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 BRCA 12 89818982 89818982 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:89818982C>T c.1288G>A c.(1288-1290)Gat>Aat p.D430N BRCA 12 89818991 89818991 + Missense_Mutation SNP C C A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 g.chr12:89818991C>A c.1279G>T c.(1279-1281)Gct>Tct p.A427S BRCA 12 89818992 89818992 + Silent SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chr12:89818992G>T c.1278C>A c.(1276-1278)ctC>ctA p.L426L BRCA 12 89819118 89819118 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:89819118A>C c.1152T>G c.(1150-1152)ggT>ggG p.G384G BRCA 12 89864264 89864264 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:89864264G>A c.684C>T c.(682-684)agC>agT p.S228S BRCA 12 89864272 89864273 + Splice_Site DNP CT CT AG TCGA-E9-A2JS-01A-11D-A17W-09 TCGA-E9-A2JS-10A-01D-A17W-09 g.chr12:89864272_89864273CT>AG c.e7-1 CESC 12 89815013 89815013 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr12:89815013G>T c.1354C>A c.(1354-1356)Cga>Aga p.R452R CESC 12 89860565 89860565 + Silent SNP T T C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr12:89860565T>C c.1014A>G c.(1012-1014)gaA>gaG p.E338E CESC 12 89890968 89890968 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr12:89890968C>T c.252G>A c.(250-252)gtG>gtA p.V84V CHOL 12 89891025 89891025 + Missense_Mutation SNP G G T TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr12:89891025G>T c.195C>A c.(193-195)agC>agA p.S65R COAD 12 89818992 89818992 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:89818992G>A c.1278C>T c.(1276-1278)ctC>ctT p.L426L COAD 12 89819118 89819118 + Silent SNP A A C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:89819118A>C c.1152T>G c.(1150-1152)ggT>ggG p.G384G COAD 12 89860564 89860564 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:89860564T>C c.1015A>G c.(1015-1017)Aaa>Gaa p.K339E COAD 12 89860692 89860692 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:89860692A>G c.887T>C c.(886-888)tTa>tCa p.L296S COAD 12 89864201 89864201 + Silent SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:89864201A>G c.747T>C c.(745-747)gaT>gaC p.D249D COAD 12 89865994 89865994 + Missense_Mutation SNP A A C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:89865994A>C c.511T>G c.(511-513)Tgg>Ggg p.W171G COAD 12 89885873 89885873 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:89885873A>C c.292T>G c.(292-294)Ttt>Gtt p.F98V COADREAD 12 89818992 89818992 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:89818992G>A c.1278C>T c.(1276-1278)ctC>ctT p.L426L COADREAD 12 89819118 89819118 + Silent SNP A A C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:89819118A>C c.1152T>G c.(1150-1152)ggT>ggG p.G384G COADREAD 12 89860564 89860564 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:89860564T>C c.1015A>G c.(1015-1017)Aaa>Gaa p.K339E COADREAD 12 89860596 89860596 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:89860596A>G c.983T>C c.(982-984)aTc>aCc p.I328T COADREAD 12 89860692 89860692 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:89860692A>G c.887T>C c.(886-888)tTa>tCa p.L296S COADREAD 12 89864201 89864201 + Silent SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:89864201A>G c.747T>C c.(745-747)gaT>gaC p.D249D COADREAD 12 89865994 89865994 + Missense_Mutation SNP A A C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:89865994A>C c.511T>G c.(511-513)Tgg>Ggg p.W171G COADREAD 12 89885873 89885873 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:89885873A>C c.292T>G c.(292-294)Ttt>Gtt p.F98V COADREAD 12 89918951 89918951 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:89918951C>A c.46G>T c.(46-48)Ggc>Tgc p.G16C DLBC 12 89865394 89865394 + Missense_Mutation SNP G G C TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr12:89865394G>C c.673C>G c.(673-675)Caa>Gaa p.Q225E ESCA 12 89864263 89864263 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr12:89864263C>T c.685G>A c.(685-687)Ggt>Agt p.G229S ESCA 12 89865998 89865998 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr12:89865998T>G c.507A>C c.(505-507)aaA>aaC p.K169N ESCA 12 89890964 89890964 + Missense_Mutation SNP G G T TCGA-IG-A50L-01A-11D-A27G-09 TCGA-IG-A50L-10A-01D-A27G-09 g.chr12:89890964G>T c.256C>A c.(256-258)Ctc>Atc p.L86I GBM 12 89864247 89864247 + Missense_Mutation SNP A A G TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr12:89864247A>G c.701T>C c.(700-702)aTa>aCa p.I234T GBMLGG 12 89818984 89818984 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:89818984G>T c.1286C>A c.(1285-1287)aCt>aAt p.T429N GBMLGG 12 89864247 89864247 + Missense_Mutation SNP A A G TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr12:89864247A>G c.701T>C c.(700-702)aTa>aCa p.I234T HNSC 12 89819073 89819073 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr12:89819073T>C c.1197A>G c.(1195-1197)ccA>ccG p.P399P KIPAN 12 89818965 89818965 + Missense_Mutation SNP A A C TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr12:89818965A>C c.1305T>G c.(1303-1305)atT>atG p.I435M KIPAN 12 89865497 89865498 + Frame_Shift_Ins INS - - T TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr12:89865497_89865498insT c.569_570insA c.(568-570)aatfs p.N190fs KIPAN 12 89885726 89885726 + Frame_Shift_Del DEL C C - TCGA-B0-5107-01A-01D-1421-08 TCGA-B0-5107-11A-01D-1421-08 g.chr12:89885726delC c.439delG c.(439-441)gtafs p.V147fs KIPAN 12 89885862 89885862 + Silent SNP A A G TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr12:89885862A>G c.303T>C c.(301-303)caT>caC p.H101H KIRC 12 89818965 89818965 + Missense_Mutation SNP A A C TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr12:89818965A>C c.1305T>G c.(1303-1305)atT>atG p.I435M KIRC 12 89865497 89865498 + Frame_Shift_Ins INS - - T TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr12:89865497_89865498insT c.569_570insA c.(568-570)aatfs p.N190fs KIRC 12 89885726 89885726 + Frame_Shift_Del DEL C C - TCGA-B0-5107-01A-01D-1421-08 TCGA-B0-5107-11A-01D-1421-08 g.chr12:89885726delC c.439delG c.(439-441)gtafs p.V147fs KIRC 12 89885862 89885862 + Silent SNP A A G TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr12:89885862A>G c.303T>C c.(301-303)caT>caC p.H101H LGG 12 89818984 89818984 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:89818984G>T c.1286C>A c.(1285-1287)aCt>aAt p.T429N LIHC 12 89865461 89865461 + Silent SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr12:89865461A>G c.606T>C c.(604-606)gcT>gcC p.A202A LIHC 12 89885846 89885846 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr12:89885846T>C c.319A>G c.(319-321)Agt>Ggt p.S107G LUAD 12 89853465 89853465 + Nonsense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:89853465G>A c.1063C>T c.(1063-1065)Cag>Tag p.Q355* LUAD 12 89860637 89860637 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr12:89860637G>C c.942C>G c.(940-942)ctC>ctG p.L314L LUAD 12 89918896 89918896 + Splice_Site SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr12:89918896C>T c.e2+1 LUSC 12 89818973 89818973 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr12:89818973C>A c.1297G>T c.(1297-1299)Gag>Tag p.E433* LUSC 12 89861417 89861417 + Missense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:89861417C>A c.856G>T c.(856-858)Gca>Tca p.A286S OV 12 89864231 89864231 + Silent SNP C C T TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 g.chr12:89864231C>T c.717G>A c.(715-717)tcG>tcA p.S239S OV 12 89865474 89865474 + Missense_Mutation SNP C C G TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 g.chr12:89865474C>G c.593G>C c.(592-594)gGt>gCt p.G198A PAAD 12 89815013 89815013 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:89815013G>A c.1354C>T c.(1354-1356)Cga>Tga p.R452* PAAD 12 89885781 89885781 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:89885781T>C c.384A>G c.(382-384)gtA>gtG p.V128V PRAD 12 89885713 89885713 + Splice_Site SNP T T G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 g.chr12:89885713T>G c.452A>C c.(451-453)aAa>aCa p.K151T PRAD 12 89918908 89918908 + Missense_Mutation SNP C C T TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr12:89918908C>T c.89G>A c.(88-90)gGc>gAc p.G30D READ 12 89860596 89860596 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:89860596A>G c.983T>C c.(982-984)aTc>aCc p.I328T READ 12 89918951 89918951 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:89918951C>A c.46G>T c.(46-48)Ggc>Tgc p.G16C SARC 12 89818973 89818973 + Missense_Mutation SNP C C G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 g.chr12:89818973C>G c.1297G>C c.(1297-1299)Gag>Cag p.E433Q SARC 12 89819150 89819150 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 g.chr12:89819150C>T c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K SKCM 12 89853418 89853418 + Silent SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:89853418G>C c.1110C>G c.(1108-1110)acC>acG p.T370T SKCM 12 89885749 89885749 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:89885749G>A c.416C>T c.(415-417)tCc>tTc p.S139F

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 89917268 89917268 single base substitution C A intron_variant BRCA-EU 12 89808669 89808669 single base substitution T C downstream_gene_variant BRCA-EU 12 89809064 89809064 single base substitution C T downstream_gene_variant BRCA-EU 12 89809810 89809810 single base substitution T C downstream_gene_variant BRCA-EU 12 89810599 89810599 single base substitution C G downstream_gene_variant BRCA-EU 12 89810924 89810924 single base substitution G C downstream_gene_variant BRCA-EU 12 89811726 89811726 single base substitution A G downstream_gene_variant BRCA-EU 12 89812200 89812200 single base substitution C G downstream_gene_variant BRCA-EU 12 89812495 89812495 single base substitution T C downstream_gene_variant BRCA-EU 12 89812875 89812875 single base substitution G T downstream_gene_variant BRCA-EU 12 89818537 89818537 single base substitution C G downstream_gene_variant BRCA-EU 12 89818537 89818537 single base substitution C G intron_variant BRCA-EU 12 89818849 89818849 single base substitution G T downstream_gene_variant BRCA-EU 12 89818849 89818849 single base substitution G T intron_variant BRCA-EU 12 89821141 89821141 single base substitution C G exon_variant BRCA-EU 12 89821141 89821141 single base substitution C G intron_variant BRCA-EU 12 89821368 89821368 single base substitution C T exon_variant BRCA-EU 12 89821368 89821368 single base substitution C T intron_variant BRCA-EU 12 89821970 89821970 single base substitution T A exon_variant BRCA-EU 12 89821970 89821970 single base substitution T A intron_variant BRCA-EU 12 89822093 89822093 single base substitution C G exon_variant BRCA-EU 12 89822093 89822093 single base substitution C G intron_variant BRCA-EU 12 89822147 89822147 single base substitution C G exon_variant BRCA-EU 12 89822147 89822147 single base substitution C G intron_variant BRCA-EU 12 89823453 89823453 single base substitution C G intron_variant BRCA-EU 12 89823453 89823453 single base substitution C G upstream_gene_variant BRCA-EU 12 89823895 89823895 single base substitution C T intron_variant BRCA-EU 12 89823895 89823895 single base substitution C T upstream_gene_variant BRCA-EU 12 89824035 89824035 single base substitution G A intron_variant BRCA-EU 12 89824035 89824035 single base substitution G A upstream_gene_variant BRCA-EU 12 89824171 89824171 single base substitution T G intron_variant BRCA-EU 12 89824171 89824171 single base substitution T G upstream_gene_variant BRCA-EU 12 89825740 89825740 single base substitution C T intron_variant BRCA-EU 12 89825740 89825740 single base substitution C T upstream_gene_variant BRCA-EU 12 89826991 89826991 single base substitution A T intron_variant BRCA-EU 12 89826991 89826991 single base substitution A T upstream_gene_variant BRCA-EU 12 89829248 89829248 single base substitution G A intron_variant BRCA-EU 12 89829545 89829545 single base substitution A G intron_variant BRCA-EU 12 89829653 89829653 single base substitution C G intron_variant BRCA-EU 12 89829755 89829755 single base substitution C G intron_variant BRCA-EU 12 89830859 89830859 single base substitution G A intron_variant BRCA-EU 12 89831167 89831167 single base substitution C G intron_variant BRCA-EU 12 89831421 89831421 single base substitution T A intron_variant BRCA-EU 12 89833879 89833879 single base substitution A G intron_variant BRCA-EU 12 89833920 89833920 single base substitution C G intron_variant BRCA-EU 12 89834067 89834067 single base substitution A T intron_variant BRCA-EU 12 89834074 89834074 single base substitution C T intron_variant BRCA-EU 12 89835880 89835880 single base substitution T C intron_variant BRCA-EU 12 89838338 89838338 single base substitution C T intron_variant BRCA-EU 12 89841765 89841765 insertion of <=200bp - AG intron_variant BRCA-EU 12 89841765 89841766 deletion of <=200bp AG - intron_variant BRCA-EU 12 89843246 89843246 single base substitution G A intron_variant BRCA-EU 12 89843607 89843607 single base substitution C G intron_variant BRCA-EU 12 89844171 89844171 single base substitution G C intron_variant BRCA-EU 12 89844213 89844213 single base substitution G A intron_variant BRCA-EU 12 89844221 89844221 single base substitution G A intron_variant BRCA-EU 12 89845159 89845159 single base substitution C G intron_variant BRCA-EU 12 89845172 89845172 single base substitution C G intron_variant BRCA-EU 12 89845210 89845210 single base substitution C A intron_variant BRCA-EU 12 89846568 89846568 insertion of <=200bp - A intron_variant BRCA-EU 12 89847459 89847459 single base substitution A G intron_variant BRCA-EU 12 89848053 89848053 single base substitution C G intron_variant BRCA-EU 12 89852634 89852634 single base substitution A T downstream_gene_variant BRCA-EU 12 89852634 89852634 single base substitution A T intron_variant BRCA-EU 12 89853795 89853795 single base substitution C G downstream_gene_variant BRCA-EU 12 89853795 89853795 single base substitution C G intron_variant BRCA-EU 12 89853795 89853795 single base substitution C G missense_variant L221F 663G>C BRCA-EU 12 89853795 89853795 single base substitution C G splice_region_variant BRCA-EU 12 89854111 89854111 single base substitution A T downstream_gene_variant BRCA-EU 12 89854111 89854111 single base substitution A T intron_variant BRCA-EU 12 89854164 89854164 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 89854164 89854164 deletion of <=200bp A - intron_variant BRCA-EU 12 89855621 89855621 single base substitution C T downstream_gene_variant BRCA-EU 12 89855621 89855621 single base substitution C T intron_variant BRCA-EU 12 89855621 89855621 single base substitution C T upstream_gene_variant BRCA-EU 12 89856018 89856018 single base substitution C G downstream_gene_variant BRCA-EU 12 89856018 89856018 single base substitution C G intron_variant BRCA-EU 12 89856018 89856018 single base substitution C G upstream_gene_variant BRCA-EU 12 89857376 89857376 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 89857376 89857376 deletion of <=200bp A - intron_variant BRCA-EU 12 89857376 89857376 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 89857447 89857447 single base substitution A C downstream_gene_variant BRCA-EU 12 89857447 89857447 single base substitution A C intron_variant BRCA-EU 12 89857447 89857447 