Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 160187420 160187420 + Nonsense_Mutation SNP C C A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr1:160187420C>A c.1756G>T c.(1756-1758)Gag>Tag p.E586* BLCA 1 160209537 160209537 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr1:160209537G>A c.673C>T c.(673-675)Cgg>Tgg p.R225W BLCA 1 160209785 160209785 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:160209785G>A c.425C>T c.(424-426)tCa>tTa p.S142L BLCA 1 160209813 160209813 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr1:160209813C>A c.397G>T c.(397-399)Gag>Tag p.E133* BLCA 1 160209906 160209906 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 g.chr1:160209906C>T c.304G>A c.(304-306)Gag>Aag p.E102K BLCA 1 160210143 160210143 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr1:160210143G>T c.67C>A c.(67-69)Cca>Aca p.P23T BRCA 1 160195422 160195422 + Missense_Mutation SNP C C G TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr1:160195422C>G c.1102G>C c.(1102-1104)Gag>Cag p.E368Q BRCA 1 160209535 160209535 + Silent SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr1:160209535C>G c.675G>C c.(673-675)cgG>cgC p.R225R BRCA 1 160209851 160209851 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr1:160209851C>T c.359G>A c.(358-360)cGc>cAc p.R120H BRCA 1 160210108 160210108 + Silent SNP C C T TCGA-A1-A0SD-01A-11D-A10Y-09 TCGA-A1-A0SD-10A-01D-A110-09 g.chr1:160210108C>T c.102G>A c.(100-102)gaG>gaA p.E34E BRCA 1 160213762 160213762 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:160213762C>G c.37G>C c.(37-39)Gac>Cac p.D13H CESC 1 160187440 160187440 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr1:160187440G>A c.1736C>T c.(1735-1737)tCc>tTc p.S579F COAD 1 160187476 160187476 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:160187476C>A c.1700G>T c.(1699-1701)gGg>gTg p.G567V COAD 1 160192492 160192492 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:160192492C>A c.1389G>T c.(1387-1389)gaG>gaT p.E463D COAD 1 160192508 160192508 + Missense_Mutation SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:160192508T>C c.1373A>G c.(1372-1374)cAc>cGc p.H458R COAD 1 160201110 160201110 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:160201110C>T c.1047G>A c.(1045-1047)gtG>gtA p.V349V COAD 1 160209671 160209671 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:160209671A>G c.539T>C c.(538-540)gTg>gCg p.V180A COAD 1 160209745 160209745 + Silent SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:160209745G>A c.465C>T c.(463-465)ctC>ctT p.L155L COAD 1 160210013 160210013 + Missense_Mutation SNP C C G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr1:160210013C>G c.197G>C c.(196-198)gGc>gCc p.G66A COAD 1 160210097 160210097 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:160210097C>T c.113G>A c.(112-114)gGc>gAc p.G38D COADREAD 1 160187476 160187476 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:160187476C>A c.1700G>T c.(1699-1701)gGg>gTg p.G567V COADREAD 1 160187498 160187498 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:160187498G>A c.1678C>T c.(1678-1680)Cgc>Tgc p.R560C COADREAD 1 160192492 160192492 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:160192492C>A c.1389G>T c.(1387-1389)gaG>gaT p.E463D COADREAD 1 160192508 160192508 + Missense_Mutation SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:160192508T>C c.1373A>G c.(1372-1374)cAc>cGc p.H458R COADREAD 1 160201110 160201110 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:160201110C>T c.1047G>A c.(1045-1047)gtG>gtA p.V349V COADREAD 1 160209671 160209671 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:160209671A>G c.539T>C c.(538-540)gTg>gCg p.V180A COADREAD 1 160209745 160209745 + Silent SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:160209745G>A c.465C>T c.(463-465)ctC>ctT p.L155L COADREAD 1 160210013 160210013 + Missense_Mutation SNP C C G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr1:160210013C>G c.197G>C c.(196-198)gGc>gCc p.G66A COADREAD 1 160210097 160210097 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:160210097C>T c.113G>A c.(112-114)gGc>gAc p.G38D DLBC 1 160209665 160209665 + Missense_Mutation SNP C C T TCGA-GS-A9TU-01A-11D-A382-10 TCGA-GS-A9TU-10A-01D-A385-10 g.chr1:160209665C>T c.545G>A c.(544-546)cGt>cAt p.R182H ESCA 1 160201124 160201124 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr1:160201124G>T c.1033C>A c.(1033-1035)Cac>Aac p.H345N ESCA 1 160209917 160209917 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:160209917C>T c.293G>A c.(292-294)cGc>cAc p.R98H ESCA 1 160209942 160209942 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:160209942T>C c.268A>G c.(268-270)Aat>Gat p.N90D GBMLGG 1 160188212 160188212 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:160188212G>A c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W GBMLGG 1 160209956 160209956 + Missense_Mutation SNP C C A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr1:160209956C>A c.254G>T c.(253-255)gGt>gTt p.G85V HNSC 1 160209906 160209906 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr1:160209906C>G c.304G>C c.(304-306)Gag>Cag p.E102Q KIPAN 1 160206968 160206968 + Missense_Mutation SNP C C T TCGA-Y8-A895-01A-11D-A35Z-10 TCGA-Y8-A895-10A-01D-A35Z-10 g.chr1:160206968C>T c.916G>A c.(916-918)Gca>Aca p.A306T KIPAN 1 160209814 160209814 + Silent SNP A A G TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr1:160209814A>G c.396T>C c.(394-396)gaT>gaC p.D132D KIRC 1 160209814 160209814 + Silent SNP A A G TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr1:160209814A>G c.396T>C c.(394-396)gaT>gaC p.D132D KIRP 1 160206968 160206968 + Missense_Mutation SNP C C T TCGA-Y8-A895-01A-11D-A35Z-10 TCGA-Y8-A895-10A-01D-A35Z-10 g.chr1:160206968C>T c.916G>A c.(916-918)Gca>Aca p.A306T LAML 1 160209996 160209996 + Missense_Mutation SNP A A G TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 g.chr1:160209996A>G c.214T>C c.(214-216)Tca>Cca p.S72P LGG 1 160188212 160188212 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:160188212G>A c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W LGG 1 160209956 160209956 + Missense_Mutation SNP C C A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr1:160209956C>A c.254G>T c.(253-255)gGt>gTt p.G85V LIHC 1 160192562 160192562 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:160192562A>G c.1319T>C c.(1318-1320)gTc>gCc p.V440A LUAD 1 160187465 160187465 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr1:160187465C>A c.1711G>T c.(1711-1713)Gcg>Tcg p.A571S LUAD 1 160187467 160187467 + Missense_Mutation SNP T T C TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr1:160187467T>C c.1709A>G c.(1708-1710)gAc>gGc p.D570G LUAD 1 160188115 160188115 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr1:160188115C>G c.1676G>C c.(1675-1677)cGg>cCg p.R559P LUAD 1 160192443 160192443 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr1:160192443C>T c.1438G>A c.(1438-1440)Gtg>Atg p.V480M LUAD 1 160201110 160201110 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr1:160201110C>G c.1047G>C c.(1045-1047)gtG>gtC p.V349V LUAD 1 160209657 160209657 + Silent SNP G G A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:160209657G>A c.553C>T c.(553-555)Ctg>Ttg p.L185L LUAD 1 160209659 160209659 + Missense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:160209659C>A c.551G>T c.(550-552)cGc>cTc p.R184L LUAD 1 160209744 160209744 + Missense_Mutation SNP G G A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr1:160209744G>A c.466C>T c.(466-468)Cct>Tct p.P156S LUAD 1 160209851 160209851 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr1:160209851C>A c.359G>T c.(358-360)cGc>cTc p.R120L LUAD 1 160209914 160209914 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:160209914G>C c.296C>G c.(295-297)tCa>tGa p.S99* LUAD 1 160209920 160209920 + Missense_Mutation SNP T T G TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:160209920T>G c.290A>C c.(289-291)gAc>gCc p.D97A LUAD 1 160209950 160209950 + Missense_Mutation SNP T T A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:160209950T>A c.260A>T c.(259-261)tAc>tTc p.Y87F LUAD 1 160210023 160210023 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr1:160210023C>T c.187G>A c.(187-189)Gaa>Aaa p.E63K LUAD 1 160210060 160210060 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:160210060C>A c.150G>T c.(148-150)ttG>ttT p.L50F LUAD 1 160210062 160210062 + Silent SNP A A G TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:160210062A>G c.148T>C c.(148-150)Ttg>Ctg p.L50L LUAD 1 160213786 160213786 + Missense_Mutation SNP C C A TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr1:160213786C>A c.13G>T c.(13-15)Ggg>Tgg p.G5W LUSC 1 160207000 160207000 + Missense_Mutation SNP G G C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:160207000G>C c.884C>G c.(883-885)tCt>tGt p.S295C LUSC 1 160209596 160209596 + Missense_Mutation SNP C C A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr1:160209596C>A c.614G>T c.(613-615)gGc>gTc p.G205V LUSC 1 160209783 160209783 + Nonsense_Mutation SNP C C A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr1:160209783C>A c.427G>T c.(427-429)Gaa>Taa p.E143* PAAD 1 160187443 160187443 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:160187443C>A c.1733G>T c.(1732-1734)aGc>aTc p.S578I PRAD 1 160187426 160187426 + Missense_Mutation SNP C C T TCGA-HC-7817-01B-11D-A29Q-08 TCGA-HC-7817-10A-01D-A29Q-08 g.chr1:160187426C>T c.1750G>A c.(1750-1752)Gac>Aac p.D584N READ 1 160187498 160187498 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:160187498G>A c.1678C>T c.(1678-1680)Cgc>Tgc p.R560C SARC 1 160187383 160187383 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 g.chr1:160187383C>T c.1793G>A c.(1792-1794)tGa>tAa p.*598* SARC 1 160187406 160187406 + Missense_Mutation SNP G G C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 g.chr1:160187406G>C c.1770C>G c.(1768-1770)gaC>gaG p.D590E SKCM 1 160194883 160194883 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:160194883G>A c.1170C>T c.(1168-1170)atC>atT p.I390I SKCM 1 160209837 160209837 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:160209837G>A c.373C>T c.(373-375)Cgt>Tgt p.R125C SKCM 1 160209838 160209838 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:160209838G>A c.372C>T c.(370-372)aaC>aaT p.N124N SKCM 1 160209930 160209930 + Nonsense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr1:160209930G>A c.280C>T c.(280-282)Cga>Tga p.R94*

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 1 160209813 160209813 single base substitution C A downstream_gene_variant BLCA-US 1 160209813 160209813 single base substitution C A exon_variant BLCA-US 1 160209813 160209813 single base substitution C A stop_gained E108* 322G>T BLCA-US 1 160209813 160209813 single base substitution C A stop_gained E133* 397G>T BLCA-US 1 160209813 160209813 single base substitution C A stop_gained E287* 859G>T BLCA-US 1 160209813 160209813 single base substitution C A upstream_gene_variant BLCA-US 1 160253381 160253381 single base substitution G A intron_variant BRCA-EU 1 160180919 160180919 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 160181533 160181533 single base substitution G A downstream_gene_variant BRCA-EU 1 160182625 160182625 single base substitution A G downstream_gene_variant BRCA-EU 1 160182980 160182980 single base substitution C A downstream_gene_variant BRCA-EU 1 160183122 160183122 single base substitution G C downstream_gene_variant BRCA-EU 1 160183264 160183264 single base substitution G A downstream_gene_variant BRCA-EU 1 160183305 160183305 single base substitution G A downstream_gene_variant BRCA-EU 1 160184665 160184665 single base substitution C T downstream_gene_variant BRCA-EU 1 160185519 160185519 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 160185519 160185519 single base substitution G C downstream_gene_variant BRCA-EU 1 160185641 160185641 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 160185641 160185641 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 160189977 160189977 single base substitution C A downstream_gene_variant BRCA-EU 1 160189977 160189977 single base substitution C A intron_variant BRCA-EU 1 160189977 160189977 single base substitution C A upstream_gene_variant BRCA-EU 1 160190265 160190265 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 1 160190265 160190265 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 160190265 160190265 deletion of <=200bp G - exon_variant BRCA-EU 1 160190265 160190265 deletion of <=200bp G - intron_variant BRCA-EU 1 160190265 160190265 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 160191053 160191053 single base substitution C G intron_variant BRCA-EU 1 160191053 160191053 single base substitution C G upstream_gene_variant BRCA-EU 1 160191736 160191736 single base substitution A G intron_variant BRCA-EU 1 160191736 160191736 single base substitution A G upstream_gene_variant BRCA-EU 1 160192001 160192001 single base substitution T C intron_variant BRCA-EU 1 160192001 160192001 single base substitution T C upstream_gene_variant BRCA-EU 1 160192962 160192962 single base substitution C T intron_variant BRCA-EU 1 160192962 160192962 single base substitution C T upstream_gene_variant BRCA-EU 1 160194043 160194043 single base substitution G C intron_variant BRCA-EU 1 160194043 160194043 single base substitution G C upstream_gene_variant BRCA-EU 1 160194440 160194440 single base substitution C T intron_variant BRCA-EU 1 160194440 160194440 single base substitution C T upstream_gene_variant BRCA-EU 1 160194944 160194944 deletion of <=200bp C - intron_variant BRCA-EU 1 160194944 160194944 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 160195463 160195463 single base substitution G C intron_variant BRCA-EU 1 160195463 160195463 single base substitution G C upstream_gene_variant BRCA-EU 1 160196060 160196060 single base substitution G T intron_variant BRCA-EU 1 160196060 160196060 single base substitution G T upstream_gene_variant BRCA-EU 1 160196128 160196128 single base substitution A T intron_variant BRCA-EU 1 160196128 160196128 single base substitution A T upstream_gene_variant BRCA-EU 1 160196478 160196478 single base substitution C A intron_variant BRCA-EU 1 160196478 160196478 single base substitution C A upstream_gene_variant BRCA-EU 1 160196524 160196524 single base substitution C G intron_variant BRCA-EU 1 160196524 160196524 single base substitution C G upstream_gene_variant BRCA-EU 1 160198574 160198574 