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 47295121 47295121 + Silent SNP G G A TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr17:47295121G>A c.306G>A c.(304-306)gaG>gaA p.E102E BLCA 17 47297583 47297583 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr17:47297583C>G c.697C>G c.(697-699)Cca>Gca p.P233A BLCA 17 47299527 47299527 + Missense_Mutation SNP C C A TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr17:47299527C>A c.877C>A c.(877-879)Ccc>Acc p.P293T BRCA 17 47299506 47299506 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr17:47299506G>C c.856G>C c.(856-858)Gat>Cat p.D286H CESC 17 47295176 47295176 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 g.chr17:47295176G>A c.361G>A c.(361-363)Ggc>Agc p.G121S CHOL 17 47299925 47299925 + Missense_Mutation SNP T T C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr17:47299925T>C c.949T>C c.(949-951)Tac>Cac p.Y317H CHOL 17 47299965 47299965 + Missense_Mutation SNP C C A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr17:47299965C>A c.989C>A c.(988-990)tCt>tAt p.S330Y COAD 17 47288173 47288173 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:47288173C>T c.87C>T c.(85-87)gtC>gtT p.V29V COAD 17 47293944 47293944 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:47293944G>A c.169G>A c.(169-171)Gca>Aca p.A57T COAD 17 47295134 47295134 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:47295134A>C c.319A>C c.(319-321)Agg>Cgg p.R107R COAD 17 47299455 47299455 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:47299455G>A c.805G>A c.(805-807)Gaa>Aaa p.E269K COAD 17 47299500 47299500 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:47299500G>T c.850G>T c.(850-852)Gat>Tat p.D284Y COADREAD 17 47288173 47288173 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:47288173C>T c.87C>T c.(85-87)gtC>gtT p.V29V COADREAD 17 47293944 47293944 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:47293944G>A c.169G>A c.(169-171)Gca>Aca p.A57T COADREAD 17 47293951 47293951 + Missense_Mutation SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr17:47293951C>T c.176C>T c.(175-177)gCc>gTc p.A59V COADREAD 17 47295134 47295134 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:47295134A>C c.319A>C c.(319-321)Agg>Cgg p.R107R COADREAD 17 47299455 47299455 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:47299455G>A c.805G>A c.(805-807)Gaa>Aaa p.E269K COADREAD 17 47299500 47299500 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:47299500G>T c.850G>T c.(850-852)Gat>Tat p.D284Y DLBC 17 47295165 47295165 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:47295165G>A c.350G>A c.(349-351)cGg>cAg p.R117Q ESCA 17 47293972 47293972 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:47293972G>A c.197G>A c.(196-198)gGc>gAc p.G66D GBM 17 47297534 47297534 + Silent SNP C C T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 g.chr17:47297534C>T c.648C>T c.(646-648)agC>agT p.S216S GBMLGG 17 47297534 47297534 + Silent SNP C C T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 g.chr17:47297534C>T c.648C>T c.(646-648)agC>agT p.S216S HNSC 17 47299452 47299452 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:47299452G>A c.e7-1 LUAD 17 47293984 47293984 + Missense_Mutation SNP G G T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr17:47293984G>T c.209G>T c.(208-210)gGg>gTg p.G70V LUAD 17 47294040 47294040 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 g.chr17:47294040C>T c.265C>T c.(265-267)Cgt>Tgt p.R89C LUAD 17 47295217 47295217 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:47295217G>T c.402G>T c.(400-402)acG>acT p.T134T LUAD 17 47295236 47295236 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr17:47295236C>A c.421C>A c.(421-423)Ctc>Atc p.L141I LUAD 17 47295250 47295250 + Silent SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr17:47295250C>T c.435C>T c.(433-435)tgC>tgT p.C145C LUAD 17 47297531 47297531 + Splice_Site SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr17:47297531C>T c.645C>T c.(643-645)ggC>ggT p.G215G LUAD 17 47297633 47297633 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:47297633C>A c.747C>A c.(745-747)gcC>gcA p.A249A LUAD 17 47299525 47299525 + Missense_Mutation SNP C C T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr17:47299525C>T c.875C>T c.(874-876)cCa>cTa p.P292L LUAD 17 47299555 47299555 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 g.chr17:47299555C>A c.905C>A c.(904-906)cCc>cAc p.P302H LUAD 17 47299960 47299960 + Silent SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr17:47299960C>A c.984C>A c.(982-984)tcC>tcA p.S328S LUAD 17 47299962 47299962 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr17:47299962T>A c.986T>A c.(985-987)tTc>tAc p.F329Y LUAD 17 47299967 47299967 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 g.chr17:47299967G>A c.991G>A c.(991-993)Gag>Aag p.E331K READ 17 47293951 47293951 + Missense_Mutation SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr17:47293951C>T c.176C>T c.(175-177)gCc>gTc p.A59V SARC 17 47295202 47295202 + Silent SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 g.chr17:47295202C>T c.387C>T c.(385-387)aaC>aaT p.N129N SKCM 17 47293917 47293917 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:47293917G>A c.142G>A c.(142-144)Gag>Aag p.E48K SKCM 17 47294030 47294030 + Silent SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr17:47294030G>A c.255G>A c.(253-255)caG>caA p.Q85Q SKCM 17 47294040 47294040 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr17:47294040C>T c.265C>T c.(265-267)Cgt>Tgt p.R89C SKCM 17 47295174 47295174 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr17:47295174C>T c.359C>T c.(358-360)cCc>cTc p.P120L SKCM 17 47295175 47295175 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr17:47295175C>T c.360C>T c.(358-360)ccC>ccT p.P120P SKCM 17 47295184 47295184 + Silent SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr17:47295184G>A c.369G>A c.(367-369)aaG>aaA p.K123K SKCM 17 47295229 47295229 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:47295229G>A c.414G>A c.(412-414)agG>agA p.R138R SKCM 17 47295266 47295266 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:47295266C>T c.451C>T c.(451-453)Cat>Tat p.H151Y SKCM 17 47296976 47296976 + Silent SNP C C T TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr17:47296976C>T c.537C>T c.(535-537)tcC>tcT p.S179S SKCM 17 47297556 47297556 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr17:47297556C>T c.670C>T c.(670-672)Ccc>Tcc p.P224S SKCM 17 47299475 47299475 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:47299475G>A c.825G>A c.(823-825)ctG>ctA p.L275L SKCM 17 47299496 47299496 + Silent SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:47299496C>T c.846C>T c.(844-846)ccC>ccT p.P282P SKCM 17 47299583 47299583 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:47299583G>A c.933G>A c.(931-933)gaG>gaA p.E311E SKCM 17 47300000 47300000 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:47300000T>A c.1024T>A c.(1024-1026)Tcc>Acc p.S342T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 47301695 47301695 single base substitution C T downstream_gene_variant BLCA-US 17 47284179 47284179 single base substitution G C upstream_gene_variant BLCA-US 17 47302012 47302012 single base substitution G A downstream_gene_variant BRCA-EU 17 47283203 47283203 single base substitution C G upstream_gene_variant BRCA-EU 17 47283357 47283357 single base substitution T C upstream_gene_variant BRCA-EU 17 47283517 47283517 single base substitution C A upstream_gene_variant BRCA-EU 17 47284736 47284736 single base substitution G T upstream_gene_variant BRCA-EU 17 47285692 47285692 single base substitution G A upstream_gene_variant BRCA-EU 17 47286384 47286384 single base substitution G T upstream_gene_variant BRCA-EU 17 47286582 47286582 single base substitution C T upstream_gene_variant BRCA-EU 17 47287933 47287933 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 47288449 47288449 single base substitution C T intron_variant BRCA-EU 17 47290386 47290386 single base substitution C G intron_variant BRCA-EU 17 47291170 47291170 single base substitution T C intron_variant BRCA-EU 17 47292084 47292084 deletion of <=200bp A - intron_variant BRCA-EU 17 47292084 47292084 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 47292266 47292266 single base substitution G C intron_variant BRCA-EU 17 47292266 