Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 85872161 85872161 + Silent SNP C C T TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr2:85872161C>T c.1518C>T c.(1516-1518)gaC>gaT p.D506D BLCA 2 85843553 85843553 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:85843553G>A c.235G>A c.(235-237)Gat>Aat p.D79N BLCA 2 85843586 85843586 + Splice_Site SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:85843586G>C c.268G>C c.(268-270)Gca>Cca p.A90P BLCA 2 85843587 85843587 + Splice_Site SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:85843587G>A c.e1+1 BLCA 2 85852670 85852684 + In_Frame_Del DEL GAAGCCCACTTTCAC GAAGCCCACTTTCAC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr2:85852670_85852684delGAAGCCCACTTTCAC c.579_593delGAAGCCCACTTTCAC c.(577-594)ttgaagcccactttcaca>tta p.KPTFT194del BLCA 2 85857963 85857963 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr2:85857963G>A c.843G>A c.(841-843)atG>atA p.M281I BLCA 2 85866454 85866454 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr2:85866454C>T c.1224C>T c.(1222-1224)ctC>ctT p.L408L BRCA 2 85850804 85850804 + Missense_Mutation SNP G G A TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr2:85850804G>A c.469G>A c.(469-471)Gtc>Atc p.V157I BRCA 2 85850817 85850817 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:85850817A>C c.482A>C c.(481-483)cAc>cCc p.H161P BRCA 2 85850904 85850904 + Splice_Site SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 g.chr2:85850904C>T c.569C>T c.(568-570)aCg>aTg p.T190M BRCA 2 85852772 85852772 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr2:85852772G>C c.681G>C c.(679-681)ctG>ctC p.L227L BRCA 2 85857864 85857864 + Silent SNP T T G TCGA-BH-A0EB-01A-11W-A050-09 TCGA-BH-A0EB-10A-01W-A055-09 g.chr2:85857864T>G c.744T>G c.(742-744)ccT>ccG p.P248P BRCA 2 85857906 85857906 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:85857906C>G c.786C>G c.(784-786)atC>atG p.I262M BRCA 2 85857983 85857983 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:85857983G>A c.863G>A c.(862-864)cGa>cAa p.R288Q BRCA 2 85866465 85866465 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:85866465A>G c.1235A>G c.(1234-1236)cAa>cGa p.Q412R COAD 2 85863239 85863239 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:85863239A>C c.1013A>C c.(1012-1014)aAg>aCg p.K338T COAD 2 85868177 85868177 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:85868177A>C c.1363A>C c.(1363-1365)Aag>Cag p.K455Q COADREAD 2 85863239 85863239 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:85863239A>C c.1013A>C c.(1012-1014)aAg>aCg p.K338T COADREAD 2 85868177 85868177 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:85868177A>C c.1363A>C c.(1363-1365)Aag>Cag p.K455Q COADREAD 2 85872186 85872186 + Missense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr2:85872186C>T c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W DLBC 2 85843348 85843348 + Silent SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr2:85843348C>T c.30C>T c.(28-30)cgC>cgT p.R10R DLBC 2 85857936 85857936 + Missense_Mutation SNP G G C TCGA-GS-A9TX-01A-11D-A382-10 TCGA-GS-A9TX-10A-01D-A385-10 g.chr2:85857936G>C c.816G>C c.(814-816)ttG>ttC p.L272F ESCA 2 85843346 85843346 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr2:85843346C>G c.28C>G c.(28-30)Cgc>Ggc p.R10G ESCA 2 85846379 85846379 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr2:85846379G>T c.305G>T c.(304-306)aGc>aTc p.S102I ESCA 2 85875088 85875088 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr2:85875088G>A c.1599G>A c.(1597-1599)caG>caA p.Q533Q GBM 2 85863233 85863233 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr2:85863233G>A c.1007G>A c.(1006-1008)gGc>gAc p.G336D GBMLGG 2 85843529 85843529 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 g.chr2:85843529C>T c.211C>T c.(211-213)Cgg>Tgg p.R71W GBMLGG 2 85848692 85848692 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:85848692G>A c.423G>A c.(421-423)aaG>aaA p.K141K GBMLGG 2 85852729 85852729 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 g.chr2:85852729G>A c.638G>A c.(637-639)cGg>cAg p.R213Q GBMLGG 2 85863233 85863233 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chr2:85863233G>A c.1007G>A c.(1006-1008)gGc>gAc p.G336D GBMLGG 2 85868167 85868167 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:85868167C>A c.1353C>A c.(1351-1353)atC>atA p.I451I KIPAN 2 85875075 85875075 + Nonsense_Mutation SNP T T G TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr2:85875075T>G c.1586T>G c.(1585-1587)tTa>tGa p.L529* KIRP 2 85875075 85875075 + Nonsense_Mutation SNP T T G TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr2:85875075T>G c.1586T>G c.(1585-1587)tTa>tGa p.L529* LGG 2 85843529 85843529 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 g.chr2:85843529C>T c.211C>T c.(211-213)Cgg>Tgg p.R71W LGG 2 85848692 85848692 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:85848692G>A c.423G>A c.(421-423)aaG>aaA p.K141K LGG 2 85852729 85852729 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 g.chr2:85852729G>A c.638G>A c.(637-639)cGg>cAg p.R213Q LGG 2 85868167 85868167 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:85868167C>A c.1353C>A c.(1351-1353)atC>atA p.I451I LUAD 2 85866372 85866372 + Missense_Mutation SNP A A C TCGA-75-6206-01A-11D-1753-08 TCGA-75-6206-10A-01D-1753-08 g.chr2:85866372A>C c.1142A>C c.(1141-1143)gAg>gCg p.E381A LUAD 2 85875930 85875930 + Nonstop_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr2:85875930G>C c.1697G>C c.(1696-1698)tGa>tCa p.*566S LUSC 2 85850862 85850862 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr2:85850862C>A c.527C>A c.(526-528)cCa>cAa p.P176Q PAAD 2 85857980 85857980 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr2:85857980C>T c.860C>T c.(859-861)cCt>cTt p.P287L READ 2 85872186 85872186 + Missense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr2:85872186C>T c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W SKCM 2 85848678 85848678 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:85848678C>T c.409C>T c.(409-411)Ctg>Ttg p.L137L SKCM 2 85850842 85850842 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr2:85850842C>T c.507C>T c.(505-507)acC>acT p.T169T SKCM 2 85866352 85866352 + Silent SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr2:85866352C>T c.1122C>T c.(1120-1122)ctC>ctT p.L374L SKCM 2 85866461 85866461 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:85866461C>T c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S SKCM 2 85866462 85866462 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:85866462C>T c.1232C>T c.(1231-1233)cCc>cTc p.P411L SKCM 2 85868235 85868235 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr2:85868235C>T c.1421C>T c.(1420-1422)cCt>cTt p.P474L SKCM 2 85872198 85872198 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:85872198C>T c.1555C>T c.(1555-1557)Ctt>Ttt p.L519F SKCM 2 85875082 85875082 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr2:85875082C>T c.1593C>T c.(1591-1593)gaC>gaT p.D531D

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 2 85836116 85836116 single base substitution G C intron_variant BLCA-US 2 85836116 85836116 single base substitution G C upstream_gene_variant BLCA-US 2 85836187 85836187 single base substitution C T intron_variant BLCA-US 2 85836187 85836187 single base substitution C T upstream_gene_variant BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - 3_prime_UTR_variant BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - disruptive_inframe_deletion LKPTFT115L BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - disruptive_inframe_deletion LKPTFT193L BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - disruptive_inframe_deletion LKPTFT90L BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - downstream_gene_variant BLCA-US 2 85852670 85852684 deletion of <=200bp GAAGCCCACTTTCAC - exon_variant BLCA-US 2 85857963 85857963 single base substitution G A exon_variant BLCA-US 2 85857963 85857963 single base substitution G A intron_variant BLCA-US 2 85857963 85857963 single base substitution G A missense_variant M178I 534G>A BLCA-US 2 85857963 85857963 single base substitution G A missense_variant M281I 843G>A BRCA-EU 2 85824986 85824986 single base substitution C G upstream_gene_variant BRCA-EU 2 85826477 85826477 single base substitution C T upstream_gene_variant BRCA-EU 2 85828362 85828362 single base substitution C T upstream_gene_variant BRCA-EU 2 85828986 85828986 single base substitution C T upstream_gene_variant BRCA-EU 2 85829861 85829861 single base substitution C T upstream_gene_variant BRCA-EU 2 85830228 85830228 single base substitution C T intron_variant BRCA-EU 2 85830526 85830526 single base substitution G C intron_variant BRCA-EU 2 85831043 85831043 single base substitution T C intron_variant BRCA-EU 2 85831228 85831228 single base substitution C G intron_variant BRCA-EU 2 85831531 85831531 single base substitution C T intron_variant BRCA-EU 2 85835899 85835899 single base substitution G C intron_variant BRCA-EU 2 85835899 85835899 single base substitution G C upstream_gene_variant BRCA-EU 2 85836868 85836868 single base substitution A G intron_variant BRCA-EU 2 85836868 85836868 single base substitution A G upstream_gene_variant BRCA-EU 2 85836990 85836990 single base substitution G T intron_variant BRCA-EU 2 85836990 85836990 single base substitution G T upstream_gene_variant BRCA-EU 2 85837322 85837322 single base substitution G C intron_variant BRCA-EU 2 85837322 85837322 single base substitution G C upstream_gene_variant BRCA-EU 2 85838384 85838384 single base substitution C T intron_variant BRCA-EU 2 85838384 85838384 single base substitution C T upstream_gene_variant BRCA-EU 2 85838573 85838573 single base substitution G A exon_variant BRCA-EU 2 85838573 85838573 single base substitution G A intron_variant BRCA-EU 2 85838573 85838573 single base substitution G A upstream_gene_variant BRCA-EU 2 85838793 85838793 single base substitution C T intron_variant BRCA-EU 2 85838793 85838793 single base substitution C T upstream_gene_variant BRCA-EU 2 85839108 85839108 single base substitution C T intron_variant BRCA-EU 2 85839108 85839108 single base substitution C T upstream_gene_variant BRCA-EU 2 85839697 85839697 single base substitution G A intron_variant BRCA-EU 2 85839697 85839697 single base substitution G A upstream_gene_variant BRCA-EU 2 85840468 85840468 deletion of <=200bp A - intron_variant BRCA-EU 2 85840468 85840468 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 85842595 85842595 single base substitution T C intron_variant BRCA-EU 2 85842595 85842595 single base substitution T C upstream_gene_variant BRCA-EU 2 85842743 85842743 single base substitution C A intron_variant BRCA-EU 2 85842743 85842743 single base substitution C A upstream_gene_variant BRCA-EU 2 85842902 85842902 single base substitution C T intron_variant BRCA-EU 2 85842902 85842902 single base substitution C T upstream_gene_variant BRCA-EU 2 85843346 85843346 single base substitution C T exon_variant BRCA-EU 2 85843346 85843346 single base substitution C T intron_variant BRCA-EU 2 85843346 85843346 single base substitution C T missense_variant R10C 28C>T BRCA-EU 2 85843346 85843346 single base substitution C T upstream_gene_variant BRCA-EU 2 85843413 85843413 single base substitution G C exon_variant BRCA-EU 2 85843413 85843413 single base substitution G C intron_variant BRCA-EU 2 85843413 85843413 single base substitution G C missense_variant R32P 95G>C BRCA-EU 2 85843593 85843593 single base substitution G A intron_variant BRCA-EU 2 85843687 85843687 single base substitution G C intron_variant BRCA-EU 2 85844176 85844176 single base substitution G C intron_variant BRCA-EU 2 85844231 85844231 single base substitution G C intron_variant BRCA-EU 2 85844233 85844233 single base substitution A T intron_variant BRCA-EU 2 85844487 85844487 single base substitution C G intron_variant BRCA-EU 2 85845823 85845825 deletion of <=200bp TCT - intron_variant BRCA-EU 2 85845990 85845990 single base substitution T A