single base substitution A C upstream_gene_variant BRCA-EU 12 89857778 89857778 single base substitution C T downstream_gene_variant BRCA-EU 12 89857778 89857778 single base substitution C T intron_variant BRCA-EU 12 89857778 89857778 single base substitution C T upstream_gene_variant BRCA-EU 12 89857974 89857974 single base substitution T C downstream_gene_variant BRCA-EU 12 89857974 89857974 single base substitution T C intron_variant BRCA-EU 12 89857974 89857974 single base substitution T C upstream_gene_variant BRCA-EU 12 89860914 89860914 single base substitution A G intron_variant BRCA-EU 12 89862912 89862912 single base substitution G A intron_variant BRCA-EU 12 89863300 89863300 single base substitution G C intron_variant BRCA-EU 12 89863848 89863848 single base substitution C T intron_variant BRCA-EU 12 89864896 89864896 single base substitution C T intron_variant BRCA-EU 12 89864896 89864896 single base substitution C T upstream_gene_variant BRCA-EU 12 89865015 89865015 single base substitution T C intron_variant BRCA-EU 12 89865015 89865015 single base substitution T C upstream_gene_variant BRCA-EU 12 89865420 89865420 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 89865420 89865420 single base substitution C T exon_variant BRCA-EU 12 89865420 89865420 single base substitution C T intron_variant BRCA-EU 12 89865420 89865420 single base substitution C T missense_variant R174K 521G>A BRCA-EU 12 89865420 89865420 single base substitution C T missense_variant R216K 647G>A BRCA-EU 12 89865420 89865420 single base substitution C T missense_variant R86K 257G>A BRCA-EU 12 89865420 89865420 single base substitution C T upstream_gene_variant BRCA-EU 12 89865831 89865831 single base substitution C T intron_variant BRCA-EU 12 89865831 89865831 single base substitution C T upstream_gene_variant BRCA-EU 12 89869244 89869244 deletion of <=200bp T - intron_variant BRCA-EU 12 89869244 89869244 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 89869793 89869793 single base substitution C T intron_variant BRCA-EU 12 89869793 89869793 single base substitution C T upstream_gene_variant BRCA-EU 12 89871450 89871450 single base substitution C T intron_variant BRCA-EU 12 89871450 89871450 single base substitution C T upstream_gene_variant BRCA-EU 12 89874112 89874112 single base substitution C A downstream_gene_variant BRCA-EU 12 89874112 89874112 single base substitution C A intron_variant BRCA-EU 12 89874493 89874493 single base substitution T G downstream_gene_variant BRCA-EU 12 89874493 89874493 single base substitution T G intron_variant BRCA-EU 12 89875297 89875297 single base substitution C G downstream_gene_variant BRCA-EU 12 89875297 89875297 single base substitution C G intron_variant BRCA-EU 12 89875798 89875798 single base substitution C A downstream_gene_variant BRCA-EU 12 89875798 89875798 single base substitution C A intron_variant BRCA-EU 12 89876212 89876212 single base substitution A G downstream_gene_variant BRCA-EU 12 89876212 89876212 single base substitution A G intron_variant BRCA-EU 12 89877972 89877972 single base substitution C T downstream_gene_variant BRCA-EU 12 89877972 89877972 single base substitution C T intron_variant BRCA-EU 12 89878506 89878506 single base substitution C T downstream_gene_variant BRCA-EU 12 89878506 89878506 single base substitution C T intron_variant BRCA-EU 12 89879346 89879346 single base substitution G T intron_variant BRCA-EU 12 89879899 89879899 single base substitution C G intron_variant BRCA-EU 12 89880806 89880806 single base substitution T A intron_variant BRCA-EU 12 89881195 89881195 single base substitution C A downstream_gene_variant BRCA-EU 12 89881195 89881195 single base substitution C A intron_variant BRCA-EU 12 89881292 89881292 single base substitution C A downstream_gene_variant BRCA-EU 12 89881292 89881292 single base substitution C A intron_variant BRCA-EU 12 89882555 89882555 single base substitution C T downstream_gene_variant BRCA-EU 12 89882555 89882555 single base substitution C T intron_variant BRCA-EU 12 89882919 89882919 single base substitution C G downstream_gene_variant BRCA-EU 12 89882919 89882919 single base substitution C G intron_variant BRCA-EU 12 89883979 89883979 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 89883979 89883979 insertion of <=200bp - A intron_variant BRCA-EU 12 89884737 89884737 single base substitution T A downstream_gene_variant BRCA-EU 12 89884737 89884737 single base substitution T A intron_variant BRCA-EU 12 89884866 89884866 single base substitution G A downstream_gene_variant BRCA-EU 12 89884866 89884866 single base substitution G A intron_variant BRCA-EU 12 89885610 89885610 single base substitution T C downstream_gene_variant BRCA-EU 12 89885610 89885610 single base substitution T C intron_variant BRCA-EU 12 89886877 89886877 single base substitution T A intron_variant BRCA-EU 12 89887062 89887062 single base substitution C T intron_variant BRCA-EU 12 89887639 89887639 single base substitution G C intron_variant BRCA-EU 12 89888884 89888884 single base substitution A T intron_variant BRCA-EU 12 89889493 89889493 single base substitution G T intron_variant BRCA-EU 12 89889966 89889966 single base substitution C G intron_variant BRCA-EU 12 89890404 89890404 single base substitution T G intron_variant BRCA-EU 12 89892442 89892442 deletion of <=200bp A - intron_variant BRCA-EU 12 89892442 89892442 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 89892600 89892600 single base substitution C T intron_variant BRCA-EU 12 89892600 89892600 single base substitution C T upstream_gene_variant BRCA-EU 12 89895854 89895854 single base substitution C A intron_variant BRCA-EU 12 89895854 89895854 single base substitution C A upstream_gene_variant BRCA-EU 12 89897357 89897357 single base substitution G A intron_variant BRCA-EU 12 89898830 89898830 single base substitution G A intron_variant BRCA-EU 12 89899741 89899741 single base substitution G A intron_variant BRCA-EU 12 89899912 89899912 deletion of <=200bp G - intron_variant BRCA-EU 12 89900718 89900720 deletion of <=200bp TTC - intron_variant BRCA-EU 12 89901919 89901919 single base substitution T C intron_variant BRCA-EU 12 89902587 89902587 single base substitution C T intron_variant BRCA-EU 12 89903739 89903739 single base substitution C G intron_variant BRCA-EU 12 89904784 89904784 single base substitution G C intron_variant BRCA-EU 12 89905733 89905733 single base substitution A G intron_variant BRCA-EU 12 89906330 89906330 single base substitution G A intron_variant BRCA-EU 12 89906760 89906760 single base substitution C T intron_variant BRCA-EU 12 89907955 89907955 single base substitution G T intron_variant BRCA-EU 12 89908795 89908795 single base substitution A C intron_variant BRCA-EU 12 89909464 89909464 single base substitution G C intron_variant BRCA-EU 12 89911738 89911738 single base substitution C G intron_variant BRCA-EU 12 89912267 89912267 single base substitution T C intron_variant BRCA-EU 12 89914889 89914889 single base substitution T A intron_variant BRCA-EU 12 89914909 89914909 single base substitution C G intron_variant BRCA-EU 12 89915831 89915832 deletion of <=200bp AC - intron_variant BRCA-EU 12 89917068 89917068 single base substitution C G intron_variant BRCA-EU 12 89917566 89917566 single base substitution G A intron_variant BRCA-EU 12 89918020 89918020 single base substitution T C intron_variant BRCA-EU 12 89918258 89918258 single base substitution G C intron_variant BRCA-EU 12 89923434 89923434 single base substitution G C upstream_gene_variant BRCA-FR 12 89810599 89810599 single base substitution C G downstream_gene_variant BRCA-FR 12 89817060 89817060 single base substitution T C downstream_gene_variant BRCA-FR 12 89817060 89817060 single base substitution T C intron_variant BRCA-FR 12 89831167 89831167 single base substitution C G intron_variant BRCA-FR 12 89837293 89837293 single base substitution C A intron_variant BRCA-FR 12 89863848 89863848 single base substitution C T intron_variant BRCA-FR 12 89875297 89875297 single base substitution C G downstream_gene_variant BRCA-FR 12 89875297 89875297 single base substitution C G intron_variant BRCA-FR 12 89879899 89879899 single base substitution C G intron_variant BRCA-FR 12 89882555 89882555 single base substitution C T downstream_gene_variant BRCA-FR 12 89882555 89882555 single base substitution C T intron_variant BRCA-FR 12 89903739 89903739 single base substitution C G intron_variant BRCA-FR 12 89904720 89904720 single base substitution C T intron_variant BRCA-FR 12 89906330 89906330 single base substitution G A intron_variant BRCA-UK 12 89834067 89834067 single base substitution A T intron_variant BRCA-UK 12 89879681 89879681 single base substitution C T intron_variant BRCA-UK 12 89880806 89880806 single base substitution T A intron_variant BRCA-UK 12 89884866 89884866 single base substitution G A downstream_gene_variant BRCA-UK 12 89884866 89884866 single base substitution G A intron_variant BRCA-UK 12 89908170 89908170 single base substitution C A intron_variant BRCA-UK 12 89922098 89922098 single base substitution C T upstream_gene_variant BRCA-UK 12 89923356 89923356 single base substitution C T upstream_gene_variant BRCA-US 12 89818982 89818982 single base substitution C T 3_prime_UTR_variant BRCA-US 12 89818982 89818982 single base substitution C T downstream_gene_variant BRCA-US 12 89818982 89818982 single base substitution C T exon_variant BRCA-US 12 89818982 89818982 single base substitution C T missense_variant D300N 898G>A BRCA-US 12 89818982 89818982 single base substitution C T missense_variant D388N 1162G>A BRCA-US 12 89818982 89818982 single base substitution C T missense_variant D430N 1288G>A BRCA-US 12 89818991 89818991 single base substitution C A 3_prime_UTR_variant BRCA-US 12 89818991 89818991 single base substitution C A downstream_gene_variant BRCA-US 12 89818991 89818991 single base substitution C A exon_variant BRCA-US 12 89818991 89818991 single base substitution C A missense_variant A297S 889G>T BRCA-US 12 89818991 89818991 single base substitution C A missense_variant A385S 1153G>T BRCA-US 12 89818991 89818991 single base substitution C A missense_variant A427S 1279G>T BRCA-US 12 89818992 89818992 single base substitution G T 3_prime_UTR_variant BRCA-US 12 89818992 89818992 single base substitution G T downstream_gene_variant BRCA-US 12 89818992 89818992 single base substitution G T exon_variant BRCA-US 12 89818992 89818992 single base substitution G T synonymous_variant L296L 888C>A BRCA-US 12 89818992 89818992 single base substitution G T synonymous_variant L384L 1152C>A BRCA-US 12 89818992 89818992 single base substitution G T synonymous_variant L426L 1278C>A BRCA-US 12 89819118 89819118 single base substitution A C 3_prime_UTR_variant BRCA-US 12 89819118 89819118 single base substitution A C exon_variant BRCA-US 12 89819118 89819118 single base substitution A C synonymous_variant G254G 762T>G BRCA-US 12 89819118 89819118 single base substitution A C synonymous_variant G342G 1026T>G BRCA-US 12 89819118 89819118 single base substitution A C synonymous_variant G384G 1152T>G BRCA-US 12 89864264 89864264 single base substitution G A 3_prime_UTR_variant BRCA-US 12 89864264 89864264 single base substitution G A exon_variant BRCA-US 12 89864264 89864264 single base substitution G A intron_variant BRCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S186S 558C>T BRCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S228S 684C>T BRCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S98S 294C>T BRCA-US 12 89864264 89864264 single base substitution G A upstream_gene_variant BRCA-US 12 89864272 89864272 single base substitution C A intron_variant BRCA-US 12 89864272 89864272 single base substitution C A splice_acceptor_variant BRCA-US 12 89864272 89864272 single base substitution C A upstream_gene_variant BRCA-US 12 89864273 89864273 single base substitution T G intron_variant BRCA-US 12 89864273 89864273 single base substitution T G splice_acceptor_variant BRCA-US 12 89864273 89864273 single base substitution T G upstream_gene_variant BRCA-US 12 89917263 89917263 single base substitution T G intron_variant BTCA-JP 12 89865458 89865458 single base substitution T A 3_prime_UTR_variant BTCA-JP 12 89865458 89865458 single base substitution T A exon_variant BTCA-JP 12 89865458 89865458 single base substitution T A intron_variant BTCA-JP 12 89865458 89865458 single base substitution T A synonymous_variant S161S 483A>T BTCA-JP 12 89865458 89865458 single base substitution T A synonymous_variant S203S 609A>T BTCA-JP 12 89865458 89865458 single base substitution T A synonymous_variant S73S 219A>T BTCA-JP 12 89865458 89865458 single base substitution T A upstream_gene_variant BTCA-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - intron_variant BTCA-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - splice_region_variant BTCA-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - upstream_gene_variant CESC-US 12 89815013 89815013 single base substitution G T 3_prime_UTR_variant CESC-US 12 89815013 89815013 single base substitution G T downstream_gene_variant CESC-US 12 89815013 89815013 single base substitution G T exon_variant CESC-US 12 89815013 89815013 single base substitution G T synonymous_variant R322R 964C>A CESC-US 12 89815013 89815013 single base substitution G T synonymous_variant R410R 1228C>A CESC-US 12 89815013 89815013 single base substitution G T synonymous_variant R452R 1354C>A CESC-US 12 89860565 89860565 single base substitution T C 3_prime_UTR_variant CESC-US 12 89860565 89860565 single base substitution T C exon_variant CESC-US 12 89860565 89860565 single base substitution T C missense_variant K125R 374A>G CESC-US 12 89860565 89860565 single base substitution T C missense_variant K89R 266A>G CESC-US 12 89860565 89860565 single base substitution T C synonymous_variant E208E 624A>G CESC-US 12 89860565 89860565 single base substitution T C synonymous_variant E296E 888A>G CESC-US 12 89860565 89860565 single base substitution T C synonymous_variant E338E 1014A>G CESC-US 12 89860565 89860565 single base substitution T C upstream_gene_variant CESC-US 12 89890968 89890968 single base substitution C T 5_prime_UTR_variant CESC-US 12 89890968 89890968 single base substitution C T exon_variant CESC-US 12 89890968 89890968 single base substitution C T intron_variant CESC-US 12 89890968 89890968 single base substitution C T synonymous_variant V42V 126G>A CESC-US 12 89890968 89890968 single base substitution C T synonymous_variant V84V 252G>A CESC-US 12 89917392 89917392 single base substitution C T intron_variant CESC-US 12 89917415 89917415 single base substitution G C intron_variant CLLE-ES 12 89855479 89855479 single base substitution T C downstream_gene_variant CLLE-ES 12 89855479 89855479 single base substitution T C exon_variant CLLE-ES 12 89855479 89855479 single base substitution T C intron_variant CLLE-ES 12 89861573 89861573 single base substitution A G intron_variant CLLE-ES 12 89864251 89864251 single base substitution A C 3_prime_UTR_variant CLLE-ES 12 89864251 89864251 single base substitution A C exon_variant CLLE-ES 12 89864251 89864251 single base substitution A C intron_variant CLLE-ES 12 89864251 89864251 single base substitution