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 3 69104646 69104646 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr3:69104646G>A c.1334C>T c.(1333-1335)gCg>gTg p.A445V BLCA 3 69105208 69105208 + Missense_Mutation SNP C C T TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr3:69105208C>T c.1191G>A c.(1189-1191)atG>atA p.M397I BLCA 3 69112141 69112141 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:69112141G>T c.685C>A c.(685-687)Cca>Aca p.P229T BLCA 3 69113226 69113226 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr3:69113226G>A c.465C>T c.(463-465)ttC>ttT p.F155F BLCA 3 69117079 69117079 + Splice_Site SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr3:69117079G>A c.428C>T c.(427-429)cCa>cTa p.P143L BLCA 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr3:69124658G>C c.187C>G c.(187-189)Ctc>Gtc p.L63V BLCA 3 69126979 69126979 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:69126979G>A c.153C>T c.(151-153)ttC>ttT p.F51F BLCA 3 69127035 69127035 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:69127035C>A c.97G>T c.(97-99)Gac>Tac p.D33Y BRCA 3 69113243 69113243 + Missense_Mutation SNP C C G TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr3:69113243C>G c.448G>C c.(448-450)Gat>Cat p.D150H CESC 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr3:69124658G>C c.187C>G c.(187-189)Ctc>Gtc p.L63V COAD 3 69105768 69105768 + Silent SNP T T G TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr3:69105768T>G c.1078A>C c.(1078-1080)Aga>Cga p.R360R COAD 3 69105826 69105826 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:69105826A>G c.1020T>C c.(1018-1020)aaT>aaC p.N340N COAD 3 69105843 69105843 + Splice_Site SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:69105843C>T c.1003G>A c.(1003-1005)Gca>Aca p.A335T COAD 3 69111277 69111277 + Nonsense_Mutation SNP A A T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:69111277A>T c.747T>A c.(745-747)tgT>tgA p.C249* COAD 3 69111277 69111277 + Nonsense_Mutation SNP A A T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr3:69111277A>T c.747T>A c.(745-747)tgT>tgA p.C249* COAD 3 69111279 69111279 + Missense_Mutation SNP A A G TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr3:69111279A>G c.745T>C c.(745-747)Tgt>Cgt p.C249R COAD 3 69113221 69113221 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:69113221C>T c.470G>A c.(469-471)cGa>cAa p.R157Q COAD 3 69126992 69126992 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:69126992C>T c.140G>A c.(139-141)cGa>cAa p.R47Q COADREAD 3 69105768 69105768 + Silent SNP T T G TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr3:69105768T>G c.1078A>C c.(1078-1080)Aga>Cga p.R360R COADREAD 3 69105826 69105826 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:69105826A>G c.1020T>C c.(1018-1020)aaT>aaC p.N340N COADREAD 3 69105843 69105843 + Splice_Site SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:69105843C>T c.1003G>A c.(1003-1005)Gca>Aca p.A335T COADREAD 3 69111277 69111277 + Nonsense_Mutation SNP A A T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:69111277A>T c.747T>A c.(745-747)tgT>tgA p.C249* COADREAD 3 69111277 69111277 + Nonsense_Mutation SNP A A T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr3:69111277A>T c.747T>A c.(745-747)tgT>tgA p.C249* COADREAD 3 69111279 69111279 + Missense_Mutation SNP A A G TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr3:69111279A>G c.745T>C c.(745-747)Tgt>Cgt p.C249R COADREAD 3 69113221 69113221 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:69113221C>T c.470G>A c.(469-471)cGa>cAa p.R157Q COADREAD 3 69113221 69113221 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:69113221C>T c.470G>A c.(469-471)cGa>cAa p.R157Q COADREAD 3 69126992 69126992 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:69126992C>T c.140G>A c.(139-141)cGa>cAa p.R47Q ESCA 3 69105806 69105806 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr3:69105806T>A c.1040A>T c.(1039-1041)gAt>gTt p.D347V GBM 3 69120763 69120763 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr3:69120763C>T c.270G>A c.(268-270)ttG>ttA p.L90L GBMLGG 3 69120750 69120750 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:69120750G>A c.283C>T c.(283-285)Cag>Tag p.Q95* GBMLGG 3 69120763 69120763 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr3:69120763C>T c.270G>A c.(268-270)ttG>ttA p.L90L HNSC 3 69105055 69105055 + Splice_Site SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr3:69105055G>T c.1250C>A c.(1249-1251)tCg>tAg p.S417* HNSC 3 69105798 69105798 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr3:69105798C>T c.1048G>A c.(1048-1050)Ggg>Agg p.G350R HNSC 3 69111272 69111272 + Missense_Mutation SNP T T A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 g.chr3:69111272T>A c.752A>T c.(751-753)gAg>gTg p.E251V LGG 3 69120750 69120750 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:69120750G>A c.283C>T c.(283-285)Cag>Tag p.Q95* LIHC 3 69117114 69117114 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:69117114delA c.393delT c.(391-393)tttfs p.F131fs LUAD 3 69105182 69105182 + Missense_Mutation SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:69105182A>G c.1217T>C c.(1216-1218)cTa>cCa p.L406P LUAD 3 69120701 69120701 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr3:69120701C>T c.332G>A c.(331-333)aGg>aAg p.R111K LUAD 3 69124581 69124581 + Splice_Site SNP C C T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr3:69124581C>T c.264G>A c.(262-264)ctG>ctA p.L88L LUAD 3 69124610 69124610 + Missense_Mutation SNP C C T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr3:69124610C>T c.235G>A c.(235-237)Ggc>Agc p.G79S LUAD 3 69127009 69127009 + Silent SNP T T A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr3:69127009T>A c.123A>T c.(121-123)gtA>gtT p.V41V LUAD 3 69129290 69129292 + In_Frame_Del DEL CTT CTT - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 g.chr3:69129290_69129292delCTT c.33_35delAAG c.(31-36)agaagg>agg p.11_12RR>R LUSC 3 69105003 69105003 + Splice_Site SNP T T A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr3:69105003T>A c.1302A>T c.(1300-1302)aaA>aaT p.K434N LUSC 3 69111294 69111294 + Missense_Mutation SNP T T A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr3:69111294T>A c.730A>T c.(730-732)Agg>Tgg p.R244W LUSC 3 69112186 69112186 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:69112186G>A c.640C>T c.(640-642)Ctg>Ttg p.L214L LUSC 3 69112255 69112255 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr3:69112255C>A c.571G>T c.(571-573)Gat>Tat p.D191Y OV 3 69111278 69111278 + Missense_Mutation SNP C C T TCGA-20-0990-01A-01W-0486-08 TCGA-20-0990-10A-01W-0486-08 g.chr3:69111278C>T c.746G>A c.(745-747)tGt>tAt p.C249Y READ 3 69113221 69113221 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:69113221C>T c.470G>A c.(469-471)cGa>cAa p.R157Q SARC 3 69105348 69105348 + Silent SNP G G C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 g.chr3:69105348G>C c.1170C>G c.(1168-1170)acC>acG p.T390T SKCM 3 69105771 69105771 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:69105771C>T c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K SKCM 3 69111006 69111006 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:69111006G>A c.869C>T c.(868-870)tCa>tTa p.S290L SKCM 3 69111302 69111302 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:69111302G>A c.722C>T c.(721-723)tCt>tTt p.S241F SKCM 3 69111310 69111310 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:69111310G>A c.714C>T c.(712-714)acC>acT p.T238T SKCM 3 69111322 69111322 + Silent SNP A A G TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr3:69111322A>G c.702T>C c.(700-702)ttT>ttC p.F234F SKCM 3 69112140 69112140 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:69112140G>A c.686C>T c.(685-687)cCa>cTa p.P229L SKCM 3 69112644 69112649 + In_Frame_Del DEL AATATG AATATG - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:69112644_69112649delAATATG c.478_483delCATATT c.(478-483)catattdel p.HI160del SKCM 3 69127023 69127023 + Missense_Mutation SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr3:69127023G>A c.109C>T c.(109-111)Cgc>Tgc p.R37C