intron_variant BRCA-EU 2 85845990 85845990 single base substitution T A upstream_gene_variant BRCA-EU 2 85846381 85846381 single base substitution C T exon_variant BRCA-EU 2 85846381 85846381 single base substitution C T missense_variant R103C 307C>T BRCA-EU 2 85846381 85846381 single base substitution C T missense_variant R25C 73C>T BRCA-EU 2 85846381 85846381 single base substitution C T upstream_gene_variant BRCA-EU 2 85846404 85846404 single base substitution C T exon_variant BRCA-EU 2 85846404 85846404 single base substitution C T synonymous_variant T110T 330C>T BRCA-EU 2 85846404 85846404 single base substitution C T synonymous_variant T32T 96C>T BRCA-EU 2 85846404 85846404 single base substitution C T upstream_gene_variant BRCA-EU 2 85846432 85846432 single base substitution T A intron_variant BRCA-EU 2 85846432 85846432 single base substitution T A upstream_gene_variant BRCA-EU 2 85848941 85848941 single base substitution G A downstream_gene_variant BRCA-EU 2 85848941 85848941 single base substitution G A intron_variant BRCA-EU 2 85848941 85848941 single base substitution G A upstream_gene_variant BRCA-EU 2 85848980 85848980 single base substitution T A downstream_gene_variant BRCA-EU 2 85848980 85848980 single base substitution T A intron_variant BRCA-EU 2 85848980 85848980 single base substitution T A upstream_gene_variant BRCA-EU 2 85850788 85850788 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 85850788 85850788 single base substitution C T downstream_gene_variant BRCA-EU 2 85850788 85850788 single base substitution C T exon_variant BRCA-EU 2 85850788 85850788 single base substitution C T synonymous_variant H151H 453C>T BRCA-EU 2 85850788 85850788 single base substitution C T synonymous_variant H48H 144C>T BRCA-EU 2 85850788 85850788 single base substitution C T synonymous_variant H73H 219C>T BRCA-EU 2 85850788 85850788 single base substitution C T upstream_gene_variant BRCA-EU 2 85852546 85852546 insertion of <=200bp - TG downstream_gene_variant BRCA-EU 2 85852546 85852546 insertion of <=200bp - TG intron_variant BRCA-EU 2 85852821 85852821 single base substitution T C downstream_gene_variant BRCA-EU 2 85852821 85852821 single base substitution T C splice_region_variant BRCA-EU 2 85854381 85854381 single base substitution G A downstream_gene_variant BRCA-EU 2 85854381 85854381 single base substitution G A intron_variant BRCA-EU 2 85856244 85856244 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 85856244 85856244 deletion of <=200bp T - intron_variant BRCA-EU 2 85858787 85858787 single base substitution C G intron_variant BRCA-EU 2 85858787 85858787 single base substitution C G upstream_gene_variant BRCA-EU 2 85859060 85859060 single base substitution G C intron_variant BRCA-EU 2 85859060 85859060 single base substitution G C upstream_gene_variant BRCA-EU 2 85863447 85863447 single base substitution C G intron_variant BRCA-EU 2 85863447 85863447 single base substitution C G upstream_gene_variant BRCA-EU 2 85863543 85863543 single base substitution C A intron_variant BRCA-EU 2 85863543 85863543 single base substitution C A upstream_gene_variant BRCA-EU 2 85866385 85866385 single base substitution G T downstream_gene_variant BRCA-EU 2 85866385 85866385 single base substitution G T exon_variant BRCA-EU 2 85866385 85866385 single base substitution G T missense_variant E282D 846G>T BRCA-EU 2 85866385 85866385 single base substitution G T missense_variant E385D 1155G>T BRCA-EU 2 85866385 85866385 single base substitution G T upstream_gene_variant BRCA-EU 2 85867792 85867792 single base substitution C T downstream_gene_variant BRCA-EU 2 85867792 85867792 single base substitution C T intron_variant BRCA-EU 2 85867792 85867792 single base substitution C T upstream_gene_variant BRCA-EU 2 85868569 85868569 single base substitution G T downstream_gene_variant BRCA-EU 2 85868569 85868569 single base substitution G T intron_variant BRCA-EU 2 85868569 85868569 single base substitution G T upstream_gene_variant BRCA-EU 2 85869658 85869658 single base substitution C A downstream_gene_variant BRCA-EU 2 85869658 85869658 single base substitution C A intron_variant BRCA-EU 2 85869658 85869658 single base substitution C A upstream_gene_variant BRCA-EU 2 85871281 85871281 single base substitution C G downstream_gene_variant BRCA-EU 2 85871281 85871281 single base substitution C G intron_variant BRCA-EU 2 85871281 85871281 single base substitution C G upstream_gene_variant BRCA-EU 2 85871964 85872001 deletion of <=200bp GGTCCTAAAATAGGGCTGAACAATTTTGTGGTCCGTTT - intron_variant BRCA-EU 2 85871964 85872001 deletion of <=200bp GGTCCTAAAATAGGGCTGAACAATTTTGTGGTCCGTTT - upstream_gene_variant BRCA-EU 2 85873218 85873218 single base substitution C T downstream_gene_variant BRCA-EU 2 85873218 85873218 single base substitution C T exon_variant BRCA-EU 2 85873218 85873218 single base substitution C T intron_variant BRCA-EU 2 85874714 85874714 single base substitution C T downstream_gene_variant BRCA-EU 2 85874714 85874714 single base substitution C T intron_variant BRCA-EU 2 85875523 85875523 single base substitution A G downstream_gene_variant BRCA-EU 2 85875523 85875523 single base substitution A G intron_variant BRCA-EU 2 85876129 85876129 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 85876129 85876129 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 85876129 85876129 deletion of <=200bp T - exon_variant BRCA-EU 2 85876129 85876129 deletion of <=200bp T - intron_variant BRCA-EU 2 85877964 85877964 single base substitution G C downstream_gene_variant BRCA-EU 2 85878954 85878954 single base substitution C G downstream_gene_variant BRCA-EU 2 85879227 85879227 single base substitution C G downstream_gene_variant BRCA-FR 2 85830228 85830228 single base substitution C T intron_variant BRCA-FR 2 85831228 85831228 single base substitution C G intron_variant BRCA-FR 2 85831531 85831531 single base substitution C T intron_variant BRCA-FR 2 85845697 85845697 single base substitution A C intron_variant BRCA-FR 2 85848980 85848980 single base substitution T A downstream_gene_variant BRCA-FR 2 85848980 85848980 single base substitution T A intron_variant BRCA-FR 2 85848980 85848980 single base substitution T A upstream_gene_variant BRCA-FR 2 85868385 85868385 single base substitution G T downstream_gene_variant BRCA-FR 2 85868385 85868385 single base substitution G T intron_variant BRCA-FR 2 85868385 85868385 single base substitution G T upstream_gene_variant BRCA-FR 2 85877964 85877964 single base substitution G C downstream_gene_variant BRCA-FR 2 85880274 85880274 single base substitution G A downstream_gene_variant BRCA-KR 2 85848558 85848558 single base substitution G A intron_variant BRCA-KR 2 85848558 85848558 single base substitution G A upstream_gene_variant BRCA-UK 2 85832739 85832739 single base substitution C G intron_variant BRCA-UK 2 85856244 85856244 deletion of <=200bp T - downstream_gene_variant BRCA-UK 2 85856244 85856244 deletion of <=200bp T - intron_variant BRCA-US 2 85826426 85826426 single base substitution C T upstream_gene_variant BRCA-US 2 85827041 85827041 single base substitution C G upstream_gene_variant BRCA-US 2 85836560 85836560 single base substitution G A intron_variant BRCA-US 2 85836560 85836560 single base substitution G A upstream_gene_variant BRCA-US 2 85850804 85850804 single base substitution G A 3_prime_UTR_variant BRCA-US 2 85850804 85850804 single base substitution G A downstream_gene_variant BRCA-US 2 85850804 85850804 single base substitution G A exon_variant BRCA-US 2 85850804 85850804 single base substitution G A missense_variant V157I 469G>A BRCA-US 2 85850804 85850804 single base substitution G A missense_variant V54I 160G>A BRCA-US 2 85850804 85850804 single base substitution G A missense_variant V79I 235G>A BRCA-US 2 85850804 85850804 single base substitution G A upstream_gene_variant BRCA-US 2 85850817 85850817 single base substitution A C 3_prime_UTR_variant BRCA-US 2 85850817 85850817 single base substitution A C downstream_gene_variant BRCA-US 2 85850817 85850817 single base substitution A C exon_variant BRCA-US 2 85850817 85850817 single base substitution A C missense_variant H161P 482A>C BRCA-US 2 85850817 85850817 single base substitution A C missense_variant H58P 173A>C BRCA-US 2 85850817 85850817 single base substitution A C missense_variant H83P 248A>C BRCA-US 2 85850817 85850817 single base substitution A C upstream_gene_variant BRCA-US 2 85850904 85850904 single base substitution C T downstream_gene_variant BRCA-US 2 85850904 85850904 single base substitution C T exon_variant BRCA-US 2 85850904 85850904 single base substitution C T missense_variant T112M 335C>T BRCA-US 2 85850904 85850904 single base substitution C T missense_variant T190M 569C>T BRCA-US 2 85850904 85850904 single base substitution C T missense_variant T87M 260C>T BRCA-US 2 85850904 85850904 single base substitution C T splice_region_variant BRCA-US 2 85852772 85852772 single base substitution G C 3_prime_UTR_variant BRCA-US 2 85852772 85852772 single base substitution G C downstream_gene_variant BRCA-US 2 85852772 85852772 single base substitution G C exon_variant BRCA-US 2 85852772 85852772 single base substitution G C synonymous_variant L124L 372G>C BRCA-US 2 85852772 85852772 single base substitution G C synonymous_variant L227L 681G>C BRCA-US 2 85857864 85857864 single base substitution T G exon_variant BRCA-US 2 85857864 85857864 single base substitution T G intron_variant BRCA-US 2 85857864 85857864 single base substitution T G synonymous_variant P145P 435T>G BRCA-US 2 85857864 85857864 single base substitution T G synonymous_variant P248P 744T>G BRCA-US 2 85857906 85857906 single base substitution C G exon_variant BRCA-US 2 85857906 85857906 single base substitution C G intron_variant BRCA-US 2 85857906 85857906 single base substitution C G missense_variant I159M 477C>G BRCA-US 2 85857906 85857906 single base substitution C G missense_variant I262M 786C>G BRCA-US 2 85857983 85857983 single base substitution G A exon_variant BRCA-US 2 85857983 85857983 single base substitution G A intron_variant BRCA-US 2 85857983 85857983 single base substitution G A missense_variant R185Q 554G>A BRCA-US 2 85857983 85857983 single base substitution G A missense_variant R288Q 863G>A BRCA-US 2 85866465 85866465 single base substitution A G downstream_gene_variant BRCA-US 2 85866465 85866465 single base substitution A G exon_variant BRCA-US 2 85866465 85866465 single base substitution A G missense_variant Q309R 926A>G BRCA-US 2 85866465 85866465 single base substitution A G missense_variant Q412R 1235A>G BRCA-US 2 85866465 85866465 single base substitution A G upstream_gene_variant BTCA-JP 2 85828968 85828968 single base substitution C G upstream_gene_variant BTCA-JP 2 85836054 85836054 single base substitution C T intron_variant BTCA-JP 2 85836054 85836054 single base substitution C T upstream_gene_variant BTCA-JP 2 85836084 85836084 single base substitution C T intron_variant BTCA-JP 2 85836084 85836084 single base substitution C T upstream_gene_variant BTCA-JP 2 85836475 85836475 single base substitution G C intron_variant BTCA-JP 2 85836475 85836475 single base substitution G C upstream_gene_variant BTCA-JP 2 85839341 85839341 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 2 85839341 85839341 deletion of <=200bp T - exon_variant BTCA-JP 2 85839341 85839341 deletion of <=200bp T - intron_variant BTCA-JP 2 85839341 85839341 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 85843739 85843739 single base substitution C T intron_variant BTCA-JP 2 85850905 85850905 single base substitution G A downstream_gene_variant BTCA-JP 2 85850905 85850905 single base substitution G A exon_variant BTCA-JP 2 85850905 85850905 single base substitution G A splice_region_variant BTCA-JP 2 85857868 85857868 single base substitution C T exon_variant BTCA-JP 2 85857868 85857868 single base substitution C T intron_variant BTCA-JP 2 85857868 85857868 single base substitution C T missense_variant R147W 439C>T BTCA-JP 2 85857868 85857868 single