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 112082137 112082137 + Silent SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr12:112082137G>A c.1555C>T c.(1555-1557)Ctg>Ttg p.L519L BLCA 12 112082174 112082174 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr12:112082174G>A c.1518C>T c.(1516-1518)gtC>gtT p.V506V BLCA 12 112082201 112082201 + Silent SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr12:112082201G>A c.1491C>T c.(1489-1491)acC>acT p.T497T BLCA 12 112082359 112082359 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr12:112082359G>A c.1333C>T c.(1333-1335)Cag>Tag p.Q445* BLCA 12 112087755 112087755 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr12:112087755G>A c.1313C>T c.(1312-1314)tCt>tTt p.S438F BLCA 12 112096587 112096587 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr12:112096587C>T c.1084G>A c.(1084-1086)Gag>Aag p.E362K BLCA 12 112097055 112097055 + Missense_Mutation SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr12:112097055T>C c.977A>G c.(976-978)tAt>tGt p.Y326C BLCA 12 112097074 112097074 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr12:112097074C>T c.958G>A c.(958-960)Gag>Aag p.E320K BLCA 12 112110571 112110571 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr12:112110571G>A c.551C>T c.(550-552)gCg>gTg p.A184V BLCA 12 112123571 112123571 + 5'Flank SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr12:112123571C>G BRCA 12 112096541 112096541 + Splice_Site SNP T T G TCGA-B6-A2IU-01A-32D-A19T-09 TCGA-B6-A2IU-10A-01D-A18P-09 g.chr12:112096541T>G c.1130A>C c.(1129-1131)gAg>gCg p.E377A BRCA 12 112096634 112096634 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:112096634C>T c.1037G>A c.(1036-1038)cGa>cAa p.R346Q BRCA 12 112103450 112103450 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 g.chr12:112103450C>T c.799G>A c.(799-801)Gat>Aat p.D267N BRCA 12 112117032 112117032 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:112117032C>T c.466G>A c.(466-468)Gaa>Aaa p.E156K BRCA 12 112117118 112117118 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr12:112117118A>T c.380T>A c.(379-381)gTg>gAg p.V127E BRCA 12 112121094 112121094 + 5'Flank SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 g.chr12:112121094C>T BRCA 12 112121100 112121100 + 5'Flank SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr12:112121100A>C CESC 12 112103478 112103478 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:112103478G>T c.771C>A c.(769-771)ttC>ttA p.F257L CESC 12 112103588 112103588 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:112103588C>T c.661G>A c.(661-663)Gcc>Acc p.A221T CESC 12 112119469 112119469 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr12:112119469G>C c.325C>G c.(325-327)Cat>Gat p.H109D CESC 12 112119640 112119640 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:112119640C>G c.e3-1 COAD 12 112087828 112087828 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:112087828T>G c.1240A>C c.(1240-1242)Aag>Cag p.K414Q COAD 12 112093423 112093423 + Nonsense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:112093423G>A c.1168C>T c.(1168-1170)Cga>Tga p.R390* COAD 12 112119571 112119571 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:112119571C>A c.223G>T c.(223-225)Gat>Tat p.D75Y COAD 12 112121077 112121077 + 5'Flank SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112121077C>T COADREAD 12 112087828 112087828 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:112087828T>G c.1240A>C c.(1240-1242)Aag>Cag p.K414Q COADREAD 12 112093396 112093396 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112093396G>A c.1195C>T c.(1195-1197)Cgg>Tgg p.R399W COADREAD 12 112093423 112093423 + Nonsense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:112093423G>A c.1168C>T c.(1168-1170)Cga>Tga p.R390* COADREAD 12 112119571 112119571 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:112119571C>A c.223G>T c.(223-225)Gat>Tat p.D75Y COADREAD 12 112121077 112121077 + 5'Flank SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112121077C>T DLBC 12 112082105 112082105 + Silent SNP C C T TCGA-FA-A6HN-01A-11D-A31X-10 TCGA-FA-A6HN-10A-01D-A31X-10 g.chr12:112082105C>T c.1587G>A c.(1585-1587)gaG>gaA p.E529E DLBC 12 112103531 112103531 + Missense_Mutation SNP G G A TCGA-FF-A7CW-01A-11D-A382-10 TCGA-FF-A7CW-10A-01D-A385-10 g.chr12:112103531G>A c.718C>T c.(718-720)Cgc>Tgc p.R240C ESCA 12 112093423 112093423 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr12:112093423G>T c.1168C>A c.(1168-1170)Cga>Aga p.R390R ESCA 12 112119530 112119530 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 g.chr12:112119530C>T c.264G>A c.(262-264)ccG>ccA p.P88P ESCA 12 112120998 112120998 + 5'Flank SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr12:112120998G>T ESCA 12 112123540 112123540 + 5'Flank SNP G G A TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr12:112123540G>A GBMLGG 12 112110475 112110475 + Missense_Mutation SNP T T C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 g.chr12:112110475T>C c.647A>G c.(646-648)aAa>aGa p.K216R HNSC 12 112082288 112082288 + Silent SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 g.chr12:112082288T>C c.1404A>G c.(1402-1404)cgA>cgG p.R468R HNSC 12 112097072 112097072 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr12:112097072C>T c.960G>A c.(958-960)gaG>gaA p.E320E HNSC 12 112097135 112097135 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:112097135A>G c.897T>C c.(895-897)tgT>tgC p.C299C HNSC 12 112098426 112098426 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 g.chr12:112098426C>T c.860G>A c.(859-861)tGt>tAt p.C287Y HNSC 12 112110555 112110555 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr12:112110555C>T c.567G>A c.(565-567)atG>atA p.M189I HNSC 12 112110580 112110580 + Splice_Site SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr12:112110580T>C c.e5-2 KICH 12 112082340 112082340 + Missense_Mutation SNP G G A TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr12:112082340G>A c.1352C>T c.(1351-1353)gCc>gTc p.A451V KIPAN 12 112082340 112082340 + Missense_Mutation SNP G G A TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr12:112082340G>A c.1352C>T c.(1351-1353)gCc>gTc p.A451V KIPAN 12 112096635 112096635 + Nonsense_Mutation SNP G G A TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chr12:112096635G>A c.1036C>T c.(1036-1038)Cga>Tga p.R346* KIRP 12 112096635 112096635 + Nonsense_Mutation SNP G G A TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chr12:112096635G>A c.1036C>T c.(1036-1038)Cga>Tga p.R346* LGG 12 112110475 112110475 + Missense_Mutation SNP T T C TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 g.chr12:112110475T>C c.647A>G c.(646-648)aAa>aGa p.K216R LIHC 12 112082089 112082089 + Missense_Mutation SNP C C T TCGA-5C-AAPD-01A-21D-A38X-10 TCGA-5C-AAPD-10A-01D-A38X-10 g.chr12:112082089C>T c.1603G>A c.(1603-1605)Gcc>Acc p.A535T LIHC 12 112082345 112082345 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:112082345delT c.1347delA c.(1345-1347)aaafs p.K449fs LIHC 12 112093435 112093435 + Missense_Mutation SNP G G C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr12:112093435G>C c.1156C>G c.(1156-1158)Ctg>Gtg p.L386V LIHC 12 112093435 112093435 + Missense_Mutation SNP G G C TCGA-G3-A25Z-01A-11D-A16V-10 TCGA-G3-A25Z-10A-01D-A16V-10 g.chr12:112093435G>C c.1156C>G c.(1156-1158)Ctg>Gtg p.L386V LIHC 12 112098444 112098444 + Missense_Mutation SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:112098444G>A c.842C>T c.(841-843)cCa>cTa p.P281L LIHC 12 112119568 112119568 + Missense_Mutation SNP G G A TCGA-2Y-A9H7-01A-11D-A38X-10 TCGA-2Y-A9H7-10A-01D-A38X-10 g.chr12:112119568G>A c.226C>T c.(226-228)Cac>Tac p.H76Y LUAD 12 112082051 112082052 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr12:112082051_112082052insC c.1640_1641insG c.(1639-1641)ggcfs p.G547fs LUAD 12 112093415 112093415 + Silent SNP G G A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr12:112093415G>A c.1176C>T c.(1174-1176)taC>taT p.Y392Y LUAD 12 112103546 112103546 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr12:112103546T>C c.703A>G c.(703-705)Acg>Gcg p.T235A LUAD 12 112121073 112121073 + 5'Flank SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr12:112121073G>C LUSC 12 112082156 112082156 + Silent SNP T T A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr12:112082156T>A c.1536A>T c.(1534-1536)acA>acT p.T512T LUSC 12 112087808 112087808 + Missense_Mutation SNP C C G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 g.chr12:112087808C>G c.1260G>C c.(1258-1260)gaG>gaC p.E420D PAAD 12 112103575 112103575 + Missense_Mutation SNP A A T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr12:112103575A>T c.674T>A c.(673-675)gTg>gAg p.V225E READ 12 112093396 112093396 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112093396G>A c.1195C>T c.(1195-1197)Cgg>Tgg p.R399W SARC 12 112110525 112110525 + Silent SNP T T A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 g.chr12:112110525T>A c.597A>T c.(595-597)atA>atT p.I199I SKCM 12 112082051 112082052 + Frame_Shift_Ins INS - - C TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:112082051_112082052insC c.1640_1641insG c.(1639-1641)ggcfs p.G547fs SKCM 12 112093432 112093432 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:112093432C>T c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K SKCM 12 112116993 112116993 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr12:112116993G>A c.505C>T c.(505-507)Ccc>Tcc p.P169S SKCM 12 112119504 112119504 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:112119504G>A c.290C>T c.(289-291)tCa>tTa p.S97L SKCM 12 112121036 112121036 + 5'Flank SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:112121036G>A SKCM 12 112121037 112121037 + 5'Flank SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:112121037G>A

