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 175913420 175913420 + Missense_Mutation SNP C C T TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr5:175913420C>T c.197C>T c.(196-198)tCa>tTa p.S66L BLCA 5 175916018 175916018 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:175916018G>A c.334G>A c.(334-336)Gat>Aat p.D112N BLCA 5 175921066 175921066 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr5:175921066G>T c.550G>T c.(550-552)Gac>Tac p.D184Y BLCA 5 175925944 175925944 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr5:175925944G>A c.869G>A c.(868-870)aGa>aAa p.R290K BRCA 5 175875421 175875421 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr5:175875421G>C c.13G>C c.(13-15)Gag>Cag p.E5Q BRCA 5 175875463 175875463 + Missense_Mutation SNP C C A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 g.chr5:175875463C>A c.55C>A c.(55-57)Cag>Aag p.Q19K BRCA 5 175875473 175875473 + Splice_Site SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 g.chr5:175875473T>G c.e1+2 BRCA 5 175916028 175916028 + Splice_Site SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr5:175916028G>T c.344G>T c.(343-345)aGg>aTg p.R115M CESC 5 175906255 175906255 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr5:175906255G>C c.130G>C c.(130-132)Gag>Cag p.E44Q COAD 5 175906204 175906204 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:175906204G>A c.79G>A c.(79-81)Gaa>Aaa p.E27K COAD 5 175913451 175913451 + Silent SNP C C T TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr5:175913451C>T c.228C>T c.(226-228)caC>caT p.H76H COAD 5 175921028 175921028 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:175921028G>A c.512G>A c.(511-513)cGc>cAc p.R171H COAD 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G COAD 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G COAD 5 175926049 175926049 + Missense_Mutation SNP T T A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:175926049T>A c.974T>A c.(973-975)gTg>gAg p.V325E COAD 5 175927074 175927074 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr5:175927074G>A c.1082G>A c.(1081-1083)aGt>aAt p.S361N COAD 5 175933767 175933767 + Splice_Site SNP A A T TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr5:175933767A>T c.e11-1 COADREAD 5 175906204 175906204 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:175906204G>A c.79G>A c.(79-81)Gaa>Aaa p.E27K COADREAD 5 175913451 175913451 + Silent SNP C C T TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr5:175913451C>T c.228C>T c.(226-228)caC>caT p.H76H COADREAD 5 175921028 175921028 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:175921028G>A c.512G>A c.(511-513)cGc>cAc p.R171H COADREAD 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G COADREAD 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G COADREAD 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G COADREAD 5 175926049 175926049 + Missense_Mutation SNP T T A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:175926049T>A c.974T>A c.(973-975)gTg>gAg p.V325E COADREAD 5 175927074 175927074 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr5:175927074G>A c.1082G>A c.(1081-1083)aGt>aAt p.S361N COADREAD 5 175933767 175933767 + Splice_Site SNP A A T TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr5:175933767A>T c.e11-1 DLBC 5 175913491 175913491 + Splice_Site SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr5:175913491G>A c.e3+1 DLBC 5 175919324 175919324 + Silent SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr5:175919324G>A c.474G>A c.(472-474)acG>acA p.T158T DLBC 5 175926010 175926010 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:175926010G>A c.935G>A c.(934-936)cGg>cAg p.R312Q ESCA 5 175906212 175906212 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr5:175906212G>T c.87G>T c.(85-87)atG>atT p.M29I GBMLGG 5 175913383 175913384 + Frame_Shift_Ins INS - - A TCGA-FG-A4MY-01A-11D-A26M-08 TCGA-FG-A4MY-10A-01D-A26K-08 g.chr5:175913383_175913384insA c.160_161insA c.(160-162)caafs p.Q54fs GBMLGG 5 175913417 175913417 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:175913417C>A c.194C>A c.(193-195)cCa>cAa p.P65Q HNSC 5 175913467 175913467 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 g.chr5:175913467G>A c.244G>A c.(244-246)Gtt>Att p.V82I HNSC 5 175913486 175913486 + Missense_Mutation SNP C C T TCGA-CV-7432-01A-11D-2129-08 TCGA-CV-7432-10A-01D-2129-08 g.chr5:175913486C>T c.263C>T c.(262-264)cCa>cTa p.P88L HNSC 5 175933836 175933836 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr5:175933836C>T c.1223C>T c.(1222-1224)cCc>cTc p.P408L LGG 5 175913383 175913384 + Frame_Shift_Ins INS - - A TCGA-FG-A4MY-01A-11D-A26M-08 TCGA-FG-A4MY-10A-01D-A26K-08 g.chr5:175913383_175913384insA c.160_161insA c.(160-162)caafs p.Q54fs LGG 5 175913417 175913417 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:175913417C>A c.194C>A c.(193-195)cCa>cAa p.P65Q LIHC 5 175923517 175923517 + Missense_Mutation SNP C C A TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr5:175923517C>A c.692C>A c.(691-693)cCa>cAa p.P231Q LUAD 5 175913446 175913446 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr5:175913446G>C c.223G>C c.(223-225)Gac>Cac p.D75H LUAD 5 175919294 175919294 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr5:175919294G>A c.444G>A c.(442-444)ggG>ggA p.G148G LUAD 5 175923528 175923528 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 g.chr5:175923528A>G c.703A>G c.(703-705)Atg>Gtg p.M235V LUAD 5 175923620 175923620 + Silent SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:175923620C>A c.795C>A c.(793-795)atC>atA p.I265I LUAD 5 175927109 175927109 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr5:175927109C>T c.1117C>T c.(1117-1119)Cga>Tga p.R373* LUAD 5 175927110 175927110 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 g.chr5:175927110G>T c.1118G>T c.(1117-1119)cGa>cTa p.R373L LUSC 5 175933902 175933902 + Missense_Mutation SNP G G C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr5:175933902G>C c.1289G>C c.(1288-1290)gGa>gCa p.G430A OV 5 175921229 175921229 + Missense_Mutation SNP G G A TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 g.chr5:175921229G>A c.614G>A c.(613-615)aGg>aAg p.R205K PAAD 5 175913437 175913437 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:175913437A>G c.214A>G c.(214-216)Aat>Gat p.N72D PAAD 5 175921013 175921013 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:175921013C>A c.497C>A c.(496-498)gCc>gAc p.A166D PRAD 5 175933901 175933901 + Nonsense_Mutation SNP G G T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 g.chr5:175933901G>T c.1288G>T c.(1288-1290)Gga>Tga p.G430* READ 5 175921228 175921228 + Missense_Mutation SNP A A G TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr5:175921228A>G c.613A>G c.(613-615)Agg>Ggg p.R205G SARC 5 175919335 175919335 + Splice_Site SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 g.chr5:175919335T>A c.e5+2 SKCM 5 175919263 175919263 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr5:175919263C>T c.413C>T c.(412-414)tCa>tTa p.S138L SKCM 5 175921194 175921194 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:175921194C>T c.579C>T c.(577-579)ctC>ctT p.L193L SKCM 5 175921237 175921237 + Missense_Mutation SNP T T A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:175921237T>A c.622T>A c.(622-624)Ttc>Atc p.F208I SKCM 5 175923636 175923636 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:175923636A>G c.811A>G c.(811-813)Act>Gct p.T271A SKCM 5 175927043 175927043 + Missense_Mutation SNP C C T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 g.chr5:175927043C>T c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S SKCM 5 175927084 175927084 + Missense_Mutation SNP C C G TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 g.chr5:175927084C>G c.1092C>G c.(1090-1092)atC>atG p.I364M

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 5 175921066 175921066 single base substitution G T exon_variant BLCA-US 5 175921066 175921066 single base substitution G T missense_variant D184Y 550G>T BRCA-EU 5 175871362 175871362 single base substitution C G upstream_gene_variant BRCA-EU 5 175871495 175871495 single base substitution T C upstream_gene_variant BRCA-EU 5 175871870 175871870 single base substitution T C upstream_gene_variant BRCA-EU 5 175874768 175874768 single base substitution G A 5_prime_UTR_variant BRCA-EU 5 175874768 175874768 single base substitution G A upstream_gene_variant BRCA-EU 5 175874886 175874886 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 175874886 175874886 single base substitution C T upstream_gene_variant BRCA-EU 5 175875270 175875270 single base substitution G A intron_variant BRCA-EU 5 175875270 175875270 single base substitution G A upstream_gene_variant BRCA-EU 5 175876033 175876033 single base substitution G C intron_variant BRCA-EU 5 175876033 175876033 single base substitution G C upstream_gene_variant BRCA-EU 5 175876560 175876560 single base substitution G C intron_variant BRCA-EU 5 175876560 175876560 single base substitution G C upstream_gene_variant BRCA-EU 5 175877305 175877305 single base substitution G A intron_variant BRCA-EU 5 175877305 175877305 single base substitution G A upstream_gene_variant BRCA-EU 5 175878235 175878235 single base substitution G A intron_variant BRCA-EU 5 175878235 175878235 single base substitution G A upstream_gene_variant BRCA-EU 5 175879092 175879092 single base substitution T G intron_variant BRCA-EU 5 175879092 175879092 single base substitution T G upstream_gene_variant BRCA-EU 5 175879994 175879994 single base substitution C T intron_variant BRCA-EU 5 175879994 175879994 single base substitution C T upstream_gene_variant BRCA-EU 5 175880329 175880329 single base substitution G C exon_variant BRCA-EU 5 175880329 175880329 single base substitution G C intron_variant BRCA-EU 5 175880901 175880901 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 175880901 175880901 insertion of <=200bp - A intron_variant BRCA-EU 5 175882375 175882375 single base substitution A C downstream_gene_variant BRCA-EU 5 175882375 175882375 single base substitution A C intron_variant BRCA-EU 5 175883090 175883090 single base substitution G C downstream_gene_variant BRCA-EU 5 175883090 175883090 single base substitution G C intron_variant BRCA-EU 5 175883637 175883637 single base substitution G C downstream_gene_variant BRCA-EU 5 175883637 175883637 single base substitution G C intron_variant BRCA-EU 5 175884181 175884181 single base substitution G C downstream_gene_variant BRCA-EU 5 175884181 175884181 single base substitution G C intron_variant BRCA-EU 5 175884388 175884388 single base substitution C T downstream_gene_variant BRCA-EU 5 175884388 175884388 single base substitution C T intron_variant BRCA-EU 5 175884577 175884577 single base substitution