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 5 179247944 179247944 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr5:179247944C>T c.8C>T c.(7-9)tCg>tTg p.S3L BLCA 5 179251010 179251010 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:179251010A>T c.454A>T c.(454-456)Agc>Tgc p.S152C BLCA 5 179252156 179252156 + Silent SNP A A G TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr5:179252156A>G c.684A>G c.(682-684)ccA>ccG p.P228P BLCA 5 179260685 179260685 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr5:179260685A>G c.1068A>G c.(1066-1068)ctA>ctG p.L356L BLCA 5 179263460 179263460 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr5:179263460C>T c.1190C>T c.(1189-1191)tCc>tTc p.S397F BLCA 5 179263552 179263552 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr5:179263552C>T c.1282C>T c.(1282-1284)Ctg>Ttg p.L428L BLCA 5 179263587 179263587 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr5:179263587G>A c.1317G>A c.(1315-1317)ccG>ccA p.P439P BRCA 5 179251050 179251050 + Missense_Mutation SNP A A G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr5:179251050A>G c.494A>G c.(493-495)aAg>aGg p.K165R BRCA 5 179260248 179260248 + Splice_Site SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr5:179260248C>G c.e6+2 BRCA 5 179260660 179260660 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr5:179260660C>T c.1043C>T c.(1042-1044)cCg>cTg p.P348L BRCA 5 179263500 179263500 + Silent SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr5:179263500C>T c.1230C>T c.(1228-1230)ggC>ggT p.G410G BRCA 5 179263530 179263530 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:179263530G>T c.1260G>T c.(1258-1260)aaG>aaT p.K420N CESC 5 179260716 179260716 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr5:179260716C>G c.1099C>G c.(1099-1101)Ctg>Gtg p.L367V COAD 5 179250952 179250952 + Silent SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:179250952T>C c.396T>C c.(394-396)aaT>aaC p.N132N COAD 5 179251006 179251006 + Silent SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr5:179251006G>A c.450G>A c.(448-450)ttG>ttA p.L150L COAD 5 179251037 179251037 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:179251037C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W COAD 5 179251037 179251037 + Missense_Mutation SNP C C T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr5:179251037C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W COADREAD 5 179250952 179250952 + Silent SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:179250952T>C c.396T>C c.(394-396)aaT>aaC p.N132N COADREAD 5 179251006 179251006 + Silent SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr5:179251006G>A c.450G>A c.(448-450)ttG>ttA p.L150L COADREAD 5 179251037 179251037 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:179251037C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W COADREAD 5 179251037 179251037 + Missense_Mutation SNP C C T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr5:179251037C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W COADREAD 5 179263547 179263547 + Missense_Mutation SNP C C T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr5:179263547C>T c.1277C>T c.(1276-1278)gCg>gTg p.A426V DLBC 5 179260661 179260661 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:179260661G>A c.1044G>A c.(1042-1044)ccG>ccA p.P348P DLBC 5 179263542 179263542 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:179263542C>T c.1272C>T c.(1270-1272)atC>atT p.I424I ESCA 5 179260710 179260710 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr5:179260710A>T c.1093A>T c.(1093-1095)Agc>Tgc p.S365C GBM 5 179260112 179260114 + In_Frame_Del DEL GAG GAG - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 g.chr5:179260112_179260114delGAG c.835_837delGAG c.(835-837)gagdel p.E280del GBMLGG 5 179247941 179247941 + Missense_Mutation SNP C C T TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr5:179247941C>T c.5C>T c.(4-6)gCg>gTg p.A2V GBMLGG 5 179250876 179250876 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:179250876G>A c.320G>A c.(319-321)cGg>cAg p.R107Q GBMLGG 5 179260112 179260114 + In_Frame_Del DEL GAG GAG - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 g.chr5:179260112_179260114delGAG c.835_837delGAG c.(835-837)gagdel p.E280del HNSC 5 179260066 179260066 + Silent SNP G G A TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr5:179260066G>A c.789G>A c.(787-789)ggG>ggA p.G263G LGG 5 179247941 179247941 + Missense_Mutation SNP C C T TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr5:179247941C>T c.5C>T c.(4-6)gCg>gTg p.A2V LGG 5 179250876 179250876 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:179250876G>A c.320G>A c.(319-321)cGg>cAg p.R107Q LIHC 5 179260608 179260608 + Missense_Mutation SNP T T A TCGA-DD-AAD5-01A-11D-A40R-10 TCGA-DD-AAD5-10A-01D-A40U-10 g.chr5:179260608T>A c.991T>A c.(991-993)Tgt>Agt p.C331S LUAD 5 179249978 179249978 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr5:179249978G>T c.226G>T c.(226-228)Gcc>Tcc p.A76S LUAD 5 179250038 179250038 + Nonsense_Mutation SNP C C T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr5:179250038C>T c.286C>T c.(286-288)Cga>Tga p.R96* LUAD 5 179250885 179250885 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr5:179250885G>T c.329G>T c.(328-330)cGc>cTc p.R110L LUAD 5 179251243 179251243 + Nonsense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr5:179251243G>A c.593G>A c.(592-594)tGg>tAg p.W198* LUAD 5 179252158 179252158 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:179252158C>T c.686C>T c.(685-687)tCg>tTg p.S229L LUAD 5 179260106 179260106 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 g.chr5:179260106A>G c.829A>G c.(829-831)Agc>Ggc p.S277G LUSC 5 179249985 179249985 + Missense_Mutation SNP C C T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr5:179249985C>T c.233C>T c.(232-234)tCc>tTc p.S78F OV 5 179251006 179251006 + Silent SNP G G A TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 g.chr5:179251006G>A c.450G>A c.(448-450)ttG>ttA p.L150L PAAD 5 179247944 179247944 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr5:179247944C>T c.8C>T c.(7-9)tCg>tTg p.S3L PAAD 5 179248115 179248115 + Missense_Mutation SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr5:179248115C>G c.179C>G c.(178-180)cCt>cGt p.P60R PAAD 5 179252186 179252186 + Missense_Mutation SNP G G C TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr5:179252186G>C c.714G>C c.(712-714)aaG>aaC p.K238N PAAD 5 179260104 179260104 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:179260104C>A c.827C>A c.(826-828)tCc>tAc p.S276Y PAAD 5 179260107 179260107 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:179260107G>T c.830G>T c.(829-831)aGc>aTc p.S277I READ 5 179263547 179263547 + Missense_Mutation SNP C C T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr5:179263547C>T c.1277C>T c.(1276-1278)gCg>gTg p.A426V SKCM 5 179250931 179250931 + Missense_Mutation SNP T T A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr5:179250931T>A c.375T>A c.(373-375)aaT>aaA p.N125K SKCM 5 179251261 179251261 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr5:179251261G>A c.611G>A c.(610-612)gGa>gAa p.G204E SKCM 5 179252196 179252196 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:179252196G>A c.724G>A c.(724-726)Gag>Aag p.E242K SKCM 5 179260650 179260650 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr5:179260650G>A c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K SKCM 5 179263543 179263543 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr5:179263543G>A c.1273G>A c.(1273-1275)Gga>Aga p.G425R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 179264860 179264860 single base substitution A C 3_prime_UTR_variant BLCA-CN 5 179264860 179264860 single base substitution A C downstream_gene_variant BLCA-CN 5 179267949 179267949 single base substitution T C downstream_gene_variant BLCA-US 5 179251010 179251010 single base substitution A T 3_prime_UTR_variant BLCA-US 5 179251010 179251010 single base substitution A T downstream_gene_variant BLCA-US 5 179251010 179251010 single base substitution A T exon_variant BLCA-US 5 179251010 179251010 single base substitution A T missense_variant S152C 454A>T BLCA-US 5 179251010 179251010 single base substitution A T missense_variant S175C 523A>T BLCA-US 5 179251010 179251010 single base substitution A T missense_variant S68C 202A>T BLCA-US 5 179263552 179263552 single base substitution C T downstream_gene_variant BLCA-US 5 179263552 179263552 single base substitution C T synonymous_variant L344L 1030C>T BLCA-US 5 179263552 179263552 single base substitution C T synonymous_variant L344L 1032C>T BLCA-US 5 179263552 179263552 single base substitution C T synonymous_variant L428L 1282C>T BLCA-US 5 179263587 179263587 single base substitution G A downstream_gene_variant BLCA-US 5 179263587 179263587 single base substitution G A missense_variant R356H 1067G>A BLCA-US 5 179263587 179263587 single base substitution G A synonymous_variant P355P 1065G>A BLCA-US 5 179263587 179263587 single base substitution G A synonymous_variant P439P 1317G>A BLCA-US 5 179264605 179264605 single base substitution C G 3_prime_UTR_variant BLCA-US 5 179264605 179264605 single base substitution C G downstream_gene_variant BLCA-US 5 179264671 179264700 deletion of <=200bp TGAAGAGACCTTGGCTGCTCACTGTCCACA - 3_prime_UTR_variant BLCA-US 5 179264671 179264700 deletion of <=200bp TGAAGAGACCTTGGCTGCTCACTGTCCACA - downstream_gene_variant BRCA-EU 5 179228503 179228503 single base substitution C T upstream_gene_variant BRCA-EU 5 179229294 179229294 single base substitution C G upstream_gene_variant BRCA-EU 5 179229361 179229361 single base substitution C G upstream_gene_variant BRCA-EU 5 179229932 179229932 single base substitution C G upstream_gene_variant BRCA-EU 5 179232203 179232203 single base substitution C G upstream_gene_variant BRCA-EU 5 179233107 179233107 deletion of <=200bp G - upstream_gene_variant BRCA-EU 5 179233458 179233458 single base substitution G C 5_prime_UTR_variant BRCA-EU 5 179233458 179233458 single base substitution G C exon_variant BRCA-EU 5 179233458 179233458 single base substitution G C upstream_gene_variant BRCA-EU 5 179234221 179234223 deletion of <=200bp CTC - intron_variant BRCA-EU 5 179234221 179234223 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 5 179235404 179235404 single base substitution G A exon_variant BRCA-EU 5 179235404 179235404 single base substitution G A intron_variant BRCA-EU 5 179235404 179235404 single base substitution G A upstream_gene_variant BRCA-EU 5 179235815 179235815 single base substitution G T intron_variant BRCA-EU 5 179235815 179235815 single base substitution G T upstream_gene_variant BRCA-EU 5 179237934 179237934 single base substitution C T intron_variant BRCA-EU 5 179237934 179237934 single base substitution C T upstream_gene_variant BRCA-EU 5 179238344 179238344 single base substitution A T intron_variant BRCA-EU 5 179238344 179238344 single base substitution A T upstream_gene_variant BRCA-EU 5 179239694 179239694 single base substitution G C exon_variant BRCA-EU 5 179239694 179239694 single