Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 29298304 29298304 + Missense_Mutation SNP C C G TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr17:29298304C>G c.213C>G c.(211-213)caC>caG p.H71Q ACC 17 29298390 29298390 + Missense_Mutation SNP A A G TCGA-OR-A5KS-01A-11D-A30A-10 TCGA-OR-A5KS-10A-01D-A30A-10 g.chr17:29298390A>G c.299A>G c.(298-300)cAc>cGc p.H100R ACC 17 29298390 29298390 + Missense_Mutation SNP A A G TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chr17:29298390A>G c.299A>G c.(298-300)cAc>cGc p.H100R BLCA 17 29311659 29311659 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr17:29311659G>A c.397G>A c.(397-399)Gaa>Aaa p.E133K BLCA 17 29311676 29311676 + Silent SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr17:29311676G>A c.414G>A c.(412-414)ctG>ctA p.L138L BLCA 17 29311734 29311734 + Silent SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr17:29311734C>T c.472C>T c.(472-474)Cta>Tta p.L158L BLCA 17 29311738 29311738 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr17:29311738C>T c.476C>T c.(475-477)tCa>tTa p.S159L BLCA 17 29311758 29311758 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:29311758G>A c.496G>A c.(496-498)Gaa>Aaa p.E166K BLCA 17 29325726 29325726 + Silent SNP G G A TCGA-FD-A5BY-01A-31D-A289-08 TCGA-FD-A5BY-10A-01D-A289-08 g.chr17:29325726G>A c.816G>A c.(814-816)ctG>ctA p.L272L BLCA 17 29325727 29325727 + Missense_Mutation SNP G G A TCGA-FD-A5BY-01A-31D-A289-08 TCGA-FD-A5BY-10A-01D-A289-08 g.chr17:29325727G>A c.817G>A c.(817-819)Gag>Aag p.E273K BLCA 17 29325811 29325811 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr17:29325811C>G c.901C>G c.(901-903)Cag>Gag p.Q301E BRCA 17 29325839 29325839 + Missense_Mutation SNP C C T TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 g.chr17:29325839C>T c.929C>T c.(928-930)tCt>tTt p.S310F BRCA 17 29325889 29325889 + Missense_Mutation SNP G G T TCGA-AN-A0AM-01A-11W-A050-09 TCGA-AN-A0AM-10A-01W-A055-09 g.chr17:29325889G>T c.979G>T c.(979-981)Gtt>Ttt p.V327F BRCA 17 29326194 29326194 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:29326194G>A c.1284G>A c.(1282-1284)aaG>aaA p.K428K CESC 17 29314963 29314963 + Splice_Site SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr17:29314963C>G c.518C>G c.(517-519)gCt>gGt p.A173G COAD 17 29314970 29314970 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr17:29314970T>C c.525T>C c.(523-525)tcT>tcC p.S175S COAD 17 29315123 29315123 + Splice_Site SNP G G T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:29315123G>T c.678G>T c.(676-678)caG>caT p.Q226H COAD 17 29325767 29325767 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:29325767G>A c.857G>A c.(856-858)cGc>cAc p.R286H COAD 17 29326012 29326012 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:29326012C>A c.1102C>A c.(1102-1104)Ctt>Att p.L368I COADREAD 17 29314970 29314970 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr17:29314970T>C c.525T>C c.(523-525)tcT>tcC p.S175S COADREAD 17 29315123 29315123 + Splice_Site SNP G G T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:29315123G>T c.678G>T c.(676-678)caG>caT p.Q226H COADREAD 17 29325767 29325767 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:29325767G>A c.857G>A c.(856-858)cGc>cAc p.R286H COADREAD 17 29326012 29326012 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:29326012C>A c.1102C>A c.(1102-1104)Ctt>Att p.L368I DLBC 17 29326155 29326155 + Missense_Mutation SNP G G T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr17:29326155G>T c.1245G>T c.(1243-1245)tgG>tgT p.W415C GBMLGG 17 29324279 29324279 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:29324279G>A c.699G>A c.(697-699)ccG>ccA p.P233P GBMLGG 17 29325786 29325786 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chr17:29325786G>A c.876G>A c.(874-876)tgG>tgA p.W292* GBMLGG 17 29325990 29325990 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:29325990G>T c.1080G>T c.(1078-1080)tgG>tgT p.W360C HNSC 17 29324271 29324271 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:29324271G>A c.691G>A c.(691-693)Gaa>Aaa p.E231K HNSC 17 29326072 29326072 + Missense_Mutation SNP G G T TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr17:29326072G>T c.1162G>T c.(1162-1164)Gcc>Tcc p.A388S HNSC 17 29326075 29326075 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 g.chr17:29326075T>C c.1165T>C c.(1165-1167)Ttc>Ctc p.F389L KIPAN 17 29311739 29311739 + Silent SNP A A T TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr17:29311739A>T c.477A>T c.(475-477)tcA>tcT p.S159S KIRC 17 29311739 29311739 + Silent SNP A A T TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr17:29311739A>T c.477A>T c.(475-477)tcA>tcT p.S159S LGG 17 29324279 29324279 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:29324279G>A c.699G>A c.(697-699)ccG>ccA p.P233P LGG 17 29325786 29325786 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chr17:29325786G>A c.876G>A c.(874-876)tgG>tgA p.W292* LGG 17 29325990 29325990 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:29325990G>T c.1080G>T c.(1078-1080)tgG>tgT p.W360C LIHC 17 29325716 29325716 + Missense_Mutation SNP C C T TCGA-2Y-A9GX-01A-11D-A382-10 TCGA-2Y-A9GX-10A-01D-A385-10 g.chr17:29325716C>T c.806C>T c.(805-807)tCc>tTc p.S269F LIHC 17 29325932 29325932 + Missense_Mutation SNP G G T TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr17:29325932G>T c.1022G>T c.(1021-1023)gGa>gTa p.G341V LUAD 17 29325909 29325909 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr17:29325909G>A c.999G>A c.(997-999)gaG>gaA p.E333E PAAD 17 29325974 29325984 + Frame_Shift_Del DEL GCCAGCTCTCT GCCAGCTCTCT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr17:29325974_29325984delGCCAGCTCTCT c.1064_1074delGCCAGCTCTCT c.(1063-1074)agccagctctctfs p.SQLS355fs PRAD 17 29325769 29325769 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 g.chr17:29325769C>T c.859C>T c.(859-861)Cca>Tca p.P287S SKCM 17 29325795 29325795 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:29325795G>A c.885G>A c.(883-885)gaG>gaA p.E295E SKCM 17 29325916 29325916 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr17:29325916C>T c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C SKCM 17 29326074 29326074 + Silent SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr17:29326074C>T c.1164C>T c.