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 58000773 58000773 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr12:58000773G>A c.127G>A c.(127-129)Gag>Aag p.E43K BLCA 12 58000957 58000957 + Missense_Mutation SNP G G T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr12:58000957G>T c.311G>T c.(310-312)gGc>gTc p.G104V BLCA 12 58001053 58001053 + Missense_Mutation SNP G G A TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr12:58001053G>A c.407G>A c.(406-408)cGg>cAg p.R136Q BLCA 12 58001129 58001129 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr12:58001129G>C c.483G>C c.(481-483)gaG>gaC p.E161D BLCA 12 58002422 58002422 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:58002422C>T c.870C>T c.(868-870)ctC>ctT p.L290L BLCA 12 58002887 58002887 + Silent SNP G G T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr12:58002887G>T c.996G>T c.(994-996)ctG>ctT p.L332L BLCA 12 58002908 58002908 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr12:58002908G>C c.1017G>C c.(1015-1017)ctG>ctC p.L339L BRCA 12 58000767 58000767 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:58000767C>T c.121C>T c.(121-123)Cgg>Tgg p.R41W BRCA 12 58000854 58000854 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr12:58000854G>A c.208G>A c.(208-210)Gcc>Acc p.A70T BRCA 12 58002372 58002372 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr12:58002372G>A c.820G>A c.(820-822)Gag>Aag p.E274K CESC 12 58001319 58001319 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:58001319G>A c.673G>A c.(673-675)Gcc>Acc p.A225T CESC 12 58002422 58002422 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr12:58002422C>T c.870C>T c.(868-870)ctC>ctT p.L290L COAD 12 58001097 58001097 + Missense_Mutation SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr12:58001097C>T c.451C>T c.(451-453)Cct>Tct p.P151S COAD 12 58001351 58001351 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:58001351C>T c.705C>T c.(703-705)taC>taT p.Y235Y COAD 12 58001373 58001373 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:58001373G>A c.727G>A c.(727-729)Gtc>Atc p.V243I COADREAD 12 58000803 58000803 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58000803G>A c.157G>A c.(157-159)Gag>Aag p.E53K COADREAD 12 58001097 58001097 + Missense_Mutation SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr12:58001097C>T c.451C>T c.(451-453)Cct>Tct p.P151S COADREAD 12 58001351 58001351 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:58001351C>T c.705C>T c.(703-705)taC>taT p.Y235Y COADREAD 12 58001373 58001373 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:58001373G>A c.727G>A c.(727-729)Gtc>Atc p.V243I HNSC 12 58000719 58000719 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr12:58000719G>A c.73G>A c.(73-75)Gtg>Atg p.V25M HNSC 12 58001107 58001107 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr12:58001107G>T c.461G>T c.(460-462)cGg>cTg p.R154L HNSC 12 58002418 58002418 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 g.chr12:58002418G>A c.866G>A c.(865-867)cGt>cAt p.R289H HNSC 12 58002900 58002900 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:58002900G>A c.1009G>A c.(1009-1011)Gag>Aag p.E337K HNSC 12 58002908 58002908 + Silent SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:58002908G>A c.1017G>A c.(1015-1017)ctG>ctA p.L339L HNSC 12 58002910 58002910 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:58002910G>A c.1019G>A c.(1018-1020)aGa>aAa p.R340K KIPAN 12 58000848 58000848 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:58000848delC c.202delC c.(202-204)cccfs p.P69fs KIPAN 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:58001073delC c.427delC c.(427-429)cccfs p.P144fs KIRC 12 58000848 58000848 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:58000848delC c.202delC c.(202-204)cccfs p.P69fs KIRC 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:58001073delC c.427delC c.(427-429)cccfs p.P144fs LIHC 12 58001004 58001004 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr12:58001004G>A c.358G>A c.(358-360)Gca>Aca p.A120T LIHC 12 58001020 58001020 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr12:58001020T>A c.374T>A c.(373-375)cTc>cAc p.L125H LIHC 12 58001168 58001168 + Silent SNP C C T TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr12:58001168C>T c.522C>T c.(520-522)gcC>gcT p.A174A LIHC 12 58001190 58001190 + Missense_Mutation SNP C C T TCGA-DD-A3A4-01A-11D-A22F-10 TCGA-DD-A3A4-11A-11D-A22F-10 g.chr12:58001190C>T c.544C>T c.(544-546)Cat>Tat p.H182Y LIHC 12 58001298 58001298 + Missense_Mutation SNP C C T TCGA-DD-A4NH-01A-11D-A27I-10 TCGA-DD-A4NH-10A-01D-A27I-10 g.chr12:58001298C>T c.652C>T c.(652-654)Cgg>Tgg p.R218W LIHC 12 58002913 58002913 + Missense_Mutation SNP C C T TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr12:58002913C>T c.1022C>T c.(1021-1023)gCg>gTg p.A341V LUAD 12 58000747 58000747 + Missense_Mutation SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:58000747C>T c.101C>T c.(100-102)cCa>cTa p.P34L LUAD 12 58000752 58000752 + Missense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr12:58000752C>T c.106C>T c.(106-108)Cgg>Tgg p.R36W LUAD 12 58000753 58000753 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr12:58000753G>T c.107G>T c.(106-108)cGg>cTg p.R36L LUAD 12 58000810 58000810 + Missense_Mutation SNP C C T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr12:58000810C>T c.164C>T c.(163-165)tCt>tTt p.S55F LUAD 12 58001202 58001202 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr12:58001202G>T c.556G>T c.(556-558)Gag>Tag p.E186* LUAD 12 58001239 58001239 + Missense_Mutation SNP C C A TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr12:58001239C>A c.593C>A c.(592-594)gCc>gAc p.A198D LUSC 12 58000741 58000741 + Missense_Mutation SNP A A T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr12:58000741A>T c.95A>T c.(94-96)gAg>gTg p.E32V LUSC 12 58001040 58001040 + Frame_Shift_Del DEL C C - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr12:58001040delC c.394delC c.(394-396)cccfs p.P133fs OV 12 58000985 58000985 + Silent SNP G G A TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 g.chr12:58000985G>A c.339G>A c.(337-339)gaG>gaA p.E113E PRAD 12 58002362 58002362 + Silent SNP G G A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr12:58002362G>A c.810G>A c.(808-810)ccG>ccA p.P270P READ 12 58000803 58000803 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58000803G>A c.157G>A c.(157-159)Gag>Aag p.E53K SARC 12 58002321 58002321 + Missense_Mutation SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 g.chr12:58002321G>A c.769G>A c.(769-771)Gga>Aga p.G257R SARC 12 58002927 58002937 + Stop_Codon_Del DEL GATGACTGAAG GATGACTGAAG - TCGA-WK-A8XO-01A-11D-A37C-09 TCGA-WK-A8XO-10A-01D-A37F-09 g.chr12:58002927_58002937delGATGACTGAAG SKCM 12 58000659 58000659 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr12:58000659C>T c.13C>T c.(13-15)Ctg>Ttg p.L5L SKCM 12 58000683 58000683 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr12:58000683G>A c.37G>A c.(37-39)Ggc>Agc p.G13S SKCM 12 58000757 58000757 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:58000757G>A c.111G>A c.(109-111)ctG>ctA p.L37L SKCM 12 58000787 58000787 + Silent SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr12:58000787C>T c.141C>T c.(139-141)tcC>tcT p.S47S SKCM 12 58001016 58001016 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:58001016C>T c.370C>T c.(370-372)Cct>Tct p.P124S SKCM 12 58001063 58001063 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:58001063C>T c.417C>T c.(415-417)ccC>ccT p.P139P SKCM 12 58001064 58001064 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:58001064C>T c.418C>T c.(418-420)Cct>Tct p.P140S SKCM 12 58001367 58001367 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr12:58001367C>T c.721C>T c.(721-723)Cag>Tag p.Q241* SKCM 12 58002893 58002893 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:58002893G>A c.1002G>A c.(1000-1002)cgG>cgA p.R334R