A G downstream_gene_variant BRCA-EU 5 175884577 175884577 single base substitution A G intron_variant BRCA-EU 5 175886658 175886658 single base substitution C A intron_variant BRCA-EU 5 175887107 175887107 single base substitution A G intron_variant BRCA-EU 5 175887137 175887137 single base substitution A C intron_variant BRCA-EU 5 175888368 175888368 single base substitution A G intron_variant BRCA-EU 5 175895067 175895067 single base substitution G C intron_variant BRCA-EU 5 175895950 175895950 single base substitution T C intron_variant BRCA-EU 5 175896892 175896892 single base substitution G A intron_variant BRCA-EU 5 175900115 175900115 single base substitution T C intron_variant BRCA-EU 5 175900473 175900473 single base substitution G A intron_variant BRCA-EU 5 175900956 175900956 single base substitution G A intron_variant BRCA-EU 5 175902426 175902426 single base substitution C T intron_variant BRCA-EU 5 175903918 175903918 single base substitution C T intron_variant BRCA-EU 5 175904344 175904344 single base substitution T C intron_variant BRCA-EU 5 175906376 175906376 deletion of <=200bp A - intron_variant BRCA-EU 5 175906463 175906463 single base substitution C A intron_variant BRCA-EU 5 175906975 175906975 single base substitution C T intron_variant BRCA-EU 5 175908455 175908455 single base substitution G A intron_variant BRCA-EU 5 175908936 175908936 single base substitution G C intron_variant BRCA-EU 5 175911913 175911913 single base substitution T C intron_variant BRCA-EU 5 175912823 175912823 single base substitution C T intron_variant BRCA-EU 5 175913572 175913572 single base substitution G C downstream_gene_variant BRCA-EU 5 175913572 175913572 single base substitution G C intron_variant BRCA-EU 5 175914450 175914450 single base substitution C T downstream_gene_variant BRCA-EU 5 175914450 175914450 single base substitution C T intron_variant BRCA-EU 5 175914450 175914450 single base substitution C T upstream_gene_variant BRCA-EU 5 175915753 175915753 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 175915753 175915753 insertion of <=200bp - A intron_variant BRCA-EU 5 175915753 175915753 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 175917222 175917222 single base substitution G C downstream_gene_variant BRCA-EU 5 175917222 175917222 single base substitution G C intron_variant BRCA-EU 5 175917222 175917222 single base substitution G C upstream_gene_variant BRCA-EU 5 175919064 175919064 single base substitution C A downstream_gene_variant BRCA-EU 5 175919064 175919064 single base substitution C A intron_variant BRCA-EU 5 175919064 175919064 single base substitution C A upstream_gene_variant BRCA-EU 5 175921643 175921643 single base substitution C A intron_variant BRCA-EU 5 175922916 175922916 deletion of <=200bp A - intron_variant BRCA-EU 5 175923705 175923705 single base substitution G T exon_variant BRCA-EU 5 175923705 175923705 single base substitution G T intron_variant BRCA-EU 5 175924988 175924988 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 175924988 175924988 deletion of <=200bp A - intron_variant BRCA-EU 5 175925133 175925133 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 175925133 175925133 deletion of <=200bp A - intron_variant BRCA-EU 5 175925652 175925652 single base substitution G C downstream_gene_variant BRCA-EU 5 175925652 175925652 single base substitution G C intron_variant BRCA-EU 5 175926829 175926829 single base substitution G C downstream_gene_variant BRCA-EU 5 175926829 175926829 single base substitution G C intron_variant BRCA-EU 5 175926837 175926837 single base substitution G C downstream_gene_variant BRCA-EU 5 175926837 175926837 single base substitution G C intron_variant BRCA-EU 5 175926882 175926882 single base substitution G C downstream_gene_variant BRCA-EU 5 175926882 175926882 single base substitution G C intron_variant BRCA-EU 5 175927070 175927070 single base substitution G A downstream_gene_variant BRCA-EU 5 175927070 175927070 single base substitution G A missense_variant E360K 1078G>A BRCA-EU 5 175928086 175928086 single base substitution G C downstream_gene_variant BRCA-EU 5 175928086 175928086 single base substitution G C intron_variant BRCA-EU 5 175928778 175928778 single base substitution A G downstream_gene_variant BRCA-EU 5 175928778 175928778 single base substitution A G intron_variant BRCA-EU 5 175929290 175929290 single base substitution G A downstream_gene_variant BRCA-EU 5 175929290 175929290 single base substitution G A intron_variant BRCA-EU 5 175929769 175929769 single base substitution G A downstream_gene_variant BRCA-EU 5 175929769 175929769 single base substitution G A intron_variant BRCA-EU 5 175929917 175929917 single base substitution C T downstream_gene_variant BRCA-EU 5 175929917 175929917 single base substitution C T intron_variant BRCA-EU 5 175933368 175933368 single base substitution G T intron_variant BRCA-EU 5 175933478 175933478 single base substitution T C intron_variant BRCA-EU 5 175937385 175937385 single base substitution G C downstream_gene_variant BRCA-EU 5 175937916 175937916 single base substitution C T downstream_gene_variant BRCA-EU 5 175938161 175938161 single base substitution T A downstream_gene_variant BRCA-EU 5 175938357 175938357 single base substitution G A downstream_gene_variant BRCA-EU 5 175938362 175938362 single base substitution A T downstream_gene_variant BRCA-EU 5 175938550 175938550 single base substitution G C downstream_gene_variant BRCA-EU 5 175938658 175938658 single base substitution G C downstream_gene_variant BRCA-EU 5 175938995 175938995 single base substitution G A downstream_gene_variant BRCA-EU 5 175939052 175939052 single base substitution G T downstream_gene_variant BRCA-EU 5 175939234 175939234 single base substitution G T downstream_gene_variant BRCA-EU 5 175940339 175940339 single base substitution G T downstream_gene_variant BRCA-EU 5 175941608 175941608 single base substitution A G downstream_gene_variant BRCA-EU 5 175941807 175941807 single base substitution T A downstream_gene_variant BRCA-FR 5 175880329 175880329 single base substitution G C exon_variant BRCA-FR 5 175880329 175880329 single base substitution G C intron_variant BRCA-FR 5 175883090 175883090 single base substitution G C downstream_gene_variant BRCA-FR 5 175883090 175883090 single base substitution G C intron_variant BRCA-FR 5 175883160 175883160 single base substitution C T downstream_gene_variant BRCA-FR 5 175883160 175883160 single base substitution C T intron_variant BRCA-FR 5 175886658 175886658 single base substitution C A intron_variant BRCA-FR 5 175895067 175895067 single base substitution G C intron_variant BRCA-FR 5 175913572 175913572 single base substitution G C downstream_gene_variant BRCA-FR 5 175913572 175913572 single base substitution G C intron_variant BRCA-FR 5 175919064 175919064 single base substitution C A downstream_gene_variant BRCA-FR 5 175919064 175919064 single base substitution C A intron_variant BRCA-FR 5 175919064 175919064 single base substitution C A upstream_gene_variant BRCA-FR 5 175929290 175929290 single base substitution G A downstream_gene_variant BRCA-FR 5 175929290 175929290 single base substitution G A intron_variant BRCA-FR 5 175939052 175939052 single base substitution G T downstream_gene_variant BRCA-FR 5 175939128 175939128 single base substitution C T downstream_gene_variant BRCA-FR 5 175939234 175939234 single base substitution G T downstream_gene_variant BRCA-FR 5 175939389 175939389 single base substitution G T downstream_gene_variant BRCA-FR 5 175940298 175940298 single base substitution C G downstream_gene_variant BRCA-UK 5 175874487 175874487 single base substitution C G upstream_gene_variant BRCA-UK 5 175928778 175928778 single base substitution A G downstream_gene_variant BRCA-UK 5 175928778 175928778 single base substitution A G intron_variant BRCA-UK 5 175930457 175930457 single base substitution G A downstream_gene_variant BRCA-UK 5 175930457 175930457 single base substitution G A intron_variant BRCA-UK 5 175933478 175933478 single base substitution T C intron_variant BRCA-UK 5 175940719 175940719 single base substitution C G downstream_gene_variant BRCA-US 5 175875421 175875421 single base substitution G C intron_variant BRCA-US 5 175875421 175875421 single base substitution G C missense_variant E5Q 13G>C BRCA-US 5 175875421 175875421 single base substitution G C upstream_gene_variant BRCA-US 5 175875463 175875463 single base substitution C A exon_variant BRCA-US 5 175875463 175875463 single base substitution C A intron_variant BRCA-US 5 175875463 175875463 single base substitution C A missense_variant Q19K 55C>A BRCA-US 5 175875463 175875463 single base substitution C A upstream_gene_variant BRCA-US 5 175916028 175916028 single base substitution G T downstream_gene_variant BRCA-US 5 175916028 175916028 single base substitution G T exon_variant BRCA-US 5 175916028 175916028 single base substitution G T missense_variant R115M 344G>T BRCA-US 5 175916028 175916028 single base substitution G T upstream_gene_variant BTCA-JP 5 175875111 175875111 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 5 175875111 175875111 single base substitution C A upstream_gene_variant BTCA-JP 5 175933923 175933923 insertion of <=200bp - T frameshift_variant L437L? CESC-US 5 175906255 175906255 single base substitution G C missense_variant E24Q 70G>C CESC-US 5 175906255 175906255 single base substitution G C missense_variant E44Q 130G>C CESC-US 5 175906255 175906255 single base substitution G C splice_region_variant CLLE-ES 5 175880564 175880564 single base substitution T C downstream_gene_variant CLLE-ES 5 175880564 175880564 single base substitution T C exon_variant CLLE-ES 5 175880564 175880564 single base substitution T C intron_variant CLLE-ES 5 175895612 175895612 single base substitution C G intron_variant CLLE-ES 5 175895801 175895801 single base substitution T G intron_variant CLLE-ES 5 175906319 175906319 single base substitution G A intron_variant CLLE-ES 5 175907814 175907814 single base substitution T G intron_variant CLLE-ES 5 175928019 175928019 single base substitution T A downstream_gene_variant CLLE-ES 5 175928019 175928019 single base substitution T A intron_variant CLLE-ES 5 175941964 175941965 deletion of <=200bp CT - downstream_gene_variant COAD-US 5 175906204 175906204 single base substitution G A exon_variant COAD-US 5 175906204 175906204 single base substitution G A missense_variant E27K 79G>A COAD-US 5 175906204 175906204 single base substitution G A missense_variant E7K 19G>A COAD-US 5 175913451 175913451 single base substitution C T downstream_gene_variant COAD-US 5 175913451 175913451 single base substitution C T exon_variant COAD-US 5 175913451 175913451 single base substitution C T