Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 6954905 6954905 + Silent SNP A A T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:6954905A>T c.855A>T c.(853-855)ctA>ctT p.L285L BLCA 12 6952187 6952187 + Silent SNP G G A TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr12:6952187G>A c.150G>A c.(148-150)acG>acA p.T50T BLCA 12 6952355 6952355 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr12:6952355C>T c.221C>T c.(220-222)tCg>tTg p.S74L BLCA 12 6952801 6952801 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:6952801C>G c.436C>G c.(436-438)Ctc>Gtc p.L146V BLCA 12 6953045 6953045 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:6953045C>T c.602C>T c.(601-603)tCg>tTg p.S201L BLCA 12 6954828 6954828 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr12:6954828G>A c.778G>A c.(778-780)Gag>Aag p.E260K BLCA 12 6954874 6954874 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr12:6954874C>G c.824C>G c.(823-825)tCc>tGc p.S275C BRCA 12 6952161 6952161 + Nonsense_Mutation SNP C C T TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 g.chr12:6952161C>T c.124C>T c.(124-126)Cga>Tga p.R42* BRCA 12 6952186 6952186 + Missense_Mutation SNP C C T TCGA-A2-A0YH-01A-11D-A10G-09 TCGA-A2-A0YH-10A-01D-A10G-09 g.chr12:6952186C>T c.149C>T c.(148-150)aCg>aTg p.T50M BRCA 12 6952645 6952645 + Missense_Mutation SNP G G A TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 g.chr12:6952645G>A c.386G>A c.(385-387)cGt>cAt p.R129H BRCA 12 6955960 6955960 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr12:6955960C>T c.921C>T c.(919-921)atC>atT p.I307I CESC 12 6950484 6950484 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 g.chr12:6950484G>A c.33G>A c.(31-33)gcG>gcA p.A11A CESC 12 6954849 6954849 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:6954849G>A c.799G>A c.(799-801)Gag>Aag p.E267K COAD 12 6950466 6950466 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:6950466G>A c.15G>A c.(13-15)gaG>gaA p.E5E COAD 12 6952161 6952161 + Nonsense_Mutation SNP C C T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr12:6952161C>T c.124C>T c.(124-126)Cga>Tga p.R42* COAD 12 6952178 6952178 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:6952178G>A c.141G>A c.(139-141)acG>acA p.T47T COAD 12 6952590 6952590 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6952590T>G c.331T>G c.(331-333)Ttt>Gtt p.F111V COAD 12 6952626 6952626 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:6952626A>G c.367A>G c.(367-369)Atc>Gtc p.I123V COAD 12 6953099 6953099 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:6953099G>A c.656G>A c.(655-657)cGt>cAt p.R219H COAD 12 6954898 6954898 + Missense_Mutation SNP G G A TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr12:6954898G>A c.848G>A c.(847-849)cGc>cAc p.R283H COAD 12 6954917 6954917 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:6954917C>T c.867C>T c.(865-867)taC>taT p.Y289Y COAD 12 6954960 6954960 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6954960C>T c.910C>T c.(910-912)Cgt>Tgt p.R304C COADREAD 12 6950466 6950466 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:6950466G>A c.15G>A c.(13-15)gaG>gaA p.E5E COADREAD 12 6952161 6952161 + Nonsense_Mutation SNP C C T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr12:6952161C>T c.124C>T c.(124-126)Cga>Tga p.R42* COADREAD 12 6952178 6952178 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:6952178G>A c.141G>A c.(139-141)acG>acA p.T47T COADREAD 12 6952590 6952590 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6952590T>G c.331T>G c.(331-333)Ttt>Gtt p.F111V COADREAD 12 6952626 6952626 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:6952626A>G c.367A>G c.(367-369)Atc>Gtc p.I123V COADREAD 12 6953099 6953099 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:6953099G>A c.656G>A c.(655-657)cGt>cAt p.R219H COADREAD 12 6954898 6954898 + Missense_Mutation SNP G G A TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr12:6954898G>A c.848G>A c.(847-849)cGc>cAc p.R283H COADREAD 12 6954917 6954917 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:6954917C>T c.867C>T c.(865-867)taC>taT p.Y289Y COADREAD 12 6954960 6954960 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6954960C>T c.910C>T c.(910-912)Cgt>Tgt p.R304C GBMLGG 12 6950780 6950780 + Missense_Mutation SNP C C G TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 g.chr12:6950780C>G c.88C>G c.(88-90)Ctg>Gtg p.L30V HNSC 12 6952179 6952179 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr12:6952179C>T c.142C>T c.(142-144)Cgg>Tgg p.R48W HNSC 12 6952355 6952355 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:6952355C>A c.221C>A c.(220-222)tCg>tAg p.S74* HNSC 12 6952678 6952678 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr12:6952678C>G c.419C>G c.(418-420)tCt>tGt p.S140C HNSC 12 6952860 6952860 + Silent SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr12:6952860G>A c.495G>A c.(493-495)acG>acA p.T165T HNSC 12 6954816 6954816 + Missense_Mutation SNP C C T TCGA-MT-A67G-01A-11D-A30E-08 TCGA-MT-A67G-10A-01D-A30H-08 g.chr12:6954816C>T c.766C>T c.(766-768)Cgg>Tgg p.R256W HNSC 12 6954826 6954826 + Missense_Mutation SNP A A G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 g.chr12:6954826A>G c.776A>G c.(775-777)cAg>cGg p.Q259R HNSC 12 6954844 6954844 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:6954844C>T c.794C>T c.(793-795)tCc>tTc p.S265F LGG 12 6950780 6950780 + Missense_Mutation SNP C C G TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 g.chr12:6950780C>G c.88C>G c.(88-90)Ctg>Gtg p.L30V LUAD 12 6952162 6952162 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr12:6952162G>A c.125G>A c.(124-126)cGa>cAa p.R42Q LUAD 12 6952582 6952582 + Missense_Mutation SNP C C T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr12:6952582C>T c.323C>T c.(322-324)tCa>tTa p.S108L LUAD 12 6952808 6952808 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:6952808G>T c.443G>T c.(442-444)tGc>tTc p.C148F LUAD 12 6953051 6953051 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr12:6953051C>T c.608C>T c.(607-609)gCc>gTc p.A203V LUAD 12 6953059 6953059 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-11A-01D-2063-08 g.chr12:6953059G>T c.616G>T c.(616-618)Gcc>Tcc p.A206S LUSC 12 6950762 6950762 + Missense_Mutation SNP G G C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr12:6950762G>C c.70G>C c.(70-72)Gcc>Ccc p.A24P LUSC 12 6952169 6952169 + Silent SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr12:6952169G>A c.132G>A c.(130-132)caG>caA p.Q44Q LUSC 12 6952794 6952794 + Splice_Site SNP A A T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr12:6952794A>T c.e8-1 LUSC 12 6954923 6954923 + Silent SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr12:6954923C>T c.873C>T c.(871-873)gaC>gaT p.D291D PAAD 12 6952186 6952186 + Missense_Mutation SNP C C T TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr12:6952186C>T c.149C>T c.(148-150)aCg>aTg p.T50M PAAD 12 6952223 6952223 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6952223C>A c.186C>A c.(184-186)caC>caA p.H62Q PCPG 12 6954872 6954872 + Silent SNP G G T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 g.chr12:6954872G>T c.822G>T c.(820-822)acG>acT p.T274T PRAD 12 6950751 6950751 + Splice_Site SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 g.chr12:6950751A>G c.59A>G c.(58-60)gAt>gGt p.D20G PRAD 12 6954960 6954960 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:6954960C>T c.910C>T c.(910-912)Cgt>Tgt p.R304C SKCM 12 6950463 6950463 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:6950463G>A c.12G>A c.(10-12)atG>atA p.M4I SKCM 12 6952194 6952194 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:6952194G>A c.157G>A c.(157-159)Gga>Aga p.G53R SKCM 12 6952642 6952642 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:6952642C>T c.383C>T c.(382-384)tCc>tTc p.S128F SKCM 12 6953077 6953077 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:6953077G>A c.634G>A c.(634-636)Gat>Aat p.D212N SKCM 12 6953089 6953089 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:6953089G>A c.646G>A c.(646-648)Ggg>Agg p.G216R SKCM 12 6953123 6953123 + Missense_Mutation SNP C C G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr12:6953123C>G c.680C>G c.(679-681)tCg>tGg p.S227W SKCM 12 6954844 6954844 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr12:6954844C>T c.794C>T c.(793-795)tCc>tTc p.S265F SKCM 12 6956008 6956008 + Silent SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr12:6956008C>T c.969C>T c.(967-969)gaC>gaT p.D323D