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 3 69105200 69105200 single base substitution G A 3_prime_UTR_variant BLCA-CN 3 69105200 69105200 single base substitution G A missense_variant P223L 668C>T BLCA-CN 3 69105200 69105200 single base substitution G A missense_variant P359L 1076C>T BLCA-CN 3 69105200 69105200 single base substitution G A missense_variant P386L 1157C>T BLCA-CN 3 69105200 69105200 single base substitution G A missense_variant P400L 1199C>T BLCA-CN 3 69124650 69124650 single base substitution G C downstream_gene_variant BLCA-CN 3 69124650 69124650 single base substitution G C exon_variant BLCA-CN 3 69124650 69124650 single base substitution G C intron_variant BLCA-CN 3 69124650 69124650 single base substitution G C missense_variant F51L 153C>G BLCA-CN 3 69124650 69124650 single base substitution G C missense_variant F65L 195C>G BLCA-CN 3 69134202 69134202 single base substitution G A upstream_gene_variant BLCA-US 3 69112141 69112141 single base substitution G T 3_prime_UTR_variant BLCA-US 3 69112141 69112141 single base substitution G T exon_variant BLCA-US 3 69112141 69112141 single base substitution G T missense_variant P188T 562C>A BLCA-US 3 69112141 69112141 single base substitution G T missense_variant P215T 643C>A BLCA-US 3 69112141 69112141 single base substitution G T missense_variant P229T 685C>A BLCA-US 3 69112141 69112141 single base substitution G T missense_variant P52T 154C>A BLCA-US 3 69113226 69113226 single base substitution G A exon_variant BLCA-US 3 69113226 69113226 single base substitution G A intron_variant BLCA-US 3 69113226 69113226 single base substitution G A synonymous_variant F114F 342C>T BLCA-US 3 69113226 69113226 single base substitution G A synonymous_variant F141F 423C>T BLCA-US 3 69113226 69113226 single base substitution G A synonymous_variant F155F 465C>T BLCA-US 3 69124658 69124658 single base substitution G C downstream_gene_variant BLCA-US 3 69124658 69124658 single base substitution G C exon_variant BLCA-US 3 69124658 69124658 single base substitution G C intron_variant BLCA-US 3 69124658 69124658 single base substitution G C missense_variant L49V 145C>G BLCA-US 3 69124658 69124658 single base substitution G C missense_variant L63V 187C>G BRCA-EU 3 69100005 69100005 single base substitution T G downstream_gene_variant BRCA-EU 3 69101934 69101936 deletion of <=200bp TAG - downstream_gene_variant BRCA-EU 3 69102280 69102280 single base substitution A T downstream_gene_variant BRCA-EU 3 69104152 69104152 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 69104152 69104152 single base substitution A G downstream_gene_variant BRCA-EU 3 69105324 69105324 single base substitution C T intron_variant BRCA-EU 3 69106620 69106620 single base substitution C T downstream_gene_variant BRCA-EU 3 69106620 69106620 single base substitution C T intron_variant BRCA-EU 3 69108923 69108923 single base substitution C T downstream_gene_variant BRCA-EU 3 69108923 69108923 single base substitution C T intron_variant BRCA-EU 3 69109241 69109241 single base substitution G C downstream_gene_variant BRCA-EU 3 69109241 69109241 single base substitution G C intron_variant BRCA-EU 3 69110893 69110893 single base substitution G A exon_variant BRCA-EU 3 69110893 69110893 single base substitution G A intron_variant BRCA-EU 3 69112184 69112184 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 69112184 69112184 single base substitution C A exon_variant BRCA-EU 3 69112184 69112184 single base substitution C A synonymous_variant L173L 519G>T BRCA-EU 3 69112184 69112184 single base substitution C A synonymous_variant L200L 600G>T BRCA-EU 3 69112184 69112184 single base substitution C A synonymous_variant L214L 642G>T BRCA-EU 3 69112184 69112184 single base substitution C A synonymous_variant L37L 111G>T BRCA-EU 3 69112701 69112701 single base substitution C T intron_variant BRCA-EU 3 69112944 69112944 single base substitution C A intron_variant BRCA-EU 3 69115596 69115596 single base substitution T G downstream_gene_variant BRCA-EU 3 69115596 69115596 single base substitution T G intron_variant BRCA-EU 3 69115596 69115596 single base substitution T G upstream_gene_variant BRCA-EU 3 69116805 69116805 single base substitution G A downstream_gene_variant BRCA-EU 3 69116805 69116805 single base substitution G A intron_variant BRCA-EU 3 69116805 69116805 single base substitution G A upstream_gene_variant BRCA-EU 3 69117516 69117516 single base substitution T C downstream_gene_variant BRCA-EU 3 69117516 69117516 single base substitution T C intron_variant BRCA-EU 3 69117516 69117516 single base substitution T C upstream_gene_variant BRCA-EU 3 69117793 69117793 single base substitution G C downstream_gene_variant BRCA-EU 3 69117793 69117793 single base substitution G C intron_variant BRCA-EU 3 69117793 69117793 single base substitution G C upstream_gene_variant BRCA-EU 3 69118480 69118480 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 69118480 69118480 deletion of <=200bp T - intron_variant BRCA-EU 3 69118621 69118621 single base substitution G C downstream_gene_variant BRCA-EU 3 69118621 69118621 single base substitution G C intron_variant BRCA-EU 3 69119183 69119183 single base substitution G A downstream_gene_variant BRCA-EU 3 69119183 69119183 single base substitution G A intron_variant BRCA-EU 3 69120920 69120920 single base substitution T C downstream_gene_variant BRCA-EU 3 69120920 69120920 single base substitution T C intron_variant BRCA-EU 3 69120977 69120977 single base substitution C A downstream_gene_variant BRCA-EU 3 69120977 69120977 single base substitution C A intron_variant BRCA-EU 3 69122105 69122105 single base substitution C A downstream_gene_variant BRCA-EU 3 69122105 69122105 single base substitution C A intron_variant BRCA-EU 3 69125173 69125173 single base substitution G A downstream_gene_variant BRCA-EU 3 69125173 69125173 single base substitution G A intron_variant BRCA-EU 3 69125490 69125490 single base substitution A G downstream_gene_variant BRCA-EU 3 69125490 69125490 single base substitution A G intron_variant BRCA-EU 3 69127176 69127176 single base substitution C G downstream_gene_variant BRCA-EU 3 69127176 69127176 single base substitution C G intron_variant BRCA-EU 3 69127404 69127404 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 69127404 69127404 deletion of <=200bp A - intron_variant BRCA-EU 3 69127836 69127836 single base substitution C G downstream_gene_variant BRCA-EU 3 69127836 69127836 single base substitution C G intron_variant BRCA-EU 3 69130209 69130209 single base substitution T C upstream_gene_variant BRCA-EU 3 69130734 69130734 single base substitution T G upstream_gene_variant BRCA-EU 3 69131542 69131542 single base substitution G C upstream_gene_variant BRCA-EU 3 69132088 69132088 single base substitution T C upstream_gene_variant BRCA-FR 3 69108923 69108923 single base substitution C T downstream_gene_variant BRCA-FR 3 69108923 69108923 single base substitution C T intron_variant BRCA-FR 3 69117262 69117262 single base substitution G A downstream_gene_variant BRCA-FR 3 69117262 69117262 single base substitution G A intron_variant BRCA-FR 3 69117262 69117262 single base substitution G A upstream_gene_variant BRCA-FR 3 69120977 69120977 single base substitution C A downstream_gene_variant BRCA-FR 3 69120977 69120977 single base substitution C A intron_variant BRCA-FR 3 69127836 69127836 single base substitution C G downstream_gene_variant BRCA-FR 3 69127836 69127836 single base substitution C G intron_variant BRCA-KR 3 69129571 69129571 single base substitution G T upstream_gene_variant BRCA-UK 3 69099815 69099815 single base substitution G C downstream_gene_variant BRCA-UK 3 69100005 69100005 single base substitution T G downstream_gene_variant BRCA-US 3 69113243 69113243 single base substitution C G intron_variant BRCA-US 3 69113243 69113243 single base substitution C G missense_variant D109H 325G>C BRCA-US 3 69113243 69113243 single base substitution C G missense_variant D136H 406G>C BRCA-US 3 69113243 69113243 single base substitution C G missense_variant D150H 448G>C BRCA-US 3 69113243 69113243 single base substitution C G upstream_gene_variant BRCA-US 3 69134375 69134375 insertion of <=200bp - T upstream_gene_variant BTCA-JP 3 69101257 69101257 single base substitution G A downstream_gene_variant BTCA-JP 3 69104492 69104492 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 69105757 69105757 single base substitution A G downstream_gene_variant BTCA-JP 3 69105757 69105757 single base substitution A G splice_region_variant BTCA-JP 3 69112669 69112669 single base substitution A G intron_variant BTCA-JP 3 69112670 69112670 single base substitution A C intron_variant BTCA-JP 3 69129574 69129574 single base substitution G T upstream_gene_variant CESC-US 3 69101209 69101209 single base substitution G C downstream_gene_variant CESC-US 3 69124658 69124658 single base substitution G C downstream_gene_variant CESC-US 3 69124658 69124658 single base substitution G C exon_variant CESC-US 3 69124658 69124658 single base substitution G C intron_variant CESC-US 3 69124658 69124658 single base substitution G C missense_variant L49V 145C>G CESC-US 3 69124658 69124658 single base substitution G C missense_variant L63V 187C>G CESC-US 3 69134213 69134213 single base substitution C G upstream_gene_variant CLLE-ES 3 69117715 69117715 single base substitution G A downstream_gene_variant CLLE-ES 3 69117715 69117715 single base substitution G A intron_variant CLLE-ES 3 69117715 69117715 single base substitution G A upstream_gene_variant CLLE-ES 3 69131798 69131798 single base substitution A G upstream_gene_variant COAD-US 3 69105054 69105054 single base substitution C T splice_region_variant COAD-US 3 69105055 69105055 single base substitution G A missense_variant S240L 719C>T COAD-US 3 69105055 69105055 single base substitution G A missense_variant S376L 1127C>T COAD-US 3 69105055 69105055 single base substitution G A missense_variant S403L 1208C>T COAD-US 3 69105055 69105055 single base substitution G A missense_variant S417L 1250C>T COAD-US 3 69105055 69105055 single base substitution G A splice_region_variant COAD-US 3 69105826 69105826 single base substitution A G 3_prime_UTR_variant COAD-US 3 69105826 69105826 single base substitution A G downstream_gene_variant COAD-US 3 69105826 69105826 single base substitution A G synonymous_variant N163N 489T>C COAD-US 3 69105826 69105826 single base substitution A G synonymous_variant N299N 897T>C COAD-US 3 69105826 69105826 single base substitution A G synonymous_variant N326N 978T>C COAD-US 3 69105826 69105826 single base substitution A G synonymous_variant