTR_variant MELA-AU 12 93967082 93967087 deletion of <=200bp CCGCAG - downstream_gene_variant MELA-AU 12 93967082 93967087 deletion of <=200bp CCGCAG - intron_variant MELA-AU 12 93967082 93967087 deletion of <=200bp CCGCAG - upstream_gene_variant MELA-AU 12 93967186 93967186 single base substitution C T 3_prime_UTR_variant MELA-AU 12 93967186 93967186 single base substitution C T downstream_gene_variant MELA-AU 12 93967186 93967186 single base substitution C T intron_variant MELA-AU 12 93967186 93967186 single base substitution C T upstream_gene_variant MELA-AU 12 93967715 93967715 single base substitution G T 3_prime_UTR_variant MELA-AU 12 93967715 93967715 single base substitution G T downstream_gene_variant MELA-AU 12 93967715 93967715 single base substitution G T intron_variant MELA-AU 12 93967715 93967715 single base substitution G T upstream_gene_variant MELA-AU 12 93968328 93968328 single base substitution C T 3_prime_UTR_variant MELA-AU 12 93968328 93968328 single base substitution C T downstream_gene_variant MELA-AU 12 93968328 93968328 single base substitution C T intron_variant MELA-AU 12 93968328 93968328 single base substitution C T upstream_gene_variant MELA-AU 12 93968672 93968672 single base substitution G T 3_prime_UTR_variant MELA-AU 12 93968672 93968672 single base substitution G T downstream_gene_variant MELA-AU 12 93968672 93968672 single base substitution G T missense_variant R105I 314G>T MELA-AU 12 93968672 93968672 single base substitution G T upstream_gene_variant MELA-AU 12 93969306 93969306 single base substitution G A 3_prime_UTR_variant MELA-AU 12 93969306 93969306 single base substitution G A downstream_gene_variant MELA-AU 12 93969306 93969306 single base substitution G A intron_variant MELA-AU 12 93969306 93969306 single base substitution G A synonymous_variant E76E 228G>A MELA-AU 12 93969497 93969497 single base substitution C T 3_prime_UTR_variant MELA-AU 12 93969497 93969497 single base substitution C T downstream_gene_variant MELA-AU 12 93969497 93969497 single base substitution C T intron_variant MELA-AU 12 93969648 93969648 single base substitution C T 3_prime_UTR_variant MELA-AU 12 93969648 93969648 single base substitution C T downstream_gene_variant MELA-AU 12 93969648 93969648 single base substitution C T intron_variant MELA-AU 12 93971206 93971206 single base substitution C T downstream_gene_variant MELA-AU 12 93971206 93971206 single base substitution C T intron_variant MELA-AU 12 93971509 93971509 single base substitution C T downstream_gene_variant MELA-AU 12 93971509 93971509 single base substitution C T intron_variant MELA-AU 12 93972101 93972101 single base substitution G A downstream_gene_variant MELA-AU 12 93972101 93972101 single base substitution G A intron_variant MELA-AU 12 93972257 93972257 single base substitution C T downstream_gene_variant MELA-AU 12 93972257 93972257 single base substitution C T intron_variant MELA-AU 12 93972985 93972985 single base substitution G A downstream_gene_variant MELA-AU 12 93972985 93972985 single base substitution G A intron_variant MELA-AU 12 93973006 93973006 single base substitution C T downstream_gene_variant MELA-AU 12 93973006 93973006 single base substitution C T intron_variant MELA-AU 12 93973270 93973270 single base substitution C T downstream_gene_variant MELA-AU 12 93973270 93973270 single base substitution C T intron_variant MELA-AU 12 93974054 93974054 single base substitution C T downstream_gene_variant MELA-AU 12 93974054 93974054 single base substitution C T intron_variant MELA-AU 12 93974491 93974491 single base substitution C T downstream_gene_variant MELA-AU 12 93974491 93974491 single base substitution C T intron_variant MELA-AU 12 93974735 93974735 single base substitution C T