base substitution C T missense_variant R250W 748C>T BTCA-JP 2 85864472 85864472 single base substitution C G intron_variant BTCA-JP 2 85864472 85864472 single base substitution C G upstream_gene_variant BTCA-JP 2 85866362 85866362 single base substitution G A exon_variant BTCA-JP 2 85866362 85866362 single base substitution G A missense_variant E275K 823G>A BTCA-JP 2 85866362 85866362 single base substitution G A missense_variant E378K 1132G>A BTCA-JP 2 85866362 85866362 single base substitution G A upstream_gene_variant BTCA-JP 2 85866501 85866501 single base substitution G A downstream_gene_variant BTCA-JP 2 85866501 85866501 single base substitution G A exon_variant BTCA-JP 2 85866501 85866501 single base substitution G A missense_variant G321D 962G>A BTCA-JP 2 85866501 85866501 single base substitution G A missense_variant G424D 1271G>A BTCA-JP 2 85866501 85866501 single base substitution G A upstream_gene_variant BTCA-JP 2 85868073 85868073 single base substitution T C downstream_gene_variant BTCA-JP 2 85868073 85868073 single base substitution T C intron_variant BTCA-JP 2 85868073 85868073 single base substitution T C upstream_gene_variant CESC-US 2 85828196 85828196 single base substitution C T upstream_gene_variant CESC-US 2 85838418 85838418 single base substitution G A intron_variant CESC-US 2 85838418 85838418 single base substitution G A upstream_gene_variant CESC-US 2 85838793 85838793 single base substitution C T intron_variant CESC-US 2 85838793 85838793 single base substitution C T upstream_gene_variant CESC-US 2 85838864 85838864 single base substitution C G intron_variant CESC-US 2 85838864 85838864 single base substitution C G upstream_gene_variant CESC-US 2 85876225 85876225 deletion of <=200bp T - 3_prime_UTR_variant CESC-US 2 85876225 85876225 deletion of <=200bp T - downstream_gene_variant CESC-US 2 85876225 85876225 deletion of <=200bp T - exon_variant CESC-US 2 85876361 85876361 single base substitution G C 3_prime_UTR_variant CESC-US 2 85876361 85876361 single base substitution G C downstream_gene_variant CESC-US 2 85876361 85876361 single base substitution G C exon_variant CLLE-ES 2 85843095 85843095 single base substitution G A intron_variant CLLE-ES 2 85843095 85843095 single base substitution G A upstream_gene_variant CLLE-ES 2 85874813 85874813 single base substitution A G downstream_gene_variant CLLE-ES 2 85874813 85874813 single base substitution A G intron_variant COAD-US 2 85826721 85826721 single base substitution G A upstream_gene_variant COAD-US 2 85843348 85843348 single base substitution C T exon_variant COAD-US 2 85843348 85843348 single base substitution C T intron_variant COAD-US 2 85843348 85843348 single base substitution C T synonymous_variant R10R 30C>T COAD-US 2 85843348 85843348 single base substitution C T upstream_gene_variant COAD-US 2 85843431 85843431 single base substitution C T exon_variant COAD-US 2 85843431 85843431 single base substitution C T intron_variant COAD-US 2 85843431 85843431 single base substitution C T missense_variant P38L 113C>T COAD-US 2 85863239 85863239 single base substitution A C exon_variant COAD-US 2 85863239 85863239 single base substitution A C missense_variant K235T 704A>C COAD-US 2 85863239 85863239 single base substitution A C missense_variant K338T 1013A>C COAD-US 2 85863239 85863239 single base substitution A C upstream_gene_variant COCA-CN 2 85826367 85826367 single base substitution G A upstream_gene_variant COCA-CN 2 85826781 85826781 single base substitution G T upstream_gene_variant COCA-CN 2 85829038 85829038 single base substitution A C upstream_gene_variant COCA-CN 2 85843637 85843637 single base substitution C T intron_variant COCA-CN 2 85863117 85863117 single base substitution T C intron_variant COCA-CN 2 85863117 85863117 single base substitution T C upstream_gene_variant COCA-CN 2 85868077 85868077 single base substitution G T downstream_gene_variant COCA-CN 2 85868077 85868077 single base substitution G T intron_variant COCA-CN 2 85868077 85868077 single base substitution G T upstream_gene_variant EOPC-DE 2 85828347 85828347 single base substitution C T upstream_gene_variant EOPC-DE 2 85872704 85872704 single base substitution G A downstream_gene_variant EOPC-DE 2 85872704 85872704 single base substitution G A intron_variant ESAD-UK 2 85826835 85826835 single base substitution G C upstream_gene_variant ESAD-UK 2 85829557 85829557 single base substitution G A upstream_gene_variant ESAD-UK 2 85831157 85831157 single base substitution C T intron_variant ESAD-UK 2 85833413 85833413 single base substitution C T intron_variant ESAD-UK 2 85834833 85834833 single base substitution G A intron_variant ESAD-UK 2 85834833 85834833 single base substitution G A upstream_gene_variant ESAD-UK 2 85835516 85835518 deletion of <=200bp GTC - intron_variant ESAD-UK 2 85835516 85835518 deletion of <=200bp GTC - upstream_gene_variant ESAD-UK 2 85835519 85835519 single base substitution C A intron_variant ESAD-UK 2 85835519 85835519 single base substitution C A upstream_gene_variant ESAD-UK 2 85837457 85837457 single base substitution G A intron_variant ESAD-UK 2 85837457 85837457 single base substitution G A upstream_gene_variant ESAD-UK 2 85839434 85839434 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 85839434 85839434 single base substitution C T exon_variant ESAD-UK 2 85839434 85839434 single base substitution C T intron_variant ESAD-UK 2 85839434 85839434 single base substitution C T upstream_gene_variant ESAD-UK 2 85840589 85840589 single base substitution C T intron_variant ESAD-UK 2 85840589 85840589 single base substitution C T upstream_gene_variant ESAD-UK 2 85840816 85840816 single base substitution G C intron_variant ESAD-UK 2 85840816 85840816 single base substitution G C upstream_gene_variant ESAD-UK 2 85841299 85841299 single base substitution G T intron_variant ESAD-UK 2 85841299 85841299 single base substitution G T upstream_gene_variant ESAD-UK 2 85841568 85841568 single base substitution C G intron_variant ESAD-UK 2 85841568 85841568 single base substitution C G upstream_gene_variant ESAD-UK 2 85843729 85843729 single base substitution G A intron_variant ESAD-UK 2 85844356 85844356 single base substitution C T intron_variant ESAD-UK 2 85845513 85845513 single base substitution C T intron_variant ESAD-UK 2 85845863 85845863 single base substitution T C intron_variant ESAD-UK 2 85846821 85846821 single base substitution T G intron_variant ESAD-UK 2 85846821 85846821 single base substitution T G upstream_gene_variant ESAD-UK 2 85848197 85848197 single base substitution T G intron_variant ESAD-UK 2 85848197 85848197 single base substitution T G upstream_gene_variant ESAD-UK 2 85848959 85848959 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 85848959 85848959 deletion of <=200bp T - intron_variant ESAD-UK 2 85848959 85848959 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 85849131 85849131 single base substitution C T downstream_gene_variant ESAD-UK 2 85849131 85849131 single base substitution C T intron_variant ESAD-UK 2 85849131 85849131 single base substitution C T upstream_gene_variant ESAD-UK 2 85851545 85851545 single base substitution T C downstream_gene_variant ESAD-UK 2 85851545 85851545 single base substitution T C intron_variant ESAD-UK 2 85852493 85852493 single base substitution G T downstream_gene_variant ESAD-UK 2 85852493 85852493 single base substitution G T intron_variant ESAD-UK 2 85855961 85855961 single base substitution C T downstream_gene_variant ESAD-UK 2 85855961 85855961 single base substitution C T intron_variant ESAD-UK 2 85856661 85856661 single base substitution C T downstream_gene_variant ESAD-UK 2 85856661 85856661 single base substitution C T intron_variant ESAD-UK 2 85858848 85858848 single base substitution T A intron_variant ESAD-UK 2 85858848 85858848 single base substitution T A upstream_gene_variant ESAD-UK 2 85859140 85859140 single base substitution C T intron_variant ESAD-UK 2 85859140 85859140 single base substitution C T upstream_gene_variant ESAD-UK 2 85860710 85860710 single base substitution T C intron_variant ESAD-UK 2 85860710 85860710 single base substitution T C upstream_gene_variant ESAD-UK 2 85862259 85862259 single base substitution T G intron_variant ESAD-UK 2 85862259 85862259 single base substitution T G upstream_gene_variant ESAD-UK 2 85865155 85865155 insertion of <=200bp - C intron_variant ESAD-UK 2 85865155 85865155 insertion of <=200bp - C upstream_gene_variant ESAD-UK 2 85867542 85867542 single base substitution G A downstream_gene_variant ESAD-UK 2 85867542 85867542 single base substitution G A intron_variant ESAD-UK 2 85867542 85867542 single base substitution G A upstream_gene_variant ESAD-UK 2 85872152 85872152 single base substitution C T exon_variant ESAD-UK 2 85872152 85872152 single base substitution C T intron_variant ESAD-UK 2 85872152 85872152 single base substitution C T synonymous_variant I400I 1200C>T ESAD-UK 2 85872152 85872152 single base substitution C T synonymous_variant I503I 1509C>T ESAD-UK 2 85878340 85878340 single base substitution T A downstream_gene_variant ESAD-UK 2 85880389 85880389 single base substitution G A downstream_gene_variant ESCA-CN 2 85838796 85838796 single base substitution T C intron_variant ESCA-CN 2 85838796 85838796 single base substitution T C upstream_gene_variant ESCA-CN 2 85843334 85843334 single base substitution A T exon_variant ESCA-CN 2 85843334 85843334 single base substitution A T intron_variant ESCA-CN 2 85843334 85843334 single base substitution A T stop_gained K6* 16A>T ESCA-CN 2 85843334 85843334 single base substitution A T upstream_gene_variant GBM-US 2 85828199 85828199 single base substitution C G upstream_gene_variant GBM-US 2 85836146 85836146 single base substitution C T intron_variant GBM-US 2 85836146 85836146 single base substitution C T upstream_gene_variant GBM-US 2 85863233 85863233 single base substitution G A exon_variant GBM-US 2 85863233 85863233 single base substitution G A missense_variant G233D 698G>A GBM-US 2 85863233 85863233 single base substitution G A missense_variant G336D 1007G>A GBM-US 2 85863233 85863233 single base substitution G A upstream_gene_variant KIRC-US 2 85828149 85828149 single base substitution G T upstream_gene_variant KIRC-US 2 85828190 85828190 single base substitution C T upstream_gene_variant KIRC-US 2 85866457 85866457 single base substitution C T downstream_gene_variant KIRC-US 2 85866457 85866457 single base substitution C T exon_variant KIRC-US 2 85866457 85866457 single base substitution C T synonymous_variant I306I 918C>T KIRC-US 2 85866457 85866457 single base substitution C T synonymous_variant I409I 1227C>T KIRC-US 2 85866457 85866457 single base substitution C T upstream_gene_variant KIRP-US 2 85875075 85875075 single base substitution T G downstream_gene_variant KIRP-US 2 85875075 85875075 single base substitution T G exon_variant KIRP-US 2 85875075 85875075 single base substitution T G intron_variant KIRP-US 2 85875075 85875075 single base substitution T G missense_variant Y484D 1450T>G KIRP-US 2 85875075 85875075 single base substitution T G stop_gained L426* 1277T>G KIRP-US 2 85875075 85875075 single base substitution T G stop_gained L529* 1586T>G LAML-KR 2 85837176 85837176 single base substitution T C intron_variant LAML-KR 2 85837176 85837176 single base substitution T C upstream_gene_variant LAML-KR 2 85843693 85843693 single base substitution T G intron_variant LAML-KR 2 85854422 85854422 single base substitution G T downstream_gene_variant LAML-KR 2 85854422 85854422 single base substitution G T intron_variant LAML-KR 2 85863394 85863394 single base substitution C T intron_variant LAML-KR 2 85863394 85863394 single base substitution C T upstream_gene_variant LGG-US 2 85839085 85839085 single base substitution C G intron_variant LGG-US 2 85839085 85839085 single base substitution C G upstream_gene_variant LGG-US 2 85843529 85843529 single base substitution C T exon_variant LGG-US 2 85843529 85843529 single base substitution C T intron_variant