N340N 1020T>C COAD-US 3 69112220 69112220 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 3 69112220 69112220 deletion of <=200bp C - exon_variant COAD-US 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G161 COAD-US 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G188 COAD-US 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G202 COAD-US 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G25 COAD-US 3 69113221 69113221 single base substitution C T intron_variant COAD-US 3 69113221 69113221 single base substitution C T missense_variant R116Q 347G>A COAD-US 3 69113221 69113221 single base substitution C T missense_variant R143Q 428G>A COAD-US 3 69113221 69113221 single base substitution C T missense_variant R157Q 470G>A COAD-US 3 69113221 69113221 single base substitution C T splice_region_variant COCA-CN 3 69100978 69100978 single base substitution A G downstream_gene_variant COCA-CN 3 69104520 69104520 single base substitution C T 3_prime_UTR_variant COCA-CN 3 69105076 69105076 single base substitution T C intron_variant COCA-CN 3 69105131 69105131 single base substitution T G intron_variant COCA-CN 3 69106304 69106304 single base substitution C T downstream_gene_variant COCA-CN 3 69106304 69106304 single base substitution C T intron_variant COCA-CN 3 69106305 69106305 single base substitution C G downstream_gene_variant COCA-CN 3 69106305 69106305 single base substitution C G intron_variant COCA-CN 3 69110892 69110892 single base substitution C T exon_variant COCA-CN 3 69110892 69110892 single base substitution C T intron_variant COCA-CN 3 69111099 69111099 single base substitution A G intron_variant COCA-CN 3 69112037 69112037 single base substitution C A intron_variant COCA-CN 3 69112409 69112409 single base substitution G A intron_variant COCA-CN 3 69120861 69120861 single base substitution C A downstream_gene_variant COCA-CN 3 69120861 69120861 single base substitution C A intron_variant COCA-CN 3 69127196 69127196 single base substitution C A downstream_gene_variant COCA-CN 3 69127196 69127196 single base substitution C A intron_variant ESAD-UK 3 69101307 69101307 single base substitution A G downstream_gene_variant ESAD-UK 3 69102833 69102833 single base substitution C G downstream_gene_variant ESAD-UK 3 69107696 69107696 single base substitution G A downstream_gene_variant ESAD-UK 3 69107696 69107696 single base substitution G A intron_variant ESAD-UK 3 69107900 69107900 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 69107900 69107900 insertion of <=200bp - A intron_variant ESAD-UK 3 69111096 69111096 single base substitution G A intron_variant ESAD-UK 3 69113702 69113702 single base substitution T G intron_variant ESAD-UK 3 69113702 69113702 single base substitution T G upstream_gene_variant ESAD-UK 3 69113859 69113859 single base substitution C T intron_variant ESAD-UK 3 69113859 69113859 single base substitution C T upstream_gene_variant ESAD-UK 3 69117052 69117052 single base substitution G A downstream_gene_variant ESAD-UK 3 69117052 69117052 single base substitution G A intron_variant ESAD-UK 3 69117052 69117052 single base substitution G A upstream_gene_variant ESAD-UK 3 69118146 69118146 single base substitution T C downstream_gene_variant ESAD-UK 3 69118146 69118146 single base substitution T C intron_variant ESAD-UK 3 69118146 69118146 single base substitution T C upstream_gene_variant ESAD-UK 3 69120425 69120425 single base substitution C T downstream_gene_variant ESAD-UK 3 69120425 69120425 single base substitution C T exon_variant ESAD-UK 3 69120425 69120425 single base substitution C T intron_variant ESAD-UK 3 69123742 69123742 single base substitution C T downstream_gene_variant ESAD-UK 3 69123742 69123742 single base substitution C T intron_variant ESAD-UK 3 69124381 69124381 single base substitution G A downstream_gene_variant ESAD-UK 3 69124381 69124381 single base substitution G A exon_variant ESAD-UK 3 69124381 69124381 single base substitution G A intron_variant ESAD-UK 3 69125538 69125538 single base substitution T A downstream_gene_variant ESAD-UK 3 69125538 69125538 single base substitution T A intron_variant ESAD-UK 3 69128820 69128820 single base substitution A G downstream_gene_variant ESAD-UK 3 69128820 69128820 single base substitution A G intron_variant ESAD-UK 3 69129642 69129642 single base substitution G A upstream_gene_variant ESAD-UK 3 69131170 69131170 single base substitution C T upstream_gene_variant ESAD-UK 3 69132357 69132357 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 69132357 69132357 insertion of <=200bp - A upstream_gene_variant GBM-US 3 69120763 69120763 single base substitution C T downstream_gene_variant GBM-US 3 69120763 69120763 single base substitution C T exon_variant GBM-US 3 69120763 69120763 single base substitution C T intron_variant GBM-US 3 69120763 69120763 single base substitution C T synonymous_variant L49L 147G>A GBM-US 3 69120763 69120763 single base substitution C T synonymous_variant L76L 228G>A GBM-US 3 69120763 69120763 single base substitution C T synonymous_variant L90L 270G>A KIRP-US 3 69101211 69101211 single base substitution G A downstream_gene_variant LAML-KR 3 69113153 69113153 single base substitution T C intron_variant LAML-KR 3 69127133 69127133 single base substitution T C downstream_gene_variant LAML-KR 3 69127133 69127133 single base substitution T C intron_variant LICA-CN 3 69101134 69101134 single base substitution G C downstream_gene_variant LICA-CN 3 69112243 69112243 single base substitution T C 3_prime_UTR_variant LICA-CN 3 69112243 69112243 single base substitution T C exon_variant LICA-CN 3 69112243 69112243 single base substitution T C missense_variant I154V 460A>G LICA-CN 3 69112243 69112243 single base substitution T C missense_variant I181V 541A>G LICA-CN 3 69112243 69112243 single base substitution T C missense_variant I18V 52A>G LICA-CN 3 69112243 69112243 single base substitution T C missense_variant I195V 583A>G LICA-FR 3 69105965 69105965 single base substitution A G downstream_gene_variant LICA-FR 3 69105965 69105965 single base substitution A G splice_region_variant LICA-FR 3 69110990 69110990 single base substitution C T 3_prime_UTR_variant LICA-FR 3 69110990 69110990 single base substitution C T exon_variant LICA-FR 3 69110990 69110990 single base substitution C T synonymous_variant R118R 354G>A LICA-FR 3 69110990 69110990 single base substitution C T synonymous_variant R254R 762G>A LICA-FR 3 69110990 69110990 single base substitution C T synonymous_variant R281R 843G>A LICA-FR 3 69110990 69110990 single base substitution C T synonymous_variant R295R 885G>A LICA-FR 3 69111309 69111309 single base substitution T C 3_prime_UTR_variant LICA-FR 3 69111309 69111309 single base substitution T C exon_variant LICA-FR 3 69111309 69111309 single base substitution T C missense_variant I198V 592A>G LICA-FR 3 69111309 69111309 single base substitution T C missense_variant I225V 673A>G LICA-FR 3 69111309 69111309 single base substitution T C missense_variant I239V 715A>G LICA-FR 3 69111309 69111309 single base substitution T C missense_variant I62V 184A>G LICA-FR 3 69124988 69124988 single base substitution T C downstream_gene_variant LICA-FR 3 69124988 69124988 single base substitution T C intron_variant LICA-FR 3 69126436 69126436 single base substitution T C downstream_gene_variant LICA-FR 3 69126436 69126436 single base substitution T C intron_variant LINC-JP 3 69100368 69100368 single base substitution C G downstream_gene_variant LINC-JP 3 69104554 69104554 single base substitution T C 3_prime_UTR_variant LINC-JP 3 69105051 69105051 single base substitution T C 3_prime_UTR_variant LINC-JP 3 69105051 69105051 single base substitution T C synonymous_variant V241V 723A>G LINC-JP 3 69105051 69105051 single base substitution T C synonymous_variant V377V 1131A>G LINC-JP 3 69105051 69105051 single base substitution T C synonymous_variant V404V 1212A>G LINC-JP 3 69105051 69105051 single base substitution T C synonymous_variant V418V 1254A>G LINC-JP 3 69112658 69112658 single base substitution C A splice_region_variant LINC-JP 3 69112682 69112682 single base substitution G A intron_variant LINC-JP 3 69118272 69118272 single base substitution C T downstream_gene_variant LINC-JP 3 69118272 69118272 single base substitution C T intron_variant LINC-JP 3 69124892 69124892 single base substitution C T downstream_gene_variant LINC-JP 3 69124892 69124892 single base substitution C T intron_variant LINC-JP 3 69124893 69124893 single base substitution T C downstream_gene_variant LINC-JP 3 69124893 69124893 single base substitution T C intron_variant LINC-JP 3 69126524 69126524 single base substitution T C downstream_gene_variant LINC-JP 3 69126524 69126524 single base substitution T C exon_variant LINC-JP 3 69126524 69126524 single base substitution T C intron_variant LINC-JP 3 69127144 69127144 single base substitution C G downstream_gene_variant LINC-JP 3 69127144 69127144 single base substitution C G intron_variant LIRI-JP 3 69099353 69099353 single base substitution G A downstream_gene_variant LIRI-JP 3 69103258 69103258 single base substitution T C downstream_gene_variant LIRI-JP 3 69104586 69104586 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 69106900 69106900 single base substitution T C downstream_gene_variant LIRI-JP 3 69106900 69106900 single base substitution T C intron_variant LIRI-JP 3 