(1162-1164)gcC>gcT p.A388A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 29325811 29325811 single base substitution C G 3_prime_UTR_variant BLCA-US 17 29325811 29325811 single base substitution C G downstream_gene_variant BLCA-US 17 29325811 29325811 single base substitution C G missense_variant Q301E 901C>G BRCA-EU 17 29291258 29291258 single base substitution T C upstream_gene_variant BRCA-EU 17 29291772 29291772 single base substitution G A upstream_gene_variant BRCA-EU 17 29291862 29291862 single base substitution G A upstream_gene_variant BRCA-EU 17 29291898 29291898 single base substitution C T upstream_gene_variant BRCA-EU 17 29292201 29292201 single base substitution C T upstream_gene_variant BRCA-EU 17 29292701 29292701 single base substitution G C upstream_gene_variant BRCA-EU 17 29294137 29294137 single base substitution C T upstream_gene_variant BRCA-EU 17 29295001 29295001 single base substitution G C upstream_gene_variant BRCA-EU 17 29295385 29295385 single base substitution C A upstream_gene_variant BRCA-EU 17 29296246 29296246 single base substitution G C exon_variant BRCA-EU 17 29296246 29296246 single base substitution G C upstream_gene_variant BRCA-EU 17 29297634 29297634 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 29297634 29297634 single base substitution G A downstream_gene_variant BRCA-EU 17 29297634 29297634 single base substitution G A upstream_gene_variant BRCA-EU 17 29299466 29299466 single base substitution A G downstream_gene_variant BRCA-EU 17 29299466 29299466 single base substitution A G intron_variant BRCA-EU 17 29300460 29300460 single base substitution G A downstream_gene_variant BRCA-EU 17 29300460 29300460 single base substitution G A intron_variant BRCA-EU 17 29301478 29301478 single base substitution G C downstream_gene_variant BRCA-EU 17 29301478 29301478 single base substitution G C intron_variant BRCA-EU 17 29301707 29301707 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 29301707 29301707 insertion of <=200bp - T intron_variant BRCA-EU 17 29302746 29302746 deletion of <=200bp C - intron_variant BRCA-EU 17 29302751 29302751 single base substitution G C intron_variant BRCA-EU 17 29302854 29302854 single base substitution C T intron_variant BRCA-EU 17 29303704 29303704 single base substitution C A intron_variant BRCA-EU 17 29305893 29305893 single base substitution T C intron_variant BRCA-EU 17 29306561 29306561 single base substitution C G intron_variant BRCA-EU 17 29306646 29306646 single base substitution C G intron_variant BRCA-EU 17 29306805 29306805 single base substitution G A intron_variant BRCA-EU 17 29306949 29306949 single base substitution G A intron_variant BRCA-EU 17 29308453 29308453 single base substitution G A intron_variant BRCA-EU 17 29308911 29308911 single base substitution C A intron_variant BRCA-EU 17 29308925 29308925 single base substitution C T intron_variant BRCA-EU 17 29309060 29309060 single base substitution C G intron_variant BRCA-EU 17 29309104 29309104 single base substitution C G intron_variant BRCA-EU 17 29309144 29309144 single base substitution C G intron_variant BRCA-EU 17 29309302 29309302 single base substitution C G intron_variant BRCA-EU 17 29309302 29309302 single base substitution C T intron_variant BRCA-EU 17 29309440 29309440 single base substitution C T intron_variant BRCA-EU 17 29309479 29309479 single base substitution C G intron_variant BRCA-EU 17 29309565 29309565 single base substitution C T intron_variant BRCA-EU 17 29309726 29309726 single base substitution C G intron_variant BRCA-EU 17 29309746 29309746 single base substitution C G intron_variant BRCA-EU 17 29310024 29310024 single base substitution C G intron_variant BRCA-EU 17 29310034 29310034 single base substitution C T intron_variant BRCA-EU 17 29310038 29310038 single base substitution C G intron_variant BRCA-EU 17 29310410 29310410 single base substitution C T intron_variant BRCA-EU 17 29310410 29310410 single base substitution C T upstream_gene_variant BRCA-EU 17 29311457 29311457 single base substitution C T intron_variant BRCA-EU 17 29311457 29311457 single base substitution C T upstream_gene_variant BRCA-EU 17 29312302 29312302 single base substitution A G intron_variant BRCA-EU 17 29312302 29312302 single base substitution A G upstream_gene_variant BRCA-EU 17 29313090 29313090 single base substitution G C intron_variant BRCA-EU 17 29313090 29313090 single base substitution G C upstream_gene_variant BRCA-EU 17 29313193 29313193 single base substitution C T intron_variant BRCA-EU 17 29313193 29313193 single base substitution C T upstream_gene_variant BRCA-EU 17 29313703 29313703 single base substitution A G intron_variant BRCA-EU 17 29313703 29313703 single base substitution A G upstream_gene_variant BRCA-EU 17 29315422 29315422 single base substitution A G intron_variant BRCA-EU 17 29315749 29315749 deletion of <=200bp T - intron_variant BRCA-EU 17 29318134 29318136 deletion of <=200bp AGA - intron_variant BRCA-EU 17 29318188 29318188 deletion of <=200bp T - intron_variant BRCA-EU 17 29319243 29319243 single base substitution C T intron_variant BRCA-EU 17 29319408 29319408 single base substitution G C intron_variant BRCA-EU 17 29321484 29321484 single base substitution C T intron_variant BRCA-EU 17 29321662 29321662 single base substitution T A intron_variant BRCA-EU 17 29321819 29321819 deletion of <=200bp T - intron_variant BRCA-EU 17 29322473 29322473 single base substitution C T intron_variant BRCA-EU 17 29323564 29323564 single base substitution A G intron_variant BRCA-EU 17 29323601 29323601 single base substitution C G intron_variant BRCA-EU 17 29323652 29323652 single base substitution A T intron_variant BRCA-EU 17 29323682 29323682 single base substitution C A intron_variant BRCA-EU 17 29323689 29323689 single base substitution C G intron_variant BRCA-EU 17 29323735 29323735 single base substitution C G intron_variant BRCA-EU 17 29323758 29323758 single base substitution T G intron_variant BRCA-EU 17 29323819 29323819 single base substitution C G intron_variant BRCA-EU 17 29323942 29323942 single base substitution C A intron_variant BRCA-EU 17 29323969 29323969 single base substitution C G intron_variant BRCA-EU 17 29324020 29324020 single base substitution C G intron_variant BRCA-EU 17 29325640 29325640 single base substitution G C downstream_gene_variant BRCA-EU 17 29325640 29325640 single base substitution G C intron_variant BRCA-EU 17 29328165 29328165 single base substitution C A downstream_gene_variant BRCA-EU 17 29328332 29328332 single base substitution C A downstream_gene_variant BRCA-EU 17 29329986 29329986 single base substitution C G downstream_gene_variant BRCA-EU 17 29330099 29330099 single base substitution C T downstream_gene_variant BRCA-EU 17 29330309 29330309 single base substitution C T downstream_gene_variant BRCA-EU 17 29331484 29331484 single base