base substitution G C intron_variant BRCA-EU 5 179241242 179241242 single base substitution C T downstream_gene_variant BRCA-EU 5 179241242 179241242 single base substitution C T intron_variant BRCA-EU 5 179241242 179241242 single base substitution C T upstream_gene_variant BRCA-EU 5 179241700 179241700 single base substitution C T downstream_gene_variant BRCA-EU 5 179241700 179241700 single base substitution C T intron_variant BRCA-EU 5 179241700 179241700 single base substitution C T upstream_gene_variant BRCA-EU 5 179242098 179242098 single base substitution T C downstream_gene_variant BRCA-EU 5 179242098 179242098 single base substitution T C intron_variant BRCA-EU 5 179242098 179242098 single base substitution T C upstream_gene_variant BRCA-EU 5 179242152 179242152 single base substitution C T downstream_gene_variant BRCA-EU 5 179242152 179242152 single base substitution C T intron_variant BRCA-EU 5 179242152 179242152 single base substitution C T upstream_gene_variant BRCA-EU 5 179243190 179243190 single base substitution C A downstream_gene_variant BRCA-EU 5 179243190 179243190 single base substitution C A intron_variant BRCA-EU 5 179243190 179243190 single base substitution C A upstream_gene_variant BRCA-EU 5 179243217 179243217 single base substitution C T downstream_gene_variant BRCA-EU 5 179243217 179243217 single base substitution C T intron_variant BRCA-EU 5 179243217 179243217 single base substitution C T upstream_gene_variant BRCA-EU 5 179245149 179245149 single base substitution G A downstream_gene_variant BRCA-EU 5 179245149 179245149 single base substitution G A intron_variant BRCA-EU 5 179245149 179245149 single base substitution G A upstream_gene_variant BRCA-EU 5 179247311 179247311 single base substitution C A exon_variant BRCA-EU 5 179247311 179247311 single base substitution C A intron_variant BRCA-EU 5 179247311 179247311 single base substitution C A upstream_gene_variant BRCA-EU 5 179247445 179247445 single base substitution G C intron_variant BRCA-EU 5 179247445 179247445 single base substitution G C upstream_gene_variant BRCA-EU 5 179247933 179247933 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 179247933 179247933 single base substitution C T intron_variant BRCA-EU 5 179247933 179247933 single base substitution C T upstream_gene_variant BRCA-EU 5 179249013 179249013 single base substitution A G intron_variant BRCA-EU 5 179249013 179249013 single base substitution A G upstream_gene_variant BRCA-EU 5 179249058 179249058 single base substitution G T intron_variant BRCA-EU 5 179249058 179249058 single base substitution G T upstream_gene_variant BRCA-EU 5 179250413 179250413 single base substitution G A intron_variant BRCA-EU 5 179250413 179250413 single base substitution G A upstream_gene_variant BRCA-EU 5 179250534 179250534 single base substitution G C intron_variant BRCA-EU 5 179250534 179250534 single base substitution G C upstream_gene_variant BRCA-EU 5 179252240 179252240 single base substitution C T downstream_gene_variant BRCA-EU 5 179252240 179252240 single base substitution C T intron_variant BRCA-EU 5 179253098 179253098 single base substitution C T downstream_gene_variant BRCA-EU 5 179253098 179253098 single base substitution C T intron_variant BRCA-EU 5 179253499 179253499 single base substitution C G downstream_gene_variant BRCA-EU 5 179253499 179253499 single base substitution C G intron_variant BRCA-EU 5 179254085 179254085 single base substitution C G downstream_gene_variant BRCA-EU 5 179254085 179254085 single base substitution C G intron_variant BRCA-EU 5 179254217 179254217 single base substitution C G downstream_gene_variant BRCA-EU 5 179254217 179254217 single base substitution C G intron_variant BRCA-EU 5 179260808 179260808 single base substitution A G downstream_gene_variant BRCA-EU 5 179260808 179260808 single base substitution A G intron_variant BRCA-EU 5 179261533 179261533 single base substitution T C downstream_gene_variant BRCA-EU 5 179261533 179261533 single base substitution T C intron_variant BRCA-EU 5 179262743 179262743 single base substitution C T downstream_gene_variant BRCA-EU 5 179262743 179262743 single base substitution C T intron_variant BRCA-EU 5 179263095 179263095 single base substitution C T downstream_gene_variant BRCA-EU 5 179263095 179263095 single base substitution C T intron_variant BRCA-EU 5 179263560 179263560 single base substitution C T downstream_gene_variant BRCA-EU 5 179263560 179263560 single base substitution C T missense_variant P347L 1040C>T BRCA-EU 5 179263560 179263560 single base substitution C T synonymous_variant T346T 1038C>T BRCA-EU 5 179263560 179263560 single base substitution C T synonymous_variant T430T 1290C>T BRCA-EU 5 179264088 179264088 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 179264088 179264088 single base substitution G A downstream_gene_variant BRCA-EU 5 179265073 179265073 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179265073 179265073 single base substitution C T downstream_gene_variant BRCA-EU 5 179265882 179265882 single base substitution C A downstream_gene_variant BRCA-EU 5 179266138 179266138 single base substitution C G downstream_gene_variant BRCA-EU 5 179266657 179266657 single base substitution C T downstream_gene_variant BRCA-EU 5 179266709 179266709 single base substitution G T downstream_gene_variant BRCA-EU 5 179268575 179268575 single base substitution C T downstream_gene_variant BRCA-EU 5 179269644 179269644 single base substitution G C downstream_gene_variant BRCA-EU 5 179269922 179269922 single base substitution T A downstream_gene_variant BRCA-FR 5 179235404 179235404 single base substitution G A exon_variant BRCA-FR 5 179235404 179235404 single base substitution G A intron_variant BRCA-FR 5 179235404 179235404 single base substitution G A upstream_gene_variant BRCA-FR 5 179235982 179235982 single base substitution C T intron_variant BRCA-FR 5 179235982 179235982 single base substitution C T upstream_gene_variant BRCA-FR 5 179239694 179239694 single base substitution G C exon_variant BRCA-FR 5 179239694 179239694 single base substitution G C intron_variant BRCA-FR 5 179253499 179253499 single base substitution C G downstream_gene_variant BRCA-FR 5 179253499 179253499 single base substitution C G intron_variant BRCA-FR 5 179254085 179254085 single base substitution C G downstream_gene_variant BRCA-FR 5 179254085 179254085 single base substitution C G intron_variant BRCA-FR 5 179254217 179254217 single base substitution C G downstream_gene_variant BRCA-FR 5 179254217 179254217 single base substitution C G intron_variant BRCA-FR 5 179257339 179257339 single base substitution C G intron_variant BRCA-FR 5 179258576 179258576 single base substitution C T intron_variant BRCA-FR 5 179265073 179265073 single base substitution C T 3_prime_UTR_variant BRCA-FR 5 179265073 179265073 single base substitution C T downstream_gene_variant BRCA-UK 5 179235154 179235154 single base substitution G A exon_variant BRCA-UK 5 179235154 179235154 single base substitution G A intron_variant BRCA-UK 5 179235154 179235154 single base substitution G A upstream_gene_variant BRCA-UK 5 179250029 179250029 single base substitution G T 3_prime_UTR_variant BRCA-UK 5 179250029 179250029 single base substitution G T exon_variant BRCA-UK 5 179250029 179250029 single base substitution G T missense_variant D116Y 346G>T BRCA-UK 5 179250029 179250029 single base substitution G T missense_variant D93Y 277G>T BRCA-UK 5 179250029 179250029 single base substitution G T missense_variant D9Y 25G>T BRCA-UK 5 179250029 179250029 single base substitution G T upstream_gene_variant BRCA-UK 5 179269044 179269044 single base substitution C T downstream_gene_variant BRCA-US 5 179251050 179251050 single base substitution A G 3_prime_UTR_variant BRCA-US 5 179251050 179251050 single base substitution A G downstream_gene_variant BRCA-US 5 179251050 179251050 single base substitution A G exon_variant BRCA-US 5 179251050 179251050 single base substitution A G missense_variant K165R 494A>G BRCA-US 5 179251050 179251050 single base substitution A G missense_variant K188R 563A>G BRCA-US 5 179251050 179251050 single base substitution A G missense_variant K81R 242A>G BRCA-US 5 179260248 179260248 single base substitution C G exon_variant BRCA-US 5 179260248 179260248 single base substitution C G intron_variant BRCA-US 5 179260248 179260248 single base substitution C G splice_donor_variant BRCA-US 5 179260660 179260660 single base substitution C T downstream_gene_variant BRCA-US 5 179260660 179260660 single base substitution C T intron_variant BRCA-US 5 179260660 179260660 single base substitution C T missense_variant P264L 791C>T BRCA-US 5 179260660 179260660 single base substitution C T missense_variant P348L 1043C>T BRCA-US 5 179263500 179263500 single base substitution C T downstream_gene_variant BRCA-US 5 179263500 179263500 single base substitution C T missense_variant A327V 980C>T BRCA-US 5 179263500 179263500 single base substitution C T synonymous_variant G326G 978C>T BRCA-US 5 179263500 179263500 single base substitution C T synonymous_variant G410G 1230C>T BRCA-US 5 179263530 179263530 single base substitution G T downstream_gene_variant BRCA-US 5 179263530 179263530 single base substitution G T missense_variant K336N 1008G>T BRCA-US 5 179263530 179263530 single base substitution G T missense_variant K420N 1260G>T BRCA-US 5 179263530 179263530 single base substitution G T missense_variant R337I 1010G>T BRCA-US 5 179264713 179264713 single base substitution C G 3_prime_UTR_variant BRCA-US 5 179264713 179264713 single base substitution C G downstream_gene_variant BTCA-JP 5 179228489 179228489 single base substitution C T upstream_gene_variant BTCA-JP 5 179228504 179228504 deletion of <=200bp G - upstream_gene_variant BTCA-JP 5 179247797 179247797 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 5 179247797 179247797 single base substitution C T intron_variant BTCA-JP 5 179247797 179247797 single base substitution C T upstream_gene_variant CESC-US 5 179260716 179260716 single base substitution C G downstream_gene_variant CESC-US 5 179260716 179260716 single base substitution C G intron_variant CESC-US 5 179260716 179260716 single base substitution C G missense_variant L283V 847C>G CESC-US 5 179260716 179260716 single base substitution C G missense_variant L367V 1099C>G CLLE-ES 5 179232001 179232001 single base substitution C A upstream_gene_variant CLLE-ES 5 179259332 179259332 single base substitution T A intron_variant CLLE-ES 5 179261221 179261221 single base substitution T G downstream_gene_variant CLLE-ES 5 179261221 179261221 single base substitution T G intron_variant COAD-US 5 179229025 179229025 single base substitution C T upstream_gene_variant COAD-US 5 179251037 179251037 single base substitution C T 3_prime_UTR_variant COAD-US 5 179251037 179251037 single base substitution C T downstream_gene_variant COAD-US 5 179251037 179251037 single base substitution C T exon_variant COAD-US 5 179251037 179251037 single base substitution C T missense_variant R161W 481C>T COAD-US 5 179251037 179251037 single base substitution