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 48965041 48965041 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr3:48965041A>G c.50A>G c.(49-51)tAt>tGt p.Y17C BLCA 3 48965199 48965199 + Missense_Mutation SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr3:48965199G>C c.208G>C c.(208-210)Gag>Cag p.E70Q BLCA 3 49004677 49004677 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr3:49004677C>T c.507C>T c.(505-507)tgC>tgT p.C169C BLCA 3 49004694 49004694 + Missense_Mutation SNP A A C TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr3:49004694A>C c.524A>C c.(523-525)gAc>gCc p.D175A BLCA 3 49005998 49005998 + Frame_Shift_Del DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr3:49005998delC c.570delC c.(568-570)ctcfs p.L190fs BLCA 3 49006038 49006038 + Nonsense_Mutation SNP G G T TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr3:49006038G>T c.610G>T c.(610-612)Gaa>Taa p.E204* BLCA 3 49011238 49011238 + Frame_Shift_Del DEL C C - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr3:49011238delC c.877delC c.(877-879)cacfs p.H293fs BLCA 3 49011238 49011238 + Missense_Mutation SNP C C G TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr3:49011238C>G c.877C>G c.(877-879)Cac>Gac p.H293D BLCA 3 49012253 49012253 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr3:49012253C>T c.892C>T c.(892-894)Ccc>Tcc p.P298S BLCA 3 49012274 49012274 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr3:49012274G>A c.913G>A c.(913-915)Gag>Aag p.E305K BLCA 3 49012274 49012274 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:49012274G>C c.913G>C c.(913-915)Gag>Cag p.E305Q BLCA 3 49017852 49017852 + Nonsense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:49017852C>T c.1180C>T c.(1180-1182)Cag>Tag p.Q394* BLCA 3 49017876 49017876 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr3:49017876G>C c.1204G>C c.(1204-1206)Ggg>Cgg p.G402R BRCA 3 49011143 49011143 + Missense_Mutation SNP G G A TCGA-GM-A2DD-01A-11D-A17W-09 TCGA-GM-A2DD-10C-01D-A17W-09 g.chr3:49011143G>A c.782G>A c.(781-783)cGt>cAt p.R261H BRCA 3 49012302 49012302 + Splice_Site SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:49012302T>G c.e10+2 CESC 3 49002355 49002355 + Nonsense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 g.chr3:49002355C>G c.327C>G c.(325-327)taC>taG p.Y109* CESC 3 49006070 49006070 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr3:49006070C>T c.642C>T c.(640-642)ctC>ctT p.L214L CESC 3 49017054 49017054 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:49017054C>T c.1101C>T c.(1099-1101)ttC>ttT p.F367F COAD 3 48965066 48965066 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:48965066A>G c.75A>G c.(73-75)gaA>gaG p.E25E COAD 3 49011195 49011195 + Silent SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:49011195G>T c.834G>T c.(832-834)acG>acT p.T278T COAD 3 49012255 49012255 + Silent SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:49012255C>A c.894C>A c.(892-894)ccC>ccA p.P298P COAD 3 49012284 49012284 + Missense_Mutation SNP G G T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr3:49012284G>T c.923G>T c.(922-924)gGa>gTa p.G308V COAD 3 49016933 49016933 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49016933T>C c.980T>C c.(979-981)cTa>cCa p.L327P COAD 3 49017027 49017027 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:49017027G>A c.1074G>A c.(1072-1074)gcG>gcA p.A358A COADREAD 3 48965066 48965066 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:48965066A>G c.75A>G c.(73-75)gaA>gaG p.E25E COADREAD 3 49008127 49008127 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:49008127G>A c.760G>A c.(760-762)Gag>Aag p.E254K COADREAD 3 49011195 49011195 + Silent SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:49011195G>T c.834G>T c.(832-834)acG>acT p.T278T COADREAD 3 49012255 49012255 + Silent SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:49012255C>A c.894C>A c.(892-894)ccC>ccA p.P298P COADREAD 3 49012284 49012284 + Missense_Mutation SNP G G T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr3:49012284G>T c.923G>T c.(922-924)gGa>gTa p.G308V COADREAD 3 49016933 49016933 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49016933T>C c.980T>C c.(979-981)cTa>cCa p.L327P COADREAD 3 49017027 49017027 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:49017027G>A c.1074G>A c.