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 57994197 57994197 single base substitution G C upstream_gene_variant BLCA-US 12 58001129 58001129 single base substitution G C downstream_gene_variant BLCA-US 12 58001129 58001129 single base substitution G C missense_variant E154D 462G>C BLCA-US 12 58001129 58001129 single base substitution G C missense_variant E161D 483G>C BLCA-US 12 58001129 58001129 single base substitution G C missense_variant E164D 492G>C BLCA-US 12 58001129 58001129 single base substitution G C upstream_gene_variant BRCA-EU 12 57993707 57993707 single base substitution G C upstream_gene_variant BRCA-EU 12 57993944 57993944 single base substitution G A upstream_gene_variant BRCA-EU 12 57996127 57996127 single base substitution G C upstream_gene_variant BRCA-EU 12 57997287 57997287 single base substitution G A upstream_gene_variant BRCA-EU 12 57997457 57997457 single base substitution G A upstream_gene_variant BRCA-EU 12 58000797 58000797 single base substitution G A downstream_gene_variant BRCA-EU 12 58000797 58000797 single base substitution G A missense_variant D44N 130G>A BRCA-EU 12 58000797 58000797 single base substitution G A missense_variant D51N 151G>A BRCA-EU 12 58000797 58000797 single base substitution G A missense_variant D54N 160G>A BRCA-EU 12 58000797 58000797 single base substitution G A upstream_gene_variant BRCA-EU 12 58001077 58001077 single base substitution C A downstream_gene_variant BRCA-EU 12 58001077 58001077 single base substitution C A missense_variant P137H 410C>A BRCA-EU 12 58001077 58001077 single base substitution C A missense_variant P144H 431C>A BRCA-EU 12 58001077 58001077 single base substitution C A missense_variant P147H 440C>A BRCA-EU 12 58001077 58001077 single base substitution C A upstream_gene_variant BRCA-EU 12 58002192 58002192 single base substitution G A downstream_gene_variant BRCA-EU 12 58002192 58002192 single base substitution G A intron_variant BRCA-EU 12 58004789 58004789 single base substitution G T downstream_gene_variant BRCA-EU 12 58006838 58006838 single base substitution G A downstream_gene_variant BRCA-EU 12 58007919 58007919 insertion of <=200bp - T downstream_gene_variant BRCA-FR 12 58006838 58006838 single base substitution G A downstream_gene_variant BRCA-KR 12 58002407 58002407 single base substitution G A downstream_gene_variant BRCA-KR 12 58002407 58002407 single base substitution G A synonymous_variant A285A 855G>A BRCA-KR 12 58002407 58002407 single base substitution G A synonymous_variant A288A 864G>A BRCA-KR 12 58002407 58002407 single base substitution G A synonymous_variant A73A 219G>A BRCA-UK 12 57994832 57994832 single base substitution T C upstream_gene_variant BRCA-UK 12 57996752 57996752 single base substitution A T upstream_gene_variant BRCA-UK 12 58008166 58008166 single base substitution C T downstream_gene_variant BRCA-US 12 57994184 57994184 single base substitution G C upstream_gene_variant BRCA-US 12 58000767 58000767 single base substitution C T downstream_gene_variant BRCA-US 12 58000767 58000767 single base substitution C T missense_variant R34W 100C>T BRCA-US 12 58000767 58000767 single base substitution C T missense_variant R41W 121C>T BRCA-US 12 58000767 58000767 single base substitution C T missense_variant R44W 130C>T BRCA-US 12 58000767 58000767 single base substitution C T upstream_gene_variant BRCA-US 12 58000854 58000854 single base substitution G A downstream_gene_variant BRCA-US 12 58000854 58000854 single base substitution G A missense_variant A63T 187G>A BRCA-US 12 58000854 58000854 single base substitution G A missense_variant A70T 208G>A BRCA-US 12 58000854 58000854 single base substitution G A missense_variant A73T 217G>A BRCA-US 12 58000854 58000854 single base substitution G A upstream_gene_variant BRCA-US 12 58002372 58002372 single base substitution G A downstream_gene_variant BRCA-US 12 58002372 58002372 single base substitution G A missense_variant E274K 820G>A BRCA-US 12 58002372 58002372 single base substitution G A missense_variant E277K 829G>A BRCA-US 12 58002372 58002372 single base substitution G A missense_variant E62K 184G>A BRCA-US 12 58007866 58007866 single base substitution T C downstream_gene_variant BRCA-US 12 58008164 58008164 single base substitution C T downstream_gene_variant BTCA-JP 12 57994053 57994053 single base substitution C T upstream_gene_variant BTCA-JP 12 57994254 57994254 deletion of <=200bp T - upstream_gene_variant BTCA-JP 12 57995283 57995284 deletion of <=200bp AT - upstream_gene_variant BTCA-JP 12 58000623 58000623 single base substitution T C 5_prime_UTR_variant BTCA-JP 12 58000623 58000623 single base substitution T C downstream_gene_variant BTCA-JP 12 58000623 58000623 single base substitution T C intron_variant BTCA-JP 12 58000623 58000623 single base substitution T C upstream_gene_variant BTCA-JP 12 58000747 58000747 single base substitution C A downstream_gene_variant BTCA-JP 12 58000747 58000747 single base substitution C A missense_variant P27Q 80C>A BTCA-JP 12 58000747 58000747 single base substitution C A missense_variant P34Q 101C>A BTCA-JP 12 58000747 58000747 single base substitution C A missense_variant P37Q 110C>A BTCA-JP 12 58000747 58000747 single base substitution C A upstream_gene_variant BTCA-JP 12 58000895 58000895 single base substitution G A downstream_gene_variant BTCA-JP 12 58000895 58000895 single base substitution G A synonymous_variant K76K 228G>A BTCA-JP 12 58000895 58000895 single base substitution G A synonymous_variant K83K 249G>A BTCA-JP 12 58000895 58000895 single base substitution G A synonymous_variant K86K 258G>A BTCA-JP 12 58000895 58000895 single base substitution G A upstream_gene_variant BTCA-JP 12 58001023 58001023 single base substitution G A downstream_gene_variant BTCA-JP 12 58001023 58001023 single base substitution G A missense_variant R119Q 356G>A BTCA-JP 12 58001023 58001023 single base substitution G A missense_variant R126Q 377G>A BTCA-JP 12 58001023 58001023 single base substitution G A missense_variant R129Q 386G>A BTCA-JP 12 58001023 58001023 single base substitution G A upstream_gene_variant BTCA-JP 12 58005763 58005763 deletion of <=200bp G - downstream_gene_variant BTCA-JP 12 58006912 58006912 single base substitution G T downstream_gene_variant BTCA-JP 12 58007189 58007189 single base substitution C T downstream_gene_variant BTCA-JP 12 58008058 58008058 single base substitution C T downstream_gene_variant BTCA-JP 12 58008348 58008348 single base substitution C T downstream_gene_variant CESC-US 12 58001319 58001319 single base substitution G A downstream_gene_variant CESC-US 12 58001319 58001319 single base substitution G A missense_variant A13T 37G>A CESC-US 12 58001319 58001319 single base substitution G A missense_variant A225T 673G>A CESC-US 12 58001319 58001319 single base substitution G A missense_variant A228T 682G>A CESC-US 12 58002422 58002422 single base substitution C T downstream_gene_variant CESC-US 12 58002422 58002422 