47292266 single base substitution G C upstream_gene_variant BRCA-EU 17 47292551 47292551 single base substitution G T intron_variant BRCA-EU 17 47292551 47292551 single base substitution G T upstream_gene_variant BRCA-EU 17 47293493 47293493 deletion of <=200bp G - intron_variant BRCA-EU 17 47293493 47293493 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 47293701 47293701 single base substitution G A intron_variant BRCA-EU 17 47293701 47293701 single base substitution G A upstream_gene_variant BRCA-EU 17 47294172 47294172 single base substitution G T intron_variant BRCA-EU 17 47294172 47294172 single base substitution G T upstream_gene_variant BRCA-EU 17 47294591 47294591 single base substitution C T intron_variant BRCA-EU 17 47294591 47294591 single base substitution C T upstream_gene_variant BRCA-EU 17 47296182 47296182 single base substitution G A intron_variant BRCA-EU 17 47296182 47296182 single base substitution G A upstream_gene_variant BRCA-EU 17 47296305 47296305 single base substitution C G intron_variant BRCA-EU 17 47296305 47296305 single base substitution C G upstream_gene_variant BRCA-EU 17 47297726 47297726 single base substitution C T intron_variant BRCA-EU 17 47300888 47300888 single base substitution C T downstream_gene_variant BRCA-EU 17 47302640 47302640 single base substitution C G downstream_gene_variant BRCA-EU 17 47302967 47302967 single base substitution C A downstream_gene_variant BRCA-EU 17 47303248 47303248 single base substitution G C downstream_gene_variant BRCA-EU 17 47303913 47303913 single base substitution G A downstream_gene_variant BRCA-EU 17 47303923 47303923 single base substitution G C downstream_gene_variant BRCA-EU 17 47305295 47305295 single base substitution G C downstream_gene_variant BRCA-FR 17 47283203 47283203 single base substitution C G upstream_gene_variant BRCA-FR 17 47285312 47285312 single base substitution G A upstream_gene_variant BRCA-FR 17 47287933 47287933 single base substitution G A 5_prime_UTR_variant BRCA-FR 17 47288449 47288449 single base substitution C T intron_variant BRCA-FR 17 47290386 47290386 single base substitution C G intron_variant BRCA-FR 17 47293701 47293701 single base substitution G A intron_variant BRCA-FR 17 47293701 47293701 single base substitution G A upstream_gene_variant BRCA-US 17 47299506 47299506 single base substitution G C missense_variant D110H 328G>C BRCA-US 17 47299506 47299506 single base substitution G C missense_variant D131H 391G>C BRCA-US 17 47299506 47299506 single base substitution G C missense_variant D280H 838G>C BRCA-US 17 47299506 47299506 single base substitution G C missense_variant D286H 856G>C BRCA-US 17 47302132 47302132 single base substitution C T downstream_gene_variant BTCA-JP 17 47297353 47297353 single base substitution G T intron_variant BTCA-JP 17 47299791 47299791 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 47299791 47299791 single base substitution G A intron_variant BTCA-JP 17 47299801 47299801 single base substitution A T 3_prime_UTR_variant BTCA-JP 17 47299801 47299801 single base substitution A T intron_variant BTCA-JP 17 47300084 47300084 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 47300084 47300084 single base substitution A G downstream_gene_variant BTCA-JP 17 47304039 47304039 deletion of <=200bp A - downstream_gene_variant CESC-US 17 47295176 47295176 single base substitution G A missense_variant G115S 343G>A CESC-US 17 47295176 47295176 single base substitution G A missense_variant G121S 361G>A CESC-US 17 47295176 47295176 single base substitution G A upstream_gene_variant CESC-US 17 47301946 47301946 single base substitution C T downstream_gene_variant CESC-US 17 47302015 47302015 single base substitution G A downstream_gene_variant CLLE-ES 17 47283235 47283235 single base substitution G A upstream_gene_variant COAD-US 17 47288173 47288173 single base substitution C T synonymous_variant V29V 87C>T COAD-US 17 47295134 47295134 single base substitution A C synonymous_variant R101R 301A>C COAD-US 17 47295134 47295134 single base substitution A C synonymous_variant R107R 319A>C COAD-US 17 47295134 47295134 single base substitution A C upstream_gene_variant COAD-US 17 47295170 47295170 single base substitution C T missense_variant P113S 337C>T COAD-US 17 47295170 47295170 single base substitution C T missense_variant P119S 355C>T COAD-US 17 47295170 47295170 single base substitution C T upstream_gene_variant COAD-US 17 47299500 47299500 single base substitution G T missense_variant D108Y 322G>T COAD-US 17 47299500 47299500 single base substitution G T missense_variant D129Y 385G>T COAD-US 17 47299500 47299500 single base substitution G T missense_variant D278Y 832G>T COAD-US 17 47299500 47299500 single base substitution G T missense_variant D284Y 850G>T COAD-US 17 47300020 47300020 single base substitution C T downstream_gene_variant COAD-US 17 47300020 47300020 single base substitution C T synonymous_variant G172G 516C>T COAD-US 17 47300020 47300020 single base substitution C T synonymous_variant G342G 1026C>T COAD-US 17 47300020 47300020 single base substitution C T synonymous_variant G348G 1044C>T COAD-US 17 47301826 47301826 single base substitution C A downstream_gene_variant COAD-US 17 47301913 47301914 deletion of <=200bp TG - downstream_gene_variant COCA-CN 17 47284212 47284212 single base substitution G A upstream_gene_variant COCA-CN 17 47293848 47293848 single base substitution C T intron_variant COCA-CN 17 47293848 47293848 single base substitution C T upstream_gene_variant COCA-CN 17 47302152 47302152 single base substitution C A downstream_gene_variant COCA-CN 17 47302270 47302270 single base substitution G T downstream_gene_variant COCA-CN 17 47304022 47304022 single base substitution C T downstream_gene_variant COCA-CN 17 47304023 47304023 single base substitution G A downstream_gene_variant ESAD-UK 17 47282930 47282930 single base substitution T G upstream_gene_variant ESAD-UK 17 47283838 47283838 single base substitution C A upstream_gene_variant ESAD-UK 17 47283877 47283877 single base substitution C A upstream_gene_variant ESAD-UK 17 47284659 47284659 single base substitution G T upstream_gene_variant ESAD-UK 17 47285394 47285394 single base substitution G A upstream_gene_variant ESAD-UK 17 47285406 47285406 single base substitution A G upstream_gene_variant ESAD-UK 17 47286361 47286361 single base substitution A C upstream_gene_variant ESAD-UK 17 47286448 47286448 single base substitution G A upstream_gene_variant ESAD-UK 17 47286802 47286802 single base substitution C T upstream_gene_variant ESAD-UK 17 47287165 47287165 single base substitution A C upstream_gene_variant ESAD-UK 17 47289028 47289028 deletion of <=200bp T - intron_variant ESAD-UK 17 47291481 47291481 single base substitution G A intron_variant ESAD-UK 17 47291568 47291568 single base substitution G C intron_variant ESAD-UK 17 47292102 47292102 single base substitution T G intron_variant ESAD-UK 17 47292102 47292102 single base substitution T G upstream_gene_variant ESAD-UK 17 47294644 47294644 single base substitution G C intron_variant ESAD-UK 17 47294644 47294644 single base substitution G C upstream_gene_variant ESAD-UK 17 47295672 47295672 single base substitution C A intron_variant ESAD-UK 17 47295672 47295672 single base substitution C A upstream_gene_variant ESAD-UK 17 47298396 47298396 single base substitution G A intron_variant ESAD-UK 17 47298483 47298483 single base substitution C T intron_variant ESAD-UK 17 47300673 47300673 single base substitution G T downstream_gene_variant ESAD-UK 17 47302313 47302313 single base substitution G A downstream_gene_variant ESAD-UK 17 47303746 47303746 single base substitution C A downstream_gene_variant ESAD-UK 17 47303878 47303878 single base substitution G T downstream_gene_variant ESAD-UK 17 47305580 47305580 single base substitution A G downstream_gene_variant GBM-US 17 47284162 47284162 single base substitution T C upstream_gene_variant GBM-US 17 47284767 47284767 single base substitution G A upstream_gene_variant GBM-US 17 47297534 47297534 single base substitution C T synonymous_variant S210S 630C>T GBM-US 17 47297534 47297534 single base substitution C T synonymous_variant S216S 648C>T GBM-US 17 47297534 47297534 single base substitution C T synonymous_variant S33S 99C>T GBM-US 17 47297534 47297534 single base substitution C T