substitution G T downstream_gene_variant BRCA-FR 17 29291772 29291772 single base substitution G A upstream_gene_variant BRCA-FR 17 29291898 29291898 single base substitution C T upstream_gene_variant BRCA-FR 17 29294137 29294137 single base substitution C T upstream_gene_variant BRCA-FR 17 29296411 29296411 single base substitution C G intron_variant BRCA-FR 17 29296411 29296411 single base substitution C G upstream_gene_variant BRCA-FR 17 29304317 29304317 single base substitution C G intron_variant BRCA-FR 17 29308521 29308521 single base substitution A T intron_variant BRCA-FR 17 29328165 29328165 single base substitution C A downstream_gene_variant BRCA-FR 17 29329986 29329986 single base substitution C G downstream_gene_variant BRCA-UK 17 29301937 29301937 single base substitution C T downstream_gene_variant BRCA-UK 17 29301937 29301937 single base substitution C T intron_variant BRCA-UK 17 29306591 29306591 single base substitution C G intron_variant BRCA-UK 17 29320009 29320009 single base substitution C G intron_variant BRCA-UK 17 29331142 29331142 single base substitution G A downstream_gene_variant BRCA-US 17 29325839 29325839 single base substitution C T 3_prime_UTR_variant BRCA-US 17 29325839 29325839 single base substitution C T downstream_gene_variant BRCA-US 17 29325839 29325839 single base substitution C T missense_variant S310F 929C>T BRCA-US 17 29325889 29325889 single base substitution G T 3_prime_UTR_variant BRCA-US 17 29325889 29325889 single base substitution G T downstream_gene_variant BRCA-US 17 29325889 29325889 single base substitution G T missense_variant V327F 979G>T BRCA-US 17 29326194 29326194 single base substitution G A 3_prime_UTR_variant BRCA-US 17 29326194 29326194 single base substitution G A downstream_gene_variant BRCA-US 17 29326194 29326194 single base substitution G A synonymous_variant K428K 1284G>A BTCA-JP 17 29325847 29325847 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 29325847 29325847 single base substitution C T downstream_gene_variant BTCA-JP 17 29325847 29325847 single base substitution C T missense_variant H313Y 937C>T CESC-US 17 29314963 29314963 single base substitution C G intron_variant CESC-US 17 29314963 29314963 single base substitution C G missense_variant A102G 305C>G CESC-US 17 29314963 29314963 single base substitution C G missense_variant A173G 518C>G CESC-US 17 29314963 29314963 single base substitution C G upstream_gene_variant CLLE-ES 17 29295402 29295404 deletion of <=200bp TTC - upstream_gene_variant CLLE-ES 17 29309068 29309068 single base substitution C G intron_variant CLLE-ES 17 29312059 29312059 single base substitution G T intron_variant CLLE-ES 17 29312059 29312059 single base substitution G T upstream_gene_variant CLLE-ES 17 29312828 29312828 single base substitution A G intron_variant CLLE-ES 17 29312828 29312828 single base substitution A G upstream_gene_variant CLLE-ES 17 29322176 29322176 single base substitution C G intron_variant COAD-US 17 29298304 29298304 single base substitution C G downstream_gene_variant COAD-US 17 29298304 29298304 single base substitution C G missense_variant H48Q 144C>G COAD-US 17 29298304 29298304 single base substitution C G missense_variant H71Q 213C>G COAD-US 17 29298451 29298451 single base substitution G T downstream_gene_variant COAD-US 17 29298451 29298451 single base substitution G T synonymous_variant P120P 360G>T COAD-US 17 29298451 29298451 single base substitution G T synonymous_variant P97P 291G>T COAD-US 17 29326012 29326012 single base substitution C A 3_prime_UTR_variant COAD-US 17 29326012 29326012 single base substitution C A downstream_gene_variant COAD-US 17 29326012 29326012 single base substitution C A missense_variant L368I 1102C>A ESAD-UK 17 29291076 29291076 single base substitution G A upstream_gene_variant ESAD-UK 17 29293200 29293200 single base substitution A G upstream_gene_variant ESAD-UK 17 29294066 29294066 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 29299366 29299366 single base substitution C G downstream_gene_variant ESAD-UK 17 29299366 29299366 single base substitution C G intron_variant ESAD-UK 17 29301228 29301228 single base substitution A T downstream_gene_variant ESAD-UK 17 29301228 29301228 single base substitution A T intron_variant ESAD-UK 17 29301270 29301270 single base substitution G T downstream_gene_variant ESAD-UK 17 29301270 29301270 single base substitution G T intron_variant ESAD-UK 17 29302309 29302309 single base substitution C T downstream_gene_variant ESAD-UK 17 29302309 29302309 single base substitution C T intron_variant ESAD-UK 17 29304229 29304229 single base substitution G A intron_variant ESAD-UK 17 29310592 29310592 single base substitution G A intron_variant ESAD-UK 17 29310592 29310592 single base substitution G A upstream_gene_variant ESAD-UK 17 29312028 29312028 single base substitution A G intron_variant ESAD-UK 17 29312028 29312028 single base substitution A G upstream_gene_variant ESAD-UK 17 29312203 29312203 single base substitution C T intron_variant ESAD-UK 17 29312203 29312203 single base substitution C T upstream_gene_variant ESAD-UK 17 29312524 29312524 single base substitution C T intron_variant ESAD-UK 17 29312524 29312524 single base substitution C T upstream_gene_variant ESAD-UK 17 29315270 29315270 single base substitution C T intron_variant ESAD-UK 17 29318280 29318280 single base substitution T C intron_variant ESAD-UK 17 29318628 29318628 single base substitution C T intron_variant ESAD-UK 17 29324896 29324896 single base substitution G A downstream_gene_variant ESAD-UK 17 29324896 29324896 single base substitution G A intron_variant ESAD-UK 17 29329732 29329732 single base substitution A C downstream_gene_variant ESAD-UK 17 29331722 29331722 single base substitution G A downstream_gene_variant ESCA-CN 17 29314983 29314983 single base substitution C G intron_variant ESCA-CN 17 29314983 29314983 single base substitution C G missense_variant L109V 325C>G ESCA-CN 17 29314983 29314983 single base substitution C G missense_variant L180V 538C>G ESCA-CN 17 29314983 29314983 single base substitution C G upstream_gene_variant KIRC-US 17 29311739 29311739 single base substitution A T intron_variant KIRC-US 17 29311739 29311739 single base substitution A T synonymous_variant S159S 477A>T KIRC-US 17 29311739 29311739 single base substitution A T upstream_gene_variant LAML-KR 17 29306674 29306674 single base substitution G T intron_variant LAML-KR 17 29307386 29307386 single base substitution G A intron_variant LAML-KR 17 29311509 29311509 single base substitution