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 12 6948245 6948245 single base substitution C T upstream_gene_variant BLCA-US 12 6952355 6952355 single base substitution C T 3_prime_UTR_variant BLCA-US 12 6952355 6952355 single base substitution C T downstream_gene_variant BLCA-US 12 6952355 6952355 single base substitution C T exon_variant BLCA-US 12 6952355 6952355 single base substitution C T missense_variant S74L 221C>T BLCA-US 12 6952355 6952355 single base substitution C T upstream_gene_variant BLCA-US 12 6954828 6954828 single base substitution G A downstream_gene_variant BLCA-US 12 6954828 6954828 single base substitution G A exon_variant BLCA-US 12 6954828 6954828 single base substitution G A missense_variant E219K 655G>A BLCA-US 12 6954828 6954828 single base substitution G A missense_variant E259K 775G>A BLCA-US 12 6954828 6954828 single base substitution G A missense_variant E260K 778G>A BLCA-US 12 6954874 6954874 single base substitution C G downstream_gene_variant BLCA-US 12 6954874 6954874 single base substitution C G exon_variant BLCA-US 12 6954874 6954874 single base substitution C G missense_variant S234C 701C>G BLCA-US 12 6954874 6954874 single base substitution C G missense_variant S274C 821C>G BLCA-US 12 6954874 6954874 single base substitution C G missense_variant S275C 824C>G BLCA-US 12 6958994 6958994 single base substitution C T downstream_gene_variant BLCA-US 12 6959647 6959647 single base substitution C T downstream_gene_variant BRCA-EU 12 6945264 6945264 single base substitution T C upstream_gene_variant BRCA-EU 12 6945758 6945758 deletion of <=200bp G - upstream_gene_variant BRCA-EU 12 6946189 6946189 single base substitution G A upstream_gene_variant BRCA-EU 12 6946361 6946361 single base substitution G A upstream_gene_variant BRCA-EU 12 6946955 6946955 single base substitution G T upstream_gene_variant BRCA-EU 12 6947760 6947760 single base substitution G T upstream_gene_variant BRCA-EU 12 6948454 6948454 single base substitution A T upstream_gene_variant BRCA-EU 12 6951552 6951552 insertion of <=200bp - A intron_variant BRCA-EU 12 6951552 6951552 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 6951775 6951775 single base substitution C T intron_variant BRCA-EU 12 6951775 6951775 single base substitution C T upstream_gene_variant BRCA-EU 12 6952112 6952112 single base substitution T G intron_variant BRCA-EU 12 6952112 6952112 single base substitution T G upstream_gene_variant BRCA-EU 12 6952590 6952590 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 6952590 6952590 single base substitution T A downstream_gene_variant BRCA-EU 12 6952590 6952590 single base substitution T A exon_variant BRCA-EU 12 6952590 6952590 single base substitution T A missense_variant F111I 331T>A BRCA-EU 12 6952590 6952590 single base substitution T A upstream_gene_variant BRCA-EU 12 6954133 6954133 single base substitution C A downstream_gene_variant BRCA-EU 12 6954133 6954133 single base substitution C A intron_variant BRCA-EU 12 6954133 6954133 single base substitution C A upstream_gene_variant BRCA-EU 12 6954272 6954272 single base substitution T A downstream_gene_variant BRCA-EU 12 6954272 6954272 single base substitution T A intron_variant BRCA-EU 12 6954272 6954272 single base substitution T A upstream_gene_variant BRCA-EU 12 6954511 6954511 single base substitution G A downstream_gene_variant BRCA-EU 12 6954511 6954511 single base substitution G A intron_variant BRCA-EU 12 6954511 6954511 single base substitution G A upstream_gene_variant BRCA-EU 12 6954739 6954739 single base substitution C A downstream_gene_variant BRCA-EU 12 6954739 6954739 single base substitution C A exon_variant BRCA-EU 12 6954739 6954739 single base substitution C A intron_variant BRCA-EU 12 6955219 6955219 single base substitution C T downstream_gene_variant BRCA-EU 12 6955219 6955219 single base substitution C T intron_variant BRCA-EU 12 6955510 6955510 single base substitution C A downstream_gene_variant BRCA-EU 12 6955510 6955510 single base substitution C A intron_variant BRCA-EU 12 6957247 6957247 single base substitution C T downstream_gene_variant BRCA-EU 12 6957784 6957784 single base substitution G C downstream_gene_variant BRCA-EU 12 6958174 6958174 single base substitution C A downstream_gene_variant BRCA-EU 12 6959444 6959444 single base substitution C T downstream_gene_variant BRCA-EU 12 6960377 6960377 single base substitution A T downstream_gene_variant BRCA-EU 12 6960586 6960586 single base substitution T G downstream_gene_variant BRCA-EU 12 6961357 6961357 single base substitution G C downstream_gene_variant BRCA-FR 12 6948454 6948454 single base substitution A T upstream_gene_variant BRCA-FR 12 6951775 6951775 single base substitution C T intron_variant BRCA-FR 12 6951775 6951775 single base substitution C T upstream_gene_variant BRCA-FR 12 6952590 6952590 single base substitution T A 3_prime_UTR_variant BRCA-FR 12 6952590 6952590 single base substitution T A downstream_gene_variant BRCA-FR 12 6952590 6952590 single base substitution T A exon_variant BRCA-FR 12 6952590 6952590 single base substitution T A missense_variant F111I 331T>A BRCA-FR 12 6952590 6952590 single base substitution T A upstream_gene_variant BRCA-KR 12 6946183 6946183 single base substitution G A upstream_gene_variant BRCA-US 12 6947182 6947182 single base substitution C T upstream_gene_variant BRCA-US 12 6948564 6948564 single base substitution G A upstream_gene_variant BRCA-US 12 6952161 6952161 single base substitution C T 3_prime_UTR_variant BRCA-US 12 6952161 6952161 single base substitution C T exon_variant BRCA-US 12 6952161 6952161 single base substitution C T stop_gained R42* 124C>T BRCA-US 12 6952161 6952161 single base substitution C T upstream_gene_variant BRCA-US 12 6952186 6952186 single base substitution C T 3_prime_UTR_variant BRCA-US 12 6952186 6952186 single base substitution C T downstream_gene_variant BRCA-US 12 6952186 6952186 single base substitution C T exon_variant BRCA-US 12 6952186 6952186 single base substitution C T missense_variant T50M 149C>T BRCA-US 12 6952186 6952186 single base substitution C T upstream_gene_variant BRCA-US 12 6955960 6955960 single base substitution C T downstream_gene_variant BRCA-US 12 6955960 6955960 single base substitution C T exon_variant BRCA-US 12 6955960 6955960 single base substitution C T synonymous_variant I306I 918C>T BRCA-US 12 6955960 6955960 single base substitution C T synonymous_variant I307I 921C>T BRCA-US 12 6958719 6958719 single base substitution G T