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 112087755 112087755 single base substitution G A exon_variant BLCA-US 12 112087755 112087755 single base substitution G A missense_variant S289F 866C>T BLCA-US 12 112087755 112087755 single base substitution G A missense_variant S438F 1313C>T BLCA-US 12 112087755 112087755 single base substitution G A missense_variant S468F 1403C>T BLCA-US 12 112096587 112096587 single base substitution C T exon_variant BLCA-US 12 112096587 112096587 single base substitution C T missense_variant E213K 637G>A BLCA-US 12 112096587 112096587 single base substitution C T missense_variant E362K 1084G>A BLCA-US 12 112096587 112096587 single base substitution C T missense_variant E392K 1174G>A BLCA-US 12 112097074 112097074 single base substitution C T exon_variant BLCA-US 12 112097074 112097074 single base substitution C T missense_variant E171K 511G>A BLCA-US 12 112097074 112097074 single base substitution C T missense_variant E320K 958G>A BLCA-US 12 112097074 112097074 single base substitution C T missense_variant E350K 1048G>A BLCA-US 12 112123571 112123571 single base substitution C G missense_variant R9P 26G>C BLCA-US 12 112123571 112123571 single base substitution C G upstream_gene_variant BRCA-EU 12 112076089 112076089 single base substitution G A downstream_gene_variant BRCA-EU 12 112076261 112076261 single base substitution C T downstream_gene_variant BRCA-EU 12 112077280 112077283 deletion of <=200bp AAAG - downstream_gene_variant BRCA-EU 12 112077331 112077331 single base substitution A C downstream_gene_variant BRCA-EU 12 112077333 112077333 single base substitution G C downstream_gene_variant BRCA-EU 12 112078624 112078624 single base substitution G A downstream_gene_variant BRCA-EU 12 112078975 112078975 single base substitution G C downstream_gene_variant BRCA-EU 12 112079649 112079656 deletion of <=200bp AGCTCTGC - downstream_gene_variant BRCA-EU 12 112079727 112079727 single base substitution C T downstream_gene_variant BRCA-EU 12 112080356 112080356 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 112080356 112080356 single base substitution A G downstream_gene_variant BRCA-EU 12 112081311 112081311 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 112081311 112081311 single base substitution A G downstream_gene_variant BRCA-EU 12 112081847 112081847 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 112081847 112081847 single base substitution C G downstream_gene_variant BRCA-EU 12 112082884 112082884 single base substitution A T intron_variant BRCA-EU 12 112084317 112084317 single base substitution G A intron_variant BRCA-EU 12 112085211 112085211 single base substitution A G intron_variant BRCA-EU 12 112086826 112086826 deletion of <=200bp A - intron_variant BRCA-EU 12 112089094 112089094 single base substitution G A intron_variant BRCA-EU 12 112090524 112090524 deletion of <=200bp T - intron_variant BRCA-EU 12 112091264 112091264 single base substitution C T intron_variant BRCA-EU 12 112091823 112091823 single base substitution G A intron_variant BRCA-EU 12 112091954 112091954 single base substitution G A intron_variant BRCA-EU 12 112092488 112092488 single base substitution G T intron_variant BRCA-EU 12 112092856 112092856 single base substitution G A intron_variant BRCA-EU 12 112093606 112093606 single base substitution A G intron_variant BRCA-EU 12 112094718 112094718 single base substitution T A intron_variant BRCA-EU 12 112094783 112094783 single base substitution C T intron_variant BRCA-EU 12 112094897 112094897 single base substitution G T intron_variant BRCA-EU 12 112097648 112097648 single base substitution C T intron_variant BRCA-EU 12 112098216 112098216 single base substitution G T intron_variant BRCA-EU 12 112099520 112099520 single base substitution T G intron_variant BRCA-EU 12 112099911 112099911 single base substitution G A intron_variant BRCA-EU 12 112100303 112100303 single base substitution G C intron_variant BRCA-EU 12 112100854 112100854 single base substitution C T intron_variant BRCA-EU 12 112101260 112101260 single base substitution A T intron_variant BRCA-EU 12 112101362 112101362 single base substitution C T intron_variant BRCA-EU 12 112102796 112102796 single base substitution G A intron_variant BRCA-EU 12 112104728 112104728 deletion of <=200bp T - intron_variant BRCA-EU 12 112105665 112105665 single base substitution G C intron_variant BRCA-EU 12 112105738 112105738 single base substitution C T intron_variant BRCA-EU 12 112106933 112106933 single base substitution T C intron_variant BRCA-EU 12 112107826 112107826 single base substitution T A intron_variant BRCA-EU 12 112109574 112109574 single base substitution G A intron_variant BRCA-EU 12 112110135 112110135 deletion of <=200bp T - intron_variant BRCA-EU 12 112110541 112110541 single base substitution C T exon_variant BRCA-EU 12 112110541 112110541 single base substitution C T intron_variant BRCA-EU 12 112110541 112110541 single base substitution C T missense_variant R194H 581G>A BRCA-EU 12 112110541 112110541 single base substitution C T missense_variant R224H 671G>A BRCA-EU 12 112112499 112112499 single base substitution A G intron_variant BRCA-EU 12 112112499 112112499 single base substitution A G upstream_gene_variant BRCA-EU 12 112113019 112113019 single base substitution C A intron_variant BRCA-EU 12 112113019 112113019 single base substitution C A upstream_gene_variant BRCA-EU 12 112113834 112113834 deletion of <=200bp T - intron_variant BRCA-EU 12 112113834 112113834 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 112113834 112113834 insertion of <=200bp - T intron_variant BRCA-EU 12 112113834 112113834 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 112115442 112115442 single base substitution C G intron_variant BRCA-EU 12 112115442 112115442 single base substitution C G upstream_gene_variant BRCA-EU 12 112118944 112118944 single base substitution C T intron_variant BRCA-EU 12 112119637 112119637 single base substitution C A stop_gained E53* 157G>T BRCA-EU 12 112119637 112119637 single base substitution C A stop_gained E83* 247G>T BRCA-EU 12 112119637 112119637 single base substitution C A upstream_gene_variant BRCA-EU 12 112120214 112120214 single base substitution G C intron_variant BRCA-EU 12 112120214 112120214 single base substitution G C upstream_gene_variant BRCA-EU 12 112121066 112121066 single base substitution G A missense_variant S13L 38C>T BRCA-EU 12 112121066 112121066 single base substitution G A missense_variant S43L 128C>T BRCA-EU 12 112121066 112121066 single base substitution G A upstream_gene_variant BRCA-EU 12 112121140 112121140 single base substitution G A intron_variant BRCA-EU 12 112121140 112121140 single base substitution G A upstream_gene_variant BRCA-EU 12 112121221 112121221 single base substitution G A intron_variant BRCA-EU 12 112121221 112121221 single base substitution G A upstream_gene_variant BRCA-EU 12 112121375 112121375 single base substitution C T intron_variant BRCA-EU 12 112121375 112121375 single base substitution C T upstream_gene_variant BRCA-EU 12 112121835 112121835 single base substitution C T intron_variant BRCA-EU 12 112121835 112121835 single base substitution C T upstream_gene_variant BRCA-EU 12 112122045 112122045 single base substitution C A intron_variant BRCA-EU 12 112122045 112122045 single base substitution C A upstream_gene_variant BRCA-EU 12 112122124 112122124 single base substitution C T intron_variant BRCA-EU 12 112122124 112122124 single base substitution C T upstream_gene_variant BRCA-EU 12 112122165 112122165 single base substitution C T intron_variant BRCA-EU 12 112122165 112122165 single base substitution C T upstream_gene_variant BRCA-EU 12 112122349 112122350 deletion of <=200bp AC - intron_variant BRCA-EU 12 112122349 112122350 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 12 112122539 112122539 single base substitution C G intron_variant BRCA-EU 12 112122539 112122539 single base substitution C G upstream_gene_variant BRCA-EU 12 112122589 112122589 single base substitution C T intron_variant BRCA-EU 12 112122589 112122589 single base substitution C T upstream_gene_variant BRCA-EU 12 112122596 112122596 single base substitution C T intron_variant BRCA-EU 12 112122596 112122596 single base substitution C T upstream_gene_variant BRCA-EU 12 112122781 112122781 single base substitution C T intron_variant BRCA-EU 12 112122781 112122781 single base substitution C T upstream_gene_variant BRCA-EU 12 112123316 112123316 single base substitution C T intron_variant BRCA-EU 12 112123316 112123316 single base substitution C T upstream_gene_variant BRCA-EU 12 112123357 112123357 single base substitution C G intron_variant BRCA-EU 12 112123357 112123357 single base substitution C G upstream_gene_variant BRCA-EU 12 112123727 112123727 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 112123727 112123727 single base substitution C T upstream_gene_variant BRCA-EU 12 112125845 112125845 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 112126400 112126400 single base substitution G A upstream_gene_variant BRCA-EU 12 112127676 112127676 single base substitution C T upstream_gene_variant BRCA-EU 12 112127779 112127779 single base substitution A G upstream_gene_variant BRCA-EU 12 112128726 112128726 single base substitution C T upstream_gene_variant BRCA-FR 12 112077295 112077295 single base substitution G C downstream_gene_variant BRCA-FR 12 112077333 