A C missense_variant C103G 307T>G CLLE-ES 12 89864251 89864251 single base substitution A C missense_variant C191G 571T>G CLLE-ES 12 89864251 89864251 single base substitution A C missense_variant C233G 697T>G CLLE-ES 12 89864251 89864251 single base substitution A C upstream_gene_variant CLLE-ES 12 89872428 89872428 single base substitution G A intron_variant CLLE-ES 12 89888575 89888575 single base substitution C T intron_variant CLLE-ES 12 89893910 89893910 single base substitution G T intron_variant CLLE-ES 12 89893910 89893910 single base substitution G T upstream_gene_variant CLLE-ES 12 89904963 89904963 single base substitution G A intron_variant COAD-US 12 89818992 89818992 single base substitution G A 3_prime_UTR_variant COAD-US 12 89818992 89818992 single base substitution G A downstream_gene_variant COAD-US 12 89818992 89818992 single base substitution G A exon_variant COAD-US 12 89818992 89818992 single base substitution G A synonymous_variant L296L 888C>T COAD-US 12 89818992 89818992 single base substitution G A synonymous_variant L384L 1152C>T COAD-US 12 89818992 89818992 single base substitution G A synonymous_variant L426L 1278C>T COAD-US 12 89860564 89860564 single base substitution T C 3_prime_UTR_variant COAD-US 12 89860564 89860564 single base substitution T C exon_variant COAD-US 12 89860564 89860564 single base substitution T C missense_variant K209E 625A>G COAD-US 12 89860564 89860564 single base substitution T C missense_variant K297E 889A>G COAD-US 12 89860564 89860564 single base substitution T C missense_variant K339E 1015A>G COAD-US 12 89860564 89860564 single base substitution T C synonymous_variant K125K 375A>G COAD-US 12 89860564 89860564 single base substitution T C synonymous_variant K89K 267A>G COAD-US 12 89860564 89860564 single base substitution T C upstream_gene_variant COAD-US 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - intron_variant COAD-US 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - splice_region_variant COAD-US 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - upstream_gene_variant COAD-US 12 89916811 89916811 single base substitution C T intron_variant COAD-US 12 89917212 89917212 single base substitution C T intron_variant COAD-US 12 89917529 89917529 single base substitution G T intron_variant COAD-US 12 89917754 89917754 single base substitution G A intron_variant COAD-US 12 89918116 89918116 single base substitution A C intron_variant COCA-CN 12 89864432 89864432 single base substitution T A intron_variant COCA-CN 12 89864432 89864432 single base substitution T A upstream_gene_variant COCA-CN 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - intron_variant COCA-CN 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - splice_region_variant COCA-CN 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - upstream_gene_variant COCA-CN 12 89870532 89870532 single base substitution T C intron_variant COCA-CN 12 89870532 89870532 single base substitution T C upstream_gene_variant COCA-CN 12 89870536 89870536 single base substitution T C intron_variant COCA-CN 12 89870536 89870536 single base substitution T C upstream_gene_variant COCA-CN 12 89879260 89879260 single base substitution T C intron_variant COCA-CN 12 89885849 89885849 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 89885849 89885849 single base substitution G A downstream_gene_variant COCA-CN 12 89885849 89885849 single base substitution G A exon_variant COCA-CN 12 89885849 89885849 single base substitution G A stop_gained R106* 316C>T COCA-CN 12 89885849 89885849 single base substitution G A stop_gained R64* 190C>T COCA-CN 12 89890031 89890031 single base substitution G A intron_variant COCA-CN 12 89893877 89893877 single base substitution T C intron_variant COCA-CN 12 89893877 89893877 single base substitution T C upstream_gene_variant COCA-CN 12 89893906 89893906 single base substitution T C intron_variant COCA-CN 12 89893906 89893906 single base substitution T C upstream_gene_variant COCA-CN 12 89894793 89894793 single base substitution T G intron_variant COCA-CN 12 89894793 89894793 single base substitution T G upstream_gene_variant COCA-CN 12 89895837 89895837 single base substitution C T intron_variant COCA-CN 12 89895837 89895837 single base substitution C T upstream_gene_variant COCA-CN 12 89917898 89917898 single base substitution G T intron_variant COCA-CN 12 89918216 89918219 deletion of <=200bp TCCT - intron_variant EOPC-DE 12 89879493 89879493 single base substitution C T intron_variant ESAD-UK 12 89810659 89810659 single base substitution G T downstream_gene_variant ESAD-UK 12 89813896 89813896 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 89813896 89813896 single base substitution C T downstream_gene_variant ESAD-UK 12 89813896 89813896 single base substitution C T exon_variant ESAD-UK 12 89814365 89814365 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 89814365 89814365 single base substitution G A downstream_gene_variant ESAD-UK 12 89814365 89814365 single base substitution G A exon_variant ESAD-UK 12 89818730 89818730 insertion of <=200bp - GT downstream_gene_variant ESAD-UK 12 89818730 89818730 insertion of <=200bp - GT intron_variant ESAD-UK 12 89821155 89821155 single base substitution A G exon_variant ESAD-UK 12 89821155 89821155 single base substitution A G intron_variant ESAD-UK 12 89826567 89826567 single base substitution T C intron_variant ESAD-UK 12 89826567 89826567 single base substitution T C upstream_gene_variant ESAD-UK 12 89827427 89827427 insertion of <=200bp - G intron_variant ESAD-UK 12 89827427 89827427 insertion of <=200bp - G upstream_gene_variant ESAD-UK 12 89827895 89827895 single base substitution G A intron_variant ESAD-UK 12 89827895 89827895 single base substitution G A upstream_gene_variant ESAD-UK 12 89828704 89828704 single base substitution G C intron_variant ESAD-UK 12 89829175 89829175 single base substitution C A intron_variant ESAD-UK 12 89829480 89829480 deletion of <=200bp T - intron_variant ESAD-UK 12 89834687 89834687 single base substitution C T intron_variant ESAD-UK 12 89839499 89839499 single base substitution A G intron_variant ESAD-UK 12 89844693 89844693 single base substitution T C intron_variant ESAD-UK 12 89846244 89846244 single base substitution C T intron_variant ESAD-UK 12 89846662 89846662 single base substitution T A intron_variant ESAD-UK 12 89847872 89847872 single base substitution C T intron_variant ESAD-UK 12 89848511 89848511 single base substitution C G downstream_gene_variant ESAD-UK 12 89848511 89848511 single base substitution C G intron_variant ESAD-UK 12 89848994 89848994 single base substitution C G downstream_gene_variant ESAD-UK 12 89848994 89848994 single base substitution C G intron_variant ESAD-UK 12 89850429 89850429 insertion of <=200bp - TTTTTAACAATAA downstream_gene_variant ESAD-UK 12 89850429 89850429 insertion of <=200bp - TTTTTAACAATAA intron_variant ESAD-UK 12 89854152 89854152 single base substitution C T downstream_gene_variant ESAD-UK 12 89854152 89854152 single base substitution C T intron_variant ESAD-UK 12 89857376 89857376 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 89857376 89857376 deletion of <=200bp A - intron_variant ESAD-UK 12 89857376 89857376 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 89860191 89860221 deletion of <=200bp TAACCATTATAAAAATTCTTGCCCTCCAGCC - downstream_gene_variant ESAD-UK 12 89860191 89860221 deletion of <=200bp TAACCATTATAAAAATTCTTGCCCTCCAGCC - intron_variant ESAD-UK 12 89860191 89860221 deletion of <=200bp TAACCATTATAAAAATTCTTGCCCTCCAGCC - upstream_gene_variant ESAD-UK 12 89865458 89865458 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 89865458 89865458 single base substitution T A exon_variant ESAD-UK 12 89865458 89865458 single base substitution T A intron_variant ESAD-UK 12 89865458 89865458 single base substitution T A synonymous_variant S161S 483A>T ESAD-UK 12 89865458 89865458 single base substitution T A synonymous_variant S203S 609A>T ESAD-UK 12 89865458 89865458 single base substitution T A synonymous_variant S73S 219A>T ESAD-UK 12 89865458 89865458 single base substitution T A upstream_gene_variant ESAD-UK 12 89871078 89871078 single base substitution T C intron_variant ESAD-UK 12 89871078 89871078 single base substitution T C upstream_gene_variant ESAD-UK 12 89872604 89872604 single base substitution C A intron_variant ESAD-UK 12 89877057 89877057 single base substitution C T downstream_gene_variant ESAD-UK 12 89877057 89877057 single base substitution C T intron_variant ESAD-UK 12 89877985 89877985 single base substitution G C downstream_gene_variant ESAD-UK 12 89877985 89877985 single base substitution G C intron_variant ESAD-UK 12 89880937 89880937 single base substitution A T downstream_gene_variant ESAD-UK 12 89880937 89880937 single base substitution A T intron_variant ESAD-UK 12 89889167 89889167 single base substitution T C intron_variant ESAD-UK 12 89890804 89890804 single base substitution G C intron_variant ESAD-UK 12 89891218 89891218 single base substitution G A intron_variant ESAD-UK 12 89891218 89891218 single base substitution G A upstream_gene_variant ESAD-UK 12 89892176 89892176 single base substitution C T intron_variant ESAD-UK 12 89892176 89892176 single base substitution C T upstream_gene_variant ESAD-UK 12 89894652 89894652 single base substitution C G intron_variant ESAD-UK 12 89894652 89894652 single base substitution C G upstream_gene_variant ESAD-UK 12 89895091 89895091 single base substitution C T intron_variant ESAD-UK 12 89895091 89895091 single base substitution C T upstream_gene_variant ESAD-UK 12 89898379 89898379 single base substitution A T intron_variant ESAD-UK 12 89901451 89901451 single base substitution T A intron_variant ESAD-UK 12 89901481 89901481 single base substitution A G intron_variant ESAD-UK 12 89902433 89902433 single base substitution G A intron_variant ESAD-UK 12 89902733 89902733 single base substitution C T intron_variant ESAD-UK 12 89903206 89903206 single base substitution C T intron_variant ESAD-UK 12 89903484 89903484 single base substitution T G intron_variant ESAD-UK 12 89905590 89905590 single base substitution G C intron_variant ESAD-UK 12 89907821 89907821 single base substitution G C intron_variant ESAD-UK 12 89909609 89909609 insertion of <=200bp - AT intron_variant ESAD-UK 12 89911668 89911668 single base substitution G A intron_variant ESAD-UK 12 89911898 89911898 single base substitution G T intron_variant ESAD-UK 12 89912965 89912965 single base substitution T C intron_variant ESAD-UK 12 89914683 89914683 single base substitution A T intron_variant ESAD-UK 12 89915586 89915586 deletion of <=200bp T - intron_variant ESAD-UK 12 89919388 89919388 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 89919388 89919388 single base substitution C A intron_variant ESAD-UK 12 89919388 89919388 single base substitution C A upstream_gene_variant ESAD-UK 12 89920475 89920475 single base substitution C A upstream_gene_variant ESAD-UK 12 89923721 89923721 single base substitution C T upstream_gene_variant ESAD-UK 12 89923920 89923920 single base substitution C T upstream_gene_variant ESAD-UK 12 89924687 89924687 single base substitution T C upstream_gene_variant ESCA-CN 12 89896888 89896888 single base substitution C A intron_variant GBM-US 12 89864247 89864247 single base substitution A G 3_prime_UTR_variant GBM-US 12 89864247 89864247 single base substitution A G exon_variant GBM-US 12 89864247 89864247 single base substitution A G intron_variant GBM-US 12 89864247 89864247 single base substitution A G missense_variant I104T 311T>C GBM-US 12 89864247 89864247 single base substitution A G missense_variant I192T 575T>C GBM-US 12 89864247 89864247 single base substitution A G missense_variant I234T 701T>C GBM-US 12 89864247 89864247 single base substitution A G upstream_gene_variant GBM-US 12 89917757 89917757 single base substitution G T intron_variant KIRC-US 12 89865497 89865497 insertion of <=200bp - T 3_prime_UTR_variant KIRC-US 12 89865497 89865497 insertion of <=200bp - T exon_variant KIRC-US 12 89865497 89865497 insertion of <=200bp - T frameshift_variant N148N? KIRC-US 12 89865497 89865497 insertion of <=200bp - T frameshift_variant N190N? KIRC-US 12 89865497 89865497 insertion of <=200bp - T frameshift_variant N60N? KIRC-US 12 89865497 89865497 insertion of <=200bp - T intron_variant KIRC-US 12 89865497 89865497 insertion of <=200bp - T upstream_gene_variant KIRC-US 12 89885726 89885726 deletion of <=200bp C - 3_prime_UTR_variant KIRC-US 12 89885726 89885726 deletion of <=200bp C - downstream_gene_variant KIRC-US 12 89885726 89885726 deletion of <=200bp C - exon_variant KIRC-US 12 89885726 89885726 deletion of <=200bp C - frameshift_variant V105 KIRC-US 12 89885726 89885726 deletion of <=200bp C - frameshift_variant V147 KIRC-US 12 89885726 89885726 deletion of <=200bp C - frameshift_variant V17 KIRC-US 12 89885862 89885862 single base substitution A G 3_prime_UTR_variant KIRC-US 12 89885862 89885862 single base substitution A G 5_prime_UTR_variant KIRC-US 12 89885862 89885862 single base substitution A G exon_variant KIRC-US 12 89885862 89885862 single base substitution A G synonymous_variant H101H 303T>C KIRC-US 12 89885862 89885862 single base substitution A G synonymous_variant H59H 177T>C KIRC-US 12 89917147 89917147 single base substitution A T intron_variant KIRC-US 12 89917616 89917616 single base substitution C T intron_variant KIRP-US 12 89918277 89918277 single base substitution A C intron_variant LAML-KR 12 89837374 89837374 single base substitution C T intron_variant LAML-KR 12 89873932 89873932 single base substitution G T intron_variant LAML-KR 12 89895461 89895461 single base substitution G A intron_variant LAML-KR 12 89895461 89895461 single base substitution G A upstream_gene_variant LAML-KR 12 89897527 89897527 single base substitution C A intron_variant LGG-US 12 89916851 89916854 deletion of <=200bp TTTG - intron_variant LIAD-FR 12 89860568 89860568 single base substitution C T 3_prime_UTR_variant LIAD-FR 12 89860568 89860568 single base substitution C T exon_variant LIAD-FR 12 89860568 89860568 single base substitution C T missense_variant R124K 371G>A LIAD-FR 12 89860568 89860568 single base substitution C T missense_variant R88K 263G>A LIAD-FR 12 89860568 89860568 single base substitution C T synonymous_variant E207E 621G>A LIAD-FR 12 89860568 89860568 single base substitution C T synonymous_variant E295E 885G>A LIAD-FR 12 89860568 89860568 single base substitution C T synonymous_variant E337E 1011G>A LIAD-FR 12 89860568 89860568 single base substitution C T upstream_gene_variant LICA-FR 12 89837506 89837506 single base substitution C T intron_variant LICA-FR 12 89837555 89837555 single base substitution A C intron_variant LICA-FR 12 89847451 89847451 single base substitution T C intron_variant LICA-FR 12 89853185 89853185 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 89853185 89853185 deletion of <=200bp A - intron_variant LICA-FR 12 89876246 89876246 single base substitution T C downstream_gene_variant LICA-FR 12 89876246 89876246 single base substitution T C intron_variant LICA-FR 12 89896680 89896700 deletion of <=200bp TGAGGAAAGTGTTCTTCTTTT - intron_variant LICA-FR 12 89917098 89917098 single base substitution G