single base substitution T G intron_variant BRCA-EU 1 160198574 160198574 single base substitution T G upstream_gene_variant BRCA-EU 1 160199085 160199085 single base substitution C G intron_variant BRCA-EU 1 160199085 160199085 single base substitution C G upstream_gene_variant BRCA-EU 1 160199143 160199143 single base substitution T C intron_variant BRCA-EU 1 160199143 160199143 single base substitution T C upstream_gene_variant BRCA-EU 1 160199695 160199695 single base substitution C A intron_variant BRCA-EU 1 160200318 160200318 deletion of <=200bp A - intron_variant BRCA-EU 1 160200599 160200599 single base substitution T C intron_variant BRCA-EU 1 160200791 160200791 single base substitution C T intron_variant BRCA-EU 1 160201408 160201408 deletion of <=200bp A - intron_variant BRCA-EU 1 160201408 160201408 insertion of <=200bp - A intron_variant BRCA-EU 1 160202131 160202131 single base substitution T C intron_variant BRCA-EU 1 160202234 160202234 single base substitution C A intron_variant BRCA-EU 1 160202631 160202631 single base substitution C T intron_variant BRCA-EU 1 160203457 160203457 single base substitution A T intron_variant BRCA-EU 1 160205155 160205155 single base substitution C G downstream_gene_variant BRCA-EU 1 160205155 160205155 single base substitution C G intron_variant BRCA-EU 1 160206292 160206292 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 160206292 160206292 deletion of <=200bp A - intron_variant BRCA-EU 1 160206979 160206979 single base substitution G A downstream_gene_variant BRCA-EU 1 160206979 160206979 single base substitution G A exon_variant BRCA-EU 1 160206979 160206979 single base substitution G A missense_variant A302V 905C>T BRCA-EU 1 160206979 160206979 single base substitution G A missense_variant A456V 1367C>T BRCA-EU 1 160207674 160207674 single base substitution G A downstream_gene_variant BRCA-EU 1 160207674 160207674 single base substitution G A intron_variant BRCA-EU 1 160210400 160210400 single base substitution C G intron_variant BRCA-EU 1 160210400 160210400 single base substitution C G upstream_gene_variant BRCA-EU 1 160210942 160210942 deletion of <=200bp A - intron_variant BRCA-EU 1 160210942 160210942 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 160211342 160211342 single base substitution A G intron_variant BRCA-EU 1 160211342 160211342 single base substitution A G upstream_gene_variant BRCA-EU 1 160212018 160212018 single base substitution G C intron_variant BRCA-EU 1 160212018 160212018 single base substitution G C upstream_gene_variant BRCA-EU 1 160213278 160213278 single base substitution C G intron_variant BRCA-EU 1 160213278 160213278 single base substitution C G upstream_gene_variant BRCA-EU 1 160213655 160213655 single base substitution C G intron_variant BRCA-EU 1 160213655 160213655 single base substitution C G upstream_gene_variant BRCA-EU 1 160213742 160213742 single base substitution C T intron_variant BRCA-EU 1 160213742 160213742 single base substitution C T splice_region_variant BRCA-EU 1 160213742 160213742 single base substitution C T upstream_gene_variant BRCA-EU 1 160214375 160214375 single base substitution C G intron_variant BRCA-EU 1 160215207 160215207 single base substitution C T intron_variant BRCA-EU 1 160215929 160215929 single base substitution C G intron_variant BRCA-EU 1 160216294 160216294 single base substitution G A intron_variant BRCA-EU 1 160216744 160216744 single base substitution G T intron_variant BRCA-EU 1 160216785 160216785 single base substitution A C intron_variant BRCA-EU 1 160217953 160217953 single base substitution C T intron_variant BRCA-EU 1 160218501 160218501 single base substitution A G intron_variant BRCA-EU 1 160219485 160219523 deletion of <=200bp TGAATGTTTTAATAGTTTTACTTAAATTCATCAAAAAAC - intron_variant BRCA-EU 1 160219622 160219622 single base substitution T C intron_variant BRCA-EU 1 160220096 160220096 single base substitution G C intron_variant BRCA-EU 1 160220327 160220327 single base substitution A G intron_variant BRCA-EU 1 160220373 160220373 single base substitution A T intron_variant BRCA-EU 1 160220620 160220620 single base substitution T G intron_variant BRCA-EU 1 160222321 160222321 single base substitution A G intron_variant BRCA-EU 1 160222569 160222569 single base substitution C T intron_variant BRCA-EU 1 160223388 160223388 single base substitution A G intron_variant BRCA-EU 1 160223489 160223489 single base substitution A T intron_variant BRCA-EU 1 160224189 160224189 single base substitution A C intron_variant BRCA-EU 1 160224745 160224745 single base substitution T C intron_variant BRCA-EU 1 160224965 160224965 single base substitution G A intron_variant BRCA-EU 1 160225107 160225107 single base substitution G A intron_variant BRCA-EU 1 160225945 160225945 single base substitution G C intron_variant BRCA-EU 1 160226546 160226546 single base substitution T A intron_variant BRCA-EU 1 160226693 160226693 deletion of <=200bp A - intron_variant BRCA-EU 1 160227059 160227059 single base substitution T A intron_variant BRCA-EU 1 160227060 160227060 single base substitution A T intron_variant BRCA-EU 1 160228387 160228390 deletion of <=200bp TTTA - intron_variant BRCA-EU 1 160228394 160228394 single base substitution A C intron_variant BRCA-EU 1 160228733 160228733 single base substitution C G intron_variant BRCA-EU 1 160229940 160229940 single base substitution G C intron_variant BRCA-EU 1 160231493 160231493 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 160231493 160231493 single base substitution G A intron_variant BRCA-EU 1 160232330 160232330 single base substitution C G intron_variant BRCA-EU 1 160232330 160232330 single base substitution C G upstream_gene_variant BRCA-EU 1 160233237 160233237 single base substitution A G intron_variant BRCA-EU 1 160233237 160233237 single base substitution A G upstream_gene_variant BRCA-EU 1 160233428 160233428 deletion of <=200bp A - intron_variant BRCA-EU 1 160233428 160233428 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 160234030 160234030 single base substitution T C intron_variant BRCA-EU 1 160234030 160234030 single base substitution T C upstream_gene_variant BRCA-EU 1 160235041 160235044 deletion of <=200bp ATTA - intron_variant BRCA-EU 1 160235041 160235044 deletion of <=200bp ATTA - upstream_gene_variant BRCA-EU 1 160235565 160235565 single base substitution G A intron_variant BRCA-EU 1 160235565 160235565 single base substitution G A upstream_gene_variant BRCA-EU 1 160235921 160235921 single base substitution G A intron_variant BRCA-EU 1 160235921 160235921 single base substitution G A upstream_gene_variant BRCA-EU 1 160236538 160236538 single base substitution C A intron_variant BRCA-EU 1 160236538 160236538 single base substitution C A upstream_gene_variant BRCA-EU 1 160239534 160239534 single base substitution G A intron_variant BRCA-EU 1 160240442 160240443 deletion of <=200bp TT - intron_variant BRCA-EU 1 160241038 160241038 single base substitution A C intron_variant BRCA-EU 1 160241949 160241949 single base substitution T G intron_variant BRCA-EU 1 160242014 160242014 single base substitution C G intron_variant BRCA-EU 1 160242918 160242918 single base substitution C T intron_variant BRCA-EU 1 160243046 160243046 single base substitution G A intron_variant BRCA-EU 1 160243103 160243103 single base substitution C T intron_variant BRCA-EU 1 160243661 160243661 single base substitution C T intron_variant BRCA-EU 1 160243993 160243993 single base substitution G T intron_variant BRCA-EU 1 160244137 160244137 single base substitution A G intron_variant BRCA-EU 1 160244277 160244277 single base substitution C T intron_variant BRCA-EU 1 160244286 160244286 single base substitution G T intron_variant BRCA-EU 1 160244381 160244381 single base substitution G A intron_variant BRCA-EU 1 160245236 160245236 single base substitution C G intron_variant BRCA-EU 1 160245496 160245496 single base substitution G C intron_variant BRCA-EU 1 160247710 160247710 single base substitution A C intron_variant BRCA-EU 1 160248911 160248911 single base substitution C G intron_variant BRCA-EU 1 160249235 160249235 deletion of <=200bp G - intron_variant BRCA-EU 1 160252704 160252704 single base substitution G A intron_variant BRCA-EU 1 160252777 160252777 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 160252797 160252797 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 160254773 160254773 single base substitution C G intron_variant BRCA-EU 1 160254971 160254971 single base substitution C A upstream_gene_variant BRCA-EU 1 160255142 160255142 single base substitution G A upstream_gene_variant BRCA-EU 1 160255562 160255562 single base substitution C T upstream_gene_variant BRCA-EU 1 160255692 160255692 single base substitution C G upstream_gene_variant BRCA-EU 1 160256709 160256709 single base substitution A T upstream_gene_variant BRCA-EU 1 160256987 160256987 single base substitution C T upstream_gene_variant BRCA-EU 1 160257315 160257315 single base substitution C T upstream_gene_variant BRCA-EU 1 160257638 160257638 single base substitution G C upstream_gene_variant BRCA-EU 1 160257776 160257776 single base substitution A C upstream_gene_variant BRCA-EU 1 160258770 160258770 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 160259265 160259265 single base substitution C A upstream_gene_variant BRCA-EU 1 160259614 160259614 single base substitution C G upstream_gene_variant BRCA-FR 1 160183264 160183264 single base substitution G A downstream_gene_variant BRCA-FR 1 160214375 160214375 single base substitution C G intron_variant BRCA-FR 1 160221788 160221788 single base substitution A G intron_variant BRCA-FR 1 160235565 160235565 single base substitution G A intron_variant BRCA-FR 1 160235565 160235565 single base substitution G A upstream_gene_variant BRCA-FR 1 160236538 160236538 single base substitution C A intron_variant BRCA-FR 1 160236538 160236538 single base substitution C A upstream_gene_variant BRCA-FR 1 160238063 160238063 single base substitution G A intron_variant BRCA-FR 1 160240521 160240521 single base substitution T G intron_variant BRCA-FR 1 160250093 160250093 single base substitution T C intron_variant BRCA-FR 1 160257638 160257638 single base substitution G C upstream_gene_variant BRCA-UK 1 160182625 160182625 single base substitution A G downstream_gene_variant BRCA-UK 1 160215762 160215762 single base substitution C G intron_variant BRCA-UK 1 160252704 160252704 single base substitution G A intron_variant BRCA-US 1 160183048 160183048 single base substitution G A downstream_gene_variant BRCA-US 1 160195422 160195422 single base substitution C G exon_variant BRCA-US 1 160195422 160195422 single base substitution C G missense_variant E368Q 1102G>C BRCA-US 1 160195422 160195422 single base substitution C G missense_variant E522Q 1564G>C BRCA-US 1 160195422 160195422 single base substitution C G upstream_gene_variant BRCA-US 1 160209535 160209535 single base substitution C G downstream_gene_variant BRCA-US 1 160209535 160209535 single base substitution C G exon_variant BRCA-US 1 160209535 160209535 single base substitution C G synonymous_variant R225R 675G>C BRCA-US 1 160209535 160209535 single base substitution C G synonymous_variant R379R 1137G>C BRCA-US 1 160209535 160209535 single base substitution C G upstream_gene_variant BRCA-US 1 160209851 160209851 single base substitution C T downstream_gene_variant BRCA-US 1 160209851 160209851 single base substitution C T exon_variant BRCA-US 1 160209851 160209851 single base substitution C T missense_variant R120H 359G>A BRCA-US 1 160209851 160209851 single base substitution C T missense_variant R274H 821G>A BRCA-US 1 160209851 160209851 single base substitution C T missense_variant R95H 284G>A BRCA-US 1 160209851 160209851 single base substitution C T upstream_gene_variant BRCA-US 1 160210108 160210108 single base substitution C T exon_variant BRCA-US 1 160210108 160210108 single base substitution C T synonymous_variant E188E 564G>A BRCA-US 1 160210108 160210108 single base substitution C T synonymous_variant E34E 102G>A BRCA-US 1 160210108 160210108 single base substitution C T synonymous_variant E9E 27G>A BRCA-US 1 160210108 160210108 single base substitution C T upstream_gene_variant BRCA-US 1 160213762 160213762 single base substitution C G exon_variant BRCA-US 1 160213762 160213762 single base substitution C G intron_variant BRCA-US 1 160213762 160213762 single base substitution C G missense_variant D13H 37G>C BRCA-US 1 160213762 160213762 single base substitution C G missense_variant D167H 499G>C BRCA-US 1 160213762 160213762 single base substitution C G upstream_gene_variant BRCA-US 1 160251960 160251960 single base substitution T C missense_variant K8E 22A>G BRCA-US 1 160252800 160252800 single base substitution A C 5_prime_UTR_variant BTCA-JP 1 160181493 160181493 single base substitution C G downstream_gene_variant BTCA-JP 1 160188012 160188012 single base substitution G A downstream_gene_variant BTCA-JP 1 160188012 160188012 single base substitution G A exon_variant BTCA-JP 1 160188012 160188012 single base substitution G A intron_variant BTCA-JP 1 160192539 160192539 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 160192539 160192539 single base substitution C T exon_variant BTCA-JP 1 160192539 160192539 single base substitution C T missense_variant E22K 64G>A BTCA-JP 1 160192539 160192539 single base substitution C T missense_variant E448K 1342G>A BTCA-JP 1 160192539 160192539 single base substitution C T missense_variant E602K 1804G>A BTCA-JP 1 160192539 160192539 single base substitution C T upstream_gene_variant BTCA-JP 1 160194944 160194944 deletion of <=200bp C - intron_variant BTCA-JP 1 160194944 160194944 deletion of <=200bp C - upstream_gene_variant BTCA-JP 1 160194944 160194944 insertion of <=200bp - C intron_variant BTCA-JP 1 160194944 160194944 insertion of <=200bp - C upstream_gene_variant BTCA-JP 1 160208624 160208624 single base substitution T G downstream_gene_variant BTCA-JP 1 160208624 160208624 single base substitution T G exon_variant BTCA-JP 1 160208624 160208624 single base substitution T G intron_variant BTCA-JP 1 160208661 160208661 single base substitution T A downstream_gene_variant BTCA-JP 1 160208661 160208661 single base substitution T A exon_variant BTCA-JP 1 160208661 160208661 single base substitution T A intron_variant CESC-US 1 160187440 160187440 single base substitution G A 3_prime_UTR_variant CESC-US 1 