synonymous_variant S54S 162C>T GBM-US 17 47297600 47297600 single base substitution C A synonymous_variant P232P 696C>A GBM-US 17 47297600 47297600 single base substitution C A synonymous_variant P238P 714C>A GBM-US 17 47297600 47297600 single base substitution C A synonymous_variant P55P 165C>A GBM-US 17 47297600 47297600 single base substitution C A synonymous_variant P76P 228C>A KIRP-US 17 47299547 47299547 single base substitution T C synonymous_variant P123P 369T>C KIRP-US 17 47299547 47299547 single base substitution T C synonymous_variant P144P 432T>C KIRP-US 17 47299547 47299547 single base substitution T C synonymous_variant P293P 879T>C KIRP-US 17 47299547 47299547 single base substitution T C synonymous_variant P299P 897T>C KIRP-US 17 47302352 47302352 single base substitution G T downstream_gene_variant LGG-US 17 47302390 47302392 deletion of <=200bp AGG - downstream_gene_variant LICA-CN 17 47299474 47299474 single base substitution T A missense_variant L120Q 359T>A LICA-CN 17 47299474 47299474 single base substitution T A missense_variant L269Q 806T>A LICA-CN 17 47299474 47299474 single base substitution T A missense_variant L275Q 824T>A LICA-CN 17 47299474 47299474 single base substitution T A missense_variant L99Q 296T>A LICA-CN 17 47300029 47300029 single base substitution A T downstream_gene_variant LICA-CN 17 47300029 47300029 single base substitution A T synonymous_variant S175S 525A>T LICA-CN 17 47300029 47300029 single base substitution A T synonymous_variant S345S 1035A>T LICA-CN 17 47300029 47300029 single base substitution A T synonymous_variant S351S 1053A>T LICA-FR 17 47294007 47294007 single base substitution C T synonymous_variant L78L 232C>T LICA-FR 17 47294007 47294007 single base substitution C T upstream_gene_variant LICA-FR 17 47301656 47301656 single base substitution C A downstream_gene_variant LICA-FR 17 47302427 47302427 single base substitution C T downstream_gene_variant LIHC-US 17 47284155 47284155 single base substitution A G upstream_gene_variant LIHC-US 17 47284179 47284179 single base substitution G A upstream_gene_variant LIHC-US 17 47302389 47302389 single base substitution C A downstream_gene_variant LINC-JP 17 47293639 47293639 single base substitution A G intron_variant LINC-JP 17 47293639 47293639 single base substitution A G upstream_gene_variant LINC-JP 17 47295143 47295143 single base substitution G A missense_variant G104S 310G>A LINC-JP 17 47295143 47295143 single base substitution G A missense_variant G110S 328G>A LINC-JP 17 47295143 47295143 single base substitution G A upstream_gene_variant LINC-JP 17 47296428 47296428 single base substitution A C intron_variant LINC-JP 17 47296428 47296428 single base substitution A C upstream_gene_variant LINC-JP 17 47297001 47297001 single base substitution G A intron_variant LINC-JP 17 47297001 47297001 single base substitution G A upstream_gene_variant LINC-JP 17 47300070 47300070 single base substitution G T downstream_gene_variant LINC-JP 17 47300070 47300070 single base substitution G T missense_variant S189I 566G>T LINC-JP 17 47300070 47300070 single base substitution G T missense_variant S359I 1076G>T LINC-JP 17 47300070 47300070 single base substitution G T missense_variant S365I 1094G>T LIRI-JP 17 47283036 47283036 single base substitution T G upstream_gene_variant LIRI-JP 17 47284483 47284483 single base substitution G A upstream_gene_variant LIRI-JP 17 47285349 47285349 single base substitution G A upstream_gene_variant LIRI-JP 17 47285887 47285887 single base substitution A G upstream_gene_variant LIRI-JP 17 47288568 47288568 single base substitution C T intron_variant LIRI-JP 17 47290897 47290897 single base substitution G A intron_variant LIRI-JP 17 47291809 47291809 single base substitution G A intron_variant LIRI-JP 17 47295766 47295766 deletion of <=200bp C - intron_variant LIRI-JP 17 47295766 47295766 deletion of <=200bp C - upstream_gene_variant LIRI-JP 17 47297983 47297983 single base substitution G A intron_variant LIRI-JP 17 47299967 47299967 single base substitution G A downstream_gene_variant LIRI-JP 17 47299967 47299967 single base substitution G A missense_variant E155K 463G>A LIRI-JP 17 47299967 47299967 single base substitution G A missense_variant E325K 973G>A LIRI-JP 17 47299967 47299967 single base substitution G A missense_variant E331K 991G>A LIRI-JP 17 47301111 47301111 single base substitution A G downstream_gene_variant LIRI-JP 17 47303480 47303480 single base substitution G T downstream_gene_variant LUSC-KR 17 47285607 47285607 single base substitution G T upstream_gene_variant LUSC-KR 17 47286747 47286747 single base substitution A G upstream_gene_variant LUSC-KR 17 47293947 47293947 single base substitution C T synonymous_variant L58L 172C>T LUSC-KR 17 47293947 47293947 single base substitution C T upstream_gene_variant LUSC-KR 17 47296997 47296997 single base substitution C T intron_variant LUSC-KR 17 47296997 47296997 single base substitution C T upstream_gene_variant LUSC-KR 17 47297658 47297658 single base substitution A T missense_variant T252S 754A>T LUSC-KR 17 47297658 47297658 single base substitution A T missense_variant T258S 772A>T LUSC-KR 17 47297658 47297658 single base substitution A T missense_variant T75S 223A>T LUSC-KR 17 47297658 47297658 single base substitution A T missense_variant T96S 286A>T LUSC-KR 17 47297978 47297978 single base substitution G A intron_variant MALY-DE 17 47283416 47283416 single base substitution T C upstream_gene_variant MALY-DE 17 47285500 47285500 single base substitution C T upstream_gene_variant MALY-DE 17 47287994 47287994 single base substitution A G 5_prime_UTR_variant MALY-DE 17 47290156 47290156 single base substitution A T intron_variant MALY-DE 17 47290320 47290320 single base substitution C T intron_variant MALY-DE 17 47291680 47291680 single base substitution C T intron_variant MALY-DE 17 47295285 47295285 single base substitution G C splice_region_variant MALY-DE 17 47295285 47295285 single base substitution G C upstream_gene_variant MALY-DE 17 47302218 47302218 single base substitution T C downstream_gene_variant MELA-AU 17 47282699 47282699 single base substitution C T upstream_gene_variant MELA-AU 17 47282797 47282797 single base substitution C T upstream_gene_variant MELA-AU 17 47282801 47282801 single base substitution G A upstream_gene_variant MELA-AU 17 47282912 47282912 single base substitution C T upstream_gene_variant MELA-AU 17 47283145 47283145 single base substitution G A upstream_gene_variant MELA-AU 17 47283178 47283178 single base substitution C T upstream_gene_variant MELA-AU 17 47283276 47283276 single base substitution C T upstream_gene_variant MELA-AU 17 47283290 47283290 single base substitution C T upstream_gene_variant MELA-AU 17 47283502 47283502 single base substitution C T upstream_gene_variant MELA-AU 17 47283581 47283581 single base substitution A G upstream_gene_variant MELA-AU 17 47283687 47283687 single base substitution G A upstream_gene_variant MELA-AU 17 47283727 47283727 single base substitution C T upstream_gene_variant MELA-AU 17 47283767 47283767 single base substitution G A upstream_gene_variant MELA-AU 17 47283845 47283845 single base substitution C T upstream_gene_variant MELA-AU 17 47283939 47283939 single base substitution G A upstream_gene_variant MELA-AU 17 47284074 47284074 single base substitution G A upstream_gene_variant MELA-AU 17 47284153 47284153 single base substitution G A upstream_gene_variant MELA-AU 17 47284226 47284226 single base substitution C T upstream_gene_variant MELA-AU 17 47284293 47284293 single base substitution C T upstream_gene_variant MELA-AU 17 47284660 47284660 single base substitution G A upstream_gene_variant MELA-AU 17 47284665 47284665 single base substitution G A upstream_gene_variant MELA-AU 17 47284670 47284670 single base substitution G A upstream_gene_variant MELA-AU 17 47284702 47284702 single base substitution G A upstream_gene_variant MELA-AU 17 47284745 47284745 single base substitution C T upstream_gene_variant MELA-AU 17 47284803 47284803 single base substitution G A upstream_gene_variant MELA-AU 17 47284982 47284982 single base substitution G A upstream_gene_variant MELA-AU 17 47285210 47285210 single base substitution G A upstream_gene_variant MELA-AU 17 47285212 47285212 single base substitution G A upstream_gene_variant MELA-AU 17 47285253 47285253 