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 121855412 121855412 + Missense_Mutation SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:121855412C>G c.331C>G c.(331-333)Cag>Gag p.Q111E BLCA 12 121855573 121855573 + Silent SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr12:121855573G>T c.492G>T c.(490-492)ctG>ctT p.L164L BLCA 12 121858500 121858500 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr12:121858500T>G c.847T>G c.(847-849)Tat>Gat p.Y283D BRCA 12 121853973 121853973 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr12:121853973G>A c.18G>A c.(16-18)acG>acA p.T6T BRCA 12 121854108 121854108 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:121854108A>C c.153A>C c.(151-153)ccA>ccC p.P51P BRCA 12 121855406 121855406 + Frame_Shift_Del DEL G G - TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 g.chr12:121855406delG c.325delG c.(325-327)gcafs p.A109fs BRCA 12 121858105 121858105 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr12:121858105G>A c.694G>A c.(694-696)Gat>Aat p.D232N BRCA 12 121858422 121858422 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:121858422G>C c.769G>C c.(769-771)Gac>Cac p.D257H COAD 12 121855416 121855416 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:121855416G>A c.335G>A c.(334-336)cGc>cAc p.R112H COAD 12 121855611 121855611 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:121855611G>A c.530G>A c.(529-531)cGt>cAt p.R177H COAD 12 121858086 121858086 + Silent SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:121858086T>C c.675T>C c.(673-675)gaT>gaC p.D225D COAD 12 121858089 121858089 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:121858089C>T c.678C>T c.(676-678)gaC>gaT p.D226D COAD 12 121861198 121861198 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:121861198G>A c.938G>A c.(937-939)cGg>cAg p.R313Q COAD 12 121861315 121861315 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:121861315G>A c.1055G>A c.(1054-1056)cGc>cAc p.R352H COADREAD 12 121855416 121855416 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:121855416G>A c.335G>A c.(334-336)cGc>cAc p.R112H COADREAD 12 121855611 121855611 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:121855611G>A c.530G>A c.(529-531)cGt>cAt p.R177H COADREAD 12 121858086 121858086 + Silent SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:121858086T>C c.675T>C c.(673-675)gaT>gaC p.D225D COADREAD 12 121858089 121858089 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:121858089C>T c.678C>T c.(676-678)gaC>gaT p.D226D COADREAD 12 121861198 121861198 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:121861198G>A c.938G>A c.(937-939)cGg>cAg p.R313Q COADREAD 12 121861315 121861315 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:121861315G>A c.1055G>A c.(1054-1056)cGc>cAc p.R352H DLBC 12 121858078 121858080 + In_Frame_Del DEL GAT GAT - TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:121858078_121858080delGAT c.667_669delGAT c.(667-669)gatdel p.D229del KIPAN 12 121855373 121855374 + Frame_Shift_Del DEL AG AG - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr12:121855373_121855374delAG c.292_293delAG c.(292-294)agafs p.R98fs KIPAN 12 121858061 121858061 + Missense_Mutation SNP C C A TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr12:121858061C>A c.650C>A c.(649-651)aCt>aAt p.T217N KIRP 12 121855373 121855374 + Frame_Shift_Del DEL AG AG - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr12:121855373_121855374delAG c.292_293delAG c.(292-294)agafs p.R98fs KIRP 12 121858061 121858061 + Missense_Mutation SNP C C A TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr12:121858061C>A c.650C>A c.(649-651)aCt>aAt p.T217N LUAD 12 121854012 121854012 + Silent SNP C C T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr12:121854012C>T c.57C>T c.(55-57)gtC>gtT p.V19V LUAD 12 121855448 121855448 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr12:121855448C>G c.367C>G c.(367-369)Ctg>Gtg p.L123V LUSC 12 121855404 121855404 + Missense_Mutation SNP C C T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr12:121855404C>T c.323C>T c.(322-324)aCa>aTa p.T108I PAAD 12 121855430 121855430 + Nonsense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr12:121855430C>T c.349C>T c.(349-351)Cga>Tga p.R117* PRAD 12 121855706 121855706 + Missense_Mutation SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 g.chr12:121855706C>T c.625C>T c.(625-627)Ccg>Tcg p.P209S SKCM 12 121858571 121858571 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr12:121858571C>T c.918C>T c.(916-918)aaC>aaT p.N306N SKCM 12 121858580 121858580 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr12:121858580C>T c.927C>T c.(925-927)tcC>tcT p.S309S

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 121867872 121867872 single base substitution G C missense_variant E367Q 1099G>C BRCA-EU 12 121833154 121833154 single base substitution G A upstream_gene_variant BRCA-EU 12 121836119 121836119 single base substitution G A upstream_gene_variant BRCA-EU 12 121836187 121836188 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 12 121836588 121836588 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 121837518 121837518 single base substitution C T upstream_gene_variant BRCA-EU 12 121837918 121837918 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 121837918 121837918 single base substitution G T upstream_gene_variant BRCA-EU 12 121838791 121838791 single base substitution T G intron_variant BRCA-EU 12 121839983 121839983 single base substitution A G intron_variant BRCA-EU 12 121840808 121840808 single base substitution G C intron_variant BRCA-EU 12 121842714 121842714 single base substitution A G 5_prime_UTR_variant BRCA-EU 12 121842714 121842714 single base substitution A G intron_variant BRCA-EU 12 121842714 121842714 single base substitution A G upstream_gene_variant BRCA-EU 12 121844758 121844758 single base substitution G A intron_variant BRCA-EU 12 121844758 121844758 single base substitution G A upstream_gene_variant BRCA-EU 12 121845203 121845203 single base substitution G C intron_variant BRCA-EU 12 121845203 121845203 single base substitution G C upstream_gene_variant BRCA-EU 12 121845713 121845713 single base substitution T G intron_variant BRCA-EU 12 121845713 121845713 single base substitution T G upstream_gene_variant BRCA-EU 12 121845888 121845888 single base substitution C T intron_variant BRCA-EU 12 121845888 121845888 single base substitution C T upstream_gene_variant BRCA-EU 12 121848473 121848473 single base substitution A C intron_variant BRCA-EU 12 121848839 121848839 single base substitution G C intron_variant BRCA-EU 12 121849652 121849652 single base substitution T G intron_variant BRCA-EU 12 121850242 121850242 single base substitution T G intron_variant BRCA-EU 12 121850780 121850780 single base substitution C T intron_variant BRCA-EU 12 121852236 121852236 single base substitution C T intron_variant BRCA-EU 12 121853257 121853257 single base substitution C T intron_variant BRCA-EU 12 121853257 121853257 single base substitution C T upstream_gene_variant BRCA-EU 12 121855767 121855767 single base substitution G A downstream_gene_variant BRCA-EU 12 121855767 121855767 single base substitution