160187440 160187440 single base substitution G A downstream_gene_variant CESC-US 1 160187440 160187440 single base substitution G A exon_variant CESC-US 1 160187440 160187440 single base substitution G A intron_variant CESC-US 1 160187440 160187440 single base substitution G A missense_variant S579F 1736C>T CESC-US 1 160187440 160187440 single base substitution G A missense_variant S62F 185C>T CESC-US 1 160187440 160187440 single base substitution G A missense_variant S733F 2198C>T CESC-US 1 160188831 160188831 single base substitution G A downstream_gene_variant CESC-US 1 160188831 160188831 single base substitution G A exon_variant CESC-US 1 160188831 160188831 single base substitution G A intron_variant CESC-US 1 160188831 160188831 single base substitution G A upstream_gene_variant CESC-US 1 160208574 160208574 single base substitution G C downstream_gene_variant CESC-US 1 160208574 160208574 single base substitution G C exon_variant CESC-US 1 160208574 160208574 single base substitution G C intron_variant CESC-US 1 160249105 160249105 single base substitution G C intron_variant CESC-US 1 160249182 160249182 deletion of <=200bp G - intron_variant CLLE-ES 1 160210197 160210197 single base substitution A C intron_variant CLLE-ES 1 160210197 160210197 single base substitution A C upstream_gene_variant CLLE-ES 1 160219456 160219456 single base substitution T C intron_variant COAD-US 1 160187476 160187476 single base substitution C A 3_prime_UTR_variant COAD-US 1 160187476 160187476 single base substitution C A downstream_gene_variant COAD-US 1 160187476 160187476 single base substitution C A exon_variant COAD-US 1 160187476 160187476 single base substitution C A intron_variant COAD-US 1 160187476 160187476 single base substitution C A missense_variant G50V 149G>T COAD-US 1 160187476 160187476 single base substitution C A missense_variant G567V 1700G>T COAD-US 1 160187476 160187476 single base substitution C A missense_variant G721V 2162G>T COAD-US 1 160201110 160201110 single base substitution C T exon_variant COAD-US 1 160201110 160201110 single base substitution C T synonymous_variant V349V 1047G>A COAD-US 1 160201110 160201110 single base substitution C T synonymous_variant V503V 1509G>A COAD-US 1 160251976 160251976 single base substitution C T synonymous_variant S2S 6G>A COAD-US 1 160253413 160253413 single base substitution G A intron_variant COAD-US 1 160254899 160254899 single base substitution C T 5_prime_UTR_variant COCA-CN 1 160181318 160181318 single base substitution G A downstream_gene_variant COCA-CN 1 160183062 160183062 single base substitution G A downstream_gene_variant COCA-CN 1 160209934 160209934 single base substitution T C downstream_gene_variant COCA-CN 1 160209934 160209934 single base substitution T C exon_variant COCA-CN 1 160209934 160209934 single base substitution T C synonymous_variant E246E 738A>G COCA-CN 1 160209934 160209934 single base substitution T C synonymous_variant E67E 201A>G COCA-CN 1 160209934 160209934 single base substitution T C synonymous_variant E92E 276A>G COCA-CN 1 160209934 160209934 single base substitution T C upstream_gene_variant COCA-CN 1 160249921 160249921 single base substitution G T missense_variant P90H 269C>A ESAD-UK 1 160181072 160181072 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 160183632 160183632 single base substitution C G downstream_gene_variant ESAD-UK 1 160185221 160185221 single base substitution G A downstream_gene_variant ESAD-UK 1 160185304 160185304 single base substitution C G downstream_gene_variant ESAD-UK 1 160186722 160186722 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 160186722 160186722 single base substitution G A downstream_gene_variant ESAD-UK 1 160186722 160186722 single base substitution G A intron_variant ESAD-UK 1 160192779 160192779 single base substitution C T intron_variant ESAD-UK 1 160192779 160192779 single base substitution C T upstream_gene_variant ESAD-UK 1 160193613 160193613 single base substitution G A intron_variant ESAD-UK 1 160193613 160193613 single base substitution G A upstream_gene_variant ESAD-UK 1 160197387 160197387 single base substitution C G intron_variant ESAD-UK 1 160197387 160197387 single base substitution C G upstream_gene_variant ESAD-UK 1 160198272 160198272 single base substitution C A intron_variant ESAD-UK 1 160198272 160198272 single base substitution C A upstream_gene_variant ESAD-UK 1 160201408 160201408 single base substitution A G intron_variant ESAD-UK 1 160203834 160203834 single base substitution G A intron_variant ESAD-UK 1 160205438 160205438 single base substitution C T downstream_gene_variant ESAD-UK 1 160205438 160205438 single base substitution C T intron_variant ESAD-UK 1 160210634 160210634 single base substitution A G intron_variant ESAD-UK 1 160210634 160210634 single base substitution A G upstream_gene_variant ESAD-UK 1 160212382 160212382 single base substitution C G intron_variant ESAD-UK 1 160212382 160212382 single base substitution C G upstream_gene_variant ESAD-UK 1 160214553 160214553 single base substitution G A intron_variant ESAD-UK 1 160216147 160216147 single base substitution T G intron_variant ESAD-UK 1 160218051 160218051 single base substitution A G intron_variant ESAD-UK 1 160218244 160218244 single base substitution G C intron_variant ESAD-UK 1 160219452 160219452 single base substitution T G intron_variant ESAD-UK 1 160220648 160220648 single base substitution T A intron_variant ESAD-UK 1 160220841 160220841 single base substitution C T intron_variant ESAD-UK 1 160222846 160222846 single base substitution A C intron_variant ESAD-UK 1 160223565 160223565 single base substitution G A intron_variant ESAD-UK 1 160223667 160223667 deletion of <=200bp A - intron_variant ESAD-UK 1 160230187 160230187 single base substitution T C intron_variant ESAD-UK 1 160232030 160232030 deletion of <=200bp G - 5_prime_UTR_variant ESAD-UK 1 160232030 160232030 deletion of <=200bp G - intron_variant ESAD-UK 1 160232030 160232030 deletion of <=200bp G - upstream_gene_variant ESAD-UK 1 160233392 160233392 single base substitution C T intron_variant ESAD-UK 1 160233392 160233392 single base substitution C T upstream_gene_variant ESAD-UK 1 160233850 160233850 insertion of <=200bp - T intron_variant ESAD-UK 1 160233850 160233850 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 160234638 160234638 single base substitution G A intron_variant ESAD-UK 1 160234638 160234638 single base substitution G A upstream_gene_variant ESAD-UK 1 160235739 160235739 single base substitution C T intron_variant ESAD-UK 1 160235739 160235739 single base substitution C T upstream_gene_variant ESAD-UK 1 160236167 160236167 single base substitution C T intron_variant ESAD-UK 1 160236167 160236167 single base substitution C T upstream_gene_variant ESAD-UK 1 160238664 160238664 single base substitution C T intron_variant ESAD-UK 1 160239198 160239199 deletion of <=200bp AT - intron_variant ESAD-UK 1 160239198 160239200 deletion of <=200bp ATT - intron_variant ESAD-UK 1 160240329 160240329 single base substitution G A intron_variant ESAD-UK 1 160240755 160240755 insertion of <=200bp - T intron_variant ESAD-UK 1 160241696 160241696 single base substitution T A intron_variant ESAD-UK 1 160242477 160242477 single base substitution T C intron_variant ESAD-UK 1 160243557 160243557 single base substitution C T intron_variant ESAD-UK 1 160245252 160245252 single base substitution C T intron_variant ESAD-UK 1 160253141 160253141 single base substitution A G intron_variant ESAD-UK 1 160253160 160253160 single base substitution A C intron_variant ESAD-UK 1 160253413 160253413 single base substitution G A intron_variant ESAD-UK 1 160257262 160257262 single base substitution C A upstream_gene_variant ESAD-UK 1 160259265 160259265 single base substitution C G upstream_gene_variant ESCA-CN 1 160210105 160210105 single base substitution T C exon_variant ESCA-CN 1 160210105 160210105 single base substitution T C synonymous_variant T10T 30A>G ESCA-CN 1 160210105 160210105 single base substitution T C synonymous_variant T189T 567A>G ESCA-CN 1 160210105 160210105 single base substitution T C synonymous_variant T35T 105A>G ESCA-CN 1 160210105 160210105 single base substitution T C upstream_gene_variant GBM-US 1 160250017 160250017 single base substitution C T missense_variant S58N 173G>A GBM-US 1 160254853 160254853 single base substitution A G 5_prime_UTR_variant KIRC-US 1 160209814 160209814 single base substitution A G downstream_gene_variant KIRC-US 1 160209814 160209814 single base substitution A G exon_variant KIRC-US 1 160209814 160209814 single base substitution A G synonymous_variant D107D 321T>C KIRC-US 1 160209814 160209814 single base substitution A G synonymous_variant D132D 396T>C KIRC-US 1 160209814 160209814 single base substitution A G synonymous_variant D286D 858T>C KIRC-US 1 160209814 160209814 single base substitution A G upstream_gene_variant KIRP-US 1 160181403 160181403 single base substitution C A downstream_gene_variant KIRP-US 1 160253370 160253370 single base substitution C T intron_variant LAML-KR 1 160188807 160188807 single base substitution G T downstream_gene_variant LAML-KR 1 160188807 160188807 single base substitution G T exon_variant LAML-KR 1 160188807 160188807 single base substitution G T intron_variant LAML-KR 1 160188807 160188807 single base substitution G T upstream_gene_variant LAML-KR 1 160219213 160219213 single base substitution T C intron_variant LAML-KR 1 160252696 160252696 single base substitution T G intron_variant LGG-US 1 160181386 160181386 single base substitution G T downstream_gene_variant LGG-US 1 160209956 160209956 single base substitution C A downstream_gene_variant LGG-US 1 160209956 160209956 single base substitution C A exon_variant LGG-US 1 160209956 160209956 single base substitution C A missense_variant G239V 716G>T LGG-US 1 160209956 160209956 single base substitution C A missense_variant G60V 179G>T LGG-US 1 160209956 160209956 single base substitution C A missense_variant G85V 254G>T LGG-US 1 160209956 160209956 single base substitution C A upstream_gene_variant LICA-FR 1 160183232 160183232 insertion of <=200bp - TCCGGCAGC downstream_gene_variant LICA-FR 1 160198986 160198986 single base substitution T C intron_variant LICA-FR 1 160198986 160198986 single base substitution T C upstream_gene_variant LICA-FR 1 160199003 160199003 single base substitution T G intron_variant LICA-FR 1 160199003 160199003 single base substitution T G upstream_gene_variant LICA-FR 1 160252819 160252819 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 1 160253234 160253234 single base substitution C T intron_variant LINC-JP 1 160186808 160186808 single base substitution A T 3_prime_UTR_variant LINC-JP 1 160186808 160186808 single base substitution A T downstream_gene_variant LINC-JP 1 160186808 160186808 single base substitution A T intron_variant LINC-JP 1 160187126 160187126 single base substitution G T 3_prime_UTR_variant LINC-JP 1 160187126 160187126 single base substitution G T downstream_gene_variant LINC-JP 1 160187126 160187126 single base substitution G T intron_variant LINC-JP 1 160188161 160188161 single base substitution T C 3_prime_UTR_variant LINC-JP 1 160188161 160188161 single base substitution T C downstream_gene_variant LINC-JP 1 160188161 160188161 single base substitution T C exon_variant LINC-JP 1 160188161 160188161 single base substitution T C intron_variant LINC-JP 1 160188161 160188161 single base substitution T C missense_variant M27V 79A>G LINC-JP 1 160188161 160188161 single base substitution T C missense_variant M544V 1630A>G LINC-JP 1 160188161 160188161 single base substitution T C missense_variant M698V 2092A>G LINC-JP 1 160189235 160189235 single base substitution T C downstream_gene_variant LINC-JP 1 160189235 160189235 single base substitution T C exon_variant LINC-JP 1 160189235 160189235 single base substitution T C intron_variant LINC-JP 1 160189235 160189235 single base substitution T C upstream_gene_variant LINC-JP 1 160190637 160190637 single base substitution G T downstream_gene_variant LINC-JP 1 160190637 160190637 single base substitution G T exon_variant LINC-JP 1 160190637 160190637 single base substitution G T intron_variant LINC-JP 1 160190637 160190637 single base substitution G T upstream_gene_variant LINC-JP 1 160202909 160202909 single base substitution T C intron_variant LINC-JP 1 160206292 160206292 deletion of <=200bp A - downstream_gene_variant LINC-JP 1 160206292 160206292 deletion of <=200bp A - intron_variant LINC-JP 1 160207100 160207100 single base substitution A G downstream_gene_variant LINC-JP 1 160207100 160207100 single base substitution A G intron_variant LINC-JP 1 160209539 160209539 single base substitution C T downstream_gene_variant LINC-JP 1 160209539 160209539 single base substitution C T exon_variant LINC-JP 1 160209539 160209539 single base substitution C T missense_variant R224Q 671G>A LINC-JP 1 160209539 160209539 single base substitution C T missense_variant R378Q 1133G>A LINC-JP 1 160209539 160209539 single base substitution C T upstream_gene_variant LINC-JP 1 160209899 160209899 single base substitution T G downstream_gene_variant LINC-JP 1 160209899 160209899 single base substitution T G exon_variant LINC-JP 1 160209899 160209899 single base substitution T G missense_variant E104A 311A>C LINC-JP 1 160209899 160209899 single base substitution T G missense_variant E258A 773A>C LINC-JP 1 160209899 160209899 single base substitution T G missense_variant E79A 236A>C LINC-JP 1 160209899 160209899 single base substitution T G upstream_gene_variant LINC-JP 1 160218574 160218574 single base substitution T A intron_variant LINC-JP 1 160219043 160219043 single base substitution T C intron_variant LINC-JP 1 160236533 160236533 single base substitution G C intron_variant LINC-JP 1 160236533 160236533 single base substitution G C upstream_gene_variant LINC-JP 1 160247630 160247630 single base substitution T C intron_variant LINC-JP 1 160247855 160247855 single base substitution T A intron_variant LINC-JP 1 160252662 160252662 single base substitution A C intron_variant LINC-JP 1 160252879 160252879 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 1 160257200 160257200 single base substitution A C upstream_gene_variant LIRI-JP 1 160182959 160182959 single base substitution A G downstream_gene_variant LIRI-JP 1 160185079 160185079 single base substitution G T downstream_gene_variant