single base substitution C G upstream_gene_variant MELA-AU 17 47285331 47285331 single base substitution C T upstream_gene_variant MELA-AU 17 47285428 47285428 single base substitution G A upstream_gene_variant MELA-AU 17 47285806 47285806 single base substitution A T upstream_gene_variant MELA-AU 17 47286229 47286229 single base substitution C T upstream_gene_variant MELA-AU 17 47286316 47286316 single base substitution C T upstream_gene_variant MELA-AU 17 47286570 47286570 single base substitution C T upstream_gene_variant MELA-AU 17 47286595 47286595 single base substitution C T upstream_gene_variant MELA-AU 17 47286595 47286596 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 47286632 47286632 single base substitution C T upstream_gene_variant MELA-AU 17 47286648 47286648 single base substitution C T upstream_gene_variant MELA-AU 17 47286669 47286669 single base substitution T C upstream_gene_variant MELA-AU 17 47286869 47286870 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 47286982 47286982 single base substitution C T upstream_gene_variant MELA-AU 17 47287056 47287056 single base substitution C T upstream_gene_variant MELA-AU 17 47287687 47287687 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47287687 47287687 single base substitution G A upstream_gene_variant MELA-AU 17 47287694 47287694 single base substitution C T 5_prime_UTR_variant MELA-AU 17 47287694 47287694 single base substitution C T upstream_gene_variant MELA-AU 17 47287705 47287706 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 47287705 47287706 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 47287745 47287745 single base substitution C T 5_prime_UTR_variant MELA-AU 17 47287745 47287745 single base substitution C T upstream_gene_variant MELA-AU 17 47287783 47287783 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47287839 47287839 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47288060 47288060 single base substitution T C 5_prime_UTR_variant MELA-AU 17 47288370 47288370 single base substitution C T intron_variant MELA-AU 17 47288450 47288450 single base substitution G A intron_variant MELA-AU 17 47288454 47288454 single base substitution C T intron_variant MELA-AU 17 47288541 47288541 single base substitution G A intron_variant MELA-AU 17 47288725 47288725 single base substitution G A intron_variant MELA-AU 17 47288767 47288767 single base substitution G A intron_variant MELA-AU 17 47288772 47288773 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 47288919 47288919 single base substitution T C intron_variant MELA-AU 17 47289036 47289036 single base substitution C T intron_variant MELA-AU 17 47289095 47289095 single base substitution C A intron_variant MELA-AU 17 47289114 47289114 single base substitution C A intron_variant MELA-AU 17 47289367 47289367 single base substitution G A intron_variant MELA-AU 17 47289404 47289404 single base substitution C T intron_variant MELA-AU 17 47289437 47289437 single base substitution C T intron_variant MELA-AU 17 47289549 47289549 single base substitution C T intron_variant MELA-AU 17 47289619 47289619 single base substitution C T intron_variant MELA-AU 17 47289639 47289639 single base substitution T A intron_variant MELA-AU 17 47289644 47289644 single base substitution C T intron_variant MELA-AU 17 47289789 47289789 single base substitution C T intron_variant MELA-AU 17 47289882 47289882 single base substitution G A intron_variant MELA-AU 17 47289997 47289997 single base substitution G A intron_variant MELA-AU 17 47290123 47290123 single base substitution C T intron_variant MELA-AU 17 47290158 47290158 single base substitution C T intron_variant MELA-AU 17 47290240 47290240 single base substitution G A intron_variant MELA-AU 17 47290267 47290267 single base substitution G A intron_variant MELA-AU 17 47290586 47290586 single base substitution G A intron_variant MELA-AU 17 47290885 47290885 single base substitution G A intron_variant MELA-AU 17 47291264 47291264 single base substitution C T intron_variant MELA-AU 17 47291390 47291390 single base substitution G A intron_variant MELA-AU 17 47291402 47291402 single base substitution C T intron_variant MELA-AU 17 47291639 47291639 single base substitution C T intron_variant MELA-AU 17 47292082 47292082 single base substitution A G intron_variant MELA-AU 17 47292082 47292082 single base substitution A G upstream_gene_variant MELA-AU 17 47292612 47292612 single base substitution G A intron_variant MELA-AU 17 47292612 47292612 single base substitution G A upstream_gene_variant MELA-AU 17 47292787 47292787 single base substitution G A intron_variant MELA-AU 17 47292787 47292787 single base substitution G A upstream_gene_variant MELA-AU 17 47292905 47292905 single base substitution G A intron_variant MELA-AU 17 47292905 47292905 single base substitution G A upstream_gene_variant MELA-AU 17 47293387 47293387 single base substitution C T intron_variant MELA-AU 17 47293387 47293387 single base substitution C T upstream_gene_variant MELA-AU 17 47293442 47293442 single base substitution C T intron_variant MELA-AU 17 47293442 47293442 single base substitution C T upstream_gene_variant MELA-AU 17 47293564 47293564 single base substitution G A intron_variant MELA-AU 17 47293564 47293564 single base substitution G A upstream_gene_variant MELA-AU 17 47293641 47293641 single base substitution G A intron_variant MELA-AU 17 47293641 47293641 single base substitution G A upstream_gene_variant MELA-AU 17 47293756 47293756 single base substitution C T intron_variant MELA-AU 17 47293756 47293756 single base substitution C T upstream_gene_variant MELA-AU 17 47294034 47294034 single base substitution G A missense_variant E87K 259G>A MELA-AU 17 47294034 47294034 single base substitution G A upstream_gene_variant MELA-AU 17 47294065 47294065 single base substitution G A intron_variant MELA-AU 17 47294065 47294065 single base substitution G A splice_region_variant MELA-AU 17 47294065 47294065 single base substitution G A upstream_gene_variant MELA-AU 17 47294506 47294506 single base substitution C T intron_variant MELA-AU 17 47294506 47294506 single base substitution C T upstream_gene_variant MELA-AU 17 47294536 47294537 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 17 47294536 47294537 multiple base substitution (>=2bp and <=200bp) TG AT upstream_gene_variant MELA-AU 17 47294603 47294603 single base substitution C T intron_variant MELA-AU 17 47294603 47294603 single base substitution C T upstream_gene_variant MELA-AU 17 47294659 47294659 single base substitution C T intron_variant MELA-AU 17 47294659 47294659 single base substitution C T upstream_gene_variant MELA-AU 17 47294744 47294745 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 47294744 47294745 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 47294780 47294780 single base substitution C T intron_variant MELA-AU 17 47294780 47294780 single base substitution C T upstream_gene_variant MELA-AU 17 47295042 47295042 single base substitution G A intron_variant MELA-AU 17 47295042 47295042 single base substitution G A upstream_gene_variant MELA-AU 17 47295253 47295253 single base substitution G A synonymous_variant L140L 420G>A MELA-AU 17 47295253 47295253 single base substitution G A synonymous_variant L146L 438G>A MELA-AU 17 47295253 47295253 single base substitution G A upstream_gene_variant MELA-AU 17 47295288 47295288 single base substitution G A intron_variant MELA-AU 17 47295288 47295288 single base substitution G A upstream_gene_variant MELA-AU 17 47295302 47295302 single base substitution C T intron_variant MELA-AU 17 47295302 47295302 single base substitution C T upstream_gene_variant MELA-AU 17 47295448 47295448 single base substitution A T intron_variant MELA-AU 17 47295448 47295448 single base substitution A T upstream_gene_variant MELA-AU 17 47295450 47295450 single base substitution C T intron_variant MELA-AU 17 47295450 47295450 single base substitution C T upstream_gene_variant MELA-AU 17 47295575 47295575 single base substitution G A intron_variant MELA-AU 17 47295575 47295575 single base substitution G A upstream_gene_variant MELA-AU 17 47296000 47296000 single base substitution T C intron_variant MELA-AU 17 47296000 47296000 single base substitution T C upstream_gene_variant MELA-AU 17 47296101 47296101 single base substitution G A intron_variant MELA-AU 17 47296101 