112077333 single base substitution G C downstream_gene_variant BRCA-FR 12 112078975 112078975 single base substitution G C downstream_gene_variant BRCA-FR 12 112100303 112100303 single base substitution G C intron_variant BRCA-FR 12 112102796 112102796 single base substitution G A intron_variant BRCA-FR 12 112104968 112104968 single base substitution A T intron_variant BRCA-FR 12 112119129 112119129 single base substitution G A intron_variant BRCA-FR 12 112122124 112122124 single base substitution C T intron_variant BRCA-FR 12 112122124 112122124 single base substitution C T upstream_gene_variant BRCA-FR 12 112123357 112123357 single base substitution C G intron_variant BRCA-FR 12 112123357 112123357 single base substitution C G upstream_gene_variant BRCA-FR 12 112123727 112123727 single base substitution C T 5_prime_UTR_variant BRCA-FR 12 112123727 112123727 single base substitution C T upstream_gene_variant BRCA-UK 12 112081847 112081847 single base substitution C G 3_prime_UTR_variant BRCA-UK 12 112081847 112081847 single base substitution C G downstream_gene_variant BRCA-UK 12 112094572 112094572 single base substitution C A intron_variant BRCA-UK 12 112094783 112094783 single base substitution C T intron_variant BRCA-UK 12 112112131 112112131 single base substitution C G intron_variant BRCA-UK 12 112112131 112112131 single base substitution C G upstream_gene_variant BRCA-UK 12 112122349 112122350 deletion of <=200bp AC - intron_variant BRCA-UK 12 112122349 112122350 deletion of <=200bp AC - upstream_gene_variant BRCA-US 12 112096541 112096541 single base substitution T G missense_variant E228A 683A>C BRCA-US 12 112096541 112096541 single base substitution T G missense_variant E377A 1130A>C BRCA-US 12 112096541 112096541 single base substitution T G missense_variant E407A 1220A>C BRCA-US 12 112096541 112096541 single base substitution T G splice_region_variant BRCA-US 12 112096634 112096634 single base substitution C T exon_variant BRCA-US 12 112096634 112096634 single base substitution C T missense_variant R197Q 590G>A BRCA-US 12 112096634 112096634 single base substitution C T missense_variant R346Q 1037G>A BRCA-US 12 112096634 112096634 single base substitution C T missense_variant R376Q 1127G>A BRCA-US 12 112103450 112103450 single base substitution C T exon_variant BRCA-US 12 112103450 112103450 single base substitution C T missense_variant D118N 352G>A BRCA-US 12 112103450 112103450 single base substitution C T missense_variant D267N 799G>A BRCA-US 12 112103450 112103450 single base substitution C T missense_variant D297N 889G>A BRCA-US 12 112117032 112117032 single base substitution C T missense_variant E156K 466G>A BRCA-US 12 112117032 112117032 single base substitution C T missense_variant E186K 556G>A BRCA-US 12 112117032 112117032 single base substitution C T missense_variant E45K 133G>A BRCA-US 12 112117118 112117118 single base substitution A T missense_variant V127E 380T>A BRCA-US 12 112117118 112117118 single base substitution A T missense_variant V157E 470T>A BRCA-US 12 112117118 112117118 single base substitution A T missense_variant V16E 47T>A BRCA-US 12 112121094 112121094 single base substitution C T missense_variant E34K 100G>A BRCA-US 12 112121094 112121094 single base substitution C T missense_variant E4K 10G>A BRCA-US 12 112121094 112121094 single base substitution C T upstream_gene_variant BRCA-US 12 112121100 112121100 single base substitution A C missense_variant S2A 4T>G BRCA-US 12 112121100 112121100 single base substitution A C missense_variant S32A 94T>G BRCA-US 12 112121100 112121100 single base substitution A C upstream_gene_variant BTCA-JP 12 112082327 112082327 single base substitution G A exon_variant BTCA-JP 12 112082327 112082327 single base substitution G A synonymous_variant N306N 918C>T BTCA-JP 12 112082327 112082327 single base substitution G A synonymous_variant N455N 1365C>T BTCA-JP 12 112082327 112082327 single base substitution G A synonymous_variant N485N 1455C>T BTCA-JP 12 112093396 112093396 single base substitution G A exon_variant BTCA-JP 12 112093396 112093396 single base substitution G A missense_variant R250W 748C>T BTCA-JP 12 112093396 112093396 single base substitution G A missense_variant R399W 1195C>T BTCA-JP 12 112093396 112093396 single base substitution G A missense_variant R429W 1285C>T BTCA-JP 12 112097094 112097094 single base substitution C T exon_variant BTCA-JP 12 112097094 112097094 single base substitution C T missense_variant R164Q 491G>A BTCA-JP 12 112097094 112097094 single base substitution C T missense_variant R313Q 938G>A BTCA-JP 12 112097094 112097094 single base substitution C T missense_variant R343Q 1028G>A BTCA-JP 12 112117007 112117007 single base substitution A G missense_variant I164T 491T>C BTCA-JP 12 112117007 112117007 single base substitution A G missense_variant I194T 581T>C BTCA-JP 12 112117007 112117007 single base substitution A G missense_variant I53T 158T>C CESC-US 12 112103478 112103478 single base substitution G T exon_variant CESC-US 12 112103478 112103478 single base substitution G T missense_variant F108L 324C>A CESC-US 12 112103478 112103478 single base substitution G T missense_variant F257L 771C>A CESC-US 12 112103478 112103478 single base substitution G T missense_variant F287L 861C>A CESC-US 12 112103588 112103588 single base substitution C T exon_variant CESC-US 12 112103588 112103588 single base substitution C T missense_variant A221T 661G>A CESC-US 12 112103588 112103588 single base substitution C T missense_variant A251T 751G>A CESC-US 12 112103588 112103588 single base substitution C T missense_variant A72T 214G>A CESC-US 12 112119469 112119469 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 112119469 112119469 single base substitution G C missense_variant H109D 325C>G CESC-US 12 112119469 112119469 single base substitution G C missense_variant H139D 415C>G CESC-US 12 112119640 112119640 single base substitution C G splice_acceptor_variant CESC-US 12 112119640 112119640 single base substitution C G upstream_gene_variant CLLE-ES 12 112094436 112094436 single base substitution C T intron_variant CLLE-ES 12 112121637 112121637 single base substitution C T intron_variant CLLE-ES 12 112121637 112121637 single base substitution C T upstream_gene_variant COAD-US 12 112087828 112087828 single base substitution T G exon_variant COAD-US 12 112087828 112087828 single base substitution T G missense_variant K265Q 793A>C COAD-US 12 112087828 112087828 single base substitution T G missense_variant K414Q 1240A>C COAD-US 12 112087828 112087828 single base substitution T G missense_variant K444Q 1330A>C COCA-CN 12 112082022 112082022 single base substitution C T downstream_gene_variant COCA-CN 12 112082022 112082022 single base substitution C T missense_variant R408H 1223G>A COCA-CN 12 112082022 112082022 single base substitution C T missense_variant R557H 1670G>A COCA-CN 12 112082022 112082022 single base substitution C T missense_variant R587H 1760G>A COCA-CN 12 112087819 112087819 single base substitution C A exon_variant COCA-CN 12 112087819 112087819 single base substitution C A stop_gained E268* 802G>T COCA-CN 12 112087819 112087819 single base substitution C A stop_gained E417* 1249G>T COCA-CN 12 112087819 112087819 single base substitution C A stop_gained E447* 1339G>T COCA-CN 12 112097105 112097105 single base substitution C T exon_variant COCA-CN 12 112097105 112097105 single base substitution C T synonymous_variant R160R 480G>A COCA-CN 12 112097105 112097105 single base substitution C T synonymous_variant R309R 927G>A COCA-CN 12 112097105 112097105 single base substitution C T synonymous_variant R339R 1017G>A COCA-CN 12 112098322 112098322 single base substitution G T intron_variant COCA-CN 12 112098496 112098496 single base substitution A C intron_variant COCA-CN 12 112119436 112119436 single base substitution C T intron_variant COCA-CN 12 112119436 112119436 single base substitution C T splice_region_variant COCA-CN 12 112123640 112123640 single base substitution G T 5_prime_UTR_variant COCA-CN 12 112123640 112123640 single base substitution G T upstream_gene_variant EOPC-DE 12 112079344 112079344 single base substitution C T downstream_gene_variant ESAD-UK 12 112077828 112077828 single base substitution G A downstream_gene_variant ESAD-UK 12 112079070 112079070 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 112080023 112080023 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 112080023 112080023 single base substitution C T downstream_gene_variant ESAD-UK 12 112080113 112080113 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 112080113 112080113 single base substitution T C downstream_gene_variant ESAD-UK 12 112081243 112081243 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 112081243 112081243 single base substitution G A downstream_gene_variant ESAD-UK 12 112083193 112083193 deletion of <=200bp T - intron_variant ESAD-UK 12 112083295 112083295 single base substitution G A intron_variant ESAD-UK 12 112089050 112089050 insertion of <=200bp - ATC intron_variant ESAD-UK 12 112093128 112093128 single base substitution G C intron_variant ESAD-UK 12 112097207 112097207 single base substitution G A intron_variant ESAD-UK 12 112097664 112097664 deletion of <=200bp T - intron_variant ESAD-UK 12 112099241 112099241 single base substitution G A intron_variant ESAD-UK 12 112101951 112101951 single base substitution G A intron_variant ESAD-UK 12 112103588 112103588 single base substitution C T exon_variant ESAD-UK 12 112103588 112103588 single base substitution C T missense_variant A221T 661G>A ESAD-UK 12 112103588 112103588 single