LIRI-JP 1 160185179 160185179 single base substitution T G downstream_gene_variant LIRI-JP 1 160185718 160185718 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 160185718 160185718 single base substitution T C downstream_gene_variant LIRI-JP 1 160187546 160187546 single base substitution A C downstream_gene_variant LIRI-JP 1 160187546 160187546 single base substitution A C intron_variant LIRI-JP 1 160187752 160187752 single base substitution A G downstream_gene_variant LIRI-JP 1 160187752 160187752 single base substitution A G exon_variant LIRI-JP 1 160187752 160187752 single base substitution A G intron_variant LIRI-JP 1 160194149 160194149 single base substitution C G intron_variant LIRI-JP 1 160194149 160194149 single base substitution C G upstream_gene_variant LIRI-JP 1 160194185 160194185 single base substitution C T intron_variant LIRI-JP 1 160194185 160194185 single base substitution C T upstream_gene_variant LIRI-JP 1 160195549 160195549 single base substitution G A intron_variant LIRI-JP 1 160195549 160195549 single base substitution G A upstream_gene_variant LIRI-JP 1 160195608 160195608 deletion of <=200bp C - intron_variant LIRI-JP 1 160195608 160195608 deletion of <=200bp C - upstream_gene_variant LIRI-JP 1 160196400 160196400 single base substitution T G intron_variant LIRI-JP 1 160196400 160196400 single base substitution T G upstream_gene_variant LIRI-JP 1 160197649 160197649 single base substitution T A intron_variant LIRI-JP 1 160197649 160197649 single base substitution T A upstream_gene_variant LIRI-JP 1 160197689 160197689 single base substitution T C intron_variant LIRI-JP 1 160197689 160197689 single base substitution T C upstream_gene_variant LIRI-JP 1 160197762 160197762 single base substitution G A intron_variant LIRI-JP 1 160197762 160197762 single base substitution G A upstream_gene_variant LIRI-JP 1 160201876 160201876 single base substitution G A intron_variant LIRI-JP 1 160202079 160202079 single base substitution T C intron_variant LIRI-JP 1 160203858 160203858 single base substitution G T intron_variant LIRI-JP 1 160204055 160204055 single base substitution G A downstream_gene_variant LIRI-JP 1 160204055 160204055 single base substitution G A intron_variant LIRI-JP 1 160207638 160207638 single base substitution T C downstream_gene_variant LIRI-JP 1 160207638 160207638 single base substitution T C intron_variant LIRI-JP 1 160212533 160212533 single base substitution T A intron_variant LIRI-JP 1 160212533 160212533 single base substitution T A upstream_gene_variant LIRI-JP 1 160212940 160212940 single base substitution G C intron_variant LIRI-JP 1 160212940 160212940 single base substitution G C upstream_gene_variant LIRI-JP 1 160215830 160215830 single base substitution A T intron_variant LIRI-JP 1 160216097 160216097 single base substitution C T intron_variant LIRI-JP 1 160219125 160219125 single base substitution A C intron_variant LIRI-JP 1 160219605 160219605 single base substitution A G intron_variant LIRI-JP 1 160221839 160221840 deletion of <=200bp AC - intron_variant LIRI-JP 1 160227554 160227554 single base substitution T G intron_variant LIRI-JP 1 160229715 160229715 single base substitution G A intron_variant LIRI-JP 1 160231758 160231758 single base substitution C A intron_variant LIRI-JP 1 160231758 160231758 single base substitution C A upstream_gene_variant LIRI-JP 1 160231809 160231809 single base substitution T G intron_variant LIRI-JP 1 160231809 160231809 single base substitution T G upstream_gene_variant LIRI-JP 1 160232737 160232737 single base substitution T G intron_variant LIRI-JP 1 160232737 160232737 single base substitution T G upstream_gene_variant LIRI-JP 1 160233146 160233146 single base substitution G T intron_variant LIRI-JP 1 160233146 160233146 single base substitution G T upstream_gene_variant LIRI-JP 1 160233920 160233920 single base substitution G A intron_variant LIRI-JP 1 160233920 160233920 single base substitution G A upstream_gene_variant LIRI-JP 1 160235105 160235105 single base substitution A C intron_variant LIRI-JP 1 160235105 160235105 single base substitution A C upstream_gene_variant LIRI-JP 1 160235650 160235650 single base substitution T A intron_variant LIRI-JP 1 160235650 160235650 single base substitution T A upstream_gene_variant LIRI-JP 1 160235727 160235727 single base substitution C T intron_variant LIRI-JP 1 160235727 160235727 single base substitution C T upstream_gene_variant LIRI-JP 1 160236593 160236593 single base substitution A G intron_variant LIRI-JP 1 160236593 160236593 single base substitution A G upstream_gene_variant LIRI-JP 1 160237622 160237622 single base substitution A C intron_variant LIRI-JP 1 160240899 160240899 single base substitution T G intron_variant LIRI-JP 1 160244798 160244798 single base substitution T C intron_variant LIRI-JP 1 160245013 160245013 single base substitution T C intron_variant LIRI-JP 1 160247457 160247457 single base substitution A G intron_variant LIRI-JP 1 160247994 160247997 deletion of <=200bp TAAT - intron_variant LIRI-JP 1 160249033 160249033 single base substitution T C intron_variant LIRI-JP 1 160250757 160250757 single base substitution T C intron_variant LIRI-JP 1 160251533 160251533 single base substitution T C intron_variant LIRI-JP 1 160253514 160253514 single base substitution G T intron_variant LIRI-JP 1 160254550 160254550 insertion of <=200bp - T intron_variant LIRI-JP 1 160255433 160255433 single base substitution C A upstream_gene_variant LIRI-JP 1 160257177 160257177 single base substitution A C upstream_gene_variant LIRI-JP 1 160258641 160258641 insertion of <=200bp - A upstream_gene_variant LUSC-KR 1 160181229 160181229 single base substitution T A downstream_gene_variant LUSC-KR 1 160183051 160183051 single base substitution C T downstream_gene_variant LUSC-KR 1 160194355 160194355 single base substitution A G intron_variant LUSC-KR 1 160194355 160194355 single base substitution A G upstream_gene_variant LUSC-KR 1 160207398 160207398 single base substitution C A downstream_gene_variant LUSC-KR 1 160207398 160207398 single base substitution C A intron_variant LUSC-KR 1 160209860 160209860 single base substitution C A downstream_gene_variant LUSC-KR 1 160209860 160209860 single base substitution C A exon_variant LUSC-KR 1 160209860 160209860 single base substitution C A missense_variant R117L 350G>T LUSC-KR 1 160209860 160209860 single base substitution C A missense_variant R271L 812G>T LUSC-KR 1 160209860 160209860 single base substitution C A missense_variant R92L 275G>T LUSC-KR 1 160209860 160209860 single base substitution C A upstream_gene_variant LUSC-KR 1 160211677 160211677 single base substitution G A intron_variant LUSC-KR 1 160211677 160211677 single base substitution G A upstream_gene_variant LUSC-KR 1 160218339 160218339 single base substitution C A intron_variant LUSC-KR 1 160220876 160220876 single base substitution C G intron_variant LUSC-KR 1 160220907 160220907 single base substitution G C intron_variant LUSC-KR 1 160225548 160225548 single base substitution T C intron_variant LUSC-KR 1 160231409 160231409 single base substitution C G 5_prime_UTR_variant LUSC-KR 1 160231409 160231409 single base substitution C G intron_variant LUSC-KR 1 160233377 160233377 single base substitution G C intron_variant LUSC-KR 1 160233377 160233377 single base substitution G C upstream_gene_variant LUSC-KR 1 160233448 160233448 single base substitution T C intron_variant LUSC-KR 1 160233448 160233448 single base substitution T C upstream_gene_variant LUSC-KR 1 160236470 160236470 single base substitution T A intron_variant LUSC-KR 1 160236470 160236470 single base substitution T A upstream_gene_variant LUSC-KR 1 160242660 160242660 single base substitution G A intron_variant LUSC-KR 1 160248764 160248764 single base substitution C G intron_variant LUSC-KR 1 160249391 160249391 single base substitution T A intron_variant LUSC-KR 1 160249799 160249799 single base substitution T A intron_variant LUSC-KR 1 160251792 160251792 single base substitution A G intron_variant LUSC-KR 1 160257559 160257559 single base substitution C G upstream_gene_variant LUSC-US 1 160182942 160182942 single base substitution G A downstream_gene_variant LUSC-US 1 160207000 160207000 single base substitution G C downstream_gene_variant LUSC-US 1 160207000 160207000 single base substitution G C exon_variant LUSC-US 1 160207000 160207000 single base substitution G C missense_variant S295C 884C>G LUSC-US 1 160207000 160207000 single base substitution G C missense_variant S449C 1346C>G LUSC-US 1 160209596 160209596 single base substitution C A downstream_gene_variant LUSC-US 1 160209596 160209596 single base substitution C A exon_variant LUSC-US 1 160209596 160209596 single base substitution C A missense_variant G205V 614G>T LUSC-US 1 160209596 160209596 single base substitution C A missense_variant G359V 1076G>T LUSC-US 1 160209596 160209596 single base substitution C A upstream_gene_variant LUSC-US 1 160209783 160209783 single base substitution C A downstream_gene_variant LUSC-US 1 160209783 160209783 single base substitution C A exon_variant LUSC-US 1 160209783 160209783 single base substitution C A stop_gained E118* 352G>T LUSC-US 1 160209783 160209783 single base substitution C A stop_gained E143* 427G>T LUSC-US 1 160209783 160209783 single base substitution C A stop_gained E297* 889G>T LUSC-US 1 160209783 160209783 single base substitution C A upstream_gene_variant LUSC-US 1 160252819 160252819 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 1 160181323 160181323 single base substitution C T downstream_gene_variant MALY-DE 1 160185389 160185389 single base substitution A G downstream_gene_variant MALY-DE 1 160191619 160191619 single base substitution A C intron_variant MALY-DE 1 160191619 160191619 single base substitution A C upstream_gene_variant MALY-DE 1 160191632 160191632 single base substitution A G intron_variant MALY-DE 1 160191632 160191632 single base substitution A G upstream_gene_variant MALY-DE 1 160194086 160194086 single base substitution T C intron_variant MALY-DE 1 160194086 160194086 single base substitution T C upstream_gene_variant MALY-DE 1 160199514 160199514 single base substitution A T intron_variant MALY-DE 1 160199520 160199520 single base substitution A T intron_variant MALY-DE 1 160203267 160203267 single base substitution C A intron_variant MALY-DE 1 160216804 160216804 single base substitution T C intron_variant MALY-DE 1 160217227 160217227 single base substitution G A intron_variant MALY-DE 1 160227692 160227692 single base substitution T A intron_variant MALY-DE 1 160229483 160229483 insertion of <=200bp - A intron_variant MALY-DE 1 160230030 160230030 single base substitution A C intron_variant MALY-DE 1 160230503 160230503 single base substitution C G intron_variant MALY-DE 1 160232501 160232501 single base substitution T C intron_variant MALY-DE 1 160232501 160232501 single base substitution T C upstream_gene_variant MALY-DE 1 160232519 160232519 single base substitution G C intron_variant MALY-DE 1 160232519 160232519 single base substitution G C upstream_gene_variant MALY-DE 1 160232529 160232529 single base substitution A G intron_variant MALY-DE 1 160232529 160232529 single base substitution A G upstream_gene_variant MALY-DE 1 160233841 160233841 single base substitution T C intron_variant MALY-DE 1 160233841 160233841 single base substitution T C upstream_gene_variant MALY-DE 1 160234986 160234986 single base substitution T C intron_variant MALY-DE 1 160234986 160234986 single base substitution T C upstream_gene_variant MALY-DE 1 160239165 160239165 single base substitution C G intron_variant MALY-DE 1 160246316 160246316 single base substitution G T intron_variant MELA-AU 1 160180539 160180539 single base substitution G A downstream_gene_variant MELA-AU 1 160183601 160183601 single base substitution C T downstream_gene_variant MELA-AU 1 160183706 160183706 single base substitution G A downstream_gene_variant MELA-AU 1 160184027 160184027 single base substitution C T downstream_gene_variant MELA-AU 1 160185385 160185385 single base substitution C T downstream_gene_variant MELA-AU 1 160187151 160187151 single base substitution C T 3_prime_UTR_variant MELA-AU 1 160187151 160187151 single base substitution C T downstream_gene_variant MELA-AU 1 160187151 160187151 single base substitution C T exon_variant MELA-AU 1 160187151 160187151 single base substitution C T intron_variant MELA-AU 1 160187251 160187251 single base substitution G A 3_prime_UTR_variant MELA-AU 1 160187251 160187251 single base substitution G A downstream_gene_variant MELA-AU 1 160187251 160187251 single base substitution G A exon_variant MELA-AU 1 160187251 160187251 single base substitution G A intron_variant MELA-AU 1 160188154 160188154 single base substitution C T 3_prime_UTR_variant MELA-AU 1 160188154 160188154 single base substitution C T downstream_gene_variant MELA-AU 1 160188154 160188154 single base substitution C T exon_variant MELA-AU 1 160188154 160188154 single base substitution C T intron_variant MELA-AU 1 160188154 160188154 single base substitution C T stop_gained W29* 86G>A MELA-AU 1 160188154 160188154 single base substitution C T stop_gained W546* 1637G>A MELA-AU 1 160188154 160188154 single base substitution C T stop_gained W700* 2099G>A MELA-AU 1 160188257 160188257 single base substitution G A downstream_gene_variant MELA-AU 1 160188257 160188257 single base substitution G A intron_variant MELA-AU 1 160189523 160189523 single base substitution A G downstream_gene_variant MELA-AU 1 160189523 160189523 single base substitution A G exon_variant MELA-AU 1 160189523 160189523 single base substitution A G intron_variant MELA-AU 1 160189523 160189523 single base substitution A G upstream_gene_variant MELA-AU 1 160190597 160190597 single base substitution C T downstream_gene_variant MELA-AU 1 160190597 160190597 single base substitution C T exon_variant MELA-AU 1 160190597 160190597 single base substitution C T intron_variant MELA-AU 1 160190597 160190597 single base substitution C T upstream_gene_variant MELA-AU 1 160191467 160191467 single base substitution C G intron_variant MELA-AU 1 160191467 160191467 single base substitution C G upstream_gene_variant MELA-AU 1 160192047 160192047 single base substitution G A intron_variant MELA-AU 1 160192047 160192047 single base substitution G A upstream_gene_variant MELA-AU 1 160192077 160192077 single base substitution