47296101 single base substitution G A upstream_gene_variant MELA-AU 17 47296399 47296399 single base substitution C T intron_variant MELA-AU 17 47296399 47296399 single base substitution C T upstream_gene_variant MELA-AU 17 47296459 47296459 single base substitution C T intron_variant MELA-AU 17 47296459 47296459 single base substitution C T upstream_gene_variant MELA-AU 17 47296577 47296577 single base substitution G A intron_variant MELA-AU 17 47296577 47296577 single base substitution G A upstream_gene_variant MELA-AU 17 47296578 47296578 single base substitution G A intron_variant MELA-AU 17 47296578 47296578 single base substitution G A upstream_gene_variant MELA-AU 17 47296619 47296619 single base substitution G A intron_variant MELA-AU 17 47296619 47296619 single base substitution G A upstream_gene_variant MELA-AU 17 47296800 47296800 single base substitution C T intron_variant MELA-AU 17 47296800 47296800 single base substitution C T upstream_gene_variant MELA-AU 17 47296832 47296832 single base substitution C T intron_variant MELA-AU 17 47296832 47296832 single base substitution C T upstream_gene_variant MELA-AU 17 47296982 47296982 single base substitution C T synonymous_variant T175T 525C>T MELA-AU 17 47296982 47296982 single base substitution C T synonymous_variant T181T 543C>T MELA-AU 17 47296982 47296982 single base substitution C T synonymous_variant T19T 57C>T MELA-AU 17 47296982 47296982 single base substitution C T upstream_gene_variant MELA-AU 17 47297050 47297050 single base substitution C T intron_variant MELA-AU 17 47297050 47297050 single base substitution C T upstream_gene_variant MELA-AU 17 47297598 47297598 single base substitution C T missense_variant P232S 694C>T MELA-AU 17 47297598 47297598 single base substitution C T missense_variant P238S 712C>T MELA-AU 17 47297598 47297598 single base substitution C T missense_variant P55S 163C>T MELA-AU 17 47297598 47297598 single base substitution C T missense_variant P76S 226C>T MELA-AU 17 47297726 47297726 single base substitution C T intron_variant MELA-AU 17 47297853 47297853 single base substitution A C intron_variant MELA-AU 17 47297887 47297887 single base substitution G A intron_variant MELA-AU 17 47297900 47297900 single base substitution C T intron_variant MELA-AU 17 47297983 47297983 single base substitution G A intron_variant MELA-AU 17 47297986 47297986 single base substitution C T intron_variant MELA-AU 17 47298004 47298004 single base substitution C T intron_variant MELA-AU 17 47298120 47298120 single base substitution C T intron_variant MELA-AU 17 47298138 47298138 single base substitution G A intron_variant MELA-AU 17 47298419 47298419 single base substitution C T intron_variant MELA-AU 17 47298503 47298503 single base substitution C T intron_variant MELA-AU 17 47298522 47298522 single base substitution G A intron_variant MELA-AU 17 47298628 47298628 single base substitution C T intron_variant MELA-AU 17 47298703 47298703 single base substitution G A intron_variant MELA-AU 17 47298787 47298787 single base substitution C T intron_variant MELA-AU 17 47298801 47298801 single base substitution C T intron_variant MELA-AU 17 47298981 47298981 single base substitution G A intron_variant MELA-AU 17 47299445 47299445 single base substitution C T splice_region_variant MELA-AU 17 47299445 47299445 single base substitution C T synonymous_variant F110F 330C>T MELA-AU 17 47299445 47299445 single base substitution C T synonymous_variant F89F 267C>T MELA-AU 17 47299491 47299491 single base substitution C T missense_variant P105S 313C>T MELA-AU 17 47299491 47299491 single base substitution C T missense_variant P126S 376C>T MELA-AU 17 47299491 47299491 single base substitution C T missense_variant P275S 823C>T MELA-AU 17 47299491 47299491 single base substitution C T missense_variant P281S 841C>T MELA-AU 17 47299537 47299537 single base substitution G A missense_variant G120E 359G>A MELA-AU 17 47299537 47299537 single base substitution G A missense_variant G141E 422G>A MELA-AU 17 47299537 47299537 single base substitution G A missense_variant G290E 869G>A MELA-AU 17 47299537 47299537 single base substitution G A missense_variant G296E 887G>A MELA-AU 17 47299609 47299609 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47299609 47299609 single base substitution G A intron_variant MELA-AU 17 47299660 47299660 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47299660 47299660 single base substitution C T intron_variant MELA-AU 17 47299681 47299681 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47299681 47299681 single base substitution C T intron_variant MELA-AU 17 47299682 47299682 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47299682 47299682 single base substitution C T intron_variant MELA-AU 17 47299945 47299945 single base substitution G A downstream_gene_variant MELA-AU 17 47299945 47299945 single base substitution G A synonymous_variant K147K 441G>A MELA-AU 17 47299945 47299945 single base substitution G A synonymous_variant K317K 951G>A MELA-AU 17 47299945 47299945 single base substitution G A synonymous_variant K323K 969G>A MELA-AU 17 47300048 47300048 single base substitution C T downstream_gene_variant MELA-AU 17 47300048 47300048 single base substitution C T missense_variant P182S 544C>T MELA-AU 17 47300048 47300048 single base substitution C T missense_variant P352S 1054C>T MELA-AU 17 47300048 47300048 single base substitution C T missense_variant P358S 1072C>T MELA-AU 17 47300183 47300183 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47300183 47300183 single base substitution G A downstream_gene_variant MELA-AU 17 47300466 47300466 single base substitution A G 3_prime_UTR_variant MELA-AU 17 47300466 47300466 single base substitution A G downstream_gene_variant MELA-AU 17 47300557 47300557 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47300557 47300557 single base substitution C T downstream_gene_variant MELA-AU 17 47300836 47300836 single base substitution G A downstream_gene_variant MELA-AU 17 47300996 47300996 single base substitution G A downstream_gene_variant MELA-AU 17 47301304 47301304 single base substitution C T downstream_gene_variant MELA-AU 17 47301312 47301312 single base substitution G A downstream_gene_variant MELA-AU 17 47301661 47301662 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 47302258 47302258 single base substitution C T downstream_gene_variant MELA-AU 17 47302638 47302638 single base substitution C T downstream_gene_variant MELA-AU 17 47303029 47303029 single base substitution G A downstream_gene_variant MELA-AU 17 47303031 47303031 single base substitution G A downstream_gene_variant MELA-AU 17 47303055 47303055 single base substitution C T downstream_gene_variant MELA-AU 17 47303157 47303157 single base substitution G A downstream_gene_variant MELA-AU 17 47303236 47303236 single base substitution G A downstream_gene_variant MELA-AU 17 47303266 47303266 single base substitution G A downstream_gene_variant MELA-AU 17 47303299 47303299 single base substitution G A downstream_gene_variant MELA-AU 17 47303328 47303328 single base substitution G A downstream_gene_variant MELA-AU 17 47303768 47303768 single base substitution C T downstream_gene_variant MELA-AU 17 47303855 47303855 single base substitution G A downstream_gene_variant MELA-AU 17 47303918 47303918 single base substitution G A downstream_gene_variant MELA-AU 17 47303937 47303937 single base substitution C T downstream_gene_variant MELA-AU 17 47304037 47304037 single base substitution G A downstream_gene_variant MELA-AU 17 47304051 47304051 single base substitution C T downstream_gene_variant MELA-AU 17 47304086 47304086 single base substitution G A downstream_gene_variant MELA-AU 17 47304106 47304106 single base substitution C T downstream_gene_variant MELA-AU 17 47304139 47304139 single base substitution C T downstream_gene_variant MELA-AU 17 47304227 47304227 single base substitution C T downstream_gene_variant MELA-AU 17 47304289 47304289 single base substitution C T downstream_gene_variant MELA-AU 17 47304504 47304504 single base substitution G A downstream_gene_variant MELA-AU 17 47304599 47304599 single base substitution C T downstream_gene_variant MELA-AU 17 47304789 47304790 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 47304872 47304872 single base substitution G A downstream_gene_variant MELA-AU 17 47304966 