C T missense_variant R184W 550C>T COAD-US 5 179251037 179251037 single base substitution C T missense_variant R77W 229C>T COAD-US 5 179267872 179267874 deletion of <=200bp CTT - downstream_gene_variant COAD-US 5 179267905 179267905 single base substitution C T downstream_gene_variant COCA-CN 5 179228748 179228748 single base substitution G A upstream_gene_variant COCA-CN 5 179228860 179228860 single base substitution G A upstream_gene_variant COCA-CN 5 179234522 179234522 single base substitution A C exon_variant COCA-CN 5 179234522 179234522 single base substitution A C intron_variant COCA-CN 5 179234522 179234522 single base substitution A C upstream_gene_variant COCA-CN 5 179250918 179250918 single base substitution T C 3_prime_UTR_variant COCA-CN 5 179250918 179250918 single base substitution T C exon_variant COCA-CN 5 179250918 179250918 single base substitution T C missense_variant M121T 362T>C COCA-CN 5 179250918 179250918 single base substitution T C missense_variant M144T 431T>C COCA-CN 5 179250918 179250918 single base substitution T C missense_variant M37T 110T>C COCA-CN 5 179256685 179256685 single base substitution T A downstream_gene_variant COCA-CN 5 179256685 179256685 single base substitution T A intron_variant COCA-CN 5 179256686 179256686 single base substitution T A downstream_gene_variant COCA-CN 5 179256686 179256686 single base substitution T A intron_variant COCA-CN 5 179256687 179256687 single base substitution T A downstream_gene_variant COCA-CN 5 179256687 179256687 single base substitution T A intron_variant COCA-CN 5 179256688 179256688 single base substitution T A downstream_gene_variant COCA-CN 5 179256688 179256688 single base substitution T A intron_variant COCA-CN 5 179256689 179256689 single base substitution T A downstream_gene_variant COCA-CN 5 179256689 179256689 single base substitution T A intron_variant COCA-CN 5 179256690 179256690 single base substitution T A downstream_gene_variant COCA-CN 5 179256690 179256690 single base substitution T A intron_variant COCA-CN 5 179257127 179257127 single base substitution C A downstream_gene_variant COCA-CN 5 179257127 179257127 single base substitution C A intron_variant COCA-CN 5 179260184 179260184 single base substitution G A exon_variant COCA-CN 5 179260184 179260184 single base substitution G A missense_variant A219T 655G>A COCA-CN 5 179260184 179260184 single base substitution G A missense_variant A303T 907G>A COCA-CN 5 179260493 179260493 single base substitution C T downstream_gene_variant COCA-CN 5 179260493 179260493 single base substitution C T intron_variant COCA-CN 5 179262233 179262233 single base substitution T C downstream_gene_variant COCA-CN 5 179262233 179262233 single base substitution T C intron_variant COCA-CN 5 179263548 179263548 single base substitution G A downstream_gene_variant COCA-CN 5 179263548 179263548 single base substitution G A missense_variant R343Q 1028G>A COCA-CN 5 179263548 179263548 single base substitution G A synonymous_variant A342A 1026G>A COCA-CN 5 179263548 179263548 single base substitution G A synonymous_variant A426A 1278G>A COCA-CN 5 179263778 179263778 single base substitution T C 3_prime_UTR_variant COCA-CN 5 179263778 179263778 single base substitution T C downstream_gene_variant COCA-CN 5 179267748 179267748 single base substitution C T downstream_gene_variant COCA-CN 5 179268779 179268779 single base substitution C T downstream_gene_variant ESAD-UK 5 179228822 179228822 single base substitution C T upstream_gene_variant ESAD-UK 5 179230073 179230073 single base substitution T G upstream_gene_variant ESAD-UK 5 179230081 179230081 single base substitution C T upstream_gene_variant ESAD-UK 5 179232431 179232431 single base substitution C T upstream_gene_variant ESAD-UK 5 179233090 179233090 single base substitution G A upstream_gene_variant ESAD-UK 5 179237991 179237991 single base substitution G A intron_variant ESAD-UK 5 179237991 179237991 single base substitution G A upstream_gene_variant ESAD-UK 5 179239450 179239450 single base substitution C T exon_variant ESAD-UK 5 179239450 179239450 single base substitution C T intron_variant ESAD-UK 5 179239997 179239997 single base substitution C A exon_variant ESAD-UK 5 179239997 179239997 single base substitution C A intron_variant ESAD-UK 5 179242419 179242419 single base substitution A G downstream_gene_variant ESAD-UK 5 179242419 179242419 single base substitution A G intron_variant ESAD-UK 5 179242419 179242419 single base substitution A G upstream_gene_variant ESAD-UK 5 179244422 179244422 single base substitution C T downstream_gene_variant ESAD-UK 5 179244422 179244422 single base substitution C T intron_variant ESAD-UK 5 179244422 179244422 single base substitution C T upstream_gene_variant ESAD-UK 5 179244732 179244732 single base substitution C T downstream_gene_variant ESAD-UK 5 179244732 179244732 single base substitution C T intron_variant ESAD-UK 5 179244732 179244732 single base substitution C T upstream_gene_variant ESAD-UK 5 179245217 179245217 single base substitution G A downstream_gene_variant ESAD-UK 5 179245217 179245217 single base substitution G A intron_variant ESAD-UK 5 179245217 179245217 single base substitution G A upstream_gene_variant ESAD-UK 5 179245418 179245418 single base substitution C T downstream_gene_variant ESAD-UK 5 179245418 179245418 single base substitution C T intron_variant ESAD-UK 5 179245418 179245418 single base substitution C T upstream_gene_variant ESAD-UK 5 179246196 179246196 single base substitution G C intron_variant ESAD-UK 5 179246196 179246196 single base substitution G C upstream_gene_variant ESAD-UK 5 179247027 179247027 single base substitution G C intron_variant ESAD-UK 5 179247027 179247027 single base substitution G C upstream_gene_variant ESAD-UK 5 179247029 179247029 single base substitution C T intron_variant ESAD-UK 5 179247029 179247029 single base substitution C T upstream_gene_variant ESAD-UK 5 179248555 179248555 single base substitution T G exon_variant ESAD-UK 5 179248555 179248555 single base substitution T G intron_variant ESAD-UK 5 179248555 179248555 single base substitution T G upstream_gene_variant ESAD-UK 5 179256068 179256068 single base substitution T C downstream_gene_variant ESAD-UK 5 179256068 179256068 single base substitution T C intron_variant ESAD-UK 5 179257788 179257788 single base substitution C T intron_variant ESAD-UK 5 179258584 179258584 single base substitution C T intron_variant ESAD-UK 5 179265467 179265467 single base substitution G C downstream_gene_variant ESAD-UK 5 179269210 179269210 single base substitution C T downstream_gene_variant ESAD-UK 5 179269536 179269536 single base substitution A C downstream_gene_variant ESCA-CN 5 179228995 179228995 single base substitution G A upstream_gene_variant ESCA-CN 5 179251042 179251042 single base substitution G A 3_prime_UTR_variant ESCA-CN 5 179251042 179251042 single base substitution G A downstream_gene_variant ESCA-CN 5 179251042 179251042 single base substitution G A exon_variant ESCA-CN 5 179251042 179251042 single base substitution G A synonymous_variant G162G 486G>A ESCA-CN 5 179251042 179251042 single base substitution G A synonymous_variant G185G 555G>A ESCA-CN 5 179251042 179251042 single base substitution G A synonymous_variant G78G 234G>A GBM-US 5 179260112 179260114 deletion of <=200bp GAG - exon_variant GBM-US 5 179260112 179260114 deletion of <=200bp GAG - inframe_deletion E195 GBM-US 5 179260112 179260114 deletion of <=200bp GAG - inframe_deletion E279 KIRC-US 5 179228972 179228972 single base substitution G T upstream_gene_variant KIRP-US 5 179250983 179250983 single base substitution A T 3_prime_UTR_variant KIRP-US 5 179250983 179250983 single base substitution A T downstream_gene_variant KIRP-US 5 179250983 179250983 single base substitution A T exon_variant KIRP-US 5 179250983 179250983 single base substitution A T missense_variant S143C 427A>T KIRP-US 5 179250983 179250983 single base substitution A T missense_variant S166C 496A>T KIRP-US 5 179250983 179250983 single base substitution A T missense_variant S59C 175A>T LAML-KR 5 179236191 179236191 single base substitution G C intron_variant LAML-KR 5 179236191 179236191 single base substitution G C upstream_gene_variant LAML-KR 5 179238361 179238361 single base substitution A T intron_variant LAML-KR 5 179238361 179238361 single base substitution A T upstream_gene_variant LAML-KR 5 179261808 179261808 single base substitution C T downstream_gene_variant LAML-KR 5 179261808 179261808 single base substitution C T intron_variant LAML-KR 5 179261819 179261819 single base substitution G C downstream_gene_variant LAML-KR 5 179261819 179261819 single base substitution G C intron_variant LGG-US 5 179247941 179247941 single base substitution C T 5_prime_UTR_variant LGG-US 5 179247941 179247941 single base substitution C T exon_variant LGG-US 5 179247941 179247941 single base substitution C T intron_variant LGG-US 5 179247941 179247941 single base substitution C T missense_variant A2V 5C>T LGG-US 5 179247941 179247941 single base substitution C T upstream_gene_variant LICA-FR 5 179228995 179228995 single base substitution G T upstream_gene_variant LICA-FR 5 179233504 179233504 single base substitution G T 5_prime_UTR_variant LICA-FR 5 179233504 179233504 single base substitution G T exon_variant LICA-FR 5 179233504 179233504 single base substitution G T upstream_gene_variant LICA-FR 5 179239997 179239997 single base substitution C A exon_variant LICA-FR 5 179239997 179239997 single base substitution C A intron_variant LICA-FR 5 179250969 179250969 single base substitution C T 3_prime_UTR_variant LICA-FR 5 179250969 179250969 single base substitution C T downstream_gene_variant LICA-FR 5 179250969 179250969 single base substitution C T exon_variant LICA-FR 5 179250969 179250969 single base substitution C T missense_variant T138I 413C>T LICA-FR 5 179250969 179250969 single base substitution C T missense_variant T161I 482C>T LICA-FR 5 179250969 179250969 single base substitution C T missense_variant T54I 161C>T LICA-FR 5 179260586 179260586 single base substitution G A downstream_gene_variant LICA-FR 5 179260586 179260586 single base substitution G A intron_variant LICA-FR 5 179260586 179260586 single base substitution G A splice_acceptor_variant LICA-FR 5 179265274 179265274 single base substitution A T downstream_gene_variant LINC-JP 5 179228604 179228604 single base substitution T G upstream_gene_variant LINC-JP 5 179229152 179229152 single base substitution T C upstream_gene_variant LINC-JP 5 179246143 179246143 single base substitution G C intron_variant LINC-JP 5 179246143 179246143 single base substitution G C upstream_gene_variant LINC-JP 5 179246716 179246716 insertion of <=200bp - GGAT intron_variant LINC-JP 5 179246716 179246716 insertion of <=200bp - GGAT upstream_gene_variant LINC-JP 5 179247878 179247878 insertion of <=200bp - A 5_prime_UTR_variant LINC-JP 5 179247878 179247878 insertion of <=200bp - A intron_variant LINC-JP 5 179247878 179247878 insertion of <=200bp - A upstream_gene_variant LINC-JP 5 179247951 179247951 