G A intron_variant MELA-AU 1 160192077 160192077 single base substitution G A upstream_gene_variant MELA-AU 1 160192224 160192224 single base substitution C T intron_variant MELA-AU 1 160192224 160192224 single base substitution C T upstream_gene_variant MELA-AU 1 160192442 160192442 single base substitution A C missense_variant V480G 1439T>G MELA-AU 1 160192442 160192442 single base substitution A C missense_variant V634G 1901T>G MELA-AU 1 160192442 160192442 single base substitution A C splice_region_variant MELA-AU 1 160192442 160192442 single base substitution A C upstream_gene_variant MELA-AU 1 160192905 160192905 single base substitution G A intron_variant MELA-AU 1 160192905 160192905 single base substitution G A upstream_gene_variant MELA-AU 1 160193058 160193058 single base substitution G A intron_variant MELA-AU 1 160193058 160193058 single base substitution G A upstream_gene_variant MELA-AU 1 160193108 160193108 single base substitution T C intron_variant MELA-AU 1 160193108 160193108 single base substitution T C upstream_gene_variant MELA-AU 1 160193477 160193477 single base substitution C T intron_variant MELA-AU 1 160193477 160193477 single base substitution C T upstream_gene_variant MELA-AU 1 160193924 160193924 single base substitution C T intron_variant MELA-AU 1 160193924 160193924 single base substitution C T upstream_gene_variant MELA-AU 1 160193942 160193942 single base substitution G A intron_variant MELA-AU 1 160193942 160193942 single base substitution G A upstream_gene_variant MELA-AU 1 160194971 160194971 single base substitution G A intron_variant MELA-AU 1 160194971 160194971 single base substitution G A upstream_gene_variant MELA-AU 1 160196101 160196101 single base substitution C T intron_variant MELA-AU 1 160196101 160196101 single base substitution C T upstream_gene_variant MELA-AU 1 160196290 160196290 single base substitution A G intron_variant MELA-AU 1 160196290 160196290 single base substitution A G upstream_gene_variant MELA-AU 1 160197137 160197137 single base substitution C G intron_variant MELA-AU 1 160197137 160197137 single base substitution C G upstream_gene_variant MELA-AU 1 160197394 160197394 single base substitution G A intron_variant MELA-AU 1 160197394 160197394 single base substitution G A upstream_gene_variant MELA-AU 1 160197903 160197903 single base substitution G A intron_variant MELA-AU 1 160197903 160197903 single base substitution G A upstream_gene_variant MELA-AU 1 160198043 160198043 single base substitution G A intron_variant MELA-AU 1 160198043 160198043 single base substitution G A upstream_gene_variant MELA-AU 1 160198361 160198362 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 160198361 160198362 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 160198693 160198693 single base substitution G T intron_variant MELA-AU 1 160198693 160198693 single base substitution G T upstream_gene_variant MELA-AU 1 160199041 160199041 single base substitution G A intron_variant MELA-AU 1 160199041 160199041 single base substitution G A upstream_gene_variant MELA-AU 1 160199450 160199450 single base substitution G A intron_variant MELA-AU 1 160199680 160199680 single base substitution G A intron_variant MELA-AU 1 160199867 160199867 single base substitution G A intron_variant MELA-AU 1 160199884 160199884 single base substitution G A intron_variant MELA-AU 1 160199902 160199902 single base substitution G A intron_variant MELA-AU 1 160200986 160200986 single base substitution G A intron_variant MELA-AU 1 160201363 160201363 single base substitution G A intron_variant MELA-AU 1 160202597 160202597 single base substitution G A intron_variant MELA-AU 1 160202676 160202676 single base substitution G A intron_variant MELA-AU 1 160202894 160202894 single base substitution G A intron_variant MELA-AU 1 160203112 160203112 single base substitution G A intron_variant MELA-AU 1 160203842 160203842 single base substitution G A intron_variant MELA-AU 1 160204132 160204132 single base substitution G A downstream_gene_variant MELA-AU 1 160204132 160204132 single base substitution G A intron_variant MELA-AU 1 160204558 160204559 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 1 160204558 160204559 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 160204932 160204932 single base substitution G T downstream_gene_variant MELA-AU 1 160204932 160204932 single base substitution G T intron_variant MELA-AU 1 160205041 160205041 single base substitution A G downstream_gene_variant MELA-AU 1 160205041 160205041 single base substitution A G intron_variant MELA-AU 1 160205962 160205962 single base substitution G A downstream_gene_variant MELA-AU 1 160205962 160205962 single base substitution G A intron_variant MELA-AU 1 160206007 160206007 single base substitution C T downstream_gene_variant MELA-AU 1 160206007 160206007 single base substitution C T intron_variant MELA-AU 1 160206113 160206113 single base substitution T C downstream_gene_variant MELA-AU 1 160206113 160206113 single base substitution T C intron_variant MELA-AU 1 160206337 160206337 single base substitution G A downstream_gene_variant MELA-AU 1 160206337 160206337 single base substitution G A intron_variant MELA-AU 1 160206905 160206905 single base substitution G A downstream_gene_variant MELA-AU 1 160206905 160206905 single base substitution G A intron_variant MELA-AU 1 160206997 160206997 single base substitution G A downstream_gene_variant MELA-AU 1 160206997 160206997 single base substitution G A exon_variant MELA-AU 1 160206997 160206997 single base substitution G A missense_variant P296L 887C>T MELA-AU 1 160206997 160206997 single base substitution G A missense_variant P450L 1349C>T MELA-AU 1 160207165 160207165 single base substitution G A downstream_gene_variant MELA-AU 1 160207165 160207165 single base substitution G A intron_variant MELA-AU 1 160208056 160208056 single base substitution A G downstream_gene_variant MELA-AU 1 160208056 160208056 single base substitution A G intron_variant MELA-AU 1 160208889 160208889 single base substitution G A downstream_gene_variant MELA-AU 1 160208889 160208889 single base substitution G A intron_variant MELA-AU 1 160208889 160208889 single base substitution G A upstream_gene_variant MELA-AU 1 160209143 160209143 single base substitution A C 3_prime_UTR_variant MELA-AU 1 160209143 160209143 single base substitution A C downstream_gene_variant MELA-AU 1 160209143 160209143 single base substitution A C intron_variant MELA-AU 1 160209143 160209143 single base substitution A C upstream_gene_variant MELA-AU 1 160210194 160210194 single base substitution G A intron_variant MELA-AU 1 160210194 160210194 single base substitution G A upstream_gene_variant MELA-AU 1 160210952 160210952 single base substitution A T intron_variant MELA-AU 1 160210952 160210952 single base substitution A T upstream_gene_variant MELA-AU 1 160211038 160211038 single base substitution G A intron_variant MELA-AU 1 160211038 160211038 single base substitution G A upstream_gene_variant MELA-AU 1 160211283 160211283 single base substitution T G intron_variant MELA-AU 1 160211283 160211283 single base substitution T G upstream_gene_variant MELA-AU 1 160211981 160211981 single base substitution G A intron_variant MELA-AU 1 160211981 160211981 single base substitution G A upstream_gene_variant MELA-AU 1 160213544 160213544 single base substitution G A intron_variant MELA-AU 1 160213544 160213544 single base substitution G A upstream_gene_variant MELA-AU 1 160214100 160214100 single base substitution G A intron_variant MELA-AU 1 160214213 160214213 single base substitution G A intron_variant MELA-AU 1 160215368 160215368 single base substitution G A intron_variant MELA-AU 1 160216230 160216230 single base substitution G A intron_variant MELA-AU 1 160216357 160216357 single base substitution G A intron_variant MELA-AU 1 160216660 160216660 single base substitution G A intron_variant MELA-AU 1 160216998 160216998 single base substitution G A intron_variant MELA-AU 1 160217175 160217175 single base substitution C A intron_variant MELA-AU 1 160218045 160218045 single base substitution C T intron_variant MELA-AU 1 160218447 160218447 single base substitution C T intron_variant MELA-AU 1 160218675 160218675 single base substitution G A intron_variant MELA-AU 1 160218873 160218873 single base substitution G A intron_variant MELA-AU 1 160219096 160219096 single base substitution T A intron_variant MELA-AU 1 160219638 160219638 single base substitution G A intron_variant MELA-AU 1 160220948 160220948 single base substitution G A intron_variant MELA-AU 1 160221220 160221220 single base substitution C G intron_variant MELA-AU 1 160221312 160221312 single base substitution G A intron_variant MELA-AU 1 160222255 160222255 single base substitution G A intron_variant MELA-AU 1 160222757 160222757 single base substitution G A intron_variant MELA-AU 1 160222867 160222867 single base substitution G A intron_variant MELA-AU 1 160222923 160222923 single base substitution G A intron_variant MELA-AU 1 160223373 160223373 single base substitution G A intron_variant MELA-AU 1 160224099 160224099 single base substitution G A intron_variant MELA-AU 1 160225028 160225028 single base substitution C T intron_variant MELA-AU 1 160225316 160225316 single base substitution G A intron_variant MELA-AU 1 160226001 160226001 single base substitution G A intron_variant MELA-AU 1 160228350 160228350 single base substitution G A intron_variant MELA-AU 1 160228361 160228361 single base substitution G A intron_variant MELA-AU 1 160228695 160228695 single base substitution C G intron_variant MELA-AU 1 160229126 160229126 single base substitution C T intron_variant MELA-AU 1 160229204 160229204 single base substitution T C intron_variant MELA-AU 1 160229217 160229217 single base substitution G A intron_variant MELA-AU 1 160229459 160229459 single base substitution G A intron_variant MELA-AU 1 160229612 160229612 single base substitution A G intron_variant MELA-AU 1 160230187 160230187 single base substitution T C intron_variant MELA-AU 1 160230197 160230197 single base substitution T A intron_variant MELA-AU 1 160231060 160231060 single base substitution C T intron_variant MELA-AU 1 160232404 160232404 single base substitution G A intron_variant MELA-AU 1 160232404 160232404 single base substitution G A upstream_gene_variant MELA-AU 1 160232961 160232961 single base substitution G A intron_variant MELA-AU 1 160232961 160232961 single base substitution G A upstream_gene_variant MELA-AU 1 160233444 160233444 single base substitution C T intron_variant MELA-AU 1 160233444 160233444 single base substitution C T upstream_gene_variant MELA-AU 1 160233701 160233701 single base substitution G A intron_variant MELA-AU 1 160233701 160233701 single base substitution G A upstream_gene_variant MELA-AU 1 160233790 160233790 single base substitution A T intron_variant MELA-AU 1 160233790 160233790 single base substitution A T upstream_gene_variant MELA-AU 1 160233810 160233810 single base substitution C T intron_variant MELA-AU 1 160233810 160233810 single base substitution C T upstream_gene_variant MELA-AU 1 160233892 160233892 single base substitution C T intron_variant MELA-AU 1 160233892 160233892 single base substitution C T upstream_gene_variant MELA-AU 1 160234204 160234204 single base substitution G A intron_variant MELA-AU 1 160234204 160234204 single base substitution G A upstream_gene_variant MELA-AU 1 160234547 160234547 single base substitution G A intron_variant MELA-AU 1 160234547 160234547 single base substitution G A upstream_gene_variant MELA-AU 1 160234854 160234854 single base substitution C T intron_variant MELA-AU 1 160234854 160234854 single base substitution C T upstream_gene_variant MELA-AU 1 160234968 160234968 single base substitution G A intron_variant MELA-AU 1 160234968 160234968 single base substitution G A upstream_gene_variant MELA-AU 1 160235521 160235521 single base substitution G T intron_variant MELA-AU 1 160235521 160235521 single base substitution G T upstream_gene_variant MELA-AU 1 160235634 160235634 single base substitution C T intron_variant MELA-AU 1 160235634 160235634 single base substitution C T upstream_gene_variant MELA-AU 1 160235848 160235848 single base substitution G A intron_variant MELA-AU 1 160235848 160235848 single base substitution G A upstream_gene_variant MELA-AU 1 160235891 160235891 single base substitution A G intron_variant MELA-AU 1 160235891 160235891 single base substitution A G upstream_gene_variant MELA-AU 1 160235976 160235976 single base substitution C T intron_variant MELA-AU 1 160235976 160235976 single base substitution C T upstream_gene_variant MELA-AU 1 160236004 160236004 single base substitution C T intron_variant MELA-AU 1 160236004 160236004 single base substitution C T upstream_gene_variant MELA-AU 1 160236021 160236021 single base substitution C G intron_variant MELA-AU 1 160236021 160236021 single base substitution C G upstream_gene_variant MELA-AU 1 160236198 160236198 single base substitution C T intron_variant MELA-AU 1 160236198 160236198 single base substitution C T upstream_gene_variant MELA-AU 1 160236230 160236230 single base substitution G A intron_variant MELA-AU 1 160236230 160236230 single base substitution G A upstream_gene_variant MELA-AU 1 160236315 160236315 single base substitution G A intron_variant MELA-AU 1 160236315 160236315 single base substitution G A upstream_gene_variant MELA-AU 1 160236344 160236344 single base substitution C T intron_variant MELA-AU 1 160236344 160236344 single base substitution C T upstream_gene_variant MELA-AU 1 160236397 160236397 single base substitution G A intron_variant MELA-AU 1 160236397 160236397 single base substitution G A upstream_gene_variant MELA-AU 1 160236952 160236955 deletion of <=200bp CCTG - intron_variant MELA-AU 1 160236952 160236955 deletion of <=200bp CCTG - upstream_gene_variant MELA-AU 1 160237020 160237020 single base substitution G A intron_variant MELA-AU 1 160237020 160237020 single base substitution G A upstream_gene_variant MELA-AU 1 160237095 160237096 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 160237095 160237096 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 1 160237942 160237942 single base substitution G T intron_variant MELA-AU 1 160238219 160238219 single base substitution C T intron_variant MELA-AU 1 160238847 160238847 single base substitution G A intron_variant MELA-AU 1 160239178 