G A exon_variant BRCA-EU 12 121855767 121855767 single base substitution G A intron_variant BRCA-EU 12 121855767 121855767 single base substitution G A upstream_gene_variant BRCA-EU 12 121857676 121857676 single base substitution C G downstream_gene_variant BRCA-EU 12 121857676 121857676 single base substitution C G intron_variant BRCA-EU 12 121857676 121857676 single base substitution C G upstream_gene_variant BRCA-EU 12 121858706 121858706 single base substitution C T downstream_gene_variant BRCA-EU 12 121858706 121858706 single base substitution C T intron_variant BRCA-EU 12 121859410 121859410 single base substitution C A downstream_gene_variant BRCA-EU 12 121859410 121859410 single base substitution C A intron_variant BRCA-EU 12 121860930 121860930 single base substitution G C downstream_gene_variant BRCA-EU 12 121860930 121860930 single base substitution G C intron_variant BRCA-EU 12 121861353 121861353 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 121861353 121861353 single base substitution C T downstream_gene_variant BRCA-EU 12 121861353 121861353 single base substitution C T exon_variant BRCA-EU 12 121861353 121861353 single base substitution C T intron_variant BRCA-EU 12 121861353 121861353 single base substitution C T stop_gained R365* 1093C>T BRCA-EU 12 121861353 121861353 single base substitution C T stop_gained R366* 1096C>T BRCA-EU 12 121861939 121861939 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 121861939 121861939 single base substitution C T downstream_gene_variant BRCA-EU 12 121861939 121861939 single base substitution C T exon_variant BRCA-EU 12 121861939 121861939 single base substitution C T intron_variant BRCA-EU 12 121864018 121864018 single base substitution T C downstream_gene_variant BRCA-EU 12 121864018 121864018 single base substitution T C intron_variant BRCA-EU 12 121864299 121864299 single base substitution G C downstream_gene_variant BRCA-EU 12 121864299 121864299 single base substitution G C intron_variant BRCA-EU 12 121864617 121864617 single base substitution G C downstream_gene_variant BRCA-EU 12 121864617 121864617 single base substitution G C intron_variant BRCA-EU 12 121866218 121866218 single base substitution G C downstream_gene_variant BRCA-EU 12 121866218 121866218 single base substitution G C intron_variant BRCA-EU 12 121869626 121869626 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 121870553 121870553 single base substitution G A downstream_gene_variant BRCA-EU 12 121871292 121871292 single base substitution G T downstream_gene_variant BRCA-EU 12 121871751 121871751 single base substitution G T downstream_gene_variant BRCA-EU 12 121871886 121871886 single base substitution G T downstream_gene_variant BRCA-FR 12 121836119 121836119 single base substitution G A upstream_gene_variant BRCA-FR 12 121837518 121837518 single base substitution C T upstream_gene_variant BRCA-FR 12 121837918 121837918 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 12 121837918 121837918 single base substitution G T upstream_gene_variant BRCA-FR 12 121848473 121848473 single base substitution A C intron_variant BRCA-FR 12 121852236 121852236 single base substitution C T intron_variant BRCA-FR 12 121857676 121857676 single base substitution C G downstream_gene_variant BRCA-FR 12 121857676 121857676 single base substitution C G intron_variant BRCA-FR 12 121857676 121857676 single base substitution C G upstream_gene_variant BRCA-FR 12 121858706 121858706 single base substitution C T downstream_gene_variant BRCA-FR 12 121858706 121858706 single base substitution C T intron_variant BRCA-FR 12 121859410 121859410 single base substitution C A downstream_gene_variant BRCA-FR 12 121859410 121859410 single base substitution C A intron_variant BRCA-FR 12 121871751 121871751 single base substitution G T downstream_gene_variant BRCA-UK 12 121842774 121842775 deletion of <=200bp AG - 5_prime_UTR_variant BRCA-UK 12 121842774 121842775 deletion of <=200bp AG - intron_variant BRCA-UK 12 121842774 121842775 deletion of <=200bp AG - upstream_gene_variant BRCA-UK 12 121845844 121845844 single base substitution C T intron_variant BRCA-UK 12 121845844 121845844 single base substitution C T upstream_gene_variant BRCA-UK 12 121861334 121861334 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 121861334 121861334 single base substitution C T downstream_gene_variant BRCA-UK 12 121861334 121861334 single base substitution C T exon_variant BRCA-UK 12 121861334 121861334 single base substitution C T intron_variant BRCA-UK 12 121861334 121861334 single base substitution C T synonymous_variant I358I 1074C>T BRCA-UK 12 121861334 121861334 single base substitution C T synonymous_variant I359I 1077C>T BRCA-US 12 121853973 121853973 single base substitution G A 5_prime_UTR_variant BRCA-US 12 121853973 121853973 single base substitution G A exon_variant BRCA-US 12 121853973 121853973 single base substitution G A intron_variant BRCA-US 12 121853973 121853973 single base substitution G A synonymous_variant T6T 18G>A BRCA-US 12 121853973 121853973 single base substitution G A synonymous_variant T7T 21G>A BRCA-US 12 121853973 121853973 single base substitution G A upstream_gene_variant BRCA-US 12 121854108 121854108 single base substitution A C downstream_gene_variant BRCA-US 12 121854108 121854108 single base substitution A C exon_variant BRCA-US 12 121854108 121854108 single base substitution A C intron_variant BRCA-US 12 121854108 121854108 single base substitution A C synonymous_variant P44P 132A>C BRCA-US 12 121854108 121854108 single base substitution A C synonymous_variant P51P 153A>C BRCA-US 12 121854108 121854108 single base substitution A C synonymous_variant P52P 156A>C BRCA-US 12 121854108 121854108 single base substitution A C upstream_gene_variant BRCA-US 12 121855406 121855406 deletion of <=200bp G - downstream_gene_variant BRCA-US 12 121855406 121855406 deletion of <=200bp G - exon_variant BRCA-US 12 121855406 121855406 deletion of <=200bp G - frameshift_variant A102 BRCA-US 12 121855406 121855406 deletion of <=200bp G - frameshift_variant A109 BRCA-US 12 121855406 121855406 deletion of <=200bp G - frameshift_variant A110 BRCA-US 12 121855406 121855406 deletion of <=200bp G - intron_variant BRCA-US 12 121855406 121855406 deletion of <=200bp G - upstream_gene_variant BRCA-US 12 121858105 121858105 single base substitution G A downstream_gene_variant BRCA-US 12 121858105 121858105 single base substitution G A exon_variant BRCA-US 12 121858105 121858105 single base substitution G A intron_variant BRCA-US 12 121858105 121858105 single base substitution G A missense_variant D232N 694G>A BRCA-US 12 121858105 121858105 single base substitution G A missense_variant D233N 697G>A BRCA-US 12 121858422 121858422 single base substitution G C downstream_gene_variant BRCA-US 12 121858422 121858422 single base substitution G C exon_variant BRCA-US 12 121858422 121858422 single base substitution G C intron_variant BRCA-US 12 121858422 121858422 single base substitution G C missense_variant D257H 769G>C BRCA-US 12 121858422 121858422 single base substitution G C missense_variant D258H 772G>C BRCA-US 12 121868126 121868126 single base substitution G T