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 5 179247951 179247951 single base substitution C T exon_variant LINC-JP 5 179247951 179247951 single base substitution C T intron_variant LINC-JP 5 179247951 179247951 single base substitution C T synonymous_variant T5T 15C>T LINC-JP 5 179247951 179247951 single base substitution C T upstream_gene_variant LINC-JP 5 179248587 179248587 single base substitution G A 3_prime_UTR_variant LINC-JP 5 179248587 179248587 single base substitution G A intron_variant LINC-JP 5 179248587 179248587 single base substitution G A upstream_gene_variant LINC-JP 5 179250481 179250483 deletion of <=200bp GAC - intron_variant LINC-JP 5 179250481 179250483 deletion of <=200bp GAC - upstream_gene_variant LINC-JP 5 179251264 179251264 single base substitution A G downstream_gene_variant LINC-JP 5 179251264 179251264 single base substitution A G exon_variant LINC-JP 5 179251264 179251264 single base substitution A G missense_variant N121S 362A>G LINC-JP 5 179251264 179251264 single base substitution A G missense_variant N205S 614A>G LINC-JP 5 179254053 179254053 single base substitution A G downstream_gene_variant LINC-JP 5 179254053 179254053 single base substitution A G intron_variant LINC-JP 5 179264385 179264385 single base substitution C T 3_prime_UTR_variant LINC-JP 5 179264385 179264385 single base substitution C T downstream_gene_variant LINC-JP 5 179264393 179264393 single base substitution A T 3_prime_UTR_variant LINC-JP 5 179264393 179264393 single base substitution A T downstream_gene_variant LINC-JP 5 179264532 179264532 single base substitution C G 3_prime_UTR_variant LINC-JP 5 179264532 179264532 single base substitution C G downstream_gene_variant LINC-JP 5 179266434 179266434 single base substitution C A downstream_gene_variant LINC-JP 5 179266979 179266979 single base substitution C T downstream_gene_variant LINC-JP 5 179269742 179269742 single base substitution T G downstream_gene_variant LIRI-JP 5 179230499 179230499 single base substitution G C upstream_gene_variant LIRI-JP 5 179239962 179239962 insertion of <=200bp - AA exon_variant LIRI-JP 5 179239962 179239962 insertion of <=200bp - AA intron_variant LIRI-JP 5 179244677 179244677 single base substitution C T downstream_gene_variant LIRI-JP 5 179244677 179244677 single base substitution C T intron_variant LIRI-JP 5 179244677 179244677 single base substitution C T upstream_gene_variant LIRI-JP 5 179246700 179246700 single base substitution T C intron_variant LIRI-JP 5 179246700 179246700 single base substitution T C upstream_gene_variant LIRI-JP 5 179248926 179248926 single base substitution A G intron_variant LIRI-JP 5 179248926 179248926 single base substitution A G upstream_gene_variant LIRI-JP 5 179252083 179252083 single base substitution A G downstream_gene_variant LIRI-JP 5 179252083 179252083 single base substitution A G intron_variant LIRI-JP 5 179252912 179252912 single base substitution G T downstream_gene_variant LIRI-JP 5 179252912 179252912 single base substitution G T intron_variant LIRI-JP 5 179256763 179256763 single base substitution A G downstream_gene_variant LIRI-JP 5 179256763 179256763 single base substitution A G intron_variant LIRI-JP 5 179258434 179258434 single base substitution G T intron_variant LIRI-JP 5 179259367 179259367 single base substitution C T intron_variant LIRI-JP 5 179260171 179260172 deletion of <=200bp GA - exon_variant LIRI-JP 5 179260171 179260172 deletion of <=200bp GA - frameshift_variant GN214 LIRI-JP 5 179260171 179260172 deletion of <=200bp GA - frameshift_variant GN298 LIRI-JP 5 179260199 179260199 single base substitution G C exon_variant LIRI-JP 5 179260199 179260199 single base substitution G C missense_variant A224P 670G>C LIRI-JP 5 179260199 179260199 single base substitution G C missense_variant A308P 922G>C LIRI-JP 5 179260377 179260377 single base substitution A C exon_variant LIRI-JP 5 179260377 179260377 single base substitution A C intron_variant LIRI-JP 5 179261415 179261415 single base substitution A G downstream_gene_variant LIRI-JP 5 179261415 179261415 single base substitution A G intron_variant LIRI-JP 5 179262600 179262600 single base substitution C T downstream_gene_variant LIRI-JP 5 179262600 179262600 single base substitution C T intron_variant LIRI-JP 5 179263290 179263290 single base substitution C T downstream_gene_variant LIRI-JP 5 179263290 179263290 single base substitution C T intron_variant LIRI-JP 5 179264440 179264440 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 179264440 179264440 single base substitution C T downstream_gene_variant LIRI-JP 5 179266048 179266048 single base substitution C A downstream_gene_variant LIRI-JP 5 179266576 179266577 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 5 179267014 179267014 single base substitution A G downstream_gene_variant LIRI-JP 5 179267980 179267980 single base substitution G A downstream_gene_variant LIRI-JP 5 179268746 179268746 single base substitution G A downstream_gene_variant LUSC-KR 5 179234942 179234942 single base substitution C G exon_variant LUSC-KR 5 179234942 179234942 single base substitution C G intron_variant LUSC-KR 5 179234942 179234942 single base substitution C G upstream_gene_variant LUSC-KR 5 179252036 179252036 single base substitution G A downstream_gene_variant LUSC-KR 5 179252036 179252036 single base substitution G A intron_variant LUSC-KR 5 179254392 179254392 single base substitution C G downstream_gene_variant LUSC-KR 5 179254392 179254392 single base substitution C G intron_variant LUSC-KR 5 179254482 179254482 single base substitution C T downstream_gene_variant LUSC-KR 5 179254482 179254482 single base substitution C T intron_variant LUSC-KR 5 179255211 179255211 single base substitution G T downstream_gene_variant LUSC-KR 5 179255211 179255211 single base substitution G T intron_variant LUSC-KR 5 179257419 179257419 single base substitution C G intron_variant LUSC-KR 5 179261659 179261659 single base substitution T C downstream_gene_variant LUSC-KR 5 179261659 179261659 single base substitution T C intron_variant LUSC-KR 5 179261808 179261808 single base substitution C T downstream_gene_variant LUSC-KR 5 179261808 179261808 single base substitution C T intron_variant LUSC-KR 5 179269830 179269830 single base substitution C G downstream_gene_variant LUSC-US 5 179249985 179249985 single base substitution C T 3_prime_UTR_variant LUSC-US 5 179249985 179249985 single base substitution C T 5_prime_UTR_variant LUSC-US 5 179249985 179249985 single base substitution C T exon_variant LUSC-US 5 179249985 179249985 single base substitution C T intron_variant LUSC-US 5 179249985 179249985 single base substitution C T missense_variant S101F 302C>T LUSC-US 5 179249985 179249985 single base substitution C T missense_variant S78F 233C>T LUSC-US 5 179249985 179249985 single base substitution C T upstream_gene_variant LUSC-US 5 179264608 179264608 single base substitution G A 3_prime_UTR_variant LUSC-US 5 179264608 179264608 single base substitution G A downstream_gene_variant MALY-DE 5 179229184 179229184 single base substitution C T upstream_gene_variant MALY-DE 5 179235807 179235807 single base substitution T A intron_variant MALY-DE 5 179235807 179235807 single base substitution T A upstream_gene_variant MALY-DE 5 179248265 179248265 single base substitution C T intron_variant MALY-DE 5 179248265 179248265 single base substitution C T upstream_gene_variant MALY-DE 5 179253004 179253004 single base substitution G A downstream_gene_variant MALY-DE 5 179253004 179253004 single base substitution G A intron_variant MALY-DE 5 179268150 179268150 single base substitution A G downstream_gene_variant MELA-AU 5 179228447 179228447 single base substitution G A upstream_gene_variant MELA-AU 5 179228498 179228498 single base substitution G A upstream_gene_variant MELA-AU 5 179228885 179228885 single base substitution G A upstream_gene_variant MELA-AU 5 179229070 179229070 single base substitution T G upstream_gene_variant MELA-AU 5 179229324 179229324 single base substitution C T upstream_gene_variant MELA-AU 5 179229335 179229335 single base substitution C T upstream_gene_variant MELA-AU 5 179229407 179229407 single base substitution C T upstream_gene_variant MELA-AU 5 179229499 179229499 single base substitution C A upstream_gene_variant MELA-AU 5 179230177 179230177 single base substitution G A upstream_gene_variant MELA-AU 5 179230542 179230542 single base substitution C A upstream_gene_variant MELA-AU 5 179230827 179230827 single base substitution G A upstream_gene_variant MELA-AU 5 179231378 179231378 single base substitution G A upstream_gene_variant MELA-AU 5 179231608 179231608 single base substitution G A upstream_gene_variant MELA-AU 5 179233196 179233196 single base substitution G A upstream_gene_variant MELA-AU 5 179233458 179233458 single base substitution G A 5_prime_UTR_variant MELA-AU 5 179233458 179233458 single base substitution G A exon_variant MELA-AU 5 179233458 179233458 single base substitution G A upstream_gene_variant MELA-AU 5 179234271 179234272 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179234271 179234272 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 179235826 179235826 single base substitution A T intron_variant MELA-AU 5 179235826 179235826 single base substitution A T upstream_gene_variant MELA-AU 5 179236083 179236083 single base substitution T C intron_variant MELA-AU 5 179236083 179236083 single base substitution T C upstream_gene_variant MELA-AU 5 179236538 179236538 single base substitution C T intron_variant MELA-AU 5 179236538 179236538 single base substitution C T upstream_gene_variant MELA-AU 5 179237636 179237636 single base substitution T A intron_variant MELA-AU 5 179237636 179237636 single base substitution T A upstream_gene_variant MELA-AU 5 179238003 179238003 single base substitution G T intron_variant MELA-AU 5 179238003 179238003 single base substitution G T upstream_gene_variant MELA-AU 5 179238326 179238326 single base substitution T C intron_variant MELA-AU 5 179238326 179238326 single base substitution T C upstream_gene_variant MELA-AU 5 179238490 179238490 single base substitution G T intron_variant MELA-AU 5 179238490 179238490 single base substitution G T upstream_gene_variant MELA-AU 5 179239306 179239306 single base substitution C T exon_variant MELA-AU 5 179239306 179239306 single base substitution C T intron_variant MELA-AU 5 179239506 179239506 single base substitution C T exon_variant MELA-AU 5 179239506 179239506 single base substitution C T intron_variant MELA-AU 5 179239619 179239619 single base substitution C T exon_variant MELA-AU 5 179239619 179239619 single base substitution C T intron_variant MELA-AU 5 179240075 179240075 single base substitution C T downstream_gene_variant MELA-AU 5 179240075 179240075 single base substitution C T exon_variant MELA-AU 5 179240075 179240075 single base substitution C T intron_variant MELA-AU 5 179240754 179240754 single base substitution C G downstream_gene_variant MELA-AU 5 179240754 179240754 single base substitution C G intron_variant MELA-AU 5 179240814 179240814 