A intron_variant LICA-FR 12 89917624 89917624 single base substitution C T intron_variant LICA-FR 12 89918215 89918215 single base substitution C T intron_variant LICA-FR 12 89922801 89922801 single base substitution A C upstream_gene_variant LIHC-US 12 89891089 89891089 single base substitution A G exon_variant LIHC-US 12 89891089 89891089 single base substitution A G intron_variant LIHC-US 12 89891089 89891089 single base substitution A G missense_variant L2P 5T>C LIHC-US 12 89891089 89891089 single base substitution A G missense_variant L44P 131T>C LIHC-US 12 89891089 89891089 single base substitution A G upstream_gene_variant LIHC-US 12 89916794 89916794 single base substitution A C intron_variant LIHC-US 12 89917584 89917584 single base substitution T C intron_variant LINC-JP 12 89821658 89821658 single base substitution T C exon_variant LINC-JP 12 89821658 89821658 single base substitution T C intron_variant LINC-JP 12 89826210 89826210 single base substitution G T intron_variant LINC-JP 12 89826210 89826210 single base substitution G T upstream_gene_variant LINC-JP 12 89860626 89860626 single base substitution T C 3_prime_UTR_variant LINC-JP 12 89860626 89860626 single base substitution T C exon_variant LINC-JP 12 89860626 89860626 single base substitution T C missense_variant H188R 563A>G LINC-JP 12 89860626 89860626 single base substitution T C missense_variant H276R 827A>G LINC-JP 12 89860626 89860626 single base substitution T C missense_variant H318R 953A>G LINC-JP 12 89860626 89860626 single base substitution T C missense_variant I105V 313A>G LINC-JP 12 89860626 89860626 single base substitution T C missense_variant I69V 205A>G LINC-JP 12 89863688 89863688 single base substitution G A intron_variant LINC-JP 12 89865545 89865545 single base substitution C T intron_variant LINC-JP 12 89865545 89865545 single base substitution C T upstream_gene_variant LINC-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - intron_variant LINC-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - splice_region_variant LINC-JP 12 89866055 89866064 deletion of <=200bp AGAAAGAAGA - upstream_gene_variant LINC-JP 12 89878652 89878652 single base substitution T G downstream_gene_variant LINC-JP 12 89878652 89878652 single base substitution T G intron_variant LINC-JP 12 89878761 89878761 single base substitution C T downstream_gene_variant LINC-JP 12 89878761 89878761 single base substitution C T intron_variant LINC-JP 12 89899694 89899694 single base substitution T C intron_variant LINC-JP 12 89901043 89901043 single base substitution C A intron_variant LINC-JP 12 89908179 89908179 single base substitution C T intron_variant LINC-JP 12 89916584 89916584 single base substitution T C intron_variant LINC-JP 12 89917716 89917716 single base substitution C T intron_variant LINC-JP 12 89924235 89924235 single base substitution A G upstream_gene_variant LIRI-JP 12 89809133 89809135 deletion of <=200bp AAT - downstream_gene_variant LIRI-JP 12 89809262 89809262 single base substitution T C downstream_gene_variant LIRI-JP 12 89811458 89811458 single base substitution A G downstream_gene_variant LIRI-JP 12 89813371 89813371 single base substitution G A downstream_gene_variant LIRI-JP 12 89814179 89814179 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 89814179 89814179 single base substitution A G downstream_gene_variant LIRI-JP 12 89814179 89814179 single base substitution A G exon_variant LIRI-JP 12 89815339 89815339 single base substitution G C downstream_gene_variant LIRI-JP 12 89815339 89815339 single base substitution G C intron_variant LIRI-JP 12 89815414 89815414 single base substitution C T downstream_gene_variant LIRI-JP 12 89815414 89815414 single base substitution C T intron_variant LIRI-JP 12 89819110 89819110 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 89819110 89819110 single base substitution G A exon_variant LIRI-JP 12 89819110 89819110 single base substitution G A missense_variant A257V 770C>T LIRI-JP 12 89819110 89819110 single base substitution G A missense_variant A345V 1034C>T LIRI-JP 12 89819110 89819110 single base substitution G A missense_variant A387V 1160C>T LIRI-JP 12 89820709 89820709 single base substitution T A exon_variant LIRI-JP 12 89820709 89820709 single base substitution T A intron_variant LIRI-JP 12 89820779 89820779 single base substitution C A exon_variant LIRI-JP 12 89820779 89820779 single base substitution C A intron_variant LIRI-JP 12 89821702 89821702 single base substitution T G exon_variant LIRI-JP 12 89821702 89821702 single base substitution T G intron_variant LIRI-JP 12 89822781 89822781 single base substitution A G exon_variant LIRI-JP 12 89822781 89822781 single base substitution A G intron_variant LIRI-JP 12 89826155 89826155 single base substitution T A intron_variant LIRI-JP 12 89826155 89826155 single base substitution T A upstream_gene_variant LIRI-JP 12 89827390 89827390 single base substitution G A intron_variant LIRI-JP 12 89827390 89827390 single base substitution G A upstream_gene_variant LIRI-JP 12 89827529 89827529 single base substitution A C intron_variant LIRI-JP 12 89827529 89827529 single base substitution A C upstream_gene_variant LIRI-JP 12 89831663 89831663 single base substitution A C intron_variant LIRI-JP 12 89835817 89835817 single base substitution C T intron_variant LIRI-JP 12 89836923 89836923 single base substitution T C intron_variant LIRI-JP 12 89837827 89837827 single base substitution C G intron_variant LIRI-JP 12 89840116 89840116 single base substitution A C intron_variant LIRI-JP 12 89841446 89841446 single base substitution A G intron_variant LIRI-JP 12 89851569 89851569 single base substitution T C downstream_gene_variant LIRI-JP 12 89851569 89851569 single base substitution T C intron_variant LIRI-JP 12 89861612 89861612 single base substitution C T intron_variant LIRI-JP 12 89862684 89862684 single base substitution A G intron_variant LIRI-JP 12 89864562 89864562 single base substitution C A intron_variant LIRI-JP 12 89864562 89864562 single base substitution C A upstream_gene_variant LIRI-JP 12 89865761 89865761 single base substitution T C intron_variant LIRI-JP 12 89865761 89865761 single base substitution T C upstream_gene_variant LIRI-JP 12 89865959 89865959 single base substitution G C 3_prime_UTR_variant LIRI-JP 12 89865959 89865959 single base substitution G C exon_variant LIRI-JP 12 89865959 89865959 single base substitution G C intron_variant LIRI-JP 12 89865959 89865959 single base substitution G C missense_variant F140L 420C>G LIRI-JP 12 89865959 89865959 single base substitution G C missense_variant F182L 546C>G LIRI-JP 12 89865959 89865959 single base substitution G C missense_variant F52L 156C>G LIRI-JP 12 89865959 89865959 single base substitution G C upstream_gene_variant LIRI-JP 12 89866525 89866525 single base substitution C T intron_variant LIRI-JP 12 89866525 89866525 single base substitution C T upstream_gene_variant LIRI-JP 12 89868731 89868731 single base substitution T C intron_variant LIRI-JP 12 89868731 89868731 single base substitution T C upstream_gene_variant LIRI-JP 12 89871154 89871154 single base substitution G A intron_variant LIRI-JP 12 89871154 89871154 single base substitution G A upstream_gene_variant LIRI-JP 12 89871903 89871903 single base substitution T G intron_variant LIRI-JP 12 89879018 89879018 single base substitution A C downstream_gene_variant LIRI-JP 12 89879018 89879018 single base substitution A C intron_variant LIRI-JP 12 89880162 89880162 single base substitution G T intron_variant LIRI-JP 12 89886341 89886341 single base substitution G A intron_variant LIRI-JP 12 89886428 89886428 single base substitution C T intron_variant LIRI-JP 12 89892365 89892365 single base substitution T G intron_variant LIRI-JP 12 89892365 89892365 single base substitution T G upstream_gene_variant LIRI-JP 12 89892546 89892546 single base substitution A T intron_variant LIRI-JP 12 89892546 89892546 single base substitution A T upstream_gene_variant LIRI-JP 12 89895338 89895338 single base substitution T C intron_variant LIRI-JP 12 89895338 89895338 single base substitution T C upstream_gene_variant LIRI-JP 12 89895488 89895488 single base substitution G T intron_variant LIRI-JP 12 89895488 89895488 single base substitution G T upstream_gene_variant LIRI-JP 12 89898936 89898936 single base substitution T C intron_variant LIRI-JP 12 89902786 89902786 single base substitution A G intron_variant LIRI-JP 12 89907222 89907222 single base substitution G T intron_variant LIRI-JP 12 89909498 89909498 single base substitution C A intron_variant LIRI-JP 12 89913360 89913360 single base substitution T C intron_variant LIRI-JP 12 89914979 89914979 single base substitution C T intron_variant LIRI-JP 12 89915427 89915427 single base substitution A C intron_variant LIRI-JP 12 89915530 89915530 single base substitution T G intron_variant LIRI-JP 12 89916056 89916056 deletion of <=200bp T - intron_variant LIRI-JP 12 89916497 89916497 single base substitution T C intron_variant LIRI-JP 12 89917166 89917166 single base substitution C T intron_variant LIRI-JP 12 89921157 89921157 single base substitution G T upstream_gene_variant LIRI-JP 12 89921727 89921727 single base substitution G A upstream_gene_variant LIRI-JP 12 89922209 89922209 single base substitution G T upstream_gene_variant LIRI-JP 12 89922377 89922377 single base substitution T C upstream_gene_variant LIRI-JP 12 89923946 89923946 single base substitution T A upstream_gene_variant LUSC-KR 12 89809889 89809889 single base substitution C T downstream_gene_variant LUSC-KR 12 89809935 89809935 single base substitution T G downstream_gene_variant LUSC-KR 12 89813494 89813494 single base substitution C T downstream_gene_variant LUSC-KR 12 89814455 89814455 single base substitution G C 3_prime_UTR_variant LUSC-KR 12 89814455 89814455 single base substitution G C downstream_gene_variant LUSC-KR 12 89814455 89814455 single base substitution G C exon_variant LUSC-KR 12 89815218 89815218 single base substitution C A downstream_gene_variant LUSC-KR 12 89815218 89815218 single base substitution C A intron_variant LUSC-KR 12 89815263 89815263 single base substitution T A downstream_gene_variant LUSC-KR 12 89815263 89815263 single base substitution T A intron_variant LUSC-KR 12 89820760 89820760 single base substitution T C exon_variant LUSC-KR 12 89820760 89820760 single base substitution T C intron_variant LUSC-KR 12 89824108 89824108 single base substitution T C intron_variant LUSC-KR 12 89824108 89824108 single base substitution T C upstream_gene_variant LUSC-KR 12 89831895 89831895 single base substitution T C intron_variant LUSC-KR 12 89835620 89835620 single base substitution C A intron_variant LUSC-KR 12 89836128 89836128 single base substitution G A intron_variant LUSC-KR 12 89837329 89837329 single base substitution C G intron_variant LUSC-KR 12 89839721 89839721 single base substitution G T intron_variant LUSC-KR 12 89847979 89847979 single base substitution C T intron_variant LUSC-KR 12 89851345 89851345 single base substitution C T downstream_gene_variant LUSC-KR 12 89851345 89851345 single base substitution C T intron_variant LUSC-KR 12 89852235 89852235 single base substitution C A downstream_gene_variant LUSC-KR 12 89852235 89852235 single base substitution C A intron_variant LUSC-KR 12 89855514 89855514 single base substitution C T downstream_gene_variant LUSC-KR 12 89855514 89855514 single base substitution C T exon_variant LUSC-KR 12 89855514 89855514 single base substitution C T intron_variant LUSC-KR 12 89856328 89856328 single base substitution T G downstream_gene_variant LUSC-KR 12 89856328 89856328 single base substitution T G intron_variant LUSC-KR 12 89856328 89856328 single base substitution T G upstream_gene_variant LUSC-KR 12 89857401 89857401 single base substitution C A downstream_gene_variant LUSC-KR 12 89857401 89857401 single base substitution C A intron_variant LUSC-KR 12 89857401 89857401 single base substitution C A upstream_gene_variant LUSC-KR 12 89862711 89862711 single base substitution T A intron_variant LUSC-KR 12 89875332 89875332 single base substitution C G downstream_gene_variant LUSC-KR 12 89875332 89875332 single base substitution C G intron_variant LUSC-KR 12 89875950 89875950 single base substitution C A downstream_gene_variant LUSC-KR 12 89875950 89875950 single base substitution C A intron_variant LUSC-KR 12 89880087 89880087 single base substitution A C intron_variant LUSC-KR 12 89883619 89883619 single base substitution T G downstream_gene_variant LUSC-KR 12 89883619 89883619 single base substitution T G intron_variant LUSC-KR 12 89887589 89887589 single base substitution C T intron_variant LUSC-KR 12 89888947 89888947 single base substitution T A intron_variant LUSC-KR 12 89894417 89894417 single base substitution C A intron_variant LUSC-KR 12 89894417 89894417 single base substitution C A upstream_gene_variant LUSC-KR 12 89894417 89894417 single base substitution C G intron_variant LUSC-KR 12 89894417 89894417 single base substitution C G upstream_gene_variant LUSC-KR 12 89894748 89894748 single base substitution C A intron_variant LUSC-KR 12 89894748 89894748 single base substitution C A upstream_gene_variant LUSC-KR 12 89896109 89896109 single base substitution G T intron_variant LUSC-KR 12 89897527 89897527 single base substitution C A intron_variant LUSC-KR 12 89897550 89897550 single base substitution A G intron_variant LUSC-KR 12 89897617 89897617 single base substitution C T intron_variant LUSC-KR 12 89897630 89897630 single base substitution G A intron_variant LUSC-KR 12 89904499 89904499 single base substitution C A intron_variant LUSC-KR 12 89915351 89915351 single base substitution C T intron_variant LUSC-KR 12 89919036 89919036 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 89919036 89919036 single base substitution G T exon_variant LUSC-KR 12 89919036 89919036 single base substitution G T intron_variant LUSC-KR 12 89919036 89919036 single base substitution G T upstream_gene_variant LUSC-US 12 89818973 89818973 single base substitution C A 3_prime_UTR_variant LUSC-US 12 89818973 89818973 single base substitution C A downstream_gene_variant LUSC-US 12 89818973 89818973 single base substitution C A exon_variant LUSC-US 12 89818973 89818973 single base substitution C A stop_gained E303* 907G>T LUSC-US 12 89818973 89818973 single base substitution C A stop_gained E391* 1171G>T LUSC-US 12 89818973 89818973 single base substitution C A stop_gained E433* 1297G>T LUSC-US 12 89861417 89861417 single base substitution C A 3_prime_UTR_variant LUSC-US 12 89861417 89861417 single base substitution C A exon_variant LUSC-US 12 89861417 89861417 single base substitution C A intron_variant LUSC-US 12 89861417 89861417 single base substitution C A missense_variant A156S 466G>T LUSC-US 12 89861417 89861417 single base substitution C A missense_variant A244S 730G>T LUSC-US 12 89861417 89861417 single base substitution C A missense_variant A286S 856G>T LUSC-US 12 89861417 89861417 single base substitution C A missense_variant L36F 108G>T LUSC-US 12 89861417 89861417 single base substitution C A missense_variant L72F 216G>T MALY-DE 12 89813567 89813570 deletion of <=200bp CTTA - 3_prime_UTR_variant MALY-DE 12 89813567 89813570 deletion of <=200bp CTTA - downstream_gene_variant MALY-DE 12 89813567 89813570 deletion of <=200bp CTTA - exon_variant MALY-DE 12 89831487 89831487 single base substitution A G intron_variant MALY-DE 12 89834495 89834495 single base substitution C T intron_variant MALY-DE 12 89841765 89841766 deletion of <=200bp AG - intron_variant MALY-DE 12 89850180 89850180 single base substitution G A downstream_gene_variant MALY-DE 12 89850180 89850180 single base substitution G A intron_variant MALY-DE 12 89850494 89850494 single base substitution C G downstream_gene_variant MALY-DE 12 89850494 89850494 single base substitution C G intron_variant MALY-DE 12 89871112 89871112 single base substitution A C intron_variant MALY-DE 12 89871112 89871112 single base substitution A C upstream_gene_variant MALY-DE 12 89878259 89878259 single base substitution A G downstream_gene_variant MALY-DE 12 89878259 89878259 single base substitution A G intron_variant MALY-DE 12 89878655 89878655 single base substitution G A downstream_gene_variant MALY-DE 12 89878655 89878655 single base substitution G A intron_variant MALY-DE 12 89892122 89892122 single base substitution T A intron_variant MALY-DE 12 89892122 89892122 single base substitution T A upstream_gene_variant MALY-DE 12 89895325 89895325 single base substitution G T intron_variant MALY-DE 12 89895325 89895325 single base substitution G T upstream_gene_variant MALY-DE 12 89898978 89898978 single base substitution G A intron_variant MALY-DE 12 89906087 89906087 single base substitution A G intron_variant MALY-DE 12 89908331 89908331 single base substitution G C intron_variant MALY-DE 12 89911726 89911726 single base substitution T A intron_variant MALY-DE 12 89912999 89912999 single base substitution A C intron_variant MALY-DE 12 89918895 89918895 single base substitution A T splice_donor_variant MALY-DE 12 89923930 89923931 deletion of <=200bp AT - upstream_gene_variant MELA-AU 12 89808535 89808535 single base substitution A C downstream_gene_variant MELA-AU 12 89810260 89810260 single base substitution G A downstream_gene_variant MELA-AU 12 89810581 89810581 single base substitution G A downstream_gene_variant MELA-AU 12 89811108 89811108 single base substitution T C downstream_gene_variant MELA-AU 12 89811355 89811355 single base substitution G A downstream_gene_variant MELA-AU 12 89811901 89811901 single base substitution G A downstream_gene_variant MELA-AU 12 89812034 89812034 single base substitution G A downstream_gene_variant MELA-AU 12 89812302 89812302 single base substitution G A downstream_gene_variant MELA-AU 12 89812359 89812359 single base substitution G A downstream_gene_variant MELA-AU 12 89813378 89813378 single base substitution G A downstream_gene_variant MELA-AU 12 89814221 89814221 single base substitution T A 3_prime_UTR_variant MELA-AU 12 89814221 89814221 single base substitution T A downstream_gene_variant MELA-AU 12 89814221 89814221 single base substitution T A exon_variant MELA-AU 12 89814400 89814400 single base substitution A G 3_prime_UTR_variant MELA-AU 12 89814400 89814400 single base substitution A G downstream_gene_variant MELA-AU 12 89814400 89814400 single base substitution A G exon_variant MELA-AU 12 89816066 89816066 single base substitution G A downstream_gene_variant MELA-AU 12 89816066 89816066 single base substitution G A intron_variant MELA-AU 12 89816714 89816714 single base substitution G A downstream_gene_variant MELA-AU 12 89816714 89816714 single base substitution G A intron_variant MELA-AU 12 89817668 89817668 single base substitution A G downstream_gene_variant MELA-AU 12 89817668 89817668 single base substitution A G intron_variant MELA-AU 12 89817962 89817962 single base substitution G A downstream_gene_variant MELA-AU 12 89817962 89817962 single base substitution G A intron_variant MELA-AU 12 89818318 89818318 single base substitution G A downstream_gene_variant MELA-AU 12 89818318 89818318 single base substitution G A intron_variant MELA-AU 12 89818733 89818733 single base substitution T C downstream_gene_variant MELA-AU 12 89818733 89818733 single base substitution T C intron_variant MELA-AU 12 89822822 89822822 single base substitution G A exon_variant MELA-AU 12 89822822 89822822 single base substitution G A intron_variant MELA-AU 12 89823766 89823766 single base substitution C T intron_variant MELA-AU 12 89823766 89823766 single base substitution C T upstream_gene_variant MELA-AU 12 89824117 89824117 single base substitution C T intron_variant MELA-AU 12 89824117 89824117 single base substitution C T upstream_gene_variant MELA-AU 12 89824144 89824144 single base substitution G A intron_variant MELA-AU 12 89824144 89824144 single base substitution G A upstream_gene_variant MELA-AU 12 89825848 89825848 single base substitution G A intron_variant MELA-AU 12 89825848 89825848 single base substitution G A upstream_gene_variant MELA-AU 12 89826625 89826625 single base substitution C G intron_variant MELA-AU 12 89826625 89826625 single base substitution C G upstream_gene_variant MELA-AU 12 89827293 89827293 single base substitution G A intron_variant MELA-AU 12 89827293 89827293 single base substitution G A upstream_gene_variant MELA-AU 12 89828821 89828821 single base substitution A T intron_variant MELA-AU 12 89829419 89829420 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 12 89830539 89830539 single base substitution T C intron_variant MELA-AU 12 89831038 89831039 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 12 89831591 89831591 single base substitution G A intron_variant MELA-AU 12 89832061 89832061 single base substitution C T intron_variant MELA-AU 12 89832121 89832121 single base substitution C T intron_variant MELA-AU 12 89832163 89832163 single base substitution G A intron_variant MELA-AU 12 89833516 89833516 single base substitution G A intron_variant MELA-AU 12 89833992 89833992 single base substitution C T intron_variant MELA-AU 12 89834310 89834310 single base substitution G A intron_variant MELA-AU 12 89834583 89834583 single base substitution G A intron_variant MELA-AU 12 89834617 89834617 single base substitution G A intron_variant MELA-AU 12 89834632 89834633 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 89834885 89834885 single base substitution G A intron_variant MELA-AU 12 89835202 89835202 single base substitution G A intron_variant MELA-AU 12 89835897 89835897 single base substitution T A intron_variant MELA-AU 12 89836064 89836064 single base substitution C T intron_variant MELA-AU 12 89837961 89837961 single base substitution G A intron_variant MELA-AU 12 89838574 89838574 single base substitution G A intron_variant MELA-AU 12 89839143 89839143 single base substitution G A intron_variant MELA-AU 12 89840761 89840761 single base substitution C T intron_variant MELA-AU 12 89840927 89840927 single base substitution A T intron_variant MELA-AU 12 89842720 89842720 single base substitution C T intron_variant MELA-AU 12 89843824 89843824 single base substitution G A intron_variant MELA-AU 12 89844048 89844048 single base substitution G A intron_variant MELA-AU 12 89845966 89845966 single base substitution G A intron_variant MELA-AU 12 89846847 89846847 single base substitution T C intron_variant MELA-AU 12 89847687 89847687 single base substitution C T intron_variant MELA-AU 12 89848556 89848556 single base substitution G A downstream_gene_variant MELA-AU 12 89848556 89848556 single base substitution G A intron_variant MELA-AU 12 89849041 89849041 single base substitution A G downstream_gene_variant MELA-AU 12 89849041 89849041 single base substitution A G intron_variant MELA-AU 12 89850374 89850374 single base substitution T A downstream_gene_variant MELA-AU 12 89850374 89850374 single base substitution T A intron_variant MELA-AU 12 89850800 89850800 single base substitution C T downstream_gene_variant MELA-AU 12 89850800 89850800 single base substitution C T intron_variant MELA-AU 12 89850986 89850986 single base substitution C T downstream_gene_variant MELA-AU 12 89850986 89850986 single base substitution C T intron_variant MELA-AU 12 89851127 89851127 single base substitution C T downstream_gene_variant MELA-AU 12 89851127 89851127 single base substitution C T intron_variant MELA-AU 12 89851847 89851847 single base substitution G A downstream_gene_variant MELA-AU 12 89851847 89851847 single base substitution G A intron_variant MELA-AU 12 89851981 89851981 single base substitution C T downstream_gene_variant MELA-AU 12 89851981 89851981 single base substitution C T intron_variant MELA-AU 12 89854763 89854763 single base substitution A G exon_variant MELA-AU 12 89854763 89854763 single base substitution A G intron_variant MELA-AU 12 89856534 89856534 single base substitution G A downstream_gene_variant MELA-AU 12 89856534 89856534 single base substitution G A intron_variant MELA-AU 12 89856534 89856534 single base substitution G A upstream_gene_variant MELA-AU 12 89859320 89859320 single base substitution C T downstream_gene_variant MELA-AU 12 89859320 89859320 single base substitution C T intron_variant MELA-AU 12 89859320 89859320 single base substitution C T upstream_gene_variant MELA-AU 12 89859580 89859580 single base substitution C T downstream_gene_variant MELA-AU 12 89859580 89859580 single base substitution C T intron_variant MELA-AU 12 89859580 89859580 single base substitution C T upstream_gene_variant MELA-AU 12 89861006 89861006 single base substitution T C intron_variant MELA-AU 12 89861966 89861966 single base substitution G A intron_variant MELA-AU 12 89863869 89863869 single base substitution G A intron_variant MELA-AU 12 89866384 89866384 single base substitution A T exon_variant MELA-AU 12 89866384 89866384 single base substitution A T intron_variant MELA-AU 12 89866384 89866384 single base substitution A T upstream_gene_variant MELA-AU 12 89866570 89866570 single base substitution G A intron_variant MELA-AU 12 89866570 89866570 single base substitution G A upstream_gene_variant MELA-AU 12 89866650 89866650 single base substitution G A intron_variant MELA-AU 12 89866650 89866650 single base substitution G A upstream_gene_variant MELA-AU 12 89867642 89867642 single base substitution G A intron_variant MELA-AU 12 89867642 89867642 single base substitution G A upstream_gene_variant MELA-AU 12 89867930 89867931 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 89867930 89867931 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 89869681 89869681 single base substitution G A intron_variant MELA-AU 12 89869681 89869681 single base substitution G A upstream_gene_variant MELA-AU 12 89870536 89870536 single base substitution T C intron_variant MELA-AU 12 89870536 89870536 single base substitution T C upstream_gene_variant MELA-AU 12 89870907 89870907 single base substitution A T intron_variant MELA-AU 12 89870907 89870907 single base substitution A T upstream_gene_variant MELA-AU 12 89871657 89871657 single base substitution C T intron_variant MELA-AU 12 89871958 89871958 single base substitution C T intron_variant MELA-AU 12 89872177 89872177 single base substitution T C intron_variant MELA-AU 12 89873097 89873097 single base substitution G A intron_variant MELA-AU 12 89873344 89873344 single base substitution C T intron_variant MELA-AU 12 89874077 89874077 single base substitution A G downstream_gene_variant MELA-AU 12 89874077 89874077 single base substitution A G intron_variant MELA-AU 12 89875295 89875295 single base substitution C T downstream_gene_variant MELA-AU 12 89875295 89875295 single base substitution C T intron_variant MELA-AU 12 89875780 89875780 single base substitution G A downstream_gene_variant MELA-AU 12 89875780 89875780 single base substitution G A intron_variant MELA-AU 12 89876942 89876942 single base substitution G A downstream_gene_variant MELA-AU 12 89876942 89876942 single base substitution G A intron_variant MELA-AU 12 89877360 89877361 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 12 89877360 89877361 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 12 89877798 89877798 single base substitution G C downstream_gene_variant MELA-AU 12 89877798 89877798 single base substitution G C intron_variant MELA-AU 12 89880271 89880271 single base substitution G A intron_variant MELA-AU 12 89880528 89880528 single base substitution G A intron_variant MELA-AU 12 89881000 89881000 single base substitution C T downstream_gene_variant MELA-AU 12 89881000 89881000 single base substitution C T intron_variant MELA-AU 12 89881271 89881272 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 89881271 89881272 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 89883105 89883105 single base substitution C A downstream_gene_variant MELA-AU 12 89883105 89883105 single base substitution C A intron_variant MELA-AU 12 89883191 89883191 single base substitution G A downstream_gene_variant MELA-AU 12 89883191 89883191 single base substitution G A intron_variant MELA-AU 12 89883756 89883756 single base substitution G A downstream_gene_variant MELA-AU 12 89883756 89883756 single base substitution G A intron_variant MELA-AU 12 89884368 89884368 single base substitution C A downstream_gene_variant MELA-AU 12 89884368 89884368 single base substitution C A intron_variant MELA-AU 12 89884440 89884440 single base substitution G A downstream_gene_variant MELA-AU 12 89884440 89884440 single base substitution G A intron_variant MELA-AU 12 89885220 89885220 single base substitution G A downstream_gene_variant MELA-AU 12 89885220 89885220 single base substitution G A intron_variant MELA-AU 12 89885532 89885532 single base substitution A G downstream_gene_variant MELA-AU 12 89885532 89885532 single base substitution A G intron_variant MELA-AU 12 89886973 89886973 single base substitution A G intron_variant MELA-AU 12 89887050 89887050 single base substitution G A intron_variant MELA-AU 12 89887221 89887221 single base substitution C T intron_variant MELA-AU 12 89887557 89887557 single base substitution C T intron_variant MELA-AU 12 89887615 89887615 single base substitution G A intron_variant MELA-AU 12 89887918 89887918 single base substitution G A intron_variant MELA-AU 12 89889438 89889438 single base substitution G A intron_variant MELA-AU 12 89889460 89889461 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 89889470 89889470 single base substitution G A intron_variant MELA-AU 12 89889571 89889571 single base substitution C T intron_variant MELA-AU 12 89890017 89890017 single base substitution G A intron_variant MELA-AU 12 89890520 89890520 single base substitution G A intron_variant MELA-AU 12 89892643 89892643 single base substitution G A intron_variant MELA-AU 12 89892643 89892643 single base substitution G A upstream_gene_variant MELA-AU 12 89892989 89892989 single base substitution G A intron_variant MELA-AU 12 89892989 89892989 single base substitution G A upstream_gene_variant MELA-AU 12 89893136 89893136 single base substitution G A intron_variant MELA-AU 12 89893136 89893136 single base substitution G A upstream_gene_variant MELA-AU 12 89893313 89893313 single base substitution G A intron_variant MELA-AU 12 89893313 89893313 single base substitution G A upstream_gene_variant MELA-AU 12 89893491 89893491 single base substitution G A intron_variant MELA-AU 12 89893491 89893491 single base