69111270 69111270 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 69111270 69111270 single base substitution A G exon_variant LIRI-JP 3 69111270 69111270 single base substitution A G missense_variant Y211H 631T>C LIRI-JP 3 69111270 69111270 single base substitution A G missense_variant Y238H 712T>C LIRI-JP 3 69111270 69111270 single base substitution A G missense_variant Y252H 754T>C LIRI-JP 3 69111270 69111270 single base substitution A G missense_variant Y75H 223T>C LIRI-JP 3 69111333 69111333 deletion of <=200bp A - splice_region_variant LIRI-JP 3 69112220 69112220 deletion of <=200bp C - 3_prime_UTR_variant LIRI-JP 3 69112220 69112220 deletion of <=200bp C - exon_variant LIRI-JP 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G161 LIRI-JP 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G188 LIRI-JP 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G202 LIRI-JP 3 69112220 69112220 deletion of <=200bp C - frameshift_variant G25 LIRI-JP 3 69112253 69112253 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 69112253 69112253 single base substitution A G exon_variant LIRI-JP 3 69112253 69112253 single base substitution A G synonymous_variant D14D 42T>C LIRI-JP 3 69112253 69112253 single base substitution A G synonymous_variant D150D 450T>C LIRI-JP 3 69112253 69112253 single base substitution A G synonymous_variant D177D 531T>C LIRI-JP 3 69112253 69112253 single base substitution A G synonymous_variant D191D 573T>C LIRI-JP 3 69112725 69112725 single base substitution C A intron_variant LIRI-JP 3 69113453 69113453 single base substitution T G intron_variant LIRI-JP 3 69113453 69113453 single base substitution T G upstream_gene_variant LIRI-JP 3 69113767 69113767 single base substitution G A intron_variant LIRI-JP 3 69113767 69113767 single base substitution G A upstream_gene_variant LIRI-JP 3 69114283 69114283 single base substitution C T intron_variant LIRI-JP 3 69114283 69114283 single base substitution C T upstream_gene_variant LIRI-JP 3 69116322 69116322 single base substitution T C downstream_gene_variant LIRI-JP 3 69116322 69116322 single base substitution T C intron_variant LIRI-JP 3 69116322 69116322 single base substitution T C upstream_gene_variant LIRI-JP 3 69117126 69117126 single base substitution A T downstream_gene_variant LIRI-JP 3 69117126 69117126 single base substitution A T intron_variant LIRI-JP 3 69117126 69117126 single base substitution A T synonymous_variant V113V 339T>A LIRI-JP 3 69117126 69117126 single base substitution A T synonymous_variant V127V 381T>A LIRI-JP 3 69117126 69117126 single base substitution A T synonymous_variant V86V 258T>A LIRI-JP 3 69117126 69117126 single base substitution A T upstream_gene_variant LIRI-JP 3 69117221 69117221 single base substitution T C downstream_gene_variant LIRI-JP 3 69117221 69117221 single base substitution T C intron_variant LIRI-JP 3 69117221 69117221 single base substitution T C upstream_gene_variant LIRI-JP 3 69118719 69118719 single base substitution C T downstream_gene_variant LIRI-JP 3 69118719 69118719 single base substitution C T intron_variant LIRI-JP 3 69121238 69121238 single base substitution G A downstream_gene_variant LIRI-JP 3 69121238 69121238 single base substitution G A intron_variant LIRI-JP 3 69123845 69123845 single base substitution T C downstream_gene_variant LIRI-JP 3 69123845 69123845 single base substitution T C intron_variant LIRI-JP 3 69124559 69124559 single base substitution T C downstream_gene_variant LIRI-JP 3 69124559 69124559 single base substitution T C exon_variant LIRI-JP 3 69124559 69124559 single base substitution T C intron_variant LIRI-JP 3 69124975 69124975 single base substitution C A downstream_gene_variant LIRI-JP 3 69124975 69124975 single base substitution C A intron_variant LIRI-JP 3 69127494 69127494 single base substitution T C downstream_gene_variant LIRI-JP 3 69127494 69127494 single base substitution T C intron_variant LIRI-JP 3 69128935 69128935 single base substitution A G exon_variant LIRI-JP 3 69128935 69128935 single base substitution A G intron_variant LIRI-JP 3 69130854 69130854 single base substitution G A upstream_gene_variant LIRI-JP 3 69131914 69131931 deletion of <=200bp GTTTAAACCTCTAAAGAG - upstream_gene_variant LUSC-KR 3 69104491 69104491 single base substitution C A 3_prime_UTR_variant LUSC-KR 3 69106618 69106618 single base substitution C T downstream_gene_variant LUSC-KR 3 69106618 69106618 single base substitution C T intron_variant LUSC-KR 3 69110111 69110111 single base substitution C A downstream_gene_variant LUSC-KR 3 69110111 69110111 single base substitution C A intron_variant LUSC-KR 3 69113185 69113185 single base substitution T A intron_variant LUSC-KR 3 69116319 69116319 single base substitution C A downstream_gene_variant LUSC-KR 3 69116319 69116319 single base substitution C A intron_variant LUSC-KR 3 69116319 69116319 single base substitution C A upstream_gene_variant LUSC-KR 3 69118185 69118185 single base substitution T C downstream_gene_variant LUSC-KR 3 69118185 69118185 single base substitution T C intron_variant LUSC-KR 3 69118185 69118185 single base substitution T C upstream_gene_variant LUSC-KR 3 69119913 69119913 single base substitution C A downstream_gene_variant LUSC-KR 3 69119913 69119913 single base substitution C A intron_variant LUSC-KR 3 69119921 69119921 single base substitution A G downstream_gene_variant LUSC-KR 3 69119921 69119921 single base substitution A G intron_variant LUSC-KR 3 69120463 69120463 single base substitution G A downstream_gene_variant LUSC-KR 3 69120463 69120463 single base substitution G A exon_variant LUSC-KR 3 69120463 69120463 single base substitution G A intron_variant LUSC-KR 3 69134034 69134034 single base substitution G C upstream_gene_variant LUSC-US 3 69101202 69101202 single base substitution G A downstream_gene_variant LUSC-US 3 69105003 69105003 single base substitution T A missense_variant K257N 771A>T LUSC-US 3 69105003 69105003 single base substitution T A missense_variant K393N 1179A>T LUSC-US 3 69105003 69105003 single base substitution T A missense_variant K420N 1260A>T LUSC-US 3 69105003 69105003 single base substitution T A missense_variant K434N 1302A>T LUSC-US 3 69105003 69105003 single base substitution T A splice_region_variant LUSC-US 3 69111294 69111294 single base substitution T A 3_prime_UTR_variant LUSC-US 3 69111294 69111294 single base substitution T A exon_variant LUSC-US 3 69111294 69111294 single base substitution T A missense_variant R203W 607A>T LUSC-US 3 69111294 69111294 single base substitution T A missense_variant R230W 688A>T LUSC-US 3 69111294 69111294 single base substitution T A missense_variant R244W 730A>T LUSC-US 3 69111294 69111294 single base substitution T A missense_variant R67W 199A>T LUSC-US 3 69112186 69112186 single base substitution G A 3_prime_UTR_variant LUSC-US 3 69112186 69112186 single base substitution G A exon_variant LUSC-US 3 69112186 69112186 single base substitution G A synonymous_variant L173L 517C>T LUSC-US 3 69112186 69112186 single base substitution G A synonymous_variant L200L 598C>T LUSC-US 3 69112186 69112186 single base substitution G A synonymous_variant L214L 640C>T LUSC-US 3 69112186 69112186 single base substitution G A synonymous_variant L37L 109C>T LUSC-US 3 69112255 69112255 single base substitution C A 3_prime_UTR_variant LUSC-US 3 69112255 69112255 single base substitution C A exon_variant LUSC-US 3 69112255 69112255 single base substitution C A missense_variant D14Y 40G>T LUSC-US 3 69112255 69112255 single base substitution C A missense_variant D150Y 448G>T LUSC-US 3 69112255 69112255 single base substitution C A missense_variant D177Y 529G>T LUSC-US 3 69112255 69112255 single base substitution C A missense_variant D191Y 571G>T MALY-DE 3 69101530 69101530 single base substitution C T downstream_gene_variant MALY-DE 3 69104521 69104521 single base substitution G A 3_prime_UTR_variant MALY-DE 3 69109894 69109894 single base substitution C A downstream_gene_variant MALY-DE 3 69109894 69109894 single base substitution C A intron_variant MALY-DE 3 69113756 69113756 single base substitution T C intron_variant MALY-DE 3 69113756 69113756 single base substitution T C upstream_gene_variant MALY-DE 3 69126585 69126585 single base substitution T C downstream_gene_variant MALY-DE 3 69126585 69126585 single base substitution T C exon_variant MALY-DE 3 69126585 69126585 single base substitution T C intron_variant MALY-DE 3 69128991 69128991 single base substitution T G exon_variant MALY-DE 3 69128991 69128991 single base substitution T G intron_variant MALY-DE 3 69134490 69134490 single base substitution C T upstream_gene_variant MELA-AU 3 69099229 69099229 single base substitution G A downstream_gene_variant MELA-AU 3 69101513 69101513 single base substitution G A downstream_gene_variant MELA-AU 3 69101627 69101627 single base substitution G A downstream_gene_variant MELA-AU 3 69102292 69102292 single base substitution G A downstream_gene_variant MELA-AU 3 69102357 69102357 single base substitution A T downstream_gene_variant MELA-AU 3 69102704 69102704 single base substitution G A downstream_gene_variant MELA-AU 3 69103152 69103152 single base substitution G A downstream_gene_variant MELA-AU 3 69103242 69103242 single base substitution G A downstream_gene_variant MELA-AU 3 69103529 69103529 single base substitution T A downstream_gene_variant