160239178 single base substitution G A intron_variant MELA-AU 1 160239427 160239427 single base substitution C T intron_variant MELA-AU 1 160239500 160239500 single base substitution G A intron_variant MELA-AU 1 160240100 160240100 single base substitution T G intron_variant MELA-AU 1 160240322 160240322 single base substitution C T intron_variant MELA-AU 1 160240522 160240522 single base substitution C T intron_variant MELA-AU 1 160240569 160240569 single base substitution C T intron_variant MELA-AU 1 160241099 160241099 single base substitution G A intron_variant MELA-AU 1 160241576 160241577 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 160241679 160241679 single base substitution G A intron_variant MELA-AU 1 160241694 160241694 single base substitution T A intron_variant MELA-AU 1 160241773 160241773 single base substitution C T intron_variant MELA-AU 1 160242442 160242442 single base substitution C T intron_variant MELA-AU 1 160242701 160242701 single base substitution G A intron_variant MELA-AU 1 160243200 160243200 single base substitution C T intron_variant MELA-AU 1 160243690 160243690 single base substitution G A intron_variant MELA-AU 1 160244956 160244956 single base substitution G A intron_variant MELA-AU 1 160245482 160245482 single base substitution G A intron_variant MELA-AU 1 160245669 160245669 single base substitution G A intron_variant MELA-AU 1 160246156 160246156 single base substitution G A intron_variant MELA-AU 1 160246694 160246694 single base substitution G A intron_variant MELA-AU 1 160247096 160247096 single base substitution G A intron_variant MELA-AU 1 160247167 160247167 single base substitution G A intron_variant MELA-AU 1 160247516 160247516 single base substitution G A intron_variant MELA-AU 1 160248075 160248075 single base substitution T C intron_variant MELA-AU 1 160248614 160248614 single base substitution G A intron_variant MELA-AU 1 160248626 160248626 single base substitution G A intron_variant MELA-AU 1 160249067 160249067 single base substitution G A intron_variant MELA-AU 1 160249126 160249126 single base substitution G A intron_variant MELA-AU 1 160249313 160249313 single base substitution G A intron_variant MELA-AU 1 160249648 160249648 single base substitution G A intron_variant MELA-AU 1 160249655 160249655 single base substitution G A intron_variant MELA-AU 1 160249905 160249905 single base substitution G A synonymous_variant T95T 285C>T MELA-AU 1 160250048 160250048 single base substitution G A intron_variant MELA-AU 1 160250062 160250062 single base substitution A G intron_variant MELA-AU 1 160250125 160250125 single base substitution G A intron_variant MELA-AU 1 160250131 160250131 single base substitution G A intron_variant MELA-AU 1 160251411 160251411 single base substitution G A intron_variant MELA-AU 1 160252765 160252765 single base substitution G A 5_prime_UTR_variant MELA-AU 1 160252906 160252906 single base substitution G A splice_region_variant MELA-AU 1 160253076 160253076 single base substitution G A intron_variant MELA-AU 1 160253210 160253210 single base substitution G A intron_variant MELA-AU 1 160253513 160253514 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 160254384 160254384 single base substitution G A intron_variant MELA-AU 1 160254926 160254926 single base substitution C T upstream_gene_variant MELA-AU 1 160254939 160254939 single base substitution G A upstream_gene_variant MELA-AU 1 160254946 160254946 single base substitution G A upstream_gene_variant MELA-AU 1 160254948 160254948 single base substitution C T upstream_gene_variant MELA-AU 1 160254969 160254969 single base substitution C T upstream_gene_variant MELA-AU 1 160254971 160254971 single base substitution C T upstream_gene_variant MELA-AU 1 160254980 160254980 single base substitution C T upstream_gene_variant MELA-AU 1 160254984 160254984 single base substitution C T upstream_gene_variant MELA-AU 1 160254995 160254995 single base substitution C T upstream_gene_variant MELA-AU 1 160255172 160255172 single base substitution A G upstream_gene_variant MELA-AU 1 160255652 160255652 single base substitution C T upstream_gene_variant MELA-AU 1 160256393 160256393 single base substitution A T upstream_gene_variant MELA-AU 1 160256695 160256695 single base substitution A G upstream_gene_variant MELA-AU 1 160257334 160257334 single base substitution T G upstream_gene_variant MELA-AU 1 160257563 160257563 single base substitution G A upstream_gene_variant MELA-AU 1 160258242 160258242 single base substitution G A upstream_gene_variant MELA-AU 1 160258891 160258891 single base substitution C T upstream_gene_variant MELA-AU 1 160259331 160259331 single base substitution G A upstream_gene_variant MELA-AU 1 160259429 160259429 single base substitution G A upstream_gene_variant ORCA-IN 1 160206803 160206803 single base substitution C T downstream_gene_variant ORCA-IN 1 160206803 160206803 single base substitution C T intron_variant ORCA-IN 1 160217974 160217974 single base substitution G A intron_variant ORCA-IN 1 160223517 160223517 single base substitution G A intron_variant ORCA-IN 1 160251637 160251637 single base substitution C A intron_variant OV-AU 1 160184552 160184552 single base substitution G T downstream_gene_variant OV-AU 1 160187952 160187952 single base substitution G A downstream_gene_variant OV-AU 1 160187952 160187952 single base substitution G A exon_variant OV-AU 1 160187952 160187952 single base substitution G A intron_variant OV-AU 1 160199744 160199744 single base substitution C T intron_variant OV-AU 1 160210663 160210663 single base substitution G T intron_variant OV-AU 1 160210663 160210663 single base substitution G T upstream_gene_variant OV-AU 1 160212334 160212334 single base substitution G A intron_variant OV-AU 1 160212334 160212334 single base substitution G A upstream_gene_variant OV-AU 1 160213893 160213893 single base substitution G A intron_variant OV-AU 1 160221784 160221784 single base substitution C T intron_variant OV-AU 1 160223311 160223311 single base substitution G A intron_variant OV-AU 1 160225952 160225952 single base substitution T G intron_variant OV-AU 1 160226845 160226845 single base substitution C T intron_variant OV-AU 1 160235756 160235756 single base substitution C G intron_variant OV-AU 1 160235756 160235756 single base substitution C G upstream_gene_variant OV-AU 1 160244711 160244711 single base substitution T C intron_variant OV-AU 1 160254974 160254974 single base substitution C G upstream_gene_variant OV-AU 1 160259278 160259278 single base substitution A G upstream_gene_variant OV-AU 1 160259352 160259352 single base substitution T C upstream_gene_variant OV-US 1 160236616 160236616 single base substitution G C intron_variant OV-US 1 160236616 160236616 single base substitution G C upstream_gene_variant PACA-AU 1 160181127 160181127 single base substitution C T downstream_gene_variant PACA-AU 1 160183045 160183045 single base substitution G T downstream_gene_variant PACA-AU 1 160185118 160185118 single base substitution C T downstream_gene_variant PACA-AU 1 160189882 160189885 deletion of <=200bp AAAC - downstream_gene_variant PACA-AU 1 160189882 160189885 deletion of <=200bp AAAC - exon_variant PACA-AU 1 160189882 160189885 deletion of <=200bp AAAC - intron_variant PACA-AU 1 160189882 160189885 deletion of <=200bp AAAC - upstream_gene_variant PACA-AU 1 160197266 160197266 single base substitution C T intron_variant PACA-AU 1 160197266 160197266 single base substitution C T upstream_gene_variant PACA-AU 1 160198497 160198497 single base substitution A G intron_variant PACA-AU 1 160198497 160198497 single base substitution A G upstream_gene_variant PACA-AU 1 160199673 160199673 single base substitution C T intron_variant PACA-AU 1 160203086 160203086 single base substitution C T intron_variant PACA-AU 1 160206232 160206232 single base substitution G A downstream_gene_variant PACA-AU 1 160206232 160206232 single base substitution G A intron_variant PACA-AU 1 160206234 160206234 single base substitution G A downstream_gene_variant PACA-AU 1 160206234 160206234 single base substitution G A intron_variant PACA-AU 1 160206236 160206236 single base substitution G A downstream_gene_variant PACA-AU 1 160206236 160206236 single base substitution G A intron_variant PACA-AU 1 160212325 160212325 single base substitution A G intron_variant PACA-AU 1 160212325 160212325 single base substitution A G upstream_gene_variant PACA-AU 1 160213214 160213214 single base substitution T A intron_variant PACA-AU 1 160213214 160213214 single base substitution T A upstream_gene_variant PACA-AU 1 160224947 160224947 single base substitution C T intron_variant PACA-AU 1 160235339 160235339 single base substitution C G intron_variant PACA-AU 1 160235339 160235339 single base substitution C G upstream_gene_variant PACA-AU 1 160236896 160236896 single base substitution T A intron_variant PACA-AU 1 160236896 160236896 single base substitution T A upstream_gene_variant PACA-AU 1 160242730 160242730 single base substitution G C intron_variant PACA-AU 1 160244966 160244966 single base substitution C G intron_variant PACA-AU 1 160246289 160246289 single base substitution A T intron_variant PACA-AU 1 160246357 160246357 single base substitution A G intron_variant PACA-AU 1 160249735 160249736 deletion of <=200bp GA - intron_variant PACA-AU 1 160252347 160252347 single base substitution C A intron_variant PACA-AU 1 160256574 160256574 single base substitution T C upstream_gene_variant PACA-CA 1 160183302 160183302 single base substitution T C downstream_gene_variant PACA-CA 1 160186018 160186018 single base substitution G C 3_prime_UTR_variant PACA-CA 1 160186018 160186018 single base substitution G C downstream_gene_variant PACA-CA 1 160186890 160186890 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 1 160186890 160186890 deletion of <=200bp G - downstream_gene_variant PACA-CA 1 160186890 160186890 deletion of <=200bp G - intron_variant PACA-CA 1 160186937 160186937 single base substitution A G 3_prime_UTR_variant PACA-CA 1 160186937 160186937 single base substitution A G downstream_gene_variant PACA-CA 1 160186937 160186937 single base substitution A G intron_variant PACA-CA 1 160189182 160189182 single base substitution G C downstream_gene_variant PACA-CA 1 160189182 160189182 single base substitution G C exon_variant PACA-CA 1 160189182 160189182 single base substitution G C intron_variant PACA-CA 1 160189182 160189182 single base substitution G C upstream_gene_variant PACA-CA 1 160203198 160203198 insertion of <=200bp - A intron_variant PACA-CA 1 160203771 160203771 single base substitution G T intron_variant PACA-CA 1 160204165 160204165 single base substitution G C downstream_gene_variant PACA-CA 1 160204165 160204165 single base substitution G C intron_variant PACA-CA 1 160204309 160204309 single base substitution G T downstream_gene_variant PACA-CA 1 160204309 160204309 single base substitution G T intron_variant PACA-CA 1 160206247 160206247 single base substitution T C downstream_gene_variant PACA-CA 1 160206247 160206247 single base substitution T C intron_variant PACA-CA 1 160208971 160208971 single base substitution G A downstream_gene_variant PACA-CA 1 160208971 160208971 single base substitution G A intron_variant PACA-CA 1 160208971 160208971 single base substitution G A upstream_gene_variant PACA-CA 1 160209659 160209659 single base substitution C T downstream_gene_variant PACA-CA 1 160209659 160209659 single base substitution C T exon_variant PACA-CA 1 160209659 160209659 single base substitution C T missense_variant R184H 551G>A PACA-CA 1 160209659 160209659 single base substitution C T missense_variant R338H 1013G>A PACA-CA 1 160209659 160209659 single base substitution C T upstream_gene_variant PACA-CA 1 160209896 160209896 single base substitution T C downstream_gene_variant PACA-CA 1 160209896 160209896 single base substitution T C exon_variant PACA-CA 1 160209896 160209896 single base substitution T C missense_variant E105G 314A>G PACA-CA 1 160209896 160209896 single base substitution T C missense_variant E259G 776A>G PACA-CA 1 160209896 160209896 single base substitution T C missense_variant E80G 239A>G PACA-CA 1 160209896 160209896 single base substitution T C upstream_gene_variant PACA-CA 1 160210879 160210879 single base substitution T G intron_variant PACA-CA 1 160210879 160210879 single base substitution T G upstream_gene_variant PACA-CA 1 160214885 160214885 single base substitution C G intron_variant PACA-CA 1 160222723 160222723 single base substitution G A intron_variant PACA-CA 1 160225406 160225406 deletion of <=200bp G - intron_variant PACA-CA 1 160230741 160230741 single base substitution G C intron_variant PACA-CA 1 160230935 160230935 single base substitution A C intron_variant PACA-CA 1 160231132 160231132 single base substitution G A 5_prime_UTR_variant PACA-CA 1 160231132 160231132 single base substitution G A intron_variant PACA-CA 1 160237124 160237124 single base substitution G C intron_variant PACA-CA 1 160237124 160237124 single base substitution G C upstream_gene_variant PACA-CA 1 160237653 160237653 single base substitution C G intron_variant PACA-CA 1 160238771 160238771 single base substitution G A intron_variant PACA-CA 1 160242481 160242481 single base substitution C T intron_variant PACA-CA 1 160243075 160243075 single base substitution C T intron_variant PACA-CA 1 160244693 160244693 single base substitution A T intron_variant PACA-CA 1 160244789 160244789 single base substitution G A intron_variant PACA-CA 1 160244828 160244828 single base substitution C T intron_variant PACA-CA 1 160246929 160246929 single base substitution A T intron_variant PACA-CA 1 160247369 160247369 single base substitution C A intron_variant PACA-CA 1 160249475 160249475 single base substitution C T intron_variant PACA-CA 1 160250005 160250005 single base substitution G C missense_variant S62C 185C>G PACA-CA 1 160250315 160250315 single base substitution C T intron_variant PACA-CA 1 160256483 160256483 single base substitution C G upstream_gene_variant PACA-CA 1 160258581 160258581 single base substitution T C upstream_gene_variant PAEN-AU 1 160191801 160191801 single base substitution A G intron_variant PAEN-AU 1 160191801 160191801 single base substitution A G upstream_gene_variant PAEN-AU 1 160196576 160196576 single base substitution T A intron_variant PAEN-AU 1 160196576 160196576 single base substitution T A upstream_gene_variant