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 17 20907528 20907528 + Silent SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr17:20907528G>A c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L BLCA 17 20910273 20910273 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr17:20910273G>A c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W BLCA 17 20916184 20916184 + Silent SNP G G A TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr17:20916184G>A c.903C>T c.(901-903)ttC>ttT p.F301F BLCA 17 20919102 20919102 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:20919102G>C c.801C>G c.(799-801)ctC>ctG p.L267L BLCA 17 20931928 20931928 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr17:20931928G>C c.231C>G c.(229-231)ctC>ctG p.L77L BRCA 17 20919169 20919169 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr17:20919169A>G c.734T>C c.(733-735)cTg>cCg p.L245P BRCA 17 20921316 20921316 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr17:20921316C>T c.629G>A c.(628-630)cGc>cAc p.R210H BRCA 17 20921322 20921322 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr17:20921322C>T c.623G>A c.(622-624)aGg>aAg p.R208K CESC 17 20919105 20919105 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr17:20919105G>A c.798C>T c.(796-798)ttC>ttT p.F266F CESC 17 20919144 20919144 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr17:20919144C>T c.759G>A c.(757-759)agG>agA p.R253R COAD 17 20908273 20908273 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:20908273C>T c.1353G>A c.(1351-1353)caG>caA p.Q451Q COAD 17 20910275 20910275 + Missense_Mutation SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:20910275C>T c.1256G>A c.(1255-1257)cGg>cAg p.R419Q COAD 17 20919098 20919098 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:20919098C>T c.805G>A c.(805-807)Gcg>Acg p.A269T COAD 17 20921317 20921317 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:20921317G>A c.628C>T c.(628-630)Cgc>Tgc p.R210C COAD 17 20922488 20922488 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:20922488C>A c.429G>T c.(427-429)gaG>gaT p.E143D COAD 17 20924446 20924446 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:20924446C>T c.398G>A c.(397-399)cGa>cAa p.R133Q COAD 17 20931957 20931957 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:20931957C>T c.202G>A c.(202-204)Gtc>Atc p.V68I COADREAD 17 20908273 20908273 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:20908273C>T c.1353G>A c.(1351-1353)caG>caA p.Q451Q COADREAD 17 20910275 20910275 + Missense_Mutation SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:20910275C>T c.1256G>A c.(1255-1257)cGg>cAg p.R419Q COADREAD 17 20919098 20919098 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:20919098C>T c.805G>A c.(805-807)Gcg>Acg p.A269T COADREAD 17 20921317 20921317 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:20921317G>A c.628C>T c.(628-630)Cgc>Tgc p.R210C COADREAD 17 20922488 20922488 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:20922488C>A c.429G>T c.(427-429)gaG>gaT p.E143D COADREAD 17 20924446 20924446 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:20924446C>T c.398G>A c.(397-399)cGa>cAa p.R133Q COADREAD 17 20931957 20931957 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:20931957C>T c.202G>A c.(202-204)Gtc>Atc p.V68I ESCA 17 20914527 20914527 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:20914527C>T c.1040G>A c.(1039-1041)gGc>gAc p.G347D ESCA 17 20916228 20916228 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr17:20916228C>T c.859G>A c.(859-861)Gcc>Acc p.A287T GBM 17 20924447 20924447 + Silent SNP G G T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr17:20924447G>T c.397C>A c.(397-399)Cga>Aga p.R133R GBM 17 20931977 20931977 + Missense_Mutation SNP C C T TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr17:20931977C>T c.182G>A c.(181-183)tGt>tAt p.C61Y GBMLGG 17 20922431 20922431 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:20922431C>T c.486G>A c.(484-486)ccG>ccA p.P162P GBMLGG 17 20924447 20924447 + Silent SNP G G T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr17:20924447G>T c.397C>A c.(397-399)Cga>Aga p.R133R GBMLGG 17 20931977 20931977 + Missense_Mutation SNP C C T TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr17:20931977C>T c.182G>A c.(181-183)tGt>tAt p.C61Y HNSC 17 20911202 20911202 + Missense_Mutation SNP A A G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:20911202A>G c.1211T>C c.(1210-1212)gTa>gCa p.V404A HNSC 17 20911270 20911270 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 g.chr17:20911270G>C c.1143C>G c.(1141-1143)atC>atG p.I381M HNSC 17 20921341 20921341 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:20921341C>A c.604G>T c.(604-606)Gac>Tac p.D202Y HNSC 17 20924462 20924462 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr17:20924462C>T c.382G>A c.(382-384)Gcc>Acc p.A128T KIPAN 17 20911265 20911265 + Missense_Mutation SNP C C T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr17:20911265C>T c.1148G>A c.(1147-1149)tGc>tAc p.C383Y KIPAN 17 20931913 20931913 + Silent SNP G G A TCGA-A3-3323-01A-01D-0966-08 TCGA-A3-3323-11A-01D-0966-08 g.chr17:20931913G>A c.246C>T c.(244-246)ttC>ttT p.F82F KIRC 17 20911265 20911265 + Missense_Mutation SNP C C T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr17:20911265C>T c.1148G>A c.(1147-1149)tGc>tAc p.C383Y KIRC 17 20931913 20931913 + Silent SNP G G A TCGA-A3-3323-01A-01D-0966-08 TCGA-A3-3323-11A-01D-0966-08 g.chr17:20931913G>A c.246C>T c.(244-246)ttC>ttT p.F82F LGG 17 20922431 20922431 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:20922431C>T c.486G>A c.(484-486)ccG>ccA p.P162P LIHC 17 20908264 20908264 + Silent SNP C C T TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr17:20908264C>T c.1362G>A c.(1360-1362)acG>acA p.T454T LIHC 17 20914512 20914512 + Missense_Mutation SNP C C A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr17:20914512C>A c.1055G>T c.(1054-1056)gGg>gTg p.G352V LIHC 17 20919117 20919117 + Silent SNP G G A TCGA-DD-AACM-01A-11D-A40R-10 TCGA-DD-AACM-10A-01D-A40U-10 g.chr17:20919117G>A c.786C>T c.(784-786)gaC>gaT p.D262D LIHC 17 20919135 20919135 + Silent SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:20919135T>A c.768A>T c.(766-768)gcA>gcT p.A256A LIHC 17 20921295 20921295 + Missense_Mutation SNP C C T TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr17:20921295C>T c.650G>A c.(649-651)aGc>aAc p.S217N LIHC 17 20924519 20924519 + Missense_Mutation SNP C C T TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr17:20924519C>T c.325G>A c.(325-327)Ggc>Agc p.G109S LUAD 17 20922486 20922486 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr17:20922486T>C c.431A>G c.(430-432)aAg>aGg p.K144R LUSC 17 20907656 20907657 + Frame_Shift_Del DEL AG AG - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr17:20907656_20907657delAG c.1393_1394delCT c.(1393-1395)ctgfs p.L465fs LUSC 17 20922416 20922416 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr17:20922416G>A c.501C>T c.(499-501)atC>atT p.I167I OV 17 20914546 20914547 + Frame_Shift_Del DEL GG GG - TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 g.chr17:20914546_20914547delGG c.1020_1021delCC c.(1018-1023)cccctgfs p.L341fs PRAD 17 20910262 20910262 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 g.chr17:20910262G>A c.1269C>T c.(1267-1269)acC>acT p.T423T PRAD 17 20922442 20922442 + Nonsense_Mutation SNP T T A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 g.chr17:20922442T>A c.475A>T c.(475-477)Aag>Tag p.K159* PRAD 17 20924447 20924447 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:20924447G>A c.397C>T c.(397-399)Cga>Tga p.R133* SKCM 17 20907598 20907598 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:20907598G>A c.1452C>T c.(1450-1452)atC>atT p.I484I SKCM 17 20914557 20914557 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr17:20914557G>A c.1010C>T c.(1009-1011)cCa>cTa p.P337L SKCM 17 20921333 20921333 + Silent SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr17:20921333G>A c.612C>T c.(610-612)ttC>ttT p.F204F SKCM 17 20921375 20921375 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:20921375G>A c.570C>T c.(568-570)atC>atT p.I190I SKCM 17 20921418 20921418 + Missense_Mutation SNP C C A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr17:20921418C>A c.527G>T c.(526-528)cGt>cTt p.R176L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 17 20919124 20919124 single base substitution T C 3_prime_UTR_variant AML-US 17 20919124 20919124 single base substitution T C downstream_gene_variant AML-US 17 20919124 20919124 single base substitution T C exon_variant AML-US 17 20919124 20919124 single base substitution T C intron_variant AML-US 17 20919124 20919124 single base substitution T C missense_variant Q248R 743A>G AML-US 17 20919124 20919124 single base substitution T C missense_variant Q260R 779A>G AML-US 17 20919124 20919124 single base substitution T C upstream_gene_variant BLCA-CN 17 20911296 20911296 single base substitution C A 3_prime_UTR_variant BLCA-CN 17 20911296 20911296 single base substitution C A downstream_gene_variant BLCA-CN 17 20911296 20911296 single base substitution C A exon_variant BLCA-CN 17 20911296 20911296 single base substitution C A intron_variant BLCA-CN 17 20911296 20911296 single base substitution C A stop_gained E361* 1081G>T BLCA-CN 17 20911296 20911296 single base substitution C A stop_gained E373* 1117G>T BLCA-CN 17 20911296 20911296 single base substitution C A upstream_gene_variant BRCA-EU 17 20902741 20902741 single base substitution C T downstream_gene_variant BRCA-EU 17 20902942 20902942 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 20902942 20902942 single base substitution G C downstream_gene_variant BRCA-EU 17 20902958 20902958 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 17 20902958 20902958 deletion of <=200bp G - downstream_gene_variant BRCA-EU 17 20903912 20903912 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 20903912 20903912 single base substitution G A downstream_gene_variant BRCA-EU 17 20905752 20905752 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 20905752 20905752 single base substitution T C downstream_gene_variant BRCA-EU 17 20905752 20905752 single base substitution T C exon_variant BRCA-EU 17 20908224 20908224 single base substitution C T downstream_gene_variant BRCA-EU 17 20908224 20908224 single base substitution C T intron_variant BRCA-EU 17 20908353 20908353 single base substitution G C downstream_gene_variant BRCA-EU 17 20908353 20908353 single base substitution G C exon_variant BRCA-EU 17 20908353 20908353 single base substitution G C intron_variant BRCA-EU 17 20909035 20909035 single base substitution T G downstream_gene_variant BRCA-EU 17 20909035 20909035 single base substitution T G intron_variant BRCA-EU 17 20909035 20909035 single base substitution T G upstream_gene_variant BRCA-EU 17 20910037 20910037 single base substitution C T downstream_gene_variant BRCA-EU 17 20910037 20910037 single base substitution C T exon_variant BRCA-EU 17 20910037 20910037 single base substitution C T intron_variant BRCA-EU 17 20910037 20910037 single base substitution C T upstream_gene_variant BRCA-EU 17 20910889 20910889 single base substitution G T downstream_gene_variant BRCA-EU 17 20910889 20910889 single base substitution G T intron_variant BRCA-EU 17 20910889 20910889 single base substitution G T upstream_gene_variant BRCA-EU 17 20911366 20911366 single base substitution G A downstream_gene_variant BRCA-EU 17 20911366 20911366 single base substitution G A intron_variant BRCA-EU 17 20911366 20911366 single base substitution G A upstream_gene_variant BRCA-EU 17 20913184 20913184 single base substitution C T downstream_gene_variant BRCA-EU 17 20913184 20913184 single base substitution C T intron_variant BRCA-EU 17 20913184 20913184 single base substitution C T upstream_gene_variant BRCA-EU 17 20913283 20913283 single base substitution A T downstream_gene_variant BRCA-EU 17 20913283 20913283 single base substitution A T intron_variant BRCA-EU 17 20913283 20913283 single base substitution A T upstream_gene_variant BRCA-EU 17 20914562 20914562 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 20914562 20914562 single base substitution G T downstream_gene_variant BRCA-EU 17 20914562 20914562 single base substitution G T exon_variant BRCA-EU 17 20914562 20914562 single base substitution G T intron_variant BRCA-EU 17 20914562 20914562 single base substitution G T missense_variant H96N 286C>A BRCA-EU 17 20914562 20914562 single base substitution G T synonymous_variant S323S 969C>A BRCA-EU 17 20914562 20914562 single base substitution G T synonymous_variant S335S 1005C>A BRCA-EU 17 20915907 20915907 single base substitution G C downstream_gene_variant BRCA-EU 17 20915907 20915907 single base substitution G C intron_variant BRCA-EU 17 20915907 20915907 single base substitution G C upstream_gene_variant BRCA-EU 17 20916561 20916564 deletion of <=200bp TGAC - downstream_gene_variant BRCA-EU 17 20916561 20916564 deletion of <=200bp TGAC - intron_variant BRCA-EU 17 20916561 20916564 deletion of <=200bp TGAC - upstream_gene_variant BRCA-EU 17 20919130 20919130 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 20919130 20919130 single base substitution T C downstream_gene_variant BRCA-EU 17 20919130 20919130 single base