LGG-US 2 85843529 85843529 single base substitution C T missense_variant R71W 211C>T LICA-CN 2 85836608 85836608 single base substitution A C intron_variant LICA-CN 2 85836608 85836608 single base substitution A C upstream_gene_variant LICA-FR 2 85828227 85828241 deletion of <=200bp GGACCTGGCAGGCAG - upstream_gene_variant LICA-FR 2 85848636 85848636 single base substitution C T downstream_gene_variant LICA-FR 2 85848636 85848636 single base substitution C T exon_variant LICA-FR 2 85848636 85848636 single base substitution C T intron_variant LICA-FR 2 85848636 85848636 single base substitution C T synonymous_variant L123L 367C>T LICA-FR 2 85848636 85848636 single base substitution C T synonymous_variant L45L 133C>T LICA-FR 2 85848636 85848636 single base substitution C T upstream_gene_variant LICA-FR 2 85866362 85866362 single base substitution G A exon_variant LICA-FR 2 85866362 85866362 single base substitution G A missense_variant E275K 823G>A LICA-FR 2 85866362 85866362 single base substitution G A missense_variant E378K 1132G>A LICA-FR 2 85866362 85866362 single base substitution G A upstream_gene_variant LICA-FR 2 85879762 85879763 deletion of <=200bp AA - downstream_gene_variant LIHC-US 2 85843340 85843340 single base substitution G A exon_variant LIHC-US 2 85843340 85843340 single base substitution G A intron_variant LIHC-US 2 85843340 85843340 single base substitution G A missense_variant E8K 22G>A LIHC-US 2 85843340 85843340 single base substitution G A upstream_gene_variant LINC-JP 2 85825238 85825238 single base substitution C A upstream_gene_variant LINC-JP 2 85827934 85827934 single base substitution A C upstream_gene_variant LINC-JP 2 85830919 85830919 single base substitution T G intron_variant LINC-JP 2 85833570 85833570 single base substitution A G intron_variant LINC-JP 2 85833570 85833570 single base substitution A G upstream_gene_variant LINC-JP 2 85836386 85836386 single base substitution A T intron_variant LINC-JP 2 85836386 85836386 single base substitution A T upstream_gene_variant LINC-JP 2 85837806 85837806 single base substitution C A intron_variant LINC-JP 2 85837806 85837806 single base substitution C A upstream_gene_variant LINC-JP 2 85838490 85838490 single base substitution T C intron_variant LINC-JP 2 85838490 85838490 single base substitution T C upstream_gene_variant LINC-JP 2 85838493 85838493 single base substitution T C intron_variant LINC-JP 2 85838493 85838493 single base substitution T C upstream_gene_variant LINC-JP 2 85838515 85838515 single base substitution C G exon_variant LINC-JP 2 85838515 85838515 single base substitution C G intron_variant LINC-JP 2 85838515 85838515 single base substitution C G upstream_gene_variant LINC-JP 2 85839275 85839275 single base substitution T A 5_prime_UTR_variant LINC-JP 2 85839275 85839275 single base substitution T A exon_variant LINC-JP 2 85839275 85839275 single base substitution T A intron_variant LINC-JP 2 85839275 85839275 single base substitution T A upstream_gene_variant LINC-JP 2 85863317 85863317 single base substitution G T intron_variant LINC-JP 2 85863317 85863317 single base substitution G T upstream_gene_variant LINC-JP 2 85869902 85869902 single base substitution A G downstream_gene_variant LINC-JP 2 85869902 85869902 single base substitution A G intron_variant LINC-JP 2 85869902 85869902 single base substitution A G upstream_gene_variant LINC-JP 2 85871847 85871847 deletion of <=200bp T - downstream_gene_variant LINC-JP 2 85871847 85871847 deletion of <=200bp T - intron_variant LINC-JP 2 85871847 85871847 deletion of <=200bp T - upstream_gene_variant LINC-JP 2 85875306 85875306 single base substitution A G downstream_gene_variant LINC-JP 2 85875306 85875306 single base substitution A G intron_variant LIRI-JP 2 85825580 85825580 single base substitution T A upstream_gene_variant LIRI-JP 2 85825793 85825797 deletion of <=200bp AGAAA - upstream_gene_variant LIRI-JP 2 85826822 85826822 single base substitution C A upstream_gene_variant LIRI-JP 2 85828365 85828365 single base substitution C T upstream_gene_variant LIRI-JP 2 85828517 85828517 single base substitution A G upstream_gene_variant LIRI-JP 2 85829367 85829367 single base substitution C T upstream_gene_variant LIRI-JP 2 85832644 85832644 insertion of <=200bp - T intron_variant LIRI-JP 2 85832832 85832832 single base substitution C A intron_variant LIRI-JP 2 85837637 85837637 single base substitution A G intron_variant LIRI-JP 2 85837637 85837637 single base substitution A G upstream_gene_variant LIRI-JP 2 85837697 85837697 single base substitution G C intron_variant LIRI-JP 2 85837697 85837697 single base substitution G C upstream_gene_variant LIRI-JP 2 85840843 85840843 single base substitution G C intron_variant LIRI-JP 2 85840843 85840843 single base substitution G C upstream_gene_variant LIRI-JP 2 85841366 85841366 single base substitution C G intron_variant LIRI-JP 2 85841366 85841366 single base substitution C G upstream_gene_variant LIRI-JP 2 85842949 85842949 single base substitution C T intron_variant LIRI-JP 2 85842949 85842949 single base substitution C T upstream_gene_variant LIRI-JP 2 85845744 85845744 single base substitution A G intron_variant LIRI-JP 2 85848298 85848298 single base substitution T C intron_variant LIRI-JP 2 85848298 85848298 single base substitution T C upstream_gene_variant LIRI-JP 2 85849921 85849921 single base substitution T G downstream_gene_variant LIRI-JP 2 85849921 85849921 single base substitution T G intron_variant LIRI-JP 2 85849921 85849921 single base substitution T G upstream_gene_variant LIRI-JP 2 85855333 85855333 single base substitution A T downstream_gene_variant LIRI-JP 2 85855333 85855333 single base substitution A T intron_variant LIRI-JP 2 85855676 85855676 single base substitution A G downstream_gene_variant LIRI-JP 2 85855676 85855676 single base substitution A G intron_variant LIRI-JP 2 85862264 85862264 single base substitution T C intron_variant LIRI-JP 2 85862264 85862264 single base substitution T C upstream_gene_variant LIRI-JP 2 85864179 85864179 single base substitution G T intron_variant LIRI-JP 2 85864179 85864179 single base substitution G T upstream_gene_variant LIRI-JP 2 85864625 85864625 single base substitution G T intron_variant LIRI-JP 2 85864625 85864625 single base substitution G T upstream_gene_variant LIRI-JP 2 85865662 85865662 single base substitution A T intron_variant LIRI-JP 2 85865662 85865662 single base substitution A T upstream_gene_variant LIRI-JP 2 85867838 85867838 single base substitution C T downstream_gene_variant LIRI-JP 2 85867838 85867838 single base substitution C T intron_variant LIRI-JP 2 85867838 85867838 single base substitution C T upstream_gene_variant LIRI-JP 2 85868242 85868242 single base substitution G A downstream_gene_variant LIRI-JP 2 85868242 85868242 single base substitution G A splice_donor_variant LIRI-JP 2 85868242 85868242 single base substitution G A upstream_gene_variant LIRI-JP 2 85871744 85871744 single base substitution C G downstream_gene_variant LIRI-JP 2 85871744 85871744 single base substitution C G intron_variant LIRI-JP 2 85871744 85871744 single base substitution C G upstream_gene_variant LIRI-JP 2 85874416 85874416 single base substitution T C downstream_gene_variant LIRI-JP 2 85874416 85874416 single base substitution T C intron_variant LIRI-JP 2 85876818 85876818 single base substitution A G downstream_gene_variant LIRI-JP 2 85877391 85877391 single base substitution G A downstream_gene_variant LUSC-KR 2 85826132 85826132 single base substitution G A upstream_gene_variant LUSC-KR 2 85828014 85828014 single base substitution T G upstream_gene_variant LUSC-KR 2 85832855 85832855 single base substitution C T intron_variant LUSC-KR 2 85833046 85833046 single base substitution T C intron_variant LUSC-KR 2 85834339 85834339 single base substitution C G intron_variant LUSC-KR 2 85834339 85834339 single base substitution C G upstream_gene_variant LUSC-KR 2 85837441 85837441 single base substitution T C intron_variant LUSC-KR 2 85837441 85837441 single base substitution T C upstream_gene_variant LUSC-KR 2 85842126 85842126 single base substitution T C intron_variant LUSC-KR 2 85842126 85842126 single base substitution T C upstream_gene_variant LUSC-KR 2 85846329 85846329 single base substitution G A intron_variant LUSC-KR 2 85846329 85846329 single base substitution G A upstream_gene_variant LUSC-KR 2 85846770 85846770 single base substitution C G intron_variant LUSC-KR 2 85846770 85846770 single base substitution C G upstream_gene_variant LUSC-KR 2 85852667 85852667 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 85852667 85852667 single base substitution G A downstream_gene_variant LUSC-KR 2 85852667 85852667 single base substitution G A exon_variant LUSC-KR 2 85852667 85852667 single base substitution G A synonymous_variant V114V 342G>A LUSC-KR 2 85852667 85852667 single base substitution G A synonymous_variant V192V 576G>A LUSC-KR 2 85852667 85852667 single base substitution G A synonymous_variant V89V 267G>A LUSC-KR 2 85855584 85855584 single base substitution A C downstream_gene_variant LUSC-KR 2 85855584 85855584 single base substitution A C intron_variant LUSC-KR 2 85855972 85855972 single base substitution C G downstream_gene_variant LUSC-KR 2 85855972 85855972 single base substitution C G intron_variant LUSC-KR 2 85857124 85857124 single base substitution A G downstream_gene_variant LUSC-KR 2 85857124 85857124 single base substitution A G intron_variant LUSC-KR 2 85862042 85862042 single base substitution A G intron_variant LUSC-KR 2 85862042 85862042 single base substitution A G upstream_gene_variant LUSC-KR 2 85862106 85862106 single base substitution A G intron_variant LUSC-KR 2 85862106 85862106 single base substitution A G upstream_gene_variant LUSC-KR 2 85871017 85871017 single base substitution C T downstream_gene_variant LUSC-KR 2 85871017 85871017 single base substitution C T intron_variant LUSC-KR 2 85871017 85871017 single base substitution C T upstream_gene_variant LUSC-KR 2 85872285 85872285 single base substitution T A exon_variant LUSC-KR 2 85872285 85872285 single base substitution T A intron_variant LUSC-KR 2 85872418 85872418 single base substitution G T downstream_gene_variant LUSC-KR 2 85872418 85872418 single base substitution G T intron_variant LUSC-KR 2 85874432 85874432 single base substitution T G downstream_gene_variant LUSC-KR 2 85874432 85874432 single base substitution T G intron_variant LUSC-US 2 85826823 85826823 single base substitution C A upstream_gene_variant LUSC-US 2 85850862 85850862 single base substitution C A 3_prime_UTR_variant LUSC-US 2 85850862 85850862 single base substitution C A downstream_gene_variant LUSC-US 2 85850862 85850862 single base substitution C A exon_variant LUSC-US 2 85850862 85850862 single base substitution C A missense_variant P176Q 527C>A LUSC-US 2 85850862 85850862 single base substitution C A missense_variant P73Q 218C>A LUSC-US 2 85850862 85850862 single base substitution C A missense_variant P98Q 293C>A LUSC-US 2 85850862 85850862 single base substitution C A upstream_gene_variant MALY-DE 2 85826845 85826845 single base substitution A G upstream_gene_variant MALY-DE 2 85836668 85836668 single base substitution C T intron_variant MALY-DE 2 85836668 85836668 single base substitution C T upstream_gene_variant MALY-DE 2 85838581 85838581 single base substitution G C exon_variant MALY-DE 2 85838581 85838581 single base substitution G C intron_variant MALY-DE 2 85838581 85838581 single base substitution G C upstream_gene_variant MALY-DE 2 85839350 85839350 single base substitution G T 5_prime_UTR_variant MALY-DE 2 85839350 85839350 single base substitution G T exon_variant MALY-DE 2 85839350 85839350 single base substitution G T intron_variant MALY-DE 2 85839350 85839350 single base substitution G T upstream_gene_variant MALY-DE 2 85839618 85839618 single base substitution G A intron_variant MALY-DE 2 85839618 85839618 single base substitution G A upstream_gene_variant MALY-DE 2 85870877 