base substitution C T missense_variant A251T 751G>A ESAD-UK 12 112103588 112103588 single base substitution C T missense_variant A72T 214G>A ESAD-UK 12 112106144 112106144 single base substitution T A intron_variant ESAD-UK 12 112111845 112111845 single base substitution G A intron_variant ESAD-UK 12 112111845 112111845 single base substitution G A upstream_gene_variant ESAD-UK 12 112112973 112112973 single base substitution G A intron_variant ESAD-UK 12 112112973 112112973 single base substitution G A upstream_gene_variant ESAD-UK 12 112113859 112113859 deletion of <=200bp T - intron_variant ESAD-UK 12 112113859 112113859 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 112115438 112115438 single base substitution T A intron_variant ESAD-UK 12 112115438 112115438 single base substitution T A upstream_gene_variant ESAD-UK 12 112119572 112119572 single base substitution T G missense_variant K104N 312A>C ESAD-UK 12 112119572 112119572 single base substitution T G missense_variant K74N 222A>C ESAD-UK 12 112119572 112119572 single base substitution T G upstream_gene_variant ESAD-UK 12 112123614 112123614 single base substitution G C 5_prime_UTR_variant ESAD-UK 12 112123614 112123614 single base substitution G C upstream_gene_variant ESAD-UK 12 112124977 112124977 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 12 112125409 112125409 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 112125723 112125723 single base substitution G T upstream_gene_variant ESAD-UK 12 112126732 112126732 single base substitution C T upstream_gene_variant ESAD-UK 12 112127645 112127645 single base substitution G A upstream_gene_variant KIRP-US 12 112096635 112096635 single base substitution G A exon_variant KIRP-US 12 112096635 112096635 single base substitution G A stop_gained R197* 589C>T KIRP-US 12 112096635 112096635 single base substitution G A stop_gained R346* 1036C>T KIRP-US 12 112096635 112096635 single base substitution G A stop_gained R376* 1126C>T LAML-KR 12 112086207 112086207 single base substitution A G intron_variant LAML-KR 12 112098908 112098908 single base substitution C T intron_variant LAML-KR 12 112099169 112099169 single base substitution A T intron_variant LGG-US 12 112110475 112110475 single base substitution T C exon_variant LGG-US 12 112110475 112110475 single base substitution T C intron_variant LGG-US 12 112110475 112110475 single base substitution T C missense_variant K216R 647A>G LGG-US 12 112110475 112110475 single base substitution T C missense_variant K246R 737A>G LICA-CN 12 112103459 112103459 single base substitution G A exon_variant LICA-CN 12 112103459 112103459 single base substitution G A missense_variant R115C 343C>T LICA-CN 12 112103459 112103459 single base substitution G A missense_variant R264C 790C>T LICA-CN 12 112103459 112103459 single base substitution G A missense_variant R294C 880C>T LICA-FR 12 112092122 112092122 insertion of <=200bp - T intron_variant LICA-FR 12 112097048 112097048 single base substitution C A exon_variant LICA-FR 12 112097048 112097048 single base substitution C A missense_variant M179I 537G>T LICA-FR 12 112097048 112097048 single base substitution C A missense_variant M328I 984G>T LICA-FR 12 112097048 112097048 single base substitution C A missense_variant M358I 1074G>T LICA-FR 12 112097068 112097068 single base substitution T G exon_variant LICA-FR 12 112097068 112097068 single base substitution T G missense_variant T173P 517A>C LICA-FR 12 112097068 112097068 single base substitution T G missense_variant T322P 964A>C LICA-FR 12 112097068 112097068 single base substitution T G missense_variant T352P 1054A>C LICA-FR 12 112115874 112115874 single base substitution T C intron_variant LICA-FR 12 112115874 112115874 single base substitution T C upstream_gene_variant LICA-FR 12 112116325 112116325 single base substitution G T intron_variant LICA-FR 12 112120989 112120989 single base substitution T C missense_variant M39V 115A>G LICA-FR 12 112120989 112120989 single base substitution T C missense_variant M69V 205A>G LICA-FR 12 112120989 112120989 single base substitution T C upstream_gene_variant LIHC-US 12 112093435 112093435 single base substitution G C exon_variant LIHC-US 12 112093435 112093435 single base substitution G C missense_variant L237V 709C>G LIHC-US 12 112093435 112093435 single base substitution G C missense_variant L386V 1156C>G LIHC-US 12 112093435 112093435 single base substitution G C missense_variant L416V 1246C>G LIHC-US 12 112098444 112098444 single base substitution G A exon_variant LIHC-US 12 112098444 112098444 single base substitution G A missense_variant P132L 395C>T LIHC-US 12 112098444 112098444 single base substitution G A missense_variant P281L 842C>T LIHC-US 12 112098444 112098444 single base substitution G A missense_variant P311L 932C>T LINC-JP 12 112081967 112081967 single base substitution G A 3_prime_UTR_variant LINC-JP 12 112081967 112081967 single base substitution G A downstream_gene_variant LINC-JP 12 112082173 112082173 single base substitution T A exon_variant LINC-JP 12 112082173 112082173 single base substitution T A missense_variant M358L 1072A>T LINC-JP 12 112082173 112082173 single base substitution T A missense_variant M507L 1519A>T LINC-JP 12 112082173 112082173 single base substitution T A missense_variant M537L 1609A>T LINC-JP 12 112082706 112082706 single base substitution A C intron_variant LINC-JP 12 112083010 112083010 single base substitution T G intron_variant LINC-JP 12 112088718 112088718 single base substitution T G intron_variant LINC-JP 12 112096724 112096724 deletion of <=200bp T - intron_variant LINC-JP 12 112107629 112107629 single base substitution C T intron_variant LINC-JP 12 112124068 112124068 single base substitution G T upstream_gene_variant LIRI-JP 12 112075505 112075505 single base substitution G T downstream_gene_variant LIRI-JP 12 112077141 112077141 single base substitution T A downstream_gene_variant LIRI-JP 12 112078828 112078828 single base substitution G A downstream_gene_variant LIRI-JP 12 112078867 112078867 single base substitution C T downstream_gene_variant LIRI-JP 12 112084646 112084646 single base substitution T C intron_variant LIRI-JP 12 112087346 112087357 deletion of <=200bp TTCAACATCTCT - intron_variant LIRI-JP 12 112090506 112090506 single base substitution T G intron_variant LIRI-JP 12 112092436 112092436 single base substitution C A intron_variant LIRI-JP 12 112093970 112093970 single base substitution C A intron_variant LIRI-JP 12 112095355 112095355 single base substitution T C intron_variant LIRI-JP 12 112096420 112096420 single base substitution G A intron_variant LIRI-JP 12 112096923 112096923 single base substitution T C intron_variant LIRI-JP 12 112100315 112100315 single base substitution T C intron_variant LIRI-JP 12 112101066 112101066 single base substitution G A intron_variant LIRI-JP 12 112104129 112104129 single base substitution A C intron_variant LIRI-JP 12 112106000 112106000 single base substitution G C intron_variant LIRI-JP 12 112106132 112106132 single base substitution T C intron_variant LIRI-JP 12 112107027 112107027 single base substitution C A intron_variant LIRI-JP 12 112107933 112107933 single base substitution T C intron_variant LIRI-JP 12 112108462 112108462 single base substitution T C intron_variant LIRI-JP 12 112113453 112113453 single base substitution T A intron_variant LIRI-JP 12 112113453 112113453 single base substitution T A upstream_gene_variant LIRI-JP 12 112113698 112113698 single base substitution C G intron_variant LIRI-JP 12 112113698 112113698 single base substitution C G upstream_gene_variant LIRI-JP 12 112114706 112114706 single base substitution G A intron_variant LIRI-JP 12 112114706 112114706 single base substitution G A upstream_gene_variant LIRI-JP 12 112115180 112115180 single base substitution C A intron_variant LIRI-JP 12 112115180 112115180 single base substitution C A upstream_gene_variant LIRI-JP 12 112115507 112115507 single base substitution G C intron_variant LIRI-JP 12 112115507 112115507 single base substitution G C upstream_gene_variant LIRI-JP 12 112115988 112115988 single base substitution G C intron_variant LIRI-JP 12 112115988 112115988 single base substitution G C upstream_gene_variant LIRI-JP 12 112119464 112119464 single base substitution A G 5_prime_UTR_variant LIRI-JP 12 112119464 112119464 single base substitution A G synonymous_variant G110G 330T>C LIRI-JP 12 112119464 112119464 single base substitution A G synonymous_variant G140G 420T>C LIRI-JP 12 112119525 112119525 single base substitution T C missense_variant K120R 359A>G LIRI-JP 12 112119525 112119525 single base substitution T C missense_variant K90R 269A>G LIRI-JP 12 112119525 112119525 single base substitution T C upstream_gene_variant LIRI-JP 12 112120119 112120119 single base substitution T C intron_variant LIRI-JP 12 112120119 112120119 single base substitution T C upstream_gene_variant LIRI-JP 12 112120553 112120553 single base substitution T C intron_variant LIRI-JP 12 112120553 112120553 single base substitution T C upstream_gene_variant LIRI-JP 12 112120568 112120568 single base substitution T C intron_variant LIRI-JP 12 112120568 112120568 single base substitution T C upstream_gene_variant LIRI-JP 12 112121342 112121342 single base substitution T G intron_variant LIRI-JP 12 112121342 112121342 single base substitution T G upstream_gene_variant LUSC-KR 12 112082131 112082131 single base substitution C A downstream_gene_variant LUSC-KR 12 112082131 112082131 single base substitution C A missense_variant A372S 1114G>T LUSC-KR 12 112082131 112082131 single base