missense_variant L451F 1353G>T BTCA-JP 12 121854119 121854119 single base substitution C T downstream_gene_variant BTCA-JP 12 121854119 121854119 single base substitution C T exon_variant BTCA-JP 12 121854119 121854119 single base substitution C T intron_variant BTCA-JP 12 121854119 121854119 single base substitution C T missense_variant T48M 143C>T BTCA-JP 12 121854119 121854119 single base substitution C T missense_variant T55M 164C>T BTCA-JP 12 121854119 121854119 single base substitution C T missense_variant T56M 167C>T BTCA-JP 12 121854119 121854119 single base substitution C T upstream_gene_variant BTCA-JP 12 121855601 121855601 insertion of <=200bp - T downstream_gene_variant BTCA-JP 12 121855601 121855601 insertion of <=200bp - T exon_variant BTCA-JP 12 121855601 121855601 insertion of <=200bp - T frameshift_variant F174F? BTCA-JP 12 121855601 121855601 insertion of <=200bp - T frameshift_variant F175F? BTCA-JP 12 121855601 121855601 insertion of <=200bp - T intron_variant BTCA-JP 12 121855601 121855601 insertion of <=200bp - T upstream_gene_variant BTCA-JP 12 121855623 121855623 single base substitution C T downstream_gene_variant BTCA-JP 12 121855623 121855623 single base substitution C T exon_variant BTCA-JP 12 121855623 121855623 single base substitution C T intron_variant BTCA-JP 12 121855623 121855623 single base substitution C T missense_variant S181L 542C>T BTCA-JP 12 121855623 121855623 single base substitution C T missense_variant S182L 545C>T BTCA-JP 12 121855623 121855623 single base substitution C T upstream_gene_variant CESC-US 12 121868153 121868153 single base substitution C T synonymous_variant L460L 1380C>T CLLE-ES 12 121848845 121848845 single base substitution C T intron_variant CLLE-ES 12 121853665 121853665 insertion of <=200bp - TTA intron_variant CLLE-ES 12 121853665 121853665 insertion of <=200bp - TTA upstream_gene_variant CLLE-ES 12 121865299 121865299 single base substitution C T downstream_gene_variant CLLE-ES 12 121865299 121865299 single base substitution C T intron_variant CLLE-ES 12 121872249 121872249 single base substitution A C downstream_gene_variant COAD-US 12 121855416 121855416 single base substitution G A downstream_gene_variant COAD-US 12 121855416 121855416 single base substitution G A exon_variant COAD-US 12 121855416 121855416 single base substitution G A intron_variant COAD-US 12 121855416 121855416 single base substitution G A missense_variant R105H 314G>A COAD-US 12 121855416 121855416 single base substitution G A missense_variant R112H 335G>A COAD-US 12 121855416 121855416 single base substitution G A missense_variant R113H 338G>A COAD-US 12 121855416 121855416 single base substitution G A upstream_gene_variant COAD-US 12 121855611 121855611 single base substitution G A downstream_gene_variant COAD-US 12 121855611 121855611 single base substitution G A exon_variant COAD-US 12 121855611 121855611 single base substitution G A intron_variant COAD-US 12 121855611 121855611 single base substitution G A missense_variant R177H 530G>A COAD-US 12 121855611 121855611 single base substitution G A missense_variant R178H 533G>A COAD-US 12 121855611 121855611 single base substitution G A upstream_gene_variant COAD-US 12 121858086 121858086 single base substitution T C downstream_gene_variant COAD-US 12 121858086 121858086 single base substitution T C exon_variant COAD-US 12 121858086 121858086 single base substitution T C intron_variant COAD-US 12 121858086 121858086 single base substitution T C synonymous_variant D225D 675T>C COAD-US 12 121858086 121858086 single base substitution T C synonymous_variant D226D 678T>C COAD-US 12 121858089 121858089 single base substitution C T downstream_gene_variant COAD-US 12 121858089 121858089 single base substitution C T exon_variant COAD-US 12 121858089 121858089 single base substitution C T intron_variant COAD-US 12 121858089 121858089 single base substitution C T synonymous_variant D226D 678C>T COAD-US 12 121858089 121858089 single base substitution C T synonymous_variant D227D 681C>T COAD-US 12 121861315 121861315 single base substitution G A downstream_gene_variant COAD-US 12 121861315 121861315 single base substitution G A exon_variant COAD-US 12 121861315 121861315 single base substitution G A missense_variant A45T 133G>A COAD-US 12 121861315 121861315 single base substitution G A missense_variant R352H 1055G>A COAD-US 12 121861315 121861315 single base substitution G A missense_variant R353H 1058G>A COAD-US 12 121868242 121868242 single base substitution G A missense_variant G490E 1469G>A COCA-CN 12 121842501 121842501 single base substitution A G intron_variant COCA-CN 12 121842501 121842501 single base substitution A G upstream_gene_variant COCA-CN 12 121855649 121855649 single base substitution A C downstream_gene_variant COCA-CN 12 121855649 121855649 single base substitution A C exon_variant COCA-CN 12 121855649 121855649 single base substitution A C intron_variant COCA-CN 12 121855649 121855649 single base substitution A C missense_variant M190L 568A>C COCA-CN 12 121855649 121855649 single base substitution A C missense_variant M191L 571A>C COCA-CN 12 121855649 121855649 single base substitution A C upstream_gene_variant COCA-CN 12 121861223 121861223 single base substitution C T downstream_gene_variant COCA-CN 12 121861223 121861223 single base substitution C T exon_variant COCA-CN 12 121861223 121861223 single base substitution C T missense_variant T14M 41C>T COCA-CN 12 121861223 121861223 single base substitution C T synonymous_variant D321D 963C>T COCA-CN 12 121861223 121861223 single base substitution C T synonymous_variant D322D 966C>T COCA-CN 12 121868247 121868247 single base substitution G A missense_variant A492T 1474G>A EOPC-DE 12 121843166 121843166 single base substitution C G intron_variant EOPC-DE 12 121843166 121843166 single base substitution C G upstream_gene_variant ESAD-UK 12 121836262 121836262 single base substitution G A upstream_gene_variant ESAD-UK 12 121837817 121837817 single base substitution C T upstream_gene_variant ESAD-UK 12 121844606 121844606 single base substitution C G intron_variant ESAD-UK 12 121844606 121844606 single base substitution C G upstream_gene_variant ESAD-UK 12 121846189 121846189 single base substitution G A intron_variant ESAD-UK 12 121846189 121846189 single base substitution G A upstream_gene_variant ESAD-UK 12 121851549 121851549 single base substitution T G intron_variant ESAD-UK 12 121852793 121852793 single base substitution G A intron_variant ESAD-UK 12 121852793 121852793 single base substitution G A upstream_gene_variant ESAD-UK 12 121855119 121855119 single base substitution G A downstream_gene_variant ESAD-UK 12 121855119 121855119 single base substitution G A intron_variant ESAD-UK 12 121855119 121855119 single base substitution G A upstream_gene_variant ESAD-UK 12 121855553 121855553 single base substitution G A downstream_gene_variant ESAD-UK 12 121855553 121855553 single base substitution G A exon_variant ESAD-UK 12 121855553 121855553 single base substitution G A intron_variant ESAD-UK 12 121855553 121855553 single base substitution G A missense_variant D151N 451G>A ESAD-UK 12 121855553 121855553 single base