substitution T C exon_variant BRCA-EU 17 20919130 20919130 single base substitution T C intron_variant BRCA-EU 17 20919130 20919130 single base substitution T C missense_variant Y246C 737A>G BRCA-EU 17 20919130 20919130 single base substitution T C missense_variant Y258C 773A>G BRCA-EU 17 20919130 20919130 single base substitution T C upstream_gene_variant BRCA-EU 17 20919823 20919823 single base substitution A C downstream_gene_variant BRCA-EU 17 20919823 20919823 single base substitution A C intron_variant BRCA-EU 17 20919823 20919823 single base substitution A C upstream_gene_variant BRCA-EU 17 20920038 20920038 single base substitution G A downstream_gene_variant BRCA-EU 17 20920038 20920038 single base substitution G A intron_variant BRCA-EU 17 20920784 20920784 single base substitution A C downstream_gene_variant BRCA-EU 17 20920784 20920784 single base substitution A C intron_variant BRCA-EU 17 20922023 20922023 deletion of <=200bp G - intron_variant BRCA-EU 17 20922023 20922023 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 20922152 20922152 insertion of <=200bp - A intron_variant BRCA-EU 17 20922152 20922152 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 20922164 20922164 single base substitution G A intron_variant BRCA-EU 17 20922164 20922164 single base substitution G A upstream_gene_variant BRCA-EU 17 20923437 20923437 single base substitution A G intron_variant BRCA-EU 17 20923437 20923437 single base substitution A G upstream_gene_variant BRCA-EU 17 20923452 20923452 single base substitution G C intron_variant BRCA-EU 17 20923452 20923452 single base substitution G C upstream_gene_variant BRCA-EU 17 20923463 20923463 single base substitution G C intron_variant BRCA-EU 17 20923463 20923463 single base substitution G C upstream_gene_variant BRCA-EU 17 20924343 20924345 deletion of <=200bp CTT - intron_variant BRCA-EU 17 20924343 20924345 deletion of <=200bp CTT - upstream_gene_variant BRCA-EU 17 20927392 20927392 single base substitution A C intron_variant BRCA-EU 17 20927392 20927392 single base substitution A C upstream_gene_variant BRCA-EU 17 20930259 20930259 single base substitution C T intron_variant BRCA-EU 17 20930549 20930549 single base substitution C A intron_variant BRCA-EU 17 20931121 20931121 deletion of <=200bp A - intron_variant BRCA-EU 17 20932224 20932224 single base substitution C G intron_variant BRCA-EU 17 20932584 20932584 single base substitution C A intron_variant BRCA-EU 17 20934048 20934048 single base substitution G T intron_variant BRCA-EU 17 20935357 20935357 single base substitution C T intron_variant BRCA-EU 17 20935371 20935371 single base substitution T C intron_variant BRCA-EU 17 20935379 20935379 single base substitution C G intron_variant BRCA-EU 17 20936042 20936042 single base substitution A G intron_variant BRCA-EU 17 20937345 20937345 single base substitution A C intron_variant BRCA-EU 17 20938756 20938756 single base substitution G C intron_variant BRCA-EU 17 20939988 20939988 deletion of <=200bp G - intron_variant BRCA-EU 17 20941373 20941373 single base substitution G C intron_variant BRCA-EU 17 20941849 20941849 single base substitution C T intron_variant BRCA-EU 17 20941956 20941956 single base substitution G A intron_variant BRCA-EU 17 20942953 20942953 single base substitution G T intron_variant BRCA-EU 17 20944622 20944622 insertion of <=200bp - G intron_variant BRCA-EU 17 20946399 20946399 single base substitution G A intron_variant BRCA-EU 17 20946399 20946399 single base substitution G A upstream_gene_variant BRCA-EU 17 20946557 20946557 deletion of <=200bp G - intron_variant BRCA-EU 17 20946557 20946557 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 20948620 20948620 single base substitution C A upstream_gene_variant BRCA-EU 17 20949004 20949004 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 20951279 20951279 single base substitution C T upstream_gene_variant BRCA-EU 17 20951570 20951570 single base substitution C T upstream_gene_variant BRCA-FR 17 20900186 20900186 single base substitution C G downstream_gene_variant BRCA-FR 17 20908353 20908353 single base substitution G C downstream_gene_variant BRCA-FR 17 20908353 20908353 single base substitution G C exon_variant BRCA-FR 17 20908353 20908353 single base substitution G C intron_variant BRCA-FR 17 20911366 20911366 single base substitution G A downstream_gene_variant BRCA-FR 17 20911366 20911366 single base substitution G A intron_variant BRCA-FR 17 20911366 20911366 single base substitution G A upstream_gene_variant BRCA-FR 17 20913192 20913192 single base substitution T C downstream_gene_variant BRCA-FR 17 20913192 20913192 single base substitution T C intron_variant BRCA-FR 17 20913192 20913192 single base substitution T C upstream_gene_variant BRCA-FR 17 20919823 20919823 single base substitution A C downstream_gene_variant BRCA-FR 17 20919823 20919823 single base substitution A C intron_variant BRCA-FR 17 20919823 20919823 single base substitution A C upstream_gene_variant BRCA-FR 17 20920038 20920038 single base substitution G A downstream_gene_variant BRCA-FR 17 20920038 20920038 single base substitution G A intron_variant BRCA-FR 17 20922164 20922164 single base substitution G A intron_variant BRCA-FR 17 20922164 20922164 single base substitution G A upstream_gene_variant BRCA-FR 17 20923463 20923463 single base substitution G C intron_variant BRCA-FR 17 20923463 20923463 single base substitution G C upstream_gene_variant BRCA-FR 17 20951279 20951279 single base substitution C T upstream_gene_variant BRCA-UK 17 20900061 20900061 single base substitution C T downstream_gene_variant BRCA-UK 17 20929121 20929121 single base substitution G C intron_variant BRCA-UK 17 20929121 20929121 single base substitution G C upstream_gene_variant BRCA-US 17 20919169 20919169 single base substitution A G 3_prime_UTR_variant BRCA-US 17 20919169 20919169 single base substitution A G downstream_gene_variant BRCA-US 17 20919169 20919169 single base substitution A G exon_variant BRCA-US 17 20919169 20919169 single base substitution A G intron_variant BRCA-US 17 20919169 20919169 single base substitution A G missense_variant L233P 698T>C BRCA-US 17 20919169 20919169 single base substitution A G missense_variant L245P 734T>C BRCA-US 17 20919169 20919169 single base substitution A G upstream_gene_variant BRCA-US 17 20921316 20921316 single base substitution C T 3_prime_UTR_variant BRCA-US 17 20921316 20921316 single base substitution C T exon_variant BRCA-US 17 20921316 20921316 single base substitution C T intron_variant BRCA-US 17 20921316 20921316 single base substitution C T missense_variant R105H 314G>A BRCA-US 17 20921316 20921316 single base substitution C T missense_variant R198H 593G>A BRCA-US 17 20921316 20921316 single base substitution C T missense_variant R210H 629G>A BRCA-US 17 20921316 20921316 single base substitution C T missense_variant R55H 164G>A BRCA-US 17 20921322 20921322 single base substitution C T 3_prime_UTR_variant BRCA-US 17 20921322 20921322 single base substitution C T exon_variant BRCA-US 17 20921322 20921322 single base substitution C T intron_variant BRCA-US 17 20921322 20921322 single base substitution C T missense_variant R103K 308G>A BRCA-US 17 20921322 20921322 single base substitution C T missense_variant R196K 587G>A BRCA-US 17 20921322 20921322 single base substitution C T missense_variant R208K 623G>A BRCA-US 17 20921322 20921322 single base substitution C T missense_variant R53K 158G>A BTCA-JP 17 20907641 20907641 single base substitution T A 3_prime_UTR_variant BTCA-JP 17 20907641 20907641 single base substitution T A downstream_gene_variant BTCA-JP 17 20907641 20907641 single base substitution T A exon_variant BTCA-JP 17 20907641 20907641 single base substitution T A intron_variant BTCA-JP 17 20907641 20907641 single base substitution T A missense_variant N458I 1373A>T BTCA-JP 17 20907641 20907641 single base substitution T A missense_variant N470I 1409A>T BTCA-JP 17 20921355 20921355 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 20921355 20921355 single base substitution G A exon_variant BTCA-JP 17 20921355 20921355 single base substitution G A intron_variant BTCA-JP 17 20921355 20921355 single base substitution G A missense_variant T185M 554C>T BTCA-JP 17 20921355 20921355 single base substitution G A missense_variant T197M 590C>T BTCA-JP 17 20921355 20921355 single base substitution G A missense_variant T42M 125C>T BTCA-JP 17 20921355 20921355 single base substitution G A missense_variant T92M 275C>T BTCA-JP 17 20922484 20922484 single base substitution A T 3_prime_UTR_variant BTCA-JP 17 20922484 20922484 single base substitution A T exon_variant BTCA-JP 17 20922484 20922484 single base substitution A T intron_variant BTCA-JP 17 20922484 20922484 single base substitution A T missense_variant F133I 397T>A BTCA-JP 17 20922484 20922484 single base substitution A T missense_variant F145I 433T>A BTCA-JP 17 20922484 20922484 single base substitution A T missense_variant F40I 118T>A BTCA-JP 17 20922484 20922484 single base substitution A T upstream_gene_variant BTCA-JP 17 20945875 20945876 deletion of <=200bp CA - intron_variant BTCA-JP 17 20945875 20945876 deletion of <=200bp CA - upstream_gene_variant BTCA-JP 17 20945887 20945887 single base substitution G A intron_variant BTCA-JP 17 20945887 20945887 single base substitution G A upstream_gene_variant CESC-US 17 20919105 20919105 single base substitution G A 3_prime_UTR_variant CESC-US 17 20919105 20919105 single base substitution G A downstream_gene_variant CESC-US 17 20919105 20919105 single base substitution G A exon_variant CESC-US 17 20919105 20919105 single base substitution G A intron_variant CESC-US 17 20919105 20919105 single base substitution G A synonymous_variant F254F 762C>T CESC-US 17 20919105 20919105 single base substitution G A synonymous_variant F266F 798C>T CESC-US 17 20919105 20919105 single base substitution G A upstream_gene_variant CESC-US 17 20919144 20919144 single base substitution C T 3_prime_UTR_variant CESC-US 17 20919144 20919144 single base substitution C T downstream_gene_variant CESC-US 17 20919144 20919144 single base substitution C T exon_variant CESC-US 17 20919144 20919144 single base substitution C T intron_variant CESC-US 17 20919144 20919144 single base substitution C T synonymous_variant R241R 723G>A CESC-US 17 20919144 20919144 single base substitution C T synonymous_variant R253R 759G>A CESC-US 17 20919144 20919144 single base substitution C T upstream_gene_variant CLLE-ES 17 20904803 20904803 single base substitution T C 3_prime_UTR_variant CLLE-ES 17 20904803 20904803 single base substitution T C downstream_gene_variant CLLE-ES 17 20927882 20927882 single base substitution A G intron_variant CLLE-ES 17 20927882 20927882 single base substitution A G upstream_gene_variant CLLE-ES 17 20940027 20940027 single base substitution T C intron_variant COAD-US 17 20908273 20908273 single base substitution C T 3_prime_UTR_variant COAD-US 17 20908273 20908273 single base substitution C T downstream_gene_variant COAD-US 17 20908273 20908273 single base substitution C T exon_variant COAD-US 17 20908273 20908273 single base substitution C T intron_variant COAD-US 17 20908273 20908273 single base substitution C T synonymous_variant Q439Q 1317G>A COAD-US 17 20908273 20908273 single base substitution C T synonymous_variant Q451Q 1353G>A COAD-US 17 20910275 20910275 single base substitution C T 3_prime_UTR_variant COAD-US 17 20910275 20910275 single base substitution C T downstream_gene_variant COAD-US 17 20910275 20910275 single base substitution C T exon_variant COAD-US 17 20910275 20910275 single base substitution C T intron_variant COAD-US 17 20910275 20910275 single base substitution C T missense_variant R407Q 1220G>A COAD-US 17 20910275 20910275 single base substitution C T missense_variant R419Q 1256G>A COAD-US 17 20910275 20910275 single base substitution C T upstream_gene_variant COAD-US 17 20911204 20911204 single base substitution G T 3_prime_UTR_variant COAD-US 17 20911204 20911204 single base substitution G T downstream_gene_variant COAD-US 17 20911204 20911204 single base substitution G T exon_variant COAD-US 17 20911204 20911204 single base substitution G T intron_variant COAD-US 17 20911204 20911204 single base substitution G T synonymous_variant I391I 1173C>A COAD-US 17 20911204 20911204 single base substitution G T synonymous_variant I403I 1209C>A COAD-US 17 20911204 20911204 single base substitution G T upstream_gene_variant COAD-US 17 20921317 20921317 single base substitution G A 3_prime_UTR_variant COAD-US 17 20921317 20921317 single base substitution G A exon_variant COAD-US 17 20921317 20921317 single base substitution G A intron_variant COAD-US 17 20921317 20921317 single base substitution G A missense_variant R105C 313C>T COAD-US 17 20921317 20921317 single base substitution G A missense_variant R198C 592C>T COAD-US 17 20921317 20921317 single base substitution G A missense_variant R210C 628C>T COAD-US 17 20921317 20921317 single base substitution G A missense_variant R55C 163C>T COAD-US 17 20922488 20922488 single base substitution C A 3_prime_UTR_variant COAD-US 17 20922488 20922488 single base substitution C A exon_variant COAD-US 17 20922488 20922488 single base substitution C A intron_variant COAD-US 17 