downstream_gene_variant MELA-AU 12 93974735 93974735 single base substitution C T intron_variant MELA-AU 12 93975455 93975455 single base substitution C T downstream_gene_variant MELA-AU 12 93975455 93975455 single base substitution C T intron_variant MELA-AU 12 93976195 93976195 single base substitution G A intron_variant MELA-AU 12 93976328 93976328 single base substitution C T intron_variant MELA-AU 12 93977433 93977433 single base substitution C T downstream_gene_variant MELA-AU 12 93977742 93977742 single base substitution C T downstream_gene_variant MELA-AU 12 93978251 93978251 single base substitution A G downstream_gene_variant MELA-AU 12 93979221 93979221 single base substitution C T downstream_gene_variant MELA-AU 12 93979569 93979569 single base substitution G A downstream_gene_variant MELA-AU 12 93979588 93979588 single base substitution G A downstream_gene_variant MELA-AU 12 93979832 93979832 single base substitution C T downstream_gene_variant MELA-AU 12 93979849 93979849 single base substitution C T downstream_gene_variant MELA-AU 12 93980537 93980537 single base substitution C T downstream_gene_variant MELA-AU 12 93980547 93980547 single base substitution G T downstream_gene_variant MELA-AU 12 93980929 93980929 single base substitution G A downstream_gene_variant MELA-AU 12 93980952 93980952 single base substitution C A downstream_gene_variant MELA-AU 12 93981206 93981206 single base substitution C T downstream_gene_variant ORCA-IN 12 93968884 93968884 single base substitution G T 3_prime_UTR_variant ORCA-IN 12 93968884 93968884 single base substitution G T downstream_gene_variant ORCA-IN 12 93968884 93968884 single base substitution G T missense_variant G176C 526G>T ORCA-IN 12 93968884 93968884 single base substitution G T missense_variant G17C 49G>T ORCA-IN 12 93968884 93968884 single base substitution G T missense_variant G48C 142G>T OV-AU 12 93961676 93961676 single base substitution A T upstream_gene_variant OV-AU 12 93965074 93965074 single base substitution G A intron_variant OV-AU 12 93965074 93965074 single base substitution G A upstream_gene_variant OV-AU 12 93967937 93967937 single base substitution T C 3_prime_UTR_variant OV-AU 12 93967937 93967937 single base substitution T C downstream_gene_variant OV-AU 12 93967937 93967937 single base substitution T C intron_variant OV-AU 12 93967937 93967937 single base substitution T C upstream_gene_variant OV-AU 12 93978066 93978066 single base substitution A G downstream_gene_variant OV-AU 12 93979583 93979583 single base substitution C T downstream_gene_variant OV-AU 12 93981210 93981210 single base substitution C A downstream_gene_variant PACA-AU 12 93962439 93962439 single base substitution G A upstream_gene_variant PACA-AU 12 93968645 93968645 single base substitution G T 3_prime_UTR_variant PACA-AU 12 93968645 93968645 single base substitution G T downstream_gene_variant PACA-AU 12 93968645 93968645 single base substitution G T missense_variant R96L 287G>T PACA-AU 12 93968645 93968645 single base substitution G T upstream_gene_variant PACA-AU 12 93968783 93968783 insertion of <=200bp - C 3_prime_UTR_variant PACA-AU 12 93968783 93968783 insertion of <=200bp - C downstream_gene_variant PACA-AU 12 93968783 93968783 insertion of <=200bp - C frameshift_variant A142A? PACA-AU 12 93968783 93968783 insertion of <=200bp - C frameshift_variant A14A? PACA-AU 12 93968783 93968783 insertion of <=200bp - C upstream_gene_variant PACA-AU 12 93971309 93971309 single base substitution T C downstream_gene_variant PACA-AU 12 93971309 93971309 single base substitution T C intron_variant PACA-AU 12 93971560 93971560 single base substitution C T downstream_gene_variant PACA-AU 12 93971560 93971560 single base substitution C T intron_variant