substitution G A upstream_gene_variant MELA-AU 12 89894285 89894285 single base substitution G A intron_variant MELA-AU 12 89894285 89894285 single base substitution G A upstream_gene_variant MELA-AU 12 89895382 89895382 single base substitution C G intron_variant MELA-AU 12 89895382 89895382 single base substitution C G upstream_gene_variant MELA-AU 12 89896474 89896474 single base substitution G A intron_variant MELA-AU 12 89896529 89896529 single base substitution G T intron_variant MELA-AU 12 89897305 89897305 single base substitution G A intron_variant MELA-AU 12 89897384 89897384 single base substitution C T intron_variant MELA-AU 12 89897759 89897759 single base substitution G A intron_variant MELA-AU 12 89898713 89898713 single base substitution C T intron_variant MELA-AU 12 89899306 89899306 single base substitution T C intron_variant MELA-AU 12 89899375 89899375 single base substitution G A intron_variant MELA-AU 12 89899767 89899767 single base substitution G A intron_variant MELA-AU 12 89900303 89900303 single base substitution G A intron_variant MELA-AU 12 89900466 89900466 single base substitution G A intron_variant MELA-AU 12 89900778 89900778 single base substitution G A intron_variant MELA-AU 12 89900779 89900779 single base substitution G A intron_variant MELA-AU 12 89900782 89900782 single base substitution T G intron_variant MELA-AU 12 89900880 89900880 single base substitution C T intron_variant MELA-AU 12 89900971 89900971 single base substitution G A intron_variant MELA-AU 12 89901227 89901227 single base substitution T A intron_variant MELA-AU 12 89902433 89902433 single base substitution G A intron_variant MELA-AU 12 89903508 89903508 single base substitution G A intron_variant MELA-AU 12 89903643 89903643 single base substitution G A intron_variant MELA-AU 12 89904048 89904048 single base substitution G A intron_variant MELA-AU 12 89904446 89904446 single base substitution A G intron_variant MELA-AU 12 89905754 89905754 single base substitution C T intron_variant MELA-AU 12 89906322 89906322 single base substitution G A intron_variant MELA-AU 12 89906853 89906853 single base substitution G A intron_variant MELA-AU 12 89907737 89907737 single base substitution G A intron_variant MELA-AU 12 89909589 89909589 single base substitution A T intron_variant MELA-AU 12 89909753 89909753 single base substitution C T intron_variant MELA-AU 12 89909911 89909911 single base substitution T C intron_variant MELA-AU 12 89912053 89912053 single base substitution C A intron_variant MELA-AU 12 89912317 89912317 single base substitution A C intron_variant MELA-AU 12 89912617 89912618 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 12 89914140 89914140 single base substitution G A intron_variant MELA-AU 12 89914690 89914690 single base substitution G A intron_variant MELA-AU 12 89914705 89914705 single base substitution G A intron_variant MELA-AU 12 89914792 89914792 single base substitution T G intron_variant MELA-AU 12 89915129 89915129 single base substitution C T intron_variant MELA-AU 12 89915256 89915256 single base substitution C A intron_variant MELA-AU 12 89916858 89916858 single base substitution G A intron_variant MELA-AU 12 89917096 89917096 single base substitution C T intron_variant MELA-AU 12 89917436 89917437 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 89920157 89920157 single base substitution T A upstream_gene_variant MELA-AU 12 89920942 89920942 single base substitution C T upstream_gene_variant MELA-AU 12 89921354 89921354 single base substitution C T upstream_gene_variant MELA-AU 12 89922093 89922093 single base substitution T A upstream_gene_variant MELA-AU 12 89923059 89923059 single base substitution C T upstream_gene_variant MELA-AU 12 89923060 89923060 single base substitution C T upstream_gene_variant MELA-AU 12 89923707 89923707 single base substitution C T upstream_gene_variant MELA-AU 12 89924036 89924036 single base substitution A T upstream_gene_variant ORCA-IN 12 89829617 89829617 single base substitution C T intron_variant ORCA-IN 12 89855377 89855377 single base substitution G A intron_variant ORCA-IN 12 89861449 89861449 single base substitution G C 3_prime_UTR_variant ORCA-IN 12 89861449 89861449 single base substitution G C exon_variant ORCA-IN 12 89861449 89861449 single base substitution G C intron_variant ORCA-IN 12 89861449 89861449 single base substitution G C missense_variant L26V 76C>G ORCA-IN 12 89861449 89861449 single base substitution G C missense_variant L62V 184C>G ORCA-IN 12 89861449 89861449 single base substitution G C missense_variant T145S 434C>G ORCA-IN 12 89861449 89861449 single base substitution G C missense_variant T233S 698C>G ORCA-IN 12 89861449 89861449 single base substitution G C missense_variant T275S 824C>G ORCA-IN 12 89917989 89917989 single base substitution T A intron_variant OV-AU 12 89822917 89822917 single base substitution T C exon_variant OV-AU 12 89822917 89822917 single base substitution T C intron_variant OV-AU 12 89824324 89824324 single base substitution C T intron_variant OV-AU 12 89824324 89824324 single base substitution C T upstream_gene_variant OV-AU 12 89829074 89829074 single base substitution C T intron_variant OV-AU 12 89830245 89830245 single base substitution C A intron_variant OV-AU 12 89844087 89844087 single base substitution C T intron_variant OV-AU 12 89844740 89844740 single base substitution A C intron_variant OV-AU 12 89850255 89850255 single base substitution C T downstream_gene_variant OV-AU 12 89850255 89850255 single base substitution C T intron_variant OV-AU 12 89851429 89851429 single base substitution T A downstream_gene_variant OV-AU 12 89851429 89851429 single base substitution T A intron_variant OV-AU 12 89854285 89854285 single base substitution C T downstream_gene_variant OV-AU 12 89854285 89854285 single base substitution C T intron_variant OV-AU 12 89856355 89856355 single base substitution T C downstream_gene_variant OV-AU 12 89856355 89856355 single base substitution T C intron_variant OV-AU 12 89856355 89856355 single base substitution T C upstream_gene_variant OV-AU 12 89856941 89856941 single base substitution T G downstream_gene_variant OV-AU 12 89856941 89856941 single base substitution T G intron_variant OV-AU 12 89856941 89856941 single base substitution T G upstream_gene_variant OV-AU 12 89857281 89857281 single base substitution G T downstream_gene_variant OV-AU 12 89857281 89857281 single base substitution G T intron_variant OV-AU 12 89857281 89857281 single base substitution G T upstream_gene_variant OV-AU 12 89859457 89859457 single base substitution A C downstream_gene_variant OV-AU 12 89859457 89859457 single base substitution A C intron_variant OV-AU 12 89859457 89859457 single base substitution A C upstream_gene_variant OV-AU 12 89873985 89873985 single base substitution C T intron_variant OV-AU 12 89874732 89874732 single base substitution C A downstream_gene_variant OV-AU 12 89874732 89874732 single base substitution C A intron_variant OV-AU 12 89875189 89875189 single base substitution G A downstream_gene_variant OV-AU 12 89875189 89875189 single base substitution G A intron_variant OV-AU 12 89877093 89877093 single base substitution C A downstream_gene_variant OV-AU 12 89877093 89877093 single base substitution C A intron_variant OV-AU 12 89879432 89879432 single base substitution C G intron_variant OV-AU 12 89880204 89880204 single base substitution G T intron_variant OV-AU 12 89887154 89887154 single base substitution T C intron_variant OV-AU 12 89893706 89893706 single base substitution C T intron_variant OV-AU 12 89893706 89893706 single base substitution C T upstream_gene_variant OV-AU 12 89901923 89901923 single base substitution T A intron_variant OV-AU 12 89907792 89907792 single base substitution C A intron_variant OV-AU 12 89908003 89908003 single base substitution A C intron_variant OV-AU 12 89914214 89914214 single base substitution T A intron_variant PACA-AU 12 89816252 89816252 single base substitution C T downstream_gene_variant PACA-AU 12 89816252 89816252 single base substitution C T intron_variant PACA-AU 12 89819875 89819875 single base substitution C T exon_variant PACA-AU 12 89819875 89819875 single base substitution C T intron_variant PACA-AU 12 89824238 89824238 single base substitution C T intron_variant PACA-AU 12 89824238 89824238 single base substitution C T upstream_gene_variant PACA-AU 12 89837651 89837651 deletion of <=200bp A - intron_variant PACA-AU 12 89841765 89841765 insertion of <=200bp - AG intron_variant PACA-AU 12 89842034 89842034 single base substitution T C intron_variant PACA-AU 12 89843689 89843689 single base substitution C A intron_variant PACA-AU 12 89846654 89846654 single base substitution A T intron_variant PACA-AU 12 89849101 89849101 single base substitution G C downstream_gene_variant PACA-AU 12 89849101 89849101 single base substitution G C intron_variant PACA-AU 12 89853702 89853702 single base substitution G A downstream_gene_variant PACA-AU 12 89853702 89853702 single base substitution G A intron_variant PACA-AU 12 89857315 89857315 single base substitution C A downstream_gene_variant PACA-AU 12 89857315 89857315 single base substitution C A intron_variant PACA-AU 12 89857315 89857315 single base substitution C A upstream_gene_variant PACA-AU 12 89858407 89858407 single base substitution G T downstream_gene_variant PACA-AU 12 89858407 89858407 single base substitution G T intron_variant PACA-AU 12 89858407 89858407 single base substitution G T upstream_gene_variant PACA-AU 12 89869785 89869785 single base substitution G A intron_variant PACA-AU 12 89869785 89869785 single base substitution G A upstream_gene_variant PACA-AU 12 89870528 89870528 single base substitution T C intron_variant PACA-AU 12 89870528 89870528 single base substitution T C upstream_gene_variant PACA-AU 12 89870532 89870532 single base substitution T C intron_variant PACA-AU 12 89870532 89870532 single base substitution T C upstream_gene_variant PACA-AU 12 89870536 89870536 single base substitution T C intron_variant PACA-AU 12 89870536 89870536 single base substitution T C upstream_gene_variant PACA-AU 12 89873893 89873893 single base substitution A T intron_variant PACA-AU 12 89884340 89884340 insertion of <=200bp - TCAA downstream_gene_variant PACA-AU 12 89884340 89884340 insertion of <=200bp - TCAA intron_variant PACA-AU 12 89895098 89895098 single base substitution T C intron_variant PACA-AU 12 89895098 89895098 single base substitution T C upstream_gene_variant PACA-AU 12 89896257 89896257 single base substitution G T intron_variant PACA-AU 12 89904083 89904083 single base substitution G C intron_variant PACA-AU 12 89910041 89910041 single base substitution C G intron_variant PACA-AU 12 89923514 89923514 single base substitution A T upstream_gene_variant PACA-CA 12 89809158 89809158 single base substitution C T downstream_gene_variant PACA-CA 12 89809909 89809909 single base substitution G C downstream_gene_variant PACA-CA 12 89811790 89811790 single base substitution A G downstream_gene_variant PACA-CA 12 89817277 89817277 single base substitution T C downstream_gene_variant PACA-CA 12 89817277 89817277 single base substitution T C intron_variant PACA-CA 12 89819413 89819413 single base substitution A G exon_variant PACA-CA 12 89819413 89819413 single base substitution A G intron_variant PACA-CA 12 89819659 89819659 single base substitution C A exon_variant PACA-CA 12 89819659 89819659 single base substitution C A intron_variant PACA-CA 12 89821993 89821993 single base substitution A G exon_variant PACA-CA 12 89821993 89821993 single base substitution A G intron_variant PACA-CA 12 89827673 89827673 single base substitution A G intron_variant PACA-CA 12 89827673 89827673 single base substitution A G upstream_gene_variant PACA-CA 12 89828274 89828274 single base substitution T C intron_variant PACA-CA 12 89828732 89828732 insertion of <=200bp - A intron_variant PACA-CA 12 89830182 89830182 single base substitution A G intron_variant PACA-CA 12 89834772 89834772 single base substitution G A intron_variant PACA-CA 12 89835079 89835079 single base substitution A G intron_variant PACA-CA 12 89835579 89835579 single base substitution G A intron_variant PACA-CA 12 89841680 89841680 single base substitution G C intron_variant PACA-CA 12 89842698 89842698 single base substitution G T intron_variant PACA-CA 12 89849779 89849779 insertion of <=200bp - TTT downstream_gene_variant PACA-CA 12 89849779 89849779 insertion of <=200bp - TTT intron_variant PACA-CA 12 89852569 89852569 single base substitution G A downstream_gene_variant PACA-CA 12 89852569 89852569 single base substitution G A intron_variant PACA-CA 12 89857376 89857376 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 89857376 89857376 deletion of <=200bp A - intron_variant PACA-CA 12 89857376 89857376 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 89857783 89857783 single base substitution C T downstream_gene_variant PACA-CA 12 89857783 89857783 single base substitution C T intron_variant PACA-CA 12 89857783 89857783 single base substitution C T upstream_gene_variant PACA-CA 12 89864232 89864232 single base substitution G A 3_prime_UTR_variant PACA-CA 12 89864232 89864232 single base substitution G A exon_variant PACA-CA 12 89864232 89864232 single base substitution G A intron_variant PACA-CA 12 89864232 89864232 single base substitution G A missense_variant S109L 326C>T PACA-CA 12 89864232 89864232 single base substitution G A missense_variant S197L 590C>T PACA-CA 12 89864232 89864232 single base substitution G A missense_variant S239L 716C>T PACA-CA 12 89864232 89864232 single base substitution G A upstream_gene_variant PACA-CA 12 89864426 89864426 single base substitution C A intron_variant PACA-CA 12 89864426 89864426 single base substitution C A upstream_gene_variant PACA-CA 12 89864681 89864681 single base substitution C T intron_variant PACA-CA 12 89864681 89864681 single base substitution C T upstream_gene_variant PACA-CA 12 89865551 89865551 single base substitution T C intron_variant PACA-CA 12 89865551 89865551 single base substitution T C upstream_gene_variant PACA-CA 12 89876230 89876230 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 89876230 89876230 deletion of <=200bp A - intron_variant PACA-CA 12 89878016 89878016 single base substitution G C downstream_gene_variant PACA-CA 12 89878016 89878016 single base substitution G C intron_variant PACA-CA 12 89880680 89880680 single base substitution T A intron_variant PACA-CA 12 89881516 89881516 single base substitution T C downstream_gene_variant PACA-CA 12 89881516 89881516 single base substitution T C intron_variant PACA-CA 12 89885031 89885031 single base substitution T A downstream_gene_variant PACA-CA 12 89885031 89885031 single base substitution T A intron_variant PACA-CA 12 89885741 89885741 single base substitution G A 3_prime_UTR_variant PACA-CA 12 89885741 89885741 single base substitution G A downstream_gene_variant PACA-CA 12 89885741 89885741 single base substitution G A exon_variant PACA-CA 12 89885741 89885741 single base substitution G A stop_gained R100* 298C>T PACA-CA 12 89885741 89885741 single base substitution G A stop_gained R12* 34C>T PACA-CA 12 89885741 89885741 single base substitution G A