20922488 20922488 single base substitution C A missense_variant E131D 393G>T COAD-US 17 20922488 20922488 single base substitution C A missense_variant E143D 429G>T COAD-US 17 20922488 20922488 single base substitution C A missense_variant E38D 114G>T COAD-US 17 20922488 20922488 single base substitution C A upstream_gene_variant COAD-US 17 20924446 20924446 single base substitution C T 3_prime_UTR_variant COAD-US 17 20924446 20924446 single base substitution C T exon_variant COAD-US 17 20924446 20924446 single base substitution C T intron_variant COAD-US 17 20924446 20924446 single base substitution C T missense_variant R121Q 362G>A COAD-US 17 20924446 20924446 single base substitution C T missense_variant R133Q 398G>A COAD-US 17 20924446 20924446 single base substitution C T missense_variant R28Q 83G>A COAD-US 17 20924446 20924446 single base substitution C T upstream_gene_variant COCA-CN 17 20908187 20908187 single base substitution C T downstream_gene_variant COCA-CN 17 20908187 20908187 single base substitution C T intron_variant COCA-CN 17 20912402 20912402 single base substitution T C downstream_gene_variant COCA-CN 17 20912402 20912402 single base substitution T C intron_variant COCA-CN 17 20912402 20912402 single base substitution T C upstream_gene_variant COCA-CN 17 20919128 20919128 single base substitution C T 3_prime_UTR_variant COCA-CN 17 20919128 20919128 single base substitution C T downstream_gene_variant COCA-CN 17 20919128 20919128 single base substitution C T exon_variant COCA-CN 17 20919128 20919128 single base substitution C T intron_variant COCA-CN 17 20919128 20919128 single base substitution C T missense_variant E247K 739G>A COCA-CN 17 20919128 20919128 single base substitution C T missense_variant E259K 775G>A COCA-CN 17 20919128 20919128 single base substitution C T upstream_gene_variant COCA-CN 17 20924446 20924446 single base substitution C T 3_prime_UTR_variant COCA-CN 17 20924446 20924446 single base substitution C T exon_variant COCA-CN 17 20924446 20924446 single base substitution C T intron_variant COCA-CN 17 20924446 20924446 single base substitution C T missense_variant R121Q 362G>A COCA-CN 17 20924446 20924446 single base substitution C T missense_variant R133Q 398G>A COCA-CN 17 20924446 20924446 single base substitution C T missense_variant R28Q 83G>A COCA-CN 17 20924446 20924446 single base substitution C T upstream_gene_variant COCA-CN 17 20932133 20932133 single base substitution T G intron_variant EOPC-DE 17 20931587 20931587 single base substitution G T intron_variant EOPC-DE 17 20939139 20939139 single base substitution C T intron_variant EOPC-DE 17 20943865 20943865 single base substitution C G intron_variant ESAD-UK 17 20899752 20899752 single base substitution C T downstream_gene_variant ESAD-UK 17 20901143 20901143 single base substitution G A downstream_gene_variant ESAD-UK 17 20901638 20901638 single base substitution T C downstream_gene_variant ESAD-UK 17 20902479 20902479 single base substitution T C downstream_gene_variant ESAD-UK 17 20902522 20902522 single base substitution C T downstream_gene_variant ESAD-UK 17 20906267 20906267 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 17 20906267 20906267 deletion of <=200bp G - downstream_gene_variant ESAD-UK 17 20906267 20906267 deletion of <=200bp G - intron_variant ESAD-UK 17 20907944 20907944 single base substitution A C downstream_gene_variant ESAD-UK 17 20907944 20907944 single base substitution A C intron_variant ESAD-UK 17 20908759 20908759 single base substitution T C downstream_gene_variant ESAD-UK 17 20908759 20908759 single base substitution T C intron_variant ESAD-UK 17 20908759 20908759 single base substitution T C upstream_gene_variant ESAD-UK 17 20910217 20910217 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 20910217 20910217 single base substitution C A downstream_gene_variant ESAD-UK 17 20910217 20910217 single base substitution C A exon_variant ESAD-UK 17 20910217 20910217 single base substitution C A intron_variant ESAD-UK 17 20910217 20910217 single base substitution C A missense_variant M426I 1278G>T ESAD-UK 17 20910217 20910217 single base substitution C A missense_variant M438I 1314G>T ESAD-UK 17 20910217 20910217 single base substitution C A upstream_gene_variant ESAD-UK 17 20910279 20910279 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 20910279 20910279 single base substitution G A downstream_gene_variant ESAD-UK 17 20910279 20910279 single base substitution G A exon_variant ESAD-UK 17 20910279 20910279 single base substitution G A intron_variant ESAD-UK 17 20910279 20910279 single base substitution G A synonymous_variant L406L 1216C>T ESAD-UK 17 20910279 20910279 single base substitution G A synonymous_variant L418L 1252C>T ESAD-UK 17 20910279 20910279 single base substitution G A upstream_gene_variant ESAD-UK 17 20910770 20910770 single base substitution G A downstream_gene_variant ESAD-UK 17 20910770 20910770 single base substitution G A intron_variant ESAD-UK 17 20910770 20910770 single base substitution G A upstream_gene_variant ESAD-UK 17 20913703 20913703 single base substitution T A downstream_gene_variant ESAD-UK 17 20913703 20913703 single base substitution T A intron_variant ESAD-UK 17 20918975 20918975 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 20918975 20918975 deletion of <=200bp T - exon_variant ESAD-UK 17 20918975 20918975 deletion of <=200bp T - intron_variant ESAD-UK 17 20918975 20918975 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 20920842 20920842 single base substitution T G downstream_gene_variant ESAD-UK 17 20920842 20920842 single base substitution T G intron_variant ESAD-UK 17 20924689 20924689 single base substitution G A intron_variant ESAD-UK 17 20924689 20924689 single base substitution G A upstream_gene_variant ESAD-UK 17 20927353 20927353 single base substitution G A intron_variant ESAD-UK 17 20927353 20927353 single base substitution G A upstream_gene_variant ESAD-UK 17 20941575 20941575 single base substitution G A intron_variant ESAD-UK 17 20943333 20943333 single base substitution G A intron_variant ESAD-UK 17 20943526 20943526 single base substitution C T intron_variant ESAD-UK 17 20947330 20947330 single base substitution C T upstream_gene_variant ESAD-UK 17 20948135 20948135 single base substitution G A upstream_gene_variant ESAD-UK 17 20948571 20948571 single base substitution G A upstream_gene_variant ESAD-UK 17 20950414 20950414 single base substitution A C upstream_gene_variant ESAD-UK 17 20950954 20950954 single base substitution C T upstream_gene_variant GBM-US 17 20924447 20924447 single base substitution G T 3_prime_UTR_variant GBM-US 17 20924447 20924447 single base substitution G T exon_variant GBM-US 17 20924447 20924447 single base substitution G T intron_variant GBM-US 17 20924447 20924447 single base substitution G T synonymous_variant R121R 361C>A GBM-US 17 20924447 20924447 single base substitution G T synonymous_variant R133R 397C>A GBM-US 17 20924447 20924447 single base substitution G T synonymous_variant R28R 82C>A GBM-US 17 20924447 20924447 single base substitution G T upstream_gene_variant GBM-US 17 20931977 20931977 single base substitution C T 5_prime_UTR_variant GBM-US 17 20931977 20931977 single base substitution C T exon_variant GBM-US 17 20931977 20931977 single base substitution C T missense_variant C49Y 146G>A GBM-US 17 20931977 20931977 single base substitution C T missense_variant C61Y 182G>A KIRC-US 17 20911265 20911265 single base substitution C T 3_prime_UTR_variant KIRC-US 17 20911265 20911265 single base substitution C T downstream_gene_variant KIRC-US 17 20911265 20911265 single base substitution C T exon_variant KIRC-US 17 20911265 20911265 single base substitution C T intron_variant KIRC-US 17 20911265 20911265 single base substitution C T missense_variant C371Y 1112G>A KIRC-US 17 20911265 20911265 single base substitution C T missense_variant C383Y 1148G>A KIRC-US 17 20911265 20911265 single base substitution C T upstream_gene_variant LAML-KR 17 20906251 20906251 single base substitution C T 3_prime_UTR_variant LAML-KR 17 20906251 20906251 single base substitution C T downstream_gene_variant LAML-KR 17 20906251 20906251 single base substitution C T intron_variant LAML-KR 17 20934807 20934807 single base substitution C A intron_variant LAML-KR 17 20934831 20934831 single base substitution A G intron_variant LAML-KR 17 20941636 20941636 single base substitution A T intron_variant LICA-FR 17 20906314 20906314 single base substitution C A 3_prime_UTR_variant LICA-FR 17 20906314 20906314 single base substitution C A downstream_gene_variant LICA-FR 17 20906314 20906314 single base substitution C A intron_variant LICA-FR 17 20909821 20909821 insertion of <=200bp - T downstream_gene_variant LICA-FR 17 20909821 20909821 insertion of <=200bp - T exon_variant LICA-FR 17 20909821 20909821 insertion of <=200bp - T intron_variant LICA-FR 17 20909821 20909821 insertion of <=200bp - T upstream_gene_variant LICA-FR 17 20919224 20919224 single base substitution C T downstream_gene_variant LICA-FR 17 20919224 20919224 single base substitution C T intron_variant LICA-FR 17 20919224 20919224 single base substitution C T upstream_gene_variant LICA-FR 17 20921257 20921257 single base substitution C T downstream_gene_variant LICA-FR 17 20921257 20921257 single base substitution C T intron_variant LICA-FR 17 20921257 20921257 single base substitution C T missense_variant E125K 373G>A LICA-FR 17 20921257 20921257 single base substitution C T missense_variant E218K 652G>A LICA-FR 17 20921257 20921257 single base substitution C T missense_variant E230K 688G>A LICA-FR 17 20921257 20921257 single base substitution C T missense_variant E75K 223G>A LICA-FR 17 20921257 20921257 single base substitution C T splice_region_variant LICA-FR 17 20923558 20923564 deletion of <=200bp AAAAAAA - intron_variant LICA-FR 17 20923558 20923564 deletion of <=200bp AAAAAAA - upstream_gene_variant LICA-FR 17 20930297 20930297 single base substitution T C intron_variant LICA-FR 17 20933252 20933254 deletion of <=200bp CTG - intron_variant LICA-FR 17 20941691 20941691 deletion of <=200bp A - intron_variant LIHC-US 17 20919135 20919135 single base substitution T A 3_prime_UTR_variant LIHC-US 17 20919135 20919135 single base substitution T A downstream_gene_variant LIHC-US 17 20919135 20919135 single base substitution T A exon_variant LIHC-US 17 20919135 20919135 single base substitution T A intron_variant LIHC-US 17 20919135 20919135 single base substitution T A synonymous_variant A244A 732A>T LIHC-US 17 20919135 20919135 single base substitution T A synonymous_variant A256A 768A>T LIHC-US 17 20919135 20919135 single base substitution T A upstream_gene_variant LINC-JP 17 20903238 20903238 single base substitution T A 3_prime_UTR_variant LINC-JP 17 20903238 20903238 single base substitution T A downstream_gene_variant LINC-JP 17 20905343 20905358 deletion of <=200bp GCGGTAGCCAGGCAAT - 3_prime_UTR_variant LINC-JP 17 20905343 20905358 deletion of <=200bp GCGGTAGCCAGGCAAT - downstream_gene_variant LINC-JP 17 20907638 20907638 single base substitution T C 3_prime_UTR_variant LINC-JP 17 20907638 20907638 single base substitution T C downstream_gene_variant LINC-JP 17 20907638 20907638 single base substitution T C exon_variant LINC-JP 17 20907638 20907638 single base substitution T C intron_variant LINC-JP 17 20907638 20907638 single base substitution T C missense_variant H459R 1376A>G LINC-JP 17 20907638 20907638 single base substitution T C missense_variant H471R 1412A>G LINC-JP 17 20916014 20916014 single base substitution C T downstream_gene_variant LINC-JP 17 20916014 20916014 single base substitution C T intron_variant LINC-JP 17 20916014 20916014 single base substitution C T upstream_gene_variant LINC-JP 17 20916105 20916105 single base substitution A T downstream_gene_variant LINC-JP 17 20916105 20916105 single base substitution A T intron_variant LINC-JP 17 20916105 20916105 single base substitution A T upstream_gene_variant LINC-JP 17 20917107 20917107 single base substitution G A downstream_gene_variant LINC-JP 17 20917107 20917107 single base substitution G A intron_variant LINC-JP 17 20917107 20917107 single base substitution G A upstream_gene_variant LINC-JP 17 20919423 20919423 single base substitution T A downstream_gene_variant LINC-JP 17 20919423 20919423 single base substitution T A intron_variant LINC-JP 17 20919423 20919423 single base substitution T A upstream_gene_variant LINC-JP 17 20931769 20931769 single base substitution T C intron_variant LINC-JP 17 20937343 20937343 single base substitution T A intron_variant LIRI-JP 17 20898267 20898267 single base substitution A C downstream_gene_variant LIRI-JP 17 20900364 20900364 single base substitution T C downstream_gene_variant LIRI-JP 17 20908896 20908896 single base substitution C G downstream_gene_variant LIRI-JP 17 20908896 20908896 single base substitution C G intron_variant LIRI-JP 17 20908896 20908896 single base substitution C G upstream_gene_variant LIRI-JP 17 20912938 20912938 single base substitution A C downstream_gene_variant LIRI-JP 17 20912938 20912938 single base substitution A C intron_variant LIRI-JP 17 20912938 20912938 single base substitution A C upstream_gene_variant LIRI-JP 17 20916613 20916613 single base