(1072-1074)gcG>gcA p.A358A DLBC 3 49017001 49017001 + Missense_Mutation SNP G G A TCGA-FA-A6HO-01A-11D-A31X-10 TCGA-FA-A6HO-10A-01D-A31X-10 g.chr3:49017001G>A c.1048G>A c.(1048-1050)Gtg>Atg p.V350M ESCA 3 48965152 48965152 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr3:48965152T>A c.161T>A c.(160-162)tTt>tAt p.F54Y ESCA 3 49008111 49008111 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr3:49008111G>A c.744G>A c.(742-744)caG>caA p.Q248Q ESCA 3 49020390 49020390 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr3:49020390G>T c.1388G>T c.(1387-1389)cGt>cTt p.R463L GBM 3 48965232 48965232 + Missense_Mutation SNP G G T TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr3:48965232G>T c.241G>T c.(241-243)Gct>Tct p.A81S GBMLGG 3 48965232 48965232 + Missense_Mutation SNP G G T TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr3:48965232G>T c.241G>T c.(241-243)Gct>Tct p.A81S GBMLGG 3 49004629 49004629 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49004629T>C c.459T>C c.(457-459)tcT>tcC p.S153S GBMLGG 3 49004696 49004701 + In_Frame_Del DEL GGCGTG GGCGTG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 g.chr3:49004696_49004701delGGCGTG c.526_531delGGCGTG c.(526-531)ggcgtgdel p.GV180del HNSC 3 49008082 49008082 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr3:49008082G>A c.715G>A c.(715-717)Gta>Ata p.V239I HNSC 3 49011181 49011181 + Missense_Mutation SNP C C T TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr3:49011181C>T c.820C>T c.(820-822)Cgg>Tgg p.R274W HNSC 3 49020700 49020700 + Silent SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr3:49020700C>G c.1479C>G c.(1477-1479)acC>acG p.T493T KIPAN 3 49005966 49005966 + Splice_Site SNP G G T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr3:49005966G>T c.e7-1 KIRP 3 49005966 49005966 + Splice_Site SNP G G T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr3:49005966G>T c.e7-1 LGG 3 49004629 49004629 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49004629T>C c.459T>C c.(457-459)tcT>tcC p.S153S LGG 3 49004696 49004701 + In_Frame_Del DEL GGCGTG GGCGTG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 g.chr3:49004696_49004701delGGCGTG c.526_531delGGCGTG c.(526-531)ggcgtgdel p.GV180del LIHC 3 49006053 49006053 + Missense_Mutation SNP A A C TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr3:49006053A>C c.625A>C c.(625-627)Aaa>Caa p.K209Q LIHC 3 49006060 49006060 + Missense_Mutation SNP G G C TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr3:49006060G>C c.632G>C c.(631-633)aGg>aCg p.R211T LIHC 3 49006081 49006081 + Missense_Mutation SNP A A G TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr3:49006081A>G c.653A>G c.(652-654)tAt>tGt p.Y218C LUAD 3 48965034 48965034 + Nonsense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:48965034G>T c.43G>T c.(43-45)Gag>Tag p.E15* LUAD 3 49006061 49006062 + Frame_Shift_Del DEL GC GC - TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr3:49006061_49006062delGC c.633_634delGC c.(631-636)aggcgcfs p.RR211fs LUSC 3 49002404 49002404 + Missense_Mutation SNP C C G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr3:49002404C>G c.376C>G c.(376-378)Cca>Gca p.P126A LUSC 3 49006060 49006060 + Missense_Mutation SNP G G T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr3:49006060G>T c.632G>T c.(631-633)aGg>aTg p.R211M OV 3 49012255 49012255 + Silent SNP C C T TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr3:49012255C>T c.894C>T c.(892-894)ccC>ccT p.P298P PRAD 3 49004609 49004609 + Nonsense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 g.chr3:49004609C>T c.439C>T c.(439-441)Cga>Tga p.R147* PRAD 3 49012412 49012412 + Splice_Site SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 g.chr3:49012412G>A c.961G>A c.(961-963)Gac>Aac p.D321N READ 3 49008127 49008127 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:49008127G>A c.760G>A c.(760-762)Gag>Aag p.E254K SARC 3 49005982 49005982 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:49005982C>T c.554C>T c.(553-555)gCt>gTt p.A185V SKCM 3 48965197 48965197 + Missense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr3:48965197C>T c.206C>T c.(205-207)tCt>tTt p.S69F SKCM 3 49002366 49002366 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr3:49002366C>T c.338C>T c.