single base substitution C T synonymous_variant L290L 870C>T CESC-US 12 58002422 58002422 single base substitution C T synonymous_variant L293L 879C>T CESC-US 12 58002422 58002422 single base substitution C T synonymous_variant L78L 234C>T CESC-US 12 58007421 58007421 single base substitution G A downstream_gene_variant CLLE-ES 12 58003146 58003146 single base substitution G A 3_prime_UTR_variant CLLE-ES 12 58003146 58003146 single base substitution G A downstream_gene_variant COAD-US 12 57994176 57994178 deletion of <=200bp GAG - upstream_gene_variant COAD-US 12 57994679 57994679 single base substitution C G upstream_gene_variant COAD-US 12 58001097 58001097 single base substitution C T downstream_gene_variant COAD-US 12 58001097 58001097 single base substitution C T missense_variant P144S 430C>T COAD-US 12 58001097 58001097 single base substitution C T missense_variant P151S 451C>T COAD-US 12 58001097 58001097 single base substitution C T missense_variant P154S 460C>T COAD-US 12 58001097 58001097 single base substitution C T upstream_gene_variant COAD-US 12 58001351 58001351 single base substitution C T downstream_gene_variant COAD-US 12 58001351 58001351 single base substitution C T synonymous_variant Y235Y 705C>T COAD-US 12 58001351 58001351 single base substitution C T synonymous_variant Y238Y 714C>T COAD-US 12 58001351 58001351 single base substitution C T synonymous_variant Y23Y 69C>T COAD-US 12 58005763 58005763 deletion of <=200bp G - downstream_gene_variant COAD-US 12 58006741 58006741 single base substitution G A downstream_gene_variant COAD-US 12 58006877 58006877 single base substitution T G downstream_gene_variant COAD-US 12 58007138 58007138 single base substitution C T downstream_gene_variant COAD-US 12 58007845 58007845 single base substitution G A downstream_gene_variant COCA-CN 12 57995030 57995030 single base substitution G T upstream_gene_variant COCA-CN 12 57995355 57995355 single base substitution G A upstream_gene_variant COCA-CN 12 58000767 58000767 single base substitution C T downstream_gene_variant COCA-CN 12 58000767 58000767 single base substitution C T missense_variant R34W 100C>T COCA-CN 12 58000767 58000767 single base substitution C T missense_variant R41W 121C>T COCA-CN 12 58000767 58000767 single base substitution C T missense_variant R44W 130C>T COCA-CN 12 58000767 58000767 single base substitution C T upstream_gene_variant COCA-CN 12 58000780 58000780 single base substitution G A downstream_gene_variant COCA-CN 12 58000780 58000780 single base substitution G A missense_variant R38H 113G>A COCA-CN 12 58000780 58000780 single base substitution G A missense_variant R45H 134G>A COCA-CN 12 58000780 58000780 single base substitution G A missense_variant R48H 143G>A COCA-CN 12 58000780 58000780 single base substitution G A upstream_gene_variant COCA-CN 12 58000908 58000908 single base substitution G T downstream_gene_variant COCA-CN 12 58000908 58000908 single base substitution G T stop_gained E81* 241G>T COCA-CN 12 58000908 58000908 single base substitution G T stop_gained E88* 262G>T COCA-CN 12 58000908 58000908 single base substitution G T stop_gained E91* 271G>T COCA-CN 12 58000908 58000908 single base substitution G T upstream_gene_variant COCA-CN 12 58001003 58001003 single base substitution C T downstream_gene_variant COCA-CN 12 58001003 58001003 single base substitution C T synonymous_variant R112R 336C>T COCA-CN 12 58001003 58001003 single base substitution C T synonymous_variant R119R 357C>T COCA-CN 12 58001003 58001003 single base substitution C T synonymous_variant R122R 366C>T COCA-CN 12 58001003 58001003 single base substitution C T upstream_gene_variant COCA-CN 12 58001500 58001500 single base substitution C A downstream_gene_variant COCA-CN 12 58001500 58001500 single base substitution C A intron_variant COCA-CN 12 58005273 58005273 single base substitution C G downstream_gene_variant COCA-CN 12 58005843 58005843 single base substitution C T downstream_gene_variant COCA-CN 12 58007036 58007036 single base substitution C A downstream_gene_variant COCA-CN 12 58007149 58007149 single base substitution G C downstream_gene_variant COCA-CN 12 58007438 58007438 single base substitution C T downstream_gene_variant COCA-CN 12 58008159 58008159 single base substitution G T downstream_gene_variant ESAD-UK 12 57993761 57993761 single base substitution C T upstream_gene_variant ESAD-UK 12 57995178 57995178 single base substitution G A upstream_gene_variant ESAD-UK 12 57998567 57998567 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 57998567 57998567 single base substitution T C upstream_gene_variant ESAD-UK 12 57999989 57999989 single base substitution G A 5_prime_UTR_variant ESAD-UK 12 57999989 57999989 single base substitution G A upstream_gene_variant ESAD-UK 12 57999996 57999996 single base substitution G A 5_prime_UTR_variant ESAD-UK 12 57999996 57999996 single base substitution G A upstream_gene_variant ESAD-UK 12 58000127 58000127 single base substitution C T intron_variant ESAD-UK 12 58000127 58000127 single base substitution C T upstream_gene_variant ESAD-UK 12 58004136 58004136 single base substitution C T downstream_gene_variant ESAD-UK 12 58004248 58004248 single base substitution C G downstream_gene_variant ESAD-UK 12 58006371 58006371 single base substitution G A downstream_gene_variant GBM-US 12 57994645 57994645 single base substitution G T upstream_gene_variant GBM-US 12 57994848 57994848 single base substitution C G upstream_gene_variant KIRC-US 12 57995122 57995122 single base substitution C G upstream_gene_variant KIRC-US 12 58004440 58004440 single base substitution G T downstream_gene_variant KIRC-US 12 58008143 58008143 single base substitution T A downstream_gene_variant LAML-KR 12 57998738 57998738 single base substitution A C 5_prime_UTR_variant LAML-KR 12 57998738 57998738 single base substitution A C intron_variant LAML-KR 12 57998738 57998738 single base substitution A C upstream_gene_variant LICA-CN 12 58005759 58005759 single base substitution G T downstream_gene_variant LICA-CN 12 58005764 58005764 single base substitution G A downstream_gene_variant LICA-FR 12 58000674 58000674 single base substitution G A downstream_gene_variant LICA-FR 12 58000674 58000674 single base substitution G A missense_variant A10T 28G>A LICA-FR 12 58000674 58000674 single base substitution G A missense_variant A13T 37G>A LICA-FR 12 58000674 58000674 single base substitution G A missense_variant A3T 7G>A LICA-FR 12 58000674 58000674 single base substitution G A upstream_gene_variant LICA-FR 12 58001289 58001289 single base substitution C T downstream_gene_variant LICA-FR 12 58001289 58001289 single base substitution C T stop_gained Q215* 643C>T LICA-FR 12 58001289 58001289 single base substitution C T stop_gained Q218* 652C>T LICA-FR 12 58001289 58001289 single base substitution C T stop_gained Q3* 7C>T LICA-FR 12 58002376 58002376 single base substitution G A downstream_gene_variant LICA-FR 12 58002376 58002376 single base substitution G A missense_variant G275D 824G>A LICA-FR 12 58002376 58002376 single base substitution G A missense_variant G278D 833G>A LICA-FR 12 58002376 58002376 single base substitution G A missense_variant G63D 188G>A LICA-FR 12 58004388 58004388 single base substitution C T downstream_gene_variant LICA-FR 12 58004823 58004823 single base substitution C T downstream_gene_variant LIHC-US 12 58001020 58001020 single base substitution T A downstream_gene_variant