47304966 single base substitution C T downstream_gene_variant MELA-AU 17 47305259 47305259 single base substitution G A downstream_gene_variant MELA-AU 17 47305269 47305269 single base substitution G A downstream_gene_variant ORCA-IN 17 47293475 47293475 deletion of <=200bp G - intron_variant ORCA-IN 17 47293475 47293475 deletion of <=200bp G - upstream_gene_variant ORCA-IN 17 47297531 47297531 single base substitution C A splice_region_variant ORCA-IN 17 47299483 47299483 single base substitution C A missense_variant P102H 305C>A ORCA-IN 17 47299483 47299483 single base substitution C A missense_variant P123H 368C>A ORCA-IN 17 47299483 47299483 single base substitution C A missense_variant P272H 815C>A ORCA-IN 17 47299483 47299483 single base substitution C A missense_variant P278H 833C>A OV-AU 17 47299322 47299322 single base substitution C T intron_variant PACA-AU 17 47285240 47285253 deletion of <=200bp GGTCTTGGCTGGGC - upstream_gene_variant PACA-AU 17 47289489 47289489 single base substitution A T intron_variant PACA-AU 17 47295217 47295217 single base substitution G A synonymous_variant T128T 384G>A PACA-AU 17 47295217 47295217 single base substitution G A synonymous_variant T134T 402G>A PACA-AU 17 47295217 47295217 single base substitution G A upstream_gene_variant PACA-AU 17 47296426 47296426 single base substitution G A intron_variant PACA-AU 17 47296426 47296426 single base substitution G A upstream_gene_variant PACA-AU 17 47296971 47296971 single base substitution G A missense_variant A16T 46G>A PACA-AU 17 47296971 47296971 single base substitution G A missense_variant A172T 514G>A PACA-AU 17 47296971 47296971 single base substitution G A missense_variant A178T 532G>A PACA-AU 17 47296971 47296971 single base substitution G A upstream_gene_variant PACA-AU 17 47298312 47298312 single base substitution G A intron_variant PACA-AU 17 47301096 47301096 single base substitution G A downstream_gene_variant PACA-AU 17 47301288 47301288 deletion of <=200bp G - downstream_gene_variant PACA-AU 17 47303241 47303254 deletion of <=200bp GGGCTGAGAGGAGG - downstream_gene_variant PACA-CA 17 47283071 47283071 single base substitution G A upstream_gene_variant PACA-CA 17 47283313 47283313 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 47284087 47284087 single base substitution G T upstream_gene_variant PACA-CA 17 47285836 47285836 single base substitution A G upstream_gene_variant PACA-CA 17 47292361 47292361 single base substitution G A intron_variant PACA-CA 17 47292361 47292361 single base substitution G A upstream_gene_variant PACA-CA 17 47293773 47293773 single base substitution G T intron_variant PACA-CA 17 47293773 47293773 single base substitution G T upstream_gene_variant PACA-CA 17 47298015 47298015 single base substitution T A intron_variant PACA-CA 17 47299758 47299758 single base substitution A G 3_prime_UTR_variant PACA-CA 17 47299758 47299758 single base substitution A G intron_variant PACA-CA 17 47301574 47301574 single base substitution G A downstream_gene_variant PACA-CA 17 47302775 47302775 single base substitution G C downstream_gene_variant PACA-CA 17 47303224 47303224 deletion of <=200bp G - downstream_gene_variant PACA-CA 17 47304727 47304728 deletion of <=200bp AG - downstream_gene_variant PAEN-AU 17 47297466 47297466 single base substitution T G intron_variant PAEN-AU 17 47301142 47301142 single base substitution A C downstream_gene_variant PBCA-DE 17 47284702 47284702 single base substitution G A upstream_gene_variant PBCA-DE 17 47285058 47285058 single base substitution G C upstream_gene_variant PBCA-DE 17 47287263 47287263 single base substitution C G upstream_gene_variant PBCA-DE 17 47289070 47289070 single base substitution G A intron_variant PBCA-DE 17 47290125 47290125 single base substitution T C intron_variant PBCA-DE 17 47297534 47297534 single base substitution C T synonymous_variant S210S 630C>T PBCA-DE 17 47297534 47297534 single base substitution C T synonymous_variant S216S 648C>T PBCA-DE 17 47297534 47297534 single base substitution C T synonymous_variant S33S 99C>T PBCA-DE 17 47297534 47297534 single base substitution C T synonymous_variant S54S 162C>T PBCA-DE 17 47301991 47301991 insertion of <=200bp - GGCT downstream_gene_variant PRAD-CA 17 47292739 47292739 single base substitution T C intron_variant PRAD-CA 17 47292739 47292739 single base substitution T C upstream_gene_variant PRAD-UK 17 47283214 47283214 single base substitution A G upstream_gene_variant PRAD-UK 17 47283717 47283717 single base substitution C A upstream_gene_variant PRAD-UK 17 47288186 47288186 single base substitution G A missense_variant E34K 100G>A PRAD-UK 17 47289475 47289475 single base substitution G C intron_variant PRAD-UK 17 47290537 47290537 single base substitution A T intron_variant PRAD-UK 17 47303076 47303076 single base substitution G A downstream_gene_variant PRAD-UK 17 47303102 47303102 single base substitution G C downstream_gene_variant PRAD-US 17 47302390 47302392 deletion of <=200bp AGG - downstream_gene_variant READ-US 17 47293929 47293929 single base substitution G A missense_variant A52T 154G>A READ-US 17 47293929 47293929 single base substitution G A upstream_gene_variant READ-US 17 47295217 47295217 single base substitution G A synonymous_variant T128T 384G>A READ-US 17 47295217 47295217 single base substitution G A synonymous_variant T134T 402G>A READ-US 17 47295217 47295217 single base substitution G A upstream_gene_variant RECA-EU 17 47283605 47283605 single base substitution C A upstream_gene_variant RECA-EU 17 47294649 47294649 single base substitution C A intron_variant RECA-EU 17 47294649 47294649 single base substitution C A upstream_gene_variant SKCA-BR 17 47282699 47282699 single base substitution C T upstream_gene_variant SKCA-BR 17 47283678 47283678 single base substitution G A upstream_gene_variant SKCA-BR 17 47283767 47283767 single base substitution G A upstream_gene_variant SKCA-BR 17 47285317 47285317 single base substitution C T upstream_gene_variant SKCA-BR 17 47285846 47285846 single base substitution G A upstream_gene_variant SKCA-BR 17 47287645 47287645 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 47287645 47287645 single base substitution G A upstream_gene_variant SKCA-BR 17 47289036 47289036 single base substitution C T intron_variant SKCA-BR 17 47289565 47289565 single base substitution C T intron_variant SKCA-BR 17 47291009 47291009 single base substitution C T intron_variant SKCA-BR 17 47291047 47291047 single base substitution G A intron_variant SKCA-BR 17 47294627 47294627 single base substitution T C intron_variant SKCA-BR 17 47294627 47294627 single base substitution T C upstream_gene_variant SKCA-BR 17 47295139 47295139 single base substitution G A synonymous_variant E102E 306G>A SKCA-BR 17 47295139 47295139 single base substitution G A synonymous_variant E108E 324G>A SKCA-BR 17 47295139 47295139 single base substitution G A upstream_gene_variant SKCA-BR 17 47295901 47295901 single base substitution G A intron_variant SKCA-BR 17 47295901 47295901 single base substitution G A upstream_gene_variant SKCA-BR 17 47295970 47295970 insertion of <=200bp - ATTC intron_variant SKCA-BR 17 47295970 47295970 insertion of <=200bp - ATTC upstream_gene_variant SKCA-BR 17 47298215 47298215 single base substitution A G intron_variant SKCA-BR 17 47299190 47299190 single base substitution C T intron_variant SKCA-BR 17 47300829 47300829 single base substitution T G downstream_gene_variant SKCA-BR 17 47301735 47301735 single base substitution T G downstream_gene_variant SKCA-BR 17 47302461 47302461 single base substitution G A downstream_gene_variant SKCA-BR 17 47303382 47303382 single base substitution G A downstream_gene_variant SKCA-BR 17 47303746 47303746 single base substitution C T downstream_gene_variant SKCA-BR 17 47304416 47304416 single base substitution C T downstream_gene_variant SKCM-US 17 47284153 47284153 single base substitution G A upstream_gene_variant SKCM-US 17 47284154 47284154 single base substitution G A upstream_gene_variant SKCM-US 17 47284190 47284190 single base substitution C T upstream_gene_variant SKCM-US 17 47284743 47284743 single base substitution C T upstream_gene_variant SKCM-US 17 47284745 47284745 single base substitution C T upstream_gene_variant SKCM-US 17 47294030 47294030 single base substitution G A synonymous_variant Q85Q 