T G intron_variant LAML-KR 17 29311509 29311509 single base substitution T G upstream_gene_variant LAML-KR 17 29323127 29323127 single base substitution G T intron_variant LICA-FR 17 29298252 29298252 single base substitution C A downstream_gene_variant LICA-FR 17 29298252 29298252 single base substitution C A missense_variant A31D 92C>A LICA-FR 17 29298252 29298252 single base substitution C A missense_variant A54D 161C>A LICA-FR 17 29299831 29299831 single base substitution G T downstream_gene_variant LICA-FR 17 29299831 29299831 single base substitution G T intron_variant LICA-FR 17 29306295 29306295 single base substitution A G intron_variant LICA-FR 17 29306955 29306955 single base substitution G A intron_variant LICA-FR 17 29331776 29331776 single base substitution G T downstream_gene_variant LIHC-US 17 29325932 29325932 single base substitution G T 3_prime_UTR_variant LIHC-US 17 29325932 29325932 single base substitution G T downstream_gene_variant LIHC-US 17 29325932 29325932 single base substitution G T missense_variant G341V 1022G>T LIHC-US 17 29326075 29326075 single base substitution T C 3_prime_UTR_variant LIHC-US 17 29326075 29326075 single base substitution T C downstream_gene_variant LIHC-US 17 29326075 29326075 single base substitution T C missense_variant F389L 1165T>C LIHC-US 17 29326154 29326154 single base substitution G T 3_prime_UTR_variant LIHC-US 17 29326154 29326154 single base substitution G T downstream_gene_variant LIHC-US 17 29326154 29326154 single base substitution G T missense_variant W415L 1244G>T LINC-JP 17 29299307 29299307 single base substitution T A downstream_gene_variant LINC-JP 17 29299307 29299307 single base substitution T A intron_variant LINC-JP 17 29304152 29304152 single base substitution G A intron_variant LINC-JP 17 29310886 29310886 single base substitution A G intron_variant LINC-JP 17 29310886 29310886 single base substitution A G upstream_gene_variant LINC-JP 17 29313735 29313735 single base substitution G A intron_variant LINC-JP 17 29313735 29313735 single base substitution G A upstream_gene_variant LINC-JP 17 29315025 29315025 single base substitution G T intron_variant LINC-JP 17 29315025 29315025 single base substitution G T missense_variant A123S 367G>T LINC-JP 17 29315025 29315025 single base substitution G T missense_variant A194S 580G>T LINC-JP 17 29315025 29315025 single base substitution G T upstream_gene_variant LINC-JP 17 29318188 29318188 single base substitution T C intron_variant LINC-JP 17 29325644 29325644 single base substitution G A downstream_gene_variant LINC-JP 17 29325644 29325644 single base substitution G A intron_variant LINC-JP 17 29325746 29325746 single base substitution G A 3_prime_UTR_variant LINC-JP 17 29325746 29325746 single base substitution G A downstream_gene_variant LINC-JP 17 29325746 29325746 single base substitution G A missense_variant R279H 836G>A LIRI-JP 17 29293815 29293815 single base substitution G A upstream_gene_variant LIRI-JP 17 29298032 29298032 single base substitution G A 5_prime_UTR_variant LIRI-JP 17 29298032 29298032 single base substitution G A downstream_gene_variant LIRI-JP 17 29298032 29298032 single base substitution G A upstream_gene_variant LIRI-JP 17 29299427 29299427 single base substitution C G downstream_gene_variant LIRI-JP 17 29299427 29299427 single base substitution C G intron_variant LIRI-JP 17 29303130 29303130 single base substitution T C intron_variant LIRI-JP 17 29305107 29305107 single base substitution A G intron_variant LIRI-JP 17 29316502 29316502 single base substitution T A intron_variant LIRI-JP 17 29318504 29318504 single base substitution G A intron_variant LIRI-JP 17 29319164 29319164 single base substitution G A intron_variant LIRI-JP 17 29320802 29320802 single base substitution T G intron_variant LIRI-JP 17 29321372 29321372 single base substitution G A intron_variant LIRI-JP 17 29321993 29321993 single base substitution C G intron_variant LIRI-JP 17 29322619 29322619 single base substitution C A intron_variant LIRI-JP 17 29323960 29323960 single base substitution A G intron_variant LIRI-JP 17 29325329 29325329 single base substitution G A downstream_gene_variant LIRI-JP 17 29325329 29325329 single base substitution G A intron_variant LIRI-JP 17 29326556 29326556 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 29326556 29326556 single base substitution A G downstream_gene_variant LUSC-KR 17 29293338 29293338 single base substitution C G upstream_gene_variant LUSC-KR 17 29293914 29293914 single base substitution C T upstream_gene_variant LUSC-KR 17 29298418 29298418 single base substitution C G downstream_gene_variant LUSC-KR 17 29298418 29298418 single base substitution C G synonymous_variant L109L 327C>G LUSC-KR 17 29298418 29298418 single base substitution C G synonymous_variant L86L 258C>G LUSC-KR 17 29300022 29300022 single base substitution G C downstream_gene_variant LUSC-KR 17 29300022 29300022 single base substitution G C intron_variant LUSC-KR 17 29306178 29306178 single base substitution C T intron_variant LUSC-KR 17 29306205 29306205 single base substitution G A intron_variant LUSC-KR 17 29306267 29306267 single base substitution C A intron_variant LUSC-KR 17 29307386 29307386 single base substitution G A intron_variant LUSC-KR 17 29307493 29307493 single base substitution A C intron_variant LUSC-KR 17 29307629 29307629 single base substitution C T intron_variant LUSC-KR 17 29307825 29307825 single base substitution T C intron_variant LUSC-KR 17 29308233 29308233 single base substitution T G intron_variant LUSC-KR 17 29313427 29313427 single base substitution C G intron_variant LUSC-KR 17 29313427 29313427 single base substitution C G upstream_gene_variant LUSC-KR 17 29316741 29316741 single base substitution A T intron_variant MALY-DE 17 29294298 29294298 single base substitution T G upstream_gene_variant MALY-DE 17 29296361 29296364 deletion of <=200bp ATCA - intron_variant MALY-DE 17 29296361 29296364 deletion of <=200bp ATCA - upstream_gene_variant MALY-DE 17 29298652 29298652 single base substitution A G downstream_gene_variant MALY-DE 17 29298652 29298652 single base substitution A G intron_variant MALY-DE 17 29298923 29298923 single base substitution C A downstream_gene_variant MALY-DE 17 29298923 29298923 single base substitution C A intron_variant MALY-DE 17 29310674 29310674 single base substitution T C intron_variant MALY-DE 17 29310674 29310674 single base substitution T C upstream_gene_variant MELA-AU 17 29290938 29290938 single base substitution G A upstream_gene_variant MELA-AU 17 29291056 