LIHC-US 12 58001020 58001020 single base substitution T A missense_variant L118H 353T>A LIHC-US 12 58001020 58001020 single base substitution T A missense_variant L125H 374T>A LIHC-US 12 58001020 58001020 single base substitution T A missense_variant L128H 383T>A LIHC-US 12 58001020 58001020 single base substitution T A upstream_gene_variant LIHC-US 12 58001190 58001190 single base substitution C T downstream_gene_variant LIHC-US 12 58001190 58001190 single base substitution C T missense_variant H175Y 523C>T LIHC-US 12 58001190 58001190 single base substitution C T missense_variant H182Y 544C>T LIHC-US 12 58001190 58001190 single base substitution C T missense_variant H185Y 553C>T LIHC-US 12 58001190 58001190 single base substitution C T upstream_gene_variant LIHC-US 12 58001298 58001298 single base substitution C T downstream_gene_variant LIHC-US 12 58001298 58001298 single base substitution C T missense_variant R218W 652C>T LIHC-US 12 58001298 58001298 single base substitution C T missense_variant R221W 661C>T LIHC-US 12 58001298 58001298 single base substitution C T missense_variant R6W 16C>T LIHC-US 12 58002913 58002913 single base substitution C T 3_prime_UTR_variant LIHC-US 12 58002913 58002913 single base substitution C T downstream_gene_variant LIHC-US 12 58002913 58002913 single base substitution C T missense_variant A341V 1022C>T LIHC-US 12 58002913 58002913 single base substitution C T missense_variant A344V 1031C>T LIHC-US 12 58008160 58008160 single base substitution C T downstream_gene_variant LINC-JP 12 57996937 57996937 single base substitution A G upstream_gene_variant LINC-JP 12 58005678 58005678 single base substitution A G downstream_gene_variant LINC-JP 12 58007331 58007331 single base substitution A T downstream_gene_variant LIRI-JP 12 57993744 57993744 single base substitution T A upstream_gene_variant LIRI-JP 12 57995190 57995190 single base substitution T G upstream_gene_variant LIRI-JP 12 58000779 58000779 single base substitution C T downstream_gene_variant LIRI-JP 12 58000779 58000779 single base substitution C T missense_variant R38C 112C>T LIRI-JP 12 58000779 58000779 single base substitution C T missense_variant R45C 133C>T LIRI-JP 12 58000779 58000779 single base substitution C T missense_variant R48C 142C>T LIRI-JP 12 58000779 58000779 single base substitution C T upstream_gene_variant LIRI-JP 12 58001384 58001384 single base substitution C T downstream_gene_variant LIRI-JP 12 58001384 58001384 single base substitution C T synonymous_variant P246P 738C>T LIRI-JP 12 58001384 58001384 single base substitution C T synonymous_variant P249P 747C>T LIRI-JP 12 58001384 58001384 single base substitution C T synonymous_variant P34P 102C>T LIRI-JP 12 58002802 58002802 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 58002802 58002802 single base substitution G A downstream_gene_variant LIRI-JP 12 58002802 58002802 single base substitution G A intron_variant LIRI-JP 12 58006622 58006622 single base substitution T A downstream_gene_variant LUSC-CN 12 57999881 57999881 single base substitution G A 5_prime_UTR_variant LUSC-CN 12 57999881 57999881 single base substitution G A intron_variant LUSC-CN 12 57999881 57999881 single base substitution G A upstream_gene_variant LUSC-CN 12 58000437 58000437 single base substitution G A 5_prime_UTR_variant LUSC-CN 12 58000437 58000437 single base substitution G A downstream_gene_variant LUSC-CN 12 58000437 58000437 single base substitution G A intron_variant LUSC-CN 12 58000437 58000437 single base substitution G A upstream_gene_variant LUSC-CN 12 58001171 58001171 single base substitution G A downstream_gene_variant LUSC-CN 12 58001171 58001171 single base substitution G A synonymous_variant K168K 504G>A LUSC-CN 12 58001171 58001171 single base substitution G A synonymous_variant K175K 525G>A LUSC-CN 12 58001171 58001171 single base substitution G A synonymous_variant K178K 534G>A LUSC-CN 12 58001171 58001171 single base substitution G A upstream_gene_variant LUSC-CN 12 58001404 58001404 single base substitution G A downstream_gene_variant LUSC-CN 12 58001404 58001404 single base substitution G A intron_variant LUSC-CN 12 58001404 58001404 single base substitution G A splice_region_variant LUSC-CN 12 58007211 58007211 single base substitution C T downstream_gene_variant LUSC-KR 12 57993746 57993746 single base substitution G A upstream_gene_variant LUSC-KR 12 57996220 57996220 single base substitution C T upstream_gene_variant LUSC-KR 12 58002861 58002861 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 58002861 58002861 single base substitution T C downstream_gene_variant LUSC-KR 12 58002861 58002861 single base substitution T C missense_variant F324L 970T>C LUSC-KR 12 58002861 58002861 single base substitution T C missense_variant F327L 979T>C LUSC-KR 12 58007340 58007340 single base substitution A G downstream_gene_variant LUSC-US 12 57994176 57994176 single base substitution G A upstream_gene_variant LUSC-US 12 58000741 58000741 single base substitution A T downstream_gene_variant LUSC-US 12 58000741 58000741 single base substitution A T missense_variant E25V 74A>T LUSC-US 12 58000741 58000741 single base substitution A T missense_variant E32V 95A>T LUSC-US 12 58000741 58000741 single base substitution A T missense_variant E35V 104A>T LUSC-US 12 58000741 58000741 single base substitution A T upstream_gene_variant LUSC-US 12 58001040 58001040 deletion of <=200bp C - downstream_gene_variant LUSC-US 12 58001040 58001040 deletion of <=200bp C - frameshift_variant P125 LUSC-US 12 58001040 58001040 deletion of <=200bp C - frameshift_variant P132 LUSC-US 12 58001040 58001040 deletion of <=200bp C - frameshift_variant P135 LUSC-US 12 58001040 58001040 deletion of <=200bp C - upstream_gene_variant LUSC-US 12 58006770 58006770 single base substitution T G downstream_gene_variant LUSC-US 12 58007895 58007895 single base substitution C T downstream_gene_variant MALY-DE 12 57997287 57997287 single base substitution G A upstream_gene_variant MALY-DE 12 58000272 58000272 single base substitution C A 5_prime_UTR_variant MALY-DE 12 58000272 58000272 single base substitution C A upstream_gene_variant MALY-DE 12 58000613 58000613 insertion of <=200bp - C 5_prime_UTR_variant MALY-DE 12 58000613 58000613 insertion of <=200bp - C downstream_gene_variant MALY-DE 12 58000613 58000613 insertion of <=200bp - C intron_variant MALY-DE 12 58000613 58000613 insertion of <=200bp - C upstream_gene_variant MELA-AU 12 57993873 57993873 single base substitution C T upstream_gene_variant MELA-AU 12 57994732 57994732 single base substitution C T upstream_gene_variant MELA-AU 12 57995189 57995189 single base substitution C T upstream_gene_variant MELA-AU 12 57995483 57995483 single base substitution C T upstream_gene_variant MELA-AU 12 57995608 57995608 single base substitution C T upstream_gene_variant MELA-AU 12 57995865 57995865 single base substitution C T upstream_gene_variant MELA-AU 12 57995922 57995922 single base substitution C A upstream_gene_variant MELA-AU 12 57996182 57996182 single base substitution C T upstream_gene_variant MELA-AU 12 57996245 57996245 single base substitution G A upstream_gene_variant MELA-AU 12 57996262 57996262 single base substitution A C upstream_gene_variant MELA-AU 12 57998290 57998290 single base substitution G A upstream_gene_variant MELA-AU 12 57998423 57998423 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57998423 57998423 single base