85870877 single base substitution T A downstream_gene_variant MALY-DE 2 85870877 85870877 single base substitution T A intron_variant MALY-DE 2 85870877 85870877 single base substitution T A upstream_gene_variant MALY-DE 2 85875441 85875441 single base substitution C A downstream_gene_variant MALY-DE 2 85875441 85875441 single base substitution C A intron_variant MALY-DE 2 85880478 85880478 single base substitution T C downstream_gene_variant MELA-AU 2 85825053 85825053 single base substitution G A upstream_gene_variant MELA-AU 2 85827612 85827612 single base substitution C T upstream_gene_variant MELA-AU 2 85828033 85828033 single base substitution A G upstream_gene_variant MELA-AU 2 85828154 85828154 single base substitution G C upstream_gene_variant MELA-AU 2 85829858 85829858 single base substitution C T upstream_gene_variant MELA-AU 2 85829965 85829965 single base substitution G A upstream_gene_variant MELA-AU 2 85829972 85829972 single base substitution G A upstream_gene_variant MELA-AU 2 85829982 85829982 single base substitution C T exon_variant MELA-AU 2 85829989 85829989 single base substitution C T exon_variant MELA-AU 2 85830625 85830625 single base substitution T A intron_variant MELA-AU 2 85831273 85831273 single base substitution G A intron_variant MELA-AU 2 85832341 85832341 single base substitution G A intron_variant MELA-AU 2 85834375 85834375 single base substitution G A intron_variant MELA-AU 2 85834375 85834375 single base substitution G A upstream_gene_variant MELA-AU 2 85834801 85834801 single base substitution G A intron_variant MELA-AU 2 85834801 85834801 single base substitution G A upstream_gene_variant MELA-AU 2 85835164 85835164 single base substitution A C intron_variant MELA-AU 2 85835164 85835164 single base substitution A C upstream_gene_variant MELA-AU 2 85835911 85835912 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 85835911 85835912 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 85836427 85836427 single base substitution G A intron_variant MELA-AU 2 85836427 85836427 single base substitution G A upstream_gene_variant MELA-AU 2 85837230 85837230 single base substitution C T intron_variant MELA-AU 2 85837230 85837230 single base substitution C T upstream_gene_variant MELA-AU 2 85837929 85837929 single base substitution T A intron_variant MELA-AU 2 85837929 85837929 single base substitution T A upstream_gene_variant MELA-AU 2 85838571 85838571 single base substitution C T exon_variant MELA-AU 2 85838571 85838571 single base substitution C T intron_variant MELA-AU 2 85838571 85838571 single base substitution C T upstream_gene_variant MELA-AU 2 85839188 85839188 single base substitution T C intron_variant MELA-AU 2 85839188 85839188 single base substitution T C upstream_gene_variant MELA-AU 2 85839249 85839249 single base substitution G A 5_prime_UTR_variant MELA-AU 2 85839249 85839249 single base substitution G A exon_variant MELA-AU 2 85839249 85839249 single base substitution G A intron_variant MELA-AU 2 85839249 85839249 single base substitution G A upstream_gene_variant MELA-AU 2 85839637 85839637 single base substitution G A intron_variant MELA-AU 2 85839637 85839637 single base substitution G A upstream_gene_variant MELA-AU 2 85839991 85839991 single base substitution C G intron_variant MELA-AU 2 85839991 85839991 single base substitution C G upstream_gene_variant MELA-AU 2 85839991 85839991 single base substitution C T intron_variant MELA-AU 2 85839991 85839991 single base substitution C T upstream_gene_variant MELA-AU 2 85840003 85840003 single base substitution C T intron_variant MELA-AU 2 85840003 85840003 single base substitution C T upstream_gene_variant MELA-AU 2 85840355 85840355 single base substitution G A intron_variant MELA-AU 2 85840355 85840355 single base substitution G A upstream_gene_variant MELA-AU 2 85840797 85840797 single base substitution A C intron_variant MELA-AU 2 85840797 85840797 single base substitution A C upstream_gene_variant MELA-AU 2 85841010 85841010 single base substitution C T intron_variant MELA-AU 2 85841010 85841010 single base substitution C T upstream_gene_variant MELA-AU 2 85842593 85842593 single base substitution C T intron_variant MELA-AU 2 85842593 85842593 single base substitution C T upstream_gene_variant MELA-AU 2 85842778 85842778 single base substitution G A intron_variant MELA-AU 2 85842778 85842778 single base substitution G A upstream_gene_variant MELA-AU 2 85843571 85843571 single base substitution G T exon_variant MELA-AU 2 85843571 85843571 single base substitution G T intron_variant MELA-AU 2 85843571 85843571 single base substitution G T stop_gained E85* 253G>T MELA-AU 2 85843839 85843839 single base substitution C T intron_variant MELA-AU 2 85844023 85844023 single base substitution C T intron_variant MELA-AU 2 85844583 85844583 single base substitution A C intron_variant MELA-AU 2 85844769 85844769 deletion of <=200bp T - intron_variant MELA-AU 2 85845618 85845618 single base substitution G A intron_variant MELA-AU 2 85846543 85846543 single base substitution T C intron_variant MELA-AU 2 85846543 85846543 single base substitution T C upstream_gene_variant MELA-AU 2 85846926 85846926 single base substitution G A intron_variant MELA-AU 2 85846926 85846926 single base substitution G A upstream_gene_variant MELA-AU 2 85846933 85846933 single base substitution C T intron_variant MELA-AU 2 85846933 85846933 single base substitution C T upstream_gene_variant MELA-AU 2 85847476 85847476 single base substitution C T intron_variant MELA-AU 2 85847476 85847476 single base substitution C T upstream_gene_variant MELA-AU 2 85848000 85848000 single base substitution T A intron_variant MELA-AU 2 85848000 85848000 single base substitution T A upstream_gene_variant MELA-AU 2 85848064 85848064 single base substitution C T intron_variant MELA-AU 2 85848064 85848064 single base substitution C T upstream_gene_variant MELA-AU 2 85848678 85848678 single base substitution C T downstream_gene_variant MELA-AU 2 85848678 85848678 single base substitution C T exon_variant MELA-AU 2 85848678 85848678 single base substitution C T intron_variant MELA-AU 2 85848678 85848678 single base substitution C T synonymous_variant L137L 409C>T MELA-AU 2 85848678 85848678 single base substitution C T synonymous_variant L59L 175C>T MELA-AU 2 85848678 85848678 single base substitution C T upstream_gene_variant MELA-AU 2 85849179 85849179 single base substitution G A downstream_gene_variant MELA-AU 2 85849179 85849179 single base substitution G A intron_variant MELA-AU 2 85849179 85849179 single base substitution G A upstream_gene_variant MELA-AU 2 85849249 85849249 single base substitution T A downstream_gene_variant MELA-AU 2 85849249 85849249 single base substitution T A intron_variant MELA-AU 2 85849249 85849249 single base substitution T A upstream_gene_variant MELA-AU 2 85849445 85849445 single base substitution C T downstream_gene_variant MELA-AU 2 85849445 85849445 single base substitution C T intron_variant MELA-AU 2 85849445 85849445 single base substitution C T upstream_gene_variant MELA-AU 2 85849487 85849487 single base substitution C T downstream_gene_variant MELA-AU 2 85849487 85849487 single base substitution C T intron_variant MELA-AU 2 85849487 85849487 single base substitution C T upstream_gene_variant MELA-AU 2 85850007 85850007 single base substitution G T downstream_gene_variant MELA-AU 2 85850007 85850007 single base substitution G T intron_variant MELA-AU 2 85850007 85850007 single base substitution G T upstream_gene_variant MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant SH160SY MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant SH57SY MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant SH82SY MELA-AU 2 85850815 85850816 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 85851033 85851033 single base substitution C T downstream_gene_variant MELA-AU 2 85851033 85851033 single base substitution C T intron_variant MELA-AU 2 85851420 85851420 single base substitution T C downstream_gene_variant MELA-AU 2 85851420 85851420 single base substitution T C intron_variant MELA-AU 2 85852044 85852044 single base substitution C T downstream_gene_variant MELA-AU 2 85852044 85852044 single base substitution C T intron_variant MELA-AU 2 85852327 85852327 single base substitution G A downstream_gene_variant MELA-AU 2 85852327 85852327 single base substitution G A intron_variant MELA-AU 2 85852501 85852501 single base substitution C T downstream_gene_variant MELA-AU 2 85852501 85852501 single base substitution C T intron_variant MELA-AU 2 85852828 85852828 single base substitution G A downstream_gene_variant MELA-AU 2 85852828 85852828 single base substitution G A intron_variant MELA-AU 2 85854342 85854342 single base substitution C T downstream_gene_variant MELA-AU 2 85854342 85854342 single base substitution C T intron_variant MELA-AU 2 85854674 85854674 single base substitution G A downstream_gene_variant MELA-AU 2 85854674 85854674 single base substitution G A intron_variant MELA-AU 2 85855527 85855527 single base substitution C T downstream_gene_variant MELA-AU 2 85855527 85855527 single base substitution C T intron_variant MELA-AU 2 85855652 85855652 single base substitution G A downstream_gene_variant MELA-AU 2 85855652 85855652 single base substitution G A intron_variant MELA-AU 2 85856174 85856175 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 85856174 85856175 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 85857272 85857272 single base substitution C T downstream_gene_variant MELA-AU 2 85857272 85857272 single base substitution C T intron_variant MELA-AU 2 85857825 85857825 single base substitution C T intron_variant MELA-AU 2 85857868 85857868 single base substitution C T exon_variant MELA-AU 2 85857868 85857868 single base substitution C T intron_variant MELA-AU 2 85857868 85857868 single base substitution C T missense_variant R147W 439C>T MELA-AU 2 85857868 85857868 single base substitution C T missense_variant R250W 748C>T MELA-AU 2 85859147 85859147 single base substitution G T intron_variant MELA-AU 2 85859147 85859147 single base substitution G T upstream_gene_variant MELA-AU 2 85859856 85859856 single base substitution C T intron_variant MELA-AU 2 85859856 85859856 single base substitution C T upstream_gene_variant MELA-AU 2 85860281 85860281 single base substitution T C intron_variant MELA-AU 2 85860281 85860281 single base substitution T C upstream_gene_variant MELA-AU 2 85860742 85860742 single base substitution T G intron_variant MELA-AU 2 85860742 85860742 single base substitution T G upstream_gene_variant MELA-AU 2 85862057 85862057 single base substitution C T intron_variant MELA-AU 2 85862057 85862057 single base substitution C T upstream_gene_variant MELA-AU 2 85862405 85862406 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 85862405 85862406 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 85862480 85862480 single base substitution C T intron_variant MELA-AU 2 85862480 85862480 single base substitution C T upstream_gene_variant MELA-AU 2 85863380 85863380 single base substitution C T intron_variant MELA-AU 2 85863380 85863380 single base substitution C T upstream_gene_variant MELA-AU 2 85863936 85863936 single base substitution C T intron_variant MELA-AU 2 85863936 85863936 single base substitution C T upstream_gene_variant MELA-AU 2 85865162 85865162 single base substitution G A intron_variant MELA-AU 2 85865162 85865162 single base substitution G A upstream_gene_variant MELA-AU 2 85865473 85865473 single base substitution C T intron_variant MELA-AU 2 85865473 85865473 single base substitution C T upstream_gene_variant MELA-AU 2 85867249 85867250 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 2 85867249 85867250 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 2 85867249 85867250 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 2 85867769 85867769 single base substitution C T downstream_gene_variant MELA-AU 2 85867769 85867769 single base substitution C T intron_variant