substitution T C downstream_gene_variant LIRI-JP 17 20916613 20916613 single base substitution T C intron_variant LIRI-JP 17 20916613 20916613 single base substitution T C upstream_gene_variant LIRI-JP 17 20917884 20917884 single base substitution A C downstream_gene_variant LIRI-JP 17 20917884 20917884 single base substitution A C intron_variant LIRI-JP 17 20917884 20917884 single base substitution A C upstream_gene_variant LIRI-JP 17 20919202 20919202 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 20919202 20919202 single base substitution C A downstream_gene_variant LIRI-JP 17 20919202 20919202 single base substitution C A exon_variant LIRI-JP 17 20919202 20919202 single base substitution C A intron_variant LIRI-JP 17 20919202 20919202 single base substitution C A missense_variant G222V 665G>T LIRI-JP 17 20919202 20919202 single base substitution C A missense_variant G234V 701G>T LIRI-JP 17 20919202 20919202 single base substitution C A upstream_gene_variant LIRI-JP 17 20920188 20920188 single base substitution T C downstream_gene_variant LIRI-JP 17 20920188 20920188 single base substitution T C intron_variant LIRI-JP 17 20921032 20921032 single base substitution G A downstream_gene_variant LIRI-JP 17 20921032 20921032 single base substitution G A intron_variant LIRI-JP 17 20922907 20922907 single base substitution T C intron_variant LIRI-JP 17 20922907 20922907 single base substitution T C upstream_gene_variant LIRI-JP 17 20923667 20923667 single base substitution T C intron_variant LIRI-JP 17 20923667 20923667 single base substitution T C upstream_gene_variant LIRI-JP 17 20924343 20924343 single base substitution C A intron_variant LIRI-JP 17 20924343 20924343 single base substitution C A upstream_gene_variant LIRI-JP 17 20927755 20927755 single base substitution T C intron_variant LIRI-JP 17 20927755 20927755 single base substitution T C upstream_gene_variant LIRI-JP 17 20931580 20931580 single base substitution T C intron_variant LIRI-JP 17 20935696 20935696 single base substitution T C intron_variant LIRI-JP 17 20936469 20936469 single base substitution A T intron_variant LIRI-JP 17 20938937 20938937 single base substitution G A intron_variant LIRI-JP 17 20939496 20939496 single base substitution T C intron_variant LIRI-JP 17 20940735 20940735 single base substitution C T intron_variant LIRI-JP 17 20941852 20941852 single base substitution A C intron_variant LIRI-JP 17 20942033 20942033 single base substitution A T intron_variant LIRI-JP 17 20942937 20942937 single base substitution G T intron_variant LIRI-JP 17 20943034 20943034 deletion of <=200bp C - intron_variant LIRI-JP 17 20947383 20947383 single base substitution C T upstream_gene_variant LIRI-JP 17 20948630 20948639 deletion of <=200bp AAAACCATGT - upstream_gene_variant LIRI-JP 17 20949203 20949203 single base substitution C A upstream_gene_variant LIRI-JP 17 20950069 20950069 single base substitution C T upstream_gene_variant LIRI-JP 17 20951039 20951039 single base substitution G T upstream_gene_variant LIRI-JP 17 20951434 20951434 single base substitution A G upstream_gene_variant LIRI-JP 17 20951734 20951734 single base substitution C G upstream_gene_variant LUSC-KR 17 20904457 20904457 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 20904457 20904457 single base substitution C G downstream_gene_variant LUSC-KR 17 20908359 20908359 single base substitution C A downstream_gene_variant LUSC-KR 17 20908359 20908359 single base substitution C A exon_variant LUSC-KR 17 20908359 20908359 single base substitution C A intron_variant LUSC-KR 17 20909775 20909775 single base substitution T A downstream_gene_variant LUSC-KR 17 20909775 20909775 single base substitution T A intron_variant LUSC-KR 17 20909775 20909775 single base substitution T A upstream_gene_variant LUSC-KR 17 20912296 20912296 single base substitution C T downstream_gene_variant LUSC-KR 17 20912296 20912296 single base substitution C T intron_variant LUSC-KR 17 20912296 20912296 single base substitution C T upstream_gene_variant LUSC-KR 17 20918821 20918821 single base substitution C A downstream_gene_variant LUSC-KR 17 20918821 20918821 single base substitution C A intron_variant LUSC-KR 17 20918821 20918821 single base substitution C A upstream_gene_variant LUSC-KR 17 20922707 20922707 single base substitution G C intron_variant LUSC-KR 17 20922707 20922707 single base substitution G C upstream_gene_variant LUSC-KR 17 20922983 20922983 single base substitution G C intron_variant LUSC-KR 17 20922983 20922983 single base substitution G C upstream_gene_variant LUSC-KR 17 20930265 20930265 single base substitution C G intron_variant LUSC-US 17 20907656 20907657 deletion of <=200bp AG - 3_prime_UTR_variant LUSC-US 17 20907656 20907657 deletion of <=200bp AG - downstream_gene_variant LUSC-US 17 20907656 20907657 deletion of <=200bp AG - exon_variant LUSC-US 17 20907656 20907657 deletion of <=200bp AG - frameshift_variant L453 LUSC-US 17 20907656 20907657 deletion of <=200bp AG - frameshift_variant L465 LUSC-US 17 20907656 20907657 deletion of <=200bp AG - intron_variant LUSC-US 17 20922416 20922416 single base substitution G A 3_prime_UTR_variant LUSC-US 17 20922416 20922416 single base substitution G A exon_variant LUSC-US 17 20922416 20922416 single base substitution G A intron_variant LUSC-US 17 20922416 20922416 single base substitution G A synonymous_variant I12I 36C>T LUSC-US 17 20922416 20922416 single base substitution G A synonymous_variant I155I 465C>T LUSC-US 17 20922416 20922416 single base substitution G A synonymous_variant I167I 501C>T LUSC-US 17 20922416 20922416 single base substitution G A synonymous_variant I62I 186C>T LUSC-US 17 20922416 20922416 single base substitution G A upstream_gene_variant MALY-DE 17 20904843 20904843 single base substitution A T 3_prime_UTR_variant MALY-DE 17 20904843 20904843 single base substitution A T downstream_gene_variant MALY-DE 17 20906502 20906502 single base substitution C T downstream_gene_variant MALY-DE 17 20906502 20906502 single base substitution C T intron_variant MALY-DE 17 20913286 20913286 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 20913286 20913286 deletion of <=200bp A - intron_variant MALY-DE 17 20913286 20913286 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 20915638 20915638 single base substitution A G downstream_gene_variant MALY-DE 17 20915638 20915638 single base substitution A G intron_variant MALY-DE 17 20915638 20915638 single base substitution A G upstream_gene_variant MALY-DE 17 20918568 20918568 single base substitution A G downstream_gene_variant MALY-DE 17 20918568 20918568 single base substitution A G intron_variant MALY-DE 17 20918568 20918568 single base substitution A G upstream_gene_variant MALY-DE 17 20920182 20920182 single base substitution C T downstream_gene_variant MALY-DE 17 20920182 20920182 single base substitution C T intron_variant MALY-DE 17 20930696 20930696 single base substitution T C intron_variant MALY-DE 17 20931130 20931130 single base substitution A T intron_variant MALY-DE 17 20937937 20937937 single base substitution T C intron_variant MALY-DE 17 20937992 20937992 single base substitution T C intron_variant MALY-DE 17 20942389 20942389 single base substitution C A intron_variant MELA-AU 17 20898109 20898109 single base substitution C T downstream_gene_variant MELA-AU 17 20898445 20898445 single base substitution G A downstream_gene_variant MELA-AU 17 20898469 20898469 single base substitution C T downstream_gene_variant MELA-AU 17 20899303 20899303 single base substitution G A downstream_gene_variant MELA-AU 17 20899577 20899577 single base substitution C T downstream_gene_variant MELA-AU 17 20899775 20899775 single base substitution G A downstream_gene_variant MELA-AU 17 20900145 20900145 single base substitution G A downstream_gene_variant MELA-AU 17 20900166 20900166 single base substitution C G downstream_gene_variant MELA-AU 17 20900168 20900168 single base substitution C T downstream_gene_variant MELA-AU 17 20900190 20900190 single base substitution C T downstream_gene_variant MELA-AU 17 20900658 20900658 single base substitution C T downstream_gene_variant MELA-AU 17 20900735 20900735 single base substitution G A downstream_gene_variant MELA-AU 17 20900935 20900935 single base substitution G C downstream_gene_variant MELA-AU 17 20901324 20901324 single base substitution C T downstream_gene_variant MELA-AU 17 20901567 20901567 single base substitution C T downstream_gene_variant MELA-AU 17 20901675 20901675 single base substitution G A downstream_gene_variant MELA-AU 17 20902026 20902026 single base substitution T A downstream_gene_variant MELA-AU 17 20902157 20902157 single base substitution C T downstream_gene_variant MELA-AU 17 20902318 20902319 multiple base substitution (>=2bp and <=200bp) AG TT downstream_gene_variant MELA-AU 17 20902652 20902652 single base substitution G A downstream_gene_variant MELA-AU 17 20902718 20902718 single base substitution G A downstream_gene_variant MELA-AU 17 20903055 20903055 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20903055 20903055 single base substitution G A downstream_gene_variant MELA-AU 17 20903107 20903107 single base substitution T C 3_prime_UTR_variant MELA-AU 17 20903107 20903107 single base substitution T C downstream_gene_variant MELA-AU 17 20903214 20903214 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20903214 20903214 single base substitution G A downstream_gene_variant MELA-AU 17 20903484 20903484 single base substitution T A 3_prime_UTR_variant MELA-AU 17 20903484 20903484 single base substitution T A downstream_gene_variant MELA-AU 17 20903744 20903744 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20903744 20903744 single base substitution G A downstream_gene_variant MELA-AU 17 20904227 20904227 single base substitution G C 3_prime_UTR_variant MELA-AU 17 20904227 20904227 single base substitution G C downstream_gene_variant MELA-AU 17 20904390 20904390 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20904390 20904390 single base substitution G A downstream_gene_variant MELA-AU 17 20904552 20904552 single base substitution C A 3_prime_UTR_variant MELA-AU 17 20904552 20904552 single base substitution C A downstream_gene_variant MELA-AU 17 20905406 20905406 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20905406 20905406 single base substitution G A downstream_gene_variant MELA-AU 17 20905434 20905434 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20905434 20905434 single base substitution G A downstream_gene_variant MELA-AU 17 20905470 20905470 single base substitution T C 3_prime_UTR_variant MELA-AU 17 20905470 20905470 single base substitution T C downstream_gene_variant MELA-AU 17 20906886 20906886 single base substitution G A downstream_gene_variant MELA-AU 17 20906886 20906886 single base substitution G A intron_variant MELA-AU 17 20907969 20907969 single base substitution G A downstream_gene_variant MELA-AU 17 20907969 20907969 single base substitution G A intron_variant MELA-AU 17 20908653 20908653 single base substitution G A downstream_gene_variant MELA-AU 17 20908653 20908653 single base substitution G A intron_variant MELA-AU 17 20908653 20908653 single base substitution G A upstream_gene_variant MELA-AU 17 20908766 20908766 single base substitution G A downstream_gene_variant MELA-AU 17 20908766 20908766 single base substitution G A intron_variant MELA-AU 17 20908766 20908766 single base substitution G A upstream_gene_variant MELA-AU 17 20909440 20909440 single base substitution G A downstream_gene_variant MELA-AU 17 20909440 20909440 single base substitution G A intron_variant MELA-AU 17 20909440 20909440 single base substitution G A upstream_gene_variant MELA-AU 17 20910392 20910392 single base substitution G A downstream_gene_variant MELA-AU 17 20910392 20910392 single base substitution G A intron_variant MELA-AU 17 20910392 20910392 single base substitution G A upstream_gene_variant MELA-AU 17 20910730 20910730 single base substitution T C downstream_gene_variant MELA-AU 17 20910730 20910730 single base substitution T C intron_variant MELA-AU 17 20910730 20910730 single base substitution T C upstream_gene_variant MELA-AU 17 20911040 20911040 single base substitution C T downstream_gene_variant MELA-AU 17 20911040 20911040 single base substitution C T intron_variant MELA-AU 17 20911040 20911040 single base substitution C T upstream_gene_variant MELA-AU 17 20911832 20911832 single base substitution G A downstream_gene_variant MELA-AU 17 20911832 20911832 single base substitution G A intron_variant MELA-AU 17 20911832 20911832 single base substitution G A upstream_gene_variant MELA-AU 17 20913259 20913259 single base substitution G A downstream_gene_variant MELA-AU 17 20913259 20913259 single base substitution G A intron_variant MELA-AU 17 20913259 20913259 single base substitution G A upstream_gene_variant MELA-AU 17 20914899 20914899 single base substitution G A downstream_gene_variant MELA-AU 17 20914899 20914899 single base substitution G A exon_variant MELA-AU 17 20914899 20914899 single base substitution G A intron_variant MELA-AU 17 20917083 20917083 single base substitution G A downstream_gene_variant MELA-AU 17 20917083 20917083 single base substitution G A intron_variant MELA-AU 17 20917083 20917083 