MELA-AU 3 69104159 69104160 multiple base substitution (>=2bp and <=200bp) GT AG 3_prime_UTR_variant MELA-AU 3 69104159 69104160 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 3 69104313 69104313 single base substitution G A 3_prime_UTR_variant MELA-AU 3 69104313 69104313 single base substitution G A downstream_gene_variant MELA-AU 3 69104602 69104602 single base substitution G A 3_prime_UTR_variant MELA-AU 3 69104602 69104602 single base substitution G A missense_variant H283Y 847C>T MELA-AU 3 69104602 69104602 single base substitution G A missense_variant H419Y 1255C>T MELA-AU 3 69104602 69104602 single base substitution G A missense_variant H446Y 1336C>T MELA-AU 3 69104602 69104602 single base substitution G A missense_variant H460Y 1378C>T MELA-AU 3 69105696 69105696 single base substitution T A intron_variant MELA-AU 3 69105974 69105974 single base substitution G A downstream_gene_variant MELA-AU 3 69105974 69105974 single base substitution G A splice_region_variant MELA-AU 3 69106364 69106364 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 69106364 69106364 deletion of <=200bp A - intron_variant MELA-AU 3 69107269 69107269 single base substitution G A downstream_gene_variant MELA-AU 3 69107269 69107269 single base substitution G A intron_variant MELA-AU 3 69107675 69107675 single base substitution C T downstream_gene_variant MELA-AU 3 69107675 69107675 single base substitution C T intron_variant MELA-AU 3 69108111 69108111 single base substitution G A downstream_gene_variant MELA-AU 3 69108111 69108111 single base substitution G A intron_variant MELA-AU 3 69108154 69108154 single base substitution T G downstream_gene_variant MELA-AU 3 69108154 69108154 single base substitution T G intron_variant MELA-AU 3 69108463 69108463 single base substitution G A downstream_gene_variant MELA-AU 3 69108463 69108463 single base substitution G A intron_variant MELA-AU 3 69108556 69108556 single base substitution G A downstream_gene_variant MELA-AU 3 69108556 69108556 single base substitution G A intron_variant MELA-AU 3 69108837 69108837 single base substitution G A downstream_gene_variant MELA-AU 3 69108837 69108837 single base substitution G A intron_variant MELA-AU 3 69108988 69108988 single base substitution G A downstream_gene_variant MELA-AU 3 69108988 69108988 single base substitution G A intron_variant MELA-AU 3 69109084 69109084 single base substitution G A downstream_gene_variant MELA-AU 3 69109084 69109084 single base substitution G A intron_variant MELA-AU 3 69109085 69109085 single base substitution A T downstream_gene_variant MELA-AU 3 69109085 69109085 single base substitution A T intron_variant MELA-AU 3 69109304 69109304 single base substitution A C downstream_gene_variant MELA-AU 3 69109304 69109304 single base substitution A C intron_variant MELA-AU 3 69109549 69109549 single base substitution A G downstream_gene_variant MELA-AU 3 69109549 69109549 single base substitution A G intron_variant MELA-AU 3 69109735 69109735 single base substitution G A downstream_gene_variant MELA-AU 3 69109735 69109735 single base substitution G A intron_variant MELA-AU 3 69109799 69109799 single base substitution G A downstream_gene_variant MELA-AU 3 69109799 69109799 single base substitution G A intron_variant MELA-AU 3 69109863 69109879 deletion of <=200bp GGAGGTGAGGCCTAGTG - downstream_gene_variant MELA-AU 3 69109863 69109879 deletion of <=200bp GGAGGTGAGGCCTAGTG - intron_variant MELA-AU 3 69110142 69110142 single base substitution C G downstream_gene_variant MELA-AU 3 69110142 69110142 single base substitution C G intron_variant MELA-AU 3 69110210 69110210 single base substitution G A downstream_gene_variant MELA-AU 3 69110210 69110210 single base substitution G A intron_variant MELA-AU 3 69110368 69110368 single base substitution G A downstream_gene_variant MELA-AU 3 69110368 69110368 single base substitution G A intron_variant MELA-AU 3 69110598 69110598 single base substitution G A downstream_gene_variant MELA-AU 3 69110598 69110598 single base substitution G A intron_variant MELA-AU 3 69110606 69110606 single base substitution G A downstream_gene_variant MELA-AU 3 69110606 69110606 single base substitution G A intron_variant MELA-AU 3 69111050 69111050 single base substitution A G 3_prime_UTR_variant MELA-AU 3 69111050 69111050 single base substitution A G exon_variant MELA-AU 3 69111050 69111050 single base substitution A G synonymous_variant P234P 702T>C MELA-AU 3 69111050 69111050 single base substitution A G synonymous_variant P261P 783T>C MELA-AU 3 69111050 69111050 single base substitution A G synonymous_variant P275P 825T>C MELA-AU 3 69111050 69111050 single base substitution A G synonymous_variant P98P 294T>C MELA-AU 3 69111096 69111096 single base substitution G A intron_variant MELA-AU 3 69112027 69112027 single base substitution A G intron_variant MELA-AU 3 69112060 69112060 single base substitution A C intron_variant MELA-AU 3 69112308 69112308 single base substitution G A intron_variant MELA-AU 3 69112326 69112326 single base substitution G A intron_variant MELA-AU 3 69114013 69114013 single base substitution A G intron_variant MELA-AU 3 69114013 69114013 single base substitution A G upstream_gene_variant MELA-AU 3 69115611 69115611 single base substitution T C downstream_gene_variant MELA-AU 3 69115611 69115611 single base substitution T C intron_variant MELA-AU 3 69115611 69115611 single base substitution T C upstream_gene_variant MELA-AU 3 69115853 69115853 single base substitution G A downstream_gene_variant MELA-AU 3 69115853 69115853 single base substitution G A intron_variant MELA-AU 3 69115853 69115853 single base substitution G A upstream_gene_variant MELA-AU 3 69116785 69116785 single base substitution G A downstream_gene_variant MELA-AU 3 69116785 69116785 single base substitution G A intron_variant MELA-AU 3 69116785 69116785 single base substitution G A upstream_gene_variant MELA-AU 3 69116787 69116787 single base substitution A T downstream_gene_variant MELA-AU 3 69116787 69116787 single base substitution A T intron_variant MELA-AU 3 69116787 69116787 single base substitution A T upstream_gene_variant MELA-AU 3 69117030 69117030 single base substitution G A downstream_gene_variant MELA-AU 3 69117030 69117030 single base substitution G A intron_variant MELA-AU 3 69117030 69117030 single base substitution G A upstream_gene_variant MELA-AU 3 69117206 69117206 single base substitution G A downstream_gene_variant MELA-AU 3 69117206 69117206 single base substitution G A intron_variant MELA-AU 3 69117206 69117206 single base substitution G A upstream_gene_variant MELA-AU 3 69117529 69117529 single base substitution T C downstream_gene_variant MELA-AU 3 69117529 69117529 single base substitution T C intron_variant MELA-AU 3 69117529 69117529 single base substitution T C upstream_gene_variant MELA-AU 3 69118163 69118163 single base substitution G A downstream_gene_variant MELA-AU 3 69118163 69118163 single base substitution G A intron_variant MELA-AU 3 69118163 69118163 single base substitution G A upstream_gene_variant MELA-AU 3 69118843 69118843 single base substitution C T downstream_gene_variant MELA-AU 3 69118843 69118843 single base substitution C T intron_variant MELA-AU 3 69119203 69119203 single base substitution G C downstream_gene_variant MELA-AU 3 69119203 69119203 single base substitution G C intron_variant MELA-AU 3 69119878 69119878 single base substitution A G downstream_gene_variant MELA-AU 3 69119878 69119878 single base substitution A G intron_variant MELA-AU 3 69120093 69120094 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 69120093 69120094 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 69120441 69120441 single base substitution A G downstream_gene_variant MELA-AU 3 69120441 69120441 single base substitution A G exon_variant MELA-AU 3 69120441 69120441 single base substitution A G intron_variant MELA-AU 3 69120463 69120463 single base substitution G A downstream_gene_variant MELA-AU 3 69120463 69120463 single base substitution G A exon_variant MELA-AU 3 69120463 69120463 single base substitution G A intron_variant MELA-AU 3 69120578 69120578 single base substitution T C downstream_gene_variant MELA-AU 3 69120578 69120578 single base substitution T C exon_variant MELA-AU 3 69120578 69120578 single base substitution T C intron_variant MELA-AU 3 69120799 69120799 single base substitution G A downstream_gene_variant MELA-AU 3 69120799 69120799 single base substitution G A intron_variant MELA-AU 3 69120915 69120915 single base substitution G A downstream_gene_variant MELA-AU 3 69120915 69120915 single base substitution G A intron_variant MELA-AU 3 69121309 69121309 single base substitution G A downstream_gene_variant MELA-AU 3 69121309 69121309 single base substitution G A intron_variant MELA-AU 3 69122735 69122735 single base substitution G A downstream_gene_variant MELA-AU 3 69122735 69122735 single base substitution G A intron_variant MELA-AU 3 69122742 69122742 single base substitution G A downstream_gene_variant MELA-AU 3 69122742 69122742 single base substitution G A intron_variant MELA-AU 3 69124526 69124526 single base substitution G A downstream_gene_variant MELA-AU 3 69124526 69124526 single base substitution G A exon_variant MELA-AU 3 69124526 69124526 single base substitution G A intron_variant MELA-AU 3 69124778 69124778 single base substitution A T