downstream_gene_variant BRCA-US 12 6958758 6958758 single base substitution G A downstream_gene_variant BRCA-US 12 6961446 6961446 single base substitution G A downstream_gene_variant BTCA-JP 12 6945978 6945978 single base substitution C T upstream_gene_variant BTCA-JP 12 6947209 6947209 deletion of <=200bp G - upstream_gene_variant BTCA-JP 12 6950752 6950752 single base substitution T C exon_variant BTCA-JP 12 6950752 6950752 single base substitution T C splice_region_variant BTCA-JP 12 6950752 6950752 single base substitution T C upstream_gene_variant BTCA-JP 12 6951014 6951014 single base substitution G C 3_prime_UTR_variant BTCA-JP 12 6951014 6951014 single base substitution G C intron_variant BTCA-JP 12 6951014 6951014 single base substitution G C upstream_gene_variant BTCA-JP 12 6952173 6952173 single base substitution C T 3_prime_UTR_variant BTCA-JP 12 6952173 6952173 single base substitution C T downstream_gene_variant BTCA-JP 12 6952173 6952173 single base substitution C T exon_variant BTCA-JP 12 6952173 6952173 single base substitution C T missense_variant R46W 136C>T BTCA-JP 12 6952173 6952173 single base substitution C T upstream_gene_variant BTCA-JP 12 6952452 6952452 single base substitution G A downstream_gene_variant BTCA-JP 12 6952452 6952452 single base substitution G A intron_variant BTCA-JP 12 6952452 6952452 single base substitution G A upstream_gene_variant BTCA-JP 12 6954973 6954973 single base substitution G A downstream_gene_variant BTCA-JP 12 6954973 6954973 single base substitution G A intron_variant BTCA-JP 12 6954973 6954973 single base substitution G A splice_region_variant BTCA-JP 12 6955852 6955852 single base substitution T C downstream_gene_variant BTCA-JP 12 6955852 6955852 single base substitution T C intron_variant BTCA-JP 12 6960141 6960141 single base substitution G A downstream_gene_variant CESC-US 12 6948234 6948234 single base substitution G A upstream_gene_variant CESC-US 12 6948853 6948853 single base substitution G A upstream_gene_variant CESC-US 12 6950484 6950484 single base substitution G A exon_variant CESC-US 12 6950484 6950484 single base substitution G A synonymous_variant A11A 33G>A CESC-US 12 6950484 6950484 single base substitution G A upstream_gene_variant CESC-US 12 6954849 6954849 single base substitution G A downstream_gene_variant CESC-US 12 6954849 6954849 single base substitution G A exon_variant CESC-US 12 6954849 6954849 single base substitution G A missense_variant E226K 676G>A CESC-US 12 6954849 6954849 single base substitution G A missense_variant E266K 796G>A CESC-US 12 6954849 6954849 single base substitution G A missense_variant E267K 799G>A CESC-US 12 6958094 6958094 single base substitution G A downstream_gene_variant CESC-US 12 6958994 6958994 single base substitution C G downstream_gene_variant COAD-US 12 6950466 6950466 single base substitution G A exon_variant COAD-US 12 6950466 6950466 single base substitution G A synonymous_variant E5E 15G>A COAD-US 12 6950466 6950466 single base substitution G A upstream_gene_variant COAD-US 12 6950768 6950768 single base substitution G A exon_variant COAD-US 12 6950768 6950768 single base substitution G A missense_variant A26T 76G>A COAD-US 12 6950768 6950768 single base substitution G A upstream_gene_variant COAD-US 12 6952626 6952626 single base substitution A G 3_prime_UTR_variant COAD-US 12 6952626 6952626 single base substitution A G downstream_gene_variant COAD-US 12 6952626 6952626 single base substitution A G exon_variant COAD-US 12 6952626 6952626 single base substitution A G missense_variant I123V 367A>G COAD-US 12 6952626 6952626 single base substitution A G upstream_gene_variant COAD-US 12 6954875 6954875 single base substitution C T downstream_gene_variant COAD-US 12 6954875 6954875 single base substitution C T exon_variant COAD-US 12 6954875 6954875 single base substitution C T synonymous_variant S234S 702C>T COAD-US 12 6954875 6954875 single base substitution C T synonymous_variant S274S 822C>T COAD-US 12 6954875 6954875 single base substitution C T synonymous_variant S275S 825C>T COAD-US 12 6954898 6954898 single base substitution G A downstream_gene_variant COAD-US 12 6954898 6954898 single base substitution G A exon_variant COAD-US 12 6954898 6954898 single base substitution G A missense_variant R242H 725G>A COAD-US 12 6954898 6954898 single base substitution G A missense_variant R282H 845G>A COAD-US 12 6954898 6954898 single base substitution G A missense_variant R283H 848G>A COAD-US 12 6954960 6954960 single base substitution C T downstream_gene_variant COAD-US 12 6954960 6954960 single base substitution C T exon_variant COAD-US 12 6954960 6954960 single base substitution C T missense_variant R263C 787C>T COAD-US 12 6954960 6954960 single base substitution C T missense_variant R303C 907C>T COAD-US 12 6954960 6954960 single base substitution C T missense_variant R304C 910C>T COCA-CN 12 6945799 6945799 single base substitution G A upstream_gene_variant COCA-CN 12 6946192 6946192 single base substitution G A upstream_gene_variant COCA-CN 12 6946317 6946317 single base substitution G A upstream_gene_variant COCA-CN 12 6948028 6948028 single base substitution T G upstream_gene_variant COCA-CN 12 6948479 6948479 single base substitution G T upstream_gene_variant COCA-CN 12 6952394 6952394 single base substitution C A 3_prime_UTR_variant COCA-CN 12 6952394 6952394 single base substitution C A downstream_gene_variant COCA-CN 12 6952394 6952394 single base substitution C A exon_variant COCA-CN 12 6952394 6952394 single base substitution C A missense_variant T87N 260C>A COCA-CN 12 6952394 6952394 single base substitution C A upstream_gene_variant COCA-CN 12 6952563 6952563 single base substitution A G 3_prime_UTR_variant COCA-CN 12 6952563 6952563 single base substitution A G downstream_gene_variant COCA-CN 12 6952563 6952563 single base substitution A G exon_variant COCA-CN 12 6952563 6952563 single base substitution A G missense_variant T102A 304A>G COCA-CN 12 6952563 6952563 single base substitution A G upstream_gene_variant COCA-CN 12 6952752 6952752 single base substitution C T downstream_gene_variant COCA-CN 12 6952752 6952752 single base substitution C T intron_variant COCA-CN 12 6952752 6952752 single base substitution C T upstream_gene_variant COCA-CN 12 6953045 6953045 single base substitution C T downstream_gene_variant COCA-CN 12 6953045 6953045 single base substitution C T exon_variant COCA-CN 12 6953045 6953045 single base substitution C T intron_variant COCA-CN 12 6953045 6953045 single base substitution C T missense_variant S200L 599C>T COCA-CN 12 6953045 6953045 single base substitution C T missense_variant S201L 602C>T COCA-CN 12 6953045 6953045 single base substitution C T upstream_gene_variant COCA-CN 12 6954876 6954876 single base substitution G A downstream_gene_variant COCA-CN 12 6954876 6954876 single base substitution G A exon_variant COCA-CN 12 6954876 6954876 single base substitution G A missense_variant V235M 703G>A COCA-CN 12 6954876 6954876 single base substitution G A missense_variant V275M 823G>A COCA-CN 12 6954876 6954876 single base substitution G A missense_variant V276M 826G>A COCA-CN 12 6956008 6956008 single base substitution C T downstream_gene_variant COCA-CN 12 6956008 6956008 single base substitution C T exon_variant COCA-CN 12 6956008 6956008 single base substitution C T synonymous_variant D322D 966C>T COCA-CN 12 6956008 6956008 single base substitution C T synonymous_variant D323D 969C>T COCA-CN 12 6958755 6958755 single