substitution G A missense_variant D158N 472G>A ESAD-UK 12 121855553 121855553 single base substitution G A missense_variant D159N 475G>A ESAD-UK 12 121855553 121855553 single base substitution G A upstream_gene_variant ESAD-UK 12 121855725 121855725 single base substitution G A downstream_gene_variant ESAD-UK 12 121855725 121855725 single base substitution G A exon_variant ESAD-UK 12 121855725 121855725 single base substitution G A intron_variant ESAD-UK 12 121855725 121855725 single base substitution G A upstream_gene_variant ESAD-UK 12 121858602 121858602 single base substitution T G downstream_gene_variant ESAD-UK 12 121858602 121858602 single base substitution T G intron_variant ESAD-UK 12 121860634 121860634 single base substitution T A downstream_gene_variant ESAD-UK 12 121860634 121860634 single base substitution T A intron_variant ESAD-UK 12 121861741 121861741 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 121861741 121861741 single base substitution G A downstream_gene_variant ESAD-UK 12 121861741 121861741 single base substitution G A exon_variant ESAD-UK 12 121861741 121861741 single base substitution G A intron_variant ESAD-UK 12 121864803 121864803 single base substitution T G downstream_gene_variant ESAD-UK 12 121864803 121864803 single base substitution T G intron_variant ESAD-UK 12 121866298 121866298 single base substitution T C downstream_gene_variant ESAD-UK 12 121866298 121866298 single base substitution T C intron_variant ESAD-UK 12 121868483 121868483 single base substitution G T downstream_gene_variant KIRC-US 12 121861336 121861336 single base substitution G A 3_prime_UTR_variant KIRC-US 12 121861336 121861336 single base substitution G A downstream_gene_variant KIRC-US 12 121861336 121861336 single base substitution G A exon_variant KIRC-US 12 121861336 121861336 single base substitution G A intron_variant KIRC-US 12 121861336 121861336 single base substitution G A missense_variant C359Y 1076G>A KIRC-US 12 121861336 121861336 single base substitution G A missense_variant C360Y 1079G>A KIRP-US 12 121855373 121855374 deletion of <=200bp AG - downstream_gene_variant KIRP-US 12 121855373 121855374 deletion of <=200bp AG - exon_variant KIRP-US 12 121855373 121855374 deletion of <=200bp AG - frameshift_variant R91 KIRP-US 12 121855373 121855374 deletion of <=200bp AG - frameshift_variant R98 KIRP-US 12 121855373 121855374 deletion of <=200bp AG - frameshift_variant R99 KIRP-US 12 121855373 121855374 deletion of <=200bp AG - intron_variant KIRP-US 12 121855373 121855374 deletion of <=200bp AG - upstream_gene_variant LAML-KR 12 121850954 121850954 single base substitution A G intron_variant LAML-KR 12 121869700 121869700 single base substitution G T downstream_gene_variant LICA-FR 12 121842664 121842664 single base substitution C G 5_prime_UTR_variant LICA-FR 12 121842664 121842664 single base substitution C G intron_variant LICA-FR 12 121842664 121842664 single base substitution C G upstream_gene_variant LICA-FR 12 121853029 121853029 deletion of <=200bp T - intron_variant LICA-FR 12 121853029 121853029 deletion of <=200bp T - upstream_gene_variant LICA-FR 12 121855616 121855616 insertion of <=200bp - T downstream_gene_variant LICA-FR 12 121855616 121855616 insertion of <=200bp - T exon_variant LICA-FR 12 121855616 121855616 insertion of <=200bp - T frameshift_variant F179F? LICA-FR 12 121855616 121855616 insertion of <=200bp - T frameshift_variant F180F? LICA-FR 12 121855616 121855616 insertion of <=200bp - T intron_variant LICA-FR 12 121855616 121855616 insertion of <=200bp - T upstream_gene_variant LICA-FR 12 121862714 121862714 single base substitution A C downstream_gene_variant LICA-FR 12 121862714 121862714 single base substitution A C intron_variant LICA-FR 12 121872841 121872841 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 121835478 121835478 single base substitution G T upstream_gene_variant LINC-JP 12 121836188 121836188 single base substitution T A upstream_gene_variant LINC-JP 12 121853218 121853218 single base substitution A G intron_variant LINC-JP 12 121853218 121853218 single base substitution A G upstream_gene_variant LINC-JP 12 121854000 121854000 single base substitution G A exon_variant LINC-JP 12 121854000 121854000 single base substitution G A intron_variant LINC-JP 12 121854000 121854000 single base substitution G A synonymous_variant L15L 45G>A LINC-JP 12 121854000 121854000 single base substitution G A synonymous_variant L16L 48G>A LINC-JP 12 121854000 121854000 single base substitution G A synonymous_variant L8L 24G>A LINC-JP 12 121854000 121854000 single base substitution G A upstream_gene_variant LINC-JP 12 121867864 121867864 single base substitution A G missense_variant N364S 1091A>G LINC-JP 12 121870265 121870265 single base substitution A C downstream_gene_variant LIRI-JP 12 121842675 121842675 single base substitution A C 5_prime_UTR_variant LIRI-JP 12 121842675 121842675 single base substitution A C intron_variant LIRI-JP 12 121842675 121842675 single base substitution A C upstream_gene_variant LIRI-JP 12 121842720 121842720 single base substitution A C 5_prime_UTR_variant LIRI-JP 12 121842720 121842720 single base substitution A C intron_variant LIRI-JP 12 121842720 121842720 single base substitution A C upstream_gene_variant LIRI-JP 12 121842730 121842730 single base substitution A C 5_prime_UTR_variant LIRI-JP 12 121842730 121842730 single base substitution A C intron_variant LIRI-JP 12 121842730 121842730 single base substitution A C upstream_gene_variant LIRI-JP 12 121842740 121842740 single base substitution A T 5_prime_UTR_variant LIRI-JP 12 121842740 121842740 single base substitution A T intron_variant LIRI-JP 12 121842740 121842740 single base substitution A T upstream_gene_variant LIRI-JP 12 121842742 121842742 single base substitution A C 5_prime_UTR_variant LIRI-JP 12 121842742 121842742 single base substitution A C intron_variant LIRI-JP 12 121842742 121842742 single base substitution A C upstream_gene_variant LIRI-JP 12 121842742 121842742 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 121842742 121842742 single base substitution A T intron_variant LIRI-JP 12 121842742 121842742 single base substitution A T upstream_gene_variant LIRI-JP 12 121850588 121850588 single base substitution C T intron_variant LIRI-JP 12 121852514 121852514 single base substitution C T intron_variant LIRI-JP 12 121852875 121852875 single base substitution G T intron_variant LIRI-JP 12 121852875 121852875 single base substitution G T upstream_gene_variant LIRI-JP 12 121853063 121853063 single base substitution T G intron_variant LIRI-JP 12 121853063 121853063 single base substitution T G upstream_gene_variant LIRI-JP 12 121855672 121855672 single base substitution T A downstream_gene_variant LIRI-JP 12 121855672 121855672 single base substitution T A exon_variant LIRI-JP 12 121855672 121855672 single base substitution T A intron_variant LIRI-JP 12 121855672 121855672 single base substitution T A synonymous_variant L197L 591T>A LIRI-JP 12 121855672 121855672 single base substitution T A synonymous_variant L198L 594T>A LIRI-JP 12 121855672 121855672 single base substitution T A upstream_gene_variant LIRI-JP 12 