stop_gained R142* 424C>T PACA-CA 12 89889731 89889731 single base substitution T C intron_variant PACA-CA 12 89896768 89896768 single base substitution A G intron_variant PACA-CA 12 89899792 89899792 single base substitution G A intron_variant PACA-CA 12 89901008 89901008 single base substitution C G intron_variant PACA-CA 12 89909180 89909180 deletion of <=200bp G - intron_variant PACA-CA 12 89919244 89919244 single base substitution C T 5_prime_UTR_variant PACA-CA 12 89919244 89919244 single base substitution C T intron_variant PACA-CA 12 89919244 89919244 single base substitution C T upstream_gene_variant PACA-CA 12 89923263 89923263 single base substitution T G upstream_gene_variant PAEN-AU 12 89839828 89839828 single base substitution G T intron_variant PAEN-AU 12 89848430 89848430 single base substitution C T intron_variant PAEN-AU 12 89881249 89881249 single base substitution T C downstream_gene_variant PAEN-AU 12 89881249 89881249 single base substitution T C intron_variant PAEN-AU 12 89918589 89918589 single base substitution A C intron_variant PAEN-IT 12 89827270 89827270 single base substitution C G intron_variant PAEN-IT 12 89827270 89827270 single base substitution C G upstream_gene_variant PAEN-IT 12 89833834 89833834 single base substitution C T intron_variant PAEN-IT 12 89877572 89877572 single base substitution C A downstream_gene_variant PAEN-IT 12 89877572 89877572 single base substitution C A intron_variant PAEN-IT 12 89901408 89901408 single base substitution T C intron_variant PBCA-DE 12 89818732 89818732 single base substitution G T downstream_gene_variant PBCA-DE 12 89818732 89818732 single base substitution G T intron_variant PBCA-DE 12 89824312 89824312 single base substitution C T intron_variant PBCA-DE 12 89824312 89824312 single base substitution C T upstream_gene_variant PBCA-DE 12 89825212 89825213 deletion of <=200bp AC - intron_variant PBCA-DE 12 89825212 89825213 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 12 89831203 89831203 single base substitution C T intron_variant PBCA-DE 12 89844239 89844239 single base substitution T G intron_variant PBCA-DE 12 89844619 89844619 single base substitution G T intron_variant PBCA-DE 12 89846185 89846185 deletion of <=200bp T - intron_variant PBCA-DE 12 89846739 89846739 single base substitution A C intron_variant PBCA-DE 12 89871891 89871891 single base substitution C T intron_variant PBCA-DE 12 89880664 89880665 deletion of <=200bp TC - intron_variant PBCA-DE 12 89921563 89921563 single base substitution G T upstream_gene_variant PBCA-DE 12 89923740 89923740 single base substitution G T upstream_gene_variant PBCA-DE 12 89923930 89923931 deletion of <=200bp AT - upstream_gene_variant PRAD-CA 12 89843066 89843066 single base substitution T G intron_variant PRAD-CA 12 89870536 89870536 single base substitution T C intron_variant PRAD-CA 12 89870536 89870536 single base substitution T C upstream_gene_variant PRAD-CA 12 89885416 89885416 single base substitution G A downstream_gene_variant PRAD-CA 12 89885416 89885416 single base substitution G A intron_variant PRAD-UK 12 89809658 89809658 single base substitution A C downstream_gene_variant PRAD-UK 12 89833012 89833012 single base substitution T C intron_variant PRAD-UK 12 89845848 89845848 single base substitution C T intron_variant PRAD-UK 12 89853510 89853510 insertion of <=200bp - A downstream_gene_variant PRAD-UK 12 89853510 89853510 insertion of <=200bp - A intron_variant PRAD-UK 12 89853519 89853519 insertion of <=200bp - A downstream_gene_variant PRAD-UK 12 89853519 89853519 insertion of <=200bp - A intron_variant PRAD-UK 12 89860181 89860181 single base substitution C T downstream_gene_variant PRAD-UK 12 89860181 89860181 single base substitution C T intron_variant PRAD-UK 12 89860181 89860181 single base substitution C T upstream_gene_variant PRAD-UK 12 89873372 89873372 single base substitution T G intron_variant PRAD-UK 12 89886044 89886044 single base substitution A G intron_variant PRAD-UK 12 89889299 89889299 single base substitution A C intron_variant PRAD-UK 12 89904811 89904811 single base substitution G A intron_variant PRAD-US 12 89917323 89917323 single base substitution C G intron_variant PRAD-US 12 89919737 89919737 deletion of <=200bp G - 5_prime_UTR_variant PRAD-US 12 89919737 89919737 deletion of <=200bp G - exon_variant PRAD-US 12 89919737 89919737 deletion of <=200bp G - upstream_gene_variant READ-US 12 89819034 89819034 single base substitution G A 3_prime_UTR_variant READ-US 12 89819034 89819034 single base substitution G A downstream_gene_variant READ-US 12 89819034 89819034 single base substitution G A exon_variant READ-US 12 89819034 89819034 single base substitution G A synonymous_variant D282D 846C>T READ-US 12 89819034 89819034 single base substitution G A synonymous_variant D370D 1110C>T READ-US 12 89819034 89819034 single base substitution G A synonymous_variant D412D 1236C>T READ-US 12 89860701 89860701 single base substitution T C splice_acceptor_variant READ-US 12 89916872 89916872 single base substitution G T intron_variant RECA-EU 12 89812791 89812791 single base substitution A T downstream_gene_variant RECA-EU 12 89814752 89814752 single base substitution A C 3_prime_UTR_variant RECA-EU 12 89814752 89814752 single base substitution A C downstream_gene_variant RECA-EU 12 89814752 89814752 single base substitution A C exon_variant RECA-EU 12 89842748 89842748 single base substitution G A intron_variant RECA-EU 12 89843038 89843038 single base substitution G A intron_variant RECA-EU 12 89855132 89855132 single base substitution G T intron_variant RECA-EU 12 89862517 89862517 single base substitution T G intron_variant RECA-EU 12 89864976 89864976 single base substitution C T intron_variant RECA-EU 12 89864976 89864976 single base substitution C T upstream_gene_variant RECA-EU 12 89868988 89868988 single base substitution A G intron_variant RECA-EU 12 89868988 89868988 single base substitution A G upstream_gene_variant RECA-EU 12 89878405 89878405 single base substitution A G downstream_gene_variant RECA-EU 12 89878405 89878405 single base substitution A G intron_variant RECA-EU 12 89892300 89892300 single base substitution C T intron_variant RECA-EU 12 89892300 89892300 single base substitution C T upstream_gene_variant RECA-EU 12 89897311 89897311 single base substitution C T intron_variant RECA-EU 12 89904554 89904554 single base substitution A T intron_variant RECA-EU 12 89904810 89904810 single base substitution C T intron_variant RECA-EU 12 89913028 89913028 single base substitution T G intron_variant RECA-EU 12 89922449 89922449 single base substitution C A upstream_gene_variant SKCA-BR 12 89809781 89809781 single base substitution G A downstream_gene_variant SKCA-BR 12 89812097 89812097 single base substitution G A downstream_gene_variant SKCA-BR 12 89812289 89812289 single base substitution G A downstream_gene_variant SKCA-BR 12 89815961 89815961 single base substitution A C downstream_gene_variant SKCA-BR 12 89815961 89815961 single base substitution A C intron_variant SKCA-BR 12 89816015 89816015 single base substitution A C downstream_gene_variant SKCA-BR 12 89816015 89816015 single base substitution A C intron_variant SKCA-BR 12 89828299 89828299 single base substitution G A intron_variant SKCA-BR 12 89829139 89829139 single base substitution G A intron_variant SKCA-BR 12 89829527 89829527 single base substitution A G intron_variant SKCA-BR 12 89836409 89836409 single base substitution A C intron_variant SKCA-BR 12 89838077 89838077 single base substitution G A intron_variant SKCA-BR 12 89840865 89840865 single base substitution C T intron_variant SKCA-BR 12 89843916 89843916 single base substitution G A intron_variant SKCA-BR 12 89845999 89845999 single base substitution G A intron_variant SKCA-BR 12 89848643 89848643 single base substitution A G downstream_gene_variant SKCA-BR 12 89848643 89848643 single base substitution A G intron_variant SKCA-BR 12 89849783 89849783 insertion of <=200bp - TTTG downstream_gene_variant SKCA-BR 12 89849783 89849783 insertion of <=200bp - TTTG intron_variant SKCA-BR 12 89853387 89853387 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 12 89853387 89853387 insertion of <=200bp - CA intron_variant SKCA-BR 12 89858496 89858496 single base substitution A C downstream_gene_variant SKCA-BR 12 89858496 89858496 single base substitution A C intron_variant SKCA-BR 12 89858496 89858496 single base substitution A C upstream_gene_variant SKCA-BR 12 89858596 89858596 single base substitution G A downstream_gene_variant SKCA-BR 12 89858596 89858596 single base substitution G A intron_variant SKCA-BR 12 89858596 89858596 single base substitution G A upstream_gene_variant SKCA-BR 12 89862477 89862477 single base substitution G A intron_variant SKCA-BR 12 89862478 89862478 single base substitution G A intron_variant SKCA-BR 12 89868022 89868022 single base substitution G A intron_variant SKCA-BR 12 89868022 89868022 single base substitution G A upstream_gene_variant SKCA-BR 12 89870474 89870478 deletion of <=200bp AATAG - intron_variant SKCA-BR 12 89870474 89870478 deletion of <=200bp AATAG - upstream_gene_variant SKCA-BR 12 89870512 89870540 deletion of <=200bp TAGATAGATAGATAGATAGATAGATAGAC - intron_variant SKCA-BR 12 89870512 89870540 deletion of <=200bp TAGATAGATAGATAGATAGATAGATAGAC - upstream_gene_variant SKCA-BR 12 89870524 89870544 deletion of <=200bp TAGATAGATAGATAGACAGAC - intron_variant SKCA-BR 12 89870524 89870544 deletion of <=200bp TAGATAGATAGATAGACAGAC - upstream_gene_variant SKCA-BR 12 89870540 89870540 single base substitution C T intron_variant SKCA-BR 12 89870540 89870540 single base substitution C T upstream_gene_variant SKCA-BR 12 89874048 89874048 single base substitution G A downstream_gene_variant SKCA-BR 12 89874048 89874048 single base substitution G A intron_variant SKCA-BR 12 89874372 89874374 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 12 89874372 89874374 deletion of <=200bp ATT - intron_variant SKCA-BR 12 89874816 89874830 deletion of <=200bp CAGGGCCTAATTGTT - downstream_gene_variant SKCA-BR 12 89874816 89874830 deletion of <=200bp CAGGGCCTAATTGTT - intron_variant SKCA-BR 12 89881938 89881938 single base substitution A G downstream_gene_variant SKCA-BR 12 89881938 89881938 single base substitution A G intron_variant SKCA-BR 12 89883592 89883592 single base substitution A G downstream_gene_variant SKCA-BR 12 89883592 89883592 single base substitution A G intron_variant SKCA-BR 12 89884687 89884709 deletion of <=200bp ATCCAAGCCAGGACCTGGACTGC - downstream_gene_variant SKCA-BR 12 89884687 89884709 deletion of <=200bp ATCCAAGCCAGGACCTGGACTGC - intron_variant SKCA-BR 12 89885688 89885688 single base substitution T C downstream_gene_variant SKCA-BR 12 89885688 89885688 single base substitution T C intron_variant SKCA-BR 12 89887163 89887163 single base substitution G A intron_variant SKCA-BR 12 89892039 89892039 single base substitution G A intron_variant SKCA-BR 12 89892039 89892039 single base substitution G A upstream_gene_variant SKCA-BR 12 89894296 89894296 single base substitution G A intron_variant SKCA-BR 12 89894296 89894296 single base substitution G A upstream_gene_variant SKCA-BR 12 89896398 89896398 single base substitution C T intron_variant SKCA-BR 12 89896855 89896855 insertion of <=200bp - TCTATCC intron_variant SKCA-BR 12 89899725 89899725 single base substitution G A intron_variant SKCA-BR 12 89900344 89900344 single base substitution G A intron_variant SKCA-BR 12 89905244 89905244 single base substitution C T intron_variant SKCA-BR 12 89911096 89911096 single base substitution C T intron_variant SKCA-BR 12 89921538 89921538 single base substitution T C upstream_gene_variant SKCA-BR 12 89922448 89922448 single base substitution C T upstream_gene_variant SKCA-BR 12 89922753 89922753 single base substitution G A upstream_gene_variant SKCA-BR 12 89922843 89922843 single base substitution C T upstream_gene_variant SKCA-BR 12 89923310 89923310 single base substitution G T upstream_gene_variant SKCM-US 12 89853418 89853418 single base substitution G C 3_prime_UTR_variant SKCM-US 12 89853418 89853418 single base substitution G C downstream_gene_variant SKCM-US 12 89853418 89853418 single base substitution G C intron_variant SKCM-US 12 89853418 89853418 single base substitution G C synonymous_variant T240T 720C>G SKCM-US 12 89853418 89853418 single base substitution G C synonymous_variant T328T 984C>G SKCM-US 12 89853418 89853418 single base substitution G C synonymous_variant T370T 1110C>G SKCM-US 12 89885749 89885749 single base substitution G A 3_prime_UTR_variant SKCM-US 12 89885749 89885749 single base substitution G A downstream_gene_variant SKCM-US 12 89885749 89885749 single base substitution G A exon_variant SKCM-US 12 89885749 89885749 single base substitution G A missense_variant S139F 416C>T SKCM-US 12 89885749 89885749 single base substitution G A missense_variant S97F 290C>T SKCM-US 12 89885749 89885749 single base substitution G A missense_variant S9F 26C>T SKCM-US 12 89916654 89916654 single base substitution G A intron_variant SKCM-US 12 89916703 89916703 single base substitution G A intron_variant SKCM-US 12 89917128 89917128 single base substitution G A intron_variant SKCM-US 12 89917186 89917186 single base substitution G T intron_variant SKCM-US 12 89917457 89917457 single base substitution G A intron_variant SKCM-US 12 89917791 89917791 single base substitution C T intron_variant STAD-US 12 89864189 89864189 single base substitution C T 3_prime_UTR_variant STAD-US 12 89864189 89864189 single base substitution C T exon_variant STAD-US 12 89864189 89864189 single base substitution C T intron_variant STAD-US 12 89864189 89864189 single base substitution C T synonymous_variant K123K 369G>A STAD-US 12 89864189 89864189 single base substitution C T synonymous_variant K211K 633G>A STAD-US 12 89864189 89864189 single base substitution C T synonymous_variant K253K 759G>A STAD-US 12 89864189 89864189 single base substitution C T upstream_gene_variant STAD-US 12 89864258 89864258 single base substitution T C 3_prime_UTR_variant STAD-US 12 89864258 89864258 single base substitution T C exon_variant STAD-US 12 89864258 89864258 single base substitution T C intron_variant STAD-US 12 89864258 89864258 single base substitution T C synonymous_variant G100G 300A>G STAD-US 12 89864258 89864258 single base substitution T C synonymous_variant G188G 564A>G STAD-US 12 89864258 89864258 single base substitution T C synonymous_variant G230G 690A>G STAD-US 12 89864258 89864258 single base substitution T C upstream_gene_variant STAD-US 12 89917407 89917407 single base substitution G C intron_variant STAD-US 12 89917656 89917656 single base substitution G A intron_variant STAD-US 12 89917838 89917840 deletion of <=200bp AGG - intron_variant STAD-US 12 89917932 89917932 single base substitution C A intron_variant THCA-SA 12 89913419 89913419 single base substitution C T intron_variant THCA-SA 12 89914261 89914261 single base substitution T C intron_variant THCA-SA 12 89919707 89919707 single base substitution G A 5_prime_UTR_variant THCA-SA 12 89919707 89919707 single base substitution G A exon_variant THCA-SA 12 89919707 89919707 single base substitution G A upstream_gene_variant THCA-US 12 89864264 