base substitution C A downstream_gene_variant COCA-CN 12 6958810 6958810 single base substitution C A downstream_gene_variant COCA-CN 12 6959115 6959115 single base substitution A T downstream_gene_variant EOPC-DE 12 6949149 6949149 single base substitution C A exon_variant EOPC-DE 12 6949149 6949149 single base substitution C A upstream_gene_variant EOPC-DE 12 6955030 6955030 single base substitution A C downstream_gene_variant EOPC-DE 12 6955030 6955030 single base substitution A C intron_variant ESAD-UK 12 6945484 6945484 single base substitution A T upstream_gene_variant ESAD-UK 12 6945529 6945529 single base substitution A G upstream_gene_variant ESAD-UK 12 6947688 6947688 single base substitution A G upstream_gene_variant ESAD-UK 12 6948005 6948005 single base substitution C A upstream_gene_variant ESAD-UK 12 6948208 6948208 single base substitution C T upstream_gene_variant ESAD-UK 12 6949441 6949441 single base substitution T G 5_prime_UTR_variant ESAD-UK 12 6949441 6949441 single base substitution T G exon_variant ESAD-UK 12 6949441 6949441 single base substitution T G upstream_gene_variant ESAD-UK 12 6950272 6950272 single base substitution C T exon_variant ESAD-UK 12 6950272 6950272 single base substitution C T intron_variant ESAD-UK 12 6950272 6950272 single base substitution C T upstream_gene_variant ESAD-UK 12 6952095 6952095 single base substitution A G intron_variant ESAD-UK 12 6952095 6952095 single base substitution A G upstream_gene_variant ESAD-UK 12 6955235 6955235 single base substitution A T downstream_gene_variant ESAD-UK 12 6955235 6955235 single base substitution A T intron_variant ESAD-UK 12 6957070 6957070 single base substitution G A downstream_gene_variant ESAD-UK 12 6957604 6957604 single base substitution G A downstream_gene_variant ESAD-UK 12 6961356 6961356 single base substitution A G downstream_gene_variant ESCA-CN 12 6946545 6946545 single base substitution C A upstream_gene_variant ESCA-CN 12 6956462 6956462 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 6956462 6956462 single base substitution C T downstream_gene_variant ESCA-CN 12 6956462 6956462 single base substitution C T exon_variant ESCA-CN 12 6959682 6959682 single base substitution G A downstream_gene_variant GBM-US 12 6946911 6946911 single base substitution G A upstream_gene_variant GBM-US 12 6946946 6946946 single base substitution T A upstream_gene_variant GBM-US 12 6959664 6959664 single base substitution T C downstream_gene_variant LICA-CN 12 6958769 6958769 single base substitution G A downstream_gene_variant LICA-FR 12 6948280 6948280 single base substitution G A upstream_gene_variant LICA-FR 12 6951071 6951071 single base substitution A C intron_variant LICA-FR 12 6951071 6951071 single base substitution A C splice_region_variant LICA-FR 12 6951071 6951071 single base substitution A C upstream_gene_variant LINC-JP 12 6946590 6946590 single base substitution G T upstream_gene_variant LINC-JP 12 6947140 6947140 single base substitution C T upstream_gene_variant LINC-JP 12 6948435 6948435 single base substitution G A upstream_gene_variant LINC-JP 12 6951129 6951129 single base substitution C T intron_variant LINC-JP 12 6951129 6951129 single base substitution C T upstream_gene_variant LINC-JP 12 6952089 6952089 single base substitution C A intron_variant LINC-JP 12 6952089 6952089 single base substitution C A upstream_gene_variant LINC-JP 12 6958874 6958874 single base substitution C T downstream_gene_variant LIRI-JP 12 6944558 6944558 single base substitution C T upstream_gene_variant LIRI-JP 12 6946344 6946344 single base substitution G A upstream_gene_variant LIRI-JP 12 6947645 6947645 single base substitution T C upstream_gene_variant LIRI-JP 12 6949380 6949380 single base substitution A G 5_prime_UTR_variant LIRI-JP 12 6949380 6949380 single base substitution A G exon_variant LIRI-JP 12 6949380 6949380 single base substitution A G upstream_gene_variant LIRI-JP 12 6954536 6954536 single base substitution C T downstream_gene_variant LIRI-JP 12 6954536 6954536 single base substitution C T exon_variant LIRI-JP 12 6954536 6954536 single base substitution C T intron_variant LIRI-JP 12 6955563 6955563 single base substitution C A downstream_gene_variant LIRI-JP 12 6955563 6955563 single base substitution C A intron_variant LIRI-JP 12 6958216 6958216 single base substitution C T downstream_gene_variant LUSC-KR 12 6948468 6948468 single base substitution T C upstream_gene_variant LUSC-KR 12 6950992 6950992 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 6950992 6950992 single base substitution C G intron_variant LUSC-KR 12 6950992 6950992 single base substitution C G upstream_gene_variant LUSC-KR 12 6956462 6956462 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 6956462 6956462 single base substitution C T downstream_gene_variant LUSC-KR 12 6956462 6956462 single base substitution C T exon_variant LUSC-KR 12 6958491 6958491 single base substitution C T downstream_gene_variant LUSC-KR 12 6959969 6959969 single base substitution C G downstream_gene_variant LUSC-US 12 6947151 6947151 single base substitution A G upstream_gene_variant LUSC-US 12 6950762 6950762 single base substitution G C exon_variant LUSC-US 12 6950762 6950762 single base substitution G C missense_variant A24P 70G>C LUSC-US 12 6950762 6950762 single base substitution G C upstream_gene_variant LUSC-US 12 6952169 6952169 single base substitution G A 3_prime_UTR_variant LUSC-US 12 6952169 6952169 single base substitution G A downstream_gene_variant LUSC-US 12 6952169 6952169 single base substitution G A exon_variant LUSC-US 12 6952169 6952169 single base substitution G A synonymous_variant Q44Q 132G>A LUSC-US 12 6952169 6952169 single base substitution G A upstream_gene_variant LUSC-US 12 6952794 6952794 single base substitution A T downstream_gene_variant LUSC-US 12 6952794 6952794 single base substitution A T splice_acceptor_variant LUSC-US 12 6952794 6952794 single base substitution A T upstream_gene_variant LUSC-US 12 6954923 6954923 single base substitution C T downstream_gene_variant LUSC-US 12 6954923 6954923 single base substitution C T exon_variant LUSC-US 12 6954923 6954923 single base substitution C T synonymous_variant D250D 750C>T LUSC-US 12 6954923 6954923 single base substitution C T synonymous_variant D290D 870C>T LUSC-US 12 6954923 6954923 single base substitution C T synonymous_variant D291D 873C>T MALY-DE 12 6949741 6949741 single base substitution C T exon_variant MALY-DE 12 6949741 6949741 single base substitution C T intron_variant MALY-DE 12 6949741 6949741 single base substitution C T upstream_gene_variant MALY-DE 12 6950692 6950692 single base substitution C T exon_variant MALY-DE 12 6950692 6950692 single base substitution C T intron_variant MALY-DE 12 6950692 6950692 single base substitution C T upstream_gene_variant MALY-DE 12 6961384 6961384 single base substitution C T downstream_gene_variant MELA-AU 12 6944209 6944209 single base substitution G A upstream_gene_variant MELA-AU 12 6944853 6944853 single base substitution G A upstream_gene_variant MELA-AU 12 6945432 6945432 single base substitution G A upstream_gene_variant MELA-AU 12 6945537 6945537 single base substitution G A upstream_gene_variant MELA-AU 12 6945866 6945866 single base substitution C T upstream_gene_variant MELA-AU 12 6945922 6945922 single base substitution C T upstream_gene_variant MELA-AU 12 6946080 6946080 single base substitution G A upstream_gene_variant MELA-AU 12 6946140 6946140 single base substitution