single base substitution G A downstream_gene_variant MELA-AU 5 179240814 179240814 single base substitution G A intron_variant MELA-AU 5 179240992 179240992 single base substitution C T downstream_gene_variant MELA-AU 5 179240992 179240992 single base substitution C T intron_variant MELA-AU 5 179240992 179240992 single base substitution C T upstream_gene_variant MELA-AU 5 179241231 179241231 single base substitution G A downstream_gene_variant MELA-AU 5 179241231 179241231 single base substitution G A intron_variant MELA-AU 5 179241231 179241231 single base substitution G A upstream_gene_variant MELA-AU 5 179241424 179241424 single base substitution C T downstream_gene_variant MELA-AU 5 179241424 179241424 single base substitution C T intron_variant MELA-AU 5 179241424 179241424 single base substitution C T upstream_gene_variant MELA-AU 5 179242361 179242361 single base substitution G A downstream_gene_variant MELA-AU 5 179242361 179242361 single base substitution G A intron_variant MELA-AU 5 179242361 179242361 single base substitution G A upstream_gene_variant MELA-AU 5 179242455 179242455 single base substitution G A downstream_gene_variant MELA-AU 5 179242455 179242455 single base substitution G A intron_variant MELA-AU 5 179242455 179242455 single base substitution G A upstream_gene_variant MELA-AU 5 179243146 179243146 single base substitution C T downstream_gene_variant MELA-AU 5 179243146 179243146 single base substitution C T intron_variant MELA-AU 5 179243146 179243146 single base substitution C T upstream_gene_variant MELA-AU 5 179243343 179243343 single base substitution T C downstream_gene_variant MELA-AU 5 179243343 179243343 single base substitution T C intron_variant MELA-AU 5 179243343 179243343 single base substitution T C upstream_gene_variant MELA-AU 5 179243442 179243442 single base substitution G A downstream_gene_variant MELA-AU 5 179243442 179243442 single base substitution G A intron_variant MELA-AU 5 179243442 179243442 single base substitution G A upstream_gene_variant MELA-AU 5 179244237 179244237 single base substitution C T downstream_gene_variant MELA-AU 5 179244237 179244237 single base substitution C T intron_variant MELA-AU 5 179244237 179244237 single base substitution C T upstream_gene_variant MELA-AU 5 179244776 179244776 single base substitution G A downstream_gene_variant MELA-AU 5 179244776 179244776 single base substitution G A intron_variant MELA-AU 5 179244776 179244776 single base substitution G A upstream_gene_variant MELA-AU 5 179245243 179245243 single base substitution G T downstream_gene_variant MELA-AU 5 179245243 179245243 single base substitution G T intron_variant MELA-AU 5 179245243 179245243 single base substitution G T upstream_gene_variant MELA-AU 5 179246330 179246330 single base substitution C T intron_variant MELA-AU 5 179246330 179246330 single base substitution C T upstream_gene_variant MELA-AU 5 179246494 179246494 single base substitution C T intron_variant MELA-AU 5 179246494 179246494 single base substitution C T upstream_gene_variant MELA-AU 5 179247305 179247305 single base substitution G T exon_variant MELA-AU 5 179247305 179247305 single base substitution G T intron_variant MELA-AU 5 179247305 179247305 single base substitution G T upstream_gene_variant MELA-AU 5 179247924 179247924 single base substitution C T 5_prime_UTR_variant MELA-AU 5 179247924 179247924 single base substitution C T intron_variant MELA-AU 5 179247924 179247924 single base substitution C T upstream_gene_variant MELA-AU 5 179249235 179249235 single base substitution T C intron_variant MELA-AU 5 179249235 179249235 single base substitution T C upstream_gene_variant MELA-AU 5 179250220 179250220 single base substitution C T intron_variant MELA-AU 5 179250220 179250220 single base substitution C T upstream_gene_variant MELA-AU 5 179250520 179250520 single base substitution C T intron_variant MELA-AU 5 179250520 179250520 single base substitution C T upstream_gene_variant MELA-AU 5 179250847 179250847 single base substitution C T exon_variant MELA-AU 5 179250847 179250847 single base substitution C T intron_variant MELA-AU 5 179250847 179250847 single base substitution C T upstream_gene_variant MELA-AU 5 179250966 179250966 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179250966 179250966 single base substitution G A downstream_gene_variant MELA-AU 5 179250966 179250966 single base substitution G A exon_variant MELA-AU 5 179250966 179250966 single base substitution G A missense_variant G137E 410G>A MELA-AU 5 179250966 179250966 single base substitution G A missense_variant G160E 479G>A MELA-AU 5 179250966 179250966 single base substitution G A missense_variant G53E 158G>A MELA-AU 5 179251108 179251108 single base substitution G C downstream_gene_variant MELA-AU 5 179251108 179251108 single base substitution G C intron_variant MELA-AU 5 179251496 179251496 single base substitution C T downstream_gene_variant MELA-AU 5 179251496 179251496 single base substitution C T intron_variant MELA-AU 5 179252154 179252154 single base substitution C T downstream_gene_variant MELA-AU 5 179252154 179252154 single base substitution C T exon_variant MELA-AU 5 179252154 179252154 single base substitution C T missense_variant P144S 430C>T MELA-AU 5 179252154 179252154 single base substitution C T missense_variant P228S 682C>T MELA-AU 5 179252408 179252408 single base substitution A T downstream_gene_variant MELA-AU 5 179252408 179252408 single base substitution A T intron_variant MELA-AU 5 179252659 179252659 single base substitution C T downstream_gene_variant MELA-AU 5 179252659 179252659 single base substitution C T intron_variant MELA-AU 5 179253149 179253149 single base substitution C T downstream_gene_variant MELA-AU 5 179253149 179253149 single base substitution C T intron_variant MELA-AU 5 179253251 179253251 single base substitution C T downstream_gene_variant MELA-AU 5 179253251 179253251 single base substitution C T intron_variant MELA-AU 5 179253412 179253412 single base substitution C T downstream_gene_variant MELA-AU 5 179253412 179253412 single base substitution C T intron_variant MELA-AU 5 179253838 179253838 single base substitution C T downstream_gene_variant MELA-AU 5 179253838 179253838 single base substitution C T intron_variant MELA-AU 5 179253883 179253883 single base substitution G A downstream_gene_variant MELA-AU 5 179253883 179253883 single base substitution G A intron_variant MELA-AU 5 179254348 179254348 single base substitution C T downstream_gene_variant MELA-AU 5 179254348 179254348 single base substitution C T intron_variant MELA-AU 5 179254841 179254841 single base substitution C T downstream_gene_variant MELA-AU 5 179254841 179254841 single base substitution C T intron_variant MELA-AU 5 179255483 179255483 single base substitution C T downstream_gene_variant MELA-AU 5 179255483 179255483 single base substitution C T intron_variant MELA-AU 5 179256324 179256324 single base substitution C T downstream_gene_variant MELA-AU 5 179256324 179256324 single base substitution C T intron_variant MELA-AU 5 179256476 179256476 single base substitution G T downstream_gene_variant MELA-AU 5 179256476 179256476 single base substitution G T intron_variant MELA-AU 5 179257311 179257311 single base substitution A T intron_variant MELA-AU 5 179257342 179257342 single base substitution G A intron_variant MELA-AU 5 179257856 179257856 single base substitution C T intron_variant MELA-AU 5 179258150 179258150 single base substitution G A intron_variant MELA-AU 5 179258156 179258156 single base substitution C T intron_variant MELA-AU 5 179258270 179258270 single base substitution A C intron_variant MELA-AU 5 179258971 179258971 single base substitution G T intron_variant MELA-AU 5 179259722 179259722 single base substitution C T intron_variant MELA-AU 5 179260793 179260793 single base substitution C T downstream_gene_variant MELA-AU 5 179260793 179260793 single base substitution C T intron_variant MELA-AU 5 179260909 179260910 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 5 179260909 179260910 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 5 179262081 179262082 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 179262081 179262082 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179263688 179263688 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179263688 179263688 single base substitution C T downstream_gene_variant MELA-AU 5 179264612 179264613 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 5 179264612 179264613 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 179265342 179265342 single base substitution G A downstream_gene_variant MELA-AU 5 179265356 179265356 single base substitution C T downstream_gene_variant MELA-AU 5 179266963 179266963 deletion of <=200bp A - downstream_gene_variant MELA-AU 5 179267336 179267336 single base substitution G A downstream_gene_variant MELA-AU 5 179267889 179267889 single base substitution C T downstream_gene_variant MELA-AU 5 179268874 179268874 single base substitution G A downstream_gene_variant MELA-AU 5 179269792 179269792 single base substitution G A downstream_gene_variant MELA-AU 5 179270010 179270010 single base substitution G A downstream_gene_variant MELA-AU 5 179270046 179270046 insertion of <=200bp - AGGAAA downstream_gene_variant MELA-AU 5 179270049 179270049 single base substitution G A downstream_gene_variant ORCA-IN 5 179228969 179228969 single base substitution C A upstream_gene_variant ORCA-IN 5 179234931 179234931 single base substitution G A exon_variant ORCA-IN 5 179234931 179234931 single base substitution G A intron_variant ORCA-IN 5 179234931 179234931 single base substitution G A upstream_gene_variant ORCA-IN 5 179243032 179243032 single base substitution T A downstream_gene_variant ORCA-IN 5 179243032 179243032 single base substitution T A intron_variant ORCA-IN 5 179243032 179243032 single base substitution T A upstream_gene_variant ORCA-IN 5 179257607 179257607 single base substitution G A intron_variant OV-AU 5 179233984 179233984 single base substitution G T intron_variant OV-AU 5 179233984 179233984 single base substitution G T upstream_gene_variant OV-AU 5 179235394 179235394 single base substitution G C exon_variant OV-AU 5 179235394 179235394 single base substitution G C intron_variant OV-AU 5 179235394 179235394 single base substitution G C upstream_gene_variant OV-AU 5 179242015 179242015 single base substitution G A downstream_gene_variant OV-AU 5 179242015 179242015 single base substitution G A intron_variant OV-AU 5 179242015 179242015 single base substitution G A upstream_gene_variant OV-AU 5 179246856 179246856 single base substitution C T intron_variant OV-AU 5 179246856 179246856 single base substitution C T upstream_gene_variant OV-AU 5 179248772 179248772 single base substitution G C intron_variant OV-AU 5 179248772 179248772 single base substitution G C upstream_gene_variant OV-AU 5 179251597 179251597 single base substitution G A downstream_gene_variant OV-AU 5 179251597 179251597 single base substitution G A intron_variant OV-AU 5 179252611 179252611 single base substitution