121856243 121856243 single base substitution A G downstream_gene_variant LIRI-JP 12 121856243 121856243 single base substitution A G exon_variant LIRI-JP 12 121856243 121856243 single base substitution A G intron_variant LIRI-JP 12 121856243 121856243 single base substitution A G upstream_gene_variant LIRI-JP 12 121857154 121857154 single base substitution C T downstream_gene_variant LIRI-JP 12 121857154 121857154 single base substitution C T intron_variant LIRI-JP 12 121857154 121857154 single base substitution C T upstream_gene_variant LIRI-JP 12 121857321 121857321 single base substitution A G downstream_gene_variant LIRI-JP 12 121857321 121857321 single base substitution A G intron_variant LIRI-JP 12 121857321 121857321 single base substitution A G upstream_gene_variant LIRI-JP 12 121857923 121857924 deletion of <=200bp AA - downstream_gene_variant LIRI-JP 12 121857923 121857924 deletion of <=200bp AA - exon_variant LIRI-JP 12 121857923 121857924 deletion of <=200bp AA - intron_variant LIRI-JP 12 121857962 121857962 single base substitution T C downstream_gene_variant LIRI-JP 12 121857962 121857962 single base substitution T C exon_variant LIRI-JP 12 121857962 121857962 single base substitution T C intron_variant LIRI-JP 12 121857986 121857986 single base substitution T C downstream_gene_variant LIRI-JP 12 121857986 121857986 single base substitution T C exon_variant LIRI-JP 12 121857986 121857986 single base substitution T C intron_variant LIRI-JP 12 121862497 121862497 single base substitution G A downstream_gene_variant LIRI-JP 12 121862497 121862497 single base substitution G A intron_variant LIRI-JP 12 121862629 121862629 single base substitution G T downstream_gene_variant LIRI-JP 12 121862629 121862629 single base substitution G T intron_variant LIRI-JP 12 121867747 121867747 single base substitution T C intron_variant LIRI-JP 12 121867932 121867932 single base substitution A G missense_variant K387E 1159A>G LIRI-JP 12 121870588 121870588 single base substitution A C downstream_gene_variant LIRI-JP 12 121870905 121870905 single base substitution T A downstream_gene_variant LIRI-JP 12 121870917 121870917 single base substitution T C downstream_gene_variant LUSC-KR 12 121833808 121833808 single base substitution C A upstream_gene_variant LUSC-KR 12 121837952 121837952 single base substitution T A 5_prime_UTR_variant LUSC-KR 12 121837952 121837952 single base substitution T A exon_variant LUSC-KR 12 121838503 121838503 single base substitution C G intron_variant LUSC-KR 12 121840925 121840925 single base substitution C T intron_variant LUSC-KR 12 121842739 121842739 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 121842739 121842739 single base substitution G T intron_variant LUSC-KR 12 121842739 121842739 single base substitution G T upstream_gene_variant LUSC-KR 12 121847871 121847871 single base substitution C T intron_variant LUSC-KR 12 121851118 121851118 single base substitution C T intron_variant LUSC-KR 12 121851710 121851710 single base substitution G C intron_variant LUSC-KR 12 121855890 121855890 single base substitution G T downstream_gene_variant LUSC-KR 12 121855890 121855890 single base substitution G T exon_variant LUSC-KR 12 121855890 121855890 single base substitution G T intron_variant LUSC-KR 12 121855890 121855890 single base substitution G T upstream_gene_variant LUSC-KR 12 121858924 121858924 single base substitution G A downstream_gene_variant LUSC-KR 12 121858924 121858924 single base substitution G A intron_variant LUSC-KR 12 121859176 121859176 single base substitution A C downstream_gene_variant LUSC-KR 12 121859176 121859176 single base substitution A C intron_variant LUSC-KR 12 121866876 121866876 single base substitution C G downstream_gene_variant LUSC-KR 12 121866876 121866876 single base substitution C G intron_variant LUSC-KR 12 121866985 121866985 single base substitution T G downstream_gene_variant LUSC-KR 12 121866985 121866985 single base substitution T G intron_variant LUSC-US 12 121855404 121855404 single base substitution C T downstream_gene_variant LUSC-US 12 121855404 121855404 single base substitution C T exon_variant LUSC-US 12 121855404 121855404 single base substitution C T intron_variant LUSC-US 12 121855404 121855404 single base substitution C T missense_variant T101I 302C>T LUSC-US 12 121855404 121855404 single base substitution C T missense_variant T108I 323C>T LUSC-US 12 121855404 121855404 single base substitution C T missense_variant T109I 326C>T LUSC-US 12 121855404 121855404 single base substitution C T upstream_gene_variant MALY-DE 12 121833290 121833290 single base substitution T C upstream_gene_variant MALY-DE 12 121835804 121835804 single base substitution C T upstream_gene_variant MALY-DE 12 121839099 121839099 single base substitution A C intron_variant MALY-DE 12 121843006 121843006 single base substitution T G intron_variant MALY-DE 12 121843006 121843006 single base substitution T G upstream_gene_variant MALY-DE 12 121847618 121847618 single base substitution G A intron_variant MALY-DE 12 121860497 121860497 single base substitution A G downstream_gene_variant MALY-DE 12 121860497 121860497 single base substitution A G intron_variant MALY-DE 12 121864677 121864677 single base substitution T C downstream_gene_variant MALY-DE 12 121864677 121864677 single base substitution T C intron_variant MALY-DE 12 121866983 121866983 single base substitution G A downstream_gene_variant MALY-DE 12 121866983 121866983 single base substitution G A intron_variant MALY-DE 12 121871531 121871531 single base substitution T C downstream_gene_variant MELA-AU 12 121833182 121833182 single base substitution C T upstream_gene_variant MELA-AU 12 121833184 121833184 single base substitution C T upstream_gene_variant MELA-AU 12 121833468 121833468 single base substitution A T upstream_gene_variant MELA-AU 12 121834101 121834101 single base substitution G A upstream_gene_variant MELA-AU 12 121834572 121834572 single base substitution T G upstream_gene_variant MELA-AU 12 121834772 121834772 single base substitution T A upstream_gene_variant MELA-AU 12 121835260 121835260 single base substitution T C upstream_gene_variant MELA-AU 12 121835385 121835385 single base substitution G A upstream_gene_variant MELA-AU 12 121836090 121836090 single base substitution G A upstream_gene_variant MELA-AU 12 121836244 121836245 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 121837802 121837802 single base substitution C T upstream_gene_variant MELA-AU 12 121837805 121837805 single base substitution G A upstream_gene_variant MELA-AU 12 121837817 121837817 single base substitution C T upstream_gene_variant MELA-AU 12 121837857 121837857 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121837857 121837857 single base substitution G A upstream_gene_variant MELA-AU 12 121837875 121837875 single base substitution C T 5_prime_UTR_variant MELA-AU 12 121837875 121837875 single base substitution C T upstream_gene_variant MELA-AU 12 121838175 121838175 single base substitution C T intron_variant MELA-AU 12 121838516 121838516 single base substitution C T intron_variant MELA-AU 12 121839574 121839574 single base substitution A G intron_variant