single base substitution G A upstream_gene_variant MELA-AU 17 20917159 20917159 single base substitution G A downstream_gene_variant MELA-AU 17 20917159 20917159 single base substitution G A intron_variant MELA-AU 17 20917159 20917159 single base substitution G A upstream_gene_variant MELA-AU 17 20918651 20918651 single base substitution G A downstream_gene_variant MELA-AU 17 20918651 20918651 single base substitution G A intron_variant MELA-AU 17 20918651 20918651 single base substitution G A upstream_gene_variant MELA-AU 17 20918845 20918845 single base substitution G A downstream_gene_variant MELA-AU 17 20918845 20918845 single base substitution G A intron_variant MELA-AU 17 20918845 20918845 single base substitution G A upstream_gene_variant MELA-AU 17 20918940 20918940 single base substitution G A downstream_gene_variant MELA-AU 17 20918940 20918940 single base substitution G A intron_variant MELA-AU 17 20918940 20918940 single base substitution G A upstream_gene_variant MELA-AU 17 20919463 20919463 single base substitution A C downstream_gene_variant MELA-AU 17 20919463 20919463 single base substitution A C intron_variant MELA-AU 17 20919463 20919463 single base substitution A C upstream_gene_variant MELA-AU 17 20919559 20919559 single base substitution G A downstream_gene_variant MELA-AU 17 20919559 20919559 single base substitution G A intron_variant MELA-AU 17 20919559 20919559 single base substitution G A upstream_gene_variant MELA-AU 17 20920048 20920048 single base substitution G A downstream_gene_variant MELA-AU 17 20920048 20920048 single base substitution G A intron_variant MELA-AU 17 20921336 20921336 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20921336 20921336 single base substitution G A exon_variant MELA-AU 17 20921336 20921336 single base substitution G A intron_variant MELA-AU 17 20921336 20921336 single base substitution G A synonymous_variant F191F 573C>T MELA-AU 17 20921336 20921336 single base substitution G A synonymous_variant F203F 609C>T MELA-AU 17 20921336 20921336 single base substitution G A synonymous_variant F48F 144C>T MELA-AU 17 20921336 20921336 single base substitution G A synonymous_variant F98F 294C>T MELA-AU 17 20921786 20921786 single base substitution G T intron_variant MELA-AU 17 20921786 20921786 single base substitution G T upstream_gene_variant MELA-AU 17 20922480 20922480 single base substitution G A 3_prime_UTR_variant MELA-AU 17 20922480 20922480 single base substitution G A exon_variant MELA-AU 17 20922480 20922480 single base substitution G A intron_variant MELA-AU 17 20922480 20922480 single base substitution G A missense_variant S134L 401C>T MELA-AU 17 20922480 20922480 single base substitution G A missense_variant S146L 437C>T MELA-AU 17 20922480 20922480 single base substitution G A missense_variant S41L 122C>T MELA-AU 17 20922480 20922480 single base substitution G A upstream_gene_variant MELA-AU 17 20924403 20924403 single base substitution G A intron_variant MELA-AU 17 20924403 20924403 single base substitution G A upstream_gene_variant MELA-AU 17 20924558 20924558 single base substitution G A intron_variant MELA-AU 17 20924558 20924558 single base substitution G A upstream_gene_variant MELA-AU 17 20924767 20924767 single base substitution G A intron_variant MELA-AU 17 20924767 20924767 single base substitution G A upstream_gene_variant MELA-AU 17 20924907 20924907 single base substitution A G intron_variant MELA-AU 17 20924907 20924907 single base substitution A G upstream_gene_variant MELA-AU 17 20925037 20925037 single base substitution G A intron_variant MELA-AU 17 20925037 20925037 single base substitution G A upstream_gene_variant MELA-AU 17 20925756 20925756 single base substitution T C intron_variant MELA-AU 17 20925756 20925756 single base substitution T C upstream_gene_variant MELA-AU 17 20925763 20925763 single base substitution G A intron_variant MELA-AU 17 20925763 20925763 single base substitution G A upstream_gene_variant MELA-AU 17 20926099 20926099 single base substitution G A intron_variant MELA-AU 17 20926099 20926099 single base substitution G A upstream_gene_variant MELA-AU 17 20926379 20926379 insertion of <=200bp - TTA intron_variant MELA-AU 17 20926379 20926379 insertion of <=200bp - TTA upstream_gene_variant MELA-AU 17 20926719 20926719 single base substitution A G intron_variant MELA-AU 17 20926719 20926719 single base substitution A G upstream_gene_variant MELA-AU 17 20926790 20926790 single base substitution A G intron_variant MELA-AU 17 20926790 20926790 single base substitution A G upstream_gene_variant MELA-AU 17 20928326 20928326 single base substitution G A intron_variant MELA-AU 17 20928326 20928326 single base substitution G A upstream_gene_variant MELA-AU 17 20928367 20928367 single base substitution A G intron_variant MELA-AU 17 20928367 20928367 single base substitution A G upstream_gene_variant MELA-AU 17 20928536 20928536 single base substitution G A intron_variant MELA-AU 17 20928536 20928536 single base substitution G A upstream_gene_variant MELA-AU 17 20930184 20930184 single base substitution G A intron_variant MELA-AU 17 20930329 20930329 single base substitution G A intron_variant MELA-AU 17 20930440 20930440 single base substitution G A intron_variant MELA-AU 17 20930710 20930710 single base substitution G A intron_variant MELA-AU 17 20930943 20930943 single base substitution G A intron_variant MELA-AU 17 20931418 20931418 single base substitution T G intron_variant MELA-AU 17 20932244 20932245 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 20932632 20932632 single base substitution C T intron_variant MELA-AU 17 20933319 20933319 single base substitution G A intron_variant MELA-AU 17 20933967 20933967 single base substitution G A intron_variant MELA-AU 17 20933986 20933986 single base substitution G A intron_variant MELA-AU 17 20934149 20934149 single base substitution G A intron_variant MELA-AU 17 20937121 20937121 single base substitution G A intron_variant MELA-AU 17 20938518 20938518 single base substitution T C intron_variant MELA-AU 17 20939835 20939835 single base substitution G A intron_variant MELA-AU 17 20940065 20940065 single base substitution G A intron_variant MELA-AU 17 20941491 20941491 single base substitution T C intron_variant MELA-AU 17 20941528 20941528 single base substitution G A intron_variant MELA-AU 17 20941707 20941707 single base substitution G A intron_variant MELA-AU 17 20943722 20943722 single base substitution G A intron_variant MELA-AU 17 20945644 20945644 single base substitution G A intron_variant MELA-AU 17 20945644 20945644 single base substitution G A upstream_gene_variant MELA-AU 17 20945899 20945899 single base substitution G A intron_variant MELA-AU 17 20945899 20945899 single base substitution G A upstream_gene_variant MELA-AU 17 20946798 20946798 single base substitution C T exon_variant MELA-AU 17 20946798 20946798 single base substitution C T intron_variant MELA-AU 17 20946798 20946798 single base substitution C T upstream_gene_variant MELA-AU 17 20947938 20947938 single base substitution C T upstream_gene_variant MELA-AU 17 20948026 20948026 single base substitution G A upstream_gene_variant MELA-AU 17 20948187 20948187 single base substitution G A upstream_gene_variant MELA-AU 17 20948359 20948359 single base substitution C T upstream_gene_variant MELA-AU 17 20948628 20948628 single base substitution G A upstream_gene_variant MELA-AU 17 20948651 20948651 single base substitution G A upstream_gene_variant MELA-AU 17 20948863 20948863 single base substitution A G upstream_gene_variant MELA-AU 17 20948962 20948962 single base substitution T A upstream_gene_variant MELA-AU 17 20949478 20949478 single base substitution G A upstream_gene_variant MELA-AU 17 20949784 20949784 single base substitution G A upstream_gene_variant MELA-AU 17 20949962 20949962 single base substitution C T upstream_gene_variant MELA-AU 17 20950207 20950207 single base substitution G A upstream_gene_variant MELA-AU 17 20950743 20950743 single base substitution G A upstream_gene_variant MELA-AU 17 20950790 20950790 single base substitution T C upstream_gene_variant MELA-AU 17 20951060 20951060 single base substitution G C upstream_gene_variant MELA-AU 17 20951192 20951192 single base substitution C T upstream_gene_variant MELA-AU 17 20951207 20951207 single base substitution C T upstream_gene_variant MELA-AU 17 20951282 20951282 single base substitution C T upstream_gene_variant MELA-AU 17 20952027 20952027 single base substitution T G upstream_gene_variant ORCA-IN 17 20901311 20901311 single base substitution A G downstream_gene_variant ORCA-IN 17 20911184 20911184 single base substitution T C downstream_gene_variant ORCA-IN 17 20911184 20911184 single base substitution T C intron_variant ORCA-IN 17 20911184 20911184 single base substitution T C missense_variant K398R 1193A>G ORCA-IN 17 20911184 20911184 single base substitution T C missense_variant K410R 1229A>G ORCA-IN 17 20911184 20911184 single base substitution T C splice_region_variant ORCA-IN 17 20911184 20911184 single base substitution T C upstream_gene_variant ORCA-IN 17 20917243 20917243 single base substitution T C downstream_gene_variant ORCA-IN 17 20917243 20917243 single base substitution T C intron_variant ORCA-IN 17 20917243 20917243 single base substitution T C upstream_gene_variant ORCA-IN 17 20931912 20931912 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 17 20931912 20931912 single base substitution C A exon_variant ORCA-IN 17 20931912 20931912 single base substitution C A missense_variant G71C 211G>T ORCA-IN 17 20931912 20931912 single base substitution C A missense_variant G83C 247G>T ORCA-IN 17 20940557 20940557 single base substitution G C intron_variant OV-AU 17 20905472 20905472 single base substitution C T 3_prime_UTR_variant OV-AU 17 20905472 20905472 single base substitution C T downstream_gene_variant OV-AU 17 20905932 20905932 single base substitution C G 3_prime_UTR_variant OV-AU 17 20905932 20905932 single base substitution C G downstream_gene_variant OV-AU 17 20905932 20905932 single base substitution C G exon_variant OV-AU 17 20910907 20910907 single base substitution A G downstream_gene_variant OV-AU 17 20910907 20910907 single base substitution A G intron_variant OV-AU 17 20910907 20910907 single base substitution A G upstream_gene_variant OV-AU 17 20911485 20911485 single base substitution T A downstream_gene_variant OV-AU 17 20911485 20911485 single base substitution T A intron_variant OV-AU 17 20911485 20911485 single base substitution T A upstream_gene_variant OV-AU 17 20915888 20915888 single base substitution G A downstream_gene_variant OV-AU 17 20915888 20915888 single base substitution G A intron_variant OV-AU 17 20915888 20915888 single base substitution G A upstream_gene_variant OV-AU 17 20918927 20918927 single base substitution C T downstream_gene_variant OV-AU 17 20918927 20918927 single base substitution C T intron_variant OV-AU 17 20918927 20918927 single base substitution C T upstream_gene_variant OV-AU 17 20922663 20922663 single base substitution C T intron_variant OV-AU 17 20922663 20922663 single base substitution C T upstream_gene_variant OV-AU 17 20923826 20923826 single base substitution G C intron_variant OV-AU 17 20923826 20923826 single base substitution G C upstream_gene_variant OV-AU 17 20927897 20927897 single base substitution G A intron_variant OV-AU 17 20927897 20927897 single base substitution G A upstream_gene_variant OV-AU 17 20928744 20928744 single base substitution C A intron_variant OV-AU 17 20928744 20928744 single base substitution C A upstream_gene_variant OV-AU 17 20939129 20939129 single base substitution G C intron_variant OV-AU 17 20941732 20941732 single base substitution C A intron_variant OV-AU 17 20948184 20948184 single base substitution C T upstream_gene_variant OV-AU 17 20948232 20948232 single base substitution C T upstream_gene_variant OV-AU 17 20951993 20951993 single base substitution T A upstream_gene_variant PACA-AU 17 20906495 20906495 single base substitution C T downstream_gene_variant PACA-AU 17 20906495 20906495 single base substitution C T intron_variant PACA-AU 17 20907222 20907222 single base substitution A T downstream_gene_variant PACA-AU 17 20907222 20907222 single base substitution A T intron_variant PACA-AU 17 20907223 20907223 single base substitution A T downstream_gene_variant PACA-AU 17 20907223 20907223 single base substitution A T intron_variant PACA-AU 17 20927708 20927708 single base substitution G A intron_variant PACA-AU 17 20927708 20927708 single base substitution G A upstream_gene_variant PACA-AU 17 20928035 20928035 single base substitution C T intron_variant PACA-AU 17 20928035 20928035 single base substitution C T upstream_gene_variant PACA-AU 17 20931977 20931977 single base substitution C T 5_prime_UTR_variant PACA-AU 17 20931977 20931977 single base substitution C T exon_variant PACA-AU 17 20931977 20931977 single base substitution C T missense_variant C49Y 146G>A PACA-AU 17 20931977 20931977 single base substitution C T missense_variant C61Y 182G>A PACA-AU 17 20939237 20939237 single base substitution G C intron_variant PACA-AU 17 20941675 20941675 single base substitution A T intron_variant PACA-AU 17 20949234 20949234 single base substitution C T upstream_gene_variant