T A downstream_gene_variant OV-AU 5 179252611 179252611 single base substitution T A intron_variant OV-AU 5 179254531 179254531 single base substitution G T downstream_gene_variant OV-AU 5 179254531 179254531 single base substitution G T intron_variant OV-AU 5 179264130 179264130 single base substitution G A 3_prime_UTR_variant OV-AU 5 179264130 179264130 single base substitution G A downstream_gene_variant OV-AU 5 179264713 179264713 single base substitution C G 3_prime_UTR_variant OV-AU 5 179264713 179264713 single base substitution C G downstream_gene_variant PACA-AU 5 179230384 179230384 single base substitution A C upstream_gene_variant PACA-AU 5 179234631 179234631 single base substitution G T exon_variant PACA-AU 5 179234631 179234631 single base substitution G T intron_variant PACA-AU 5 179234631 179234631 single base substitution G T upstream_gene_variant PACA-AU 5 179237283 179237283 single base substitution G A intron_variant PACA-AU 5 179237283 179237283 single base substitution G A upstream_gene_variant PACA-AU 5 179245354 179245354 single base substitution A T downstream_gene_variant PACA-AU 5 179245354 179245354 single base substitution A T intron_variant PACA-AU 5 179245354 179245354 single base substitution A T upstream_gene_variant PACA-AU 5 179247963 179247963 single base substitution C T 5_prime_UTR_variant PACA-AU 5 179247963 179247963 single base substitution C T exon_variant PACA-AU 5 179247963 179247963 single base substitution C T intron_variant PACA-AU 5 179247963 179247963 single base substitution C T synonymous_variant Y9Y 27C>T PACA-AU 5 179247963 179247963 single base substitution C T upstream_gene_variant PACA-AU 5 179248514 179248514 single base substitution C G intron_variant PACA-AU 5 179248514 179248514 single base substitution C G upstream_gene_variant PACA-AU 5 179248571 179248571 single base substitution C T 3_prime_UTR_variant PACA-AU 5 179248571 179248571 single base substitution C T intron_variant PACA-AU 5 179248571 179248571 single base substitution C T upstream_gene_variant PACA-AU 5 179249728 179249728 insertion of <=200bp - C 5_prime_UTR_variant PACA-AU 5 179249728 179249728 insertion of <=200bp - C intron_variant PACA-AU 5 179249728 179249728 insertion of <=200bp - C upstream_gene_variant PACA-AU 5 179257135 179257135 single base substitution A C downstream_gene_variant PACA-AU 5 179257135 179257135 single base substitution A C intron_variant PACA-AU 5 179262761 179262761 single base substitution A C downstream_gene_variant PACA-AU 5 179262761 179262761 single base substitution A C intron_variant PACA-AU 5 179263768 179263768 insertion of <=200bp - TG 3_prime_UTR_variant PACA-AU 5 179263768 179263768 insertion of <=200bp - TG downstream_gene_variant PACA-AU 5 179264776 179264776 single base substitution C A 3_prime_UTR_variant PACA-AU 5 179264776 179264776 single base substitution C A downstream_gene_variant PACA-AU 5 179264911 179264911 single base substitution C G 3_prime_UTR_variant PACA-AU 5 179264911 179264911 single base substitution C G downstream_gene_variant PACA-AU 5 179267527 179267527 single base substitution C T downstream_gene_variant PACA-AU 5 179268802 179268802 single base substitution T C downstream_gene_variant PACA-AU 5 179269760 179269760 single base substitution C T downstream_gene_variant PACA-CA 5 179228738 179228738 single base substitution C A upstream_gene_variant PACA-CA 5 179234378 179234378 single base substitution C G exon_variant PACA-CA 5 179234378 179234378 single base substitution C G intron_variant PACA-CA 5 179234378 179234378 single base substitution C G upstream_gene_variant PACA-CA 5 179238058 179238058 single base substitution C T intron_variant PACA-CA 5 179238058 179238058 single base substitution C T upstream_gene_variant PACA-CA 5 179238950 179238950 single base substitution G A intron_variant PACA-CA 5 179241863 179241863 single base substitution C T downstream_gene_variant PACA-CA 5 179241863 179241863 single base substitution C T intron_variant PACA-CA 5 179241863 179241863 single base substitution C T upstream_gene_variant PACA-CA 5 179243295 179243295 single base substitution C A downstream_gene_variant PACA-CA 5 179243295 179243295 single base substitution C A intron_variant PACA-CA 5 179243295 179243295 single base substitution C A upstream_gene_variant PACA-CA 5 179243583 179243583 single base substitution C T downstream_gene_variant PACA-CA 5 179243583 179243583 single base substitution C T intron_variant PACA-CA 5 179243583 179243583 single base substitution C T upstream_gene_variant PACA-CA 5 179249966 179249966 single base substitution G A 3_prime_UTR_variant PACA-CA 5 179249966 179249966 single base substitution G A 5_prime_UTR_variant PACA-CA 5 179249966 179249966 single base substitution G A exon_variant PACA-CA 5 179249966 179249966 single base substitution G A intron_variant PACA-CA 5 179249966 179249966 single base substitution G A missense_variant G72R 214G>A PACA-CA 5 179249966 179249966 single base substitution G A missense_variant G95R 283G>A PACA-CA 5 179249966 179249966 single base substitution G A upstream_gene_variant PACA-CA 5 179254134 179254134 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 179254134 179254134 insertion of <=200bp - T intron_variant PACA-CA 5 179258455 179258455 single base substitution A T intron_variant PACA-CA 5 179260819 179260819 single base substitution T G downstream_gene_variant PACA-CA 5 179260819 179260819 single base substitution T G intron_variant PACA-CA 5 179263729 179263729 single base substitution T G 3_prime_UTR_variant PACA-CA 5 179263729 179263729 single base substitution T G downstream_gene_variant PACA-CA 5 179264731 179264731 single base substitution T C 3_prime_UTR_variant PACA-CA 5 179264731 179264731 single base substitution T C downstream_gene_variant PACA-CA 5 179265446 179265446 single base substitution C T downstream_gene_variant PACA-CA 5 179267401 179267401 single base substitution C A downstream_gene_variant PACA-CA 5 179267616 179267616 single base substitution A G downstream_gene_variant PACA-CA 5 179267827 179267827 single base substitution C T downstream_gene_variant PAEN-AU 5 179255941 179255941 single base substitution G A downstream_gene_variant PAEN-AU 5 179255941 179255941 single base substitution G A intron_variant PAEN-AU 5 179257504 179257504 single base substitution C T intron_variant PAEN-AU 5 179266969 179266969 single base substitution T A downstream_gene_variant PBCA-DE 5 179229465 179229465 deletion of <=200bp G - upstream_gene_variant PBCA-DE 5 179238377 179238377 insertion of <=200bp - T intron_variant PBCA-DE 5 179238377 179238377 insertion of <=200bp - T upstream_gene_variant PBCA-DE 5 179242512 179242512 single base substitution G A downstream_gene_variant PBCA-DE 5 179242512 179242512 single base substitution G A intron_variant PBCA-DE 5 179242512 179242512 single base substitution G A upstream_gene_variant PBCA-DE 5 179254519 179254519 single base substitution C T downstream_gene_variant PBCA-DE 5 179254519 179254519 single base substitution C T intron_variant PBCA-DE 5 179267088 179267088 single base substitution G C downstream_gene_variant PBCA-DE 5 179270063 179270063 single base substitution G A downstream_gene_variant PRAD-CA 5 179230852 179230852 single base substitution C T upstream_gene_variant PRAD-CA 5 179239996 179239996 single base substitution C A exon_variant PRAD-CA 5 179239996 179239996 single base substitution C A intron_variant PRAD-CA 5 179247933 179247933 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA 5 179247933 179247933 single base substitution C G intron_variant PRAD-CA 5 179247933 179247933 single base substitution C G upstream_gene_variant PRAD-CA 5 179250320 179250320 single base substitution G C intron_variant PRAD-CA 5 179250320 179250320 single base substitution G C upstream_gene_variant PRAD-CA 5 179255270 179255270 single base substitution C G downstream_gene_variant PRAD-CA 5 179255270 179255270 single base substitution C G intron_variant PRAD-CA 5 179264796 179264796 single base substitution C T 3_prime_UTR_variant PRAD-CA 5 179264796 179264796 single base substitution C T downstream_gene_variant PRAD-CA 5 179270059 179270059 single base substitution A G downstream_gene_variant PRAD-UK 5 179231266 179231272 deletion of <=200bp GTTAACG - upstream_gene_variant PRAD-UK 5 179247907 179247907 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 5 179247907 179247907 single base substitution G T intron_variant PRAD-UK 5 179247907 179247907 single base substitution G T upstream_gene_variant PRAD-UK 5 179258819 179258819 single base substitution C G intron_variant PRAD-UK 5 179267691 179267691 single base substitution A T downstream_gene_variant PRAD-US 5 179264557 179264557 single base substitution G A 3_prime_UTR_variant PRAD-US 5 179264557 179264557 single base substitution G A downstream_gene_variant PRAD-US 5 179264647 179264647 single base substitution G A 3_prime_UTR_variant PRAD-US 5 179264647 179264647 single base substitution G A downstream_gene_variant READ-US 5 179263547 179263547 single base substitution C T downstream_gene_variant READ-US 5 179263547 179263547 single base substitution C T missense_variant A342V 1025C>T READ-US 5 179263547 179263547 single base substitution C T missense_variant A426V 1277C>T READ-US 5 179263547 179263547 single base substitution C T missense_variant R343W 1027C>T READ-US 5 179264406 179264406 single base substitution G A 3_prime_UTR_variant READ-US 5 179264406 179264406 single base substitution G A downstream_gene_variant RECA-EU 5 179228943 179228943 single base substitution C G upstream_gene_variant RECA-EU 5 179252696 179252696 single base substitution C T downstream_gene_variant RECA-EU 5 179252696 179252696 single base substitution C T intron_variant RECA-EU 5 179257061 179257061 single base substitution A G downstream_gene_variant RECA-EU 5 179257061 179257061 single base substitution A G intron_variant RECA-EU 5 179260932 179260932 single base substitution C T downstream_gene_variant RECA-EU 5 179260932 179260932 single base substitution C T intron_variant RECA-EU 5 179262759 179262759 single base substitution T A downstream_gene_variant RECA-EU 5 179262759 179262759 single base substitution T A intron_variant RECA-EU 5 179267631 179267631 single base substitution A G downstream_gene_variant SKCA-BR 5 179230228 179230228 single base substitution A C upstream_gene_variant SKCA-BR 5 179230737 179230737 single base substitution C T upstream_gene_variant SKCA-BR 5 179230780 179230780 single base substitution C T upstream_gene_variant SKCA-BR 5 179233368 179233368 single base substitution C G upstream_gene_variant SKCA-BR 5 179233706 179233706 single base substitution A G intron_variant SKCA-BR 5 179233706 179233706 single base substitution A G upstream_gene_variant SKCA-BR 5 179234011 179234011 single base substitution A G intron_variant SKCA-BR 5 179234011 179234011 single base substitution A G upstream_gene_variant SKCA-BR 5 179234819 179234819 single base substitution A T exon_variant SKCA-BR 5 179234819 179234819 single base substitution