PAEN-AU 1 160203274 160203274 single base substitution T C intron_variant PAEN-IT 1 160199012 160199012 single base substitution G T intron_variant PAEN-IT 1 160199012 160199012 single base substitution G T upstream_gene_variant PAEN-IT 1 160235625 160235625 single base substitution C A intron_variant PAEN-IT 1 160235625 160235625 single base substitution C A upstream_gene_variant PAEN-IT 1 160258240 160258240 single base substitution G A upstream_gene_variant PBCA-DE 1 160198878 160198878 single base substitution A G intron_variant PBCA-DE 1 160198878 160198878 single base substitution A G upstream_gene_variant PBCA-DE 1 160203669 160203669 single base substitution C A intron_variant PBCA-DE 1 160206237 160206238 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 1 160206237 160206238 deletion of <=200bp TA - intron_variant PBCA-DE 1 160239189 160239189 insertion of <=200bp - A intron_variant PBCA-DE 1 160239199 160239199 deletion of <=200bp T - intron_variant PBCA-DE 1 160240673 160240674 deletion of <=200bp AT - intron_variant PBCA-DE 1 160258243 160258244 deletion of <=200bp TA - upstream_gene_variant PRAD-CA 1 160213043 160213043 single base substitution C A intron_variant PRAD-CA 1 160213043 160213043 single base substitution C A upstream_gene_variant PRAD-UK 1 160181905 160181905 single base substitution A C downstream_gene_variant PRAD-UK 1 160184707 160184707 single base substitution A G downstream_gene_variant PRAD-UK 1 160188781 160188781 single base substitution A G downstream_gene_variant PRAD-UK 1 160188781 160188781 single base substitution A G exon_variant PRAD-UK 1 160188781 160188781 single base substitution A G intron_variant PRAD-UK 1 160188781 160188781 single base substitution A G upstream_gene_variant PRAD-UK 1 160215840 160215840 single base substitution A T intron_variant PRAD-UK 1 160218797 160218797 single base substitution C A intron_variant PRAD-UK 1 160226249 160226249 single base substitution C G intron_variant PRAD-US 1 160187426 160187426 single base substitution C T 3_prime_UTR_variant PRAD-US 1 160187426 160187426 single base substitution C T downstream_gene_variant PRAD-US 1 160187426 160187426 single base substitution C T exon_variant PRAD-US 1 160187426 160187426 single base substitution C T intron_variant PRAD-US 1 160187426 160187426 single base substitution C T missense_variant D584N 1750G>A PRAD-US 1 160187426 160187426 single base substitution C T missense_variant D67N 199G>A PRAD-US 1 160187426 160187426 single base substitution C T missense_variant D738N 2212G>A READ-US 1 160206934 160206934 single base substitution C T downstream_gene_variant READ-US 1 160206934 160206934 single base substitution C T exon_variant READ-US 1 160206934 160206934 single base substitution C T missense_variant R317H 950G>A READ-US 1 160206934 160206934 single base substitution C T missense_variant R471H 1412G>A READ-US 1 160253413 160253413 single base substitution G A intron_variant RECA-EU 1 160181042 160181042 single base substitution A G downstream_gene_variant RECA-EU 1 160187495 160187495 single base substitution A T 3_prime_UTR_variant RECA-EU 1 160187495 160187495 single base substitution A T downstream_gene_variant RECA-EU 1 160187495 160187495 single base substitution A T exon_variant RECA-EU 1 160187495 160187495 single base substitution A T intron_variant RECA-EU 1 160187495 160187495 single base substitution A T missense_variant W44R 130T>A RECA-EU 1 160187495 160187495 single base substitution A T missense_variant W561R 1681T>A RECA-EU 1 160187495 160187495 single base substitution A T missense_variant W715R 2143T>A RECA-EU 1 160198868 160198868 single base substitution T A intron_variant RECA-EU 1 160198868 160198868 single base substitution T A upstream_gene_variant RECA-EU 1 160207797 160207797 single base substitution C T downstream_gene_variant RECA-EU 1 160207797 160207797 single base substitution C T intron_variant RECA-EU 1 160209091 160209091 single base substitution C A 3_prime_UTR_variant RECA-EU 1 160209091 160209091 single base substitution C A downstream_gene_variant RECA-EU 1 160209091 160209091 single base substitution C A intron_variant RECA-EU 1 160209091 160209091 single base substitution C A upstream_gene_variant RECA-EU 1 160215446 160215446 single base substitution T C intron_variant RECA-EU 1 160221526 160221526 single base substitution T G intron_variant RECA-EU 1 160225293 160225293 single base substitution A T intron_variant RECA-EU 1 160231188 160231188 single base substitution C A 5_prime_UTR_variant RECA-EU 1 160231188 160231188 single base substitution C A intron_variant RECA-EU 1 160243203 160243203 single base substitution A G intron_variant RECA-EU 1 160243328 160243328 single base substitution C G intron_variant SKCA-BR 1 160181487 160181487 single base substitution C T downstream_gene_variant SKCA-BR 1 160197144 160197144 single base substitution T C intron_variant SKCA-BR 1 160197144 160197144 single base substitution T C upstream_gene_variant SKCA-BR 1 160201832 160201832 single base substitution T A intron_variant SKCA-BR 1 160206887 160206887 single base substitution G A downstream_gene_variant SKCA-BR 1 160206887 160206887 single base substitution G A intron_variant SKCA-BR 1 160211126 160211126 single base substitution T G intron_variant SKCA-BR 1 160211126 160211126 single base substitution T G upstream_gene_variant SKCA-BR 1 160214100 160214100 single base substitution G A intron_variant SKCA-BR 1 160215127 160215127 single base substitution G A intron_variant SKCA-BR 1 160216303 160216303 single base substitution T A intron_variant SKCA-BR 1 160217515 160217515 single base substitution C G intron_variant SKCA-BR 1 160218685 160218685 insertion of <=200bp - CA intron_variant SKCA-BR 1 160223341 160223341 single base substitution G A intron_variant SKCA-BR 1 160223342 160223342 single base substitution G A intron_variant SKCA-BR 1 160223973 160223973 single base substitution A G intron_variant SKCA-BR 1 160226487 160226487 single base substitution G T intron_variant SKCA-BR 1 160230361 160230361 single base substitution A G intron_variant SKCA-BR 1 160232089 160232089 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 160232089 160232089 single base substitution T G intron_variant SKCA-BR 1 160232089 160232089 single base substitution T G upstream_gene_variant SKCA-BR 1 160232676 160232676 single base substitution G A intron_variant SKCA-BR 1 160232676 160232676 single base substitution G A upstream_gene_variant SKCA-BR 1 160233294 160233294 single base substitution T G intron_variant SKCA-BR 1 160233294 160233294 single base substitution T G upstream_gene_variant SKCA-BR 1 160240531 160240531 single base substitution C T intron_variant SKCA-BR 1 160241677 160241677 single base substitution G A intron_variant SKCA-BR 1 160241679 160241679 single base substitution G A intron_variant SKCA-BR 1 160241694 160241694 single base substitution T A intron_variant SKCA-BR 1 160247185 160247185 single base substitution G C intron_variant SKCA-BR 1 160253377 160253377 single base substitution G A intron_variant SKCA-BR 1 160253395 160253395 single base substitution G A intron_variant SKCA-BR 1 160257898 160257898 insertion of <=200bp - AT upstream_gene_variant SKCM-US 1 160194883 160194883 single base substitution G A exon_variant SKCM-US 1 160194883 160194883 single base substitution G A intron_variant SKCM-US 1 160194883 160194883 single base substitution G A synonymous_variant I390I 1170C>T SKCM-US 1 160194883 160194883 single base substitution G A synonymous_variant I544I 1632C>T SKCM-US 1 160194883 160194883 single base substitution G A upstream_gene_variant SKCM-US 1 160209930 160209930 single base substitution G A downstream_gene_variant SKCM-US 1 160209930 160209930 single base substitution G A exon_variant SKCM-US 1 160209930 160209930 single base substitution G A stop_gained R248* 742C>T SKCM-US 1 160209930 160209930 single base substitution G A stop_gained R69* 205C>T SKCM-US 1 160209930 160209930 single base substitution G A stop_gained R94* 280C>T SKCM-US 1 160209930 160209930 single base substitution G A upstream_gene_variant SKCM-US 1 160250033 160250033 single base substitution G A missense_variant P53S 157C>T SKCM-US 1 160252837 160252837 single base substitution G A 5_prime_UTR_variant SKCM-US 1 160252888 160252888 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 1 160253385 160253385 single base substitution G A intron_variant SKCM-US 1 160254895 160254895 single base substitution C T 5_prime_UTR_variant STAD-US 1 160181415 160181415 single base substitution C T downstream_gene_variant STAD-US 1 160187442 160187442 single base substitution G A 3_prime_UTR_variant STAD-US 1 160187442 160187442 single base substitution G A downstream_gene_variant STAD-US 1 160187442 160187442 single base substitution G A exon_variant STAD-US 1 160187442 160187442 single base substitution G A intron_variant STAD-US 1 160187442 160187442 single base substitution G A synonymous_variant S578S 1734C>T STAD-US 1 160187442 160187442 single base substitution G A synonymous_variant S61S 183C>T STAD-US 1 160187442 160187442 single base substitution G A synonymous_variant S732S 2196C>T STAD-US 1 160188206 160188206 single base substitution G A 3_prime_UTR_variant STAD-US 1 160188206 160188206 single base substitution G A downstream_gene_variant STAD-US 1 160188206 160188206 single base substitution G A exon_variant STAD-US 1 160188206 160188206 single base substitution G A intron_variant STAD-US 1 160188206 160188206 single base substitution G A missense_variant R12W 34C>T STAD-US 1 160188206 160188206 single base substitution G A missense_variant R529W 1585C>T STAD-US 1 160188206 160188206 single base substitution G A missense_variant R683W 2047C>T STAD-US 1 160208501 160208501 single base substitution C T downstream_gene_variant STAD-US 1 160208501 160208501 single base substitution C T exon_variant STAD-US 1 160208501 160208501 single base substitution C T missense_variant A254T 760G>A STAD-US 1 160208501 160208501 single base substitution C T missense_variant A408T 1222G>A STAD-US 1 160209863 160209863 single base substitution C T downstream_gene_variant STAD-US 1 160209863 160209863 single base substitution C T exon_variant STAD-US 1 160209863 160209863 single base substitution C T missense_variant R116H 347G>A STAD-US 1 160209863 160209863 single base substitution C T missense_variant R270H 809G>A STAD-US 1 160209863 160209863 single base substitution C T missense_variant R91H 272G>A STAD-US 1 160209863 160209863 single base substitution C T upstream_gene_variant STAD-US 1 160249918 160249918 single base substitution G A missense_variant T91I 272C>T STAD-US 1 160251955 160251955 single base substitution G T synonymous_variant A9A 27C>A STAD-US 1 160252819 160252819 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 160252825 160252825 single base substitution C T 5_prime_UTR_variant STAD-US 1 160253356 160253356 single base substitution C T intron_variant THCA-SA 1 160206953 160206953 single base substitution T C downstream_gene_variant THCA-SA 1 160206953 160206953 single base substitution T C exon_variant THCA-SA 1 160206953 160206953 single base substitution T C missense_variant I311V 931A>G THCA-SA 1 160206953 160206953 single base substitution T C missense_variant I465V 1393A>G UCEC-US 1 160183029 160183029 single base substitution G A downstream_gene_variant UCEC-US 1 160183220 160183220 single base substitution C T downstream_gene_variant UCEC-US 1 160188740 160188740 single base substitution G T 3_prime_UTR_variant UCEC-US 1 160188740 160188740 single base substitution G T downstream_gene_variant UCEC-US 1 160188740 160188740 single base substitution G T exon_variant UCEC-US 1 160188740 160188740 single base substitution G T intron_variant UCEC-US 1 160188740 160188740 single base substitution G T missense_variant H487N 1459C>A UCEC-US 1 160188740 160188740 single base substitution G T missense_variant H641N 1921C>A UCEC-US 1 160188740 160188740 single base substitution G T upstream_gene_variant UCEC-US 1 160194851 160194851 single base substitution C T intron_variant UCEC-US 1 160194851 160194851 single base substitution C T splice_donor_variant UCEC-US 1 160194851 160194851 single base substitution C T upstream_gene_variant UCEC-US 1 160195426 160195426 single base substitution C A exon_variant UCEC-US 1 160195426 160195426 single base substitution C A missense_variant E366D 1098G>T UCEC-US 1 160195426 160195426 single base substitution C A missense_variant E520D 1560G>T UCEC-US 1 160195426 160195426 single base substitution C A upstream_gene_variant UCEC-US 1 160206928 160206928 single base substitution G A downstream_gene_variant UCEC-US 1 160206928 160206928 single base substitution G A exon_variant UCEC-US 1 160206928 160206928 single base substitution G A missense_variant A319V 956C>T UCEC-US 1 160206928 160206928 single base substitution G A missense_variant A473V 1418C>T UCEC-US 1 160209667 160209667 single base substitution C T downstream_gene_variant UCEC-US 1 160209667 160209667 single base substitution C T exon_variant UCEC-US 1 160209667 160209667 single base substitution C T synonymous_variant Q181Q 543G>A UCEC-US 1 160209667 160209667 single base substitution C T synonymous_variant Q335Q 1005G>A UCEC-US 1 160209667 160209667 single base substitution C T upstream_gene_variant UCEC-US 1 160209729 160209729 single base substitution G A downstream_gene_variant UCEC-US 1 160209729 160209729 single base substitution G A exon_variant UCEC-US 1 160209729 160209729 single base substitution G A missense_variant R161W 481C>T UCEC-US 1 160209729 160209729 single base substitution G A missense_variant R315W 943C>T UCEC-US 1 160209729 160209729 single base substitution G A upstream_gene_variant UCEC-US 1 160209745 160209745 single base substitution G T downstream_gene_variant UCEC-US 1 160209745 160209745 single base substitution G T exon_variant UCEC-US 1 160209745 160209745 single base substitution G T synonymous_variant L155L 465C>A UCEC-US 1 160209745 160209745 single base substitution G T synonymous_variant L309L 927C>A UCEC-US 1 160209745 160209745 single base substitution G T upstream_gene_variant UCEC-US 1 160209761 160209761 single base substitution G T downstream_gene_variant UCEC-US 1 160209761 160209761 single base substitution G T exon_variant UCEC-US 1 160209761 160209761 single base substitution G T missense_variant