substitution C A missense_variant A521S 1561G>T LUSC-KR 12 112082131 112082131 single base substitution C A missense_variant A551S 1651G>T LUSC-KR 12 112085946 112085946 single base substitution C A intron_variant LUSC-KR 12 112085956 112085956 single base substitution G A intron_variant LUSC-KR 12 112086207 112086207 single base substitution A G intron_variant LUSC-KR 12 112086433 112086433 single base substitution G C intron_variant LUSC-KR 12 112089460 112089460 single base substitution G T intron_variant LUSC-KR 12 112089555 112089555 single base substitution C T intron_variant LUSC-KR 12 112091496 112091496 single base substitution G T intron_variant LUSC-KR 12 112097071 112097071 single base substitution C T exon_variant LUSC-KR 12 112097071 112097071 single base substitution C T missense_variant E172K 514G>A LUSC-KR 12 112097071 112097071 single base substitution C T missense_variant E321K 961G>A LUSC-KR 12 112097071 112097071 single base substitution C T missense_variant E351K 1051G>A LUSC-KR 12 112099400 112099400 single base substitution C A intron_variant LUSC-KR 12 112110489 112110489 single base substitution T C exon_variant LUSC-KR 12 112110489 112110489 single base substitution T C intron_variant LUSC-KR 12 112110489 112110489 single base substitution T C synonymous_variant R211R 633A>G LUSC-KR 12 112110489 112110489 single base substitution T C synonymous_variant R241R 723A>G LUSC-KR 12 112121938 112121938 single base substitution G T intron_variant LUSC-KR 12 112121938 112121938 single base substitution G T upstream_gene_variant LUSC-US 12 112082156 112082156 single base substitution T A exon_variant LUSC-US 12 112082156 112082156 single base substitution T A synonymous_variant T363T 1089A>T LUSC-US 12 112082156 112082156 single base substitution T A synonymous_variant T512T 1536A>T LUSC-US 12 112082156 112082156 single base substitution T A synonymous_variant T542T 1626A>T LUSC-US 12 112087808 112087808 single base substitution C G exon_variant LUSC-US 12 112087808 112087808 single base substitution C G missense_variant E271D 813G>C LUSC-US 12 112087808 112087808 single base substitution C G missense_variant E420D 1260G>C LUSC-US 12 112087808 112087808 single base substitution C G missense_variant E450D 1350G>C MALY-DE 12 112084526 112084526 single base substitution G A intron_variant MALY-DE 12 112106333 112106333 single base substitution T A intron_variant MALY-DE 12 112110507 112110507 single base substitution C G exon_variant MALY-DE 12 112110507 112110507 single base substitution C G intron_variant MALY-DE 12 112110507 112110507 single base substitution C G missense_variant Q205H 615G>C MALY-DE 12 112110507 112110507 single base substitution C G missense_variant Q235H 705G>C MALY-DE 12 112124350 112124350 single base substitution C T upstream_gene_variant MELA-AU 12 112075489 112075489 single base substitution G A downstream_gene_variant MELA-AU 12 112075800 112075800 single base substitution C T downstream_gene_variant MELA-AU 12 112076417 112076417 single base substitution G A downstream_gene_variant MELA-AU 12 112076684 112076684 single base substitution G T downstream_gene_variant MELA-AU 12 112077103 112077103 single base substitution C T downstream_gene_variant MELA-AU 12 112077872 112077872 single base substitution C T downstream_gene_variant MELA-AU 12 112078347 112078347 single base substitution G C downstream_gene_variant MELA-AU 12 112078848 112078848 single base substitution G A downstream_gene_variant MELA-AU 12 112079765 112079765 single base substitution G A downstream_gene_variant MELA-AU 12 112080251 112080251 single base substitution C T 3_prime_UTR_variant MELA-AU 12 112080251 112080251 single base substitution C T downstream_gene_variant MELA-AU 12 112080544 112080544 single base substitution G A 3_prime_UTR_variant MELA-AU 12 112080544 112080544 single base substitution G A downstream_gene_variant MELA-AU 12 112080570 112080571 multiple base substitution (>=2bp and <=200bp) GA AT 3_prime_UTR_variant MELA-AU 12 112080570 112080571 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 12 112081870 112081870 single base substitution G A 3_prime_UTR_variant MELA-AU 12 112081870 112081870 single base substitution G A downstream_gene_variant MELA-AU 12 112082116 112082116 single base substitution C T downstream_gene_variant MELA-AU 12 112082116 112082116 single base substitution C T missense_variant E377K 1129G>A MELA-AU 12 112082116 112082116 single base substitution C T missense_variant E526K 1576G>A MELA-AU 12 112082116 112082116 single base substitution C T missense_variant E556K 1666G>A MELA-AU 12 112082426 112082426 single base substitution C T intron_variant MELA-AU 12 112083321 112083321 single base substitution G A intron_variant MELA-AU 12 112083418 112083418 single base substitution G A intron_variant MELA-AU 12 112084068 112084068 single base substitution T G intron_variant MELA-AU 12 112084485 112084485 single base substitution G A intron_variant MELA-AU 12 112084546 112084546 single base substitution C T intron_variant MELA-AU 12 112085489 112085489 single base substitution C T intron_variant MELA-AU 12 112086197 112086197 single base substitution C T intron_variant MELA-AU 12 112086484 112086484 single base substitution C A intron_variant MELA-AU 12 112086623 112086623 single base substitution G A intron_variant MELA-AU 12 112086649 112086649 single base substitution G A intron_variant MELA-AU 12 112087020 112087020 single base substitution G A intron_variant MELA-AU 12 112087167 112087168 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112087378 112087378 single base substitution G A intron_variant MELA-AU 12 112087967 112087967 single base substitution G A intron_variant MELA-AU 12 112088041 112088041 single base substitution C T intron_variant MELA-AU 12 112088794 112088795 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 12 112089368 112089368 single base substitution A T intron_variant MELA-AU 12 112089444 112089444 single base substitution T C intron_variant MELA-AU 12 112091390 112091390 single base substitution G A intron_variant MELA-AU 12 112091830 112091830 single base substitution T C intron_variant MELA-AU 12 112092380 112092380 single base substitution A G intron_variant MELA-AU 12 112092954 112092954 single base substitution C T intron_variant MELA-AU 12 112093311 112093311 single base substitution C T intron_variant MELA-AU 12 112093432 112093432 single base substitution C T exon_variant MELA-AU 12 112093432 112093432 single base substitution C T missense_variant E238K 712G>A MELA-AU 12 112093432 112093432 single base substitution C T missense_variant E387K 1159G>A MELA-AU 12 112093432 112093432 single base substitution C T missense_variant E417K 1249G>A MELA-AU 12 112093655 112093655 single base substitution G A intron_variant MELA-AU 12 112094425 112094425 single base substitution G A intron_variant MELA-AU 12 112095576 112095576 single base substitution G A intron_variant MELA-AU 12 112095621 112095621 single base substitution T C intron_variant MELA-AU 12 112099009 112099009 single base substitution C T intron_variant MELA-AU 12 112099659 112099659 single base substitution G A intron_variant MELA-AU 12 112099798 112099798 single base substitution A C intron_variant MELA-AU 12 112099816 112099816 single base substitution G A intron_variant MELA-AU 12 112100648 112100648 single base substitution G A intron_variant MELA-AU 12 112102042 112102042 single base substitution G A intron_variant MELA-AU 12 112102328 112102328 single base substitution G A intron_variant MELA-AU 12 112103236 112103236 single base substitution G A intron_variant MELA-AU 12 112104045 112104045 single base substitution G A intron_variant MELA-AU 12 112104482 112104482 single base substitution G A intron_variant MELA-AU 12 112106144 112106144 single base substitution T A intron_variant MELA-AU 12 112106852 112106852 single base substitution G A intron_variant MELA-AU 12 112107051 112107051 single base substitution G A intron_variant MELA-AU 12 112107100 112107100 single base substitution C T intron_variant MELA-AU 12 112108046 112108046 single base substitution G A intron_variant MELA-AU 12 112108364 112108364 single base substitution C T intron_variant MELA-AU 12 112108391 112108391 single base substitution G A intron_variant MELA-AU 12 112108627 112108627 single base substitution G A intron_variant MELA-AU 12 112108767 112108767 single base substitution G A intron_variant MELA-AU 12 112109099 112109099 single base substitution A T intron_variant MELA-AU 12 112109370 112109370 single base substitution G A intron_variant MELA-AU 12 112109596 112109596 single base substitution C T intron_variant MELA-AU 12 112109905 112109905 single base substitution G A intron_variant MELA-AU 12 112111204 112111204 single base substitution A G intron_variant MELA-AU 12 112111204 112111204 single base substitution A G upstream_gene_variant MELA-AU 12 112111860 112111860 single base substitution G A intron_variant MELA-AU 12 112111860 112111860 single base substitution G A upstream_gene_variant MELA-AU 12 112113230 112113230 single base substitution G A intron_variant MELA-AU 12 112113230 112113230 single base substitution G A upstream_gene_variant MELA-AU 12 112113767 112113767 single base substitution G C intron_variant MELA-AU 12 112113767 112113767 single base substitution G C upstream_gene_variant MELA-AU 12 112114879 112114879 single base substitution A G intron_variant MELA-AU 12 112114879 112114879 single base substitution A G upstream_gene_variant MELA-AU 12 112114898 112114898 single base substitution A C intron_variant