C T upstream_gene_variant MELA-AU 12 6946232 6946232 single base substitution G A upstream_gene_variant MELA-AU 12 6946284 6946284 single base substitution C T upstream_gene_variant MELA-AU 12 6946322 6946322 single base substitution C T upstream_gene_variant MELA-AU 12 6946438 6946438 single base substitution G A upstream_gene_variant MELA-AU 12 6946687 6946687 single base substitution G A upstream_gene_variant MELA-AU 12 6946809 6946809 single base substitution C T upstream_gene_variant MELA-AU 12 6947543 6947543 single base substitution G A upstream_gene_variant MELA-AU 12 6947724 6947724 single base substitution C T upstream_gene_variant MELA-AU 12 6947819 6947819 single base substitution T G upstream_gene_variant MELA-AU 12 6947922 6947922 single base substitution A G upstream_gene_variant MELA-AU 12 6947952 6947952 single base substitution C T upstream_gene_variant MELA-AU 12 6947962 6947962 single base substitution C T upstream_gene_variant MELA-AU 12 6948025 6948025 single base substitution C T upstream_gene_variant MELA-AU 12 6948335 6948335 single base substitution C T upstream_gene_variant MELA-AU 12 6948702 6948702 single base substitution C T upstream_gene_variant MELA-AU 12 6948743 6948743 single base substitution C T upstream_gene_variant MELA-AU 12 6948868 6948868 single base substitution G A upstream_gene_variant MELA-AU 12 6948933 6948933 single base substitution G A upstream_gene_variant MELA-AU 12 6949144 6949144 single base substitution G A exon_variant MELA-AU 12 6949144 6949144 single base substitution G A upstream_gene_variant MELA-AU 12 6949178 6949178 single base substitution A C exon_variant MELA-AU 12 6949178 6949178 single base substitution A C upstream_gene_variant MELA-AU 12 6949447 6949447 single base substitution C T 5_prime_UTR_variant MELA-AU 12 6949447 6949447 single base substitution C T exon_variant MELA-AU 12 6949447 6949447 single base substitution C T upstream_gene_variant MELA-AU 12 6950099 6950099 single base substitution G A 5_prime_UTR_variant MELA-AU 12 6950099 6950099 single base substitution G A exon_variant MELA-AU 12 6950099 6950099 single base substitution G A intron_variant MELA-AU 12 6950099 6950099 single base substitution G A upstream_gene_variant MELA-AU 12 6950553 6950553 single base substitution G A exon_variant MELA-AU 12 6950553 6950553 single base substitution G A intron_variant MELA-AU 12 6950553 6950553 single base substitution G A upstream_gene_variant MELA-AU 12 6950595 6950595 single base substitution C T exon_variant MELA-AU 12 6950595 6950595 single base substitution C T intron_variant MELA-AU 12 6950595 6950595 single base substitution C T upstream_gene_variant MELA-AU 12 6950617 6950617 single base substitution G A exon_variant MELA-AU 12 6950617 6950617 single base substitution G A intron_variant MELA-AU 12 6950617 6950617 single base substitution G A upstream_gene_variant MELA-AU 12 6951403 6951403 single base substitution G A intron_variant MELA-AU 12 6951403 6951403 single base substitution G A upstream_gene_variant MELA-AU 12 6952027 6952027 single base substitution G A intron_variant MELA-AU 12 6952027 6952027 single base substitution G A upstream_gene_variant MELA-AU 12 6952243 6952243 single base substitution G A downstream_gene_variant MELA-AU 12 6952243 6952243 single base substitution G A splice_region_variant MELA-AU 12 6952243 6952243 single base substitution G A upstream_gene_variant MELA-AU 12 6953123 6953123 single base substitution C T downstream_gene_variant MELA-AU 12 6953123 6953123 single base substitution C T exon_variant MELA-AU 12 6953123 6953123 single base substitution C T missense_variant S186L 557C>T MELA-AU 12 6953123 6953123 single base substitution C T missense_variant S226L 677C>T MELA-AU 12 6953123 6953123 single base substitution C T missense_variant S227L 680C>T MELA-AU 12 6953123 6953123 single base substitution C T upstream_gene_variant MELA-AU 12 6953369 6953369 single base substitution A G downstream_gene_variant MELA-AU 12 6953369 6953369 single base substitution A G intron_variant MELA-AU 12 6953369 6953369 single base substitution A G upstream_gene_variant MELA-AU 12 6953401 6953401 single base substitution G A downstream_gene_variant MELA-AU 12 6953401 6953401 single base substitution G A intron_variant MELA-AU 12 6953401 6953401 single base substitution G A upstream_gene_variant MELA-AU 12 6953634 6953634 single base substitution G A downstream_gene_variant MELA-AU 12 6953634 6953634 single base substitution G A intron_variant MELA-AU 12 6953634 6953634 single base substitution G A upstream_gene_variant MELA-AU 12 6953706 6953706 single base substitution C T downstream_gene_variant MELA-AU 12 6953706 6953706 single base substitution C T intron_variant MELA-AU 12 6953706 6953706 single base substitution C T upstream_gene_variant MELA-AU 12 6954032 6954032 single base substitution G A downstream_gene_variant MELA-AU 12 6954032 6954032 single base substitution G A intron_variant MELA-AU 12 6954032 6954032 single base substitution G A upstream_gene_variant MELA-AU 12 6954993 6954993 single base substitution C T downstream_gene_variant MELA-AU 12 6954993 6954993 single base substitution C T intron_variant MELA-AU 12 6955134 6955134 single base substitution G A downstream_gene_variant MELA-AU 12 6955134 6955134 single base substitution G A intron_variant MELA-AU 12 6955259 6955259 single base substitution G A downstream_gene_variant MELA-AU 12 6955259 6955259 single base substitution G A intron_variant MELA-AU 12 6955568 6955568 single base substitution C T downstream_gene_variant MELA-AU 12 6955568 6955568 single base substitution C T intron_variant MELA-AU 12 6955861 6955861 single base substitution A C downstream_gene_variant MELA-AU 12 6955861 6955861 single base substitution A C intron_variant MELA-AU 12 6955865 6955865 single base substitution C A downstream_gene_variant MELA-AU 12 6955865 6955865 single base substitution C A intron_variant MELA-AU 12 6956476 6956476 single base substitution C T 3_prime_UTR_variant MELA-AU 12 6956476 6956476 single base substitution C T downstream_gene_variant MELA-AU 12 6956476 6956476 single base substitution C T exon_variant MELA-AU 12 6958703 6958703 single base substitution C T downstream_gene_variant MELA-AU 12 6959146 6959146 single base substitution G A downstream_gene_variant MELA-AU 12 6959157 6959157 single base substitution G A downstream_gene_variant MELA-AU 12 6959159 6959159 single base substitution A G downstream_gene_variant MELA-AU 12 6959832 6959832 single base substitution G A downstream_gene_variant MELA-AU 12 6959886 6959886 single base substitution G A downstream_gene_variant MELA-AU 12 6960283 6960283 single base substitution C T downstream_gene_variant MELA-AU 12 6960462 6960462 single base substitution C T downstream_gene_variant MELA-AU 12 6960504 6960504 single base substitution C T downstream_gene_variant MELA-AU 12 6961109 6961109 single base substitution G A downstream_gene_variant MELA-AU 12 6961546 6961546 single base substitution C T downstream_gene_variant ORCA-IN 12 6946686 6946686 single base substitution C T upstream_gene_variant OV-AU 12 6948297 6948297 single base substitution G C upstream_gene_variant OV-AU 12 6949999 6949999 single base substitution T G 5_prime_UTR_variant OV-AU 12 6949999 6949999 single base substitution T G exon_variant OV-AU 12 6949999 6949999 single base substitution T G intron_variant OV-AU 12 6949999 6949999 single base substitution T G upstream_gene_variant OV-AU 12 6950527 