A T intron_variant SKCA-BR 5 179234819 179234819 single base substitution A T upstream_gene_variant SKCA-BR 5 179236441 179236441 single base substitution A G intron_variant SKCA-BR 5 179236441 179236441 single base substitution A G upstream_gene_variant SKCA-BR 5 179236735 179236735 single base substitution C T intron_variant SKCA-BR 5 179236735 179236735 single base substitution C T upstream_gene_variant SKCA-BR 5 179239997 179239997 single base substitution C A exon_variant SKCA-BR 5 179239997 179239997 single base substitution C A intron_variant SKCA-BR 5 179241401 179241401 single base substitution C T downstream_gene_variant SKCA-BR 5 179241401 179241401 single base substitution C T intron_variant SKCA-BR 5 179241401 179241401 single base substitution C T upstream_gene_variant SKCA-BR 5 179246326 179246327 deletion of <=200bp GC - intron_variant SKCA-BR 5 179246326 179246327 deletion of <=200bp GC - upstream_gene_variant SKCA-BR 5 179247598 179247598 single base substitution A C intron_variant SKCA-BR 5 179247598 179247598 single base substitution A C upstream_gene_variant SKCA-BR 5 179247833 179247833 single base substitution G A 5_prime_UTR_variant SKCA-BR 5 179247833 179247833 single base substitution G A intron_variant SKCA-BR 5 179247833 179247833 single base substitution G A upstream_gene_variant SKCA-BR 5 179248860 179248860 single base substitution A G intron_variant SKCA-BR 5 179248860 179248860 single base substitution A G upstream_gene_variant SKCA-BR 5 179248946 179248947 deletion of <=200bp TA - intron_variant SKCA-BR 5 179248946 179248947 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 5 179250887 179250887 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 179250887 179250887 single base substitution C T exon_variant SKCA-BR 5 179250887 179250887 single base substitution C T missense_variant P111S 331C>T SKCA-BR 5 179250887 179250887 single base substitution C T missense_variant P134S 400C>T SKCA-BR 5 179250887 179250887 single base substitution C T missense_variant P27S 79C>T SKCA-BR 5 179251534 179251534 single base substitution C A downstream_gene_variant SKCA-BR 5 179251534 179251534 single base substitution C A intron_variant SKCA-BR 5 179251565 179251565 single base substitution C T downstream_gene_variant SKCA-BR 5 179251565 179251565 single base substitution C T intron_variant SKCA-BR 5 179253598 179253598 insertion of <=200bp - GTT downstream_gene_variant SKCA-BR 5 179253598 179253598 insertion of <=200bp - GTT intron_variant SKCA-BR 5 179254183 179254183 insertion of <=200bp - GGT downstream_gene_variant SKCA-BR 5 179254183 179254183 insertion of <=200bp - GGT intron_variant SKCA-BR 5 179258609 179258609 single base substitution C A intron_variant SKCA-BR 5 179261407 179261407 insertion of <=200bp - TTTTA downstream_gene_variant SKCA-BR 5 179261407 179261407 insertion of <=200bp - TTTTA intron_variant SKCA-BR 5 179261517 179261517 single base substitution A T downstream_gene_variant SKCA-BR 5 179261517 179261517 single base substitution A T intron_variant SKCA-BR 5 179261620 179261620 single base substitution G T downstream_gene_variant SKCA-BR 5 179261620 179261620 single base substitution G T intron_variant SKCA-BR 5 179262233 179262233 single base substitution T C downstream_gene_variant SKCA-BR 5 179262233 179262233 single base substitution T C intron_variant SKCA-BR 5 179262380 179262380 single base substitution C T downstream_gene_variant SKCA-BR 5 179262380 179262380 single base substitution C T intron_variant SKCA-BR 5 179264885 179264885 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 179264885 179264885 single base substitution C T downstream_gene_variant SKCA-BR 5 179266587 179266587 single base substitution G A downstream_gene_variant SKCA-BR 5 179270051 179270051 insertion of <=200bp - AAGGG downstream_gene_variant SKCA-BR 5 179270063 179270063 single base substitution G A downstream_gene_variant SKCM-US 5 179228606 179228606 single base substitution G A upstream_gene_variant SKCM-US 5 179250931 179250931 single base substitution T A 3_prime_UTR_variant SKCM-US 5 179250931 179250931 single base substitution T A exon_variant SKCM-US 5 179250931 179250931 single base substitution T A missense_variant N125K 375T>A SKCM-US 5 179250931 179250931 single base substitution T A missense_variant N148K 444T>A SKCM-US 5 179250931 179250931 single base substitution T A missense_variant N41K 123T>A SKCM-US 5 179251261 179251261 single base substitution G A downstream_gene_variant SKCM-US 5 179251261 179251261 single base substitution G A exon_variant SKCM-US 5 179251261 179251261 single base substitution G A missense_variant G120E 359G>A SKCM-US 5 179251261 179251261 single base substitution G A missense_variant G204E 611G>A SKCM-US 5 179252196 179252196 single base substitution G A downstream_gene_variant SKCM-US 5 179252196 179252196 single base substitution G A exon_variant SKCM-US 5 179252196 179252196 single base substitution G A missense_variant E158K 472G>A SKCM-US 5 179252196 179252196 single base substitution G A missense_variant E242K 724G>A SKCM-US 5 179260650 179260650 single base substitution G A downstream_gene_variant SKCM-US 5 179260650 179260650 single base substitution G A intron_variant SKCM-US 5 179260650 179260650 single base substitution G A missense_variant E261K 781G>A SKCM-US 5 179260650 179260650 single base substitution G A missense_variant E345K 1033G>A SKCM-US 5 179263543 179263543 single base substitution G A downstream_gene_variant SKCM-US 5 179263543 179263543 single base substitution G A missense_variant G341R 1021G>A SKCM-US 5 179263543 179263543 single base substitution G A missense_variant G425R 1273G>A SKCM-US 5 179263543 179263543 single base substitution G A synonymous_variant S341S 1023G>A SKCM-US 5 179268988 179268988 single base substitution G A downstream_gene_variant SKCM-US 5 179269064 179269064 single base substitution C T downstream_gene_variant STAD-US 5 179250014 179250014 single base substitution T C 3_prime_UTR_variant STAD-US 5 179250014 179250014 single base substitution T C exon_variant STAD-US 5 179250014 179250014 single base substitution T C intron_variant STAD-US 5 179250014 179250014 single base substitution T C missense_variant S111P 331T>C STAD-US 5 179250014 179250014 single base substitution T C missense_variant S4P 10T>C STAD-US 5 179250014 179250014 single base substitution T C missense_variant S88P 262T>C STAD-US 5 179250014 179250014 single base substitution T C upstream_gene_variant STAD-US 5 179250039 179250039 single base substitution G A 3_prime_UTR_variant STAD-US 5 179250039 179250039 single base substitution G A exon_variant STAD-US 5 179250039 179250039 single base substitution G A missense_variant R119Q 356G>A STAD-US 5 179250039 179250039 single base substitution G A missense_variant R12Q 35G>A STAD-US 5 179250039 179250039 single base substitution G A missense_variant R96Q 287G>A STAD-US 5 179250039 179250039 single base substitution G A upstream_gene_variant STAD-US 5 179250884 179250884 single base substitution C T 3_prime_UTR_variant STAD-US 5 179250884 179250884 single base substitution C T exon_variant STAD-US 5 179250884 179250884 single base substitution C T missense_variant R110C 328C>T STAD-US 5 179250884 179250884 single base substitution C T missense_variant R133C 397C>T STAD-US 5 179250884 179250884 single base substitution C T missense_variant R26C 76C>T STAD-US 5 179250925 179250925 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 5 179250925 179250925 deletion of <=200bp C - exon_variant STAD-US 5 179250925 179250925 deletion of <=200bp C - frameshift_variant H123 STAD-US 5 179250925 179250925 deletion of <=200bp C - frameshift_variant H146 STAD-US 5 179250925 179250925 deletion of <=200bp C - frameshift_variant H39 STAD-US 5 179251252 179251252 single base substitution G A downstream_gene_variant STAD-US 5 179251252 179251252 single base substitution G A exon_variant STAD-US 5 179251252 179251252 single base substitution G A missense_variant G117D 350G>A STAD-US 5 179251252 179251252 single base substitution G A missense_variant G201D 602G>A STAD-US 5 179260040 179260040 single base substitution G A exon_variant STAD-US 5 179260040 179260040 single base substitution G A missense_variant V171I 511G>A STAD-US 5 179260040 179260040 single base substitution G A missense_variant V255I 763G>A STAD-US 5 179260239 179260239 single base substitution G A exon_variant STAD-US 5 179260239 179260239 single base substitution G A intron_variant STAD-US 5 179260239 179260239 single base substitution G A missense_variant R237H 710G>A STAD-US 5 179260239 179260239 single base substitution G A missense_variant R321H 962G>A STAD-US 5 179263532 179263532 single base substitution A G downstream_gene_variant STAD-US 5 179263532 179263532 single base substitution A G missense_variant N337S 1010A>G STAD-US 5 179263532 179263532 single base substitution A G missense_variant N421S 1262A>G STAD-US 5 179263532 179263532 single base substitution A G missense_variant T338A 1012A>G STAD-US 5 179263587 179263587 single base substitution G A downstream_gene_variant STAD-US 5 179263587 179263587 single base substitution G A missense_variant R356H 1067G>A STAD-US 5 179263587 179263587 single base substitution G A synonymous_variant P355P 1065G>A STAD-US 5 179263587 179263587 single base substitution G A synonymous_variant P439P 1317G>A STAD-US 5 179264410 179264410 single base substitution T C 3_prime_UTR_variant STAD-US 5 179264410 179264410 single base substitution T C downstream_gene_variant STAD-US 5 179264517 179264517 single base substitution C A 3_prime_UTR_variant STAD-US 5 179264517 179264517 single base substitution C A downstream_gene_variant THCA-SA 5 179260601 179260601 single base substitution G A downstream_gene_variant THCA-SA 5 179260601 179260601 single base substitution G A intron_variant THCA-SA 5 179260601 179260601 single base substitution G A synonymous_variant S244S 732G>A THCA-SA 5 179260601 179260601 single base substitution G A synonymous_variant S328S 984G>A UCEC-US 5 179228441 179228441 single base substitution C T upstream_gene_variant UCEC-US 5 179228876 179228876 single base substitution A G upstream_gene_variant UCEC-US 5 179250038 179250038 single base substitution C T 3_prime_UTR_variant UCEC-US 5 179250038 179250038 single base substitution C T exon_variant UCEC-US 5 179250038 179250038 single base substitution C T stop_gained R119* 355C>T UCEC-US 5 179250038 179250038 single base substitution C T stop_gained R12* 34C>T UCEC-US 5 179250038 179250038 single base substitution C T stop_gained R96* 286C>T UCEC-US 5 179250038 179250038 single base substitution C T upstream_gene_variant UCEC-US 5 179250960 179250960 single base substitution T C 3_prime_UTR_variant UCEC-US 5 179250960 179250960 single base substitution T C downstream_gene_variant UCEC-US 5 179250960 179250960 single base substitution T C exon_variant UCEC-US 5 179250960 179250960 single base substitution T C missense_variant V135A 404T>C UCEC-US 5 179250960 179250960 single base substitution T C missense_variant V158A 473T>C