PACA-CA 17 20898170 20898170 single base substitution G T downstream_gene_variant PACA-CA 17 20902747 20902747 single base substitution G T downstream_gene_variant PACA-CA 17 20906014 20906014 single base substitution G A 3_prime_UTR_variant PACA-CA 17 20906014 20906014 single base substitution G A downstream_gene_variant PACA-CA 17 20906014 20906014 single base substitution G A exon_variant PACA-CA 17 20907532 20907532 single base substitution G A 3_prime_UTR_variant PACA-CA 17 20907532 20907532 single base substitution G A downstream_gene_variant PACA-CA 17 20907532 20907532 single base substitution G A intron_variant PACA-CA 17 20907532 20907532 single base substitution G A synonymous_variant D494D 1482C>T PACA-CA 17 20907532 20907532 single base substitution G A synonymous_variant D506D 1518C>T PACA-CA 17 20910156 20910156 single base substitution C T downstream_gene_variant PACA-CA 17 20910156 20910156 single base substitution C T exon_variant PACA-CA 17 20910156 20910156 single base substitution C T intron_variant PACA-CA 17 20910156 20910156 single base substitution C T upstream_gene_variant PACA-CA 17 20910702 20910702 single base substitution C T downstream_gene_variant PACA-CA 17 20910702 20910702 single base substitution C T intron_variant PACA-CA 17 20910702 20910702 single base substitution C T upstream_gene_variant PACA-CA 17 20913703 20913703 single base substitution T A downstream_gene_variant PACA-CA 17 20913703 20913703 single base substitution T A intron_variant PACA-CA 17 20921943 20921943 single base substitution T C intron_variant PACA-CA 17 20921943 20921943 single base substitution T C upstream_gene_variant PACA-CA 17 20924938 20924938 single base substitution A G intron_variant PACA-CA 17 20924938 20924938 single base substitution A G upstream_gene_variant PACA-CA 17 20927321 20927321 single base substitution C A intron_variant PACA-CA 17 20927321 20927321 single base substitution C A upstream_gene_variant PACA-CA 17 20936835 20936835 single base substitution G C intron_variant PACA-CA 17 20939194 20939194 single base substitution A G intron_variant PACA-CA 17 20946072 20946072 single base substitution A G intron_variant PACA-CA 17 20946072 20946072 single base substitution A G missense_variant L26P 77T>C PACA-CA 17 20946072 20946072 single base substitution A G upstream_gene_variant PACA-CA 17 20949042 20949042 single base substitution C T upstream_gene_variant PACA-CA 17 20950912 20950912 single base substitution G A upstream_gene_variant PAEN-AU 17 20941725 20941725 single base substitution G T intron_variant PAEN-IT 17 20901123 20901123 single base substitution G A downstream_gene_variant PAEN-IT 17 20938078 20938078 single base substitution C A intron_variant PBCA-DE 17 20906240 20906240 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 20906240 20906240 single base substitution C T downstream_gene_variant PBCA-DE 17 20906240 20906240 single base substitution C T intron_variant PBCA-DE 17 20908082 20908103 deletion of <=200bp TAGTGGAGCTGCGGGCAGCCAA - downstream_gene_variant PBCA-DE 17 20908082 20908103 deletion of <=200bp TAGTGGAGCTGCGGGCAGCCAA - intron_variant PBCA-DE 17 20915745 20915745 single base substitution C T downstream_gene_variant PBCA-DE 17 20915745 20915745 single base substitution C T intron_variant PBCA-DE 17 20915745 20915745 single base substitution C T upstream_gene_variant PBCA-DE 17 20929972 20929972 insertion of <=200bp - A intron_variant PBCA-DE 17 20934505 20934505 single base substitution G T intron_variant PBCA-DE 17 20937384 20937384 insertion of <=200bp - A intron_variant PBCA-DE 17 20943917 20943917 deletion of <=200bp A - intron_variant PRAD-CA 17 20916194 20916194 single base substitution T A 3_prime_UTR_variant PRAD-CA 17 20916194 20916194 single base substitution T A downstream_gene_variant PRAD-CA 17 20916194 20916194 single base substitution T A exon_variant PRAD-CA 17 20916194 20916194 single base substitution T A intron_variant PRAD-CA 17 20916194 20916194 single base substitution T A missense_variant D286V 857A>T PRAD-CA 17 20916194 20916194 single base substitution T A missense_variant D298V 893A>T PRAD-CA 17 20916194 20916194 single base substitution T A upstream_gene_variant PRAD-CA 17 20941489 20941489 single base substitution C T intron_variant PRAD-CA 17 20944160 20944160 single base substitution A G intron_variant PRAD-CA 17 20950794 20950794 single base substitution G T upstream_gene_variant PRAD-UK 17 20907175 20907175 single base substitution T C downstream_gene_variant PRAD-UK 17 20907175 20907175 single base substitution T C intron_variant PRAD-UK 17 20909273 20909273 single base substitution G T downstream_gene_variant PRAD-UK 17 20909273 20909273 single base substitution G T intron_variant PRAD-UK 17 20909273 20909273 single base substitution G T upstream_gene_variant PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - 3_prime_UTR_variant PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - disruptive_inframe_deletion CHSYQES374S PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - disruptive_inframe_deletion CHSYQES386S PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - downstream_gene_variant PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - exon_variant PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - intron_variant PRAD-UK 17 20911239 20911256 deletion of <=200bp ACTCCTGGTAGCTATGGC - upstream_gene_variant PRAD-UK 17 20917486 20917486 single base substitution C A downstream_gene_variant PRAD-UK 17 20917486 20917486 single base substitution C A intron_variant PRAD-UK 17 20917486 20917486 single base substitution C A upstream_gene_variant PRAD-UK 17 20922148 20922148 single base substitution T A intron_variant PRAD-UK 17 20922148 20922148 single base substitution T A upstream_gene_variant PRAD-UK 17 20926043 20926043 single base substitution C T intron_variant PRAD-UK 17 20926043 20926043 single base substitution C T upstream_gene_variant PRAD-UK 17 20927338 20927338 single base substitution T C intron_variant PRAD-UK 17 20927338 20927338 single base substitution T C upstream_gene_variant PRAD-UK 17 20932387 20932387 single base substitution G A intron_variant PRAD-UK 17 20932477 20932487 deletion of <=200bp AACAGACCTCA - intron_variant PRAD-UK 17 20945073 20945073 single base substitution T G intron_variant PRAD-US 17 20910262 20910262 single base substitution G A 3_prime_UTR_variant PRAD-US 17 20910262 20910262 single base substitution G A downstream_gene_variant PRAD-US 17 20910262 20910262 single base substitution G A exon_variant PRAD-US 17 20910262 20910262 single base substitution G A intron_variant PRAD-US 17 20910262 20910262 single base substitution G A synonymous_variant T411T 1233C>T PRAD-US 17 20910262 20910262 single base substitution G A synonymous_variant T423T 1269C>T PRAD-US 17 20910262 20910262 single base substitution G A upstream_gene_variant RECA-EU 17 20900674 20900674 single base substitution G T downstream_gene_variant RECA-EU 17 20911621 20911621 single base substitution G A downstream_gene_variant RECA-EU 17 20911621 20911621 single base substitution G A intron_variant RECA-EU 17 20911621 20911621 single base substitution G A upstream_gene_variant RECA-EU 17 20943773 20943773 single base substitution A G intron_variant RECA-EU 17 20943902 20943902 single base substitution A T intron_variant SKCA-BR 17 20898236 20898236 single base substitution T G downstream_gene_variant SKCA-BR 17 20898254 20898254 single base substitution T G downstream_gene_variant SKCA-BR 17 20898267 20898267 single base substitution A C downstream_gene_variant SKCA-BR 17 20901244 20901244 single base substitution A C downstream_gene_variant SKCA-BR 17 20902433 20902433 single base substitution G A downstream_gene_variant SKCA-BR 17 20905064 20905064 single base substitution C A 3_prime_UTR_variant SKCA-BR 17 20905064 20905064 single base substitution C A downstream_gene_variant SKCA-BR 17 20906472 20906472 single base substitution G A downstream_gene_variant SKCA-BR 17 20906472 20906472 single base substitution G A intron_variant SKCA-BR 17 20906508 20906508 single base substitution G A downstream_gene_variant SKCA-BR 17 20906508 20906508 single base substitution G A intron_variant SKCA-BR 17 20906542 20906542 single base substitution G A downstream_gene_variant SKCA-BR 17 20906542 20906542 single base substitution G A intron_variant SKCA-BR 17 20906544 20906544 single base substitution G A downstream_gene_variant SKCA-BR 17 20906544 20906544 single base substitution G A intron_variant SKCA-BR 17 20906545 20906545 single base substitution T A downstream_gene_variant SKCA-BR 17 20906545 20906545 single base substitution T A intron_variant SKCA-BR 17 20906558 20906558 single base substitution G A downstream_gene_variant SKCA-BR 17 20906558 20906558 single base substitution G A intron_variant SKCA-BR 17 20906603 20906603 single base substitution A C downstream_gene_variant SKCA-BR 17 20906603 20906603 single base substitution A C intron_variant SKCA-BR 17 20906607 20906607 single base substitution G A downstream_gene_variant SKCA-BR 17 20906607 20906607 single base substitution G A intron_variant SKCA-BR 17 20908149 20908149 single base substitution G A downstream_gene_variant SKCA-BR 17 20908149 20908149 single base substitution G A intron_variant SKCA-BR 17 20912178 20912178 single base substitution T G downstream_gene_variant SKCA-BR 17 20912178 20912178 single base substitution T G intron_variant SKCA-BR 17 20912178 20912178 single base substitution T G upstream_gene_variant SKCA-BR 17 20916035 20916035 single base substitution A G downstream_gene_variant SKCA-BR 17 20916035 20916035 single base substitution A G intron_variant SKCA-BR 17 20916035 20916035 single base substitution A G upstream_gene_variant SKCA-BR 17 20917362 20917362 single base substitution G A downstream_gene_variant SKCA-BR 17 20917362 20917362 single base substitution G A intron_variant SKCA-BR 17 20917362 20917362 single base substitution G A upstream_gene_variant SKCA-BR 17 20918829 20918829 single base substitution A C downstream_gene_variant SKCA-BR 17 20918829 20918829 single base substitution A C intron_variant SKCA-BR 17 20918829 20918829 single base substitution A C upstream_gene_variant SKCA-BR 17 20921548 20921548 single base substitution C A exon_variant SKCA-BR 17 20921548 20921548 single base substitution C A intron_variant SKCA-BR 17 20922017 20922017 insertion of <=200bp - GA intron_variant SKCA-BR 17 20922017 20922017 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 17 20926502 20926502 single base substitution G A intron_variant SKCA-BR 17 20926502 20926502 single base substitution G A upstream_gene_variant SKCA-BR 17 20927934 20927934 single base substitution G A intron_variant SKCA-BR 17 20927934 20927934 single base substitution G A upstream_gene_variant SKCA-BR 17 20929590 20929590 single base substitution C A intron_variant SKCA-BR 17 20930876 20930876 single base substitution A C intron_variant SKCA-BR 17 20932262 20932293 deletion of <=200bp TGCTCCTGATCCTGATGGGCACCCCAAGCCCA - intron_variant SKCA-BR 17 20933405 20933405 single base substitution G A intron_variant SKCA-BR 17 20933681 20933685 deletion of <=200bp TTGTG - intron_variant SKCA-BR 17 20936490 20936490 single base substitution T G intron_variant SKCA-BR 17 20941514 20941514 single base substitution C T intron_variant SKCA-BR 17 20941992 20941992 single base substitution A G intron_variant SKCA-BR 17 20943190 20943190 single base substitution T C intron_variant SKCA-BR 17 20949165 20949165 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 20949872 20949872 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 17 20949875 20949875 single base substitution A T upstream_gene_variant SKCM-US 17 20906359 20906359 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20906359 20906359 single base substitution G A downstream_gene_variant SKCM-US 17 20906359 20906359 single base substitution G A intron_variant SKCM-US 17 20906359 20906359 single base substitution G A synonymous_variant F509F 1527C>T SKCM-US 17 20906359 20906359 single base substitution G A synonymous_variant F521F 1563C>T SKCM-US 17 20907598 20907598 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20907598 20907598 single base substitution G A downstream_gene_variant SKCM-US 17 20907598 20907598 single base substitution G A exon_variant SKCM-US 17 20907598 20907598 single base substitution G A intron_variant SKCM-US 17 20907598 20907598 single base substitution G A synonymous_variant I472I 1416C>T SKCM-US 17 20907598 20907598 single base substitution G A synonymous_variant I484I 1452C>T SKCM-US 17 20914557 20914557 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20914557 20914557 single base substitution G A downstream_gene_variant SKCM-US 17 20914557 20914557 single base substitution G A exon_variant SKCM-US 17 20914557 20914557 single base substitution G A intron_variant SKCM-US 17 20914557 20914557 single base substitution G A missense_variant P325L 974C>T SKCM-US 17 20914557 20914557 single base substitution G A missense_variant P337L 1010C>T SKCM-US 17 20914557 20914557 single base substitution G A synonymous_variant P97P 291C>T SKCM-US 17 20919102 20919102 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20919102 20919102 single