6950527 single base substitution C A exon_variant OV-AU 12 6950527 6950527 single base substitution C A intron_variant OV-AU 12 6950527 6950527 single base substitution C A upstream_gene_variant OV-AU 12 6956730 6956730 single base substitution G T downstream_gene_variant OV-AU 12 6959906 6959906 single base substitution G A downstream_gene_variant OV-AU 12 6960623 6960623 single base substitution G T downstream_gene_variant PACA-AU 12 6948470 6948470 single base substitution G T upstream_gene_variant PACA-AU 12 6949297 6949297 single base substitution G A exon_variant PACA-AU 12 6949297 6949297 single base substitution G A upstream_gene_variant PACA-AU 12 6950399 6950399 single base substitution C A exon_variant PACA-AU 12 6950399 6950399 single base substitution C A intron_variant PACA-AU 12 6950399 6950399 single base substitution C A upstream_gene_variant PACA-AU 12 6954526 6954526 single base substitution G A downstream_gene_variant PACA-AU 12 6954526 6954526 single base substitution G A intron_variant PACA-AU 12 6954526 6954526 single base substitution G A upstream_gene_variant PACA-AU 12 6954702 6954702 deletion of <=200bp G - downstream_gene_variant PACA-AU 12 6954702 6954702 deletion of <=200bp G - exon_variant PACA-AU 12 6954702 6954702 deletion of <=200bp G - intron_variant PACA-AU 12 6954705 6954705 single base substitution C T downstream_gene_variant PACA-AU 12 6954705 6954705 single base substitution C T exon_variant PACA-AU 12 6954705 6954705 single base substitution C T intron_variant PACA-CA 12 6945226 6945226 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 6946041 6946041 single base substitution G A upstream_gene_variant PACA-CA 12 6947202 6947202 single base substitution G A upstream_gene_variant PACA-CA 12 6948541 6948541 single base substitution C T upstream_gene_variant PACA-CA 12 6949372 6949372 single base substitution C T exon_variant PACA-CA 12 6949372 6949372 single base substitution C T upstream_gene_variant PACA-CA 12 6953060 6953060 deletion of <=200bp C - downstream_gene_variant PACA-CA 12 6953060 6953060 deletion of <=200bp C - exon_variant PACA-CA 12 6953060 6953060 deletion of <=200bp C - frameshift_variant A205 PACA-CA 12 6953060 6953060 deletion of <=200bp C - frameshift_variant A206 PACA-CA 12 6953060 6953060 deletion of <=200bp C - splice_region_variant PACA-CA 12 6953060 6953060 deletion of <=200bp C - upstream_gene_variant PACA-CA 12 6954034 6954034 single base substitution A G downstream_gene_variant PACA-CA 12 6954034 6954034 single base substitution A G intron_variant PACA-CA 12 6954034 6954034 single base substitution A G upstream_gene_variant PACA-CA 12 6954800 6954800 single base substitution C T downstream_gene_variant PACA-CA 12 6954800 6954800 single base substitution C T exon_variant PACA-CA 12 6954800 6954800 single base substitution C T synonymous_variant C209C 627C>T PACA-CA 12 6954800 6954800 single base substitution C T synonymous_variant C249C 747C>T PACA-CA 12 6954800 6954800 single base substitution C T synonymous_variant C250C 750C>T PACA-CA 12 6956133 6956133 single base substitution C T 3_prime_UTR_variant PACA-CA 12 6956133 6956133 single base substitution C T downstream_gene_variant PACA-CA 12 6956133 6956133 single base substitution C T exon_variant PACA-CA 12 6956619 6956621 deletion of <=200bp GCA - downstream_gene_variant PACA-CA 12 6956732 6956732 single base substitution G A downstream_gene_variant PAEN-AU 12 6949960 6949960 single base substitution A C exon_variant PAEN-AU 12 6949960 6949960 single base substitution A C intron_variant PAEN-AU 12 6949960 6949960 single base substitution A C upstream_gene_variant PBCA-DE 12 6945904 6945904 single base substitution C T upstream_gene_variant PBCA-DE 12 6960627 6960627 single base substitution C T downstream_gene_variant PRAD-CA 12 6961025 6961025 single base substitution T G downstream_gene_variant PRAD-UK 12 6945500 6945500 single base substitution A C upstream_gene_variant PRAD-UK 12 6948189 6948189 single base substitution G A upstream_gene_variant PRAD-UK 12 6960911 6960943 deletion of <=200bp GTCCCTCGACTTTCCGACCGGACAGGTCCCCAG - downstream_gene_variant PRAD-US 12 6950751 6950751 single base substitution A G exon_variant PRAD-US 12 6950751 6950751 single base substitution A G missense_variant D20G 59A>G PRAD-US 12 6950751 6950751 single base substitution A G splice_region_variant PRAD-US 12 6950751 6950751 single base substitution A G upstream_gene_variant RECA-EU 12 6944575 6944575 single base substitution G T upstream_gene_variant RECA-EU 12 6948208 6948208 single base substitution C T upstream_gene_variant RECA-EU 12 6949640 6949640 single base substitution T G exon_variant RECA-EU 12 6949640 6949640 single base substitution T G intron_variant RECA-EU 12 6949640 6949640 single base substitution T G upstream_gene_variant RECA-EU 12 6956289 6956289 single base substitution C T 3_prime_UTR_variant RECA-EU 12 6956289 6956289 single base substitution C T downstream_gene_variant RECA-EU 12 6956289 6956289 single base substitution C T exon_variant SKCA-BR 12 6945798 6945798 single base substitution C T upstream_gene_variant SKCA-BR 12 6947326 6947326 single base substitution C T upstream_gene_variant SKCA-BR 12 6950042 6950042 single base substitution A C 5_prime_UTR_variant SKCA-BR 12 6950042 6950042 single base substitution A C exon_variant SKCA-BR 12 6950042 6950042 single base substitution A C intron_variant SKCA-BR 12 6950042 6950042 single base substitution A C upstream_gene_variant SKCA-BR 12 6950143 6950143 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 6950143 6950143 single base substitution G A exon_variant SKCA-BR 12 6950143 6950143 single base substitution G A intron_variant SKCA-BR 12 6950143 6950143 single base substitution G A upstream_gene_variant SKCM-US 12 6946236 6946236 single base substitution C T upstream_gene_variant SKCM-US 12 6946681 6946681 single base substitution C T upstream_gene_variant SKCM-US 12 6946709 6946709 single base substitution C T upstream_gene_variant SKCM-US 12 6946927 6946927 single base substitution C T upstream_gene_variant SKCM-US 12 6948179 6948179 single base substitution C T upstream_gene_variant SKCM-US 12 6950463 6950463 single base substitution G A exon_variant SKCM-US 12 6950463 6950463 single base substitution G A missense_variant M4I 12G>A SKCM-US 12 6950463 6950463 single base substitution G A upstream_gene_variant SKCM-US 12 6952194 6952194 single base substitution G A 3_prime_UTR_variant SKCM-US 12 6952194 6952194 single base substitution G A downstream_gene_variant SKCM-US 12 6952194 6952194 single base substitution G A exon_variant SKCM-US 12 6952194 6952194 single base substitution G A missense_variant G53R 157G>A SKCM-US 12 6952194 6952194 single base substitution G A upstream_gene_variant SKCM-US 12 6952642 6952642 single base substitution C T 3_prime_UTR_variant SKCM-US 12 6952642 6952642 single base substitution C T downstream_gene_variant SKCM-US 12 6952642 6952642 single base substitution C T exon_variant SKCM-US 12 6952642 6952642 single base substitution C T missense_variant S128F 383C>T SKCM-US 12 6952642 6952642 single base substitution C T upstream_gene_variant SKCM-US 12 6953077 6953077 single base substitution G A downstream_gene_variant SKCM-US 12 6953077 6953077 single base substitution G A exon_variant SKCM-US 12 6953077 6953077 single base substitution G A missense_variant D171N 511G>A SKCM-US 12 6953077 6953077 single base substitution G A missense_variant D211N 631G>A SKCM-US 