MELA-AU 12 121840959 121840959 single base substitution G A intron_variant MELA-AU 12 121842970 121842970 single base substitution G A intron_variant MELA-AU 12 121842970 121842970 single base substitution G A upstream_gene_variant MELA-AU 12 121844244 121844244 single base substitution C T intron_variant MELA-AU 12 121844244 121844244 single base substitution C T upstream_gene_variant MELA-AU 12 121844309 121844309 single base substitution C T intron_variant MELA-AU 12 121844309 121844309 single base substitution C T upstream_gene_variant MELA-AU 12 121844512 121844512 single base substitution A G intron_variant MELA-AU 12 121844512 121844512 single base substitution A G upstream_gene_variant MELA-AU 12 121845936 121845936 single base substitution C T intron_variant MELA-AU 12 121845936 121845936 single base substitution C T upstream_gene_variant MELA-AU 12 121846735 121846735 single base substitution G A intron_variant MELA-AU 12 121846735 121846735 single base substitution G A upstream_gene_variant MELA-AU 12 121847197 121847197 single base substitution G T intron_variant MELA-AU 12 121847197 121847197 single base substitution G T upstream_gene_variant MELA-AU 12 121847311 121847311 single base substitution C T 5_prime_UTR_variant MELA-AU 12 121847311 121847311 single base substitution C T intron_variant MELA-AU 12 121848094 121848094 single base substitution C G intron_variant MELA-AU 12 121850072 121850072 single base substitution C T intron_variant MELA-AU 12 121850335 121850335 single base substitution C T intron_variant MELA-AU 12 121851276 121851277 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 12 121851606 121851606 single base substitution C T intron_variant MELA-AU 12 121852644 121852644 single base substitution C T intron_variant MELA-AU 12 121854647 121854647 single base substitution G A downstream_gene_variant MELA-AU 12 121854647 121854647 single base substitution G A intron_variant MELA-AU 12 121854647 121854647 single base substitution G A upstream_gene_variant MELA-AU 12 121855011 121855011 single base substitution C T downstream_gene_variant MELA-AU 12 121855011 121855011 single base substitution C T intron_variant MELA-AU 12 121855011 121855011 single base substitution C T upstream_gene_variant MELA-AU 12 121856960 121856960 single base substitution A C downstream_gene_variant MELA-AU 12 121856960 121856960 single base substitution A C intron_variant MELA-AU 12 121856960 121856960 single base substitution A C upstream_gene_variant MELA-AU 12 121857768 121857768 single base substitution C T downstream_gene_variant MELA-AU 12 121857768 121857768 single base substitution C T exon_variant MELA-AU 12 121857768 121857768 single base substitution C T intron_variant MELA-AU 12 121858742 121858743 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121858742 121858743 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121860453 121860453 single base substitution C T downstream_gene_variant MELA-AU 12 121860453 121860453 single base substitution C T intron_variant MELA-AU 12 121861060 121861060 single base substitution T G downstream_gene_variant MELA-AU 12 121861060 121861060 single base substitution T G intron_variant MELA-AU 12 121861830 121861830 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121861830 121861830 single base substitution C T downstream_gene_variant MELA-AU 12 121861830 121861830 single base substitution C T exon_variant MELA-AU 12 121861830 121861830 single base substitution C T intron_variant MELA-AU 12 121863686 121863686 single base substitution C T downstream_gene_variant MELA-AU 12 121863686 121863686 single base substitution C T intron_variant MELA-AU 12 121864152 121864152 single base substitution A G downstream_gene_variant MELA-AU 12 121864152 121864152 single base substitution A G intron_variant MELA-AU 12 121864235 121864235 single base substitution C T downstream_gene_variant MELA-AU 12 121864235 121864235 single base substitution C T intron_variant MELA-AU 12 121865583 121865583 single base substitution A C downstream_gene_variant MELA-AU 12 121865583 121865583 single base substitution A C intron_variant MELA-AU 12 121866525 121866525 single base substitution C T downstream_gene_variant MELA-AU 12 121866525 121866525 single base substitution C T intron_variant MELA-AU 12 121866965 121866965 single base substitution C T downstream_gene_variant MELA-AU 12 121866965 121866965 single base substitution C T intron_variant MELA-AU 12 121868129 121868129 single base substitution C G synonymous_variant P452P 1356C>G MELA-AU 12 121869779 121869779 single base substitution C T downstream_gene_variant MELA-AU 12 121871807 121871807 single base substitution G A downstream_gene_variant MELA-AU 12 121872105 121872105 single base substitution G T downstream_gene_variant OV-AU 12 121855253 121855253 single base substitution A G downstream_gene_variant OV-AU 12 121855253 121855253 single base substitution A G intron_variant OV-AU 12 121855253 121855253 single base substitution A G upstream_gene_variant OV-AU 12 121855995 121855995 single base substitution T G downstream_gene_variant OV-AU 12 121855995 121855995 single base substitution T G exon_variant OV-AU 12 121855995 121855995 single base substitution T G intron_variant OV-AU 12 121855995 121855995 single base substitution T G upstream_gene_variant OV-AU 12 121858487 121858487 single base substitution G A downstream_gene_variant OV-AU 12 121858487 121858487 single base substitution G A exon_variant OV-AU 12 121858487 121858487 single base substitution G A intron_variant OV-AU 12 121858487 121858487 single base substitution G A synonymous_variant R278R 834G>A OV-AU 12 121858487 121858487 single base substitution G A synonymous_variant R279R 837G>A OV-AU 12 121869060 121869060 single base substitution G C downstream_gene_variant PACA-AU 12 121833120 121833120 single base substitution C T upstream_gene_variant PACA-AU 12 121833132 121833132 single base substitution C T upstream_gene_variant PACA-AU 12 121835952 121835952 single base substitution G A upstream_gene_variant PACA-AU 12 121841116 121841116 single base substitution G A intron_variant PACA-AU 12 121843754 121843754 single base substitution G T intron_variant PACA-AU 12 121843754 121843754 single base substitution G T upstream_gene_variant PACA-AU 12 121843921 121843921 single base substitution G T intron_variant PACA-AU 12 121843921 121843921 single base substitution G T upstream_gene_variant PACA-AU 12 121857163 121857163 single base substitution A G downstream_gene_variant PACA-AU 12 121857163 121857163 single base substitution A G intron_variant PACA-AU 12 121857163 121857163 single base substitution A G upstream_gene_variant PACA-AU 12 121867030 121867030 single base substitution G A downstream_gene_variant PACA-AU 12 121867030 121867030 single base substitution G A intron_variant PACA-CA 12 121834597 121834597 single base substitution A C upstream_gene_variant PACA-CA 12 121840803 121840803 single base substitution A C intron_variant PACA-CA 12 121841959 121841959 single base substitution C T intron_variant PACA-CA 12 121845319 121845319 single base substitution C T intron_variant PACA-CA 12 121845319 121845319 