(337-339)tCt>tTt p.S113F SKCM 3 49002404 49002404 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr3:49002404C>T c.376C>T c.(376-378)Cca>Tca p.P126S SKCM 3 49005998 49005998 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49005998C>T c.570C>T c.(568-570)ctC>ctT p.L190L SKCM 3 49005998 49005998 + Silent SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr3:49005998C>T c.570C>T c.(568-570)ctC>ctT p.L190L SKCM 3 49005999 49005999 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr3:49005999C>T c.571C>T c.(571-573)Cgt>Tgt p.R191C SKCM 3 49006032 49006032 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49006032C>T c.604C>T c.(604-606)Ccc>Tcc p.P202S SKCM 3 49008031 49008031 + Frame_Shift_Del DEL C C - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr3:49008031delC c.664delC c.(664-666)catfs p.H222fs SKCM 3 49011154 49011154 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:49011154C>T c.793C>T c.(793-795)Cac>Tac p.H265Y SKCM 3 49012254 49012254 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49012254C>T c.893C>T c.(892-894)cCc>cTc p.P298L SKCM 3 49017013 49017013 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr3:49017013C>T c.1060C>T c.(1060-1062)Caa>Taa p.Q354* SKCM 3 49020677 49020677 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr3:49020677C>T c.1456C>T c.(1456-1458)Ctg>Ttg p.L486L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 3 49020392 49020392 single base substitution G A 3_prime_UTR_variant ALL-US 3 49020392 49020392 single base substitution G A downstream_gene_variant ALL-US 3 49020392 49020392 single base substitution G A exon_variant ALL-US 3 49020392 49020392 single base substitution G A missense_variant A464T 1390G>A BLCA-CN 3 49004628 49004628 single base substitution C G 3_prime_UTR_variant BLCA-CN 3 49004628 49004628 single base substitution C G downstream_gene_variant BLCA-CN 3 49004628 49004628 single base substitution C G exon_variant BLCA-CN 3 49004628 49004628 single base substitution C G intron_variant BLCA-CN 3 49004628 49004628 single base substitution C G missense_variant S153C 458C>G BLCA-CN 3 49004628 49004628 single base substitution C G upstream_gene_variant BLCA-US 3 48956327 48956327 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 3 48956327 48956327 single base substitution C T exon_variant BLCA-US 3 48956327 48956327 single base substitution C T upstream_gene_variant BLCA-US 3 49005998 49005998 deletion of <=200bp C - 3_prime_UTR_variant BLCA-US 3 49005998 49005998 deletion of <=200bp C - downstream_gene_variant BLCA-US 3 49005998 49005998 deletion of <=200bp C - exon_variant BLCA-US 3 49005998 49005998 deletion of <=200bp C - frameshift_variant L190 BLCA-US 3 49005998 49005998 deletion of <=200bp C - intron_variant BLCA-US 3 49012253 49012253 single base substitution C T 3_prime_UTR_variant BLCA-US 3 49012253 49012253 single base substitution C T downstream_gene_variant BLCA-US 3 49012253 49012253 single base substitution C T exon_variant BLCA-US 3 49012253 49012253 single base substitution C T missense_variant P298S 892C>T BLCA-US 3 49027929 49027929 single base substitution C G downstream_gene_variant BRCA-EU 3 48951599 48951599 single base substitution C G upstream_gene_variant BRCA-EU 3 48953750 48953750 single base substitution G A upstream_gene_variant BRCA-EU 3 48955157 48955157 single base substitution C T upstream_gene_variant BRCA-EU 3 48956194 48956194 single base substitution T C upstream_gene_variant BRCA-EU 3 48956309 48956309 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 48956309 48956309 single base substitution C T exon_variant BRCA-EU 3 48956309 48956309 single base substitution C T upstream_gene_variant BRCA-EU 3 48961028 48961028 single base substitution C T intron_variant BRCA-EU 3 48961028 48961028 single base substitution C T upstream_gene_variant BRCA-EU 3 48961386 48961386 single base substitution G C intron_variant BRCA-EU 3 48961386 48961386 single base substitution G C upstream_gene_variant BRCA-EU 3 48962024 48962024 single base substitution T G intron_variant BRCA-EU 3 48962024 48962024 single base substitution T G upstream_gene_variant BRCA-EU 3 48963464 48963464 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 48963464 48963464 deletion of <=200bp A - intron_variant BRCA-EU 3 48963464 48963464 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 