P125H 374C>A UCEC-US 1 160209761 160209761 single base substitution G T missense_variant P150H 449C>A UCEC-US 1 160209761 160209761 single base substitution G T missense_variant P304H 911C>A UCEC-US 1 160209761 160209761 single base substitution G T upstream_gene_variant UCEC-US 1 160209773 160209773 single base substitution G A downstream_gene_variant UCEC-US 1 160209773 160209773 single base substitution G A exon_variant UCEC-US 1 160209773 160209773 single base substitution G A missense_variant A121V 362C>T UCEC-US 1 160209773 160209773 single base substitution G A missense_variant A146V 437C>T UCEC-US 1 160209773 160209773 single base substitution G A missense_variant A300V 899C>T UCEC-US 1 160209773 160209773 single base substitution G A upstream_gene_variant UCEC-US 1 160209861 160209861 single base substitution G A downstream_gene_variant UCEC-US 1 160209861 160209861 single base substitution G A exon_variant UCEC-US 1 160209861 160209861 single base substitution G A missense_variant R117C 349C>T UCEC-US 1 160209861 160209861 single base substitution G A missense_variant R271C 811C>T UCEC-US 1 160209861 160209861 single base substitution G A missense_variant R92C 274C>T UCEC-US 1 160209861 160209861 single base substitution G A upstream_gene_variant UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - disruptive_inframe_deletion EEEEE101E UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - disruptive_inframe_deletion EEEEE255E UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - disruptive_inframe_deletion EEEEE76E UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - downstream_gene_variant UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - exon_variant UCEC-US 1 160209896 160209907 deletion of <=200bp TCCTCTTCCTCT - upstream_gene_variant UCEC-US 1 160210070 160210070 single base substitution C T downstream_gene_variant UCEC-US 1 160210070 160210070 single base substitution C T exon_variant UCEC-US 1 160210070 160210070 single base substitution C T missense_variant S201N 602G>A UCEC-US 1 160210070 160210070 single base substitution C T missense_variant S22N 65G>A UCEC-US 1 160210070 160210070 single base substitution C T missense_variant S47N 140G>A UCEC-US 1 160210070 160210070 single base substitution C T upstream_gene_variant UCEC-US 1 160213760 160213760 single base substitution G A exon_variant UCEC-US 1 160213760 160213760 single base substitution G A intron_variant UCEC-US 1 160213760 160213760 single base substitution G A synonymous_variant D13D 39C>T UCEC-US 1 160213760 160213760 single base substitution G A synonymous_variant D167D 501C>T UCEC-US 1 160213760 160213760 single base substitution G A upstream_gene_variant UCEC-US 1 160213774 160213774 single base substitution C T exon_variant UCEC-US 1 160213774 160213774 single base substitution C T intron_variant UCEC-US 1 160213774 160213774 single base substitution C T missense_variant D163N 487G>A UCEC-US 1 160213774 160213774 single base substitution C T missense_variant D9N 25G>A UCEC-US 1 160213774 160213774 single base substitution C T upstream_gene_variant UCEC-US 1 160249616 160249616 single base substitution G T missense_variant P117H 350C>A UCEC-US 1 160249891 160249891 single base substitution C T missense_variant R100H 299G>A UCEC-US 1 160249982 160249982 single base substitution T G missense_variant K70Q 208A>C UCEC-US 1 160252796 160252796 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 160252819 160252819 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 160252884 160252884 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 160253319 160253319 single base substitution C A intron_variant UCEC-US 1 160253338 160253338 single base substitution C T intron_variant UCEC-US 1 160253339 160253339 single base substitution G A intron_variant UCEC-US 1 160253413 160253413 single base substitution G A intron_variant UCEC-US 1 160254895 160254895 single base substitution C T 5_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6566-01 COSM4024117 c.760G>A p.A254T Substitution - Missense 1:160238711-160238711 - 587332 COSM1203077 c.173A>G p.N58S Substitution - Missense 1:160240247-160240247 - SH-4885 COSM5018600 c.777C>T p.D259D Substitution - coding silent 1:160238694-160238694 - PTC_405 COSM5958494 c.931A>G p.I311V Substitution - Missense 1:160237163-160237163 - HCC94 COSM1601104 c.1630A>G p.M544V Substitution - Missense 1:160218371-160218371 - TCGA-AA-A02J-01 COSM300756 c.197G>C p.G66A Substitution - Missense 1:160240223-160240223 - TCGA-AB-2895-03 COSM1317642 c.214T>C p.S72P Substitution - Missense 1:160240206-160240206 - DU-145 COSM1203081 c.1318G>A p.V440I Substitution - Missense 1:160222773-160222773 - S02322 COSM5691078 c.508G>C p.V170L Substitution - Missense 1:160239912-160239912 - TCGA-BS-A0UL-01 COSM898235 c.861C>T p.H287H Substitution - coding silent 1:160238610-160238610 - TCGA-HC-7817-01 COSM3671463 c.1750G>A p.D584N Substitution - Missense 1:160217636-160217636 - Pat_14_B COSM5844166 c.736C>T p.P246S Substitution - Missense 1:160238735-160238735 - NCI-H835 COSM2085422 c.700G>T p.G234C Substitution - Missense 1:160239720-160239720 - ESO-0015 COSM1249750 c.773G>A p.R258H Substitution - Missense 1:160238698-160238698 - TCGA-F5-6814-01 COSM2085416 c.950G>A p.R317H Substitution - Missense 1:160237144-160237144 - 2334187 COSM319810 c.531A>T p.R177S Substitution - Missense 1:160239889-160239889 - LUAD-S01315 COSM344868 c.1762G>T p.G588C Substitution - Missense 1:160217624-160217624 - TCGA-BS-A0UV-01 COSM898233 c.1098G>T p.E366D Substitution - Missense 1:160225636-160225636 - PCSI_0083_Pa_X COSM3376803 c.551G>A p.R184H Substitution - Missense 1:160239869-160239869 - TCGA-A5-A0G9-01 COSM898244 c.72G>A p.E24E Substitution - coding silent 1:160240348-160240348 - TCGA-AX-A0J1-01 COSM898232 c.1201+1G>A p.? Unknown 1:160225061-160225061 - TCGA-BH-A0HF-01 COSM3802475 c.359G>A p.R120H Substitution - Missense 1:160240061-160240061 - TCGA-A5-A0GH-01 COSM898239 c.449C>A p.P150H Substitution - Missense 1:160239971-160239971 - Gp5D COSM2085384 c.1710C>T p.D570D Substitution - coding silent 1:160217676-160217676 - Pat_53_B COSM5844168 c.637G>A p.D213N Substitution - Missense 1:160239783-160239783 - sysucc-1370T COSM5469671 c.276A>G p.E92E Substitution - coding silent 1:160240144-160240144 - ODG9 COSM5731292 c.1328A>G p.Y443C Substitution - Missense 1:160222763-160222763 - PD24209a COSM5798351 c.1071-10C>G p.? Unknown 1:160225673-160225673 - HCC94T COSM1601104 c.1630A>G p.M544V Substitution - Missense 1:160218371-160218371 - TCGA-AP-A059-01 COSM898231 c.1459C>A p.H487N Substitution - Missense 1:160218950-160218950 - TCGA-AC-A23H-01 COSM3802477 c.37G>C p.D13H Substitution - Missense 1:160243972-160243972 - ESCC-110T COSM3934180 c.105A>G p.T35T Substitution - coding silent 1:160240315-160240315 - C0041T COSM4140894 c.1681T>A p.W561R Substitution - Missense 1:160217705-160217705 - HCC156 COSM3705160 c.671G>A p.R224Q Substitution - Missense 1:160239749-160239749 - TCGA-EA-A439-01 COSM4843668 c.1736C>T p.S579F Substitution - Missense 1:160217650-160217650 - TCGA-B5-A0JY-01 COSM898246 c.25G>A p.D9N Substitution - Missense 1:160243984-160243984 - CSCC-60-T COSM4566780 c.471_472CC>TT p.L158F Substitution - Missense 1:160239948-160239949 - pfg008T COSM1639577 c.611G>A p.R204H Substitution - Missense 1:160239809-160239809 - NPC15F COSM4995302 c.655G>A p.V219M Substitution - Missense 1:160239765-160239765 - 9T COSM107366 c.550C>T p.R184C Substitution - Missense 1:160239870-160239870 - 587234 COSM1203081 c.1318G>A p.V440I Substitution - Missense 1:160222773-160222773 - cSCCP6 COSM136180 c.1534T>G p.S512A Substitution - Missense 1:160218875-160218875 - TCGA-B5-A0JY-01 COSM898234 c.956C>T p.A319V Substitution - Missense 1:160237138-160237138 - CSCC-40-T COSM4482894 c.264C>T p.S88S Substitution - coding silent 1:160240156-160240156 - TCGA-39-5036-01 COSM676761 c.614G>T p.G205V Substitution - Missense 1:160239806-160239806 - TCGA-AP-A051-01 COSM898238 c.465C>A p.L155L Substitution - coding silent 1:160239955-160239955 - TCGA-D8-A27V-01 COSM3802471 c.1102G>C p.E368Q Substitution - Missense 1:160225632-160225632 - TCGA-AP-A059-01 COSM898243 c.140G>A p.S47N Substitution - Missense 1:160240280-160240280 - TCGA-P5-A5EZ-01 COSM4420584 c.254G>T p.G85V Substitution - Missense 1:160240166-160240166 - TCGA-A1-A0SD-01 COSM424319 c.102G>A p.E34E Substitution - coding silent 1:160240318-160240318 - pfg008T COSM1639577 c.611G>A p.R204H Substitution - Missense 1:160239809-160239809 - TCGA-AX-A0J1-01 COSM898245 c.39C>T p.D13D Substitution - coding silent 1:160243970-160243970 - CSCC-29-T COSM4571334 c.433T>C p.S145P Substitution - Missense 1:160239987-160239987 - TCGA-CW-5581-01 COSM463249 c.1154A>G p.E385G Substitution - Missense 1:160225109-160225109 - PCSI_0083_Pa_P COSM3376803 c.551G>A p.R184H Substitution - Missense 1:160239869-160239869 - TCGA-D5-6928-01 COSM1335475 c.1700G>T p.G567V Substitution - Missense 1:160217686-160217686 - Gp2D COSM2085382 c.1723G>A p.E575K Substitution - Missense 1:160217663-160217663 - HN_63058 COSM122509 c.1660C>A p.Q554K Substitution - Missense 1:160218341-160218341 - ATL085 COSM5704973 c.1031C>T p.T344I Substitution - Missense 1:160231336-160231336 - LUAD-NYU263 COSM391959 c.999delG p.L334fs*6 Deletion - Frameshift 1:160231368-160231368 - 19 COSM5745735 c.1288G>T p.G430C Substitution - Missense 1:160224463-160224463 - SC_9047 COSM5553806 c.245A>C p.E82A Substitution - Missense 1:160240175-160240175 - TCGA-A6-5661-01 COSM1335477 c.1047G>A p.V349V Substitution - coding silent 1:160231320-160231320 - 587222 COSM1203075 c.1128C>A p.F376L Substitution - Missense 1:160225606-160225606 - HCC156T COSM3705160 c.671G>A p.R224Q Substitution - Missense 1:160239749-160239749 - Gp5D COSM2085382 c.1723G>A p.E575K Substitution - Missense 1:160217663-160217663 - N-Thy004 COSM5095392 c.107C>T p.S36F Substitution - Missense 1:160240313-160240313 - 587234 COSM1203083 c.613G>A p.G205S Substitution - Missense 1:160239807-160239807 - TCGA-AP-A059-01 COSM898236 c.543G>A p.Q181Q Substitution - coding silent 1:160239877-160239877 - TCGA-BR-6452-01 COSM4024113 c.1734C>T p.S578S Substitution - coding silent 1:160217652-160217652 - PCSI_0083_Pa_P_526 COSM3376803 c.551G>A p.R184H Substitution - Missense 1:160239869-160239869 - TCGA-FJ-A3ZE-01 COSM3788929 c.397G>T p.E133* Substitution - Nonsense 1:160240023-160240023 - CSCC-60-T COSM4531049 c.1753G>A p.E585K Substitution - Missense 1:160217633-160217633 - TCGA-BR-8078-01 COSM4024119 c.347G>A p.R116H Substitution - Missense 1:160240073-160240073 - CSCC-27-T COSM1335479 c.465C>T p.L155L Substitution - coding silent 1:160239955-160239955 - TCGA-EE-A182-06 COSM3476799 c.1170C>T p.I390I Substitution - coding silent 1:160225093-160225093 - 35M COSM5580779 c.451C>T p.R151C Substitution - Missense 1:160239969-160239969 - TCGA-DR-A0ZM-01 COSM458509 c.1685G>T p.R562L Substitution - Missense 1:160217701-160217701 - TCGA-BS-A0UA-01 COSM898237 c.481C>T p.R161W Substitution - Missense 1:160239939-160239939 - DLD1 COSM2085414 c.954A>G p.P318P Substitution - coding silent 1:160237140-160237140 - ESO-147 COSM1249752 c.1400G>A p.C467Y Substitution - Missense 1:160222691-160222691 - TCGA-CJ-4882-01 COSM463250 c.396T>C p.D132D Substitution - coding silent 1:160240024-160240024 - TCGA-22-4595-01 COSM676760 c.427G>T p.E143* Substitution - Nonsense 1:160239993-160239993 - HCT15 COSM2085414 c.954A>G p.P318P Substitution - coding silent 1:160237140-160237140 - 77 COSM5013964 c.1495G>C p.D499H Substitution - Missense 1:160218914-160218914 - TCGA-AX-A0J0-01 COSM898240 c.437C>T p.A146V Substitution - Missense 1:160239983-160239983 - 2334187 COSM319811 c.530G>T p.R177I Substitution - Missense 1:160239890-160239890 - BN24T COSM1601106 c.311A>C p.E104A Substitution - Missense 1:160240109-160240109 - LIM2099 COSM4641014 c.215C>T p.S72L Substitution - Missense 1:160240205-160240205 - TCGA-EE-A29Q-06 COSM3476801 c.280C>T p.R94* Substitution - Nonsense 1:160240140-160240140 - Gp2D COSM2085384 c.1710C>T p.D570D Substitution - coding silent 1:160217676-160217676 - TCGA-B5-A0K6-01 COSM898241 c.349C>T p.R117C Substitution - Missense 1:160240071-160240071 - TCGA-BR-7851-01 COSM4024115 c.1585C>T p.R529W Substitution - Missense 1:160218416-160218416 - 9T COSM110135 c.549C>T p.F183F Substitution - coding silent 1:160239871-160239871 - BN24 COSM1601106 c.311A>C p.E104A Substitution - Missense 1:160240109-160240109 - HCT116 COSM2085416 c.950G>A p.R317H Substitution - Missense 1:160237144-160237144 - TCGA-34-5231-01 COSM676762 c.884C>G p.S295C Substitution - Missense 1:160237210-160237210 - TCGA-E2-A15I-01 COSM3802473 c.675G>C p.R225R Substitution - coding silent 1:160239745-160239745 - 587350 COSM1203079 c.1040T>C p.F347S Substitution - Missense 1:160231327-160231327 - TCGA-A5-A0R8-01 COSM898242 c.303_314del12 p.E109_E112delEEEE Deletion - In frame 1:160240106-160240117 - CSCC-31-T COSM4464442 c.1334C>T p.P445L Substitution - Missense 1:160222757-160222757 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632447 1q22-q23

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S72P c.214T>C 1 160209996 AML C A Missense p.G205V c.614G>T 1 160209596 LUSC C A Missense p.R177I c.530G>T 1 160209680 SCLC C A Missense p.R559L c.1676G>T 1 160188115 LUAD C A Missense p.R559L c.1676G>T 1 160188115 STAD C A Nonsense p.E143* c.427G>T 1 160209783 LUSC C G Missense p.E102Q c.304G>C 1 160209906 HNSC C G Missense p.G66A c.197G>C 1 160210013 COREAD C T Missense p.C467Y c.1400G>A 1 160192481 ESCA C T Missense p.D584N c.1750G>A 1 160187426 PRAD C T Missense p.E63K c.187G>A 1 160210023 LUAD C T Missense p.R204H c.611G>A 1 160209599 STAD C T Missense p.R258H c.773G>A 1 160208488 ESCA C T Missense p.V480M c.1438G>A 1 160192443 LUAD G A Missense p.P156S c.466C>T 1 160209744 LUAD G A Missense p.R117C c.349C>T 1 160209861 UCEC G A Missense p.R161W c.481C>T 1 160209729 MM G A Missense p.R161W c.481C>T 1 160209729 UCEC G A Nonsense p.R94* c.280C>T 1 160209930 CM G C Missense p.S295C c.884C>G 1 160207000 LUSC G C Nonsense p.S99* c.296C>G 1 160209914 LUAD GG AA Missense p.R125C c.372_373delinsTT 1 160209837 CM G T Missense p.P150H c.449C>A 1 160209761 UCEC G T Missense p.Q554K c.1660C>A 1 160188131 HNSC T A Missense p.K526M c.1577A>T 1 160188214 STAD T A Missense p.R177S c.531A>T 1 160209679 SCLC T A Missense p.Y87F c.260A>T 1 160209950 LUAD TCCTCTTCCTCT - InFrameDeletion p.E109_E112delEEEE c.303_314delAGAGGAAGAGGA 1 160209896 UCEC T G Missense p.D97A c.290A>C 1 160209920 LUAD