synonymous_variant H76H 228C>T COAD-US 5 175921228 175921228 single base substitution A G exon_variant COAD-US 5 175921228 175921228 single base substitution A G missense_variant R205G 613A>G COAD-US 5 175926005 175926005 single base substitution G A downstream_gene_variant COAD-US 5 175926005 175926005 single base substitution G A synonymous_variant K310K 930G>A COAD-US 5 175933767 175933767 single base substitution A T splice_acceptor_variant COCA-CN 5 175871709 175871709 single base substitution G T upstream_gene_variant COCA-CN 5 175875426 175875426 single base substitution G C intron_variant COCA-CN 5 175875426 175875426 single base substitution G C missense_variant E6D 18G>C COCA-CN 5 175875426 175875426 single base substitution G C upstream_gene_variant COCA-CN 5 175881558 175881558 single base substitution A C downstream_gene_variant COCA-CN 5 175881558 175881558 single base substitution A C intron_variant COCA-CN 5 175885429 175885429 single base substitution G T downstream_gene_variant COCA-CN 5 175885429 175885429 single base substitution G T intron_variant COCA-CN 5 175897330 175897330 single base substitution G A intron_variant COCA-CN 5 175906128 175906128 single base substitution A T intron_variant COCA-CN 5 175906401 175906401 single base substitution G A intron_variant COCA-CN 5 175925859 175925859 single base substitution A G downstream_gene_variant COCA-CN 5 175925859 175925859 single base substitution A G intron_variant COCA-CN 5 175927132 175927132 single base substitution T G downstream_gene_variant COCA-CN 5 175927132 175927132 single base substitution T G missense_variant F380L 1140T>G COCA-CN 5 175927316 175927316 single base substitution C A downstream_gene_variant COCA-CN 5 175927316 175927316 single base substitution C A intron_variant COCA-CN 5 175932010 175932010 single base substitution C T intron_variant COCA-CN 5 175932016 175932016 single base substitution C G intron_variant COCA-CN 5 175933707 175933707 single base substitution C T intron_variant COCA-CN 5 175933722 175933722 single base substitution A G intron_variant ESAD-UK 5 175873649 175873650 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 5 175873655 175873655 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 175874227 175874227 single base substitution A C upstream_gene_variant ESAD-UK 5 175877028 175877028 single base substitution C A intron_variant ESAD-UK 5 175877028 175877028 single base substitution C A upstream_gene_variant ESAD-UK 5 175877590 175877590 single base substitution T C intron_variant ESAD-UK 5 175877590 175877590 single base substitution T C upstream_gene_variant ESAD-UK 5 175877734 175877734 single base substitution T G intron_variant ESAD-UK 5 175877734 175877734 single base substitution T G upstream_gene_variant ESAD-UK 5 175877770 175877770 single base substitution G T intron_variant ESAD-UK 5 175877770 175877770 single base substitution G T upstream_gene_variant ESAD-UK 5 175878296 175878296 single base substitution C T intron_variant ESAD-UK 5 175878296 175878296 single base substitution C T upstream_gene_variant ESAD-UK 5 175880901 175880901 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 175880901 175880901 deletion of <=200bp A - intron_variant ESAD-UK 5 175881809 175881809 single base substitution C G downstream_gene_variant ESAD-UK 5 175881809 175881809 single base substitution C G intron_variant ESAD-UK 5 175882296 175882296 single base substitution G A downstream_gene_variant ESAD-UK 5 175882296 175882296 single base substitution G A intron_variant ESAD-UK 5 175882821 175882821 single base substitution G A downstream_gene_variant ESAD-UK 5 175882821 175882821 single base substitution G A intron_variant ESAD-UK 5 175883656 175883656 single base substitution C A downstream_gene_variant ESAD-UK 5 175883656 175883656 single base substitution C A intron_variant ESAD-UK 5 175884726 175884726 single base substitution A T downstream_gene_variant ESAD-UK 5 175884726 175884726 single base substitution A T intron_variant ESAD-UK 5 175886160 175886160 deletion of <=200bp T - intron_variant ESAD-UK 5 175887882 175887882 single base substitution G C intron_variant ESAD-UK 5 175892172 175892172 single base substitution G A intron_variant ESAD-UK 5 175896078 175896078 single base substitution G T intron_variant ESAD-UK 5 175897252 175897252 single base substitution C A intron_variant ESAD-UK 5 175902298 175902298 deletion of <=200bp T - intron_variant ESAD-UK 5 175903283 175903283 deletion of <=200bp A - intron_variant ESAD-UK 5 175905997 175905997 deletion of <=200bp T - intron_variant ESAD-UK 5 175906454 175906454 single base substitution T G intron_variant ESAD-UK 5 175910850 175910850 single base substitution G A intron_variant ESAD-UK 5 175911148 175911148 single base substitution C T intron_variant ESAD-UK 5 175912204 175912204 single base substitution A G intron_variant ESAD-UK 5 175914988 175914988 single base substitution C T downstream_gene_variant ESAD-UK 5 175914988 175914988 single base substitution C T intron_variant ESAD-UK 5 175914988 175914988 single base substitution C T upstream_gene_variant ESAD-UK 5 175915444 175915444 single base substitution G C downstream_gene_variant ESAD-UK 5 175915444 175915444 single base substitution G C intron_variant ESAD-UK 5 175915444 175915444 single base substitution G C upstream_gene_variant ESAD-UK 5 175918100 175918100 single base substitution G C downstream_gene_variant ESAD-UK 5 175918100 175918100 single base substitution G C intron_variant ESAD-UK 5 175918100 175918100 single base substitution G C upstream_gene_variant ESAD-UK 5 175918165 175918165 single base substitution T C downstream_gene_variant ESAD-UK 5 175918165 175918165 single base substitution T C intron_variant ESAD-UK 5 175918165 175918165 single base substitution T C upstream_gene_variant ESAD-UK 5 175919152 175919152 single base substitution G T downstream_gene_variant ESAD-UK 5 175919152 175919152 single base substitution G T intron_variant ESAD-UK 5 175919152 175919152 single base substitution G T upstream_gene_variant ESAD-UK 5 175924395 175924395 single base substitution A T downstream_gene_variant ESAD-UK 5 175924395 175924395 single base substitution A T intron_variant ESAD-UK 5 175924775 175924775 single base substitution T G downstream_gene_variant ESAD-UK 5 175924775 175924775 single base substitution T G intron_variant ESAD-UK 5 175925403 175925404 deletion of <=200bp AG - downstream_gene_variant ESAD-UK 5 175925403 175925404 deletion of <=200bp AG - intron_variant ESAD-UK 5 175926478 175926478 single base substitution T C downstream_gene_variant ESAD-UK 5 175926478 175926478 single base substitution T C intron_variant ESAD-UK 5 175928129 175928129 single base substitution A T downstream_gene_variant ESAD-UK 5 175928129 175928129 single base substitution A T intron_variant ESAD-UK 5 175929283 175929283 single base substitution T A downstream_gene_variant ESAD-UK 5 175929283 175929283 single base substitution T A intron_variant ESAD-UK 5 175930922 175930922 single base substitution G A downstream_gene_variant ESAD-UK 5 175930922 175930922 single base substitution G A intron_variant ESAD-UK 5 175939175 175939175 single base substitution G T downstream_gene_variant ESAD-UK 5 175939491 175939491 single base substitution C T downstream_gene_variant ESAD-UK 5 175940340 175940340 single base substitution C T downstream_gene_variant ESAD-UK 5 175940629 175940629 single base substitution T G downstream_gene_variant LAML-KR 5 175877572 175877572 single base substitution G T intron_variant LAML-KR 5 175877572 175877572 single base substitution G T upstream_gene_variant LAML-KR 5 175885604 175885604 single base substitution A G intron_variant LAML-KR 5 175887555 175887555 single base substitution A G intron_variant LAML-KR 5 175915861 175915861 single base substitution G A downstream_gene_variant LAML-KR 5 175915861 175915861 single base substitution G A intron_variant LAML-KR 5 175915861 175915861 single base substitution G A upstream_gene_variant LGG-US 5 175913383 175913383 insertion of <=200bp - A exon_variant LGG-US 5 175913383 175913383 insertion of <=200bp - A frameshift_variant Q34T? LGG-US 5 175913383 175913383 insertion of <=200bp - A frameshift_variant Q54T? LICA-CN 5 175921217 175921217 single base substitution T G exon_variant LICA-CN 5 175921217 175921217 single base substitution T G missense_variant L201R 602T>G LICA-CN 5 175933807 175933807 single base substitution A G synonymous_variant P398P 1194A>G LICA-FR 5 175878878 175878878 single base substitution T C intron_variant LICA-FR 5 175878878 175878878 single base substitution T C upstream_gene_variant LICA-FR 5 175881349 175881349 single base substitution G T downstream_gene_variant LICA-FR 5 175881349 175881349 single base substitution G T intron_variant LICA-FR 5 175885465 175885465 single base substitution C T downstream_gene_variant LICA-FR 5 175885465 175885465 single base substitution C T intron_variant LINC-JP 5 175885896 175885896 single base substitution C G intron_variant LINC-JP 5 175886988 175886988 single base substitution G T intron_variant LINC-JP 5 175886989 175886989 single base substitution G T intron_variant LINC-JP 5 175902147 175902147 single base substitution A G intron_variant LINC-JP 5 175904246 175904246 deletion of <=200bp T - intron_variant LINC-JP 5 175904246 175904247 deletion of <=200bp TT - intron_variant LINC-JP 5 175904883 175904883 single base substitution C G intron_variant LINC-JP 5 175913684 175913684 single base substitution T C downstream_gene_variant LINC-JP 5 175913684 175913684 single base substitution T C intron_variant LINC-JP 5 175913685 175913685 single base substitution C T downstream_gene_variant LINC-JP 5 175913685 175913685 single base substitution C T intron_variant LINC-JP 5 175916302 175916302 single base substitution C A downstream_gene_variant LINC-JP 5 175916302 175916302 single base substitution C A intron_variant LINC-JP 5 175916302 175916302 single base substitution C A upstream_gene_variant LINC-JP 5 175916303 175916303 single base substitution A C downstream_gene_variant LINC-JP 5 175916303 175916303 single base substitution A C intron_variant LINC-JP 5 175916303 175916303 single base substitution A C upstream_gene_variant LINC-JP 5 175917004 175917004 single base substitution A G downstream_gene_variant LINC-JP 5 175917004 175917004 single base substitution A G intron_variant LINC-JP 5 175917004 175917004 single base substitution A G upstream_gene_variant LINC-JP 5 175924251 175924251 deletion of <=200bp A - downstream_gene_variant LINC-JP 5 175924251 175924251 deletion of <=200bp A - intron_variant LINC-JP 5 175930688 175930688 single base substitution A G downstream_gene_variant LINC-JP 5 175930688 175930688 