substitution G A upstream_gene_variant MELA-AU 12 57998484 57998484 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57998484 57998484 single base substitution G A upstream_gene_variant MELA-AU 12 57998606 57998606 single base substitution C T 5_prime_UTR_variant MELA-AU 12 57998606 57998606 single base substitution C T upstream_gene_variant MELA-AU 12 57999641 57999641 deletion of <=200bp G - 5_prime_UTR_variant MELA-AU 12 57999641 57999641 deletion of <=200bp G - intron_variant MELA-AU 12 57999641 57999641 deletion of <=200bp G - upstream_gene_variant MELA-AU 12 57999968 57999968 single base substitution C T 5_prime_UTR_variant MELA-AU 12 57999968 57999968 single base substitution C T splice_region_variant MELA-AU 12 57999968 57999968 single base substitution C T upstream_gene_variant MELA-AU 12 58000269 58000269 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 58000269 58000269 single base substitution C T upstream_gene_variant MELA-AU 12 58000359 58000359 single base substitution C T 5_prime_UTR_variant MELA-AU 12 58000359 58000359 single base substitution C T downstream_gene_variant MELA-AU 12 58000359 58000359 single base substitution C T intron_variant MELA-AU 12 58000359 58000359 single base substitution C T upstream_gene_variant MELA-AU 12 58000621 58000621 single base substitution C T 5_prime_UTR_variant MELA-AU 12 58000621 58000621 single base substitution C T downstream_gene_variant MELA-AU 12 58000621 58000621 single base substitution C T intron_variant MELA-AU 12 58000621 58000621 single base substitution C T upstream_gene_variant MELA-AU 12 58000636 58000636 single base substitution C T 5_prime_UTR_variant MELA-AU 12 58000636 58000636 single base substitution C T downstream_gene_variant MELA-AU 12 58000636 58000636 single base substitution C T intron_variant MELA-AU 12 58000636 58000636 single base substitution C T upstream_gene_variant MELA-AU 12 58000835 58000835 single base substitution C T downstream_gene_variant MELA-AU 12 58000835 58000835 single base substitution C T synonymous_variant S56S 168C>T MELA-AU 12 58000835 58000835 single base substitution C T synonymous_variant S63S 189C>T MELA-AU 12 58000835 58000835 single base substitution C T synonymous_variant S66S 198C>T MELA-AU 12 58000835 58000835 single base substitution C T upstream_gene_variant MELA-AU 12 58001391 58001391 single base substitution C T downstream_gene_variant MELA-AU 12 58001391 58001391 single base substitution C T stop_gained Q249* 745C>T MELA-AU 12 58001391 58001391 single base substitution C T stop_gained Q252* 754C>T MELA-AU 12 58001391 58001391 single base substitution C T stop_gained Q37* 109C>T MELA-AU 12 58001519 58001519 single base substitution C T downstream_gene_variant MELA-AU 12 58001519 58001519 single base substitution C T intron_variant MELA-AU 12 58001563 58001563 single base substitution C T downstream_gene_variant MELA-AU 12 58001563 58001563 single base substitution C T intron_variant MELA-AU 12 58002535 58002535 single base substitution C T downstream_gene_variant MELA-AU 12 58002535 58002535 single base substitution C T intron_variant MELA-AU 12 58002535 58002535 single base substitution C T missense_variant S116L 347C>T MELA-AU 12 58002757 58002757 single base substitution G A 3_prime_UTR_variant MELA-AU 12 58002757 58002757 single base substitution G A downstream_gene_variant MELA-AU 12 58002757 58002757 single base substitution G A intron_variant MELA-AU 12 58003084 58003084 single base substitution C T 3_prime_UTR_variant MELA-AU 12 58003084 58003084 single base substitution C T downstream_gene_variant MELA-AU 12 58003787 58003787 single base substitution A G downstream_gene_variant MELA-AU 12 58003904 58003904 single base substitution C T downstream_gene_variant MELA-AU 12 58003996 58003996 single base substitution C T downstream_gene_variant MELA-AU 12 58004040 58004040 single base substitution G A downstream_gene_variant MELA-AU 12 58004080 58004080 single base substitution C A downstream_gene_variant MELA-AU 12 58004148 58004148 single base substitution G A downstream_gene_variant MELA-AU 12 58004150 58004150 single base substitution G A downstream_gene_variant MELA-AU 12 58004188 58004188 single base substitution C T downstream_gene_variant MELA-AU 12 58004296 58004296 single base substitution G A downstream_gene_variant MELA-AU 12 58004328 58004328 single base substitution C T downstream_gene_variant MELA-AU 12 58004867 58004867 single base substitution G A downstream_gene_variant MELA-AU 12 58005005 58005005 single base substitution C T downstream_gene_variant MELA-AU 12 58005307 58005307 single base substitution C T downstream_gene_variant MELA-AU 12 58005900 58005900 single base substitution C T downstream_gene_variant MELA-AU 12 58006030 58006030 single base substitution C T downstream_gene_variant MELA-AU 12 58006263 58006263 single base substitution C T downstream_gene_variant MELA-AU 12 58006716 58006716 single base substitution C T downstream_gene_variant MELA-AU 12 58006723 58006723 single base substitution C T downstream_gene_variant MELA-AU 12 58007193 58007193 single base substitution T C downstream_gene_variant MELA-AU 12 58007216 58007216 single base substitution C T downstream_gene_variant MELA-AU 12 58007540 58007541 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 58007586 58007586 single base substitution C T downstream_gene_variant MELA-AU 12 58008251 58008251 single base substitution C T downstream_gene_variant MELA-AU 12 58008414 58008414 single base substitution G A downstream_gene_variant MELA-AU 12 58008418 58008418 single base substitution G A downstream_gene_variant MELA-AU 12 58008522 58008522 single base substitution C T downstream_gene_variant MELA-AU 12 58008532 58008532 single base substitution C T downstream_gene_variant ORCA-IN 12 58006579 58006579 single base substitution G A downstream_gene_variant ORCA-IN 12 58006981 58006981 single base substitution G C downstream_gene_variant ORCA-IN 12 58007660 58007660 single base substitution G C downstream_gene_variant ORCA-IN 12 58007889 58007889 single base substitution G C downstream_gene_variant ORCA-IN 12 58008445 58008445 single base substitution G A downstream_gene_variant PACA-AU 12 57999406 57999406 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 12 57999406 57999406 single base substitution C G intron_variant PACA-AU 12 57999406 57999406 single base substitution C G upstream_gene_variant PACA-AU 12 58003927 58003927 single base substitution C T downstream_gene_variant PACA-AU 12 58004056 58004056 deletion of <=200bp G - downstream_gene_variant PACA-AU 12 58004230 58004230 deletion of <=200bp C - downstream_gene_variant PACA-AU 12 58004547 58004547 single base substitution A G downstream_gene_variant PACA-AU 12 58004683 58004683 single base substitution A C downstream_gene_variant PACA-AU 12 58006227 58006227 single base substitution C T downstream_gene_variant PACA-AU 12 58007189 58007189 single base substitution C T downstream_gene_variant PACA-AU 12 58008202 58008202 single base substitution G T downstream_gene_variant PACA-CA 12 57994173 57994173 single base substitution G A upstream_gene_variant PACA-CA 12 57994176 57994176 single base substitution G A upstream_gene_variant PACA-CA 12 57994915 57994915 single base substitution G A upstream_gene_variant PACA-CA 12 57996083 57996083 single base substitution C G upstream_gene_variant PACA-CA 12 58001013 58001013 deletion of <=200bp C - downstream_gene_variant PACA-CA 12 58001013 58001013 deletion of <=200bp C - frameshift_variant P116 PACA-CA 12 58001013 58001013 deletion of <=200bp C - frameshift_variant P123 PACA-CA 12 58001013 58001013 deletion of <=200bp C - frameshift_variant P126 PACA-CA 12 58001013 58001013 deletion of <=200bp C - upstream_gene_variant PACA-CA 12 58001110 58001110 single base substitution A T downstream_gene_variant PACA-CA 12 58001110 58001110 single base substitution A T missense_variant E148V 443A>T PACA-CA 12 58001110 58001110 single base substitution A T missense_variant E155V 464A>T PACA-CA 12 58001110 58001110 single base substitution A T missense_variant E158V 473A>T PACA-CA 12 58001110 58001110 single base substitution A T upstream_gene_variant PACA-CA 12 58003307 58003307 single base substitution C T 3_prime_UTR_variant PACA-CA 12 58003307 58003307 single base substitution C T downstream_gene_variant PACA-CA 12 58003386 58003386 single base substitution G A 3_prime_UTR_variant PACA-CA 12 58003386 58003386 single base substitution G A downstream_gene_variant PACA-CA 12 58004404 58004404 single base substitution C T downstream_gene_variant PACA-CA 12 58004658 58004658 single base substitution C G downstream_gene_variant PACA-CA 12 58005667 58005667 single base substitution G C downstream_gene_variant PAEN-AU 12 58002791 58002791 single base substitution G A 3_prime_UTR_variant PAEN-AU 12 58002791 58002791 single base substitution G A downstream_gene_variant PAEN-AU 12 58002791 58002791 single base substitution G A intron_variant PAEN-AU 12 58003875 58003875 single base substitution T G downstream_gene_variant PBCA-DE 12 58001615 58001615 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 58001615 58001615 insertion of <=200bp - A intron_variant PBCA-DE 12 58003893 58003893 deletion of <=200bp G - downstream_gene_variant PBCA-DE 12 58004510 58004510 single base substitution C A downstream_gene_variant PBCA-DE 12 58004834 58004834 single base substitution C T downstream_gene_variant PRAD-CA 12 57997664 57997664 single base substitution G C upstream_gene_variant PRAD-CA 12 57998270 57998270 single base substitution A C upstream_gene_variant PRAD-UK 12 58000663 58000663 single base substitution C G 5_prime_UTR_variant PRAD-UK 12 58000663 58000663 single base substitution C G downstream_gene_variant PRAD-UK 12 58000663 58000663 single base substitution C G intron_variant PRAD-UK 12 58000663 58000663 single base substitution C G missense_variant S6C 17C>G PRAD-UK 12 58000663 58000663 single base substitution C G splice_region_variant PRAD-UK 12 58000663 58000663 single base substitution C G upstream_gene_variant PRAD-UK 12 58003379 58003379 single base substitution G A 3_prime_UTR_variant PRAD-UK 12 58003379 58003379 single base substitution G A downstream_gene_variant PRAD-US 12 58002362 58002362 single base substitution G A downstream_gene_variant PRAD-US 12 58002362 58002362 single base substitution G A synonymous_variant P270P 810G>A PRAD-US 12 58002362 58002362 single base substitution G A synonymous_variant P273P 819G>A PRAD-US 12 58002362 58002362 single base substitution G A synonymous_variant P58P 174G>A PRAD-US 12 58004061 58004061 single base substitution G A downstream_gene_variant READ-US 12 58002407 58002407 single base substitution G A downstream_gene_variant READ-US 12 58002407 58002407 single base substitution G A synonymous_variant A285A 855G>A READ-US 12 58002407 58002407 single base substitution G A synonymous_variant A288A 864G>A READ-US 12 58002407 58002407 single base substitution G A synonymous_variant A73A 219G>A SKCA-BR 12 57998887 57998887 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 57998887 57998887 single base substitution G A intron_variant SKCA-BR 12 57998887 57998887 single base substitution G A upstream_gene_variant SKCA-BR 12 58000378 58000378 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 58000378 58000378 single base substitution G A downstream_gene_variant SKCA-BR 12 58000378 58000378 single base substitution G A intron_variant SKCA-BR 12 58000378 58000378 single base substitution G A upstream_gene_variant SKCA-BR 12 58001068 58001068 single base substitution C T downstream_gene_variant SKCA-BR 12 58001068 58001068 single base substitution C T missense_variant P134L 401C>T SKCA-BR 12 58001068 58001068 single base substitution C T missense_variant P141L 422C>T SKCA-BR 12 58001068 58001068 single base substitution C T missense_variant P144L 431C>T SKCA-BR 12 58001068 58001068 single base substitution C T upstream_gene_variant SKCA-BR 12 58001789 58001789 single base substitution C T downstream_gene_variant SKCA-BR 12 58001789 58001789 single base substitution C T intron_variant SKCA-BR 12 58001827 58001827 single base substitution C T downstream_gene_variant SKCA-BR 12 58001827 58001827 single base substitution C T intron_variant SKCA-BR 12 58002459 58002459 single base substitution C T downstream_gene_variant SKCA-BR 12 58002459 58002459 single base substitution C T missense_variant P303S 907C>T SKCA-BR 12 58002459 58002459 single base substitution C T missense_variant P306S 916C>T SKCA-BR 12 58002459 58002459 single base substitution C T missense_variant P91S 271C>T SKCM-US 12 57994597 57994597 single base substitution C T upstream_gene_variant SKCM-US 12 58000659 58000659 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 12 58000659 58000659 single base substitution C T downstream_gene_variant SKCM-US 12 58000659 58000659 single base substitution C T intron_variant SKCM-US 12 58000659 58000659 single base substitution C T splice_region_variant SKCM-US 12 58000659 58000659 single base substitution C T synonymous_variant L5L 13C>T SKCM-US 12 58000659 58000659 single base substitution C T upstream_gene_variant SKCM-US 12 58000683 58000683 single base substitution G A downstream_gene_variant SKCM-US 12 58000683 58000683 single base substitution G A missense_variant G13S 37G>A SKCM-US 12 58000683 58000683 single base substitution G A missense_variant G16S 46G>A SKCM-US 12 58000683 58000683 single base substitution G A missense_variant G6S 16G>A SKCM-US 12 58000683 58000683 single base substitution G A upstream_gene_variant SKCM-US 12 58000757 58000757 single base substitution G A downstream_gene_variant SKCM-US 12 58000757 58000757 single base substitution G A synonymous_variant L30L 90G>A SKCM-US 12 58000757 58000757 single base substitution G A synonymous_variant L37L 111G>A SKCM-US 12 58000757 58000757 single base substitution G A synonymous_variant L40L 120G>A SKCM-US 12 58000757 58000757 single base substitution G A upstream_gene_variant SKCM-US 12 58000787 58000787 single base substitution C T downstream_gene_variant SKCM-US 12 58000787 58000787 single base substitution C T synonymous_variant S40S 120C>T SKCM-US 12 58000787 58000787 single base substitution C T synonymous_variant S47S 141C>T SKCM-US 12 58000787 58000787 single base substitution C T synonymous_variant S50S 150C>T SKCM-US 12 58000787 58000787 single base substitution C T upstream_gene_variant SKCM-US 12 58001016 58001016 single base substitution C T downstream_gene_variant SKCM-US 12 58001016 58001016 single base substitution C T missense_variant P117S 349C>T SKCM-US 12 58001016 58001016 single base substitution C T missense_variant P124S 370C>T SKCM-US 12 58001016 58001016 single base substitution C T missense_variant P127S 379C>T SKCM-US 12 58001016 58001016 single base substitution C T upstream_gene_variant