base substitution G A downstream_gene_variant SKCM-US 17 20919102 20919102 single base substitution G A exon_variant SKCM-US 17 20919102 20919102 single base substitution G A intron_variant SKCM-US 17 20919102 20919102 single base substitution G A synonymous_variant L255L 765C>T SKCM-US 17 20919102 20919102 single base substitution G A synonymous_variant L267L 801C>T SKCM-US 17 20919102 20919102 single base substitution G A upstream_gene_variant SKCM-US 17 20921333 20921333 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20921333 20921333 single base substitution G A exon_variant SKCM-US 17 20921333 20921333 single base substitution G A intron_variant SKCM-US 17 20921333 20921333 single base substitution G A synonymous_variant F192F 576C>T SKCM-US 17 20921333 20921333 single base substitution G A synonymous_variant F204F 612C>T SKCM-US 17 20921333 20921333 single base substitution G A synonymous_variant F49F 147C>T SKCM-US 17 20921333 20921333 single base substitution G A synonymous_variant F99F 297C>T SKCM-US 17 20921375 20921375 single base substitution G A 3_prime_UTR_variant SKCM-US 17 20921375 20921375 single base substitution G A exon_variant SKCM-US 17 20921375 20921375 single base substitution G A intron_variant SKCM-US 17 20921375 20921375 single base substitution G A synonymous_variant I178I 534C>T SKCM-US 17 20921375 20921375 single base substitution G A synonymous_variant I190I 570C>T SKCM-US 17 20921375 20921375 single base substitution G A synonymous_variant I35I 105C>T SKCM-US 17 20921375 20921375 single base substitution G A synonymous_variant I85I 255C>T SKCM-US 17 20921418 20921418 single base substitution C A 3_prime_UTR_variant SKCM-US 17 20921418 20921418 single base substitution C A exon_variant SKCM-US 17 20921418 20921418 single base substitution C A intron_variant SKCM-US 17 20921418 20921418 single base substitution C A missense_variant R164L 491G>T SKCM-US 17 20921418 20921418 single base substitution C A missense_variant R176L 527G>T SKCM-US 17 20921418 20921418 single base substitution C A missense_variant R21L 62G>T SKCM-US 17 20921418 20921418 single base substitution C A missense_variant R71L 212G>T STAD-US 17 20907606 20907606 single base substitution T G 3_prime_UTR_variant STAD-US 17 20907606 20907606 single base substitution T G downstream_gene_variant STAD-US 17 20907606 20907606 single base substitution T G exon_variant STAD-US 17 20907606 20907606 single base substitution T G intron_variant STAD-US 17 20907606 20907606 single base substitution T G missense_variant S470R 1408A>C STAD-US 17 20907606 20907606 single base substitution T G missense_variant S482R 1444A>C STAD-US 17 20911279 20911279 single base substitution G A 3_prime_UTR_variant STAD-US 17 20911279 20911279 single base substitution G A downstream_gene_variant STAD-US 17 20911279 20911279 single base substitution G A exon_variant STAD-US 17 20911279 20911279 single base substitution G A intron_variant STAD-US 17 20911279 20911279 single base substitution G A synonymous_variant S366S 1098C>T STAD-US 17 20911279 20911279 single base substitution G A synonymous_variant S378S 1134C>T STAD-US 17 20911279 20911279 single base substitution G A upstream_gene_variant STAD-US 17 20921306 20921306 single base substitution C T 3_prime_UTR_variant STAD-US 17 20921306 20921306 single base substitution C T downstream_gene_variant STAD-US 17 20921306 20921306 single base substitution C T exon_variant STAD-US 17 20921306 20921306 single base substitution C T intron_variant STAD-US 17 20921306 20921306 single base substitution C T missense_variant M108I 324G>A STAD-US 17 20921306 20921306 single base substitution C T missense_variant M201I 603G>A STAD-US 17 20921306 20921306 single base substitution C T missense_variant M213I 639G>A STAD-US 17 20921306 20921306 single base substitution C T missense_variant M58I 174G>A STAD-US 17 20921343 20921343 single base substitution C T 3_prime_UTR_variant STAD-US 17 20921343 20921343 single base substitution C T exon_variant STAD-US 17 20921343 20921343 single base substitution C T intron_variant STAD-US 17 20921343 20921343 single base substitution C T missense_variant R189Q 566G>A STAD-US 17 20921343 20921343 single base substitution C T missense_variant R201Q 602G>A STAD-US 17 20921343 20921343 single base substitution C T missense_variant R46Q 137G>A STAD-US 17 20921343 20921343 single base substitution C T missense_variant R96Q 287G>A STAD-US 17 20921375 20921375 single base substitution G A 3_prime_UTR_variant STAD-US 17 20921375 20921375 single base substitution G A exon_variant STAD-US 17 20921375 20921375 single base substitution G A intron_variant STAD-US 17 20921375 20921375 single base substitution G A synonymous_variant I178I 534C>T STAD-US 17 20921375 20921375 single base substitution G A synonymous_variant I190I 570C>T STAD-US 17 20921375 20921375 single base substitution G A synonymous_variant I35I 105C>T STAD-US 17 20921375 20921375 single base substitution G A synonymous_variant I85I 255C>T STAD-US 17 20921419 20921419 single base substitution G A 3_prime_UTR_variant STAD-US 17 20921419 20921419 single base substitution G A exon_variant STAD-US 17 20921419 20921419 single base substitution G A intron_variant STAD-US 17 20921419 20921419 single base substitution G A missense_variant R164C 490C>T STAD-US 17 20921419 20921419 single base substitution G A missense_variant R176C 526C>T STAD-US 17 20921419 20921419 single base substitution G A missense_variant R21C 61C>T STAD-US 17 20921419 20921419 single base substitution G A missense_variant R71C 211C>T STAD-US 17 20921424 20921424 single base substitution C T intron_variant STAD-US 17 20921424 20921424 single base substitution C T missense_variant G162D 485G>A STAD-US 17 20921424 20921424 single base substitution C T missense_variant G174D 521G>A STAD-US 17 20921424 20921424 single base substitution C T missense_variant G19D 56G>A STAD-US 17 20921424 20921424 single base substitution C T missense_variant G69D 206G>A STAD-US 17 20921424 20921424 single base substitution C T splice_region_variant STAD-US 17 20922459 20922459 single base substitution C T 3_prime_UTR_variant STAD-US 17 20922459 20922459 single base substitution C T exon_variant STAD-US 17 20922459 20922459 single base substitution C T intron_variant STAD-US 17 20922459 20922459 single base substitution C T missense_variant R141Q 422G>A STAD-US 17 20922459 20922459 single base substitution C T missense_variant R153Q 458G>A STAD-US 17 20922459 20922459 single base substitution C T missense_variant R48Q 143G>A STAD-US 17 20922459 20922459 single base substitution C T upstream_gene_variant THCA-SA 17 20903068 20903068 single base substitution C A 3_prime_UTR_variant THCA-SA 17 20903068 20903068 single base substitution C A downstream_gene_variant THCA-SA 17 20906145 20906145 single base substitution G C 3_prime_UTR_variant THCA-SA 17 20906145 20906145 single base substitution G C downstream_gene_variant THCA-SA 17 20906145 20906145 single base substitution G C exon_variant UCEC-US 17 20906349 20906349 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 17 20906349 20906349 deletion of <=200bp C - downstream_gene_variant UCEC-US 17 20906349 20906349 deletion of <=200bp C - frameshift_variant E513 UCEC-US 17 20906349 20906349 deletion of <=200bp C - frameshift_variant E525 UCEC-US 17 20906349 20906349 deletion of <=200bp C - intron_variant UCEC-US 17 20907564 20907564 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20907564 20907564 single base substitution C T downstream_gene_variant UCEC-US 17 20907564 20907564 single base substitution C T exon_variant UCEC-US 17 20907564 20907564 single base substitution C T intron_variant UCEC-US 17 20907564 20907564 single base substitution C T missense_variant D484N 1450G>A UCEC-US 17 20907564 20907564 single base substitution C T missense_variant D496N 1486G>A UCEC-US 17 20911203 20911203 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20911203 20911203 single base substitution C T downstream_gene_variant UCEC-US 17 20911203 20911203 single base substitution C T exon_variant UCEC-US 17 20911203 20911203 single base substitution C T intron_variant UCEC-US 17 20911203 20911203 single base substitution C T missense_variant V392I 1174G>A UCEC-US 17 20911203 20911203 single base substitution C T missense_variant V404I 1210G>A UCEC-US 17 20911203 20911203 single base substitution C T upstream_gene_variant UCEC-US 17 20911242 20911242 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20911242 20911242 single base substitution C T downstream_gene_variant UCEC-US 17 20911242 20911242 single base substitution C T exon_variant UCEC-US 17 20911242 20911242 single base substitution C T intron_variant UCEC-US 17 20911242 20911242 single base substitution C T missense_variant E379K 1135G>A UCEC-US 17 20911242 20911242 single base substitution C T missense_variant E391K 1171G>A UCEC-US 17 20911242 20911242 single base substitution C T upstream_gene_variant UCEC-US 17 20914467 20914467 single base substitution C G 3_prime_UTR_variant UCEC-US 17 20914467 20914467 single base substitution C G downstream_gene_variant UCEC-US 17 20914467 20914467 single base substitution C G exon_variant UCEC-US 17 20914467 20914467 single base substitution C G intron_variant UCEC-US 17 20914467 20914467 single base substitution C G missense_variant R355P 1064G>C UCEC-US 17 20914467 20914467 single base substitution C G missense_variant R367P 1100G>C UCEC-US 17 20914478 20914478 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20914478 20914478 single base substitution C T downstream_gene_variant UCEC-US 17 20914478 20914478 single base substitution C T exon_variant UCEC-US 17 20914478 20914478 single base substitution C T intron_variant UCEC-US 17 20914478 20914478 single base substitution C T synonymous_variant T351T 1053G>A UCEC-US 17 20914478 20914478 single base substitution C T synonymous_variant T363T 1089G>A UCEC-US 17 20914479 20914479 single base substitution G A 3_prime_UTR_variant UCEC-US 17 20914479 20914479 single base substitution G A downstream_gene_variant UCEC-US 17 20914479 20914479 single base substitution G A exon_variant UCEC-US 17 20914479 20914479 single base substitution G A intron_variant UCEC-US 17 20914479 20914479 single base substitution G A missense_variant T351M 1052C>T UCEC-US 17 20914479 20914479 single base substitution G A missense_variant T363M 1088C>T UCEC-US 17 20919075 20919075 single base substitution T C 3_prime_UTR_variant UCEC-US 17 20919075 20919075 single base substitution T C downstream_gene_variant UCEC-US 17 20919075 20919075 single base substitution T C exon_variant UCEC-US 17 20919075 20919075 single base substitution T C intron_variant UCEC-US 17 20919075 20919075 single base substitution T C synonymous_variant R264R 792A>G UCEC-US 17 20919075 20919075 single base substitution T C synonymous_variant R276R 828A>G UCEC-US 17 20919075 20919075 single base substitution T C upstream_gene_variant UCEC-US 17 20919197 20919197 single base substitution G T 3_prime_UTR_variant UCEC-US 17 20919197 20919197 single base substitution G T downstream_gene_variant UCEC-US 17 20919197 20919197 single base substitution G T exon_variant UCEC-US 17 20919197 20919197 single base substitution G T intron_variant UCEC-US 17 20919197 20919197 single base substitution G T synonymous_variant R224R 670C>A UCEC-US 17 20919197 20919197 single base substitution G T synonymous_variant R236R 706C>A UCEC-US 17 20919197 20919197 single base substitution G T upstream_gene_variant UCEC-US 17 20921347 20921347 single base substitution G T 3_prime_UTR_variant UCEC-US 17 20921347 20921347 single base substitution G T exon_variant UCEC-US 17 20921347 20921347 single base substitution G T intron_variant UCEC-US 17 20921347 20921347 single base substitution G T missense_variant L188M 562C>A UCEC-US 17 20921347 20921347 single base substitution G T missense_variant L200M 598C>A UCEC-US 17 20921347 20921347 single base substitution G T missense_variant L45M 133C>A UCEC-US 17 20921347 20921347 single base substitution G T missense_variant L95M 283C>A UCEC-US 17 20921417 20921417 single base substitution A G 3_prime_UTR_variant UCEC-US 17 20921417 20921417 single base substitution A G exon_variant UCEC-US 17 20921417 20921417 single base substitution A G intron_variant UCEC-US 17 20921417 20921417 single base substitution A G synonymous_variant R164R 492T>C UCEC-US 17 20921417 20921417 single base substitution A G synonymous_variant R176R 528T>C UCEC-US 17 20921417 20921417 single base substitution A G synonymous_variant R21R 63T>C UCEC-US 17 20921417 20921417 single base substitution A G synonymous_variant R71R 213T>C UCEC-US 17 20921418 20921418 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20921418 20921418 single base substitution C T exon_variant UCEC-US 17 20921418 20921418 single base substitution C T intron_variant UCEC-US 17 20921418 20921418 single base substitution C T missense_variant R164H 491G>A UCEC-US 17 20921418 20921418 single base substitution C T missense_variant R176H 527G>A UCEC-US 17 20921418 20921418 single base substitution C T missense_variant R21H 62G>A UCEC-US 17 20921418 20921418 single base substitution C T missense_variant R71H 212G>A UCEC-US 17 20924446 20924446 single