MELA-AU 2 85867769 85867769 single base substitution C T upstream_gene_variant MELA-AU 2 85868039 85868039 single base substitution C T downstream_gene_variant MELA-AU 2 85868039 85868039 single base substitution C T intron_variant MELA-AU 2 85868039 85868039 single base substitution C T upstream_gene_variant MELA-AU 2 85869151 85869151 single base substitution G A downstream_gene_variant MELA-AU 2 85869151 85869151 single base substitution G A intron_variant MELA-AU 2 85869151 85869151 single base substitution G A upstream_gene_variant MELA-AU 2 85870440 85870440 single base substitution C T downstream_gene_variant MELA-AU 2 85870440 85870440 single base substitution C T intron_variant MELA-AU 2 85870440 85870440 single base substitution C T upstream_gene_variant MELA-AU 2 85870880 85870880 single base substitution C T downstream_gene_variant MELA-AU 2 85870880 85870880 single base substitution C T intron_variant MELA-AU 2 85870880 85870880 single base substitution C T upstream_gene_variant MELA-AU 2 85871338 85871338 single base substitution C T downstream_gene_variant MELA-AU 2 85871338 85871338 single base substitution C T intron_variant MELA-AU 2 85871338 85871338 single base substitution C T upstream_gene_variant MELA-AU 2 85871558 85871558 single base substitution C T downstream_gene_variant MELA-AU 2 85871558 85871558 single base substitution C T intron_variant MELA-AU 2 85871558 85871558 single base substitution C T upstream_gene_variant MELA-AU 2 85871754 85871754 single base substitution C T downstream_gene_variant MELA-AU 2 85871754 85871754 single base substitution C T intron_variant MELA-AU 2 85871754 85871754 single base substitution C T upstream_gene_variant MELA-AU 2 85872283 85872283 single base substitution C T exon_variant MELA-AU 2 85872283 85872283 single base substitution C T intron_variant MELA-AU 2 85872638 85872638 single base substitution C T downstream_gene_variant MELA-AU 2 85872638 85872638 single base substitution C T intron_variant MELA-AU 2 85872711 85872711 single base substitution T C downstream_gene_variant MELA-AU 2 85872711 85872711 single base substitution T C intron_variant MELA-AU 2 85873877 85873877 single base substitution C T downstream_gene_variant MELA-AU 2 85873877 85873877 single base substitution C T intron_variant MELA-AU 2 85874271 85874271 single base substitution C A downstream_gene_variant MELA-AU 2 85874271 85874271 single base substitution C A intron_variant MELA-AU 2 85875256 85875256 single base substitution C T downstream_gene_variant MELA-AU 2 85875256 85875256 single base substitution C T intron_variant MELA-AU 2 85875797 85875798 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 2 85875797 85875798 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 85875797 85875798 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 85875797 85875798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 85876073 85876073 single base substitution C T 3_prime_UTR_variant MELA-AU 2 85876073 85876073 single base substitution C T downstream_gene_variant MELA-AU 2 85876073 85876073 single base substitution C T exon_variant MELA-AU 2 85876073 85876073 single base substitution C T intron_variant MELA-AU 2 85876348 85876348 single base substitution C T 3_prime_UTR_variant MELA-AU 2 85876348 85876348 single base substitution C T downstream_gene_variant MELA-AU 2 85876348 85876348 single base substitution C T exon_variant MELA-AU 2 85876644 85876644 single base substitution C T downstream_gene_variant MELA-AU 2 85877008 85877008 single base substitution C T downstream_gene_variant MELA-AU 2 85877271 85877271 single base substitution G A downstream_gene_variant MELA-AU 2 85878877 85878877 single base substitution C T downstream_gene_variant MELA-AU 2 85878945 85878945 single base substitution C T downstream_gene_variant MELA-AU 2 85879093 85879093 single base substitution G A downstream_gene_variant MELA-AU 2 85879426 85879426 single base substitution A T downstream_gene_variant MELA-AU 2 85880702 85880702 single base substitution A T downstream_gene_variant MELA-AU 2 85881032 85881033 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 2 85829252 85829252 single base substitution C G upstream_gene_variant ORCA-IN 2 85843376 85843376 single base substitution G T exon_variant ORCA-IN 2 85843376 85843376 single base substitution G T intron_variant ORCA-IN 2 85843376 85843376 single base substitution G T stop_gained E20* 58G>T ORCA-IN 2 85843376 85843376 single base substitution G T upstream_gene_variant ORCA-IN 2 85852613 85852613 single base substitution C A downstream_gene_variant ORCA-IN 2 85852613 85852613 single base substitution C A intron_variant ORCA-IN 2 85864529 85864529 single base substitution C T exon_variant ORCA-IN 2 85864529 85864529 single base substitution C T synonymous_variant I252I 756C>T ORCA-IN 2 85864529 85864529 single base substitution C T synonymous_variant I355I 1065C>T ORCA-IN 2 85864529 85864529 single base substitution C T upstream_gene_variant OV-AU 2 85827353 85827353 single base substitution G A upstream_gene_variant OV-AU 2 85829547 85829547 single base substitution G C upstream_gene_variant OV-AU 2 85829965 85829965 single base substitution G A upstream_gene_variant OV-AU 2 85841466 85841466 single base substitution G T intron_variant OV-AU 2 85841466 85841466 single base substitution G T upstream_gene_variant OV-AU 2 85843932 85843932 single base substitution C G intron_variant OV-AU 2 85849090 85849090 single base substitution C T downstream_gene_variant OV-AU 2 85849090 85849090 single base substitution C T intron_variant OV-AU 2 85849090 85849090 single base substitution C T upstream_gene_variant OV-AU 2 85850680 85850680 single base substitution C G downstream_gene_variant OV-AU 2 85850680 85850680 single base substitution C G intron_variant OV-AU 2 85850680 85850680 single base substitution C G upstream_gene_variant OV-AU 2 85853253 85853253 single base substitution C T downstream_gene_variant OV-AU 2 85853253 85853253 single base substitution C T intron_variant OV-AU 2 85857863 85857863 single base substitution C G exon_variant OV-AU 2 85857863 85857863 single base substitution C G intron_variant OV-AU 2 85857863 85857863 single base substitution C G missense_variant P145R 434C>G OV-AU 2 85857863 85857863 single base substitution C G missense_variant P248R 743C>G OV-AU 2 85861794 85861794 single base substitution G C intron_variant OV-AU 2 85861794 85861794 single base substitution G C upstream_gene_variant OV-AU 2 85870507 85870507 single base substitution G A downstream_gene_variant OV-AU 2 85870507 85870507 single base substitution G A intron_variant OV-AU 2 85870507 85870507 single base substitution G A upstream_gene_variant OV-AU 2 85881071 85881071 single base substitution G A downstream_gene_variant PACA-AU 2 85826213 85826213 single base substitution T A upstream_gene_variant PACA-AU 2 85828397 85828397 single base substitution G A upstream_gene_variant PACA-AU 2 85833638 85833638 single base substitution G A intron_variant PACA-AU 2 85833638 85833638 single base substitution G A upstream_gene_variant PACA-AU 2 85853534 85853534 single base substitution A G downstream_gene_variant PACA-AU 2 85853534 85853534 single base substitution A G intron_variant PACA-AU 2 85861570 85861570 single base substitution G A intron_variant PACA-AU 2 85861570 85861570 single base substitution G A upstream_gene_variant PACA-AU 2 85865807 85865807 single base substitution G A intron_variant PACA-AU 2 85865807 85865807 single base substitution G A upstream_gene_variant PACA-AU 2 85867000 85867000 single base substitution C T downstream_gene_variant PACA-AU 2 85867000 85867000 single base substitution C T intron_variant PACA-AU 2 85867000 85867000 single base substitution C T upstream_gene_variant PACA-AU 2 85868039 85868039 single base substitution C T downstream_gene_variant PACA-AU 2 85868039 85868039 single base substitution C T intron_variant PACA-AU 2 85868039 85868039 single base substitution C T upstream_gene_variant PACA-AU 2 85868101 85868101 single base substitution A T downstream_gene_variant PACA-AU 2 85868101 85868101 single base substitution A T missense_variant E326D 978A>T PACA-AU 2 85868101 85868101 single base substitution A T missense_variant E429D 1287A>T PACA-AU 2 85868101 85868101 single base substitution A T splice_region_variant PACA-AU 2 85868101 85868101 single base substitution A T upstream_gene_variant PACA-AU 2 85880881 85880881 single base substitution C T downstream_gene_variant PACA-CA 2 85825202 85825202 single base substitution C T upstream_gene_variant PACA-CA 2 85843440 85843440 single base substitution C T exon_variant PACA-CA 2 85843440 85843440 single base substitution C T intron_variant PACA-CA 2 85843440 85843440 single base substitution C T missense_variant A41V 122C>T PACA-CA 2 85843518 85843518 single base substitution T C exon_variant PACA-CA 2 85843518 85843518 single base substitution T C intron_variant PACA-CA 2 85843518 85843518 single base substitution T C missense_variant V67A 200T>C PACA-CA 2 85843565 85843565 single base substitution G A exon_variant PACA-CA 2 85843565 85843565 single base substitution G A intron_variant PACA-CA 2 85843565 85843565 single base substitution G A missense_variant E83K 247G>A PACA-CA 2 85845513 85845513 single base substitution C A intron_variant PACA-CA 2 85848763 85848763 single base substitution A T downstream_gene_variant PACA-CA 2 85848763 85848763 single base substitution A T intron_variant PACA-CA 2 85848763 85848763 single base substitution A T upstream_gene_variant PACA-CA 2 85851582 85851582 single base substitution C A downstream_gene_variant PACA-CA 2 85851582 85851582 single base substitution C A intron_variant PACA-CA 2 85855489 85855489 single base substitution C T downstream_gene_variant PACA-CA 2 85855489 85855489 single base substitution C T intron_variant PACA-CA 2 85856911 85856911 single base substitution C T downstream_gene_variant PACA-CA 2 85856911 85856911 single base substitution C T intron_variant PACA-CA 2 85858295 85858295 single base substitution G A intron_variant PACA-CA 2 85858295 85858295 single base substitution G A upstream_gene_variant PACA-CA 2 85860238 85860238 single base substitution C T intron_variant PACA-CA 2 85860238 85860238 single base substitution C T upstream_gene_variant PACA-CA 2 85864610 85864610 single base substitution C T intron_variant PACA-CA 2 85864610 85864610 single base substitution C T upstream_gene_variant PACA-CA 2 85871730 85871730 single base substitution T C downstream_gene_variant PACA-CA 2 85871730 85871730 single base substitution T C intron_variant PACA-CA 2 85871730 85871730 single base substitution T C upstream_gene_variant PACA-CA 2 85876937 85876937 single base substitution G A downstream_gene_variant PAEN-IT 2 85842491 85842491 single base substitution C T intron_variant PAEN-IT 2 85842491 85842491 single base substitution C T upstream_gene_variant PAEN-IT 2 85862578 85862578 single base substitution G A intron_variant PAEN-IT 2 85862578 85862578 single base substitution G A upstream_gene_variant PBCA-DE 2 85844946 85844946 single base substitution G A intron_variant PBCA-DE 2 85857641 85857641 single base substitution C T downstream_gene_variant PBCA-DE 2 85857641 85857641 single base substitution C T intron_variant PBCA-DE 2 85867742 85867742 single base substitution A T downstream_gene_variant PBCA-DE 2 85867742 85867742 single base substitution A T intron_variant PBCA-DE 2 85867742 85867742 single base substitution A T upstream_gene_variant PBCA-DE 2 85867744 85867744 single base substitution T A downstream_gene_variant PBCA-DE 2 85867744 85867744 single base substitution T A intron_variant PBCA-DE 2 85867744 85867744 single base substitution T A upstream_gene_variant PBCA-DE 2 85871104 85871104 single base substitution G T downstream_gene_variant PBCA-DE 2 85871104 85871104 single base substitution G T intron_variant PBCA-DE 2 85871104 85871104 single base substitution G T upstream_gene_variant PBCA-DE 