255G>A SKCM-US 17 47294030 47294030 single base substitution G A upstream_gene_variant SKCM-US 17 47294040 47294040 single base substitution C T missense_variant R89C 265C>T SKCM-US 17 47294040 47294040 single base substitution C T upstream_gene_variant SKCM-US 17 47295184 47295184 single base substitution G A synonymous_variant K117K 351G>A SKCM-US 17 47295184 47295184 single base substitution G A synonymous_variant K123K 369G>A SKCM-US 17 47295184 47295184 single base substitution G A upstream_gene_variant SKCM-US 17 47295229 47295229 single base substitution G A synonymous_variant R132R 396G>A SKCM-US 17 47295229 47295229 single base substitution G A synonymous_variant R138R 414G>A SKCM-US 17 47295229 47295229 single base substitution G A upstream_gene_variant SKCM-US 17 47295266 47295266 single base substitution C T missense_variant H145Y 433C>T SKCM-US 17 47295266 47295266 single base substitution C T missense_variant H151Y 451C>T SKCM-US 17 47295266 47295266 single base substitution C T upstream_gene_variant SKCM-US 17 47296976 47296976 single base substitution C T synonymous_variant S173S 519C>T SKCM-US 17 47296976 47296976 single base substitution C T synonymous_variant S179S 537C>T SKCM-US 17 47296976 47296976 single base substitution C T synonymous_variant S17S 51C>T SKCM-US 17 47296976 47296976 single base substitution C T upstream_gene_variant SKCM-US 17 47297556 47297556 single base substitution C T missense_variant P218S 652C>T SKCM-US 17 47297556 47297556 single base substitution C T missense_variant P224S 670C>T SKCM-US 17 47297556 47297556 single base substitution C T missense_variant P41S 121C>T SKCM-US 17 47297556 47297556 single base substitution C T missense_variant P62S 184C>T SKCM-US 17 47299475 47299475 single base substitution G A synonymous_variant L120L 360G>A SKCM-US 17 47299475 47299475 single base substitution G A synonymous_variant L269L 807G>A SKCM-US 17 47299475 47299475 single base substitution G A synonymous_variant L275L 825G>A SKCM-US 17 47299475 47299475 single base substitution G A synonymous_variant L99L 297G>A SKCM-US 17 47299496 47299496 single base substitution C T synonymous_variant P106P 318C>T SKCM-US 17 47299496 47299496 single base substitution C T synonymous_variant P127P 381C>T SKCM-US 17 47299496 47299496 single base substitution C T synonymous_variant P276P 828C>T SKCM-US 17 47299496 47299496 single base substitution C T synonymous_variant P282P 846C>T SKCM-US 17 47299583 47299583 single base substitution G A synonymous_variant E135E 405G>A SKCM-US 17 47299583 47299583 single base substitution G A synonymous_variant E156E 468G>A SKCM-US 17 47299583 47299583 single base substitution G A synonymous_variant E305E 915G>A SKCM-US 17 47299583 47299583 single base substitution G A synonymous_variant E311E 933G>A SKCM-US 17 47299945 47299945 single base substitution G A downstream_gene_variant SKCM-US 17 47299945 47299945 single base substitution G A synonymous_variant K147K 441G>A SKCM-US 17 47299945 47299945 single base substitution G A synonymous_variant K317K 951G>A SKCM-US 17 47299945 47299945 single base substitution G A synonymous_variant K323K 969G>A SKCM-US 17 47300000 47300000 single base substitution T A downstream_gene_variant SKCM-US 17 47300000 47300000 single base substitution T A missense_variant S166T 496T>A SKCM-US 17 47300000 47300000 single base substitution T A missense_variant S336T 1006T>A SKCM-US 17 47300000 47300000 single base substitution T A missense_variant S342T 1024T>A SKCM-US 17 47302390 47302392 deletion of <=200bp AGG - downstream_gene_variant SKCM-US 17 47304121 47304121 single base substitution C T downstream_gene_variant STAD-US 17 47284191 47284191 single base substitution G A upstream_gene_variant STAD-US 17 47284199 47284199 single base substitution C A upstream_gene_variant STAD-US 17 47284234 47284234 single base substitution G A upstream_gene_variant STAD-US 17 47284707 47284707 single base substitution T C upstream_gene_variant STAD-US 17 47295191 47295191 single base substitution G A missense_variant A120T 358G>A STAD-US 17 47295191 47295191 single base substitution G A missense_variant A126T 376G>A STAD-US 17 47295191 47295191 single base substitution G A upstream_gene_variant STAD-US 17 47295217 47295217 single base substitution G A synonymous_variant T128T 384G>A STAD-US 17 47295217 47295217 single base substitution G A synonymous_variant T134T 402G>A STAD-US 17 47295217 47295217 single base substitution G A upstream_gene_variant STAD-US 17 47302153 47302153 single base substitution G A downstream_gene_variant THCA-SA 17 47301268 47301268 single base substitution T A downstream_gene_variant UCEC-US 17 47284193 47284193 single base substitution T G upstream_gene_variant UCEC-US 17 47284724 47284724 single base substitution C A upstream_gene_variant UCEC-US 17 47284761 47284763 deletion of <=200bp CTT - upstream_gene_variant UCEC-US 17 47288152 47288152 single base substitution C T synonymous_variant N22N 66C>T UCEC-US 17 47295191 47295191 single base substitution G A missense_variant A120T 358G>A UCEC-US 17 47295191 47295191 single base substitution G A missense_variant A126T 376G>A UCEC-US 17 47295191 47295191 single base substitution G A upstream_gene_variant UCEC-US 17 47295199 47295199 single base substitution G T missense_variant E122D 366G>T UCEC-US 17 47295199 47295199 single base substitution G T missense_variant E128D 384G>T UCEC-US 17 47295199 47295199 single base substitution G T upstream_gene_variant UCEC-US 17 47302390 47302392 deletion of <=200bp AGG - downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SWE-2B COSM1178244 c.1016G>A p.R339H Substitution - Missense 17:49222630-49222630 + RK337_C01 COSM4943432 c.991G>A p.E331K Substitution - Missense 17:49222605-49222605 + TCGA-AA-3994-01 COSM2698250 c.354_355insC p.G121fs*167 Insertion - Frameshift 17:49217807-49217808 + TCGA-AM-5821-01 COSM3691664 c.1044C>T p.G348G Substitution - coding silent 17:49222658-49222658 + TCGA-G4-6627-01 COSM5179628 c.251G>A p.R84Q Substitution - Missense 17:49216664-49216664 + TCGA-EB-A430-01 COSM3518907 c.969G>A p.K323K Substitution - coding silent 17:49222583-49222583 + TCGA-BR-4184-01 COSM980767 c.376G>A p.A126T Substitution - Missense 17:49217829-49217829 + TCGA-EE-A3J3-06 COSM3889849 c.537C>T p.S179S Substitution - coding silent 17:49219614-49219614 + CAL33 COSM4591426 c.517G>C p.A173P Substitution - Missense 17:49219594-49219594 + SNUH_G22_S1 COSM4000188 c.813G>C p.L271L Substitution - coding silent 17:49222101-49222101 + ESO-147 COSM1244021 c.217C>T p.L73L Substitution - coding silent 17:49216630-49216630 + TCGA-06-0211-02 COSM2150771 c.714C>A p.P238P Substitution - coding silent 17:49220238-49220238 + BN24 COSM1610428 c.328G>A p.G110S Substitution - Missense 17:49217781-49217781 + CSCC-20-T COSM4492805 c.403C>T p.P135S Substitution - Missense 17:49217856-49217856 + PT16_1 COSM5898533 c.970G>A p.D324N Substitution - Missense 17:49222584-49222584 + TCGA-A6-6653-01 COSM5092128 c.523G>A p.A175T Substitution - Missense 17:49219600-49219600 + 0079_CRUK_PC_0079_T1_DNA COSM5420867 c.100G>A p.E34K Substitution - Missense 17:49210824-49210824 + HCC022T COSM5817678 c.1053A>T p.S351S Substitution - coding silent 17:49222667-49222667 + 1_PRE-TREATMENT COSM1717923 c.759C>T p.F253F Substitution - coding silent 17:49220283-49220283 + TCGA-AG-4007-01 COSM289419 c.176C>T p.A59V Substitution - Missense 17:49216589-49216589 + CCC4 COSM3717442 c.1094G>T p.S365I Substitution - Missense 17:49222708-49222708 + 93VU147T COSM4591426 c.517G>C p.A173P Substitution - Missense 17:49219594-49219594 + ESCC-D4 COSM980767 c.376G>A p.A126T Substitution - Missense 17:49217829-49217829 + BN24T COSM1610428 c.328G>A p.G110S Substitution - Missense 17:49217781-49217781 + TCGA-AM-5820-01 COSM3691663 c.355C>T p.P119S Substitution - Missense 17:49217808-49217808 + PA285 COSM1163161 c.363C>T p.G121G Substitution - coding silent 17:49217816-49217816 + PTC-54C COSM4130357 c.257T>G p.V86G Substitution - Missense 17:49216670-49216670 + TCGA-CJ-4908-01 COSM472963 c.804C>T p.D268D Substitution - coding silent 17:49222092-49222092 + TCGA-EE-A2MR-06 COSM3518905 c.825G>A p.L275L Substitution - coding silent 17:49222113-49222113 + C84 COSM4620043 c.225G>A p.M75I Substitution - Missense 17:49216638-49216638 + CHC1186T COSM4803445 c.232C>T p.L78L Substitution - coding silent 