single base substitution A G intron_variant LINC-JP 5 175933888 175933888 single base substitution G A synonymous_variant T425T 1275G>A LIRI-JP 5 175871406 175871406 single base substitution C T upstream_gene_variant LIRI-JP 5 175872818 175872818 single base substitution T C upstream_gene_variant LIRI-JP 5 175875184 175875184 single base substitution G T intron_variant LIRI-JP 5 175875184 175875184 single base substitution G T upstream_gene_variant LIRI-JP 5 175880143 175880143 single base substitution A G exon_variant LIRI-JP 5 175880143 175880143 single base substitution A G intron_variant LIRI-JP 5 175882110 175882110 single base substitution C T downstream_gene_variant LIRI-JP 5 175882110 175882110 single base substitution C T intron_variant LIRI-JP 5 175882964 175882964 single base substitution T G downstream_gene_variant LIRI-JP 5 175882964 175882964 single base substitution T G intron_variant LIRI-JP 5 175883003 175883003 insertion of <=200bp - T downstream_gene_variant LIRI-JP 5 175883003 175883003 insertion of <=200bp - T intron_variant LIRI-JP 5 175883692 175883692 single base substitution G C downstream_gene_variant LIRI-JP 5 175883692 175883692 single base substitution G C intron_variant LIRI-JP 5 175885154 175885154 single base substitution C A downstream_gene_variant LIRI-JP 5 175885154 175885154 single base substitution C A intron_variant LIRI-JP 5 175885308 175885308 single base substitution C T downstream_gene_variant LIRI-JP 5 175885308 175885308 single base substitution C T intron_variant LIRI-JP 5 175885879 175885879 single base substitution C T intron_variant LIRI-JP 5 175886733 175886733 single base substitution C T intron_variant LIRI-JP 5 175886783 175886783 single base substitution A G intron_variant LIRI-JP 5 175887169 175887169 single base substitution A G intron_variant LIRI-JP 5 175887725 175887725 single base substitution G A intron_variant LIRI-JP 5 175888489 175888489 single base substitution T A intron_variant LIRI-JP 5 175889669 175889669 single base substitution A G intron_variant LIRI-JP 5 175890033 175890035 deletion of <=200bp ATA - intron_variant LIRI-JP 5 175891805 175891805 single base substitution T A intron_variant LIRI-JP 5 175893395 175893395 single base substitution T G intron_variant LIRI-JP 5 175893461 175893461 single base substitution C A intron_variant LIRI-JP 5 175893461 175893461 single base substitution C G intron_variant LIRI-JP 5 175894523 175894523 single base substitution G A intron_variant LIRI-JP 5 175894531 175894531 single base substitution C T intron_variant LIRI-JP 5 175895618 175895618 single base substitution T G intron_variant LIRI-JP 5 175897759 175897759 single base substitution T G intron_variant LIRI-JP 5 175901157 175901157 single base substitution A C intron_variant LIRI-JP 5 175901250 175901250 single base substitution C G intron_variant LIRI-JP 5 175906672 175906672 single base substitution A G intron_variant LIRI-JP 5 175906859 175906859 single base substitution G T intron_variant LIRI-JP 5 175908904 175908904 single base substitution G A intron_variant LIRI-JP 5 175908936 175908936 single base substitution G T intron_variant LIRI-JP 5 175909424 175909424 single base substitution G C intron_variant LIRI-JP 5 175909457 175909457 single base substitution A G intron_variant LIRI-JP 5 175909552 175909552 single base substitution C G intron_variant LIRI-JP 5 175910555 175910555 single base substitution T C intron_variant LIRI-JP 5 175910559 175910559 single base substitution T G intron_variant LIRI-JP 5 175910576 175910576 single base substitution C T intron_variant LIRI-JP 5 175912067 175912067 single base substitution G A intron_variant LIRI-JP 5 175916247 175916247 single base substitution C T downstream_gene_variant LIRI-JP 5 175916247 175916247 single base substitution C T intron_variant LIRI-JP 5 175916247 175916247 single base substitution C T upstream_gene_variant LIRI-JP 5 175918532 175918539 deletion of <=200bp AGTTGAAT - downstream_gene_variant LIRI-JP 5 175918532 175918539 deletion of <=200bp AGTTGAAT - intron_variant LIRI-JP 5 175918532 175918539 deletion of <=200bp AGTTGAAT - upstream_gene_variant LIRI-JP 5 175919988 175919988 single base substitution T G downstream_gene_variant LIRI-JP 5 175919988 175919988 single base substitution T G intron_variant LIRI-JP 5 175919988 175919988 single base substitution T G upstream_gene_variant LIRI-JP 5 175921043 175921043 single base substitution A G exon_variant LIRI-JP 5 175921043 175921043 single base substitution A G missense_variant Y176C 527A>G LIRI-JP 5 175921635 175921635 single base substitution A T intron_variant LIRI-JP 5 175925444 175925444 single base substitution A G downstream_gene_variant LIRI-JP 5 175925444 175925444 single base substitution A G intron_variant LIRI-JP 5 175925991 175925991 single base substitution G T downstream_gene_variant LIRI-JP 5 175925991 175925991 single base substitution G T stop_gained E306* 916G>T LIRI-JP 5 175927891 175927891 single base substitution G A downstream_gene_variant LIRI-JP 5 175927891 175927891 single base substitution G A intron_variant LIRI-JP 5 175928342 175928342 single base substitution A G downstream_gene_variant LIRI-JP 5 175928342 175928342 single base substitution A G intron_variant LIRI-JP 5 175931932 175931932 single base substitution G A intron_variant LIRI-JP 5 175934053 175934053 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 175934122 175934122 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 175934887 175934887 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 175941080 175941080 single base substitution T C downstream_gene_variant LIRI-JP 5 175941247 175941247 insertion of <=200bp - T downstream_gene_variant LUSC-KR 5 175870067 175870067 single base substitution C A upstream_gene_variant LUSC-KR 5 175877699 175877699 single base substitution C T intron_variant LUSC-KR 5 175877699 175877699 single base substitution C T upstream_gene_variant LUSC-KR 5 175889170 175889170 single base substitution G C intron_variant LUSC-KR 5 175889210 175889210 single base substitution G C intron_variant LUSC-KR 5 175890675 175890675 single base substitution G C intron_variant LUSC-KR 5 175894264 175894264 single base substitution G T intron_variant LUSC-KR 5 175897945 175897945 single base substitution C T intron_variant LUSC-KR 5 175906853 175906853 single base substitution G A intron_variant LUSC-KR 5 175915179 175915179 single base substitution A G downstream_gene_variant LUSC-KR 5 175915179 175915179 single base substitution A G intron_variant LUSC-KR 5 175915179 175915179 single base substitution A G upstream_gene_variant LUSC-KR 5 175915861 175915861 single base substitution G A downstream_gene_variant LUSC-KR 5 175915861 175915861 single base substitution G A intron_variant LUSC-KR 5 175915861 175915861 single base substitution G A upstream_gene_variant LUSC-KR 5 175919671 175919671 single base substitution A T downstream_gene_variant LUSC-KR 5 175919671 175919671 single base substitution A T intron_variant LUSC-KR 5 175919671 175919671 single base substitution A T upstream_gene_variant LUSC-KR 5 175920108 175920108 single base substitution G A downstream_gene_variant LUSC-KR 5 175920108 175920108 single base substitution G A intron_variant LUSC-KR 5 175920108 175920108 single base substitution G A upstream_gene_variant LUSC-KR 5 175922400 175922400 single base substitution G C intron_variant LUSC-KR 5 175931458 175931458 single base substitution G T intron_variant LUSC-KR 5 175937809 175937809 single base substitution G T downstream_gene_variant LUSC-KR 5 175938512 175938512 single base substitution G T downstream_gene_variant LUSC-KR 5 175940726 175940726 single base substitution C T downstream_gene_variant LUSC-KR 5 175941056 175941056 single base substitution A G downstream_gene_variant LUSC-KR 5 175941376 175941376 single base substitution C G downstream_gene_variant LUSC-KR 5 175942001 175942001 single base substitution C T downstream_gene_variant LUSC-US 5 175933902 175933902 single base substitution G C missense_variant G430A 1289G>C MALY-DE 5 175877046 175877046 single base substitution A G intron_variant MALY-DE 5 175877046 175877046 single base substitution A G upstream_gene_variant MALY-DE 5 175877582 175877582 single base substitution T G intron_variant MALY-DE 5 175877582 175877582 single base substitution T G upstream_gene_variant MALY-DE 5 175890872 175890872 single base substitution A C intron_variant MALY-DE 5 175891760 175891760 single base substitution T A intron_variant MALY-DE 5 175896431 175896431 single base substitution C T intron_variant MALY-DE 5 175906734 175906734 single base substitution G A intron_variant MALY-DE 5 175908918 175908918 single base substitution C T intron_variant MALY-DE 5 175909644 175909644 single base substitution G A intron_variant MALY-DE 5 175915486 175915486 single base substitution G A downstream_gene_variant MALY-DE 5 175915486 175915486 single base substitution G A intron_variant MALY-DE 5 175915486 175915486 single base substitution G A upstream_gene_variant MALY-DE 5 175917207 175917207 single base substitution G A downstream_gene_variant MALY-DE 5 175917207 175917207 single base substitution G A intron_variant MALY-DE 5 175917207 175917207 single base substitution G A upstream_gene_variant MALY-DE 5 175920225 175920225 single base substitution G A downstream_gene_variant MALY-DE 5 175920225 175920225 single base substitution G A intron_variant MALY-DE 5 175920225 175920225 single base substitution G A upstream_gene_variant MALY-DE 5 175921707 175921707 single base substitution C G intron_variant MALY-DE 5 175923504 175923504 single base substitution G A exon_variant MALY-DE 5 175923504 175923504 single base substitution G A missense_variant E227K 679G>A MALY-DE 5 175934527 175934527 single base substitution A T 3_prime_UTR_variant MALY-DE 5 175937635 175937635 single base substitution A G downstream_gene_variant MELA-AU 5 175869748 175869748 single base substitution A G upstream_gene_variant MELA-AU 5 175869948 175869948 single base substitution G A upstream_gene_variant MELA-AU 5 175870121 175870121 single base substitution G A upstream_gene_variant MELA-AU 5 175870278 175870278 single base substitution G A upstream_gene_variant MELA-AU 5 175870503 175870504 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 175871084 175871084 single base substitution C T upstream_gene_variant MELA-AU 5 175871187 175871187 single base substitution A G upstream_gene_variant MELA-AU 5 175871460 175871460 single base substitution C T upstream_gene_variant MELA-AU 5 175871565 175871565 single base substitution G A upstream_gene_variant MELA-AU 5 175871755 175871755 single base substitution C T upstream_gene_variant MELA-AU 5 175872229 