MELA-AU 12 112114898 112114898 single base substitution A C upstream_gene_variant MELA-AU 12 112115180 112115180 single base substitution C T intron_variant MELA-AU 12 112115180 112115180 single base substitution C T upstream_gene_variant MELA-AU 12 112115221 112115221 single base substitution T A intron_variant MELA-AU 12 112115221 112115221 single base substitution T A upstream_gene_variant MELA-AU 12 112115224 112115224 single base substitution A G intron_variant MELA-AU 12 112115224 112115224 single base substitution A G upstream_gene_variant MELA-AU 12 112115653 112115653 single base substitution G A intron_variant MELA-AU 12 112115653 112115653 single base substitution G A upstream_gene_variant MELA-AU 12 112115982 112115982 single base substitution G A intron_variant MELA-AU 12 112115982 112115982 single base substitution G A upstream_gene_variant MELA-AU 12 112116105 112116105 single base substitution A G intron_variant MELA-AU 12 112116105 112116105 single base substitution A G upstream_gene_variant MELA-AU 12 112116517 112116517 single base substitution G A intron_variant MELA-AU 12 112116855 112116855 single base substitution C T intron_variant MELA-AU 12 112118245 112118245 single base substitution A G intron_variant MELA-AU 12 112119355 112119355 single base substitution C T intron_variant MELA-AU 12 112120770 112120782 deletion of <=200bp ATTTGGAAGAAAT - intron_variant MELA-AU 12 112120770 112120782 deletion of <=200bp ATTTGGAAGAAAT - upstream_gene_variant MELA-AU 12 112120952 112120952 single base substitution G A missense_variant P51L 152C>T MELA-AU 12 112120952 112120952 single base substitution G A missense_variant P81L 242C>T MELA-AU 12 112120952 112120952 single base substitution G A upstream_gene_variant MELA-AU 12 112121180 112121180 single base substitution C T intron_variant MELA-AU 12 112121180 112121180 single base substitution C T upstream_gene_variant MELA-AU 12 112121603 112121603 single base substitution C T intron_variant MELA-AU 12 112121603 112121603 single base substitution C T upstream_gene_variant MELA-AU 12 112121972 112121972 single base substitution G A intron_variant MELA-AU 12 112121972 112121972 single base substitution G A upstream_gene_variant MELA-AU 12 112122414 112122414 single base substitution G A intron_variant MELA-AU 12 112122414 112122414 single base substitution G A upstream_gene_variant MELA-AU 12 112122567 112122567 single base substitution G A intron_variant MELA-AU 12 112122567 112122567 single base substitution G A upstream_gene_variant MELA-AU 12 112122892 112122892 single base substitution G T intron_variant MELA-AU 12 112122892 112122892 single base substitution G T upstream_gene_variant MELA-AU 12 112123769 112123769 single base substitution C T 5_prime_UTR_variant MELA-AU 12 112123769 112123769 single base substitution C T upstream_gene_variant MELA-AU 12 112123817 112123817 single base substitution G A upstream_gene_variant MELA-AU 12 112123863 112123863 single base substitution C T upstream_gene_variant MELA-AU 12 112126215 112126215 single base substitution C T upstream_gene_variant MELA-AU 12 112126353 112126353 single base substitution C T upstream_gene_variant MELA-AU 12 112126821 112126821 single base substitution C T upstream_gene_variant MELA-AU 12 112126828 112126828 single base substitution C T upstream_gene_variant MELA-AU 12 112127439 112127439 single base substitution C T upstream_gene_variant MELA-AU 12 112127746 112127747 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 112127844 112127844 single base substitution T C upstream_gene_variant MELA-AU 12 112128410 112128410 single base substitution G A upstream_gene_variant MELA-AU 12 112128673 112128673 single base substitution G A upstream_gene_variant ORCA-IN 12 112101690 112101690 single base substitution C G intron_variant ORCA-IN 12 112111332 112111332 deletion of <=200bp G - intron_variant ORCA-IN 12 112111332 112111332 deletion of <=200bp G - upstream_gene_variant ORCA-IN 12 112116792 112116792 single base substitution C G intron_variant ORCA-IN 12 112126914 112126914 single base substitution G A upstream_gene_variant OV-AU 12 112077032 112077032 single base substitution T A downstream_gene_variant OV-AU 12 112080477 112080477 single base substitution T C 3_prime_UTR_variant OV-AU 12 112080477 112080477 single base substitution T C downstream_gene_variant OV-AU 12 112080779 112080779 single base substitution A G 3_prime_UTR_variant OV-AU 12 112080779 112080779 single base substitution A G downstream_gene_variant OV-AU 12 112086479 112086479 single base substitution C G intron_variant OV-AU 12 112087220 112087220 single base substitution G A intron_variant OV-AU 12 112090456 112090456 single base substitution G T intron_variant OV-AU 12 112091895 112091895 single base substitution A G intron_variant OV-AU 12 112091900 112091900 single base substitution C T intron_variant OV-AU 12 112093276 112093276 single base substitution G C intron_variant OV-AU 12 112106617 112106617 single base substitution C T intron_variant OV-AU 12 112109394 112109394 single base substitution G A intron_variant OV-AU 12 112109404 112109404 single base substitution G A intron_variant OV-AU 12 112110986 112110986 single base substitution C T exon_variant OV-AU 12 112110986 112110986 single base substitution C T intron_variant OV-AU 12 112113809 112113809 single base substitution T A intron_variant OV-AU 12 112113809 112113809 single base substitution T A upstream_gene_variant OV-AU 12 112114745 112114745 single base substitution T G intron_variant OV-AU 12 112114745 112114745 single base substitution T G upstream_gene_variant PACA-AU 12 112078689 112078689 single base substitution C T downstream_gene_variant PACA-AU 12 112087527 112087527 single base substitution G C intron_variant PACA-AU 12 112089079 112089079 single base substitution C T intron_variant PACA-AU 12 112095412 112095412 single base substitution G A intron_variant PACA-AU 12 112100207 112100207 single base substitution A G intron_variant PACA-AU 12 112103082 112103082 single base substitution A G intron_variant PACA-AU 12 112105787 112105787 single base substitution C T intron_variant PACA-AU 12 112118427 112118427 single base substitution G C intron_variant PACA-AU 12 112126614 112126615 deletion of <=200bp AC - upstream_gene_variant PACA-CA 12 112079005 112079005 single base substitution A G downstream_gene_variant PACA-CA 12 112081504 112081504 single base substitution T C 3_prime_UTR_variant PACA-CA 12 112081504 112081504 single base substitution T C downstream_gene_variant PACA-CA 12 112086679 112086679 single base substitution G A intron_variant PACA-CA 12 112086826 112086826 deletion of <=200bp A - intron_variant PACA-CA 12 112094474 112094474 single base substitution T C intron_variant PACA-CA 12 112094836 112094836 single base substitution C A intron_variant PACA-CA 12 112097664 112097664 deletion of <=200bp T - intron_variant PACA-CA 12 112100075 112100075 single base substitution C T intron_variant PACA-CA 12 112101143 112101143 single base substitution G A intron_variant PACA-CA 12 112105135 112105135 single base substitution A G intron_variant PACA-CA 12 112109737 112109737 single base substitution C T intron_variant PACA-CA 12 112109855 112109855 single base substitution A T intron_variant PACA-CA 12 112115058 112115058 single base substitution T C intron_variant PACA-CA 12 112115058 112115058 single base substitution T C upstream_gene_variant PACA-CA 12 112126600 112126600 single base substitution C T upstream_gene_variant PAEN-AU 12 112086244 112086244 single base substitution C G intron_variant PAEN-AU 12 112098974 112098974 single base substitution G A intron_variant PAEN-AU 12 112103054 112103054 single base substitution A G intron_variant PAEN-AU 12 112106985 112106985 single base substitution G A intron_variant PAEN-AU 12 112119255 112119255 single base substitution G A intron_variant PAEN-AU 12 112124019 112124019 single base substitution G A upstream_gene_variant PAEN-AU 12 112126159 112126159 single base substitution G A upstream_gene_variant PAEN-IT 12 112087341 112087341 single base substitution C A intron_variant PAEN-IT 12 112128763 112128763 single base substitution T C upstream_gene_variant PBCA-DE 12 112089030 112089032 deletion of <=200bp TAA - intron_variant PBCA-DE 12 112090835 112090835 insertion of <=200bp - T intron_variant PBCA-DE 12 112101543 112101543 single base substitution T C intron_variant PBCA-DE 12 112101877 112101877 single base substitution C T intron_variant PBCA-DE 12 112108880 112108880 single base substitution G T intron_variant PBCA-DE 12 112111887 112111887 single base substitution C T intron_variant PBCA-DE 12 112111887 112111887 single base substitution C T upstream_gene_variant PBCA-DE 12 112112988 112112988 single base substitution C T intron_variant PBCA-DE 12 112112988 112112988 single base substitution C T upstream_gene_variant PBCA-DE 12 112113168 112113168 insertion of <=200bp - AA intron_variant PBCA-DE 12 112113168 112113168 insertion of <=200bp - AA upstream_gene_variant PBCA-DE 12 112127482 112127482 single base substitution G A upstream_gene_variant PRAD-CA 12 112105386 112105386 single base substitution C A intron_variant PRAD-CA 12 112122280 112122280 single base substitution C T intron_variant PRAD-CA 12 112122280 112122280 single base substitution C T upstream_gene_variant PRAD-CA 12 112127162 112127162 single base substitution T C upstream_gene_variant PRAD-UK 12 112079702 112079702 single base substitution G A downstream_gene_variant PRAD-UK 12 112094713 112094713 single base substitution A T