base substitution C T 3_prime_UTR_variant UCEC-US 17 20924446 20924446 single base substitution C T exon_variant UCEC-US 17 20924446 20924446 single base substitution C T intron_variant UCEC-US 17 20924446 20924446 single base substitution C T missense_variant R121Q 362G>A UCEC-US 17 20924446 20924446 single base substitution C T missense_variant R133Q 398G>A UCEC-US 17 20924446 20924446 single base substitution C T missense_variant R28Q 83G>A UCEC-US 17 20924446 20924446 single base substitution C T upstream_gene_variant UCEC-US 17 20931877 20931877 single base substitution C T 5_prime_UTR_variant UCEC-US 17 20931877 20931877 single base substitution C T exon_variant UCEC-US 17 20931877 20931877 single base substitution C T synonymous_variant A82A 246G>A UCEC-US 17 20931877 20931877 single base substitution C T synonymous_variant A94A 282G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A3XB-01 COSM3515126 c.2229C>T p.F743F Substitution - coding silent 17:21003046-21003046 - TCGA-EB-A3XB-01 COSM3515128 c.1467C>T p.L489L Substitution - coding silent 17:21015789-21015789 - OSCC-GB_00350111 COSM3712274 c.1895A>G p.K632R Substitution - Missense 17:21007871-21007871 - TCGA-AX-A05W-01 COSM976553 c.2239delG p.E747fs? Deletion - Frameshift 17:21003036-21003036 - OSCC-GB_01060111 COSM4882454 c.913G>T p.G305C Substitution - Missense 17:21028599-21028599 - S0057 COSM5882821 c.1419C>A p.H473Q Substitution - Missense 17:21015837-21015837 - BD79T COSM5520573 c.1099T>A p.F367I Substitution - Missense 17:21019171-21019171 - TCGA-CA-6717-01 COSM976566 c.1064G>A p.R355Q Substitution - Missense 17:21021133-21021133 - TARGET-20-PARCVS-04A-01D COSM5487618 c.1445A>G p.Q482R Substitution - Missense 17:21015811-21015811 - 8048309 COSM1159213 c.848G>A p.C283Y Substitution - Missense 17:21028664-21028664 - M003 COSM1740318 c.2103C>G p.H701Q Substitution - Missense 17:21004300-21004300 - SNUH_G45_S1 COSM3755336 c.1875C>A p.I625I Substitution - coding silent 17:21007891-21007891 - TCGA-BS-A0UM-01 COSM976555 c.1926G>A p.R642R Substitution - coding silent 17:21006958-21006958 - TCGA-CA-6717-01 COSM1381507 c.1095G>T p.E365D Substitution - Missense 17:21019175-21019175 - B96-Tumor COSM1749905 c.1783G>T p.E595* Substitution - Nonsense 17:21007983-21007983 - ICGC_0051 COSM1159213 c.848G>A p.C283Y Substitution - Missense 17:21028664-21028664 - 2492729 COSM5726100 c.1818C>T p.S606S Substitution - coding silent 17:21007948-21007948 - CHEWS031 COSM4579524 c.1510G>A p.D504N Substitution - Missense 17:21012930-21012930 - BK0047D COSM4187849 c.1574G>A p.G525D Substitution - Missense 17:21012866-21012866 - 3N24-VS-3T24 COSM4979718 c.982A>T p.M328L Substitution - Missense 17:21021215-21021215 - pfg127T COSM4765082 c.1536_1537insC p.N513fs*98 Insertion - Frameshift 17:21012903-21012904 - TCGA-B2-4098-01 COSM472430 c.1188T>C p.G396G Substitution - coding silent 17:21018110-21018110 - TCGA-BS-A0UV-01 COSM976567 c.948G>A p.A316A Substitution - coding silent 17:21028564-21028564 - sysucc-1370T COSM5470634 c.1441G>A p.E481K Substitution - Missense 17:21015815-21015815 - M003-PB_Prog COSM1740318 c.2103C>G p.H701Q Substitution - Missense 17:21004300-21004300 - PCSI_0083_Pa_P_526 COSM3787283 c.2184C>T p.D728D Substitution - coding silent 17:21004219-21004219 - NPC051D COSM4995714 c.943C>T p.H315Y Substitution - Missense 17:21028569-21028569 - L18 COSM5369352 c.1063C>T p.R355* Substitution - Nonsense 17:21021134-21021134 - TCGA-MU-A51Y-01 COSM4836609 c.1464C>T p.F488F Substitution - coding silent 17:21015792-21015792 - CPCG0083-F1 COSM4880192 c.1559A>T p.D520V Substitution - Missense 17:21012881-21012881 - TCGA-D1-A103-01 COSM976564 c.1194T>C p.R398R Substitution - coding silent 17:21018104-21018104 - ESO-0292 COSM1241880 c.2027C>T p.T676M Substitution - Missense 17:21004952-21004952 - TCGA-BR-7851-01 COSM4064726 c.1192C>T p.R398C Substitution - Missense 17:21018106-21018106 - TCGA-UB-A7MB-01 COSM4932747 c.1434A>T p.A478A Substitution - coding silent 17:21015822-21015822 - 2318492 COSM4776997 c.1586C>T p.S529L Substitution - Missense 17:21012854-21012854 - TCGA-B5-A0JY-01 COSM976559 c.1755G>A p.T585T Substitution - coding silent 17:21011165-21011165 - 35T COSM3712274 c.1895A>G p.K632R Substitution - Missense 17:21007871-21007871 - TCGA-66-2785-01 COSM705935 c.1167C>T p.I389I Substitution - coding silent 17:21019103-21019103 - T8 COSM5342895 c.498C>T p.S166S Substitution - coding silent 17:21043004-21043004 - TCGA-BP-5198-01 COSM472429 c.1814G>A p.C605Y Substitution - Missense 17:21007952-21007952 - TCGA-BH-A0HF-01 COSM3819038 c.1289G>A p.R430K Substitution - Missense 17:21018009-21018009 - TCGA-BR-4184-01 COSM4064728 c.1124G>A p.R375Q Substitution - Missense 17:21019146-21019146 - 142990 COSM1645111 c.1403A>G p.H468R Substitution - Missense 17:21015853-21015853 - TCGA-G4-6588-01 COSM1381504 c.2019G>A p.Q673Q Substitution - coding silent 17:21004960-21004960 - TCGA-BR-4280-01 COSM4064722 c.2110A>C p.S704R Substitution - Missense 17:21004293-21004293 - TCGA-EE-A2MR-06 COSM3889425 c.2118C>T p.I706I Substitution - coding silent 17:21004285-21004285 - YURAY COSM5385852 c.2057C>T p.S686F Substitution - Missense 17:21004346-21004346 - TCGA-D3-A51R-06 COSM3515127 c.1676C>T p.P559L Substitution - Missense 17:21011244-21011244 - CSCC-40-T COSM4568358 c.1771T>C p.F591L Substitution - Missense 17:21007995-21007995 - M004-PB COSM1740319 c.1607G>C p.C536S Substitution - Missense 17:21012833-21012833 - T2389 COSM4739715 c.1741A>G p.T581A Substitution - Missense 17:21011179-21011179 - PD7214a COSM5781883 c.1439A>G p.Y480C Substitution - Missense 17:21015817-21015817 - 6115237 COSM5573935 c.1537_1538insC p.N513fs*98 Insertion - Frameshift 17:21012902-21012903 - 084T COSM1731025 c.1339T>C p.S447P Substitution - Missense 17:21017959-21017959 - CLL082 COSM1290649 c.945T>C p.H315H Substitution - coding silent 17:21028567-21028567 - TCGA-DM-A1HA-01 COSM1381505 c.1922G>A p.R641Q Substitution - Missense 17:21006962-21006962 - SC_9039 COSM5555334 c.1698G>A p.G566G Substitution - coding silent 17:21011222-21011222 - TCGA-BH-A0HF-01 COSM3819037 c.1295G>A p.R432H Substitution - Missense 17:21018003-21018003 - HCC2998 COSM2798761 c.1172C>T p.S391L Substitution - Missense 17:21019098-21019098 - LUAD-E00897 COSM364416 c.1594A>C p.T532P Substitution - Missense 17:21012846-21012846 - TCGA-D8-A1XK-01 COSM3819036 c.1400T>C p.L467P Substitution - Missense 17:21015856-21015856 - TCGA-32-1977-01 COSM3402663 c.1063C>A p.R355R Substitution - coding silent 17:21021134-21021134 - STC297 COSM5055309 c.867C>T p.G289G Substitution - coding silent 17:21028645-21028645 - TCGA-MU-A5YI-01 COSM4855298 c.1425G>A p.R475R Substitution - coding silent 17:21015831-21015831 - Au4 COSM5605304 c.1275C>T p.F425F Substitution - coding silent 17:21018023-21018023 - TCGA-BR-8059-01 COSM4064725 c.1268G>A p.R423Q Substitution - Missense 17:21018030-21018030 - TCGA-D1-A103-01 COSM976561 c.1494A>G p.R498R Substitution - coding silent 17:21015762-21015762 - 0025_CRUK_PC_0025_T1_DNA COSM5421579 c.1823_1840del18 p.C608_E613delCHSYQE Deletion - In frame 17:21007926-21007943 - PCSI_0083_Pa_P_526 COSM3787284 c.743T>C p.L248P Substitution - Missense 17:21042759-21042759 - T55 COSM4739716 c.882delG p.R294fs*34 Deletion - Frameshift 17:21028630-21028630 - TCGA-D7-A4YX-01 COSM4064723 c.1800C>T p.S600S Substitution - coding silent 17:21007966-21007966 - LS180 COSM2798759 c.1257G>A p.T419T Substitution - coding silent 17:21018041-21018041 - PD22360a COSM5796077 c.1671C>A p.S557S Substitution - coding silent 17:21011249-21011249 - TCGA-B7-5816-01 COSM4064727 c.1187G>A p.G396D Substitution - Missense 17:21018111-21018111 - TCGA-AP-A0LM-01 COSM976556 c.1876G>A p.V626I Substitution - Missense 17:21007890-21007890 - TCGA-BR-4361-01 COSM4064724 c.1305G>A p.M435I Substitution - Missense 17:21017993-21017993 - 223 COSM4425438 c.1042A>G p.I348V Substitution - Missense 17:21021155-21021155 - TCGA-D1-A17B-01 COSM976558 c.1766G>C p.R589P Substitution - Missense 17:21011154-21011154 - TCGA-AP-A056-01 COSM976566 c.1064G>A p.R355Q Substitution - Missense 17:21021133-21021133 - S00472 COSM5657733 c.740A>G p.H247R Substitution - Missense 17:21042762-21042762 - TCGA-B7-5816-01 COSM3515130 c.1236C>T p.I412I Substitution - coding silent 17:21018062-21018062 - LS174T COSM2798759 c.1257G>A p.T419T Substitution - coding silent 17:21018041-21018041 - CHC892T COSM4794895 c.1354G>A p.E452K Substitution - Missense 17:21017944-21017944 - TCGA-AM-5821-01 COSM3755336 c.1875C>A p.I625I Substitution - coding silent 17:21007891-21007891 - HX24T COSM3717228 c.2078A>G p.H693R Substitution - Missense 17:21004325-21004325 - TCGA-EE-A2MU-06 COSM3515129 c.1278C>T p.F426F Substitution - coding silent 17:21018020-21018020 - 103477 COSM96263 c.1399C>T p.L467L Substitution - coding silent 17:21015857-21015857 - CHEWS007 COSM4579525 c.845C>T p.S282F Substitution - Missense 17:21028667-21028667 - TCGA-D1-A103-01 COSM976557 c.1837G>A p.E613K Substitution - Missense 17:21007929-21007929 - 587222 COSM1232004 c.1929G>T p.K643N Substitution - Missense 17:21006955-21006955 - DLD1 COSM4623506 c.877A>G p.N293D Substitution - Missense 17:21028635-21028635 - B96 COSM1749905 c.1783G>T p.E595* Substitution - Nonsense 17:21007983-21007983 - TCGA-GN-A266-06 COSM3515130 c.1236C>T p.I412I Substitution - coding silent 17:21018062-21018062 - TCGA-AP-A059-01 COSM976565 c.1193G>A p.R398H Substitution - Missense 17:21018105-21018105 - M003-PB COSM1740318 c.2103C>G p.H701Q Substitution - Missense 17:21004300-21004300 - LP6005409-DNA_E01 COSM5033319 c.1918C>T p.L640L Substitution - coding silent 17:21006966-21006966 - TCGA-D1-A103-01 COSM976563 c.1264C>A p.L422M Substitution - Missense 17:21018034-21018034 - SNUH_G45_S1 COSM4000057 c.1896+10C>A p.? Unknown 17:21007860-21007860 - TCGA-D1-A17Q-01 COSM976554 c.2152G>A p.D718N Substitution - Missense 17:21004251-21004251 - 3N50-VS-3T50 COSM4982997 c.1736C>T p.S579L Substitution - Missense 17:21011184-21011184 - TCGA-EE-A20H-06 COSM3515131 c.1193G>T p.R398L Substitution - Missense 17:21018105-21018105 - T22 COSM3755336 c.1875C>A p.I625I Substitution - coding silent 17:21007891-21007891 - 8015277 COSM1159213 c.848G>A p.C283Y Substitution - Missense 17:21028664-21028664 - TCGA-B5-A0JY-01 COSM976567 c.948G>A p.A316A Substitution - coding silent 17:21028564-21028564 - HCT15 COSM4632714 c.769A>G p.K257E Substitution - Missense 17:21042733-21042733 - CHC892T COSM4794895 c.1354G>A p.E452K Substitution - Missense 17:21017944-21017944 - TCGA-AD-5900-01 COSM1381506 c.1294C>T p.R432C Substitution - Missense 17:21018004-21018004 - TCGA-13-0720-01 COSM111431 c.1686_1687delCC p.L563fs*47 Deletion - Frameshift 17:21011233-21011234 - LUAD-5V8LT COSM401687 c.667A>T p.M223L Substitution - Missense 17:21042835-21042835 - RK148_C01 COSM1630086 c.1367G>T p.G456V Substitution - Missense 17:21015889-21015889 - YUPAER COSM5385853 c.1993G>A p.E665K Substitution - Missense 17:21004986-21004986 - TCGA-41-2572-01 COSM1159213 c.848G>A p.C283Y Substitution - Missense 17:21028664-21028664 - BD236T COSM5519465 c.1256C>T p.T419M Substitution - Missense 17:21018042-21018042 - TCGA-CZ-5464-01 COSM472431 c.1129C>A p.L377I Substitution - Missense 17:21019141-21019141 - 585205 COSM324214 c.2197G>T p.E733* Substitution - Nonsense 17:21004206-21004206 - TCGA-EJ-5532-01 COSM1128793 c.1935C>T p.T645T Substitution - coding silent 17:21006949-21006949 - TCGA-D1-A160-01 COSM976562 c.1372C>A p.R458R Substitution - coding silent 17:21015884-21015884 - H1155 COSM1195501 c.1710C>G p.N570K Substitution - Missense 17:21011210-21011210 - TCGA-AX-A063-01 COSM976560 c.1754C>T p.T585M Substitution - Missense 17:21011166-21011166 - KM12 COSM2798747 c.1829G>C p.S610T Substitution - Missense 17:21007937-21007937 - 587346 COSM1232003 c.1436G>C p.G479A Substitution - Missense 17:21015820-21015820 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.462492 17p11.2 612116

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG - Frameshift p.L465Vfs*5 c.1393_1394delCT 17 20907656 LUSC A G Synonymous p.H93H c.279T>C 17 20931880 CLL C A Missense p.R176L c.527G>T 17 20921418 CM C A Nonsense p.E511* c.1531G>T 17 20907519 SCLC C A Nonsense p.E525* c.1573G>T 17 20906349 LUAD C - Frameshift p.E525Rfs*125 c.1573delG 17 20906349 UCEC C G Missense p.R367P c.1100G>C 17 20914467 UCEC C T Missense p.A128T c.382G>A 17 20924462 HNSC C T Missense p.C383Y c.1148G>A 17 20911265 RCCC C T Missense p.C61Y c.182G>A 17 20931977 GBM C T Missense p.C61Y c.182G>A 17 20931977 PAAD C T Missense p.E92K c.274G>A 17 20931885 BRCA C T Missense p.G174D c.521G>A 17 20921424 STAD G A Missense p.S464F c.1391C>T 17 20907659 CM G A Missense p.T363M c.1088C>T 17 20914479 UCEC G A Synonymous p.F204F c.612C>T 17 20921333 CM G A Synonymous p.F492F c.1476C>T 17 20907574 BRCA G A Synonymous p.F82F c.246C>T 17 20931913 RCCC G A Synonymous p.I190I c.570C>T 17 20921375 STAD G A Synonymous p.L401L c.1201C>T 17 20911212 CM G A Synonymous p.T423T c.1269C>T 17 20910262 PRAD G C Missense p.I381M c.1143C>G 17 20911270 HNSC GG - Frameshift p.L341Efs*47 c.1020_1021delCC 17 20914546 OV G T Synonymous p.R133R c.397C>A 17 20924447 GBM G T Synonymous p.R236R c.706C>A 17 20919197 UCEC T C Missense p.K144R c.431A>G 17 20922486 LUAD - TGCA IntronicInsertion . c.1103+605_1103+606insTGCA 17 20913858 CM T G Missense p.S482R c.1444A>C 17 20907606 STAD