downstream_gene_variant MELA-AU 3 69124778 69124778 single base substitution A T intron_variant MELA-AU 3 69125136 69125136 single base substitution C T downstream_gene_variant MELA-AU 3 69125136 69125136 single base substitution C T intron_variant MELA-AU 3 69125240 69125240 single base substitution G A downstream_gene_variant MELA-AU 3 69125240 69125240 single base substitution G A intron_variant MELA-AU 3 69125847 69125847 single base substitution G A downstream_gene_variant MELA-AU 3 69125847 69125847 single base substitution G A intron_variant MELA-AU 3 69125930 69125930 single base substitution G A downstream_gene_variant MELA-AU 3 69125930 69125930 single base substitution G A intron_variant MELA-AU 3 69126983 69126983 single base substitution G A 5_prime_UTR_variant MELA-AU 3 69126983 69126983 single base substitution G A downstream_gene_variant MELA-AU 3 69126983 69126983 single base substitution G A exon_variant MELA-AU 3 69126983 69126983 single base substitution G A missense_variant P36L 107C>T MELA-AU 3 69126983 69126983 single base substitution G A missense_variant P50L 149C>T MELA-AU 3 69127354 69127354 single base substitution G A downstream_gene_variant MELA-AU 3 69127354 69127354 single base substitution G A intron_variant MELA-AU 3 69128541 69128541 single base substitution T C downstream_gene_variant MELA-AU 3 69128541 69128541 single base substitution T C intron_variant MELA-AU 3 69129376 69129376 single base substitution G A intron_variant MELA-AU 3 69130139 69130139 single base substitution G A upstream_gene_variant MELA-AU 3 69130536 69130536 single base substitution G A upstream_gene_variant MELA-AU 3 69130737 69130737 single base substitution A G upstream_gene_variant MELA-AU 3 69130750 69130750 single base substitution C T upstream_gene_variant MELA-AU 3 69131108 69131108 single base substitution C A upstream_gene_variant MELA-AU 3 69132158 69132158 single base substitution T G upstream_gene_variant MELA-AU 3 69132973 69132973 single base substitution T A upstream_gene_variant MELA-AU 3 69133088 69133088 single base substitution C T upstream_gene_variant MELA-AU 3 69133646 69133646 single base substitution C A upstream_gene_variant ORCA-IN 3 69102680 69102680 single base substitution T G downstream_gene_variant OV-AU 3 69101426 69101426 single base substitution G C downstream_gene_variant OV-AU 3 69101643 69101643 single base substitution C T downstream_gene_variant OV-AU 3 69103171 69103171 single base substitution T C downstream_gene_variant OV-AU 3 69108090 69108090 single base substitution G C downstream_gene_variant OV-AU 3 69108090 69108090 single base substitution G C intron_variant OV-AU 3 69110012 69110012 single base substitution C A downstream_gene_variant OV-AU 3 69110012 69110012 single base substitution C A intron_variant OV-AU 3 69112402 69112402 single base substitution A T intron_variant OV-AU 3 69118899 69118899 single base substitution T C downstream_gene_variant OV-AU 3 69118899 69118899 single base substitution T C intron_variant OV-AU 3 69131077 69131077 single base substitution G T upstream_gene_variant OV-AU 3 69131355 69131355 single base substitution G A upstream_gene_variant OV-AU 3 69133489 69133489 single base substitution C A upstream_gene_variant PACA-AU 3 69099012 69099012 single base substitution G A downstream_gene_variant PACA-AU 3 69105310 69105310 single base substitution A G intron_variant PACA-AU 3 69108956 69108956 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 69108956 69108956 deletion of <=200bp A - intron_variant PACA-AU 3 69120041 69120041 single base substitution C G downstream_gene_variant PACA-AU 3 69120041 69120041 single base substitution C G intron_variant PACA-AU 3 69124711 69124711 single base substitution C T downstream_gene_variant PACA-AU 3 69124711 69124711 single base substitution C T intron_variant PACA-AU 3 69125700 69125700 single base substitution G A downstream_gene_variant PACA-AU 3 69125700 69125700 single base substitution G A intron_variant PACA-CA 3 69101173 69101173 single base substitution T G downstream_gene_variant PACA-CA 3 69106458 69106458 single base substitution C T downstream_gene_variant PACA-CA 3 69106458 69106458 single base substitution C T missense_variant V128I 382G>A PACA-CA 3 69106458 69106458 single base substitution C T missense_variant V264I 790G>A PACA-CA 3 69106458 69106458 single base substitution C T missense_variant V291I 871G>A PACA-CA 3 69106458 69106458 single base substitution C T missense_variant V305I 913G>A PACA-CA 3 69106458 69106458 single base substitution C T splice_region_variant PACA-CA 3 69106469 69106469 single base substitution A C downstream_gene_variant PACA-CA 3 69106469 69106469 single base substitution A C intron_variant PACA-CA 3 69112640 69112640 single base substitution C T 5_prime_UTR_variant PACA-CA 3 69112640 69112640 single base substitution C T exon_variant PACA-CA 3 69112640 69112640 single base substitution C T missense_variant V122I 364G>A PACA-CA 3 69112640 69112640 single base substitution C T missense_variant V149I 445G>A PACA-CA 3 69112640 69112640 single base substitution C T missense_variant V163I 487G>A PACA-CA 3 69114472 69114472 single base substitution G A intron_variant PACA-CA 3 69114472 69114472 single base substitution G A upstream_gene_variant PACA-CA 3 69115303 69115303 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 69115303 69115303 insertion of <=200bp - A intron_variant PACA-CA 3 69115303 69115303 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 69115534 69115534 single base substitution T G downstream_gene_variant PACA-CA 3 69115534 69115534 single base substitution T G intron_variant PACA-CA 3 69115534 69115534 single base substitution T G upstream_gene_variant PACA-CA 3 69116398 69116398 single base substitution A G downstream_gene_variant PACA-CA 3 69116398 69116398 single base substitution A G intron_variant PACA-CA 3 69116398 69116398 single base substitution A G upstream_gene_variant PACA-CA 3 69120804 69120804 single base substitution T C downstream_gene_variant PACA-CA 3 69120804 69120804 single base substitution T C intron_variant PACA-CA 3 69127404 69127404 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 69127404 69127404 deletion of <=200bp A - intron_variant PACA-CA 3 69128446 69128446 single base substitution A C downstream_gene_variant PACA-CA 3 69128446 69128446 single base substitution A C intron_variant PAEN-AU 3 69104820 69104820 single base substitution A G intron_variant PAEN-AU 3 69109284 69109284 single base substitution C G downstream_gene_variant PAEN-AU 3 69109284 69109284 single base substitution C G intron_variant PBCA-DE 3 69115874 69115874 single base substitution C T downstream_gene_variant PBCA-DE 3 69115874 69115874 single base substitution C T intron_variant PBCA-DE 3 69115874 69115874 single base substitution C T upstream_gene_variant PBCA-DE 3 69120336 69120336 single base substitution T C downstream_gene_variant PBCA-DE 3 69120336 69120336 single base substitution T C exon_variant PBCA-DE 3 69120336 69120336 single base substitution T C intron_variant PBCA-DE 3 69131797 69131797 insertion of <=200bp - A upstream_gene_variant PRAD-CA 3 69120331 69120331 single base substitution C A downstream_gene_variant PRAD-CA 3 69120331 69120331 single base substitution C A exon_variant PRAD-CA 3 69120331 69120331 single base substitution C A intron_variant PRAD-CA 3 69124892 69124892 single base substitution C T downstream_gene_variant PRAD-CA 3 69124892 69124892 single base substitution C T intron_variant PRAD-UK 3 69110666 69110666 single base substitution T C downstream_gene_variant PRAD-UK 3 69110666 69110666 single base substitution T C intron_variant PRAD-UK 3 69129337 69129337 single base substitution G A intron_variant PRAD-UK 3 69131751 69131751 single base substitution T C upstream_gene_variant RECA-EU 3 69111513 69111513 single base substitution C A intron_variant RECA-EU 3 69112706 69112706 single base substitution T A intron_variant RECA-EU 3 69116349 69116349 single base substitution A G downstream_gene_variant RECA-EU 3 69116349 69116349 single base substitution A G intron_variant RECA-EU 3 69116349 69116349 single base substitution A G upstream_gene_variant SKCA-BR 3 69101513 69101513 single base substitution G A downstream_gene_variant SKCA-BR 3 69102714 69102714 single base substitution A T downstream_gene_variant SKCA-BR 3 69103441 69103441 single base substitution C G downstream_gene_variant SKCA-BR 3 69104624 69104624 single base substitution T G 3_prime_UTR_variant SKCA-BR 3 69104624 69104624 single base substitution T G synonymous_variant P275P 825A>C SKCA-BR 3 69104624 69104624 single base substitution T G synonymous_variant P411P 1233A>C SKCA-BR 3 69104624 69104624 single base substitution T G synonymous_variant P438P 1314A>C SKCA-BR 3 69104624 69104624 single base substitution T G synonymous_variant P452P 1356A>C SKCA-BR 3 69117651 69117651 single base substitution G A downstream_gene_variant SKCA-BR 3 69117651 69117651 single base substitution G A intron_variant SKCA-BR 3 69117651 69117651 single base substitution G A upstream_gene_variant SKCA-BR 3 69119241 69119241 single base substitution G A downstream_gene_variant SKCA-BR 3 69119241 69119241 single base substitution G A intron_variant SKCA-BR 3 69123469 69123469 single base substitution A C downstream_gene_variant SKCA-BR 3 69123469 69123469 