12 6953077 6953077 single base substitution G A missense_variant D212N 634G>A SKCM-US 12 6953077 6953077 single base substitution G A upstream_gene_variant SKCM-US 12 6953089 6953089 single base substitution G A downstream_gene_variant SKCM-US 12 6953089 6953089 single base substitution G A exon_variant SKCM-US 12 6953089 6953089 single base substitution G A missense_variant G175R 523G>A SKCM-US 12 6953089 6953089 single base substitution G A missense_variant G215R 643G>A SKCM-US 12 6953089 6953089 single base substitution G A missense_variant G216R 646G>A SKCM-US 12 6953089 6953089 single base substitution G A upstream_gene_variant SKCM-US 12 6953123 6953123 single base substitution C G downstream_gene_variant SKCM-US 12 6953123 6953123 single base substitution C G exon_variant SKCM-US 12 6953123 6953123 single base substitution C G missense_variant S186W 557C>G SKCM-US 12 6953123 6953123 single base substitution C G missense_variant S226W 677C>G SKCM-US 12 6953123 6953123 single base substitution C G missense_variant S227W 680C>G SKCM-US 12 6953123 6953123 single base substitution C G upstream_gene_variant SKCM-US 12 6954844 6954844 single base substitution C T downstream_gene_variant SKCM-US 12 6954844 6954844 single base substitution C T exon_variant SKCM-US 12 6954844 6954844 single base substitution C T missense_variant S224F 671C>T SKCM-US 12 6954844 6954844 single base substitution C T missense_variant S264F 791C>T SKCM-US 12 6954844 6954844 single base substitution C T missense_variant S265F 794C>T SKCM-US 12 6956008 6956008 single base substitution C T downstream_gene_variant SKCM-US 12 6956008 6956008 single base substitution C T exon_variant SKCM-US 12 6956008 6956008 single base substitution C T synonymous_variant D322D 966C>T SKCM-US 12 6956008 6956008 single base substitution C T synonymous_variant D323D 969C>T SKCM-US 12 6958754 6958754 single base substitution C T downstream_gene_variant SKCM-US 12 6958788 6958788 single base substitution G A downstream_gene_variant STAD-US 12 6946910 6946910 single base substitution C T upstream_gene_variant STAD-US 12 6948180 6948180 single base substitution G A upstream_gene_variant STAD-US 12 6953130 6953130 single base substitution C G downstream_gene_variant STAD-US 12 6953130 6953130 single base substitution C G exon_variant STAD-US 12 6953130 6953130 single base substitution C G missense_variant I188M 564C>G STAD-US 12 6953130 6953130 single base substitution C G missense_variant I228M 684C>G STAD-US 12 6953130 6953130 single base substitution C G missense_variant I229M 687C>G STAD-US 12 6953130 6953130 single base substitution C G upstream_gene_variant STAD-US 12 6954785 6954785 single base substitution G A downstream_gene_variant STAD-US 12 6954785 6954785 single base substitution G A exon_variant STAD-US 12 6954785 6954785 single base substitution G A synonymous_variant S204S 612G>A STAD-US 12 6954785 6954785 single base substitution G A synonymous_variant S244S 732G>A STAD-US 12 6954785 6954785 single base substitution G A synonymous_variant S245S 735G>A STAD-US 12 6958314 6958314 single base substitution C A downstream_gene_variant STAD-US 12 6958779 6958779 single base substitution C G downstream_gene_variant THCA-SA 12 6946232 6946232 single base substitution G A upstream_gene_variant THCA-SA 12 6950035 6950035 single base substitution C T 5_prime_UTR_variant THCA-SA 12 6950035 6950035 single base substitution C T exon_variant THCA-SA 12 6950035 6950035 single base substitution C T intron_variant THCA-SA 12 6950035 6950035 single base substitution C T splice_region_variant THCA-SA 12 6950035 6950035 single base substitution C T upstream_gene_variant THCA-SA 12 6956018 6956018 single base substitution G A downstream_gene_variant THCA-SA 12 6956018 6956018 single base substitution G A exon_variant THCA-SA 12 6956018 6956018 single base substitution G A missense_variant V326M 976G>A THCA-SA 12 6956018 6956018 single base substitution G A missense_variant V327M 979G>A THCA-SA 12 6956180 6956180 single base substitution C T 3_prime_UTR_variant THCA-SA 12 6956180 6956180 single base substitution C T downstream_gene_variant THCA-SA 12 6956180 6956180 single base substitution C T exon_variant THCA-US 12 6960070 6960070 single base substitution G A downstream_gene_variant UCEC-US 12 6946611 6946611 single base substitution A G upstream_gene_variant UCEC-US 12 6952674 6952674 single base substitution C T downstream_gene_variant UCEC-US 12 6952674 6952674 single base substitution C T exon_variant UCEC-US 12 6952674 6952674 single base substitution C T missense_variant L139F 415C>T UCEC-US 12 6952674 6952674 single base substitution C T upstream_gene_variant UCEC-US 12 6952957 6952957 single base substitution G A downstream_gene_variant UCEC-US 12 6952957 6952957 single base substitution G A exon_variant UCEC-US 12 6952957 6952957 single base substitution G A intron_variant UCEC-US 12 6952957 6952957 single base substitution G A missense_variant E171K 511G>A UCEC-US 12 6952957 6952957 single base substitution G A missense_variant E172K 514G>A UCEC-US 12 6952957 6952957 single base substitution G A upstream_gene_variant UCEC-US 12 6952968 6952968 single base substitution G A downstream_gene_variant UCEC-US 12 6952968 6952968 single base substitution G A exon_variant UCEC-US 12 6952968 6952968 single base substitution G A intron_variant UCEC-US 12 6952968 6952968 single base substitution G A synonymous_variant Q174Q 522G>A UCEC-US 12 6952968 6952968 single base substitution G A synonymous_variant Q175Q 525G>A UCEC-US 12 6952968 6952968 single base substitution G A upstream_gene_variant UCEC-US 12 6954872 6954872 single base substitution G A downstream_gene_variant UCEC-US 12 6954872 6954872 single base substitution G A exon_variant UCEC-US 12 6954872 6954872 single base substitution G A synonymous_variant T233T 699G>A UCEC-US 12 6954872 6954872 single base substitution G A synonymous_variant T273T 819G>A UCEC-US 12 6954872 6954872 single base substitution G A synonymous_variant T274T 822G>A UCEC-US 12 6958492 6958492 single base substitution G A downstream_gene_variant UCEC-US 12 6958584 6958584 single base substitution C T downstream_gene_variant UCEC-US 12 6958831 6958831 single base substitution G C downstream_gene_variant UCEC-US 12 6959719 6959719 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand A9 COSM5349851 c.97-8C>G p.? Unknown 12:6842962-6842962 + CSCC-27-T COSM4501765 c.597C>T p.F199F Substitution - coding silent 12:6843876-6843876 + TCGA-A5-A0GB-01 COSM942957 c.525G>A p.Q175Q Substitution - coding silent 12:6843804-6843804 + TCGA-D1-A167-01 COSM942959 c.822G>A p.T274T Substitution - coding silent 12:6845708-6845708 + C086 COSM5531768 c.720C>T p.A240A Substitution - coding silent 12:6845606-6845606 + TCGA-33-4586-01 COSM695313 c.873C>T p.D291D Substitution - coding silent 12:6845759-6845759 + TCGA-AA-3558-01 COSM292404 c.124C>T p.R42* Substitution - Nonsense 12:6842997-6842997 + sysucc-311T COSM5478353 c.602C>T p.S201L Substitution - Missense 12:6843881-6843881 + TCGA-EE-A2MJ-06 COSM3464532 c.646G>A p.G216R Substitution - Missense 12:6843925-6843925 + TCGA-BR-A452-01 COSM4044476 c.687C>G p.I229M Substitution - Missense 12:6843966-6843966 + DN11190 COSM5789026 c.331T>A p.F111I Substitution - Missense 12:6843426-6843426 + 587364 COSM1208412 c.512T>G p.I171S Substitution - Missense 12:6843791-6843791 + LS174T COSM2099574 c.959T>C p.V320A Substitution - Missense 12:6846834-6846834 + TCGA-AZ-4615-01 COSM3688422 c.76G>A