intron_variant PRAD-UK 12 112122284 112122284 single base substitution T C intron_variant PRAD-UK 12 112122284 112122284 single base substitution T C upstream_gene_variant RECA-EU 12 112076407 112076407 single base substitution T A downstream_gene_variant RECA-EU 12 112081232 112081232 single base substitution C A 3_prime_UTR_variant RECA-EU 12 112081232 112081232 single base substitution C A downstream_gene_variant RECA-EU 12 112099148 112099148 single base substitution G C intron_variant RECA-EU 12 112127583 112127583 single base substitution C T upstream_gene_variant SKCA-BR 12 112075692 112075694 deletion of <=200bp TAC - downstream_gene_variant SKCA-BR 12 112077849 112077849 single base substitution A G downstream_gene_variant SKCA-BR 12 112080412 112080412 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 112080412 112080412 single base substitution C T downstream_gene_variant SKCA-BR 12 112082647 112082647 single base substitution A C intron_variant SKCA-BR 12 112090744 112090744 single base substitution A C intron_variant SKCA-BR 12 112091954 112091954 single base substitution G A intron_variant SKCA-BR 12 112093138 112093139 deletion of <=200bp TA - intron_variant SKCA-BR 12 112099275 112099275 single base substitution G A intron_variant SKCA-BR 12 112107318 112107318 single base substitution C T intron_variant SKCA-BR 12 112109938 112109938 single base substitution G A intron_variant SKCA-BR 12 112110017 112110017 single base substitution A G intron_variant SKCA-BR 12 112111336 112111336 single base substitution G A intron_variant SKCA-BR 12 112111336 112111336 single base substitution G A upstream_gene_variant SKCA-BR 12 112115876 112115876 single base substitution G A intron_variant SKCA-BR 12 112115876 112115876 single base substitution G A upstream_gene_variant SKCA-BR 12 112116167 112116167 single base substitution T A intron_variant SKCA-BR 12 112118576 112118576 single base substitution T C intron_variant SKCA-BR 12 112120301 112120302 deletion of <=200bp CA - intron_variant SKCA-BR 12 112120301 112120302 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 12 112120730 112120730 single base substitution C A intron_variant SKCA-BR 12 112120730 112120730 single base substitution C A upstream_gene_variant SKCA-BR 12 112126301 112126301 single base substitution C T upstream_gene_variant SKCA-BR 12 112127524 112127526 deletion of <=200bp CTT - upstream_gene_variant SKCM-US 12 112082051 112082051 insertion of <=200bp - C downstream_gene_variant SKCM-US 12 112082051 112082051 insertion of <=200bp - C frameshift_variant G398G? SKCM-US 12 112082051 112082051 insertion of <=200bp - C frameshift_variant G547G? SKCM-US 12 112082051 112082051 insertion of <=200bp - C frameshift_variant G577G? SKCM-US 12 112093432 112093432 single base substitution C T exon_variant SKCM-US 12 112093432 112093432 single base substitution C T missense_variant E238K 712G>A SKCM-US 12 112093432 112093432 single base substitution C T missense_variant E387K 1159G>A SKCM-US 12 112093432 112093432 single base substitution C T missense_variant E417K 1249G>A SKCM-US 12 112116993 112116993 single base substitution G A missense_variant P169S 505C>T SKCM-US 12 112116993 112116993 single base substitution G A missense_variant P199S 595C>T SKCM-US 12 112116993 112116993 single base substitution G A missense_variant P58S 172C>T STAD-US 12 112110576 112110576 single base substitution A G exon_variant STAD-US 12 112110576 112110576 single base substitution A G intron_variant STAD-US 12 112110576 112110576 single base substitution A G splice_region_variant STAD-US 12 112116963 112116963 single base substitution G A missense_variant R179C 535C>T STAD-US 12 112116963 112116963 single base substitution G A missense_variant R209C 625C>T STAD-US 12 112116963 112116963 single base substitution G A missense_variant R68C 202C>T STAD-US 12 112119464 112119464 single base substitution A G 5_prime_UTR_variant STAD-US 12 112119464 112119464 single base substitution A G synonymous_variant G110G 330T>C STAD-US 12 112119464 112119464 single base substitution A G synonymous_variant G140G 420T>C STAD-US 12 112119584 112119584 single base substitution C T synonymous_variant A100A 300G>A STAD-US 12 112119584 112119584 single base substitution C T synonymous_variant A70A 210G>A STAD-US 12 112119584 112119584 single base substitution C T upstream_gene_variant STAD-US 12 112119630 112119630 single base substitution T A missense_variant K55I 164A>T STAD-US 12 112119630 112119630 single base substitution T A missense_variant K85I 254A>T STAD-US 12 112119630 112119630 single base substitution T A upstream_gene_variant STAD-US 12 112120995 112120995 single base substitution G A stop_gained R37* 109C>T STAD-US 12 112120995 112120995 single base substitution G A stop_gained R67* 199C>T STAD-US 12 112120995 112120995 single base substitution G A upstream_gene_variant STAD-US 12 112121078 112121078 single base substitution G A missense_variant T39M 116C>T STAD-US 12 112121078 112121078 single base substitution G A missense_variant T9M 26C>T STAD-US 12 112121078 112121078 single base substitution G A upstream_gene_variant UCEC-US 12 112096635 112096635 single base substitution G A exon_variant UCEC-US 12 112096635 112096635 single base substitution G A stop_gained R197* 589C>T UCEC-US 12 112096635 112096635 single base substitution G A stop_gained R346* 1036C>T UCEC-US 12 112096635 112096635 single base substitution G A stop_gained R376* 1126C>T UCEC-US 12 112103457 112103457 single base substitution G A exon_variant UCEC-US 12 112103457 112103457 single base substitution G A synonymous_variant R115R 345C>T UCEC-US 12 112103457 112103457 single base substitution G A synonymous_variant R264R 792C>T UCEC-US 12 112103457 112103457 single base substitution G A synonymous_variant R294R 882C>T UCEC-US 12 112103473 112103473 single base substitution C A exon_variant UCEC-US 12 112103473 112103473 single base substitution C A missense_variant S110I 329G>T UCEC-US 12 112103473 112103473 single base substitution C A missense_variant S259I 776G>T UCEC-US 12 112103473 112103473 single base substitution C A missense_variant S289I 866G>T UCEC-US 12 112110570 112110570 single base substitution C T exon_variant UCEC-US 12 112110570 112110570 single base substitution C T intron_variant UCEC-US 12 112110570 112110570 single base substitution C T synonymous_variant A184A 552G>A UCEC-US 12 112110570 112110570 single base substitution C T synonymous_variant A214A 642G>A UCEC-US 12 112117032 112117032 single base substitution C T missense_variant E156K 466G>A UCEC-US 12 112117032 112117032 single base substitution C T missense_variant E186K 556G>A UCEC-US 12 112117032 112117032 single base substitution C T missense_variant E45K 133G>A UCEC-US 12 112117114 112117114 single base substitution C T synonymous_variant R128R 384G>A UCEC-US 12 112117114 112117114 single base substitution C T synonymous_variant R158R 474G>A UCEC-US 12 112117114 112117114 single base substitution C T synonymous_variant R17R 51G>A UCEC-US 12 112121021 112121021 single base substitution G A missense_variant A28V 83C>T UCEC-US 12 112121021 112121021 single base substitution G A missense_variant A58V 173C>T UCEC-US 12 112121021 112121021 single base substitution G A upstream_gene_variant UCEC-US 12 112121036 112121036 single base substitution G A missense_variant P23L 68C>T UCEC-US 12 112121036 112121036 single base substitution G A missense_variant P53L 158C>T UCEC-US 12 112121036 112121036 single base substitution G A upstream_gene_variant UCEC-US 12 112121104 112121104 single base substitution T G 5_prime_UTR_variant UCEC-US 12 112121104 112121104 single base substitution T G missense_variant E30D 90A>C UCEC-US 12 112121104 112121104 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM279193 c.117G>A p.T39T Substitution - coding silent 12:111683273-111683273 - CSCC-11-T COSM4471532 c.1724C>T p.S575L Substitution - Missense 12:111644254-111644254 - SNU-C2B COSM1947729 c.1588C>T p.Q530* Substitution - Nonsense 12:111644390-111644390 - T3610 COSM279193 c.117G>A p.T39T Substitution - coding silent 12:111683273-111683273 - T3658 COSM4666003 c.1601G>A p.R534H Substitution - Missense 12:111644377-111644377 - DLD1 COSM1677354 c.383T>A p.F128Y Substitution - Missense 12:111681697-111681697 - TCGA-D1-A17A-01 COSM935076 c.882C>T p.R294R Substitution - coding silent 12:111665653-111665653 - TCGA-CD-A4MG-01 COSM4038739 c.636T>C p.A212A Substitution - coding silent 12:111672772-111672772 - TCGA-ES-A2HS-01 COSM4910403 c.932C>T p.P311L Substitution - Missense 12:111660640-111660640 - BD57T COSM167825 c.1285C>T p.R429W Substitution - Missense 12:111655592-111655592 - CHC1597T COSM4787802 c.1054A>C p.T352P Substitution - Missense 12:111659264-111659264 - CHC1597T COSM4787802 c.1054A>C p.T352P Substitution - Missense 12:111659264-111659264 - TCGA-AX-A0J0-01 COSM935077 c.866G>T p.S289I Substitution - Missense 12:111665669-111665669 - CHC1597T COSM4787809 c.1074G>T p.M358I Substitution - Missense 12:111659244-111659244 - PA333 COSM1163586 c.1603G>A p.D535N Substitution - Missense 12:111644375-111644375 - 587338 COSM1184863 c.725C>A p.A242D Substitution - Missense 12:111672683-111672683 - TCGA-EB-A5UN-06 COSM3456104 c.595C>T p.P199S Substitution - Missense 12:111679189-111679189 - HCT15 COSM1677354 c.383T>A p.F128Y Substitution - Missense 12:111681697-111681697 - T3202 COSM4666004 c.113_114insA p.T39fs*37 Insertion - Frameshift 12:111683276-111683277 - RK042_C01 COSM1628382 c.359A>G p.K120R Substitution - Missense 12:111681721-111681721 - TCGA-AN-A046-01 COSM935079 c.556G>A p.E186K