single base substitution A C intron_variant SKCA-BR 3 69129599 69129599 single base substitution A G upstream_gene_variant SKCA-BR 3 69132346 69132346 single base substitution G A upstream_gene_variant SKCA-BR 3 69132663 69132663 single base substitution C T upstream_gene_variant SKCM-US 3 69105771 69105771 single base substitution C T 3_prime_UTR_variant SKCM-US 3 69105771 69105771 single base substitution C T downstream_gene_variant SKCM-US 3 69105771 69105771 single base substitution C T missense_variant E182K 544G>A SKCM-US 3 69105771 69105771 single base substitution C T missense_variant E318K 952G>A SKCM-US 3 69105771 69105771 single base substitution C T missense_variant E345K 1033G>A SKCM-US 3 69105771 69105771 single base substitution C T missense_variant E359K 1075G>A SKCM-US 3 69111006 69111006 single base substitution G A 3_prime_UTR_variant SKCM-US 3 69111006 69111006 single base substitution G A exon_variant SKCM-US 3 69111006 69111006 single base substitution G A missense_variant S113L 338C>T SKCM-US 3 69111006 69111006 single base substitution G A missense_variant S249L 746C>T SKCM-US 3 69111006 69111006 single base substitution G A missense_variant S276L 827C>T SKCM-US 3 69111006 69111006 single base substitution G A missense_variant S290L 869C>T SKCM-US 3 69111302 69111302 single base substitution G A 3_prime_UTR_variant SKCM-US 3 69111302 69111302 single base substitution G A exon_variant SKCM-US 3 69111302 69111302 single base substitution G A missense_variant S200F 599C>T SKCM-US 3 69111302 69111302 single base substitution G A missense_variant S227F 680C>T SKCM-US 3 69111302 69111302 single base substitution G A missense_variant S241F 722C>T SKCM-US 3 69111302 69111302 single base substitution G A missense_variant S64F 191C>T SKCM-US 3 69111310 69111310 single base substitution G A 3_prime_UTR_variant SKCM-US 3 69111310 69111310 single base substitution G A exon_variant SKCM-US 3 69111310 69111310 single base substitution G A synonymous_variant T197T 591C>T SKCM-US 3 69111310 69111310 single base substitution G A synonymous_variant T224T 672C>T SKCM-US 3 69111310 69111310 single base substitution G A synonymous_variant T238T 714C>T SKCM-US 3 69111310 69111310 single base substitution G A synonymous_variant T61T 183C>T SKCM-US 3 69111322 69111322 single base substitution A G 3_prime_UTR_variant SKCM-US 3 69111322 69111322 single base substitution A G exon_variant SKCM-US 3 69111322 69111322 single base substitution A G synonymous_variant F193F 579T>C SKCM-US 3 69111322 69111322 single base substitution A G synonymous_variant F220F 660T>C SKCM-US 3 69111322 69111322 single base substitution A G synonymous_variant F234F 702T>C SKCM-US 3 69111322 69111322 single base substitution A G synonymous_variant F57F 171T>C SKCM-US 3 69112140 69112140 single base substitution G A 3_prime_UTR_variant SKCM-US 3 69112140 69112140 single base substitution G A exon_variant SKCM-US 3 69112140 69112140 single base substitution G A missense_variant P188L 563C>T SKCM-US 3 69112140 69112140 single base substitution G A missense_variant P215L 644C>T SKCM-US 3 69112140 69112140 single base substitution G A missense_variant P229L 686C>T SKCM-US 3 69112140 69112140 single base substitution G A missense_variant P52L 155C>T SKCM-US 3 69112244 69112244 single base substitution G A 3_prime_UTR_variant SKCM-US 3 69112244 69112244 single base substitution G A exon_variant SKCM-US 3 69112244 69112244 single base substitution G A synonymous_variant S153S 459C>T SKCM-US 3 69112244 69112244 single base substitution G A synonymous_variant S17S 51C>T SKCM-US 3 69112244 69112244 single base substitution G A synonymous_variant S180S 540C>T SKCM-US 3 69112244 69112244 single base substitution G A synonymous_variant S194S 582C>T SKCM-US 3 69112644 69112649 deletion of <=200bp AATATG - 5_prime_UTR_variant SKCM-US 3 69112644 69112649 deletion of <=200bp AATATG - exon_variant SKCM-US 3 69112644 69112649 deletion of <=200bp AATATG - inframe_deletion HI119 SKCM-US 3 69112644 69112649 deletion of <=200bp AATATG - inframe_deletion HI146 SKCM-US 3 69112644 69112649 deletion of <=200bp AATATG - inframe_deletion HI160 SKCM-US 3 69126959 69126959 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 69126959 69126959 single base substitution G A downstream_gene_variant SKCM-US 3 69126959 69126959 single base substitution G A exon_variant SKCM-US 3 69126959 69126959 single base substitution G A missense_variant P44L 131C>T SKCM-US 3 69126959 69126959 single base substitution G A missense_variant P58L 173C>T SKCM-US 3 69127023 69127023 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 69127023 69127023 single base substitution G A downstream_gene_variant SKCM-US 3 69127023 69127023 single base substitution G A exon_variant SKCM-US 3 69127023 69127023 single base substitution G A missense_variant R23C 67C>T SKCM-US 3 69127023 69127023 single base substitution G A missense_variant R37C 109C>T STAD-US 3 69101186 69101186 single base substitution A G downstream_gene_variant STAD-US 3 69105035 69105035 single base substitution G A 3_prime_UTR_variant STAD-US 3 69105035 69105035 single base substitution G A stop_gained R247* 739C>T STAD-US 3 69105035 69105035 single base substitution G A stop_gained R383* 1147C>T STAD-US 3 69105035 69105035 single base substitution G A stop_gained R410* 1228C>T STAD-US 3 69105035 69105035 single base substitution G A stop_gained R424* 1270C>T STAD-US 3 69129290 69129292 deletion of <=200bp CTT - disruptive_inframe_deletion RR11R STAD-US 3 69129290 69129292 deletion of <=200bp CTT - exon_variant STAD-US 3 69129290 69129292 deletion of <=200bp CTT - intron_variant STAD-US 3 69134225 69134225 single base substitution C T upstream_gene_variant UCEC-US 3 69101175 69101175 single base substitution C T downstream_gene_variant UCEC-US 3 69106448 69106448 single base substitution C A 3_prime_UTR_variant UCEC-US 3 69106448 69106448 single base substitution C A downstream_gene_variant UCEC-US 3 69106448 69106448 single base substitution C A missense_variant R131I 392G>T UCEC-US 3 69106448 69106448 single base substitution C A missense_variant R267I 800G>T UCEC-US 3 69106448 69106448 single base substitution C A missense_variant R294I 881G>T UCEC-US 3 69106448 69106448 single base substitution C A missense_variant R308I 923G>T UCEC-US 3 69110976 69110976 single base substitution C A 3_prime_UTR_variant UCEC-US 3 69110976 69110976 single base substitution C A exon_variant UCEC-US 3 69110976 69110976 single base substitution C A missense_variant R123M 368G>T UCEC-US 3 69110976 69110976 single base substitution C A missense_variant R259M 776G>T UCEC-US 3 69110976 69110976 single base substitution C A missense_variant R286M 857G>T UCEC-US 3 69110976 69110976 single base substitution C A missense_variant R300M 899G>T UCEC-US 3 69112215 69112215 single base substitution T G 3_prime_UTR_variant UCEC-US 3 69112215 69112215 single base substitution T G exon_variant UCEC-US 3 69112215 69112215 single base substitution T G missense_variant E163A 488A>C UCEC-US 3 69112215 69112215 single base substitution T G missense_variant E190A 569A>C UCEC-US 3 69112215 69112215 single base substitution T G missense_variant E204A 611A>C UCEC-US 3 69112215 69112215 single base substitution T G missense_variant E27A 80A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUKLAB COSM1693002 c.427C>T p.P143S Substitution - Missense 3:69067929-69067929 - 2521260 COSM5895323 c.473-5delT p.? Unknown 3:69063508-69063508 - HCC2998 COSM1670340 c.1075G>A p.E359K Substitution - Missense 3:69056620-69056620 - NPC10F COSM4996366 c.544C>T p.L182F Substitution - Missense 3:69063131-69063131 - ML_15_T_01 COSM5033700 c.1356A>C p.P452P Substitution - coding silent 3:69055473-69055473 - WSU-HN13 COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - TCGA-EE-A29D-06 COSM3597244 c.686C>T p.P229L Substitution - Missense 3:69062989-69062989 - TCGA-D3-A1Q6-06 COSM3597241 c.869C>T p.S290L Substitution - Missense 3:69061855-69061855 - 2521252 COSM5895323 c.473-5delT p.? Unknown 3:69063508-69063508 - CHC1604T COSM4787860 c.966T>C p.A322A Substitution - coding silent 3:69056814-69056814 - BICR_22 COSM4593512 c.2T>G p.M1R Substitution - Missense 3:69080352-69080352 - TCGA-EE-A2MR-06 COSM1670340 c.1075G>A p.E359K Substitution - Missense 3:69056620-69056620 - TCGA-CG-4305-01 COSM4119997 c.1270C>T p.R424* Substitution - Nonsense 3:69055884-69055884 - UM-SCC-4 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - RK038_C01 COSM3702475 c.754T>C p.Y252H Substitution - Missense 3:69062119-69062119 - YUPAT COSM1693001 c.631C>T p.R211W Substitution - Missense 3:69063044-69063044 - TCGA-51-4080-01 COSM731655 c.730A>T p.R244W Substitution - Missense 3:69062143-69062143 - TCGA-74-6578-01 COSM3408874 c.270G>A p.L90L Substitution - coding silent 3:69071612-69071612 - ORL-48 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - BD72T COSM5511905 c.1083+6T>C p.? Unknown 3:69056606-69056606 - 587226 COSM1231517 c.952G>T p.A318S Substitution - Missense 3:69057268-69057268 - 19M COSM5579921 c.1173T>C p.N391N Substitution - coding silent 3:69056194-69056194 - CAL33 COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - cSCCP8 COSM140453 c.1299G>T p.L433F Substitution - Missense 3:69055855-69055855 - PCSI_0280_Pa_P_526 COSM4807661 c.911-9T>G p.? Unknown 3:69057318-69057318 - WSU-HN8 