p.A26T Substitution - Missense 12:6841604-6841604 + BD114T COSM5503867 c.60T>C p.D20D Substitution - coding silent 12:6841588-6841588 + MOLT-4 COSM1676679 c.223C>T p.Q75* Substitution - Nonsense 12:6843193-6843193 + TCGA-D1-A17T-01 COSM942954 c.388G>T p.E130* Substitution - Nonsense 12:6843483-6843483 + PD7307a COSM5789026 c.331T>A p.F111I Substitution - Missense 12:6843426-6843426 + T2944 COSM4687445 c.240C>T p.I80I Substitution - coding silent 12:6843210-6843210 + SNU-175 COSM2099569 c.742G>A p.A248T Substitution - Missense 12:6845628-6845628 + 2492710 COSM5717642 c.122G>A p.G41E Substitution - Missense 12:6842995-6842995 + PTC-14C COSM4147423 c.875T>C p.F292S Substitution - Missense 12:6845761-6845761 + CRC-02T COSM5454162 c.826G>A p.V276M Substitution - Missense 12:6845712-6845712 + TCGA-A2-A0YH-01 COSM431759 c.149C>T p.T50M Substitution - Missense 12:6843022-6843022 + MOLT-4 COSM942958 c.691G>A p.A231T Substitution - Missense 12:6843970-6843970 + TCGA-66-2756-01 COSM695314 c.431-2A>T p.? Unknown 12:6843630-6843630 + MS3 COSM1165386 c.96+2T>A p.? Unknown 12:6841626-6841626 + 07-058 COSM3736074 c.814G>A p.G272S Substitution - Missense 12:6845700-6845700 + TCGA-AA-A010-01 COSM281416 c.331T>G p.F111V Substitution - Missense 12:6843426-6843426 + TCGA-AD-6889-01 COSM1363932 c.367A>G p.I123V Substitution - Missense 12:6843462-6843462 + 385 COSM3721943 c.776A>G p.Q259R Substitution - Missense 12:6845662-6845662 + CSCC-27-T COSM3464530 c.12G>A p.M4I Substitution - Missense 12:6841299-6841299 + TCGA-CA-6717-01 COSM1363931 c.15G>A p.E5E Substitution - coding silent 12:6841302-6841302 + KYSE-510 COSM2099545 c.28G>A p.E10K Substitution - Missense 12:6841315-6841315 + C086 COSM1512952 c.125G>A p.R42Q Substitution - Missense 12:6842998-6842998 + TCGA-FS-A1ZW-06 COSM3464534 c.794C>T p.S265F Substitution - Missense 12:6845680-6845680 + TCGA-FD-A3B6-01 COSM1299823 c.221C>T p.S74L Substitution - Missense 12:6843191-6843191 + TCGA-D3-A3ML-06 COSM3464530 c.12G>A p.M4I Substitution - Missense 12:6841299-6841299 + YUROC COSM5375846 c.341G>A p.C114Y Substitution - Missense 12:6843436-6843436 + sysucc-880T COSM5462266 c.304A>G p.T102A Substitution - Missense 12:6843399-6843399 + TCGA-D8-A1J8-01 COSM3812889 c.921C>T p.I307I Substitution - coding silent 12:6846796-6846796 + TCGA-DK-A3X1-01 COSM2099570 c.778G>A p.E260K Substitution - Missense 12:6845664-6845664 + HCT15 COSM1363933 c.848G>A p.R283H Substitution - Missense 12:6845734-6845734 + TCGA-CU-A3KJ-01 COSM1299824 c.824C>G p.S275C Substitution - Missense 12:6845710-6845710 + SNUH_G16_S1 COSM3676525 c.762C>T p.D254D Substitution - coding silent 12:6845648-6845648 + TCGA-D1-A17R-01 COSM942958 c.691G>A p.A231T Substitution - Missense 12:6843970-6843970 + GC8_T COSM147403 c.825C>T p.S275S Substitution - coding silent 12:6845711-6845711 + SW48 COSM2099555 c.317C>T p.A106V Substitution - Missense 12:6843412-6843412 + CADO-ES1 COSM2099551 c.226G>T p.D76Y Substitution - Missense 12:6843196-6843196 + Pat_41_B COSM5841803 c.487G>A p.D163N Substitution - Missense 12:6843688-6843688 + CSCC-27-T COSM4560424 c.842G>A p.S281N Substitution - Missense 12:6845728-6845728 + TCGA-DR-A0ZM-01 COSM459383 c.799G>A p.E267K Substitution - Missense 12:6845685-6845685 + 587342 COSM1208411 c.220T>G p.S74A Substitution - Missense 12:6843190-6843190 + CSCC-31-T COSM4551417 c.528G>A p.Q176Q Substitution - coding silent 12:6843807-6843807 + 2492709 COSM5717642 c.122G>A p.G41E Substitution - Missense 12:6842995-6842995 + TCGA-EE-A2GE-06 COSM3464533 c.680C>G p.S227W Substitution - Missense 12:6843959-6843959 + 2521252 COSM5889203 c.424C>T p.H142Y Substitution - Missense 12:6843519-6843519 + PTC_441 COSM5957422 c.979G>A p.V327M Substitution - Missense 12:6846854-6846854 + TCGA-FW-A3R5-06 COSM3872335 c.157G>A p.G53R Substitution - Missense 12:6843030-6843030 + BD49T COSM5498051 c.136C>T p.R46W Substitution - Missense 12:6843009-6843009 + TCGA-66-2771-01 COSM695315 c.132G>A p.Q44Q Substitution - coding silent 12:6843005-6843005 + TCGA-18-4086-01 COSM695316 c.70G>C p.A24P Substitution - Missense 12:6841598-6841598 + Au1 COSM5596791 c.130C>T p.Q44* Substitution - Nonsense 12:6843003-6843003 + ESO-0292 COSM1241219 c.457G>T p.D153Y Substitution - Missense 12:6843658-6843658 + STC252 COSM5051903 c.750C>T p.C250C Substitution - coding silent 12:6845636-6845636 + TCGA-A2-A0CU-01 COSM292404 c.124C>T p.R42* Substitution - Nonsense 12:6842997-6842997 + DLD1 COSM1363933 c.848G>A p.R283H Substitution - Missense 12:6845734-6845734 + BK0033 COSM4186965 c.311delC p.Y105fs*54 Deletion - Frameshift 12:6843406-6843406 + TCGA-CH-5790-01 COSM1128481 c.59A>G p.D20G Substitution - Missense 12:6841587-6841587 + BD236T COSM5519112 c.916+7G>A p.? Unknown 12:6845809-6845809 + 440 COSM4434395 c.410G>A p.R137Q Substitution - Missense 12:6843505-6843505 + TCGA-AZ-6601-01 COSM1363936 c.910C>T p.R304C Substitution - Missense 12:6845796-6845796 + TCGA-AM-5820-01 COSM147403 c.825C>T p.S275S Substitution - coding silent 12:6845711-6845711 + D16 COSM5007165 c.260C>A p.T87N Substitution - Missense 12:6843230-6843230 + 2492708 COSM5717642 c.122G>A p.G41E Substitution - Missense 12:6842995-6842995 + TCGA-BR-4369-01 COSM4044477 c.735G>A p.S245S Substitution - coding silent 12:6845621-6845621 + CRC-02T COSM3464535 c.969C>T p.D323D Substitution - coding silent 12:6846844-6846844 + TCGA-BS-A0UV-01 COSM942955 c.415C>T p.L139F Substitution - Missense 12:6843510-6843510 + TCGA-FS-A1ZA-06 COSM3464531 c.383C>T p.S128F Substitution - Missense 12:6843478-6843478 + PTC-7C COSM4147424 c.929G>C p.G310A Substitution - Missense 12:6846804-6846804 + TCGA-EE-A3AD-06 COSM3464535 c.969C>T p.D323D Substitution - coding silent 12:6846844-6846844 + LS180 COSM2099574 c.959T>C p.V320A Substitution - Missense 12:6846834-6846834 + HCT8 COSM1363933 c.848G>A p.R283H Substitution - Missense 12:6845734-6845734 + TCGA-D5-5537-01 COSM1363933 c.848G>A p.R283H Substitution - Missense 12:6845734-6845734 + ESO-0292 COSM1241220 c.488A>G p.D163G Substitution - Missense 12:6843689-6843689 + TCGA-FW-A3R5-06 COSM3872336 c.634G>A p.D212N Substitution - Missense 12:6843913-6843913 + TCGA-BG-A0MQ-01 COSM942956 c.514G>A p.E172K Substitution - Missense 12:6843793-6843793 + TCGA-C5-A7CO-01 COSM4856354 c.33G>A p.A11A Substitution - coding silent 12:6841320-6841320 + CSCC-55-T COSM4508133 c.766C>G p.R256G Substitution - Missense 12:6845652-6845652 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631657 12p13 139130

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D20G c.59A>G 12 6950751 PRAD A G Missense p.Q259R c.776A>G 12 6954826 HNSC A T SpliceAcceptorSNV . c.431-2A>T 12 6952794 LUSC C G Missense p.S227W c.680C>G 12 6953123 CM C G Missense p.S275C c.824C>G 12 6954874 BLCA C T Missense p.R48W c.142C>T 12 6952179 HNSC C T Missense p.S128F c.383C>T 12 6952642 CM C T Missense p.S265F c.794C>T 12 6954844 CM C T Missense p.S74L c.221C>T 12 6952355 BLCA C T Missense p.T50M c.149C>T 12 6952186 BRCA C T Nonsense p.R42* c.124C>T 12 6952161 BRCA C T Nonsense p.R42* c.124C>T 12 6952161 COREAD G A Missense p.E172K c.514G>A 12 6952957 UCEC G A Missense p.G216R c.646G>A 12 6953089 CM G A Missense p.M1I c.3G>A 12 6950454 CM G A Missense p.M4I c.12G>A 12 6950463 CM G A Missense p.R129H c.386G>A 12 6952645 BRCA G A Synonymous p.Q175Q c.525G>A 12 6952968 UCEC G A Synonymous p.Q44Q c.132G>A 12 6952169 LUSC G A Synonymous p.R48R c.144G>A 12 6952181 CM G C Missense p.A24P c.70G>C 12 6950762 LUSC G T Missense p.C148F c.443G>T 12 6952808 LUAD G T Missense p.G115W c.343G>T 12 6952602 LUAD