UCEC-US 5 179250960 179250960 single base substitution T C missense_variant V51A 152T>C UCEC-US 5 179250982 179250982 single base substitution C T 3_prime_UTR_variant UCEC-US 5 179250982 179250982 single base substitution C T downstream_gene_variant UCEC-US 5 179250982 179250982 single base substitution C T exon_variant UCEC-US 5 179250982 179250982 single base substitution C T synonymous_variant C142C 426C>T UCEC-US 5 179250982 179250982 single base substitution C T synonymous_variant C165C 495C>T UCEC-US 5 179250982 179250982 single base substitution C T synonymous_variant C58C 174C>T UCEC-US 5 179251276 179251276 single base substitution G A downstream_gene_variant UCEC-US 5 179251276 179251276 single base substitution G A exon_variant UCEC-US 5 179251276 179251276 single base substitution G A missense_variant R125H 374G>A UCEC-US 5 179251276 179251276 single base substitution G A missense_variant R209H 626G>A UCEC-US 5 179263654 179263654 single base substitution G A 3_prime_UTR_variant UCEC-US 5 179263654 179263654 single base substitution G A downstream_gene_variant UCEC-US 5 179263654 179263654 single base substitution G A synonymous_variant A378A 1134G>A UCEC-US 5 179264449 179264449 single base substitution C T 3_prime_UTR_variant UCEC-US 5 179264449 179264449 single base substitution C T downstream_gene_variant UCEC-US 5 179269057 179269057 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A6-6781-01 COSM294061 c.481C>T p.R161W Substitution - Missense 5:179824037-179824037 + C608 COSM4443021 c.418T>C p.Y140H Substitution - Missense 5:179823974-179823974 + sysucc-1317T COSM5450124 c.907G>A p.A303T Substitution - Missense 5:179833184-179833184 + TCGA-D3-A2JL-06 COSM3614781 c.1033G>A p.E345K Substitution - Missense 5:179833650-179833650 + 31107 COSM5043973 c.973C>G p.Q325E Substitution - Missense 5:179833590-179833590 + ESCC_BICR_070T COSM5445065 c.486G>A p.G162G Substitution - coding silent 5:179824042-179824042 + PD22363a COSM5768035 c.1290C>T p.T430T Substitution - coding silent 5:179836560-179836560 + TCGA-HU-A4GT-01 COSM3854249 c.962G>A p.R321H Substitution - Missense 5:179833239-179833239 + PT46 COSM5928757 c.532-6C>T p.? Unknown 5:179824176-179824176 + TCGA-FT-A3EE-01 COSM3776578 c.1317G>A p.P439P Substitution - coding silent 5:179836587-179836587 + PDA_089 COSM5002993 c.116_117insG p.P41fs*30 Insertion - Frameshift 5:179821052-179821053 + RK128_C01 COSM3744809 c.922G>C p.A308P Substitution - Missense 5:179833199-179833199 + SH-5693 COSM5020434 c.955G>A p.E319K Substitution - Missense 5:179833232-179833232 + SH-1362 COSM5019351 c.954C>T p.S318S Substitution - coding silent 5:179833231-179833231 + TCGA-AP-A059-01 COSM1066712 c.426C>T p.C142C Substitution - coding silent 5:179823982-179823982 + 12-P8001 COSM4585771 c.662C>T p.T221M Substitution - Missense 5:179824312-179824312 + YUPROST COSM1696827 c.298A>G p.K100E Substitution - Missense 5:179823050-179823050 + YURDE COSM1696829 c.1273G>A p.G425R Substitution - Missense 5:179836543-179836543 + C80 COSM4619852 c.98C>T p.A33V Substitution - Missense 5:179821034-179821034 + TCGA-D9-A6EC-06 COSM4402872 c.724G>A p.E242K Substitution - Missense 5:179825196-179825196 + TCGA-FU-A5XV-01 COSM4844249 c.1099C>G p.L367V Substitution - Missense 5:179833716-179833716 + PDA_035 COSM4999873 c.416G>A p.R139H Substitution - Missense 5:179823972-179823972 + CHC1055T COSM217359 c.970-1G>A p.? Unknown 5:179833586-179833586 + 8013946 COSM3784847 c.27C>T p.Y9Y Substitution - coding silent 5:179820963-179820963 + DLD1 COSM4625533 c.24C>A p.A8A Substitution - coding silent 5:179820960-179820960 + CSCC-19-T COSM4520805 c.1078G>A p.E360K Substitution - Missense 5:179833695-179833695 + RMS80_ COSM4988730 c.1175C>T p.P392L Substitution - Missense 5:179836445-179836445 + HCC97T COSM1620158 c.15C>T p.T5T Substitution - coding silent 5:179820951-179820951 + TCGA-AN-A046-01 COSM3827842 c.1260G>T p.K420N Substitution - Missense 5:179836530-179836530 + 587300 COSM1227522 c.1A>G p.M1V Substitution - Missense 5:179820937-179820937 + TCGA-B1-A656-01 COSM4414008 c.427A>T p.S143C Substitution - Missense 5:179823983-179823983 + TCGA-30-1853-01 COSM80581 c.450G>A p.L150L Substitution - coding silent 5:179824006-179824006 + TCGA-D1-A101-01 COSM1066714 c.1272C>T p.I424I Substitution - coding silent 5:179836542-179836542 + TCGA-BR-4366-01 COSM3776578 c.1317G>A p.P439P Substitution - coding silent 5:179836587-179836587 + SH-102782 COSM5021030 c.1176G>A p.P392P Substitution - coding silent 5:179836446-179836446 + HX17T COSM1620159 c.614A>G p.N205S Substitution - Missense 5:179824264-179824264 + 2249676 COSM4413332 c.712A>G p.K238E Substitution - Missense 5:179825184-179825184 + PTC-7C COSM4159814 c.876C>T p.D292D Substitution - coding silent 5:179833153-179833153 + YUWAND COSM1696828 c.581G>A p.G194E Substitution - Missense 5:179824231-179824231 + BON-1 COSM5368078 c.288A>G p.R96R Substitution - coding silent 5:179823040-179823040 + TCGA-AX-A0J1-01 COSM1066713 c.626G>A p.R209H Substitution - Missense 5:179824276-179824276 + EGC15 COSM5060996 c.912G>A p.T304T Substitution - coding silent 5:179833189-179833189 + TCGA-EJ-7125-01 COSM3674413 c.286C>A p.R96R Substitution - coding silent 5:179823038-179823038 + HCC97 COSM1620158 c.15C>T p.T5T Substitution - coding silent 5:179820951-179820951 + TCGA-AF-2687-01 COSM1567750 c.1277C>T p.A426V Substitution - Missense 5:179836547-179836547 + TCGA-D3-A2JF-06 COSM3614779 c.375T>A p.N125K Substitution - Missense 5:179823931-179823931 + TCGA-BH-A0HA-01 COSM449456 c.1043C>T p.P348L Substitution - Missense 5:179833660-179833660 + TCGA-AO-A128-01 COSM3827841 c.1230C>T p.G410G Substitution - coding silent 5:179836500-179836500 + TCGA-DA-A3F5-06 COSM1696829 c.1273G>A p.G425R Substitution - Missense 5:179836543-179836543 + BCB111T COSM4790494 c.413C>T p.T138I Substitution - Missense 5:179823969-179823969 + MO_1012 COSM5060996 c.912G>A p.T304T Substitution - coding silent 5:179833189-179833189 + TCGA-GC-A3RD-01 COSM3776577 c.1282C>T p.L428L Substitution - coding silent 5:179836552-179836552 + BCB111T COSM4790494 c.413C>T p.T138I Substitution - Missense 5:179823969-179823969 + TCGA-BR-6452-01 COSM3854247 c.602G>A p.G201D Substitution - Missense 5:179824252-179824252 + I2L-P19Tb-Tumor-Biopsy COSM5079432 c.320G>A p.R107Q Substitution - Missense 5:179823876-179823876 + LUAD-NYU796 COSM376350 c.334C>T p.P112S Substitution - Missense 5:179823890-179823890 + I2L-P19Tb-Tumor-Organoid COSM5079432 c.320G>A p.R107Q Substitution - Missense 5:179823876-179823876 + TCGA-DK-A1AC-01 COSM1311041 c.454A>T p.S152C Substitution - Missense 5:179824010-179824010 + TCGA-AP-A0LM-01 COSM1066710 c.286C>T p.R96* Substitution - Nonsense 5:179823038-179823038 + TCGA-BR-7851-01 COSM3854245 c.287G>A p.R96Q Substitution - Missense 5:179823039-179823039 + TCGA-DU-7010-01 COSM3975453 c.5C>T p.A2V Substitution - Missense 5:179820941-179820941 + SH-1362 COSM5019342 c.822G>C p.E274D Substitution - Missense 5:179833099-179833099 + TCGA-CD-A4MG-01 COSM3854248 c.763G>A p.V255I Substitution - Missense 5:179833040-179833040 + TCGA-B6-A0IJ-01 COSM449455 c.494A>G p.K165R Substitution - Missense 5:179824050-179824050 + TCGA-AA-3819-01 COSM294061 c.481C>T p.R161W Substitution - Missense 5:179824037-179824037 + YUKAT COSM5403211 c.473G>A p.G158D Substitution - Missense 5:179824029-179824029 + CHC1055T COSM217359 c.970-1G>A p.? Unknown 5:179833586-179833586 + TCGA-22-5477-01 COSM737500 c.233C>T p.S78F Substitution - Missense 5:179822985-179822985 + ESO-085 COSM1266780 c.1138G>A p.A380T Substitution - Missense 5:179833755-179833755 + TCGA-BR-4184-01 COSM3854244 c.262T>C p.S88P Substitution - Missense 5:179823014-179823014 + TCGA-HU-A4GQ-01 COSM3854246 c.328C>T p.R110C Substitution - Missense 5:179823884-179823884 + sysucc-882T COSM5447643 c.362T>C p.M121T Substitution - Missense 5:179823918-179823918 + HCA7 COSM4631022 c.356G>A p.R119H Substitution - Missense 5:179823912-179823912 + TCGA-EE-A29E-06 COSM3614780 c.611G>A p.G204E Substitution - Missense 5:179824261-179824261 + TCGA-HJ-7597-01 COSM3854250 c.1262A>G p.N421S Substitution - Missense 5:179836532-179836532 + PD4595a COSM164591 c.277G>T p.D93Y Substitution - Missense 5:179823029-179823029 + TCGA-A2-A3Y0-01 COSM3827840 c.969+2C>G p.? Unknown 5:179833248-179833248 + 19 COSM5746513 c.100G>A p.E34K Substitution - Missense 5:179821036-179821036 + TCGA-AP-A051-01 COSM1066711 c.404T>C p.V135A Substitution - Missense 5:179823960-179823960 + CHC1055T COSM217359 c.970-1G>A p.? Unknown 5:179833586-179833586 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.724025 5q35 601530 2412062|CGAP|BC001874|C/T|non-coding||2122|Candidate; 2412062|CGAP|BC003139|C/T|non-coding||1883|Candidate; 2412062|CGAP|BC017222|C/T|non-coding||1905|Candidate; 2412062|CGAP|BC019111|C/T|non-coding||1895|Candidate; 2412074|CGAP|BC001874|C/T|non-coding||2214|Candidate; 2412074|CGAP|BC003139|C/T|non-coding||1975|Candidate; 2412074|CGAP|BC017222|C/T|non-coding||1997|Candidate; 2412074|CGAP|BC019111|C/T|non-coding||1987|Candidate; 2412079|CGAP|BC017222|C/G|non-coding||2785|Candidate; 2412085|CGAP|BC001874|C/T|non-coding||2117|Candidate; 2412085|CGAP|BC003139|C/T|non-coding||1878|Candidate; 2412085|CGAP|BC017222|C/T|non-coding||1900|Candidate; 2412085|CGAP|BC019111|C/T|non-coding||1890|Candidate; 2412090|CGAP|BC017222|C/T|non-coding||2502|Validated; 2412108|CGAP|BC001874|G/T|non-coding||2120|Confirmed; 2412108|CGAP|BC003139|G/T|non-coding||1881|Confirmed; 2412108|CGAP|BC017222|G/T|non-coding||1903|Confirmed; 2412108|CGAP|BC019111|G/T|non-coding||1893|Confirmed; 2412141|CGAP|BC001874|C/T|coding|Asp208Asp|1134|Validated; 2412141|CGAP|BC003139|C/T|coding|Asp292Asp|893|Validated; 2412141|CGAP|BC017222|C/T|coding|Asp292Asp|915|Validated; 2412141|CGAP|BC019111|C/T|coding|Asp292Asp|907|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.969+131A>C 5 179260377 HC A G Missense p.K165R c.494A>G 5 179251050 BRCA A G Missense p.S277G c.829A>G 5 179260106 LUAD C A 3-UTRSNV . c.1320+102C>A 5 179263692 CM C A Synonymous p.T5T c.15C>A 5 179247951 LUAD C - Frameshift p.N125Mfs*2 c.372delC 5 179250925 STAD C T 3-UTRSNV . c.1320+38C>T 5 179263628 CM C T IntronicSNV . c.206-36C>T 5 179249922 CM C T Missense p.A426V c.1277C>T 5 179263547 BRCA C T Missense p.R161W c.481C>T 5 179251037 COREAD C T Missense p.S78F c.233C>T 5 179249985 LUSC C T Nonsense p.R96* c.286C>T 5 179250038 LUAD GAG - InFrameDeletion p.E280delE c.838_840delGAG 5 179260112 GBM G A Missense p.A380T c.1138G>A 5 179260755 ESCA G A Missense p.E345K c.1033G>A 5 179260650 CM G A Missense p.G425R c.1273G>A 5 179263543 CM G A Missense p.R119H c.356G>A 5 179250912 STAD G A Synonymous p.G263G c.789G>A 5 179260066 HNSC G A Synonymous p.L150L c.450G>A 5 179251006 OV G A Synonymous p.P439P c.1317G>A 5 179263587 STAD G A Synonymous p.Q400Q c.1200G>A 5 179263470 CM GGACCACC - Frameshift p.D108Pfs*42 c.322_329delGACCACCG 5 179250877 BRCA G T Missense p.A76S c.226G>T 5 179249978 LUAD G T Missense p.D93Y c.277G>T 5 179250029 BRCA G T Missense p.R110L c.329G>T 5 179250885 LUAD T A Missense p.N125K c.375T>A 5 179250931 CM - TG 3-UTRInsertion . c.1320+178_1320+179insTG 5 179263768 CM