single base substitution C T upstream_gene_variant PACA-CA 12 121849211 121849211 single base substitution T G intron_variant PACA-CA 12 121853435 121853435 insertion of <=200bp - TAAA intron_variant PACA-CA 12 121853435 121853435 insertion of <=200bp - TAAA upstream_gene_variant PACA-CA 12 121853582 121853582 single base substitution A G intron_variant PACA-CA 12 121853582 121853582 single base substitution A G upstream_gene_variant PACA-CA 12 121854532 121854532 single base substitution T A downstream_gene_variant PACA-CA 12 121854532 121854532 single base substitution T A intron_variant PACA-CA 12 121854532 121854532 single base substitution T A upstream_gene_variant PACA-CA 12 121859494 121859494 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 121859494 121859494 deletion of <=200bp A - intron_variant PACA-CA 12 121861358 121861358 single base substitution C T 3_prime_UTR_variant PACA-CA 12 121861358 121861358 single base substitution C T downstream_gene_variant PACA-CA 12 121861358 121861358 single base substitution C T exon_variant PACA-CA 12 121861358 121861358 single base substitution C T intron_variant PACA-CA 12 121861358 121861358 single base substitution C T synonymous_variant A366A 1098C>T PACA-CA 12 121861358 121861358 single base substitution C T synonymous_variant A367A 1101C>T PACA-CA 12 121867040 121867040 single base substitution A C downstream_gene_variant PACA-CA 12 121867040 121867040 single base substitution A C intron_variant PACA-CA 12 121867674 121867674 insertion of <=200bp - A intron_variant PACA-CA 12 121869194 121869194 single base substitution C T downstream_gene_variant PACA-CA 12 121869350 121869350 single base substitution C A downstream_gene_variant PACA-CA 12 121872114 121872114 single base substitution G A downstream_gene_variant PAEN-AU 12 121841476 121841476 single base substitution T A intron_variant PAEN-AU 12 121845783 121845783 single base substitution C T intron_variant PAEN-AU 12 121845783 121845783 single base substitution C T upstream_gene_variant PAEN-AU 12 121862526 121862526 single base substitution A G downstream_gene_variant PAEN-AU 12 121862526 121862526 single base substitution A G intron_variant PAEN-AU 12 121866762 121866762 single base substitution C T downstream_gene_variant PAEN-AU 12 121866762 121866762 single base substitution C T intron_variant PAEN-IT 12 121833318 121833318 single base substitution A C upstream_gene_variant PBCA-DE 12 121837809 121837809 single base substitution G A upstream_gene_variant PBCA-DE 12 121844087 121844087 insertion of <=200bp - GTTGTTGTTGTTGTT intron_variant PBCA-DE 12 121844087 121844087 insertion of <=200bp - GTTGTTGTTGTTGTT upstream_gene_variant PBCA-DE 12 121851670 121851670 single base substitution G A intron_variant PBCA-DE 12 121868322 121868322 deletion of <=200bp C - 3_prime_UTR_variant PRAD-CA 12 121837169 121837169 single base substitution A G upstream_gene_variant PRAD-CA 12 121839951 121839951 single base substitution G A intron_variant PRAD-CA 12 121844410 121844410 single base substitution G A intron_variant PRAD-CA 12 121844410 121844410 single base substitution G A upstream_gene_variant PRAD-CA 12 121855412 121855412 single base substitution C G downstream_gene_variant PRAD-CA 12 121855412 121855412 single base substitution C G exon_variant PRAD-CA 12 121855412 121855412 single base substitution C G intron_variant PRAD-CA 12 121855412 121855412 single base substitution C G missense_variant Q104E 310C>G PRAD-CA 12 121855412 121855412 single base substitution C G missense_variant Q111E 331C>G PRAD-CA 12 121855412 121855412 single base substitution C G missense_variant Q112E 334C>G PRAD-CA 12 121855412 121855412 single base substitution C G upstream_gene_variant PRAD-UK 12 121843323 121843323 single base substitution G C intron_variant PRAD-UK 12 121843323 121843323 single base substitution G C upstream_gene_variant PRAD-UK 12 121867888 121867888 single base substitution C A missense_variant T372K 1115C>A RECA-EU 12 121841826 121841826 single base substitution T A intron_variant RECA-EU 12 121842708 121842708 single base substitution G T 5_prime_UTR_variant RECA-EU 12 121842708 121842708 single base substitution G T intron_variant RECA-EU 12 121842708 121842708 single base substitution G T upstream_gene_variant RECA-EU 12 121843670 121843670 single base substitution C A intron_variant RECA-EU 12 121843670 121843670 single base substitution C A upstream_gene_variant RECA-EU 12 121844116 121844116 single base substitution A T intron_variant RECA-EU 12 121844116 121844116 single base substitution A T upstream_gene_variant RECA-EU 12 121844722 121844722 single base substitution A G intron_variant RECA-EU 12 121844722 121844722 single base substitution A G upstream_gene_variant RECA-EU 12 121848646 121848646 single base substitution G C intron_variant RECA-EU 12 121850141 121850141 single base substitution C T intron_variant RECA-EU 12 121850885 121850885 single base substitution A G intron_variant RECA-EU 12 121856538 121856538 single base substitution T C downstream_gene_variant RECA-EU 12 121856538 121856538 single base substitution T C exon_variant RECA-EU 12 121856538 121856538 single base substitution T C intron_variant RECA-EU 12 121856538 121856538 single base substitution T C upstream_gene_variant RECA-EU 12 121859176 121859176 single base substitution A C downstream_gene_variant RECA-EU 12 121859176 121859176 single base substitution A C intron_variant RECA-EU 12 121859182 121859182 single base substitution A C downstream_gene_variant RECA-EU 12 121859182 121859182 single base substitution A C intron_variant RECA-EU 12 121866045 121866045 single base substitution G C downstream_gene_variant RECA-EU 12 121866045 121866045 single base substitution G C intron_variant RECA-EU 12 121870234 121870234 single base substitution T G downstream_gene_variant SKCA-BR 12 121833792 121833792 single base substitution G A upstream_gene_variant SKCA-BR 12 121835290 121835291 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 12 121835291 121835291 single base substitution C T upstream_gene_variant SKCA-BR 12 121844086 121844086 insertion of <=200bp - AGTTGTTGTTGTTGTT intron_variant SKCA-BR 12 121844086 121844086 insertion of <=200bp - AGTTGTTGTTGTTGTT upstream_gene_variant SKCA-BR 12 121850939 121850940 deletion of <=200bp CT - intron_variant SKCA-BR 12 121853164 121853164 single base substitution T C intron_variant SKCA-BR 12 121853164 121853164 single base substitution T C upstream_gene_variant SKCA-BR 12 121859174 121859174 insertion of <=200bp - TACAA downstream_gene_variant SKCA-BR 12 121859174 121859174 insertion of <=200bp - TACAA intron_variant SKCA-BR 12 121862837 121862837 single base substitution A C downstream_gene_variant SKCA-BR 12 121862837 121862837 single base substitution A C intron_variant SKCA-BR 12 121863919 121863919 single base substitution G A downstream_gene_variant SKCA-BR 12 121863919 121863919 single base substitution G A intron_variant SKCA-BR 12 121872267 121872268 deletion of <=200bp GC - downstream_gene_variant SKCM-US 12 121858580 121858580 single base substitution C T downstream_gene_variant SKCM-US 12 121858580 121858580 single