PACA-AU 12 93976782 93976782 single base substitution T G intron_variant PACA-CA 12 93966039 93966039 single base substitution G A 5_prime_UTR_variant PACA-CA 12 93966039 93966039 single base substitution G A intron_variant PACA-CA 12 93966039 93966039 single base substitution G A upstream_gene_variant PACA-CA 12 93970689 93970689 single base substitution G A downstream_gene_variant PACA-CA 12 93970689 93970689 single base substitution G A intron_variant PACA-CA 12 93972313 93972313 single base substitution T G downstream_gene_variant PACA-CA 12 93972313 93972313 single base substitution T G intron_variant PACA-CA 12 93974265 93974265 single base substitution C G downstream_gene_variant PACA-CA 12 93974265 93974265 single base substitution C G intron_variant PACA-CA 12 93976794 93976794 single base substitution C T intron_variant PACA-CA 12 93979311 93979311 single base substitution C T downstream_gene_variant PACA-CA 12 93979838 93979838 single base substitution C T downstream_gene_variant PAEN-AU 12 93976620 93976620 single base substitution A G intron_variant PAEN-IT 12 93962483 93962483 single base substitution C T upstream_gene_variant PAEN-IT 12 93967555 93967555 single base substitution G A 3_prime_UTR_variant PAEN-IT 12 93967555 93967555 single base substitution G A downstream_gene_variant PAEN-IT 12 93967555 93967555 single base substitution G A intron_variant PAEN-IT 12 93967555 93967555 single base substitution G A upstream_gene_variant PAEN-IT 12 93968775 93968775 single base substitution T A 3_prime_UTR_variant PAEN-IT 12 93968775 93968775 single base substitution T A downstream_gene_variant PAEN-IT 12 93968775 93968775 single base substitution T A synonymous_variant G11G 33T>A PAEN-IT 12 93968775 93968775 single base substitution T A synonymous_variant G139G 417T>A PAEN-IT 12 93968775 93968775 single base substitution T A upstream_gene_variant PBCA-DE 12 93964752 93964752 single base substitution G A intron_variant PBCA-DE 12 93964752 93964752 single base substitution G A upstream_gene_variant PBCA-DE 12 93965141 93965141 single base substitution C T 5_prime_UTR_variant PBCA-DE 12 93965141 93965141 single base substitution C T intron_variant PBCA-DE 12 93965141 93965141 single base substitution C T upstream_gene_variant PBCA-DE 12 93968674 93968674 single base substitution T G 3_prime_UTR_variant PBCA-DE 12 93968674 93968674 single base substitution T G downstream_gene_variant PBCA-DE 12 93968674 93968674 single base substitution T G missense_variant L106V 316T>G PBCA-DE 12 93968674 93968674 single base substitution T G upstream_gene_variant PBCA-DE 12 93972459 93972460 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 12 93972459 93972460 deletion of <=200bp CA - intron_variant PBCA-DE 12 93981288 93981288 single base substitution T G downstream_gene_variant PRAD-CA 12 93961870 93961870 single base substitution A C upstream_gene_variant PRAD-UK 12 93964914 93964914 single base substitution C G 5_prime_UTR_variant PRAD-UK 12 93964914 93964914 single base substitution C G intron_variant PRAD-UK 12 93964914 93964914 single base substitution C G upstream_gene_variant PRAD-UK 12 93976453 93976453 single base substitution C T intron_variant PRAD-UK 12 93977427 93977427 single base substitution A T downstream_gene_variant PRAD-UK 12 93979418 93979418 single base substitution A G downstream_gene_variant READ-US 12 93968703 93968703 single base substitution G A 3_prime_UTR_variant READ-US 12 93968703 93968703 single base substitution G A downstream_gene_variant READ-US 12 93968703 93968703 single base substitution G A synonymous_variant K115K 345G>A READ-US 12 93968703 93968703 single base substitution G A upstream_gene_variant RECA-EU 12 93959957 93959957 single base substitution