2 85876575 85876575 insertion of <=200bp - A downstream_gene_variant PRAD-CA 2 85833486 85833486 single base substitution A G intron_variant PRAD-CA 2 85843475 85843475 single base substitution G C exon_variant PRAD-CA 2 85843475 85843475 single base substitution G C intron_variant PRAD-CA 2 85843475 85843475 single base substitution G C missense_variant E53Q 157G>C PRAD-CA 2 85845042 85845042 single base substitution T G intron_variant PRAD-CA 2 85867742 85867742 single base substitution A T downstream_gene_variant PRAD-CA 2 85867742 85867742 single base substitution A T intron_variant PRAD-CA 2 85867742 85867742 single base substitution A T upstream_gene_variant PRAD-UK 2 85834340 85834340 single base substitution C T intron_variant PRAD-UK 2 85834340 85834340 single base substitution C T upstream_gene_variant PRAD-UK 2 85834454 85834454 single base substitution C A intron_variant PRAD-UK 2 85834454 85834454 single base substitution C A upstream_gene_variant PRAD-UK 2 85852572 85852572 single base substitution A G downstream_gene_variant PRAD-UK 2 85852572 85852572 single base substitution A G intron_variant PRAD-UK 2 85862415 85862415 single base substitution G A intron_variant PRAD-UK 2 85862415 85862415 single base substitution G A upstream_gene_variant RECA-EU 2 85827153 85827153 single base substitution G A upstream_gene_variant RECA-EU 2 85833004 85833004 single base substitution A G intron_variant RECA-EU 2 85836198 85836198 single base substitution G A intron_variant RECA-EU 2 85836198 85836198 single base substitution G A upstream_gene_variant RECA-EU 2 85850306 85850306 single base substitution T G downstream_gene_variant RECA-EU 2 85850306 85850306 single base substitution T G intron_variant RECA-EU 2 85850306 85850306 single base substitution T G upstream_gene_variant RECA-EU 2 85877887 85877887 single base substitution G T downstream_gene_variant RECA-EU 2 85877889 85877889 single base substitution T A downstream_gene_variant SKCA-BR 2 85827306 85827306 single base substitution T G upstream_gene_variant SKCA-BR 2 85829728 85829728 single base substitution A C upstream_gene_variant SKCA-BR 2 85837883 85837883 single base substitution C T intron_variant SKCA-BR 2 85837883 85837883 single base substitution C T upstream_gene_variant SKCA-BR 2 85839186 85839186 single base substitution C T intron_variant SKCA-BR 2 85839186 85839186 single base substitution C T upstream_gene_variant SKCA-BR 2 85839471 85839471 single base substitution A C exon_variant SKCA-BR 2 85839471 85839471 single base substitution A C intron_variant SKCA-BR 2 85839471 85839471 single base substitution A C missense_variant H8P 23A>C SKCA-BR 2 85839471 85839471 single base substitution A C upstream_gene_variant SKCA-BR 2 85843693 85843693 single base substitution T G intron_variant SKCA-BR 2 85843801 85843803 deletion of <=200bp CTT - intron_variant SKCA-BR 2 85847829 85847829 single base substitution C T intron_variant SKCA-BR 2 85847829 85847829 single base substitution C T upstream_gene_variant SKCA-BR 2 85848451 85848451 single base substitution T G intron_variant SKCA-BR 2 85848451 85848451 single base substitution T G splice_donor_variant SKCA-BR 2 85848451 85848451 single base substitution T G upstream_gene_variant SKCA-BR 2 85855239 85855239 single base substitution C T downstream_gene_variant SKCA-BR 2 85855239 85855239 single base substitution C T intron_variant SKCA-BR 2 85855908 85855908 single base substitution C T downstream_gene_variant SKCA-BR 2 85855908 85855908 single base substitution C T intron_variant SKCA-BR 2 85863937 85863937 single base substitution C T intron_variant SKCA-BR 2 85863937 85863937 single base substitution C T upstream_gene_variant SKCA-BR 2 85874578 85874578 single base substitution G T downstream_gene_variant SKCA-BR 2 85874578 85874578 single base substitution G T intron_variant SKCA-BR 2 85874957 85874957 single base substitution T G downstream_gene_variant SKCA-BR 2 85874957 85874957 single base substitution T G intron_variant SKCA-BR 2 85877355 85877355 single base substitution C T downstream_gene_variant SKCA-BR 2 85879761 85879761 insertion of <=200bp - CA downstream_gene_variant SKCM-US 2 85826257 85826257 single base substitution C T upstream_gene_variant SKCM-US 2 85848678 85848678 single base substitution C T downstream_gene_variant SKCM-US 2 85848678 85848678 single base substitution C T exon_variant SKCM-US 2 85848678 85848678 single base substitution C T intron_variant SKCM-US 2 85848678 85848678 single base substitution C T synonymous_variant L137L 409C>T SKCM-US 2 85848678 85848678 single base substitution C T synonymous_variant L59L 175C>T SKCM-US 2 85848678 85848678 single base substitution C T upstream_gene_variant SKCM-US 2 85850842 85850842 single base substitution C T 3_prime_UTR_variant SKCM-US 2 85850842 85850842 single base substitution C T downstream_gene_variant SKCM-US 2 85850842 85850842 single base substitution C T exon_variant SKCM-US 2 85850842 85850842 single base substitution C T synonymous_variant T169T 507C>T SKCM-US 2 85850842 85850842 single base substitution C T synonymous_variant T66T 198C>T SKCM-US 2 85850842 85850842 single base substitution C T synonymous_variant T91T 273C>T SKCM-US 2 85850842 85850842 single base substitution C T upstream_gene_variant SKCM-US 2 85866352 85866352 single base substitution C T exon_variant SKCM-US 2 85866352 85866352 single base substitution C T synonymous_variant L271L 813C>T SKCM-US 2 85866352 85866352 single base substitution C T synonymous_variant L374L 1122C>T SKCM-US 2 85866352 85866352 single base substitution C T upstream_gene_variant SKCM-US 2 85868235 85868235 single base substitution C T downstream_gene_variant SKCM-US 2 85868235 85868235 single base substitution C T exon_variant SKCM-US 2 85868235 85868235 single base substitution C T missense_variant P371L 1112C>T SKCM-US 2 85868235 85868235 single base substitution C T missense_variant P474L 1421C>T SKCM-US 2 85868235 85868235 single base substitution C T upstream_gene_variant SKCM-US 2 85872198 85872198 single base substitution C T exon_variant SKCM-US 2 85872198 85872198 single base substitution C T intron_variant SKCM-US 2 85872198 85872198 single base substitution C T missense_variant L416F 1246C>T SKCM-US 2 85872198 85872198 single base substitution C T missense_variant L519F 1555C>T SKCM-US 2 85875082 85875082 single base substitution C T downstream_gene_variant SKCM-US 2 85875082 85875082 single base substitution C T exon_variant SKCM-US 2 85875082 85875082 single base substitution C T intron_variant SKCM-US 2 85875082 85875082 single base substitution C T missense_variant T486I 1457C>T SKCM-US 2 85875082 85875082 single base substitution C T synonymous_variant D428D 1284C>T SKCM-US 2 85875082 85875082 single base substitution C T synonymous_variant D531D 1593C>T STAD-US 2 85827121 85827123 deletion of <=200bp GCA - upstream_gene_variant STAD-US 2 85827471 85827471 single base substitution T C upstream_gene_variant STAD-US 2 85829045 85829045 single base substitution G A upstream_gene_variant STAD-US 2 85836155 85836155 single base substitution C T intron_variant STAD-US 2 85836155 85836155 single base substitution C T upstream_gene_variant STAD-US 2 85836566 85836566 single base substitution C T intron_variant STAD-US 2 85836566 85836566 single base substitution C T upstream_gene_variant STAD-US 2 85836595 85836595 single base substitution G C intron_variant STAD-US 2 85836595 85836595 single base substitution G C upstream_gene_variant STAD-US 2 85838877 85838877 single base substitution G A intron_variant STAD-US 2 85838877 85838877 single base substitution G A upstream_gene_variant STAD-US 2 85839180 85839180 single base substitution G A intron_variant STAD-US 2 85839180 85839180 single base substitution G A upstream_gene_variant STAD-US 2 85846392 85846392 single base substitution G A exon_variant STAD-US 2 85846392 85846392 single base substitution G A synonymous_variant P106P 318G>A STAD-US 2 85846392 85846392 single base substitution G A synonymous_variant P28P 84G>A STAD-US 2 85846392 85846392 single base substitution G A upstream_gene_variant STAD-US 2 85848665 85848665 single base substitution T C downstream_gene_variant STAD-US 2 85848665 85848665 single base substitution T C exon_variant STAD-US 2 85848665 85848665 single base substitution T C intron_variant STAD-US 2 85848665 85848665 single base substitution T C synonymous_variant N132N 396T>C STAD-US 2 85848665 85848665 single base substitution T C synonymous_variant N54N 162T>C STAD-US 2 85848665 85848665 single base substitution T C upstream_gene_variant STAD-US 2 85848673 85848673 single base substitution C T downstream_gene_variant STAD-US 2 85848673 85848673 single base substitution C T exon_variant STAD-US 2 85848673 85848673 single base substitution C T intron_variant STAD-US 2 85848673 85848673 single base substitution C T missense_variant A135V 404C>T STAD-US 2 85848673 85848673 single base substitution C T missense_variant A57V 170C>T STAD-US 2 85848673 85848673 single base substitution C T upstream_gene_variant STAD-US 2 85852763 85852763 single base substitution T C 3_prime_UTR_variant STAD-US 2 85852763 85852763 single base substitution T C downstream_gene_variant STAD-US 2 85852763 85852763 single base substitution T C exon_variant STAD-US 2 85852763 85852763 single base substitution T C synonymous_variant I121I 363T>C STAD-US 2 85852763 85852763 single base substitution T C synonymous_variant I224I 672T>C THCA-SA 2 85843329 85843329 insertion of <=200bp - C exon_variant THCA-SA 2 85843329 85843329 insertion of <=200bp - C frameshift_variant R4P? THCA-SA 2 85843329 85843329 insertion of <=200bp - C intron_variant THCA-SA 2 85843329 85843329 insertion of <=200bp - C upstream_gene_variant UCEC-US 2 85826209 85826209 single base substitution G A upstream_gene_variant UCEC-US 2 85826690 85826690 single base substitution G A upstream_gene_variant UCEC-US 2 85827094 85827094 single base substitution G A upstream_gene_variant UCEC-US 2 85828166 85828166 single base substitution G A upstream_gene_variant UCEC-US 2 85836108 85836108 single base substitution C T intron_variant UCEC-US 2 85836108 85836108 single base substitution C T upstream_gene_variant UCEC-US 2 85836600 85836600 single base substitution G A intron_variant UCEC-US 2 85836600 85836600 single base substitution G A upstream_gene_variant UCEC-US 2 85848614 85848614 single base substitution G A exon_variant UCEC-US 2 85848614 85848614 single base substitution G A intron_variant UCEC-US 2 85848614 85848614 single base substitution G A synonymous_variant V115V 345G>A UCEC-US 2 85848614 85848614 single base substitution G A synonymous_variant V37V 111G>A UCEC-US 2 85848614 85848614 single base substitution G A upstream_gene_variant UCEC-US 2 85857881 85857881 single base substitution T C exon_variant UCEC-US 2 85857881 85857881 single base substitution T C intron_variant UCEC-US 2 85857881 85857881 single base substitution T C missense_variant L151P 452T>C UCEC-US 2 85857881 85857881 single base substitution T C missense_variant L254P 761T>C UCEC-US 2 85857895 85857895 single base substitution T C exon_variant UCEC-US 2 85857895 85857895 single base substitution T C intron_variant UCEC-US 2 85857895 85857895 single base substitution T C missense_variant Y156H 466T>C UCEC-US 2 85857895 85857895 single base substitution T C missense_variant Y259H 775T>C UCEC-US 2 85857947 85857947 single base substitution G A exon_variant UCEC-US 2 85857947 85857947 single base substitution G A intron_variant UCEC-US 2 85857947 85857947 single base substitution G A missense_variant R173H 518G>A UCEC-US 2 85857947 85857947 single base substitution G A missense_variant R276H 827G>A UCEC-US 2 85863249 85863249 single base substitution G T exon_variant UCEC-US 2 85863249 85863249 single base substitution G T missense_variant K238N 714G>T UCEC-US 2 85863249 85863249 single base substitution G T missense_variant K341N 1023G>T UCEC-US 2 85863249 85863249 single base