175872229 single base substitution A C upstream_gene_variant MELA-AU 5 175872781 175872782 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 175873139 175873139 single base substitution G A upstream_gene_variant MELA-AU 5 175873143 175873143 single base substitution C T upstream_gene_variant MELA-AU 5 175874309 175874309 single base substitution G A upstream_gene_variant MELA-AU 5 175874360 175874361 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 5 175875277 175875277 single base substitution G T intron_variant MELA-AU 5 175875277 175875277 single base substitution G T upstream_gene_variant MELA-AU 5 175875432 175875432 single base substitution T G exon_variant MELA-AU 5 175875432 175875432 single base substitution T G intron_variant MELA-AU 5 175875432 175875432 single base substitution T G missense_variant D8E 24T>G MELA-AU 5 175875432 175875432 single base substitution T G upstream_gene_variant MELA-AU 5 175875439 175875439 single base substitution C T exon_variant MELA-AU 5 175875439 175875439 single base substitution C T intron_variant MELA-AU 5 175875439 175875439 single base substitution C T stop_gained Q11* 31C>T MELA-AU 5 175875439 175875439 single base substitution C T upstream_gene_variant MELA-AU 5 175876117 175876117 single base substitution G T intron_variant MELA-AU 5 175876117 175876117 single base substitution G T upstream_gene_variant MELA-AU 5 175876479 175876479 single base substitution G A intron_variant MELA-AU 5 175876479 175876479 single base substitution G A upstream_gene_variant MELA-AU 5 175877283 175877283 single base substitution C T intron_variant MELA-AU 5 175877283 175877283 single base substitution C T upstream_gene_variant MELA-AU 5 175877386 175877386 single base substitution C T intron_variant MELA-AU 5 175877386 175877386 single base substitution C T upstream_gene_variant MELA-AU 5 175877584 175877584 single base substitution C T intron_variant MELA-AU 5 175877584 175877584 single base substitution C T upstream_gene_variant MELA-AU 5 175877588 175877588 single base substitution C T intron_variant MELA-AU 5 175877588 175877588 single base substitution C T upstream_gene_variant MELA-AU 5 175877623 175877623 single base substitution C G intron_variant MELA-AU 5 175877623 175877623 single base substitution C G upstream_gene_variant MELA-AU 5 175877789 175877789 single base substitution C T intron_variant MELA-AU 5 175877789 175877789 single base substitution C T upstream_gene_variant MELA-AU 5 175880411 175880411 single base substitution C T exon_variant MELA-AU 5 175880411 175880411 single base substitution C T intron_variant MELA-AU 5 175880920 175880920 single base substitution C T downstream_gene_variant MELA-AU 5 175880920 175880920 single base substitution C T intron_variant MELA-AU 5 175881191 175881191 single base substitution C T downstream_gene_variant MELA-AU 5 175881191 175881191 single base substitution C T intron_variant MELA-AU 5 175882698 175882698 single base substitution C T downstream_gene_variant MELA-AU 5 175882698 175882698 single base substitution C T intron_variant MELA-AU 5 175882888 175882888 single base substitution C T downstream_gene_variant MELA-AU 5 175882888 175882888 single base substitution C T intron_variant MELA-AU 5 175884289 175884289 single base substitution A T downstream_gene_variant MELA-AU 5 175884289 175884289 single base substitution A T intron_variant MELA-AU 5 175884407 175884407 single base substitution G A downstream_gene_variant MELA-AU 5 175884407 175884407 single base substitution G A intron_variant MELA-AU 5 175884923 175884923 single base substitution C T downstream_gene_variant MELA-AU 5 175884923 175884923 single base substitution C T intron_variant MELA-AU 5 175885279 175885279 single base substitution C T downstream_gene_variant MELA-AU 5 175885279 175885279 single base substitution C T intron_variant MELA-AU 5 175885559 175885559 single base substitution C T downstream_gene_variant MELA-AU 5 175885559 175885559 single base substitution C T intron_variant MELA-AU 5 175885632 175885632 single base substitution C T intron_variant MELA-AU 5 175886998 175886998 single base substitution T C intron_variant MELA-AU 5 175887231 175887231 single base substitution C T intron_variant MELA-AU 5 175887555 175887555 single base substitution A G intron_variant MELA-AU 5 175888426 175888426 single base substitution C T intron_variant MELA-AU 5 175888574 175888574 single base substitution C T intron_variant MELA-AU 5 175889076 175889076 single base substitution G A intron_variant MELA-AU 5 175889256 175889256 single base substitution G C intron_variant MELA-AU 5 175893233 175893233 single base substitution C T intron_variant MELA-AU 5 175893970 175893970 single base substitution G T intron_variant MELA-AU 5 175894051 175894051 single base substitution G T intron_variant MELA-AU 5 175894323 175894323 deletion of <=200bp T - intron_variant MELA-AU 5 175894329 175894329 single base substitution T G intron_variant MELA-AU 5 175894331 175894331 single base substitution G T intron_variant MELA-AU 5 175894392 175894392 single base substitution T G intron_variant MELA-AU 5 175895050 175895050 single base substitution C T intron_variant MELA-AU 5 175895706 175895706 single base substitution G A intron_variant MELA-AU 5 175895777 175895777 single base substitution C T intron_variant MELA-AU 5 175897110 175897110 single base substitution C T intron_variant MELA-AU 5 175897501 175897502 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 175897532 175897532 single base substitution C T intron_variant MELA-AU 5 175897648 175897648 single base substitution A T intron_variant MELA-AU 5 175898769 175898769 single base substitution C T intron_variant MELA-AU 5 175898908 175898908 single base substitution C T intron_variant MELA-AU 5 175898913 175898914 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 175899015 175899015 single base substitution C A intron_variant MELA-AU 5 175899167 175899167 single base substitution C T intron_variant MELA-AU 5 175899259 175899259 single base substitution T G intron_variant MELA-AU 5 175899271 175899271 single base substitution C G intron_variant MELA-AU 5 175900015 175900015 single base substitution C T intron_variant MELA-AU 5 175900927 175900927 single base substitution G A intron_variant MELA-AU 5 175901211 175901211 single base substitution C T intron_variant MELA-AU 5 175901928 175901928 single base substitution C T intron_variant MELA-AU 5 175902877 175902877 single base substitution C T intron_variant MELA-AU 5 175903215 175903215 single base substitution C T intron_variant MELA-AU 5 175903459 175903459 single base substitution C T intron_variant MELA-AU 5 175903486 175903486 single base substitution C T intron_variant MELA-AU 5 175903724 175903724 single base substitution C T intron_variant MELA-AU 5 175904044 175904044 single base substitution C T intron_variant MELA-AU 5 175905069 175905069 single base substitution G A intron_variant MELA-AU 5 175905304 175905304 single base substitution C T intron_variant MELA-AU 5 175906107 175906107 single base substitution C T intron_variant MELA-AU 5 175906448 175906448 single base substitution C T intron_variant MELA-AU 5 175906954 175906955 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 175907151 175907151 single base substitution C T intron_variant MELA-AU 5 175907905 175907905 single base substitution C T intron_variant MELA-AU 5 175908139 175908139 single base substitution C T intron_variant MELA-AU 5 175908247 175908247 single base substitution C T intron_variant MELA-AU 5 175908919 175908920 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 5 175909412 175909412 single base substitution C T intron_variant MELA-AU 5 175910196 175910196 single base substitution T A intron_variant MELA-AU 5 175910256 175910256 single base substitution C T intron_variant MELA-AU 5 175910531 175910531 single base substitution C T intron_variant MELA-AU 5 175911675 175911675 single base substitution T C intron_variant MELA-AU 5 175911921 175911921 single base substitution C T intron_variant MELA-AU 5 175913154 175913154 single base substitution C T intron_variant MELA-AU 5 175913276 175913276 single base substitution C T intron_variant MELA-AU 5 175913522 175913522 single base substitution T A downstream_gene_variant MELA-AU 5 175913522 175913522 single base substitution T A intron_variant MELA-AU 5 175913563 175913563 single base substitution C G downstream_gene_variant MELA-AU 5 175913563 175913563 single base substitution C G intron_variant MELA-AU 5 175914692 175914692 single base substitution T G downstream_gene_variant MELA-AU 5 175914692 175914692 single base substitution T G intron_variant MELA-AU 5 175914692 175914692 single base substitution T G upstream_gene_variant MELA-AU 5 175914917 175914917 single base substitution C T downstream_gene_variant MELA-AU 5 175914917 175914917 single base substitution C T intron_variant MELA-AU 5 175914917 175914917 single base substitution C T upstream_gene_variant MELA-AU 5 175914995 175914995 single base substitution C T downstream_gene_variant MELA-AU 5 175914995 175914995 single base substitution C T intron_variant MELA-AU 5 175914995 175914995 single base substitution C T upstream_gene_variant MELA-AU 5 175915040 175915040 single base substitution C A downstream_gene_variant MELA-AU 5 175915040 175915040 single base substitution C A intron_variant MELA-AU 5 175915040 175915040 single base substitution C A upstream_gene_variant MELA-AU 5 175916154 175916154 single base substitution C T downstream_gene_variant MELA-AU 5 175916154 175916154 single base substitution C T intron_variant MELA-AU 5 175916154 175916154 single base substitution C T upstream_gene_variant MELA-AU 5 175916397 175916397 single base substitution C T downstream_gene_variant MELA-AU 5 175916397 175916397 single base substitution C T intron_variant MELA-AU 5 175916397 175916397 single base substitution C T upstream_gene_variant MELA-AU 5 175916806 175916806 single base substitution C T downstream_gene_variant MELA-AU 5 175916806 175916806 single base substitution C T intron_variant MELA-AU 5 175916806 175916806 single base substitution C T upstream_gene_variant MELA-AU 5 175917326 175917326 single base substitution G T downstream_gene_variant MELA-AU 5 175917326 175917326 single base substitution G T intron_variant MELA-AU 5 175917326 175917326 single base substitution G T upstream_gene_variant MELA-AU 5 175918476 175918476 single base substitution C T downstream_gene_variant MELA-AU 5 175918476 175918476 single base substitution C T intron_variant MELA-AU 5 175918476 175918476 single base substitution C T upstream_gene_variant MELA-AU 5 175919585 175919585 single base substitution C T downstream_gene_variant