A C upstream_gene_variant RECA-EU 12 93969717 93969717 single base substitution G C 3_prime_UTR_variant RECA-EU 12 93969717 93969717 single base substitution G C downstream_gene_variant RECA-EU 12 93969717 93969717 single base substitution G C intron_variant RECA-EU 12 93973152 93973152 single base substitution T A downstream_gene_variant RECA-EU 12 93973152 93973152 single base substitution T A intron_variant RECA-EU 12 93973215 93973215 single base substitution T A downstream_gene_variant RECA-EU 12 93973215 93973215 single base substitution T A intron_variant RECA-EU 12 93976014 93976014 single base substitution G C intron_variant RECA-EU 12 93979633 93979633 single base substitution G T downstream_gene_variant RECA-EU 12 93979774 93979774 single base substitution T A downstream_gene_variant RECA-EU 12 93980628 93980628 single base substitution A T downstream_gene_variant SKCA-BR 12 93958707 93958707 single base substitution C G upstream_gene_variant SKCA-BR 12 93958817 93958817 single base substitution C T upstream_gene_variant SKCA-BR 12 93959356 93959356 single base substitution G A upstream_gene_variant SKCA-BR 12 93959368 93959368 single base substitution C T upstream_gene_variant SKCA-BR 12 93960342 93960342 single base substitution G A upstream_gene_variant SKCA-BR 12 93961979 93961979 single base substitution G A upstream_gene_variant SKCA-BR 12 93964853 93964853 insertion of <=200bp - CG 5_prime_UTR_variant SKCA-BR 12 93964853 93964853 insertion of <=200bp - CG intron_variant SKCA-BR 12 93964853 93964853 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 12 93966737 93966737 single base substitution A G downstream_gene_variant SKCA-BR 12 93966737 93966737 single base substitution A G missense_variant T22A 64A>G SKCA-BR 12 93966737 93966737 single base substitution A G upstream_gene_variant SKCA-BR 12 93969353 93969353 single base substitution T C 3_prime_UTR_variant SKCA-BR 12 93969353 93969353 single base substitution T C downstream_gene_variant SKCA-BR 12 93969353 93969353 single base substitution T C intron_variant SKCA-BR 12 93969353 93969353 single base substitution T C missense_variant L92P 275T>C SKCA-BR 12 93972985 93972985 single base substitution G A downstream_gene_variant SKCA-BR 12 93972985 93972985 single base substitution G A intron_variant SKCA-BR 12 93974027 93974027 single base substitution C T downstream_gene_variant SKCA-BR 12 93974027 93974027 single base substitution C T intron_variant SKCA-BR 12 93978919 93978919 single base substitution C T downstream_gene_variant SKCA-BR 12 93979831 93979831 single base substitution C T downstream_gene_variant SKCA-BR 12 93980330 93980330 single base substitution C T downstream_gene_variant SKCA-BR 12 93980869 93980869 single base substitution G T downstream_gene_variant SKCM-US 12 93968856 93968856 single base substitution C T 3_prime_UTR_variant SKCM-US 12 93968856 93968856 single base substitution C T downstream_gene_variant SKCM-US 12 93968856 93968856 single base substitution C T synonymous_variant L166L 498C>T SKCM-US 12 93968856 93968856 single base substitution C T synonymous_variant L38L 114C>T SKCM-US 12 93968856 93968856 single base substitution C T synonymous_variant L7L 21C>T SKCM-US 12 93968909 93968909 single base substitution C T 3_prime_UTR_variant SKCM-US 12 93968909 93968909 single base substitution C T downstream_gene_variant SKCM-US 12 93968909 93968909 single base substitution C T missense_variant P184L 551C>T SKCM-US 12 93968909 93968909 single base substitution C T missense_variant P25L 74C>T SKCM-US 12 93968909 93968909 single base substitution C T missense_variant P56L 167C>T STAD-US 12 93968638 93968638 single base substitution A G 3_prime_UTR_variant STAD-US 12 93968638 93968638 single