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - TCGA-18-5595-01 COSM731656 c.1302A>T p.K434N Substitution - Missense 3:69055852-69055852 - UPCI:SCC090 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - CHC303T COSM4957901 c.715A>G p.I239V Substitution - Missense 3:69062158-69062158 - TCGA-DK-A1AC-01 COSM1309456 c.685C>A p.P229T Substitution - Missense 3:69062990-69062990 - SCC-15 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - HCC22T COSM3746640 c.473-4G>T p.? Unknown 3:69063507-69063507 - PT33 COSM5908354 c.348-7C>T p.? Unknown 3:69068015-69068015 - CHC892T COSM4794567 c.885G>A p.R295R Substitution - coding silent 3:69061839-69061839 - T98G COSM2784463 c.471A>C p.R157R Substitution - coding silent 3:69064069-69064069 - HCC2998 COSM1670340 c.1075G>A p.E359K Substitution - Missense 3:69056620-69056620 - HCC133T COSM1618021 c.1254A>G p.V418V Substitution - coding silent 3:69055900-69055900 - TCGA-D3-A2JF-06 COSM3597242 c.714C>T p.T238T Substitution - coding silent 3:69062159-69062159 - 587316 COSM1180962 c.797-7delT p.? Unknown 3:69061934-69061934 - NOKSI COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - TCGA-DK-A3IT-01 COSM1309458 c.187C>G p.L63V Substitution - Missense 3:69075507-69075507 - B81-2 COSM1753375 c.1199C>T p.P400L Substitution - Missense 3:69056049-69056049 - S01563 COSM316323 c.209G>T p.C70F Substitution - Missense 3:69075485-69075485 - UM-SCC-17B COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - TCGA-GV-A3QI-01 COSM1309457 c.465C>T p.F155F Substitution - coding silent 3:69064075-69064075 - TCGA-20-0990-01 COSM73175 c.746G>A p.C249Y Substitution - Missense 3:69062127-69062127 - 6481_PT COSM5756352 c.1223G>A p.G408E Substitution - Missense 3:69056025-69056025 - Patient5_Tu COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - LU-1991 COSM5615312 c.27G>T p.K9N Substitution - Missense 3:69080147-69080147 - HCT8 COSM4635048 c.769C>T p.Q257* Substitution - Nonsense 3:69062104-69062104 - 53M COSM2784473 c.132C>T p.F44F Substitution - coding silent 3:69077849-69077849 - HCC2998 COSM1670341 c.526A>C p.N176H Substitution - Missense 3:69063450-69063450 - HN_00076 COSM128681 c.8_14delATGGCGA p.D3fs*10 Deletion - Frameshift 3:69080340-69080346 - S00935 COSM316322 c.430C>A p.H144N Substitution - Missense 3:69064110-69064110 - TCGA-AA-A03F-01 COSM301149 c.1078A>C p.R360R Substitution - coding silent 3:69056617-69056617 - 587342 COSM1231518 c.466T>C p.Y156H Substitution - Missense 3:69064074-69064074 - RK060_C01 COSM3702476 c.573T>C p.D191D Substitution - coding silent 3:69063102-69063102 - TCGA-AP-A0LM-01 COSM1048270 c.899G>T p.R300M Substitution - Missense 3:69061825-69061825 - BHY COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - LUAD-S01357 COSM387337 c.632G>T p.R211L Substitution - Missense 3:69063043-69063043 - PT08_1 COSM5892931 c.1017G>T p.L339F Substitution - Missense 3:69056678-69056678 - HCC2998 COSM1670341 c.526A>C p.N176H Substitution - Missense 3:69063450-69063450 - RK308_C01 COSM3767542 c.381T>A p.V127V Substitution - coding silent 3:69067975-69067975 - TCGA-AA-3510-01 COSM173061 c.470G>A p.R157Q Substitution - Missense 3:69064070-69064070 - WSU-HN13 COSM4593512 c.2T>G p.M1R Substitution - Missense 3:69080352-69080352 - HN_62739 COSM130027 c.1294A>T p.T432S Substitution - Missense 3:69055860-69055860 - UD-SCC-2 COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - TCGA-IR-A3LA-01 COSM1309458 c.187C>G p.L63V Substitution - Missense 3:69075507-69075507 - TCGA-FW-A3R5-06 COSM3916632 c.722C>T p.S241F Substitution - Missense 3:69062151-69062151 - HT29 COSM2784473 c.132C>T p.F44F Substitution - coding silent 3:69077849-69077849 - CHC303T COSM4957901 c.715A>G p.I239V Substitution - Missense 3:69062158-69062158 - TCGA-EE-A3JE-06 COSM3916633 c.109C>T p.R37C Substitution - Missense 3:69077872-69077872 - TCGA-AZ-4616-01 COSM3696251 c.1251G>A p.S417S Substitution - coding silent 3:69055903-69055903 - I2L-P19Tb-Tumor-Organoid COSM2784472 c.135C>T p.L45L Substitution - coding silent 3:69077846-69077846 - B104-0-Tumor COSM1753376 c.195C>G p.F65L Substitution - Missense 3:69075499-69075499 - HCC133 COSM1618021 c.1254A>G p.V418V Substitution - coding silent 3:69055900-69055900 - B81-2-Tumor COSM1753375 c.1199C>T p.P400L Substitution - Missense 3:69056049-69056049 - UM-SCC-11B COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - S00501 COSM5701060 c.473-3_473-2insT p.? Unknown 3:69063505-69063506 - HCC83T COSM3746640 c.473-4G>T p.? Unknown 3:69063507-69063507 - UM-SCC-2 COSM4593045 c.9T>G p.D3E Substitution - Missense 3:69080345-69080345 - WSU-HN30 COSM4593512 c.2T>G p.M1R Substitution - Missense 3:69080352-69080352 - CHC892T COSM4794567 c.885G>A p.R295R Substitution - coding silent 3:69061839-69061839 - PCSI_0077_Pa_P_526 COSM4808499 c.487G>A p.V163I Substitution - Missense 3:69063489-69063489 - PTC-6C COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - 93 COSM5014356 c.539T>C p.I180T Substitution - Missense 3:69063136-69063136 - BN24T COSM1180962 c.797-7delT p.? Unknown 3:69061934-69061934 - SCC-9 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - TCGA-EB-A5UN-06 COSM3597243 c.702T>C p.F234F Substitution - coding silent 3:69062171-69062171 - TCGA-37-5819-01 COSM731653 c.571G>T p.D191Y Substitution - Missense 3:69063104-69063104 - 9399_PT COSM5756352 c.1223G>A p.G408E Substitution - Missense 3:69056025-69056025 - TCGA-18-3409-01 COSM731654 c.640C>T p.L214L Substitution - coding silent 3:69063035-69063035 - S00935 COSM316322 c.430C>A p.H144N Substitution - Missense 3:69064110-69064110 - 1N61-VS-1T61 COSM4977786 c.428C>T p.P143L Substitution - Missense 3:69067928-69067928 - TCGA-AA-A010-01 COSM286225 c.1304-6T>C p.? Unknown 3:69055531-69055531 - PCSI_0492_Pa_P_526 COSM4964862 c.913G>A p.V305I Substitution - Missense 3:69057307-69057307 - PT09_1 COSM5895323 c.473-5delT p.? Unknown 3:69063508-69063508 - S02219 COSM5675763 c.441G>T p.K147N Substitution - Missense 3:69064099-69064099 - ICC004T COSM5817496 c.583A>G p.I195V Substitution - Missense 3:69063092-69063092 - S01563 COSM316323 c.209G>T p.C70F Substitution - Missense 3:69075485-69075485 - TCGA-DM-A28M-01 COSM3696252 c.1250C>T p.S417L Substitution - Missense 3:69055904-69055904 - CAL33 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - NOKSI COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - TCGA-AX-A05Z-01 COSM1048269 c.923G>T p.R308I Substitution - Missense 3:69057297-69057297 - SC_9050 COSM5547936 c.473-4delG p.? Unknown 3:69063507-69063507 - CHC1604T COSM4787860 c.966T>C p.A322A Substitution - coding silent 3:69056814-69056814 - B104-0 COSM1753376 c.195C>G p.F65L Substitution - Missense 3:69075499-69075499 - H1703 COSM1196666 c.596T>C p.I199T Substitution - Missense 3:69063079-69063079 - OPM2 COSM1235560 c.14A>G p.E5G Substitution - Missense 3:69080340-69080340 - TCGA-AZ-4315-01 COSM1425199 c.1020T>C p.N340N Substitution - coding silent 3:69056675-69056675 - T1154 COSM4738585 c.606delG p.T203fs*10 Deletion - Frameshift 3:69063069-69063069 - TCGA-EB-A3Y7-01 COSM3597245 c.582C>T p.S194S Substitution - coding silent 3:69063093-69063093 - TCGA-D1-A17H-01 COSM1048271 c.633G>T p.R211R Substitution - coding silent 3:69063042-69063042 - T3024 COSM4738584 c.913_914insG p.V305fs*23 Insertion - Frameshift 3:69057306-69057307 - TCGA-G4-6320-01 COSM4738585 c.606delG p.T203fs*10 Deletion - Frameshift 3:69063069-69063069 - Pat_41_A COSM5865266 c.589C>T p.P197S Substitution - Missense 3:69063086-69063086 - TCGA-EB-A24C-01 COSM3597246 c.173C>T p.P58L Substitution - Missense 3:69077808-69077808 - PT08_2 COSM5892931 c.1017G>T p.L339F Substitution - Missense 3:69056678-69056678 - TCGA-A8-A09N-01 COSM446991 c.448G>C p.D150H Substitution - Missense 3:69064092-69064092 - TCGA-AP-A059-01 COSM1048272 c.611A>C p.E204A Substitution - Missense 3:69063064-69063064 - PT49 COSM1180962 c.797-7delT p.? Unknown 3:69061934-69061934 - 1N38-VS-1T38 COSM4975160 c.630C>T p.A210A Substitution - coding silent 3:69063045-69063045 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.154320 3p24.3-p13 603172 2402663|CGAP|BC022853|A/C|coding|Pro371Thr|1129|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AATATG - InFrameDeletion p.H160_I161delHI c.478_483delCATATT 3 69112644 CM A G IntronicSNV . c.62+328T>C 3 69128935 HC A G Synonymous p.F234F c.702T>C 3 69111322 CM C A Missense p.C70F c.209G>T 3 69124636 SCLC C A Missense p.D191Y c.571G>T 3 69112255 LUSC C A Missense p.K9N c.27G>T 3 69129298 NSCLC C A Missense p.W34L c.101G>T 3 69127031 STAD C G Missense p.D150H c.448G>C 3 69113243 BRCA C T Missense p.C249Y c.746G>A 3 69111278 OV C T Missense p.G79S c.235G>A 3 69124610 LUAD C T Synonymous p.L90L c.270G>A 3 69120763 GBM CTT - InFrameDeletion p.R13delR c.33_35delAAG 3 69129290 LUAD G A Missense p.P58L c.173C>T 3 69126959 CM G A Missense p.R37C c.109C>T 3 69127023 CM G A Missense p.S290L c.869C>T 3 69111006 CM G A Nonsense p.R424* c.1270C>T 3 69105035 STAD G A Synonymous p.F155F c.465C>T 3 69113226 BLCA G A Synonymous p.T238T c.714C>T 3 69111310 CM G C Missense p.L63V c.187C>G 3 69124658 BLCA G T Missense p.H144N c.430C>A 3 69113261 SCLC - TAAG Frameshift p.L80Ffs*5 c.239_240insCTTA 3 69124605 THCA T A Missense p.E251V c.752A>T 3 69111272 HNSC T A Missense p.K434N c.1302A>T 3 69105003 LUSC T A Missense p.R244W c.730A>T 3 69111294 LUSC T A Missense p.T432S c.1294A>T 3 69105011 HNSC T A Synonymous p.V41V c.123A>T 3 69127009 LUAD T G Synonymous p.R360R c.1078A>C 3 69105768 COREAD