MELA-AU 5 175919585 175919585 single base substitution C T intron_variant MELA-AU 5 175919585 175919585 single base substitution C T upstream_gene_variant MELA-AU 5 175919640 175919640 single base substitution C T downstream_gene_variant MELA-AU 5 175919640 175919640 single base substitution C T intron_variant MELA-AU 5 175919640 175919640 single base substitution C T upstream_gene_variant MELA-AU 5 175919832 175919832 single base substitution C T downstream_gene_variant MELA-AU 5 175919832 175919832 single base substitution C T intron_variant MELA-AU 5 175919832 175919832 single base substitution C T upstream_gene_variant MELA-AU 5 175920244 175920244 single base substitution C T downstream_gene_variant MELA-AU 5 175920244 175920244 single base substitution C T intron_variant MELA-AU 5 175920244 175920244 single base substitution C T upstream_gene_variant MELA-AU 5 175920249 175920249 single base substitution C T downstream_gene_variant MELA-AU 5 175920249 175920249 single base substitution C T intron_variant MELA-AU 5 175920249 175920249 single base substitution C T upstream_gene_variant MELA-AU 5 175920374 175920374 single base substitution C T downstream_gene_variant MELA-AU 5 175920374 175920374 single base substitution C T intron_variant MELA-AU 5 175920374 175920374 single base substitution C T upstream_gene_variant MELA-AU 5 175920896 175920896 single base substitution C T downstream_gene_variant MELA-AU 5 175920896 175920896 single base substitution C T intron_variant MELA-AU 5 175920896 175920896 single base substitution C T upstream_gene_variant MELA-AU 5 175920896 175920897 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 175920896 175920897 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 175920896 175920897 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 175921192 175921192 single base substitution C T exon_variant MELA-AU 5 175921192 175921192 single base substitution C T missense_variant L193F 577C>T MELA-AU 5 175921194 175921194 single base substitution C T exon_variant MELA-AU 5 175921194 175921194 single base substitution C T synonymous_variant L193L 579C>T MELA-AU 5 175921500 175921500 single base substitution C T intron_variant MELA-AU 5 175921773 175921773 single base substitution C T intron_variant MELA-AU 5 175922704 175922704 single base substitution G C intron_variant MELA-AU 5 175922732 175922732 single base substitution C T intron_variant MELA-AU 5 175922737 175922737 single base substitution C T intron_variant MELA-AU 5 175923077 175923077 single base substitution C T intron_variant MELA-AU 5 175923240 175923240 single base substitution G A intron_variant MELA-AU 5 175924505 175924505 single base substitution C T downstream_gene_variant MELA-AU 5 175924505 175924505 single base substitution C T intron_variant MELA-AU 5 175924510 175924510 single base substitution C T downstream_gene_variant MELA-AU 5 175924510 175924510 single base substitution C T intron_variant MELA-AU 5 175926129 175926129 single base substitution C T downstream_gene_variant MELA-AU 5 175926129 175926129 single base substitution C T intron_variant MELA-AU 5 175926437 175926437 single base substitution C T downstream_gene_variant MELA-AU 5 175926437 175926437 single base substitution C T intron_variant MELA-AU 5 175926617 175926617 single base substitution C T downstream_gene_variant MELA-AU 5 175926617 175926617 single base substitution C T intron_variant MELA-AU 5 175927479 175927479 single base substitution C T downstream_gene_variant MELA-AU 5 175927479 175927479 single base substitution C T intron_variant MELA-AU 5 175927814 175927814 single base substitution C T downstream_gene_variant MELA-AU 5 175927814 175927814 single base substitution C T intron_variant MELA-AU 5 175928361 175928361 single base substitution C T downstream_gene_variant MELA-AU 5 175928361 175928361 single base substitution C T intron_variant MELA-AU 5 175928568 175928568 single base substitution C T downstream_gene_variant MELA-AU 5 175928568 175928568 single base substitution C T intron_variant MELA-AU 5 175928877 175928877 single base substitution C T downstream_gene_variant MELA-AU 5 175928877 175928877 single base substitution C T intron_variant MELA-AU 5 175929031 175929031 single base substitution T G downstream_gene_variant MELA-AU 5 175929031 175929031 single base substitution T G intron_variant MELA-AU 5 175929206 175929206 single base substitution C T downstream_gene_variant MELA-AU 5 175929206 175929206 single base substitution C T intron_variant MELA-AU 5 175929736 175929736 single base substitution C T downstream_gene_variant MELA-AU 5 175929736 175929736 single base substitution C T intron_variant MELA-AU 5 175929876 175929876 single base substitution C T downstream_gene_variant MELA-AU 5 175929876 175929876 single base substitution C T intron_variant MELA-AU 5 175930011 175930011 single base substitution T C downstream_gene_variant MELA-AU 5 175930011 175930011 single base substitution T C intron_variant MELA-AU 5 175930335 175930335 single base substitution C T downstream_gene_variant MELA-AU 5 175930335 175930335 single base substitution C T intron_variant MELA-AU 5 175930775 175930775 single base substitution C T downstream_gene_variant MELA-AU 5 175930775 175930775 single base substitution C T intron_variant MELA-AU 5 175931087 175931087 single base substitution G T intron_variant MELA-AU 5 175931880 175931880 single base substitution C G intron_variant MELA-AU 5 175932605 175932605 single base substitution C T intron_variant MELA-AU 5 175932740 175932740 single base substitution C T intron_variant MELA-AU 5 175932987 175932987 single base substitution C T intron_variant MELA-AU 5 175933024 175933024 single base substitution T C intron_variant MELA-AU 5 175933227 175933227 single base substitution C T intron_variant MELA-AU 5 175933491 175933491 single base substitution A G intron_variant MELA-AU 5 175933707 175933707 single base substitution C T intron_variant MELA-AU 5 175933986 175933986 single base substitution C T 3_prime_UTR_variant MELA-AU 5 175934441 175934441 single base substitution C T 3_prime_UTR_variant MELA-AU 5 175934591 175934591 single base substitution T G 3_prime_UTR_variant MELA-AU 5 175935718 175935718 single base substitution C T 3_prime_UTR_variant MELA-AU 5 175936224 175936224 single base substitution C T 3_prime_UTR_variant MELA-AU 5 175936836 175936836 single base substitution C T 3_prime_UTR_variant MELA-AU 5 175937091 175937091 single base substitution C T downstream_gene_variant MELA-AU 5 175937155 175937155 single base substitution G A downstream_gene_variant MELA-AU 5 175937705 175937705 single base substitution C T downstream_gene_variant MELA-AU 5 175937879 175937879 single base substitution T C downstream_gene_variant MELA-AU 5 175938031 175938031 single base substitution C T downstream_gene_variant MELA-AU 5 175938372 175938372 single base substitution A C downstream_gene_variant MELA-AU 5 175938495 175938495 single base substitution A T downstream_gene_variant MELA-AU 5 175939022 175939022 single base substitution C T downstream_gene_variant MELA-AU 5 175939256 175939256 single base substitution C T downstream_gene_variant MELA-AU 5 175940201 175940201 deletion of <=200bp C - downstream_gene_variant MELA-AU 5 175941112 175941112 single base substitution C T downstream_gene_variant MELA-AU 5 175941485 175941485 single base substitution C T downstream_gene_variant ORCA-IN 5 175878432 175878432 single base substitution C G intron_variant ORCA-IN 5 175878432 175878432 single base substitution C G upstream_gene_variant ORCA-IN 5 175887511 175887511 insertion of <=200bp - CG intron_variant ORCA-IN 5 175917495 175917495 single base substitution C T downstream_gene_variant ORCA-IN 5 175917495 175917495 single base substitution C T intron_variant ORCA-IN 5 175917495 175917495 single base substitution C T upstream_gene_variant ORCA-IN 5 175929816 175929816 single base substitution C T downstream_gene_variant ORCA-IN 5 175929816 175929816 single base substitution C T intron_variant ORCA-IN 5 175933208 175933208 deletion of <=200bp C - intron_variant OV-AU 5 175870202 175870202 single base substitution A C upstream_gene_variant OV-AU 5 175870362 175870362 single base substitution C A upstream_gene_variant OV-AU 5 175878374 175878374 single base substitution A C intron_variant OV-AU 5 175878374 175878374 single base substitution A C upstream_gene_variant OV-AU 5 175879842 175879842 single base substitution G A intron_variant OV-AU 5 175879842 175879842 single base substitution G A upstream_gene_variant OV-AU 5 175879855 175879855 single base substitution T C intron_variant OV-AU 5 175879855 175879855 single base substitution T C upstream_gene_variant OV-AU 5 175882417 175882417 single base substitution T C downstream_gene_variant OV-AU 5 175882417 175882417 single base substitution T C intron_variant OV-AU 5 175882426 175882426 single base substitution G C downstream_gene_variant OV-AU 5 175882426 175882426 single base substitution G C intron_variant OV-AU 5 175887136 175887136 single base substitution G T intron_variant OV-AU 5 175888750 175888750 single base substitution T A intron_variant OV-AU 5 175895682 175895682 single base substitution T A intron_variant OV-AU 5 175902184 175902184 single base substitution G A intron_variant OV-AU 5 175916270 175916270 single base substitution G C downstream_gene_variant OV-AU 5 175916270 175916270 single base substitution G C intron_variant OV-AU 5 175916270 175916270 single base substitution G C upstream_gene_variant OV-AU 5 175927111 175927111 single base substitution A T downstream_gene_variant OV-AU 5 175927111 175927111 single base substitution A T synonymous_variant R373R 1119A>T OV-US 5 175921229 175921229 single base substitution G A exon_variant OV-US 5 175921229 175921229 single base substitution G A missense_variant R205K 614G>A PACA-AU 5 175872125 175872125 insertion of <=200bp - T upstream_gene_variant PACA-AU 5 175890823 175890823 single base substitution C T intron_variant PACA-AU 5 175899990 175899990 single base substitution G A intron_variant PACA-AU 5 175900330 175900330 deletion of <=200bp T - intron_variant PACA-AU 5 175904045 175904045 single base substitution G A intron_variant PACA-AU 5 175925727 175925727 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 175925727 175925727 deletion of <=200bp A - intron_variant PACA-AU 5 175925731 175925731 single base substitution A C downstream_gene_variant PACA-AU 5 175925731 175925731 single base substitution A C intron_variant PACA-AU 5 175926049 175926049 single base substitution T G downstream_gene_variant PACA-AU 5 175926049 175926049 single base substitution T G missense_variant V325G 974T>G PACA-AU 5 175927999 175927999 single base