base substitution A G downstream_gene_variant STAD-US 12 93968638 93968638 single base substitution A G missense_variant N94D 280A>G STAD-US 12 93968638 93968638 single base substitution A G upstream_gene_variant STAD-US 12 93968662 93968662 single base substitution G A 3_prime_UTR_variant STAD-US 12 93968662 93968662 single base substitution G A downstream_gene_variant STAD-US 12 93968662 93968662 single base substitution G A missense_variant G102R 304G>A STAD-US 12 93968662 93968662 single base substitution G A upstream_gene_variant UCEC-US 12 93966757 93966757 single base substitution G T downstream_gene_variant UCEC-US 12 93966757 93966757 single base substitution G T missense_variant E28D 84G>T UCEC-US 12 93966757 93966757 single base substitution G T upstream_gene_variant UCEC-US 12 93968497 93968497 single base substitution G A 3_prime_UTR_variant UCEC-US 12 93968497 93968497 single base substitution G A downstream_gene_variant UCEC-US 12 93968497 93968497 single base substitution G A splice_acceptor_variant UCEC-US 12 93968497 93968497 single base substitution G A upstream_gene_variant UCEC-US 12 93968645 93968645 single base substitution G A 3_prime_UTR_variant UCEC-US 12 93968645 93968645 single base substitution G A downstream_gene_variant UCEC-US 12 93968645 93968645 single base substitution G A missense_variant R96Q 287G>A UCEC-US 12 93968645 93968645 single base substitution G A upstream_gene_variant UCEC-US 12 93968650 93968650 single base substitution G A 3_prime_UTR_variant UCEC-US 12 93968650 93968650 single base substitution G A downstream_gene_variant UCEC-US 12 93968650 93968650 single base substitution G A missense_variant E98K 292G>A UCEC-US 12 93968650 93968650 single base substitution G A upstream_gene_variant UCEC-US 12 93968756 93968756 single base substitution G A 3_prime_UTR_variant UCEC-US 12 93968756 93968756 single base substitution G A downstream_gene_variant UCEC-US 12 93968756 93968756 single base substitution G A missense_variant C133Y 398G>A UCEC-US 12 93968756 93968756 single base substitution G A missense_variant C5Y 14G>A UCEC-US 12 93968756 93968756 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3503 COSM4728887 c.436G>A p.G146S Substitution - Missense 12:93575018-93575018 + TCGA-D1-A174-01 COSM944528 c.398G>A p.C133Y Substitution - Missense 12:93574980-93574980 + TCGA-BM-6198-01 COSM3417277 c.345G>A p.K115K Substitution - coding silent 12:93574927-93574927 + TCGA-AX-A05Z-01 COSM944527 c.292G>A p.E98K Substitution - Missense 12:93574874-93574874 + PD6410a COSM5785458 c.3G>A p.M1I Substitution - Missense 12:93572900-93572900 + LP6005500-DNA_B02 COSM5036679 c.431G>A p.R144Q Substitution - Missense 12:93575013-93575013 + TCGA-12-0615 COSM2045584 c.303C>T p.D101D Substitution - coding silent 12:93574885-93574885 + TCGA-BS-A0UV-01 COSM277418 c.287G>A p.R96Q Substitution - Missense 12:93574869-93574869 + TCGA-B5-A0JY-01 COSM944525 c.84G>T p.E28D Substitution - Missense 12:93572981-93572981 + T578 COSM4728885 c.228G>A p.S76S Substitution - coding silent 12:93574810-93574810 + HCT15 COSM2045590 c.479C>T p.A160V Substitution - Missense 12:93575061-93575061 + OSCC-GB_01060111 COSM4883174 c.526G>T p.G176C Substitution - Missense 12:93575108-93575108 + TCGA-56-6545-01 COSM695389 c.560T>A p.L187Q Substitution - Missense 12:93575142-93575142 + 970010 COSM1582843 c.286C>T p.R96* Substitution - Nonsense 12:93574868-93574868 + 4537_T COSM3955308 c.470A>G p.Y157C Substitution - Missense 12:93575052-93575052 + HCT8 COSM2045590 c.479C>T p.A160V Substitution - Missense 12:93575061-93575061 + 8035749 COSM4781584 c.287G>T p.R96L Substitution - Missense 12:93574869-93574869 + TCGA-BS-A0TC-01 COSM277418 c.287G>A p.R96Q Substitution - Missense 12:93574869-93574869 + TCGA-BR-4361-01 COSM4045433 c.304G>A p.G102R Substitution - Missense 12:93574886-93574886 + YUPER COSM1706033 c.551C>T p.P184L Substitution - Missense 12:93575133-93575133 + TCGA-12-0615-01 COSM2045584 c.303C>T p.D101D Substitution - coding silent 12:93574885-93574885 + T3021 COSM4728884 c.202G>T p.G68* Substitution - Nonsense 12:93574784-93574784 + 86564 COSM95257 c.154A>G p.S52G Substitution - Missense 12:93574736-93574736 + ICGC_MB81 COSM3764448 c.316T>G p.L106V Substitution - Missense 12:93574898-93574898 + S0080 COSM5036679 c.431G>A p.R144Q Substitution - Missense 12:93575013-93575013 + TCGA-FW-A3R5-06 COSM3872722 c.498C>T p.L166L Substitution - coding silent 12:93575080-93575080 + TCGA-D1-A17F-01 COSM944526 c.140-1G>A p.? Unknown 12:93574721-93574721 + T3094 COSM4728886 c.424_425insC p.R144fs*25 Insertion - Frameshift 12:93575006-93575007 + TCGA-DR-A0ZM-01 COSM459338 c.254C>G p.S85C Substitution - Missense 12:93574836-93574836 + 2521259 COSM5890741 c.140-3C>T p.? Unknown 12:93574719-93574719 + PET100T COSM4963618 c.417T>A p.G139G Substitution - coding silent 12:93574999-93574999 + T2269 COSM277419 c.379G>A p.D127N Substitution - Missense 12:93574961-93574961 + TCGA-AA-A00N-01 COSM277419 c.379G>A p.D127N Substitution - Missense 12:93574961-93574961 + TCGA-24-2280-01 COSM116078 c.215T>A p.I72N Substitution - Missense 12:93574797-93574797 + DLD1 COSM2045590 c.479C>T p.A160V Substitution - Missense 12:93575061-93575061 + TCGA-BS-A0TJ-01 COSM944529 c.465G>A p.P155P Substitution - coding silent 12:93575047-93575047 + TCGA-AA-A00N-01 COSM277418 c.287G>A p.R96Q Substitution - Missense 12:93574869-93574869 + TCGA-EK-A2RK-01 COSM4829005 c.233C>T p.S78L Substitution - Missense 12:93574815-93574815 + TCGA-BR-4361-01 COSM4045432 c.280A>G p.N94D Substitution - Missense 12:93574862-93574862 + S01366 COSM315490 c.499T>C p.C167R Substitution - Missense 12:93575081-93575081 + ITNET_0100_T COSM4963618 c.417T>A p.G139G Substitution - coding silent 12:93574999-93574999 + TCGA-DA-A1I7-06 COSM1706033 c.551C>T p.P184L Substitution - Missense 12:93575133-93575133 + TCGA-39-5021-01 COSM695390 c.534C>T p.I178I Substitution - coding silent 12:93575116-93575116 + T2197 COSM4728888 c.545C>A p.P182H Substitution - Missense 12:93575127-93575127 + TCGA-18-3415-01 COSM695391 c.358G>C p.D120H Substitution - Missense 12:93574940-93574940 + S01366 COSM315490 c.499T>C p.C167R Substitution - Missense 12:93575081-93575081 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.485572 12q 605117 2406244|CGAP|BC010399|A/C|non-coding||1550|Candidate Hs.737164;Hs.737165;Hs.737168;Hs.737169;Hs.737170;Hs.737171;Hs.737172;Hs.737173;Hs.737174;Hs.737175;Hs.737176;Hs.737177;Hs.737178;Hs.737179;Hs.737180;Hs.737181;Hs.737182;Hs.737183;Hs.737184;Hs.737185;Hs.737186;Hs.737187;Hs.737188;Hs.737189;Hs.737192;Hs.737193;Hs.737194;Hs.737195;Hs.737196;Hs.737197;Hs.737198;Hs.737199;Hs.737200;Hs.737202;Hs.737203;Hs.737204;Hs.737205;Hs.737206 12q 605117 2406244|CGAP|BC010399|A/C|non-coding||1550|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CC TT Missense p.P143S c.426_427delinsTT 12 93968784 CM C T IntronicSNV . c.1-1533C>T 12 93965141 MB C T Missense p.P184L c.551C>T 12 93968909 CM C T Missense p.S108F c.323C>T 12 93968681 LUAD C T Synonymous p.D101D c.303C>T 12 93968661 GBM C T Synonymous p.I178I c.534C>T 12 93968892 LUSC G A Missense p.C133Y c.398G>A 12 93968756 UCEC G A Missense p.R96Q c.287G>A 12 93968645 UCEC G A SpliceAcceptorSNV . c.140-1G>A 12 93968497 UCEC G C Missense p.D120H c.358G>C 12 93968716 LUSC T A Missense p.I72N c.215T>A 12 93968573 OV T A Missense p.L187Q c.560T>A 12 93968918 LUSC T C Missense p.C167R c.499T>C 12 93968857 SCLC T G Missense p.L106V c.316T>G 12 93968674 MB T G Synonymous p.L116L c.348T>G 12 93968706 LUAD