89864264 single base substitution G A 3_prime_UTR_variant THCA-US 12 89864264 89864264 single base substitution G A exon_variant THCA-US 12 89864264 89864264 single base substitution G A intron_variant THCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S186S 558C>T THCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S228S 684C>T THCA-US 12 89864264 89864264 single base substitution G A synonymous_variant S98S 294C>T THCA-US 12 89864264 89864264 single base substitution G A upstream_gene_variant UCEC-US 12 89815023 89815023 single base substitution G T 3_prime_UTR_variant UCEC-US 12 89815023 89815023 single base substitution G T downstream_gene_variant UCEC-US 12 89815023 89815023 single base substitution G T exon_variant UCEC-US 12 89815023 89815023 single base substitution G T synonymous_variant I318I 954C>A UCEC-US 12 89815023 89815023 single base substitution G T synonymous_variant I406I 1218C>A UCEC-US 12 89815023 89815023 single base substitution G T synonymous_variant I448I 1344C>A UCEC-US 12 89860666 89860666 single base substitution G A 3_prime_UTR_variant UCEC-US 12 89860666 89860666 single base substitution G A exon_variant UCEC-US 12 89860666 89860666 single base substitution G A missense_variant H175Y 523C>T UCEC-US 12 89860666 89860666 single base substitution G A missense_variant H263Y 787C>T UCEC-US 12 89860666 89860666 single base substitution G A missense_variant H305Y 913C>T UCEC-US 12 89860666 89860666 single base substitution G A synonymous_variant C55C 165C>T UCEC-US 12 89860666 89860666 single base substitution G A synonymous_variant C91C 273C>T UCEC-US 12 89861454 89861454 single base substitution G T 3_prime_UTR_variant UCEC-US 12 89861454 89861454 single base substitution G T exon_variant UCEC-US 12 89861454 89861454 single base substitution G T intron_variant UCEC-US 12 89861454 89861454 single base substitution G T missense_variant S24Y 71C>A UCEC-US 12 89861454 89861454 single base substitution G T missense_variant S60Y 179C>A UCEC-US 12 89861454 89861454 single base substitution G T synonymous_variant V143V 429C>A UCEC-US 12 89861454 89861454 single base substitution G T synonymous_variant V231V 693C>A UCEC-US 12 89861454 89861454 single base substitution G T synonymous_variant V273V 819C>A UCEC-US 12 89864185 89864185 single base substitution G T 3_prime_UTR_variant UCEC-US 12 89864185 89864185 single base substitution G T exon_variant UCEC-US 12 89864185 89864185 single base substitution G T intron_variant UCEC-US 12 89864185 89864185 single base substitution G T missense_variant L125M 373C>A UCEC-US 12 89864185 89864185 single base substitution G T missense_variant L213M 637C>A UCEC-US 12 89864185 89864185 single base substitution G T missense_variant L255M 763C>A UCEC-US 12 89864185 89864185 single base substitution G T upstream_gene_variant UCEC-US 12 89865951 89865951 single base substitution G A 3_prime_UTR_variant UCEC-US 12 89865951 89865951 single base substitution G A exon_variant UCEC-US 12 89865951 89865951 single base substitution G A intron_variant UCEC-US 12 89865951 89865951 single base substitution G A missense_variant S143F 428C>T UCEC-US 12 89865951 89865951 single base substitution G A missense_variant S185F 554C>T UCEC-US 12 89865951 89865951 single base substitution G A missense_variant S55F 164C>T UCEC-US 12 89865951 89865951 single base substitution G A upstream_gene_variant UCEC-US 12 89866048 89866048 single base substitution A G 3_prime_UTR_variant UCEC-US 12 89866048 89866048 single base substitution A G exon_variant UCEC-US 12 89866048 89866048 single base substitution A G intron_variant UCEC-US 12 89866048 89866048 single base substitution A G missense_variant S111P 331T>C UCEC-US 12 89866048 89866048 single base substitution A G missense_variant S153P 457T>C UCEC-US 12 89866048 89866048 single base substitution A G missense_variant S23P 67T>C UCEC-US 12 89866048 89866048 single base substitution A G upstream_gene_variant UCEC-US 12 89890993 89890993 single base substitution G A 5_prime_UTR_variant UCEC-US 12 89890993 89890993 single base substitution G A exon_variant UCEC-US 12 89890993 89890993 single base substitution G A intron_variant UCEC-US 12 89890993 89890993 single base substitution G A missense_variant A34V 101C>T UCEC-US 12 89890993 89890993 single base substitution G A missense_variant A76V 227C>T UCEC-US 12 89894379 89894379 single base substitution G A intron_variant UCEC-US 12 89894379 89894379 single base substitution G A upstream_gene_variant UCEC-US 12 89894484 89894484 single base substitution A C intron_variant UCEC-US 12 89894484 89894484 single base substitution A C upstream_gene_variant UCEC-US 12 89916772 89916772 single base substitution G A intron_variant UCEC-US 12 89916872 89916872 single base substitution G T intron_variant UCEC-US 12 89916942 89916942 single base substitution G A intron_variant UCEC-US 12 89917242 89917242 single base substitution T C intron_variant UCEC-US 12 89917404 89917404 single base substitution G T intron_variant UCEC-US 12 89917558 89917558 single base substitution C G intron_variant UCEC-US 12 89917842 89917842 single base substitution G T intron_variant UCEC-US 12 89918056 89918056 single base substitution T C intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1023T COSM3667226 c.1011G>A p.E337E Substitution - coding silent 12:89466791-89466791 - 587342 COSM1221400 c.542A>G p.N181S Substitution - Missense 12:89472186-89472186 - TCGA-DC-6154-01 COSM3417248 c.1236C>T p.D412D Substitution - coding silent 12:89425257-89425257 - TCGA-DD-A4NJ-01 COSM4921043 c.131T>C p.L44P Substitution - Missense 12:89497312-89497312 - TCGA-BS-A0TE-01 COSM944283 c.227C>T p.A76V Substitution - Missense 12:89497216-89497216 - RK044_C01 COSM1628911 c.1160C>T p.A387V Substitution - Missense 12:89425333-89425333 - HCC144 COSM3704458 c.953A>G p.H318R Substitution - Missense 12:89466849-89466849 - TCGA-66-2785-01 COSM695499 c.856G>T p.A286S Substitution - Missense 12:89467640-89467640 - CRC-08T COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 - TCGA-A8-A07L-01 COSM431957 c.1278C>A p.L426L Substitution - coding silent 12:89425215-89425215 - TCGA-BR-8680-01 COSM4045288 c.759G>A p.K253K Substitution - coding silent 12:89470412-89470412 - 1115183 COSM5569111 c.734C>G p.T245R Substitution - Missense 12:89470437-89470437 - 2521243 COSM5886798 c.114G>A p.W38* Substitution - Nonsense 12:89497329-89497329 - PCSI_0083_Pa_X COSM3376398 c.424C>T p.R142* Substitution - Nonsense 12:89491964-89491964 - TCGA-CG-5728-01 COSM4045289 c.690A>G p.G230G Substitution - coding silent 12:89470481-89470481 - 61 COSM5739756 c.1279G>A p.A427T Substitution - Missense 12:89425214-89425214 - TCGA-MU-A5YI-01 COSM4855243 c.1354C>A p.R452R Substitution - coding silent 12:89421236-89421236 - PCSI_0083_Pa_P_526 COSM3376398 c.424C>T p.R142* Substitution - Nonsense 12:89491964-89491964 - LUAD-S01357 COSM386548 c.196G>A p.V66M Substitution - Missense 12:89497247-89497247 - ESCC_44 COSM5629980 c.208C>A p.P70T Substitution - Missense 12:89497235-89497235 - TCGA-AG-3892-01 COSM257767 c.983T>C p.I328T Substitution - Missense 12:89466819-89466819 - TCGA-E9-A2JS-01 COSM3813161 c.677-1G>T p.? Unknown 12:89470495-89470495 - TCGA-A8-A0A6-01 COSM1364744 c.1152T>G p.G384G Substitution - coding silent 12:89425341-89425341 - BD242T COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 - I2L-P19Tb-Tumor-Biopsy COSM5361648 c.34C>T p.R12C Substitution - Missense 12:89525186-89525186 - TCGA-AP-A059-01 COSM944274 c.1344C>A p.I448I Substitution - coding silent 12:89421246-89421246 - 587376 COSM1221404 c.285C>A p.F95L Substitution - Missense 12:89492103-89492103 - Gp5D COSM1995067 c.370A>T p.K124* Substitution - Nonsense 12:89492018-89492018 - I2L-P7-Tumor-Organoid COSM5361334 c.1333-5delT p.? Unknown 12:89421262-89421262 - CSCC-27-T COSM4589620 c.200_201insGTGC p.F68fs*24 Insertion - Frameshift 12:89497242-89497243 - LUAD_E00623 COSM353822 c.717G>T p.S239S Substitution - coding silent 12:89470454-89470454 - TCGA-A6-6781-01 COSM1364743 c.1278C>T p.L426L Substitution - coding silent 12:89425215-89425215 - CSCC-55-T COSM4514234 c.968C>T p.P323L Substitution - Missense 12:89466834-89466834 - PT46 COSM1995069 c.316C>T p.R106* Substitution - Nonsense 12:89492072-89492072 - PCSI_0083_Pa_P COSM3376398 c.424C>T p.R142* Substitution - Nonsense 12:89491964-89491964 - PT37 COSM5920503 c.739T>G p.S247A Substitution - Missense 12:89470432-89470432 - PCSI_0330_Pa_P_526 COSM4808487 c.716C>T p.S239L Substitution - Missense 12:89470455-89470455 - HCC139T COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 - LUAD-YINHD COSM348787 c.513G>T p.W171C Substitution - Missense 12:89472215-89472215 - PT42 COSM5925711 c.811-3C>T p.? Unknown 12:89467688-89467688 - TCGA-AA-A00N-01 COSM276832 c.887T>C p.L296S Substitution - Missense 12:89466915-89466915 - TCGA-AC-A23H-01 COSM3368981 c.684C>T p.S228S Substitution - coding silent 12:89470487-89470487 - HCT15 COSM1995040 c.1403A>G p.Q468R Substitution - Missense 12:89421187-89421187 - HCC144T COSM3704458 c.953A>G p.H318R Substitution - Missense 12:89466849-89466849 - CSCC-18-T COSM4572412 c.738T>A p.A246A Substitution - coding silent 12:89470433-89470433 - TCGA-24-1846-01 COSM1323025 c.593G>C p.G198A Substitution - Missense 12:89471697-89471697 - 056-01-1TD COSM5418524 c.697T>G p.C233G Substitution - Missense 12:89470474-89470474 - tumor_4177376 COSM3356364 c.100+2T>A p.? Unknown 12:89525118-89525118 - TCGA-A8-A07U-01 COSM431956 c.1279G>T p.A427S Substitution - Missense 12:89425214-89425214 - 587376 COSM1221402 c.679C>A p.H227N Substitution - Missense 12:89470492-89470492 - 587376 COSM1221401 c.974T>G p.L325R Substitution - Missense 12:89466828-89466828 - Gp2D COSM4627150 c.633A>C p.K211N Substitution - Missense 12:89471657-89471657 - TCGA-A3-3374-01 COSM1493077 c.272+2T>A p.? Unknown 12:89497169-89497169 - TCGA-B5-A0JY-01 COSM944276 c.819C>A p.V273V Substitution - coding silent 12:89467677-89467677 - ESCC_11 COSM5624242 c.250G>A p.V84M Substitution - Missense 12:89497193-89497193 - sysucc-311T COSM1995069 c.316C>T p.R106* Substitution - Nonsense 12:89492072-89492072 - ESCC_108 COSM5638622 c.863G>A p.G288E Substitution - Missense 12:89467633-89467633 - TCGA-E9-A2JS-01 COSM3813162 c.677-2A>C p.? Unknown 12:89470496-89470496 - BD7T COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 - ESCC_76 COSM5635064 c.1336G>C p.V446L Substitution - Missense 12:89421254-89421254 - LS411 COSM4614440 c.527_528insA p.Q177fs*4 Insertion - Frameshift 12:89472200-89472201 - TCGA-AC-A23H-01 COSM3813160 c.1288G>A p.D430N Substitution - Missense 12:89425205-89425205 - PT17_1 COSM5899068 c.332C>T p.S111L Substitution - Missense 12:89492056-89492056 - BD121T COSM5515504 c.609A>T p.S203S Substitution - coding silent 12:89471681-89471681 - BK0055 COSM4188174 c.885A>C p.L295F Substitution - Missense 12:89466917-89466917 - 587376 COSM1221403 c.572T>G p.F191C Substitution - Missense 12:89471718-89471718 - TCGA-AM-5820-01 COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 - RKO COSM1995075 c.195C>T p.S65S Substitution - coding silent 12:89497248-89497248 - TCGA-AP-A0LM-01 COSM944277 c.763C>A p.L255M Substitution - Missense 12:89470408-89470408 - TCGA-AD-5900-01 COSM1364745 c.1015A>G p.K339E Substitution - Missense 12:89466787-89466787 - pfg008T COSM316540 c.127A>G p.M43V Substitution - Missense 12:89497316-89497316 - S00501 COSM316540 c.127A>G p.M43V Substitution - Missense 12:89497316-89497316 - TCGA-JW-A5VJ-01 COSM4818472 c.1014A>G p.E338E Substitution - coding silent 12:89466788-89466788 - ccRCC-10 COSM1663603 c.239G>A p.R80Q Substitution - Missense 12:89497204-89497204 - 9227_T COSM5040709 c.582T>G p.F194L Substitution - Missense 12:89471708-89471708 - TCGA-32-4213-01 COSM3399166 c.701T>C p.I234T Substitution - Missense 12:89470470-89470470 - TCGA-AP-A0LM-01 COSM944278 c.554C>T p.S185F Substitution - Missense 12:89472174-89472174 - TCGA-D1-A167-01 COSM944275 c.913C>T p.H305Y Substitution - Missense 12:89466889-89466889 - S00501 COSM316540 c.127A>G p.M43V Substitution - Missense 12:89497316-89497316 - TCGA-A3-3320-01 COSM1493077 c.272+2T>A p.? Unknown 12:89497169-89497169 - TCGA-85-6561-01 COSM695500 c.1297G>T p.E433* Substitution - Nonsense 12:89425196-89425196 - TCGA-EL-A3T9-01 COSM3368981 c.684C>T p.S228S Substitution - coding silent 12:89470487-89470487 - TCGA-ER-A19P-06 COSM3466258 c.1110C>G p.T370T Substitution - coding silent 12:89459641-89459641 - TCGA-AX-A0J0-01 COSM944279 c.457T>C p.S153P Substitution - Missense 12:89472271-89472271 - RK136_C01 COSM3738585 c.546C>G p.F182L Substitution - Missense 12:89472182-89472182 - TCGA-A3-3357-01 COSM469023 c.303T>C p.H101H Substitution - coding silent 12:89492085-89492085 - PT49 COSM5943983 c.880-14_880-6delGACTTTTTT p.? Unknown 12:89466928-89466936 - TCGA-F5-6814-01 COSM3417249 c.880-2A>G p.? Unknown 12:89466924-89466924 - pfg038T COSM4758662 c.97C>T p.L33F Substitution - Missense 12:89525123-89525123 - TCGA-FU-A3HY-01 COSM4838581 c.252G>A p.V84V Substitution - coding silent 12:89497191-89497191 - OSCC-GB_00740111 COSM4891006 c.824C>G p.T275S Substitution - Missense 12:89467672-89467672 - TCGA-RP-A695-06 COSM4896795 c.416C>T p.S139F Substitution - Missense 12:89491972-89491972 - pfg008T COSM316540 c.127A>G p.M43V Substitution - Missense 12:89497316-89497316 - H1155 COSM1195216 c.1146C>G p.D382E Substitution - Missense 12:89425347-89425347 - ESCC_45 COSM5630267 c.1198G>C p.E400Q Substitution - Missense 12:89425295-89425295 - I2L-P19Tb-Tumor-Organoid COSM5361648 c.34C>T p.R12C Substitution - Missense 12:89525186-89525186 - P04-1243 COSM246689 c.1057G>T p.D353Y Substitution - Missense 12:89459694-89459694 - DLD1 COSM1995040 c.1403A>G p.Q468R Substitution - Missense 12:89421187-89421187 - YUOMEGA COSM5376175 c.285C>T p.F95F Substitution - coding silent 12:89492103-89492103 - TCGA-59-2351-01 COSM80747 c.717G>A p.S239S Substitution - coding silent 12:89470454-89470454 - BD64T COSM1606735 c.453-12_453-3delTCTTCTTTCT p.? Unknown 12:89472278-89472287 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.25130 12q21.33 614784

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.101-3960T>C 12 89895079 CM A G Missense p.I234T c.701T>C 12 89864247 GBM A G Missense p.V231A c.692T>C 12 89864256 CM A G Synonymous p.D39D c.117T>C 12 89891103 STAD A G Synonymous p.H101H c.303T>C 12 89885862 RCCC A - IntronicDeletion . c.1033-15delT 12 89853510 STAD C A Missense p.A427S c.1279G>T 12 89818991 BRCA C A Nonsense p.E433* c.1297G>T 12 89818973 LUSC C - Frameshift p.V147Yfs*12 c.439delG 12 89885726 RCCC C G Missense p.Q476H c.1428G>C 12 89814939 MM C T IntronicSNV . c.101-5100G>A 12 89896219 CM C T Synonymous p.S239S c.717G>A 12 89864231 OV G A IntronicSNV . c.101-4814C>T 12 89895933 CM G A IntronicSNV . c.101-5161C>T 12 89896280 CM G A Missense p.A76V c.227C>T 12 89890993 UCEC G C Synonymous p.L314L c.942C>G 12 89860637 LUAD G C Synonymous p.T370T c.1110C>G 12 89853418 CM G T IntronicSNV . c.101-2791C>A 12 89893910 CLL G T IntronicSNV . c.101-4369C>A 12 89895488 HC G T Synonymous p.L426L c.1278C>A 12 89818992 BRCA T A IntronicSNV . c.1114-1553A>T 12 89820709 HC T C Missense p.M43V c.127A>G 12 89891093 SCLC T C Missense p.M43V c.127A>G 12 89891093 STAD T C Synonymous p.G230G c.690A>G 12 89864258 STAD - T Frameshift p.N190Kfs*6 c.569dupA 12 89865498 RCCC