base substitution C T intron_variant SKCM-US 12 121858580 121858580 single base substitution C T splice_region_variant STAD-US 12 121854119 121854119 single base substitution C T downstream_gene_variant STAD-US 12 121854119 121854119 single base substitution C T exon_variant STAD-US 12 121854119 121854119 single base substitution C T intron_variant STAD-US 12 121854119 121854119 single base substitution C T missense_variant T48M 143C>T STAD-US 12 121854119 121854119 single base substitution C T missense_variant T55M 164C>T STAD-US 12 121854119 121854119 single base substitution C T missense_variant T56M 167C>T STAD-US 12 121854119 121854119 single base substitution C T upstream_gene_variant STAD-US 12 121855521 121855521 single base substitution T C downstream_gene_variant STAD-US 12 121855521 121855521 single base substitution T C exon_variant STAD-US 12 121855521 121855521 single base substitution T C intron_variant STAD-US 12 121855521 121855521 single base substitution T C missense_variant V140A 419T>C STAD-US 12 121855521 121855521 single base substitution T C missense_variant V147A 440T>C STAD-US 12 121855521 121855521 single base substitution T C missense_variant V148A 443T>C STAD-US 12 121855521 121855521 single base substitution T C upstream_gene_variant STAD-US 12 121858092 121858092 single base substitution C T downstream_gene_variant STAD-US 12 121858092 121858092 single base substitution C T exon_variant STAD-US 12 121858092 121858092 single base substitution C T intron_variant STAD-US 12 121858092 121858092 single base substitution C T synonymous_variant D227D 681C>T STAD-US 12 121858092 121858092 single base substitution C T synonymous_variant D228D 684C>T STAD-US 12 121858580 121858580 single base substitution C A downstream_gene_variant STAD-US 12 121858580 121858580 single base substitution C A intron_variant STAD-US 12 121858580 121858580 single base substitution C A splice_region_variant STAD-US 12 121861308 121861308 single base substitution G A downstream_gene_variant STAD-US 12 121861308 121861308 single base substitution G A exon_variant STAD-US 12 121861308 121861308 single base substitution G A missense_variant G350S 1048G>A STAD-US 12 121861308 121861308 single base substitution G A missense_variant G351S 1051G>A STAD-US 12 121861308 121861308 single base substitution G A synonymous_variant A42A 126G>A STAD-US 12 121868063 121868063 single base substitution G A synonymous_variant P430P 1290G>A STAD-US 12 121868159 121868159 single base substitution T C synonymous_variant Y462Y 1386T>C THCA-US 12 121855480 121855480 single base substitution C T downstream_gene_variant THCA-US 12 121855480 121855480 single base substitution C T exon_variant THCA-US 12 121855480 121855480 single base substitution C T intron_variant THCA-US 12 121855480 121855480 single base substitution C T synonymous_variant P126P 378C>T THCA-US 12 121855480 121855480 single base substitution C T synonymous_variant P133P 399C>T THCA-US 12 121855480 121855480 single base substitution C T synonymous_variant P134P 402C>T THCA-US 12 121855480 121855480 single base substitution C T upstream_gene_variant UCEC-US 12 121854123 121854123 single base substitution A C downstream_gene_variant UCEC-US 12 121854123 121854123 single base substitution A C exon_variant UCEC-US 12 121854123 121854123 single base substitution A C intron_variant UCEC-US 12 121854123 121854123 single base substitution A C missense_variant E49D 147A>C UCEC-US 12 121854123 121854123 single base substitution A C missense_variant E56D 168A>C UCEC-US 12 121854123 121854123 single base substitution A C missense_variant E57D 171A>C UCEC-US 12 121854123 121854123 single base substitution A C upstream_gene_variant UCEC-US 12 121855494 121855494 single base substitution G A downstream_gene_variant UCEC-US 12 121855494 121855494 single base substitution G A exon_variant UCEC-US 12 121855494 121855494 single base substitution G A intron_variant UCEC-US 12 121855494 121855494 single base substitution G A missense_variant R131H 392G>A UCEC-US 12 121855494 121855494 single base substitution G A missense_variant R138H 413G>A UCEC-US 12 121855494 121855494 single base substitution G A missense_variant R139H 416G>A UCEC-US 12 121855494 121855494 single base substitution G A upstream_gene_variant UCEC-US 12 121855615 121855615 single base substitution G A downstream_gene_variant UCEC-US 12 121855615 121855615 single base substitution G A exon_variant UCEC-US 12 121855615 121855615 single base substitution G A intron_variant UCEC-US 12 121855615 121855615 single base substitution G A synonymous_variant S178S 534G>A UCEC-US 12 121855615 121855615 single base substitution G A synonymous_variant S179S 537G>A UCEC-US 12 121855615 121855615 single base substitution G A upstream_gene_variant UCEC-US 12 121858093 121858093 single base substitution G A downstream_gene_variant UCEC-US 12 121858093 121858093 single base substitution G A exon_variant UCEC-US 12 121858093 121858093 single base substitution G A intron_variant UCEC-US 12 121858093 121858093 single base substitution G A missense_variant D228N 682G>A UCEC-US 12 121858093 121858093 single base substitution G A missense_variant D229N 685G>A UCEC-US 12 121858458 121858458 single base substitution G A downstream_gene_variant UCEC-US 12 121858458 121858458 single base substitution G A exon_variant UCEC-US 12 121858458 121858458 single base substitution G A intron_variant UCEC-US 12 121858458 121858458 single base substitution G A missense_variant V269M 805G>A UCEC-US 12 121858458 121858458 single base substitution G A missense_variant V270M 808G>A UCEC-US 12 121861193 121861193 single base substitution C T downstream_gene_variant UCEC-US 12 121861193 121861193 single base substitution C T exon_variant UCEC-US 12 121861193 121861193 single base substitution C T missense_variant A4V 11C>T UCEC-US 12 121861193 121861193 single base substitution C T synonymous_variant G311G 933C>T UCEC-US 12 121861193 121861193 single base substitution C T synonymous_variant G312G 936C>T UCEC-US 12 121868162 121868162 single base substitution A G synonymous_variant E463E 1389A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD4120a COSM164064 c.1077C>T p.I359I Substitution - coding silent 12:121423531-121423531 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.292804 12q24.31 608299 1511899|dbSNP|BC007826|C/T|non-coding||1865|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.9+2120A>C 12 121842730 HC A C IntronicSNV . c.9+2132A>C 12 121842742 HC A T IntronicSNV . c.9+2130A>T 12 121842740 HC A T IntronicSNV . c.9+2132A>T 12 121842742 HC C A Synonymous p.S310S c.930C>A 12 121858580 STAD C T 5-UTRSNV . c.1-2638C>T 12 121837964 CM C T Missense p.T109I c.326C>T 12 121855404 LUSC C T Synonymous p.I359I c.1077C>T 12 121861334 BRCA C T Synonymous p.L130L c.388C>T 12 121855466 CM C T Synonymous p.P134P c.402C>T 12 121855480 THCA G A 5-UTRSNV . c.1-2633G>A 12 121837969 CM G A Missense p.C360Y c.1079G>A 12 121861336 RCCC G A Missense p.V270M c.808G>A 12 121858458 UCEC G A Missense p.V333I c.997G>A 12 121861254 STAD T C Synonymous p.D226D c.678T>C 12 121858086 STAD T G Missense p.Y284D c.850T>G 12 121858500 BLCA