Substitution - Missense 12:111679228-111679228 - TCGA-BR-4362-01 COSM4038740 c.625C>T p.R209C Substitution - Missense 12:111679159-111679159 - BN49 COSM1605574 c.1609A>T p.M537L Substitution - Missense 12:111644369-111644369 - GC8_T COSM147610 c.723A>G p.R241R Substitution - coding silent 12:111672685-111672685 - CSCC-52-T COSM3811017 c.889G>A p.D297N Substitution - Missense 12:111665646-111665646 - TCGA-B0-5709-01 COSM467793 c.416A>G p.H139R Substitution - Missense 12:111681664-111681664 - 2290929 COSM4440311 c.1566delA p.D523fs*>70 Deletion - Frameshift 12:111644412-111644412 - TCGA-EK-A3GK-01 COSM4853649 c.415C>G p.H139D Substitution - Missense 12:111681665-111681665 - 587336 COSM1184862 c.1311+2T>C p.? Unknown 12:111655564-111655564 - BD124T COSM5493024 c.1028G>A p.R343Q Substitution - Missense 12:111659290-111659290 - BN49T COSM1605574 c.1609A>T p.M537L Substitution - Missense 12:111644369-111644369 - MOLT-4 COSM1677353 c.1492C>T p.R498* Substitution - Nonsense 12:111644486-111644486 - SNU-C2B COSM1947728 c.1604A>T p.D535V Substitution - Missense 12:111644374-111644374 - HT115 COSM935079 c.556G>A p.E186K Substitution - Missense 12:111679228-111679228 - 86788 COSM93975 c.940G>A p.E314K Substitution - Missense 12:111660632-111660632 - Pat_11_A COSM5840125 c.350C>T p.S117F Substitution - Missense 12:111681730-111681730 - TCGA-EE-A20C-06 COSM3456103 c.1249G>A p.E417K Substitution - Missense 12:111655628-111655628 - RK042_C COSM1628382 c.359A>G p.K120R Substitution - Missense 12:111681721-111681721 - TCGA-AP-A056-01 COSM935079 c.556G>A p.E186K Substitution - Missense 12:111679228-111679228 - sysucc-1247T COSM5764611 c.1017G>A p.R339R Substitution - coding silent 12:111659301-111659301 - TCGA-D1-A174-01 COSM935081 c.173C>T p.A58V Substitution - Missense 12:111683217-111683217 - RK308_C01 COSM3739426 c.420T>C p.G140G Substitution - coding silent 12:111681660-111681660 - TCGA-BT-A3PJ-01 COSM3792195 c.1403C>T p.S468F Substitution - Missense 12:111649951-111649951 - TCGA-AC-A3BB-01 COSM3811017 c.889G>A p.D297N Substitution - Missense 12:111665646-111665646 - Pat_08_B COSM1947762 c.113delA p.K38fs*4 Deletion - Frameshift 12:111683277-111683277 - TCGA-66-2766-01 COSM692118 c.1626A>T p.T542T Substitution - coding silent 12:111644352-111644352 - P04-594 COSM243227 c.352C>G p.P118A Substitution - Missense 12:111681728-111681728 - BD177T COSM5517435 c.581T>C p.I194T Substitution - Missense 12:111679203-111679203 - TCGA-P4-A5ED-01 COSM935075 c.1126C>T p.R376* Substitution - Nonsense 12:111658831-111658831 - WA16 COSM238981 c.197G>A p.R66H Substitution - Missense 12:111683193-111683193 - HCT8 COSM1677354 c.383T>A p.F128Y Substitution - Missense 12:111681697-111681697 - BD49T COSM5498083 c.1455C>T p.N485N Substitution - coding silent 12:111644523-111644523 - PT34 COSM5910779 c.596C>T p.P199L Substitution - Missense 12:111679188-111679188 - ESO-0071 COSM1246202 c.893C>T p.T298I Substitution - Missense 12:111665642-111665642 - TCGA-CD-A4MG-01 COSM3739426 c.420T>C p.G140G Substitution - coding silent 12:111681660-111681660 - CSCC-11-T COSM167825 c.1285C>T p.R429W Substitution - Missense 12:111655592-111655592 - TCGA-AN-A0AK-01 COSM3811019 c.94T>G p.S32A Substitution - Missense 12:111683296-111683296 - CHC1597T COSM4787809 c.1074G>T p.M358I Substitution - Missense 12:111659244-111659244 - TCGA-CG-4306-01 COSM4038743 c.116C>T p.T39M Substitution - Missense 12:111683274-111683274 - HCT-15 COSM1677354 c.383T>A p.F128Y Substitution - Missense 12:111681697-111681697 - SNU-175 COSM1947752 c.641C>T p.A214V Substitution - Missense 12:111672767-111672767 - Gp5D COSM1947743 c.892A>G p.T298A Substitution - Missense 12:111665643-111665643 - 587332 COSM1184864 c.896+1G>A p.? Unknown 12:111665638-111665638 - TCGA-AN-A046-01 COSM3811016 c.1127G>A p.R376Q Substitution - Missense 12:111658830-111658830 - HDC101 COSM4635891 c.1238C>A p.T413K Substitution - Missense 12:111655639-111655639 - SNU-175 COSM1947762 c.113delA p.K38fs*4 Deletion - Frameshift 12:111683277-111683277 - cSCCP1 COSM135610 c.1591G>A p.E531K Substitution - Missense 12:111644387-111644387 - TCGA-D8-A1XK-01 COSM3811018 c.470T>A p.V157E Substitution - Missense 12:111679314-111679314 - SNUH_G16_S1 COSM147610 c.723A>G p.R241R Substitution - coding silent 12:111672685-111672685 - TCGA-CA-6717-01 COSM1358780 c.1330A>C p.K444Q Substitution - Missense 12:111650024-111650024 - CHEWS019 COSM4575007 c.1540G>T p.V514L Substitution - Missense 12:111644438-111644438 - HCC104T COSM5808279 c.880C>T p.R294C Substitution - Missense 12:111665655-111665655 - PA333 COSM1163587 c.1590G>A p.Q530Q Substitution - coding silent 12:111644388-111644388 - TCGA-HW-8322-01 COSM3967982 c.737A>G p.K246R Substitution - Missense 12:111672671-111672671 - 3N32-VS-3T32 COSM4980751 c.1479G>C p.M493I Substitution - Missense 12:111644499-111644499 - TCGA-12-0656 COSM2153742 c.1320C>T p.N440N Substitution - coding silent 12:111650034-111650034 - I2L-P7-Tumor-Organoid COSM5361898 c.244G>A p.D82N Substitution - Missense 12:111683146-111683146 - TCGA-33-4547-01 COSM692117 c.1350G>C p.E450D Substitution - Missense 12:111650004-111650004 - TCGA-BG-A0MC-01 COSM935078 c.642G>A p.A214A Substitution - coding silent 12:111672766-111672766 - TCGA-BR-8363-01 COSM4038742 c.199C>T p.R67* Substitution - Nonsense 12:111683191-111683191 - PD18264a COSM5794234 c.247G>T p.E83* Substitution - Nonsense 12:111681833-111681833 - TCGA-BS-A0UV-01 COSM935075 c.1126C>T p.R376* Substitution - Nonsense 12:111658831-111658831 - TCGA-D1-A0ZN-01 COSM935082 c.158C>T p.P53L Substitution - Missense 12:111683232-111683232 - KM12 COSM1947735 c.1296G>T p.K432N Substitution - Missense 12:111655581-111655581 - TCGA-CG-5730-01 COSM4038741 c.254A>T p.K85I Substitution - Missense 12:111681826-111681826 - TCGA-B6-A2IU-01 COSM3811015 c.1220A>C p.E407A Substitution - Missense 12:111658737-111658737 - TCGA-A3-3346-01 COSM467794 c.105G>C p.E35D Substitution - Missense 12:111683285-111683285 - LC_C6 COSM1188608 c.476G>T p.R159L Substitution - Missense 12:111679308-111679308 - C113 COSM4441117 c.1259G>A p.R420Q Substitution - Missense 12:111655618-111655618 - LP2000104-DNA_A01 COSM5036903 c.751G>A p.A251T Substitution - Missense 12:111665784-111665784 - TCGA-DR-A0ZM-01 COSM458271 c.245-1G>C p.? Unknown 12:111681836-111681836 - ESCC_91 COSM5636837 c.184C>T p.Q62* Substitution - Nonsense 12:111683206-111683206 - SC_9034 COSM5551172 c.1172G>A p.C391Y Substitution - Missense 12:111658785-111658785 - TCGA-DK-A3IT-01 COSM1298919 c.26G>C p.R9P Substitution - Missense 12:111685767-111685767 - TCGA-AP-A0LM-01 COSM935080 c.474G>A p.R158R Substitution - coding silent 12:111679310-111679310 - 2T COSM3733719 c.1751G>A p.R584K Substitution - Missense 12:111644227-111644227 - TCGA-HF-7136-01 COSM1947758 c.300G>A p.A100A Substitution - coding silent 12:111681780-111681780 - CHC1603T COSM4801834 c.205A>G p.M69V Substitution - Missense 12:111683185-111683185 - Gp5D COSM1947748 c.792C>T p.C264C Substitution - coding silent 12:111665743-111665743 - 2P3 COSM3733719 c.1751G>A p.R584K Substitution - Missense 12:111644227-111644227 - SNUH_G22_S1 COSM3998665 c.927C>G p.P309P Substitution - coding silent 12:111660645-111660645 - LUAD-LC15C COSM341679 c.1011T>A p.C337* Substitution - Nonsense 12:111659307-111659307 - TCGA-AX-A05Z-01 COSM935083 c.90A>C p.E30D Substitution - Missense 12:111683300-111683300 - CSCC-27-T COSM4491472 c.380C>T p.S127L Substitution - Missense 12:111681700-111681700 - SNU-C2B COSM1947735 c.1296G>T p.K432N Substitution - Missense 12:111655581-111655581 - TCGA-BT-A0YX-01 COSM415623 c.1174G>A p.E392K Substitution - Missense 12:111658783-111658783 - TCGA-G2-A2ES-01 COSM1298918 c.1048G>A p.E350K Substitution - Missense 12:111659270-111659270 - TCGA-G3-A25Z-01 COSM4922158 c.1246C>G p.L416V Substitution - Missense 12:111655631-111655631 - sysucc-1507T COSM5766319 c.443+5G>A p.? Unknown 12:111681632-111681632 - CHC1603T COSM4801834 c.205A>G p.M69V Substitution - Missense 12:111683185-111683185 - pfg103T COSM4760185 c.1507C>T p.L503F Substitution - Missense 12:111644471-111644471 - PD4225a COSM5781407 c.671G>A p.R224H Substitution - Missense 12:111672737-111672737 - TCGA-A7-A26E-01 COSM1476130 c.100G>A p.E34K Substitution - Missense 12:111683290-111683290 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.530940 12q24 604986

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S468P c.1402T>C 12 112087756 CM A G SpliceDonorSNV . c.244+2T>C 12 112120948 STAD - C Frameshift p.E310Gfs*7 c.928dupG 12 112098448 BRCA - C Frameshift p.S578Qfs*131 c.1730dupG 12 112082052 CM C G Missense p.E450D c.1350G>C 12 112087808 LUSC C G Missense p.R9P c.26G>C 12 112123571 BLCA C T Missense p.E34K c.100G>A 12 112121094 BRCA C T Missense p.E350K c.1048G>A 12 112097074 BLCA C T Missense p.E392K c.1174G>A 12 112096587 BLCA C T Missense p.E417K c.1249G>A 12 112093432 CM C T Synonymous p.A214A c.642G>A 12 112110570 UCEC C T Synonymous p.E350E c.1050G>A 12 112097072 HNSC G A Missense p.A58V c.173C>T 12 112121021 UCEC G A Missense p.P53L c.158C>T 12 112121036 UCEC G A Missense p.S119F c.356C>T 12 112119528 CM G A Missense p.S468F c.1403C>T 12 112087755 BLCA G A Missense p.T298I c.893C>T 12 112103446 ESCA G A Missense p.T39M c.116C>T 12 112121078 STAD G A Nonsense p.R420* c.1258C>T 12 112093423 COREAD G A Synonymous p.R294R c.882C>T 12 112103457 UCEC GG AA Missense p.P53L c.157_158delinsTT 12 112121036 CM G T Synonymous p.R343R c.1027C>A 12 112097095 CM T A Missense p.K85I c.254A>T 12 112119630 STAD T A Synonymous p.T542T c.1626A>T 12 112082156 LUSC T C Missense p.K120R c.359A>G 12 112119525 HC T C Synonymous p.R498R c.1494A>G 12 112082288 HNSC