29291056 single base substitution G A upstream_gene_variant MELA-AU 17 29291074 29291074 single base substitution C T upstream_gene_variant MELA-AU 17 29291230 29291230 single base substitution A G upstream_gene_variant MELA-AU 17 29291669 29291669 single base substitution C T upstream_gene_variant MELA-AU 17 29292046 29292046 single base substitution G A upstream_gene_variant MELA-AU 17 29292800 29292800 single base substitution G A upstream_gene_variant MELA-AU 17 29293140 29293140 single base substitution C T upstream_gene_variant MELA-AU 17 29293246 29293246 single base substitution G A upstream_gene_variant MELA-AU 17 29293350 29293350 single base substitution G A upstream_gene_variant MELA-AU 17 29293409 29293409 single base substitution T A upstream_gene_variant MELA-AU 17 29293770 29293770 single base substitution G A upstream_gene_variant MELA-AU 17 29294244 29294244 single base substitution C T upstream_gene_variant MELA-AU 17 29294290 29294290 single base substitution C T upstream_gene_variant MELA-AU 17 29294520 29294520 single base substitution G A upstream_gene_variant MELA-AU 17 29294541 29294541 single base substitution T A upstream_gene_variant MELA-AU 17 29294631 29294631 single base substitution C T upstream_gene_variant MELA-AU 17 29294682 29294682 single base substitution G A upstream_gene_variant MELA-AU 17 29294834 29294834 single base substitution C T upstream_gene_variant MELA-AU 17 29294842 29294842 single base substitution C T upstream_gene_variant MELA-AU 17 29294953 29294953 single base substitution G A upstream_gene_variant MELA-AU 17 29295255 29295255 single base substitution G A upstream_gene_variant MELA-AU 17 29295337 29295337 single base substitution G A upstream_gene_variant MELA-AU 17 29295701 29295701 single base substitution C G upstream_gene_variant MELA-AU 17 29295716 29295716 single base substitution C T upstream_gene_variant MELA-AU 17 29295921 29295921 single base substitution C T exon_variant MELA-AU 17 29295921 29295921 single base substitution C T upstream_gene_variant MELA-AU 17 29296154 29296154 single base substitution C T exon_variant MELA-AU 17 29296154 29296154 single base substitution C T upstream_gene_variant MELA-AU 17 29296868 29296868 single base substitution C T intron_variant MELA-AU 17 29296868 29296868 single base substitution C T upstream_gene_variant MELA-AU 17 29299330 29299330 single base substitution C T downstream_gene_variant MELA-AU 17 29299330 29299330 single base substitution C T intron_variant MELA-AU 17 29299331 29299331 single base substitution C T downstream_gene_variant MELA-AU 17 29299331 29299331 single base substitution C T intron_variant MELA-AU 17 29299606 29299606 single base substitution T A downstream_gene_variant MELA-AU 17 29299606 29299606 single base substitution T A intron_variant MELA-AU 17 29299770 29299770 single base substitution C T downstream_gene_variant MELA-AU 17 29299770 29299770 single base substitution C T intron_variant MELA-AU 17 29300633 29300633 single base substitution C T downstream_gene_variant MELA-AU 17 29300633 29300633 single base substitution C T intron_variant MELA-AU 17 29301706 29301706 single base substitution A T downstream_gene_variant MELA-AU 17 29301706 29301706 single base substitution A T intron_variant MELA-AU 17 29301835 29301835 single base substitution T C downstream_gene_variant MELA-AU 17 29301835 29301835 single base substitution T C intron_variant MELA-AU 17 29302264 29302264 single base substitution C T downstream_gene_variant MELA-AU 17 29302264 29302264 single base substitution C T intron_variant MELA-AU 17 29302265 29302265 single base substitution C T downstream_gene_variant MELA-AU 17 29302265 29302265 single base substitution C T intron_variant MELA-AU 17 29302853 29302853 single base substitution C T intron_variant MELA-AU 17 29303055 29303055 single base substitution C T intron_variant MELA-AU 17 29303220 29303220 single base substitution C T intron_variant MELA-AU 17 29303475 29303475 single base substitution C T intron_variant MELA-AU 17 29304270 29304270 single base substitution C T intron_variant MELA-AU 17 29305048 29305048 single base substitution C T intron_variant MELA-AU 17 29306685 29306685 single base substitution C T intron_variant MELA-AU 17 29306788 29306788 single base substitution C T intron_variant MELA-AU 17 29306793 29306793 single base substitution C T intron_variant MELA-AU 17 29306797 29306797 single base substitution C T intron_variant MELA-AU 17 29306805 29306805 single base substitution G A intron_variant MELA-AU 17 29307127 29307128 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 29308519 29308519 single base substitution G A intron_variant MELA-AU 17 29308726 29308726 single base substitution C T intron_variant MELA-AU 17 29308784 29308784 single base substitution C T intron_variant MELA-AU 17 29308888 29308888 single base substitution C T intron_variant MELA-AU 17 29308909 29308909 single base substitution C T intron_variant MELA-AU 17 29310733 29310733 single base substitution A G intron_variant MELA-AU 17 29310733 29310733 single base substitution A G upstream_gene_variant MELA-AU 17 29312025 29312025 single base substitution A T intron_variant MELA-AU 17 29312025 29312025 single base substitution A T upstream_gene_variant MELA-AU 17 29312800 29312800 single base substitution C T intron_variant MELA-AU 17 29312800 29312800 single base substitution C T upstream_gene_variant MELA-AU 17 29313210 29313210 single base substitution C T intron_variant MELA-AU 17 29313210 29313210 single base substitution C T upstream_gene_variant MELA-AU 17 29313600 29313600 single base substitution C T intron_variant MELA-AU 17 29313600 29313600 single base substitution C T upstream_gene_variant MELA-AU 17 29314285 29314285 single base substitution C T intron_variant MELA-AU 17 29314285 29314285 single base substitution C T upstream_gene_variant MELA-AU 17 29314669 29314669 single base substitution C T intron_variant MELA-AU 17 29314669 29314669 single base substitution C T upstream_gene_variant MELA-AU 17 29314998 29314998 single base substitution C T intron_variant MELA-AU 17 29314998 29314998 single base substitution C T missense_variant P114S 340C>T MELA-AU 17 29314998 29314998 single base substitution C T missense_variant P185S 553C>T MELA-AU 17 29314998 29314998 single base substitution C T upstream_gene_variant MELA-AU 17 29316009 29316009 single base substitution C A intron_variant MELA-AU 17 29316057 29316057 single base substitution C T intron_variant MELA-AU 17 29316175 29316175 single base substitution