17:49216645-49216645 + 2521249 COSM1384058 c.805G>A p.E269K Substitution - Missense 17:49222093-49222093 + TCGA-76-6662-01 COSM3402983 c.648C>T p.S216S Substitution - coding silent 17:49220172-49220172 + 61 COSM5741030 c.993G>T p.E331D Substitution - Missense 17:49222607-49222607 + TCGA-AM-5821-01 COSM3691663 c.355C>T p.P119S Substitution - Missense 17:49217808-49217808 + 45T COSM3712359 c.645C>A p.G215G Substitution - coding silent 17:49220169-49220169 + CSCC-56-T COSM4526939 c.142G>A p.E48K Substitution - Missense 17:49216555-49216555 + cSCCP1 COSM135761 c.989C>T p.S330F Substitution - Missense 17:49222603-49222603 + TCGA-CA-6717-01 COSM1384056 c.87C>T p.V29V Substitution - coding silent 17:49210811-49210811 + PT33 COSM5909551 c.394C>T p.P132S Substitution - Missense 17:49217847-49217847 + TCGA-WS-AB45-01 COSM5190244 c.401C>T p.T134M Substitution - Missense 17:49217854-49217854 + 304_T COSM3958507 c.89C>T p.A30V Substitution - Missense 17:49210813-49210813 + LN18 COSM2698254 c.680A>T p.K227M Substitution - Missense 17:49220204-49220204 + TCGA-EI-6882-01 COSM3421669 c.154G>A p.A52T Substitution - Missense 17:49216567-49216567 + CHC1186T COSM4803445 c.232C>T p.L78L Substitution - coding silent 17:49216645-49216645 + TCGA-A5-A0GB-01 COSM980769 c.867G>A p.G289G Substitution - coding silent 17:49222155-49222155 + CSCC-31-T COSM4506164 c.712C>T p.P238S Substitution - Missense 17:49220236-49220236 + TCGA-EI-6882-01 COSM3421670 c.402G>A p.T134T Substitution - coding silent 17:49217855-49217855 + PTC-28C COSM4130358 c.626T>C p.F209S Substitution - Missense 17:49219935-49219935 + CSCC-11-T COSM4539756 c.272G>A p.S91N Substitution - Missense 17:49216685-49216685 + TCGA-BR-4191-01 COSM3421670 c.402G>A p.T134T Substitution - coding silent 17:49217855-49217855 + YURIF COSM1710447 c.728C>T p.P243L Substitution - Missense 17:49220252-49220252 + 8052859 COSM3421670 c.402G>A p.T134T Substitution - coding silent 17:49217855-49217855 + DLD1 COSM4623598 c.71G>T p.S24I Substitution - Missense 17:49210795-49210795 + 1_RESISTANT COSM1717923 c.759C>T p.F253F Substitution - coding silent 17:49220283-49220283 + 8035603 COSM3387999 c.532G>A p.A178T Substitution - Missense 17:49219609-49219609 + TCGA-D3-A2JN-06 COSM3518904 c.670C>T p.P224S Substitution - Missense 17:49220194-49220194 + 587238 COSM1181423 c.431G>A p.G144D Substitution - Missense 17:49217884-49217884 + TCGA-EE-A2GI-06 COSM3518908 c.1024T>A p.S342T Substitution - Missense 17:49222638-49222638 + TCGA-D3-A51J-06 COSM3889847 c.369G>A p.K123K Substitution - coding silent 17:49217822-49217822 + TCGA-BQ-5875-01 COSM3989111 c.897T>C p.P299P Substitution - coding silent 17:49222185-49222185 + YURUS COSM1710445 c.392C>T p.P131L Substitution - Missense 17:49217845-49217845 + YUTEPA COSM1710444 c.317G>A p.R106Q Substitution - Missense 17:49217770-49217770 + J90_T COSM3958508 c.772A>T p.T258S Substitution - Missense 17:49220296-49220296 + TCGA-D1-A174-01 COSM980767 c.376G>A p.A126T Substitution - Missense 17:49217829-49217829 + HCC002T COSM5819297 c.824T>A p.L275Q Substitution - Missense 17:49222112-49222112 + TCGA-AA-3672-01 COSM265948 c.169G>A p.A57T Substitution - Missense 17:49216582-49216582 + TCGA-A6-5665-01 COSM1384057 c.319A>C p.R107R Substitution - coding silent 17:49217772-49217772 + LUAD-5V8LT COSM401724 c.6G>T p.A2A Substitution - coding silent 17:49210730-49210730 + 40M COSM5584341 c.983C>T p.S328F Substitution - Missense 17:49222597-49222597 + CCC4T COSM3717442 c.1094G>T p.S365I Substitution - Missense 17:49222708-49222708 + TCGA-FW-A3R5-06 COSM3889850 c.933G>A p.E311E Substitution - coding silent 17:49222221-49222221 + TCGA-EE-A3J3-06 COSM3889846 c.255G>A p.Q85Q Substitution - coding silent 17:49216668-49216668 + TCGA-06-0211 COSM2150771 c.714C>A p.P238P Substitution - coding silent 17:49220238-49220238 + YUNEXUS COSM3518907 c.969G>A p.K323K Substitution - coding silent 17:49222583-49222583 + TCGA-D1-A17Q-01 COSM980768 c.384G>T p.E128D Substitution - Missense 17:49217837-49217837 + TCGA-E2-A10C-01 COSM436804 c.856G>C p.D286H Substitution - Missense 17:49222144-49222144 + OSCC-GB_00730111 COSM4889031 c.833C>A p.P278H Substitution - Missense 17:49222121-49222121 + S02328 COSM4943432 c.991G>A p.E331K Substitution - Missense 17:49222605-49222605 + 8 COSM5732484 c.560G>A p.R187Q Substitution - Missense 17:49219869-49219869 + TCGA-B5-A0JY-01 COSM980766 c.66C>T p.N22N Substitution - coding silent 17:49210790-49210790 + SCC-9 COSM4591426 c.517G>C p.A173P Substitution - Missense 17:49219594-49219594 + CSCC-27-T COSM4509083 c.796C>T p.P266S Substitution - Missense 17:49220320-49220320 + tumor_4163639 COSM3927577 c.462+8G>C p.? Unknown 17:49217923-49217923 + TCGA-CA-6718-01 COSM1384059 c.850G>T p.D284Y Substitution - Missense 17:49222138-49222138 + YUKLAB COSM1710446 c.682G>A p.G228R Substitution - Missense 17:49220206-49220206 + NOKSI COSM4591426 c.517G>C p.A173P Substitution - Missense 17:49219594-49219594 + S02285 COSM5684621 c.180C>G p.S60R Substitution - Missense 17:49216593-49216593 + CSCC-10-T COSM4542624 c.321G>A p.R107R Substitution - coding silent 17:49217774-49217774 + CSCC-31-T COSM4506412 c.719C>T p.S240F Substitution - Missense 17:49220243-49220243 + HN_62854 COSM126535 c.652G>T p.E218* Substitution - Nonsense 17:49220176-49220176 + HCT15 COSM4623598 c.71G>T p.S24I Substitution - Missense 17:49210795-49210795 + Au4 COSM3518907 c.969G>A p.K323K Substitution - coding silent 17:49222583-49222583 + 19 COSM5747871 c.1022A>G p.Y341C Substitution - Missense 17:49222636-49222636 + YUPAER COSM5386620 c.24G>A p.Q8Q Substitution - coding silent 17:49210748-49210748 + TCGA-FW-A3R5-06 COSM3889848 c.414G>A p.R138R Substitution - coding silent 17:49217867-49217867 + 66 COSM5743855 c.763C>T p.R255W Substitution - Missense 17:49220287-49220287 + TCGA-D5-6530-01 COSM5162489 c.813G>A p.L271L Substitution - coding silent 17:49222101-49222101 + TCGA-WS-AB45-01 COSM5188756 c.376_377insC p.E128fs*160 Insertion - Frameshift 17:49217829-49217830 + TCGA-AM-5820-01 COSM3691664 c.1044C>T p.G348G Substitution - coding silent 17:49222658-49222658 + Pat_63_A COSM2698256 c.832C>T p.P278S Substitution - Missense 17:49222120-49222120 + TCGA-FS-A1ZC-06 COSM3518906 c.846C>T p.P282P Substitution - coding silent 17:49222134-49222134 + OSCC-GB_00450111 COSM3712359 c.645C>A p.G215G Substitution - coding silent 17:49220169-49220169 + TCGA-D3-A51R-06 COSM3518902 c.265C>T p.R89C Substitution - Missense 17:49216678-49216678 + TCGA-FU-A3YQ-01 COSM4823571 c.361G>A p.G121S Substitution - Missense 17:49217814-49217814 + XHDG35 COSM4769592 c.613G>A p.A205T Substitution - Missense 17:49219922-49219922 + TCGA-EE-A2MS-06 COSM3518903 c.451C>T p.H151Y Substitution - Missense 17:49217904-49217904 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.130719 17q21.3 606363 2408235|CGAP|BC007780|C/T|non-coding||1381|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I335V c.1003A>G 17 47299979 GBM C A Missense p.P302H c.905C>A 17 47299555 LUAD C A Synonymous p.P238P c.714C>A 17 47297600 GBM C A Synonymous p.S328S c.984C>A 17 47299960 LUAD CC TT Missense p.P120L c.359_360delinsTT 17 47295174 CM C - IntronicDeletion . c.286-88delC 17 47295005 ESCA - C IntronicInsertion . c.286-88dupC 17 47295005 ESCA C T Missense p.A59V c.176C>T 17 47293951 COREAD C T Missense p.H151Y c.451C>T 17 47295266 CM C T Missense p.P132L c.395C>T 17 47295210 CM C T Missense p.P189L c.566C>T 17 47297237 CM C T Missense p.P224S c.670C>T 17 47297556 CM C T Missense p.P292L c.875C>T 17 47299525 LUAD C T Nonsense p.Q95* c.283C>T 17 47294058 CM C T Synonymous p.C145C c.435C>T 17 47295250 LUAD C T Synonymous p.F357F c.1071C>T 17 47300047 BRCA C T Synonymous p.L73L c.217C>T 17 47293992 ESCA C T Synonymous p.P120P c.360C>T 17 47295175 CM C T Synonymous p.P282P c.846C>T 17 47299496 CM C T Synonymous p.S179S c.537C>T 17 47296976 CM C T Synonymous p.S216S c.648C>T 17 47297534 GBM G A Missense p.A126T c.376G>A 17 47295191 UCEC G A Missense p.G296E c.887G>A 17 47299537 CM G A Missense p.R106Q c.317G>A 17 47295132 HNSC G A Missense p.R74H c.221G>A 17 47293996 HNSC G A Synonymous p.A208A c.624G>A 17 47297295 BRCA G A Synonymous p.Q85Q c.255G>A 17 47294030 CM G A Synonymous p.R107R c.321G>A 17 47295136 CM G A Synonymous p.T134T c.402G>A 17 47295217 STAD G T Missense p.M51I c.153G>T 17 47293928 LUAD G T Nonsense p.E218* c.652G>T 17 47297538 HNSC T A Missense p.S342T c.1024T>A 17 47300000 CM