substitution G A downstream_gene_variant PACA-AU 5 175927999 175927999 single base substitution G A intron_variant PACA-CA 5 175870300 175870300 single base substitution G A upstream_gene_variant PACA-CA 5 175874610 175874610 single base substitution G A upstream_gene_variant PACA-CA 5 175885540 175885540 single base substitution G A downstream_gene_variant PACA-CA 5 175885540 175885540 single base substitution G A intron_variant PACA-CA 5 175891115 175891127 deletion of <=200bp TTCTTTTTTTTGT - intron_variant PACA-CA 5 175891285 175891285 deletion of <=200bp G - intron_variant PACA-CA 5 175891290 175891290 single base substitution G T intron_variant PACA-CA 5 175891761 175891761 single base substitution A T intron_variant PACA-CA 5 175898762 175898762 single base substitution A G intron_variant PACA-CA 5 175901365 175901365 single base substitution A G intron_variant PACA-CA 5 175908360 175908360 single base substitution T G intron_variant PACA-CA 5 175909476 175909476 single base substitution A G intron_variant PACA-CA 5 175910065 175910065 insertion of <=200bp - T intron_variant PACA-CA 5 175910201 175910201 single base substitution G A intron_variant PACA-CA 5 175922344 175922344 single base substitution G A intron_variant PACA-CA 5 175925954 175925954 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 175925954 175925954 deletion of <=200bp G - exon_variant PACA-CA 5 175925954 175925954 deletion of <=200bp G - frameshift_variant Q293 PACA-CA 5 175932139 175932139 single base substitution G C intron_variant PAEN-IT 5 175899606 175899606 single base substitution C G intron_variant PAEN-IT 5 175901218 175901218 single base substitution G A intron_variant PAEN-IT 5 175918241 175918241 single base substitution G A downstream_gene_variant PAEN-IT 5 175918241 175918241 single base substitution G A intron_variant PAEN-IT 5 175918241 175918241 single base substitution G A upstream_gene_variant PBCA-DE 5 175872444 175872444 deletion of <=200bp T - upstream_gene_variant PBCA-DE 5 175873771 175873771 single base substitution G A upstream_gene_variant PBCA-DE 5 175876577 175876577 deletion of <=200bp A - intron_variant PBCA-DE 5 175876577 175876577 deletion of <=200bp A - upstream_gene_variant PBCA-DE 5 175878777 175878778 deletion of <=200bp GT - intron_variant PBCA-DE 5 175878777 175878778 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 5 175912526 175912526 deletion of <=200bp T - intron_variant PBCA-DE 5 175915485 175915485 single base substitution C T downstream_gene_variant PBCA-DE 5 175915485 175915485 single base substitution C T intron_variant PBCA-DE 5 175915485 175915485 single base substitution C T upstream_gene_variant PBCA-DE 5 175937215 175937215 single base substitution G T downstream_gene_variant PRAD-CA 5 175877251 175877251 single base substitution G C intron_variant PRAD-CA 5 175877251 175877251 single base substitution G C upstream_gene_variant PRAD-CA 5 175926539 175926539 single base substitution T G downstream_gene_variant PRAD-CA 5 175926539 175926539 single base substitution T G intron_variant PRAD-CA 5 175933208 175933208 single base substitution C A intron_variant PRAD-CA 5 175939482 175939482 single base substitution G A downstream_gene_variant PRAD-UK 5 175876061 175876061 single base substitution G T intron_variant PRAD-UK 5 175876061 175876061 single base substitution G T upstream_gene_variant PRAD-UK 5 175876062 175876062 single base substitution G T intron_variant PRAD-UK 5 175876062 175876062 single base substitution G T upstream_gene_variant PRAD-UK 5 175886666 175886666 single base substitution G A intron_variant PRAD-UK 5 175889995 175889995 single base substitution G T intron_variant PRAD-UK 5 175904198 175904198 single base substitution G A intron_variant PRAD-UK 5 175928134 175928134 single base substitution A T downstream_gene_variant PRAD-UK 5 175928134 175928134 single base substitution A T intron_variant PRAD-US 5 175933901 175933901 single base substitution G T stop_gained G430* 1288G>T RECA-EU 5 175875373 175875373 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 5 175875373 175875373 single base substitution G C intron_variant RECA-EU 5 175875373 175875373 single base substitution G C upstream_gene_variant RECA-EU 5 175878422 175878422 single base substitution A T intron_variant RECA-EU 5 175878422 175878422 single base substitution A T upstream_gene_variant RECA-EU 5 175879252 175879252 single base substitution T G intron_variant RECA-EU 5 175879252 175879252 single base substitution T G upstream_gene_variant RECA-EU 5 175883503 175883503 single base substitution G T downstream_gene_variant RECA-EU 5 175883503 175883503 single base substitution G T intron_variant RECA-EU 5 175892296 175892296 single base substitution T A intron_variant RECA-EU 5 175893344 175893344 single base substitution C T intron_variant RECA-EU 5 175900305 175900305 single base substitution T C intron_variant RECA-EU 5 175911117 175911117 single base substitution G C intron_variant RECA-EU 5 175918942 175918942 single base substitution T C downstream_gene_variant RECA-EU 5 175918942 175918942 single base substitution T C intron_variant RECA-EU 5 175918942 175918942 single base substitution T C upstream_gene_variant SKCA-BR 5 175870300 175870300 single base substitution G A upstream_gene_variant SKCA-BR 5 175870652 175870653 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 5 175870955 175870956 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 5 175871282 175871288 deletion of <=200bp AAAATAT - upstream_gene_variant SKCA-BR 5 175871287 175871288 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 5 175871288 175871288 single base substitution T A upstream_gene_variant SKCA-BR 5 175872591 175872591 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 5 175875279 175875279 single base substitution A G intron_variant SKCA-BR 5 175875279 175875279 single base substitution A G upstream_gene_variant SKCA-BR 5 175875282 175875282 single base substitution T G intron_variant SKCA-BR 5 175875282 175875282 single base substitution T G upstream_gene_variant SKCA-BR 5 175875504 175875504 single base substitution C T intron_variant SKCA-BR 5 175875504 175875504 single base substitution C T upstream_gene_variant SKCA-BR 5 175877557 175877557 insertion of <=200bp - CT intron_variant SKCA-BR 5 175877557 175877557 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 5 175878840 175878844 deletion of <=200bp TATAC - intron_variant SKCA-BR 5 175878840 175878844 deletion of <=200bp TATAC - upstream_gene_variant SKCA-BR 5 175879993 175879993 single base substitution T C intron_variant SKCA-BR 5 175879993 175879993 single base substitution T C upstream_gene_variant SKCA-BR 5 175884435 175884435 single base substitution A C downstream_gene_variant SKCA-BR 5 175884435 175884435 single base substitution A C intron_variant SKCA-BR 5 175885641 175885641 single base substitution G A intron_variant SKCA-BR 5 175886251 175886251 insertion of <=200bp - CT intron_variant SKCA-BR 5 175886369 175886369 single base substitution C T intron_variant SKCA-BR 5 175898685 175898686 deletion of <=200bp CT - intron_variant SKCA-BR 5 175904731 175904731 single base substitution C T intron_variant SKCA-BR 5 175909172 175909172 single base substitution C T intron_variant SKCA-BR 5 175909896 175909902 deletion of <=200bp TTTGTTG - intron_variant SKCA-BR 5 175910360 175910360 single base substitution C T intron_variant SKCA-BR 5 175917470 175917470 single base substitution G T downstream_gene_variant SKCA-BR 5 175917470 175917470 single base substitution G T intron_variant SKCA-BR 5 175917470 175917470 single base substitution G T upstream_gene_variant SKCA-BR 5 175919849 175919849 single base substitution C T downstream_gene_variant SKCA-BR 5 175919849 175919849 single base substitution C T intron_variant SKCA-BR 5 175919849 175919849 single base substitution C T upstream_gene_variant SKCA-BR 5 175923620 175923620 single base substitution C T exon_variant SKCA-BR 5 175923620 175923620 single base substitution C T synonymous_variant I265I 795C>T SKCA-BR 5 175927907 175927907 single base substitution C T downstream_gene_variant SKCA-BR 5 175927907 175927907 single base substitution C T intron_variant SKCA-BR 5 175928977 175928977 single base substitution C T downstream_gene_variant SKCA-BR 5 175928977 175928977 single base substitution C T intron_variant SKCA-BR 5 175930268 175930268 single base substitution T C downstream_gene_variant SKCA-BR 5 175930268 175930268 single base substitution T C intron_variant SKCA-BR 5 175930556 175930557 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 5 175930556 175930557 deletion of <=200bp CA - intron_variant SKCA-BR 5 175933208 175933208 single base substitution C A intron_variant SKCM-US 5 175919263 175919263 single base substitution C T downstream_gene_variant SKCM-US 5 175919263 175919263 single base substitution C T exon_variant SKCM-US 5 175919263 175919263 single base substitution C T missense_variant S138L 413C>T SKCM-US 5 175919263 175919263 single base substitution C T upstream_gene_variant SKCM-US 5 175921194 175921194 single base substitution C T exon_variant SKCM-US 5 175921194 175921194 single base substitution C T synonymous_variant L193L 579C>T SKCM-US 5 175921237 175921237 single base substitution T A exon_variant SKCM-US 5 175921237 175921237 single base substitution T A missense_variant F208I 622T>A SKCM-US 5 175923636 175923636 single base substitution A G exon_variant SKCM-US 5 175923636 175923636 single base substitution A G missense_variant T271A 811A>G SKCM-US 5 175927043 175927043 single base substitution C T downstream_gene_variant SKCM-US 5 175927043 175927043 single base substitution C T missense_variant P351S 1051C>T SKCM-US 5 175927084 175927084 single base substitution C G downstream_gene_variant SKCM-US 5 175927084 175927084 single base substitution C G missense_variant I364M 1092C>G STAD-US 5 175916030 175916030 single base substitution T G downstream_gene_variant STAD-US 5 175916030 175916030 single base substitution T G splice_donor_variant STAD-US 5 175916030 175916030 single base substitution T G upstream_gene_variant STAD-US 5 175919205 175919205 single base substitution C T downstream_gene_variant STAD-US 5 175919205 175919205 single base substitution C T missense_variant R119C 355C>T STAD-US 5 175919205 175919205 single base substitution C T upstream_gene_variant STAD-US 5 175919208 175919208 single base substitution T G downstream_gene_variant STAD-US 5 175919208 175919208 single base substitution T G missense_variant F120V 358T>G STAD-US 5 175919208 175919208 single base substitution T G upstream_gene_variant STAD-US 5 175919216 175919216 single base substitution G A downstream_gene_variant STAD-US 5 175919216 