G A intron_variant MELA-AU 17 29317238 29317238 single base substitution C T intron_variant MELA-AU 17 29318080 29318080 single base substitution G A intron_variant MELA-AU 17 29318270 29318270 single base substitution A T intron_variant MELA-AU 17 29318557 29318557 single base substitution C G intron_variant MELA-AU 17 29318617 29318617 single base substitution A T intron_variant MELA-AU 17 29318726 29318727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 29319144 29319144 single base substitution T C intron_variant MELA-AU 17 29319903 29319903 single base substitution C T intron_variant MELA-AU 17 29320226 29320227 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 29320358 29320358 single base substitution G A intron_variant MELA-AU 17 29320783 29320783 single base substitution C T intron_variant MELA-AU 17 29320945 29320945 single base substitution C T intron_variant MELA-AU 17 29321246 29321246 single base substitution T A intron_variant MELA-AU 17 29321323 29321323 single base substitution G A intron_variant MELA-AU 17 29321444 29321444 single base substitution C T intron_variant MELA-AU 17 29321854 29321854 single base substitution C T intron_variant MELA-AU 17 29321970 29321970 single base substitution T C intron_variant MELA-AU 17 29322644 29322644 single base substitution T C intron_variant MELA-AU 17 29323556 29323556 single base substitution C T intron_variant MELA-AU 17 29324067 29324067 single base substitution C T intron_variant MELA-AU 17 29324174 29324174 single base substitution C T intron_variant MELA-AU 17 29325152 29325152 single base substitution C T downstream_gene_variant MELA-AU 17 29325152 29325152 single base substitution C T intron_variant MELA-AU 17 29325190 29325190 single base substitution A G downstream_gene_variant MELA-AU 17 29325190 29325190 single base substitution A G intron_variant MELA-AU 17 29326312 29326312 single base substitution G A 3_prime_UTR_variant MELA-AU 17 29326312 29326312 single base substitution G A downstream_gene_variant MELA-AU 17 29326391 29326391 single base substitution C T 3_prime_UTR_variant MELA-AU 17 29326391 29326391 single base substitution C T downstream_gene_variant MELA-AU 17 29326808 29326808 single base substitution G A 3_prime_UTR_variant MELA-AU 17 29326808 29326808 single base substitution G A downstream_gene_variant MELA-AU 17 29326966 29326966 single base substitution T C downstream_gene_variant MELA-AU 17 29327076 29327076 single base substitution T C downstream_gene_variant MELA-AU 17 29327613 29327613 single base substitution C T downstream_gene_variant MELA-AU 17 29329637 29329637 single base substitution C T downstream_gene_variant MELA-AU 17 29330012 29330012 deletion of <=200bp T - downstream_gene_variant MELA-AU 17 29330428 29330431 deletion of <=200bp AAAT - downstream_gene_variant MELA-AU 17 29330848 29330848 single base substitution G A downstream_gene_variant MELA-AU 17 29331325 29331325 insertion of <=200bp - AG downstream_gene_variant ORCA-IN 17 29320086 29320086 single base substitution T A intron_variant ORCA-IN 17 29327613 29327613 single base substitution C G downstream_gene_variant OV-AU 17 29296372 29296372 single base substitution T G intron_variant OV-AU 17 29296372 29296372 single base substitution T G upstream_gene_variant OV-AU 17 29310591 29310591 single base substitution C G intron_variant OV-AU 17 29310591 29310591 single base substitution C G upstream_gene_variant OV-AU 17 29322240 29322240 single base substitution C G intron_variant PACA-AU 17 29296067 29296067 single base substitution C T exon_variant PACA-AU 17 29296067 29296067 single base substitution C T upstream_gene_variant PACA-AU 17 29303287 29303287 single base substitution G A intron_variant PACA-AU 17 29306741 29306741 single base substitution A C intron_variant PACA-AU 17 29306785 29306785 single base substitution C T intron_variant PACA-AU 17 29306789 29306789 single base substitution T C intron_variant PACA-AU 17 29308709 29308711 deletion of <=200bp CTT - intron_variant PACA-AU 17 29315088 29315088 single base substitution G A intron_variant PACA-AU 17 29315088 29315088 single base substitution G A missense_variant V144I 430G>A PACA-AU 17 29315088 29315088 single base substitution G A missense_variant V215I 643G>A PACA-AU 17 29315088 29315088 single base substitution G A upstream_gene_variant PACA-AU 17 29315946 29315946 single base substitution T C intron_variant PACA-AU 17 29322066 29322066 single base substitution C A intron_variant PACA-AU 17 29322354 29322354 single base substitution T C intron_variant PACA-AU 17 29327311 29327311 single base substitution A C downstream_gene_variant PACA-AU 17 29328731 29328731 single base substitution C T downstream_gene_variant PACA-CA 17 29292111 29292111 single base substitution T C upstream_gene_variant PACA-CA 17 29292223 29292223 single base substitution G A upstream_gene_variant PACA-CA 17 29293758 29293758 single base substitution C T upstream_gene_variant PACA-CA 17 29293819 29293819 single base substitution G A upstream_gene_variant PACA-CA 17 29295570 29295570 insertion of <=200bp - T upstream_gene_variant PACA-CA 17 29298101 29298101 single base substitution C T downstream_gene_variant PACA-CA 17 29298101 29298101 single base substitution C T synonymous_variant L4L 10C>T PACA-CA 17 29298101 29298101 single base substitution C T upstream_gene_variant PACA-CA 17 29300575 29300575 single base substitution T C downstream_gene_variant PACA-CA 17 29300575 29300575 single base substitution T C intron_variant PACA-CA 17 29301706 29301706 single base substitution A T downstream_gene_variant PACA-CA 17 29301706 29301706 single base substitution A T intron_variant PACA-CA 17 29303016 29303016 deletion of <=200bp A - intron_variant PACA-CA 17 29312032 29312032 single base substitution T A intron_variant PACA-CA 17 29312032 29312032 single base substitution T A upstream_gene_variant PACA-CA 17 29313021 29313021 single base substitution C T intron_variant PACA-CA 17 29313021 29313021 single base substitution C T upstream_gene_variant PACA-CA 17 29314739 29314739 single base substitution C A intron_variant PACA-CA 17 29314739 29314739 single base substitution C A upstream_gene_variant PACA-CA 17 29316169 29316169 single base substitution C G intron_variant PACA-CA 17 29316504 29316504 single base substitution C A intron_variant PACA-CA 17 29320935 29320935 single base substitution C T intron_variant PACA-CA 17 29324646 29324646 single base substitution A T downstream_gene_variant PACA-CA 17 29324646 29324646 single base substitution A T intron_variant