SKCM-US 12 58001257 58001257 single base substitution G A downstream_gene_variant SKCM-US 12 58001257 58001257 single base substitution G A missense_variant R204H 611G>A SKCM-US 12 58001257 58001257 single base substitution G A missense_variant R207H 620G>A SKCM-US 12 58001257 58001257 single base substitution G A upstream_gene_variant SKCM-US 12 58001367 58001367 single base substitution C T downstream_gene_variant SKCM-US 12 58001367 58001367 single base substitution C T stop_gained Q241* 721C>T SKCM-US 12 58001367 58001367 single base substitution C T stop_gained Q244* 730C>T SKCM-US 12 58001367 58001367 single base substitution C T stop_gained Q29* 85C>T SKCM-US 12 58002312 58002312 single base substitution C T downstream_gene_variant SKCM-US 12 58002312 58002312 single base substitution C T missense_variant P254S 760C>T SKCM-US 12 58002312 58002312 single base substitution C T missense_variant P257S 769C>T SKCM-US 12 58002312 58002312 single base substitution C T missense_variant P42S 124C>T SKCM-US 12 58006880 58006880 single base substitution C T downstream_gene_variant SKCM-US 12 58007140 58007140 single base substitution C T downstream_gene_variant SKCM-US 12 58007258 58007258 single base substitution G A downstream_gene_variant STAD-US 12 57994595 57994595 single base substitution T C upstream_gene_variant STAD-US 12 57994645 57994645 single base substitution G A upstream_gene_variant STAD-US 12 58000970 58000970 deletion of <=200bp G - downstream_gene_variant STAD-US 12 58000970 58000970 deletion of <=200bp G - frameshift_variant L101 STAD-US 12 58000970 58000970 deletion of <=200bp G - frameshift_variant L108 STAD-US 12 58000970 58000970 deletion of <=200bp G - frameshift_variant L111 STAD-US 12 58000970 58000970 deletion of <=200bp G - upstream_gene_variant STAD-US 12 58001060 58001060 deletion of <=200bp C - downstream_gene_variant STAD-US 12 58001060 58001060 deletion of <=200bp C - frameshift_variant L131 STAD-US 12 58001060 58001060 deletion of <=200bp C - frameshift_variant L138 STAD-US 12 58001060 58001060 deletion of <=200bp C - frameshift_variant L141 STAD-US 12 58001060 58001060 deletion of <=200bp C - upstream_gene_variant STAD-US 12 58001201 58001201 single base substitution C T downstream_gene_variant STAD-US 12 58001201 58001201 single base substitution C T synonymous_variant C178C 534C>T STAD-US 12 58001201 58001201 single base substitution C T synonymous_variant C185C 555C>T STAD-US 12 58001201 58001201 single base substitution C T synonymous_variant C188C 564C>T STAD-US 12 58001201 58001201 single base substitution C T upstream_gene_variant STAD-US 12 58005727 58005727 single base substitution G A downstream_gene_variant STAD-US 12 58006728 58006728 single base substitution C T downstream_gene_variant STAD-US 12 58006732 58006732 single base substitution C A downstream_gene_variant STAD-US 12 58007272 58007274 deletion of <=200bp AGA - downstream_gene_variant STAD-US 12 58008142 58008142 single base substitution C T downstream_gene_variant UCEC-US 12 57994113 57994113 single base substitution G T upstream_gene_variant UCEC-US 12 58000666 58000666 single base substitution G T 5_prime_UTR_variant UCEC-US 12 58000666 58000666 single base substitution G T downstream_gene_variant UCEC-US 12 58000666 58000666 single base substitution G T missense_variant R7I 20G>T UCEC-US 12 58000666 58000666 single base substitution G T splice_acceptor_variant UCEC-US 12 58000666 58000666 single base substitution G T upstream_gene_variant UCEC-US 12 58000810 58000810 single base substitution C A downstream_gene_variant UCEC-US 12 58000810 58000810 single base substitution C A missense_variant S48Y 143C>A UCEC-US 12 58000810 58000810 single base substitution C A missense_variant S55Y 164C>A UCEC-US 12 58000810 58000810 single base substitution C A missense_variant S58Y 173C>A UCEC-US 12 58000810 58000810 single base substitution C A upstream_gene_variant UCEC-US 12 58001180 58001180 single base substitution G T downstream_gene_variant UCEC-US 12 58001180 58001180 single base substitution G T missense_variant E171D 513G>T UCEC-US 12 58001180 58001180 single base substitution G T missense_variant E178D 534G>T UCEC-US 12 58001180 58001180 single base substitution G T missense_variant E181D 543G>T UCEC-US 12 58001180 58001180 single base substitution G T upstream_gene_variant UCEC-US 12 58002327 58002327 single base substitution C T downstream_gene_variant UCEC-US 12 58002327 58002327 single base substitution C T missense_variant R259W 775C>T UCEC-US 12 58002327 58002327 single base substitution C T missense_variant R262W 784C>T UCEC-US 12 58002327 58002327 single base substitution C T missense_variant R47W 139C>T UCEC-US 12 58002333 58002333 single base substitution C A downstream_gene_variant UCEC-US 12 58002333 58002333 single base substitution C A missense_variant P261T 781C>A UCEC-US 12 58002333 58002333 single base substitution C A missense_variant P264T 790C>A UCEC-US 12 58002333 58002333 single base substitution C A missense_variant P49T 145C>A UCEC-US 12 58006763 58006763 single base substitution T C downstream_gene_variant UCEC-US 12 58006769 58006769 single base substitution C A downstream_gene_variant UCEC-US 12 58007489 58007489 single base substitution T C downstream_gene_variant UCEC-US 12 58007836 58007836 single base substitution A G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-1317T COSM5448535 c.134G>A p.R45H Substitution - Missense 12:57606997-57606997 + TCGA-EE-A29S-06 COSM3463863 c.13C>T p.L5L Substitution - coding silent 12:57606876-57606876 + TCGA-02-0107-01 COSM35489 c.902G>A p.G301E Substitution - Missense 12:57608671-57608671 + 5853_PT COSM5753983 c.376C>T p.R126* Substitution - Nonsense 12:57607239-57607239 + CHC892T COSM4960918 c.28G>A p.A10T Substitution - Missense 12:57606891-57606891 + T3091 COSM4679619 c.605G>A p.C202Y Substitution - Missense 12:57607468-57607468 + TCGA-BH-A18G-01 COSM3812694 c.208G>A p.A70T Substitution - Missense 12:57607071-57607071 + TCGA-EB-A3Y7-01 COSM3463866 c.611G>A p.R204H Substitution - Missense 12:57607474-57607474 + 2492725 COSM5724981 c.205C>T p.P69S Substitution - Missense 12:57607068-57607068 + TCGA-EE-A29M-06 COSM3463867 c.721C>T p.Q241* Substitution - Nonsense 12:57607584-57607584 + PCSI_0102_Pa_P COSM216281 c.464A>T p.E155V Substitution - Missense 12:57607327-57607327 + C086 COSM5530246 c.127G>A p.E43K Substitution - Missense 12:57606990-57606990 + 99815 COSM95833 c.72C>T p.P24P Substitution - coding silent 12:57606935-57606935 + TCGA-BS-A0UF-01 COSM942138 c.534G>T p.E178D Substitution - Missense 12:57607397-57607397 + T263 COSM4679621 c.879T>C p.T293T Substitution - coding silent 12:57608648-57608648 + PCSI_0102_Pa_P_526 COSM216281 c.464A>T p.E155V Substitution - Missense 12:57607327-57607327 + NB1488 COSM5703034 c.750+1G>C p.? Unknown 12:57607614-57607614 + 587342 COSM1204682 c.793C>T p.R265W Substitution - Missense 12:57608562-57608562 + 255 COSM3732216 c.29C>T p.A10V Substitution - Missense 12:57606892-57606892 + CHC892T COSM4797332 c.824G>A p.G275D Substitution - Missense 12:57608593-57608593 + J87_T COSM3955014 c.970T>G p.F324V Substitution - Missense 12:57609078-57609078 + TCGA-BR-8382-01 COSM4043906 c.555C>T p.C185C Substitution - coding silent 12:57607418-57607418 + pfg017T COSM1639194 c.156C>A p.G52G Substitution - coding silent 12:57607019-57607019 + CHC892T COSM4960756 c.643C>T p.Q215* Substitution - Nonsense 12:57607506-57607506 + RK128_C01 COSM3739809 c.133C>T p.R45C Substitution - Missense 12:57606996-57606996 + CSCC-20-T COSM1989458 c.417C>T p.P139P Substitution - coding silent 12:57607280-57607280 + TCGA-DD-A3A4-01 COSM4929002 c.544C>T p.H182Y Substitution - Missense 12:57607407-57607407 + TCGA-BS-A0UF-01 COSM942136 c.20G>T p.R7I Substitution - Missense 12:57606883-57606883 + LUAD-CHTN-MAD06-00668 COSM358718 c.262G>C p.E88Q Substitution - Missense 12:57607125-57607125 + Au3 COSM5601391 c.495C>T p.P165P Substitution - coding silent 12:57607358-57607358 + TCGA-DD-A4NH-01 COSM4940930 c.652C>T p.R218W Substitution - Missense 12:57607515-57607515 + C086 COSM5530248 c.126G>A p.E42E Substitution - coding silent 12:57606989-57606989 + TCGA-EE-A2GO-06 COSM3463865 c.370C>T p.P124S Substitution - Missense 12:57607233-57607233 + TCGA-EE-A3JB-06 COSM4898586 c.141C>T p.S47S Substitution - coding silent 12:57607004-57607004 + 9210_T COSM5039859 c.155G>A p.G52D Substitution - Missense 12:57607018-57607018 + TCGA-AX-A05Z-01 COSM942137 c.164C>A p.S55Y Substitution - Missense 12:57607027-57607027 + BD246T COSM5496222 c.101C>A p.P34Q Substitution - Missense 12:57606964-57606964 + T578 COSM4679620 c.699G>T p.E233D Substitution - Missense 12:57607562-57607562 + PD9000a COSM5775664 c.151G>A p.D51N Substitution - Missense 12:57607014-57607014 + 53M COSM942136 c.20G>T p.R7I Substitution - Missense 12:57606883-57606883 + TCGA-E2-A1IN-01 COSM1476788 c.820G>A p.E274K Substitution - Missense 12:57608589-57608589 + TCGA-AG-A002-01 COSM260609 c.157G>A p.E53K Substitution - Missense 12:57607020-57607020 + HCC2998 COSM1989464 c.615C>A p.F205L Substitution - Missense 12:57607478-57607478 + sysucc-1171T COSM5452698 c.357C>T p.R119R Substitution - coding silent 12:57607220-57607220 + TCGA-BT-A0YX-01 COSM416128 c.483G>C p.E161D Substitution - Missense 12:57607346-57607346 + TCGA-AN-A046-01 COSM3812693 c.121C>T p.R41W Substitution - Missense 12:57606984-57606984 + BD40T COSM5509200 c.249G>A p.K83K Substitution - coding silent 12:57607112-57607112 + STC291 COSM5051826 c.727G>A p.V243I Substitution - Missense 12:57607590-57607590 + CSCC-30-T COSM4491172 c.375C>T p.L125L Substitution - coding silent 12:57607238-57607238 + TCGA-AG-3726-01 COSM5067019 c.969G>T p.L323L Substitution - coding silent 12:57609077-57609077 + 2492724 COSM5724981 c.205C>T p.P69S Substitution - Missense 12:57607068-57607068 + TCGA-AY-6196-01 COSM1363373 c.451C>T p.P151S Substitution - Missense 12:57607314-57607314 + TCGA-AP-A051-01 COSM942140 c.781C>A p.P261T Substitution - Missense 12:57608550-57608550 + TCGA-EB-A3XB-01 COSM3463868 c.760C>T p.P254S Substitution - Missense 12:57608529-57608529 + SC_9008 COSM5564246 c.355C>T p.R119C Substitution - Missense 12:57607218-57607218 + TCGA-66-2754-01 COSM694940 c.95A>T p.E32V Substitution - Missense 12:57606958-57606958 + TCGA-FC-7708-01 COSM1470644 c.810G>A p.P270P Substitution - coding silent 12:57608579-57608579 + TCGA-AA-3510-01 COSM1363374 c.705C>T p.Y235Y Substitution - coding silent 12:57607568-57607568 + 3101B7_032_T COSM5041034 c.119T>C p.L40P Substitution - Missense 12:57606982-57606982 + TCGA-FW-A3R5-06 COSM3872178 c.111G>A p.L37L Substitution - coding silent 12:57606974-57606974 + HCC4T COSM1606443 c.427delC p.L145fs*51 Deletion - Frameshift 12:57607290-57607290 + ESCC_158 COSM5646628 c.788C>A p.T263N Substitution - Missense 12:57608557-57608557 + TCGA-CC-A7II-01 COSM4937714 c.1022C>T p.A341V Substitution - Missense 12:57609130-57609130 + RK084_C01 COSM1628749 c.738C>T p.P246P Substitution - coding silent 12:57607601-57607601 + CH-LA5 COSM1989462 c.525G>A p.K175K Substitution - coding silent 12:57607388-57607388 + RMS2111 COSM5585068 c.460C>T p.R154W Substitution - Missense 12:57607323-57607323 + TCGA-A3-3365-01 COSM1493005 c.1043G>A p.*348* Substitution - coding silent 12:57609151-57609151 + EGC3 COSM1628749 c.738C>T p.P246P Substitution - coding silent 12:57607601-57607601 + ccRCC-26 COSM1661597 c.571C>T p.R191W Substitution - Missense 12:57607434-57607434 + Au1 COSM5596631 c.18C>T p.S6S Substitution - coding silent 12:57606881-57606881 + 97 COSM5015133 c.203C>T p.P68L Substitution - Missense 12:57607066-57607066 + CHC892T COSM4960756 c.643C>T p.Q215* Substitution - Nonsense 12:57607506-57607506 + QC2-34-T2 COSM5654911 c.275A>C p.E92A Substitution - Missense 12:57607138-57607138 + CSCC-27-T COSM4501906 c.5C>T p.S2L Substitution - Missense 12:57606868-57606868 + 40M COSM5585068 c.460C>T p.R154W Substitution - Missense 12:57607323-57607323 + T368 COSM4679618 c.324delG p.G110fs*86 Deletion - Frameshift 12:57607187-57607187 + TCGA-EE-A29R-06 COSM3463864 c.37G>A p.G13S Substitution - Missense 12:57606900-57606900 + sysucc-311T COSM5478330 c.262G>T p.E88* Substitution - Nonsense 12:57607125-57607125 + TCGA-DS-A0VM-01 COSM459415 c.870C>T p.L290L Substitution - coding silent 12:57608639-57608639 + CSCC-27-T COSM4517804 c.427_428CC>TT p.P143F Substitution - Missense 12:57607290-57607291 + TCGA-AG-3592-01 COSM3417032 c.855G>A p.A285A Substitution - coding silent 12:57608624-57608624 + STC252 COSM5051825 c.36A>G p.G12G Substitution - coding silent 12:57606899-57606899 + CHC892T COSM4960918 c.28G>A p.A10T Substitution - Missense 12:57606891-57606891 + 2492726 COSM5724981 c.205C>T p.P69S Substitution - Missense 12:57607068-57607068 + Pat_41_B COSM5841624 c.958G>A p.G320R Substitution - Missense 12:57608727-57608727 + 3101B7_041_T COSM5042548 c.386C>T p.P129L Substitution - Missense 12:57607249-57607249 + KPOPBR-07-T COSM3417032 c.855G>A p.A285A Substitution - coding silent 12:57608624-57608624 + CHC892T COSM4797332 c.824G>A p.G275D Substitution - Missense 12:57608593-57608593 + TCGA-AP-A056-01 COSM942139 c.775C>T p.R259W Substitution - Missense 12:57608544-57608544 + D01 COSM5543852 c.594C>T p.A198A Substitution - coding silent 12:57607457-57607457 + TCGA-24-1847-01 COSM1323130 c.339G>A p.E113E Substitution - coding silent 12:57607202-57607202 + TCGA-UB-A7MB-01 COSM4932437 c.374T>A p.L125H Substitution - Missense 12:57607237-57607237 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.32333;Hs.32374 12q13.3 613142

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.E155V c.464A>T 12 58001110 PAAD A T Missense p.E32V c.95A>T 12 58000741 LUSC C A Nonsense p.S183* c.548C>A 12 58001194 LUAD C A Synonymous p.G52G c.156C>A 12 58000802 STAD CC TT Missense p.P140S c.417_418delinsTT 12 58001063 CM C - Frameshift p.P133Qfs*63 c.398delC 12 58001040 LUSC C T 3-UTRSNV . c.1041+75C>T 12 58003007 CM C T IntronicSNV . c.1+29C>T 12 58000330 CM C T IntronicSNV . c.968+20C>T 12 58002540 CM C T IntronicSNV . c.968+39C>T 12 58002559 CM C T Missense p.P115L c.344C>T 12 58000990 CM C T Missense p.P124S c.370C>T 12 58001016 CM C T Missense p.P200L c.599C>T 12 58001245 CM C T Missense p.P34L c.101C>T 12 58000747 LUAD C T Nonsense p.Q241* c.721C>T 12 58001367 CM C T Synonymous p.C185C c.555C>T 12 58001201 CM C T Synonymous p.L5L c.13C>T 12 58000659 CM C T Synonymous p.P143P c.429C>T 12 58001075 CM C T Synonymous p.S47S c.141C>T 12 58000787 CM G A IntronicSNV . c.1+72G>A 12 58000373 CM G A Missense p.E274K c.820G>A 12 58002372 BRCA G A Missense p.E88K c.262G>A 12 58000908 STAD G A Missense p.G13S c.37G>A 12 58000683 CM G A Missense p.V25M c.73G>A 12 58000719 HNSC G A Synonymous p.P270P c.810G>A 12 58002362 PRAD G C Missense p.E161D c.483G>C 12 58001129 BLCA G T Missense p.R154L c.461G>T 12 58001107 HNSC G T Missense p.R36L c.107G>T 12 58000753 LUAD G T Missense p.R41L c.122G>T 12 58000768 LUAD