substitution G T upstream_gene_variant UCEC-US 2 85868137 85868137 single base substitution C G downstream_gene_variant UCEC-US 2 85868137 85868137 single base substitution C G exon_variant UCEC-US 2 85868137 85868137 single base substitution C G missense_variant F338L 1014C>G UCEC-US 2 85868137 85868137 single base substitution C G missense_variant F441L 1323C>G UCEC-US 2 85868137 85868137 single base substitution C G upstream_gene_variant UCEC-US 2 85868169 85868169 single base substitution T G downstream_gene_variant UCEC-US 2 85868169 85868169 single base substitution T G exon_variant UCEC-US 2 85868169 85868169 single base substitution T G missense_variant F349C 1046T>G UCEC-US 2 85868169 85868169 single base substitution T G missense_variant F452C 1355T>G UCEC-US 2 85868169 85868169 single base substitution T G upstream_gene_variant UCEC-US 2 85872076 85872076 single base substitution T C exon_variant UCEC-US 2 85872076 85872076 single base substitution T C intron_variant UCEC-US 2 85872076 85872076 single base substitution T C missense_variant V375A 1124T>C UCEC-US 2 85872076 85872076 single base substitution T C missense_variant V478A 1433T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand GC8_T COSM148888 c.576G>A p.V192V Substitution - coding silent 2:85625544-85625544 + TCGA-28-5209-01 COSM3408016 c.1007G>A p.G336D Substitution - Missense 2:85636110-85636110 + BD72T COSM5511737 c.748C>T p.R250W Substitution - Missense 2:85630745-85630745 + EGC3 COSM5059097 c.862C>T p.R288* Substitution - Nonsense 2:85630859-85630859 + TCGA-BH-A0EB-01 COSM443317 c.744T>G p.P248P Substitution - coding silent 2:85630741-85630741 + GHE0645 COSM5714649 c.1184T>A p.L395H Substitution - Missense 2:85639291-85639291 + TCGA-D8-A1XQ-01 COSM3840164 c.1235A>G p.Q412R Substitution - Missense 2:85639342-85639342 + TCGA-AZ-4315-01 COSM1409796 c.1013A>C p.K338T Substitution - Missense 2:85636116-85636116 + TCGA-EE-A2GL-06 COSM3583766 c.1122C>T p.L374L Substitution - coding silent 2:85639229-85639229 + BD124T COSM4789619 c.1132G>A p.E378K Substitution - Missense 2:85639239-85639239 + PT46 COSM5928439 c.1207G>A p.D403N Substitution - Missense 2:85639314-85639314 + T3658 COSM4739825 c.927G>A p.K309K Substitution - coding silent 2:85630924-85630924 + PCSI_0284_Pa_P_526 COSM4964494 c.200T>C p.V67A Substitution - Missense 2:85616395-85616395 + T2 COSM3758396 c.30C>T p.R10R Substitution - coding silent 2:85616225-85616225 + SNUH_G45_S1 COSM148888 c.576G>A p.V192V Substitution - coding silent 2:85625544-85625544 + TCGA-BR-8081-01 COSM4096048 c.318G>A p.P106P Substitution - coding silent 2:85619269-85619269 + TCGA-AC-A23H-01 COSM3840162 c.786C>G p.I262M Substitution - Missense 2:85630783-85630783 + TCGA-P5-A5F0-01 COSM4420729 c.211C>T p.R71W Substitution - Missense 2:85616406-85616406 + PD9604a COSM5792699 c.307C>T p.R103C Substitution - Missense 2:85619258-85619258 + 113809 COSM95477 c.1690G>A p.G564R Substitution - Missense 2:85648800-85648800 + ESO-1145 COSM1270090 c.957C>T p.G319G Substitution - coding silent 2:85636060-85636060 + TCGA-AO-A03M-01 COSM3840161 c.681G>C p.L227L Substitution - coding silent 2:85625649-85625649 + TCGA-ER-A19N-06 COSM3583767 c.1421C>T p.P474L Substitution - Missense 2:85641112-85641112 + TCGA-D5-6537-01 COSM3758396 c.30C>T p.R10R Substitution - coding silent 2:85616225-85616225 + TCGA-DK-A1A3-01 COSM419079 c.843G>A p.M281I Substitution - Missense 2:85630840-85630840 + TCGA-AP-A056-01 COSM1023387 c.775T>C p.Y259H Substitution - Missense 2:85630772-85630772 + TCGA-46-3765-01 COSM723016 c.527C>A p.P176Q Substitution - Missense 2:85623739-85623739 + LC_S8 COSM1190720 c.985_986delGC p.A329fs*18 Deletion - Frameshift 2:85636088-85636089 + PTC-70C COSM3758396 c.30C>T p.R10R Substitution - coding silent 2:85616225-85616225 + NCI-H835 COSM2822706 c.494T>G p.L165R Substitution - Missense 2:85623706-85623706 + S39_pre COSM5575078 c.71G>A p.S24N Substitution - Missense 2:85616266-85616266 + CHC2216T COSM4805981 c.367C>T p.L123L Substitution - coding silent 2:85621513-85621513 + TCGA-B5-A11R-01 COSM1023390 c.1323C>G p.F441L Substitution - Missense 2:85641014-85641014 + TCGA-D1-A101-01 COSM1023383 c.345G>A p.V115V Substitution - coding silent 2:85621491-85621491 + T3021 COSM4739824 c.217A>G p.K73E Substitution - Missense 2:85616412-85616412 + TCGA-AM-5821-01 COSM3758397 c.113C>T p.P38L Substitution - Missense 2:85616308-85616308 + CHC2216T COSM4805981 c.367C>T p.L123L Substitution - coding silent 2:85621513-85621513 + CLL059 COSM1291543 c.305G>C p.S102T Substitution - Missense 2:85619256-85619256 + ESCC_45 COSM5630337 c.1478A>G p.K493R Substitution - Missense 2:85644998-85644998 + SC_9007 COSM5566100 c.131G>A p.R44Q Substitution - Missense 2:85616326-85616326 + TCGA-IZ-8195-01 COSM3991487 c.1586T>G p.L529* Substitution - Nonsense 2:85647952-85647952 + TCGA-CG-5726-01 COSM4096051 c.672T>C p.I224I Substitution - coding silent 2:85625640-85625640 + LUAD-S01320 COSM346181 c.1687C>T p.Q563* Substitution - Nonsense 2:85648797-85648797 + 90357 COSM330437 c.1398G>A p.K466K Substitution - coding silent 2:85641089-85641089 + LC_S49 COSM1190719 c.975delG p.W325fs*3 Deletion - Frameshift 2:85636078-85636078 + ESCC_BICR_042T COSM5443793 c.16A>T p.K6* Substitution - Nonsense 2:85616211-85616211 + TCGA-EW-A3U0-01 COSM3840160 c.569C>T p.T190M Substitution - Missense 2:85623781-85623781 + T3064 COSM1632147 c.1427+1G>A p.? Unknown 2:85641119-85641119 + PR-09-5630 COSM248250 c.1520G>A p.G507D Substitution - Missense 2:85645040-85645040 + TCGA-G4-6302-01 COSM3758397 c.113C>T p.P38L Substitution - Missense 2:85616308-85616308 + CHC1763T COSM4789619 c.1132G>A p.E378K Substitution - Missense 2:85639239-85639239 + TCGA-AA-A00N-01 COSM278042 c.1363A>C p.K455Q Substitution - Missense 2:85641054-85641054 + TCGA-D3-A51T-06 COSM3583769 c.1593C>T p.D531D Substitution - coding silent 2:85647959-85647959 + PD9845a COSM5795179 c.453C>T p.H151H Substitution - coding silent 2:85623665-85623665 + Pat_41_B COSM5862927 c.440G>A p.G147D Substitution - Missense 2:85623652-85623652 + PD18749a COSM5780589 c.95G>C p.R32P Substitution - Missense 2:85616290-85616290 + RK051_C01 COSM1632147 c.1427+1G>A p.? Unknown 2:85641119-85641119 + TCGA-B5-A11E-01 COSM1023389 c.1023G>T p.K341N Substitution - Missense 2:85636126-85636126 + TCGA-A5-A0GH-01 COSM1023388 c.827G>A p.R276H Substitution - Missense 2:85630824-85630824 + CPCG0117-F1 COSM4966405 c.157G>C p.E53Q Substitution - Missense 2:85616352-85616352 + TCGA-B5-A0JV-01 COSM1023385 c.496A>G p.N166D Substitution - Missense 2:85623708-85623708 + TCGA-GN-A266-06 COSM3583768 c.1555C>T p.L519F Substitution - Missense 2:85645075-85645075 + OSCC-GB_01010111 COSM4882316 c.58G>T p.E20* Substitution - Nonsense 2:85616253-85616253 + AOCS-001-1-7 COSM4141278 c.743C>G p.P248R Substitution - Missense 2:85630740-85630740 + TCGA-HU-A4H4-01 COSM4096049 c.396T>C p.N132N Substitution - coding silent 2:85621542-85621542 + S02139 COSM5674378 c.341G>A p.S114N Substitution - Missense 2:85621487-85621487 + TCGA-GI-A2C8-01 COSM1483317 c.469G>A p.V157I Substitution - Missense 2:85623681-85623681 + TCGA-EP-A2KA-01 COSM4917517 c.22G>A p.E8K Substitution - Missense 2:85616217-85616217 + TCGA-BS-A0UF-01 COSM1023391 c.1355T>G p.F452C Substitution - Missense 2:85641046-85641046 + TCGA-AG-3898-01 COSM288992 c.1543C>T p.R515W Substitution - Missense 2:85645063-85645063 + YURISA COSM3583766 c.1122C>T p.L374L Substitution - coding silent 2:85639229-85639229 + BD124T COSM5491411 c.570G>A p.T190T Substitution - coding silent 2:85623782-85623782 + PTC_148 COSM5959530 c.11_12insC p.S5fs*2 Insertion - Frameshift 2:85616206-85616207 + TCGA-A6-6781-01 COSM5093927 c.1431T>C p.N477N Substitution - coding silent 2:85644951-85644951 + PD13758a COSM5770615 c.1155G>T p.E385D Substitution - Missense 2:85639262-85639262 + 66 COSM4778068 c.1087C>T p.P363S Substitution - Missense 2:85637428-85637428 + PD18769a COSM5794771 c.268+7G>A p.? Unknown 2:85616470-85616470 + TCGA-EE-A2MD-06 COSM3583764 c.409C>T p.L137L Substitution - coding silent 2:85621555-85621555 + TCGA-A6-2686-01 COSM4096048 c.318G>A p.P106P Substitution - coding silent 2:85619269-85619269 + TCGA-BP-4803-01 COSM3364841 c.1227C>T p.I409I Substitution - coding silent 2:85639334-85639334 + TCGA-D1-A16D-01 COSM1023384 c.397G>T p.A133S Substitution - Missense 2:85621543-85621543 + CSCC-29-T COSM4543545 c.339G>T p.R113S Substitution - Missense 2:85621485-85621485 + LUAD-2GUGK COSM400573 c.52G>C p.E18Q Substitution - Missense 2:85616247-85616247 + PT23_1 COSM5902624 c.1303G>A p.E435K Substitution - Missense 2:85640994-85640994 + ccRCC-64 COSM1665846 c.1646delT p.Q550fs*>16 Deletion - Frameshift 2:85648012-85648012 + TCGA-G4-6321-01 COSM3758396 c.30C>T p.R10R Substitution - coding silent 2:85616225-85616225 + S00035 COSM5656797 c.1427+1delG p.? Unknown 2:85641119-85641119 + TCGA-A8-A0A6-01 COSM3840159 c.482A>C p.H161P Substitution - Missense 2:85623694-85623694 + CHC1763T COSM4789619 c.1132G>A p.E378K Substitution - Missense 2:85639239-85639239 + TCGA-AN-A046-01 COSM3840163 c.863G>A p.R288Q Substitution - Missense 2:85630860-85630860 + TCGA-AX-A05Z-01 COSM1023386 c.761T>C p.L254P Substitution - Missense 2:85630758-85630758 + S39_post COSM5575078 c.71G>A p.S24N Substitution - Missense 2:85616266-85616266 + OSCC-GB_01070111 COSM4889250 c.1065C>T p.I355I Substitution - coding silent 2:85637406-85637406 + 8070202 COSM4389403 c.1287A>T p.E429D Substitution - Missense 2:85640978-85640978 + BD135T COSM5516209 c.1271G>A p.G424D Substitution - Missense 2:85639378-85639378 + CSCC-27-T COSM4460802 c.434-8C>T p.? Unknown 2:85623638-85623638 + TCGA-AP-A056-01 COSM1023392 c.1433T>C p.V478A Substitution - Missense 2:85644953-85644953 + 169 COSM3728564 c.1197C>A p.P399P Substitution - coding silent 2:85639304-85639304 + TCGA-HU-A4G8-01 COSM4096050 c.404C>T p.A135V Substitution - Missense 2:85621550-85621550 + 2206 COSM5010840 c.1638G>T p.E546D Substitution - Missense 2:85648004-85648004 + TCGA-06-0745 COSM2151738 c.299_301delGGA p.R101delR Deletion - In frame 2:85619250-85619252 + TCGA-DA-A1HY-06 COSM3583765 c.507C>T p.T169T Substitution - coding silent 2:85623719-85623719 + ccRCC-64 COSM1659834 c.1647delT p.Q550fs*>16 Deletion - Frameshift 2:85648013-85648013 + T263 COSM4739826 c.1195C>T p.P399S Substitution - Missense 2:85639302-85639302 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654745 2p11.2 611594 2433375|CGAP|BC067273|C/T|non-coding||1835|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E381A c.1142A>C 2 85866372 LUAD A G Missense p.K370E c.1108A>G 2 85866338 CM A G Missense p.Y449C c.1346A>G 2 85868160 HNSC - A Nonsense p.Y134*fs*1 c.401dupA 2 85848670 LUAD C A Missense p.P176Q c.527C>A 2 85850862 LUSC CC TT Missense p.P411F c.1231_1232delinsTT 2 85866461 CM C G Missense p.F441L c.1323C>G 2 85868137 UCEC C T IntronicSNV . c.1563+75C>T 2 85872281 CM C T IntronicSNV . c.434-15C>T 2 85850754 ESCA C T Missense p.P106L c.317C>T 2 85846391 STAD C T Missense p.P474L c.1421C>T 2 85868235 CM C T Missense p.R515W c.1543C>T 2 85872186 COREAD C T Synonymous p.H517H c.1551C>T 2 85872194 STAD C T Synonymous p.I409I c.1227C>T 2 85866457 RCCC C T Synonymous p.L137L c.409C>T 2 85848678 CM C T Synonymous p.L374L c.1122C>T 2 85866352 CM C T Synonymous p.T169T c.507C>T 2 85850842 CM G A 3-UTRSNV . c.1695+9G>A 2 85875937 STAD GAAGCCCACTTTCAC - InFrameDeletion p.P195_K199delPTFTK c.579_593delGAAGCCCACTTTCAC 2 85852670 BLCA G A Missense p.D536N c.1606G>A 2 85875095 CM G A Missense p.G336D c.1007G>A 2 85863233 GBM G A Missense p.M281I c.843G>A 2 85857963 BLCA G A Missense p.R276H c.827G>A 2 85857947 UCEC G A Missense p.V157I c.469G>A 2 85850804 BRCA G A Synonymous p.V115V c.345G>A 2 85848614 UCEC G C 3-UTRSNV . c.1695+2G>C 2 85875930 LUAD G C Missense p.E465D c.1395G>C 2 85868209 LUAD G C Missense p.S102T c.305G>C 2 85846379 CLL G T Missense p.R146L c.437G>T 2 85850772 STAD T C Synonymous p.I224I c.672T>C 2 85852763 STAD T G IntronicSNV . c.339-157T>G 2 85848451 BRCA T G Missense p.I516S c.1547T>G 2 85872190 STAD T G Synonymous p.P248P c.744T>G 2 85857864 BRCA