PACA-CA 17 29325995 29325995 single base substitution T C 3_prime_UTR_variant PACA-CA 17 29325995 29325995 single base substitution T C downstream_gene_variant PACA-CA 17 29325995 29325995 single base substitution T C missense_variant M362T 1085T>C PACA-CA 17 29327541 29327541 single base substitution C T downstream_gene_variant PACA-CA 17 29328049 29328049 single base substitution G A downstream_gene_variant PAEN-AU 17 29301782 29301782 single base substitution C A downstream_gene_variant PAEN-AU 17 29301782 29301782 single base substitution C A intron_variant PAEN-AU 17 29322337 29322337 single base substitution T G intron_variant PBCA-DE 17 29295150 29295150 insertion of <=200bp - TG upstream_gene_variant PBCA-DE 17 29295152 29295152 deletion of <=200bp C - upstream_gene_variant PBCA-DE 17 29295571 29295571 insertion of <=200bp - T upstream_gene_variant PBCA-DE 17 29303016 29303016 single base substitution A G intron_variant PBCA-DE 17 29319631 29319631 single base substitution G A intron_variant PBCA-DE 17 29326735 29326735 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 29326735 29326735 single base substitution C T downstream_gene_variant PRAD-CA 17 29293562 29293562 single base substitution G C upstream_gene_variant PRAD-CA 17 29301709 29301709 single base substitution T A downstream_gene_variant PRAD-CA 17 29301709 29301709 single base substitution T A intron_variant PRAD-CA 17 29311174 29311174 single base substitution G A intron_variant PRAD-CA 17 29311174 29311174 single base substitution G A upstream_gene_variant PRAD-UK 17 29310967 29310967 single base substitution G A intron_variant PRAD-UK 17 29310967 29310967 single base substitution G A upstream_gene_variant PRAD-US 17 29325769 29325769 single base substitution C T 3_prime_UTR_variant PRAD-US 17 29325769 29325769 single base substitution C T downstream_gene_variant PRAD-US 17 29325769 29325769 single base substitution C T missense_variant P287S 859C>T RECA-EU 17 29315172 29315172 single base substitution G T intron_variant RECA-EU 17 29324764 29324764 single base substitution C T downstream_gene_variant RECA-EU 17 29324764 29324764 single base substitution C T intron_variant SKCA-BR 17 29292140 29292140 single base substitution G A upstream_gene_variant SKCA-BR 17 29294904 29294904 single base substitution C T upstream_gene_variant SKCA-BR 17 29296777 29296777 single base substitution C T intron_variant SKCA-BR 17 29296777 29296777 single base substitution C T upstream_gene_variant SKCA-BR 17 29296781 29296781 single base substitution T C intron_variant SKCA-BR 17 29296781 29296781 single base substitution T C upstream_gene_variant SKCA-BR 17 29297209 29297209 insertion of <=200bp - CT intron_variant SKCA-BR 17 29297209 29297209 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 17 29298102 29298102 single base substitution T C downstream_gene_variant SKCA-BR 17 29298102 29298102 single base substitution T C missense_variant L4P 11T>C SKCA-BR 17 29298102 29298102 single base substitution T C upstream_gene_variant SKCA-BR 17 29298380 29298380 single base substitution G C downstream_gene_variant SKCA-BR 17 29298380 29298380 single base substitution G C missense_variant D74H 220G>C SKCA-BR 17 29298380 29298380 single base substitution G C missense_variant D97H 289G>C SKCA-BR 17 29302629 29302629 single base substitution T A intron_variant SKCA-BR 17 29305013 29305013 single base substitution T C intron_variant SKCA-BR 17 29306267 29306267 single base substitution C A intron_variant SKCA-BR 17 29306891 29306891 single base substitution T C intron_variant SKCA-BR 17 29306895 29306895 single base substitution T C intron_variant SKCA-BR 17 29307239 29307239 single base substitution A C intron_variant SKCA-BR 17 29307246 29307246 single base substitution T C intron_variant SKCA-BR 17 29308272 29308272 single base substitution A G intron_variant SKCA-BR 17 29310373 29310373 single base substitution T A intron_variant SKCA-BR 17 29310373 29310373 single base substitution T A upstream_gene_variant SKCA-BR 17 29310374 29310374 single base substitution T A intron_variant SKCA-BR 17 29310374 29310374 single base substitution T A upstream_gene_variant SKCA-BR 17 29314483 29314483 single base substitution C T intron_variant SKCA-BR 17 29314483 29314483 single base substitution C T upstream_gene_variant SKCA-BR 17 29320944 29320944 single base substitution C T intron_variant SKCA-BR 17 29322071 29322071 single base substitution T C intron_variant SKCA-BR 17 29330427 29330431 deletion of <=200bp AAAAT - downstream_gene_variant SKCA-BR 17 29331016 29331016 insertion of <=200bp - CA downstream_gene_variant SKCM-US 17 29325795 29325795 single base substitution G A 3_prime_UTR_variant SKCM-US 17 29325795 29325795 single base substitution G A downstream_gene_variant SKCM-US 17 29325795 29325795 single base substitution G A synonymous_variant E295E 885G>A SKCM-US 17 29325916 29325916 single base substitution C T 3_prime_UTR_variant SKCM-US 17 29325916 29325916 single base substitution C T downstream_gene_variant SKCM-US 17 29325916 29325916 single base substitution C T missense_variant R336C 1006C>T SKCM-US 17 29326074 29326074 single base substitution C T 3_prime_UTR_variant SKCM-US 17 29326074 29326074 single base substitution C T downstream_gene_variant SKCM-US 17 29326074 29326074 single base substitution C T synonymous_variant A388A 1164C>T UCEC-US 17 29311659 29311659 single base substitution G T intron_variant UCEC-US 17 29311659 29311659 single base substitution G T stop_gained E133* 397G>T UCEC-US 17 29311659 29311659 single base substitution G T upstream_gene_variant UCEC-US 17 29315015 29315015 single base substitution C T intron_variant UCEC-US 17 29315015 29315015 single base substitution C T synonymous_variant S119S 357C>T UCEC-US 17 29315015 29315015 single base substitution C T synonymous_variant S190S 570C>T UCEC-US 17 29315015 29315015 single base substitution C T upstream_gene_variant UCEC-US 17 29324485 29324485 single base substitution G A downstream_gene_variant UCEC-US 17 29324485 29324485 single base substitution G A intron_variant UCEC-US 17 29324485 29324485 single base substitution G A missense_variant R65Q 194G>A UCEC-US 17 29325917 29325917 single base substitution G A 3_prime_UTR_variant UCEC-US 17 29325917 29325917 single base substitution G A downstream_gene_variant UCEC-US 17 29325917 29325917 single base substitution G A missense_variant R336H 1007G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD174T COSM5521393 c.937C>T p.H313Y Substitution - Missense 17:30998829-30998829 + TCGA-GC-A3OO-01 COSM3795434 c.901C>G p.Q301E Substitution - Missense 17:30998793-30998793 + PDA_013 COSM4998688 c.1052G>T p.W351L Substitution - Missense 17:30998944-30998944 + PCSI_0476_Pa_P_526 COSM5031326 c.10C>T p.L4L Substitution - coding silent 17:30971083-30971083 + TCGA-D1-A17H-01 COSM977381 c.570C>T p.S190S Substitution - coding silent 17:30987997-30987997 + 2492729 COSM5726233 c.984G>A p.G328G Substitution - coding silent 17:30998876-30998876 + RMS66_ COSM3755375 c.213C>G p.H71Q Substitution - Missense 17:30971286-30971286 + TCGA-CC-A7IG-01 COSM4942996 c.1022G>T p.G341V Substitution - Missense 17:30998914-30998914 + ESCC_BICR_040T COSM5429931 c.538C>G p.L180V Substitution - Missense 17:30987965-30987965 + 24T COSM107737 c.463C>T p.Q155* Substitution - Nonsense 17:30984707-30984707 + TCGA-AY-6386-01 COSM3755375 c.213C>G p.H71Q Substitution - Missense 17:30971286-30971286 + TCGA-EP-A26S-01 COSM4913657 c.1244G>T p.W415L Substitution - Missense 17:30999136-30999136 + RMS80_ COSM3755375 c.213C>G p.H71Q Substitution - Missense 17:30971286-30971286 + Pat_65_A COSM5852179 c.757C>T p.R253W Substitution - Missense 17:30997319-30997319 + TCGA-B6-A0RH-01 COSM436306 c.929C>T p.S310F Substitution - Missense 17:30998821-30998821 + RH30SJ_ COSM4985128 c.322T>C p.S108P Substitution - Missense 17:30971395-30971395 + TCGA-D5-6928-01 COSM1382006 c.1102C>A p.L368I Substitution - Missense 17:30998994-30998994 + MZ7-mel COSM23474 c.524C>T p.S175F Substitution - Missense 17:30987951-30987951 + 61 COSM5740938 c.783_784insA p.T262fs*3 Insertion - Frameshift 17:30998675-30998676 + ML_55_T_01 COSM5038329 c.289G>C p.D97H Substitution - Missense 17:30971362-30971362 + RMS66_ COSM4985128 c.322T>C p.S108P Substitution - Missense 17:30971395-30971395 + 587342 COSM1223896 c.1274T>C p.L425P Substitution - Missense 17:30999166-30999166 + HCT116 COSM3179514 c.502A>G p.S168G Substitution - Missense 17:30984746-30984746 + TCGA-C5-A1M6-01 COSM214137 c.518C>G p.A173G Substitution - Missense 17:30987945-30987945 + 96-20883 COSM220708 c.345G>T p.R115S Substitution - Missense 17:30971418-30971418 + DLBCL-PatientG COSM220369 c.565A>T p.T189S Substitution - Missense 17:30987992-30987992 + TCGA-CM-6169-01 COSM3755376 c.360G>T p.P120P Substitution - coding silent 17:30971433-30971433 + RH18C COSM3755375 c.213C>G p.H71Q Substitution - Missense 17:30971286-30971286 + PTC-1C COSM3755376 c.360G>T p.P120P Substitution - coding silent 17:30971433-30971433 + TCGA-AP-A056-01 COSM977384 c.1007G>A p.R336H Substitution - Missense 17:30998899-30998899 + RKO COSM3179527 c.914C>T p.S305F Substitution - Missense 17:30998806-30998806 + SNU-175 COSM4650410 c.25G>C p.A9P Substitution - Missense 17:30971098-30971098 + PTC-515C COSM3755376 c.360G>T p.P120P Substitution - coding silent 17:30971433-30971433 + RH30SJ_ COSM3755375 c.213C>G p.H71Q Substitution - Missense 17:30971286-30971286 + TCGA-BP-4807-01 COSM3362066 c.477A>T p.S159S Substitution - coding silent 17:30984721-30984721 + SA053 COSM214137 c.518C>G p.A173G Substitution - Missense 17:30987945-30987945 + Gp2D COSM3179525 c.711A>G p.S237S Substitution - coding silent 17:30997273-30997273 + TCGA-D3-A2JF-06 COSM3515812 c.1006C>T p.R336C Substitution - Missense 17:30998898-30998898 + T2950 COSM4721984 c.244_246delGCC p.A82delA Deletion - In frame 17:30971317-30971319 + CHC1545T COSM4787528 c.161C>A p.A54D Substitution - Missense 17:30971234-30971234 + RH18C COSM4985128 c.322T>C p.S108P Substitution - Missense 17:30971395-30971395 + HX27T COSM3717277 c.580G>T p.A194S Substitution - Missense 17:30988007-30988007 + BN24T COSM1610049 c.836G>A p.R279H Substitution - Missense 17:30998728-30998728 + YULOCUS COSM5386001 c.1220C>T p.S407F Substitution - Missense 17:30999112-30999112 + CSCC-44-T COSM4505615 c.697C>T p.P233S Substitution - Missense 17:30997259-30997259 + CHC1545T COSM4787528 c.161C>A p.A54D Substitution - Missense 17:30971234-30971234 + TCGA-ER-A19M-06 COSM3515813 c.1164C>T p.A388A Substitution - coding silent 17:30999056-30999056 + RMS80_ COSM4985128 c.322T>C p.S108P Substitution - Missense 17:30971395-30971395 + S00932 COSM5662389 c.337G>T p.A113S Substitution - Missense 17:30971410-30971410 + TCGA-G9-6347-01 COSM4393331 c.859C>T p.P287S Substitution - Missense 17:30998751-30998751 + 46M COSM5588820 c.373-1G>T p.? Unknown 17:30984616-30984616 + TCGA-AN-A0AM-01 COSM436307 c.979G>T p.V327F Substitution - Missense 17:30998871-30998871 + BN24 COSM1610049 c.836G>A p.R279H Substitution - Missense 17:30998728-30998728 + TCGA-AA-A00N-01 COSM277082 c.857G>A p.R286H Substitution - Missense 17:30998749-30998749 + Gp5D COSM3179525 c.711A>G p.S237S Substitution - coding silent 17:30997273-30997273 + CSCC-27-T COSM3515812 c.1006C>T p.R336C Substitution - Missense 17:30998898-30998898 + TCGA-G3-A7M9-01 COSM4922637 c.1165T>C p.F389L Substitution - Missense 17:30999057-30999057 + TCGA-AP-A0LM-01 COSM977380 c.397G>T p.E133* Substitution - Nonsense 17:30984641-30984641 + YUDEXA COSM1710086 c.704C>T p.S235F Substitution - Missense 17:30997266-30997266 + PCSI_0090_Pa_X COSM3378122 c.1085T>C p.M362T Substitution - Missense 17:30998977-30998977 + 2492729 COSM5726234 c.1099G>A p.V367I Substitution - Missense 17:30998991-30998991 + TCGA-C4-A0EZ-01 COSM417610 c.397G>A p.E133K Substitution - Missense 17:30984641-30984641 + TCGA-EE-A2GC-06 COSM3515811 c.885G>A p.E295E Substitution - coding silent 17:30998777-30998777 + TCGA-AN-A046-01 COSM3819228 c.1284G>A p.K428K Substitution - coding silent 17:30999176-30999176 + 8035555 COSM3387779 c.643G>A p.V215I Substitution - Missense 17:30988070-30988070 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.29874 17q11.2 611358

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1296+350A>G 17 29326556 HC A T Synonymous p.S159S c.477A>T 17 29311739 RCCC C A 3-UTRSNV . c.1296+49C>A 17 29326255 CM C G IntronicSNV . c.373-2567C>G 17 29309068 CLL C G Missense p.A173G c.518C>G 17 29314963 BRCA C T 3-UTRSNV . c.1296+529C>T 17 29326735 MB C T Missense p.P287S c.859C>T 17 29325769 PRAD C T Missense p.R336C c.1006C>T 17 29325916 CM C T Missense p.S310F c.929C>T 17 29325839 BRCA C T Synonymous p.S190S c.570C>T 17 29315015 UCEC G A Missense p.E133K c.397G>A 17 29311659 BLCA G A Missense p.G328R c.982G>A 17 29325892 CM G A Synonymous p.E295E c.885G>A 17 29325795 CM G A Synonymous p.E333E c.999G>A 17 29325909 LUAD G T Missense p.A388S c.1162G>T 17 29326072 HNSC G T Missense p.Q226H c.678G>T 17 29315123 COREAD G T Missense p.V327F c.979G>T 17 29325889 BRCA T A IntronicSNV . c.372+4545T>A 17 29303008 NSCLC T C Missense p.F389L c.1165T>C 17 29326075 HNSC