175919216 single base substitution G A synonymous_variant R122R 366G>A STAD-US 5 175919216 175919216 single base substitution G A upstream_gene_variant STAD-US 5 175923649 175923649 single base substitution C T exon_variant STAD-US 5 175923649 175923649 single base substitution C T missense_variant S275L 824C>T STAD-US 5 175933771 175933771 single base substitution A G splice_region_variant STAD-US 5 175933891 175933910 deletion of <=200bp ACAGGAGGCCGGACTCAGCC - frameshift_variant LQEAGLSH426 UCEC-US 5 175875441 175875441 single base substitution G T exon_variant UCEC-US 5 175875441 175875441 single base substitution G T intron_variant UCEC-US 5 175875441 175875441 single base substitution G T missense_variant Q11H 33G>T UCEC-US 5 175875441 175875441 single base substitution G T upstream_gene_variant UCEC-US 5 175919247 175919247 single base substitution G A downstream_gene_variant UCEC-US 5 175919247 175919247 single base substitution G A exon_variant UCEC-US 5 175919247 175919247 single base substitution G A missense_variant V133I 397G>A UCEC-US 5 175919247 175919247 single base substitution G A upstream_gene_variant UCEC-US 5 175926018 175926018 single base substitution C T downstream_gene_variant UCEC-US 5 175926018 175926018 single base substitution C T missense_variant R315W 943C>T UCEC-US 5 175927107 175927107 single base substitution C A downstream_gene_variant UCEC-US 5 175927107 175927107 single base substitution C A missense_variant S372Y 1115C>A UCEC-US 5 175927110 175927110 single base substitution G A downstream_gene_variant UCEC-US 5 175927110 175927110 single base substitution G A missense_variant R373Q 1118G>A UCEC-US 5 175927122 175927122 single base substitution G A downstream_gene_variant UCEC-US 5 175927122 175927122 single base substitution G A missense_variant R377Q 1130G>A UCEC-US 5 175933835 175933835 single base substitution C T missense_variant P408S 1222C>T UCEC-US 5 175933841 175933841 single base substitution C T stop_gained R410* 1228C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_107 COSM5638549 c.133G>A p.A45T Substitution - Missense 5:176486355-176486355 + CSCC-52-T COSM4462401 c.1245C>T p.I415I Substitution - coding silent 5:176506857-176506857 + SJBALL020625_D1 COSM4993806 c.949C>T p.R317C Substitution - Missense 5:176499023-176499023 + TCGA-A3-3372-01 COSM1496043 c.751G>A p.G251S Substitution - Missense 5:176496575-176496575 + tumor_4189998 COSM1161534 c.679G>A p.E227K Substitution - Missense 5:176496503-176496503 + 8034252 COSM4407719 c.974T>G p.V325G Substitution - Missense 5:176499048-176499048 + T3152 COSM4682299 c.1288G>A p.G430R Substitution - Missense 5:176506900-176506900 + HCC2998 COSM1672138 c.1085T>C p.V362A Substitution - Missense 5:176500076-176500076 + CRC-02T COSM5455382 c.18G>C p.E6D Substitution - Missense 5:176448425-176448425 + TCGA-AM-5820-01 COSM3697150 c.930G>A p.K310K Substitution - coding silent 5:176499004-176499004 + YUPAER COSM5403120 c.1224C>T p.P408P Substitution - coding silent 5:176506836-176506836 + ESCC_130 COSM5642112 c.345-1G>T p.? Unknown 5:176492193-176492193 + cSCCP4 COSM138532 c.1309C>T p.L437F Substitution - Missense 5:176506921-176506921 + TCGA-AP-A059-01 COSM1066030 c.1222C>T p.P408S Substitution - Missense 5:176506834-176506834 + LIM1215 COSM4347041 c.950G>A p.R317H Substitution - Missense 5:176499024-176499024 + 587358 COSM1205988 c.1274C>T p.T425M Substitution - Missense 5:176506886-176506886 + TCGA-EE-A2M7-06 COSM3614323 c.1092C>G p.I364M Substitution - Missense 5:176500083-176500083 + CSCC-30-T COSM4474756 c.193C>T p.P65S Substitution - Missense 5:176486415-176486415 + TCGA-B5-A11R-01 COSM1066026 c.943C>T p.R315W Substitution - Missense 5:176499017-176499017 + T407 COSM4682298 c.383G>A p.R128Q Substitution - Missense 5:176492232-176492232 + 33 COSM5733373 c.110A>G p.E37G Substitution - Missense 5:176479234-176479234 + TCGA-04-1348-01 COSM74572 c.614G>A p.R205K Substitution - Missense 5:176494228-176494228 + T3503 COSM4682297 c.133-2A>G p.? Unknown 5:176486353-176486353 + HCC2998 COSM1672138 c.1085T>C p.V362A Substitution - Missense 5:176500076-176500076 + TCGA-22-5477-01 COSM737653 c.1289G>C p.G430A Substitution - Missense 5:176506901-176506901 + TCGA-D7-8572-01 COSM3853836 c.358T>G p.F120V Substitution - Missense 5:176492207-176492207 + CHEWS001 COSM4585713 c.504G>A p.R168R Substitution - coding silent 5:176494019-176494019 + SC_9076 COSM5559918 c.205C>G p.L69V Substitution - Missense 5:176486427-176486427 + GCT27 COSM5749381 c.922G>A p.E308K Substitution - Missense 5:176498996-176498996 + 399 COSM4429278 c.133-3C>T p.? Unknown 5:176486352-176486352 + TCGA-BR-4184-01 COSM3853837 c.366G>A p.R122R Substitution - coding silent 5:176492215-176492215 + LUAD-RT-S01771 COSM381215 c.1055C>T p.P352L Substitution - Missense 5:176500046-176500046 + CADO-ES1 COSM3340353 c.915G>A p.Q305Q Substitution - coding silent 5:176498989-176498989 + HCC82T COSM1620075 c.1275G>A p.T425T Substitution - coding silent 5:176506887-176506887 + HCC019T COSM5820414 c.1194A>G p.P398P Substitution - coding silent 5:176506806-176506806 + BD124T COSM5491974 c.1310_1311insT p.V439fs*6 Insertion - Frameshift 5:176506922-176506923 + 587222 COSM1205987 c.1170C>A p.F390L Substitution - Missense 5:176506782-176506782 + SJHGG102_D COSM208227 c.512G>A p.R171H Substitution - Missense 5:176494027-176494027 + TCGA-AO-A03M-01 COSM3827722 c.13G>C p.E5Q Substitution - Missense 5:176448420-176448420 + HCC116T COSM5807135 c.602T>G p.L201R Substitution - Missense 5:176494216-176494216 + TCGA-EE-A2M7-06 COSM3614322 c.1051C>T p.P351S Substitution - Missense 5:176500042-176500042 + TCGA-CD-A4MG-01 COSM3853835 c.355C>T p.R119C Substitution - Missense 5:176492204-176492204 + PT48 COSM5931635 c.83C>T p.S28F Substitution - Missense 5:176479207-176479207 + TCGA-AP-A059-01 COSM1066029 c.1130G>A p.R377Q Substitution - Missense 5:176500121-176500121 + TCGA-CG-5723-01 COSM3853839 c.1158A>G p.V386V Substitution - coding silent 5:176506770-176506770 + PD6731a2 COSM5779007 c.1078G>A p.E360K Substitution - Missense 5:176500069-176500069 + TCGA-BR-8297-01 COSM3853834 c.344+2T>G p.? Unknown 5:176489029-176489029 + TCGA-D9-A6EC-06 COSM4403111 c.811A>G p.T271A Substitution - Missense 5:176496635-176496635 + sysucc-311T COSM5466394 c.1140T>G p.F380L Substitution - Missense 5:176500131-176500131 + N-Thy008 COSM1205988 c.1274C>T p.T425M Substitution - Missense 5:176506886-176506886 + PDA_055 COSM5000891 c.979C>A p.Q327K Substitution - Missense 5:176499053-176499053 + LIM2551 COSM4644659 c.168C>T p.G56G Substitution - coding silent 5:176486390-176486390 + TCGA-B5-A11E-01 COSM1066028 c.1118G>A p.R373Q Substitution - Missense 5:176500109-176500109 + PT55 COSM1066030 c.1222C>T p.P408S Substitution - Missense 5:176506834-176506834 + AOCS-141-8-0 COSM4422329 c.1119A>T p.R373R Substitution - coding silent 5:176500110-176500110 + TCGA-BS-A0UV-01 COSM1066027 c.1115C>A p.S372Y Substitution - Missense 5:176500106-176500106 + TCGA-B5-A11E-01 COSM1066031 c.1228C>T p.R410* Substitution - Nonsense 5:176506840-176506840 + TCGA-AX-A0J1-01 COSM1066031 c.1228C>T p.R410* Substitution - Nonsense 5:176506840-176506840 + CSCC-30-T COSM4457505 c.1048C>T p.L350L Substitution - coding silent 5:176500039-176500039 + TCGA-BH-A18G-01 COSM3827723 c.344G>T p.R115M Substitution - Missense 5:176489027-176489027 + TCGA-CM-5861-01 COSM1436149 c.613A>G p.R205G Substitution - Missense 5:176494227-176494227 + TCGA-EE-A2M5-06 COSM3614320 c.579C>T p.L193L Substitution - coding silent 5:176494193-176494193 + TCGA-EJ-8472-01 COSM3783893 c.1288G>T p.G430* Substitution - Nonsense 5:176506900-176506900 + 587376 COSM1205989 c.1165G>A p.D389N Substitution - Missense 5:176506777-176506777 + TCGA-CA-6717-01 COSM1436147 c.79G>A p.E27K Substitution - Missense 5:176479203-176479203 + CCK81 COSM3340355 c.944G>A p.R315Q Substitution - Missense 5:176499018-176499018 + HCC82 COSM1620075 c.1275G>A p.T425T Substitution - coding silent 5:176506887-176506887 + TCGA-D1-A16Y-01 COSM1066025 c.397G>A p.V133I Substitution - Missense 5:176492246-176492246 + RK052_C01 COSM1634157 c.527A>G p.Y176C Substitution - Missense 5:176494042-176494042 + TCGA-DM-A28F-01 COSM1436150 c.1156-2A>T p.? Unknown 5:176506766-176506766 + TCGA-BT-A20R-01 COSM1310991 c.550G>T p.D184Y Substitution - Missense 5:176494065-176494065 + ESCC_32 COSM5628132 c.61C>G p.Q21E Substitution - Missense 5:176448468-176448468 + TCGA-EE-A2MJ-06 COSM3614321 c.622T>A p.F208I Substitution - Missense 5:176494236-176494236 + LUAD-B00523 COSM332072 c.380G>T p.S127I Substitution - Missense 5:176492229-176492229 + TCGA-EE-A3AC-06 COSM3614319 c.413C>T p.S138L Substitution - Missense 5:176492262-176492262 + RK147_C01 COSM1634158 c.916G>T p.E306* Substitution - Nonsense 5:176498990-176498990 + ESCC_68 COSM5634010 c.1333G>A p.E445K Substitution - Missense 5:176506945-176506945 + 2293776 COSM4607902 c.722G>T p.R241L Substitution - Missense 5:176496546-176496546 + CSCC-10-T COSM4463008 c.1270C>T p.P424S Substitution - Missense 5:176506882-176506882 + TCGA-A6-6649-01 COSM1436148 c.228C>T p.H76H Substitution - coding silent 5:176486450-176486450 + RK272_C01 COSM1634157 c.527A>G p.Y176C Substitution - Missense 5:176494042-176494042 + TCGA-C5-A1MH-01 COSM4821045 c.130G>C p.E44Q Substitution - Missense 5:176479254-176479254 + TCGA-CG-4442-01 COSM3853838 c.824C>T p.S275L Substitution - Missense 5:176496648-176496648 + PAPNNX COSM3340341 c.98G>A p.R33H Substitution - Missense 5:176479222-176479222 + TCGA-A1-A0SJ-01 COSM449358 c.55C>A p.Q19K Substitution - Missense 5:176448462-176448462 + TCGA-BS-A0UV-01 COSM1066024 c.33G>T p.Q11H Substitution - Missense 5:176448440-176448440 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.484242 5q35.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.63+4672A>G 5 175880143 HC A G Missense p.M235V c.703A>G 5 175923528 LUAD C A Missense p.Q19K c.55C>A 5 175875463 BRCA C A Synonymous p.L207L c.621C>A 5 175921236 CM C - Frameshift p.S212Lfs*24 c.633delC 5 175921248 THCA C G Missense p.I364M c.1092C>G 5 175927084 CM C T IntronicSNV . c.839+215C>T 5 175923879 CM C T Missense p.P351S c.1051C>T 5 175927043 CM C T Missense p.P88L c.263C>T 5 175913486 HNSC C T Missense p.R315W c.943C>T 5 175926018 UCEC C T Missense p.S138L c.413C>T 5 175919263 CM C T Synonymous p.L193L c.579C>T 5 175921194 CM G A Missense p.E227K c.679G>A 5 175923504 DLBCL G A Missense p.R205K c.614G>A 5 175921229 OV G A Missense p.V133I c.397G>A 5 175919247 UCEC G A Missense p.V82I c.244G>A 5 175913467 HNSC G A Synonymous p.G148G c.444G>A 5 175919294 LUAD G C Missense p.G430A c.1289G>C 5 175933902 LUSC G T Missense p.D184Y c.550G>T 5 175921066 BLCA G T Missense p.R226L c.677G>T 5 175923502 STAD T A Missense p.F208I c.622T>A 5 175921237 CM T C Missense p.F208L c.622T>C 5 175921237 CM