48964871 48964871 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 48964871 48964871 single base substitution C G downstream_gene_variant BRCA-EU 3 48964871 48964871 single base substitution C G intron_variant BRCA-EU 3 48964871 48964871 single base substitution C G upstream_gene_variant BRCA-EU 3 48965952 48965952 single base substitution A G downstream_gene_variant BRCA-EU 3 48965952 48965952 single base substitution A G intron_variant BRCA-EU 3 48966310 48966310 single base substitution G A downstream_gene_variant BRCA-EU 3 48966310 48966310 single base substitution G A intron_variant BRCA-EU 3 48967928 48967928 single base substitution A T downstream_gene_variant BRCA-EU 3 48967928 48967928 single base substitution A T intron_variant BRCA-EU 3 48968193 48968193 single base substitution A G downstream_gene_variant BRCA-EU 3 48968193 48968193 single base substitution A G intron_variant BRCA-EU 3 48968575 48968578 deletion of <=200bp AGTA - downstream_gene_variant BRCA-EU 3 48968575 48968578 deletion of <=200bp AGTA - intron_variant BRCA-EU 3 48968735 48968735 single base substitution A C downstream_gene_variant BRCA-EU 3 48968735 48968735 single base substitution A C intron_variant BRCA-EU 3 48969788 48969788 single base substitution G A downstream_gene_variant BRCA-EU 3 48969788 48969788 single base substitution G A intron_variant BRCA-EU 3 48970784 48970784 single base substitution C T intron_variant BRCA-EU 3 48972073 48972073 single base substitution C G intron_variant BRCA-EU 3 48975509 48975509 single base substitution G C intron_variant BRCA-EU 3 48976154 48976154 single base substitution G C intron_variant BRCA-EU 3 48976154 48976154 single base substitution G C upstream_gene_variant BRCA-EU 3 48977302 48977302 single base substitution A T intron_variant BRCA-EU 3 48977302 48977302 single base substitution A T upstream_gene_variant BRCA-EU 3 48981722 48981722 insertion of <=200bp - A intron_variant BRCA-EU 3 48982339 48982339 single base substitution T G intron_variant BRCA-EU 3 48982951 48982951 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 48982951 48982951 deletion of <=200bp T - intron_variant BRCA-EU 3 48983743 48983743 single base substitution G C downstream_gene_variant BRCA-EU 3 48983743 48983743 single base substitution G C intron_variant BRCA-EU 3 48985504 48985504 single base substitution C A downstream_gene_variant BRCA-EU 3 48985504 48985504 single base substitution C A intron_variant BRCA-EU 3 48985519 48985519 single base substitution G T downstream_gene_variant BRCA-EU 3 48985519 48985519 single base substitution G T intron_variant BRCA-EU 3 48987975 48987975 single base substitution A G downstream_gene_variant BRCA-EU 3 48987975 48987975 single base substitution A G intron_variant BRCA-EU 3 48988747 48988747 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 48988747 48988747 deletion of <=200bp T - intron_variant BRCA-EU 3 48989205 48989205 single base substitution A G downstream_gene_variant BRCA-EU 3 48989205 48989205 single base substitution A G intron_variant BRCA-EU 3 48989391 48989391 single base substitution C T downstream_gene_variant BRCA-EU 3 48989391 48989391 single base substitution C T intron_variant BRCA-EU 3 48989780 48989780 single base substitution C T downstream_gene_variant BRCA-EU 3 48989780 48989780 single base substitution C T intron_variant BRCA-EU 3 48990940 48990940 single base substitution C T downstream_gene_variant BRCA-EU 3 48990940 48990940 single base substitution C T intron_variant BRCA-EU 3 48993440 48993440 single base substitution G C intron_variant BRCA-EU 3 48993544 48993544 single base substitution T C intron_variant BRCA-EU 3 48995998 48995998 single base substitution C T intron_variant BRCA-EU 3 48996460 48996460 single base substitution A C intron_variant BRCA-EU 3 48997032 48997032 single base substitution C T intron_variant BRCA-EU 3 48998292 48998292 single base substitution C T intron_variant BRCA-EU 3 48998292 48998292 single base substitution C T upstream_gene_variant BRCA-EU 3 49003748 49003748 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 49003748 49003748 deletion of <=200bp T - intron_variant BRCA-EU 3 49003748 49003748 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 49003866 49003866 single base substitution A G downstream_gene_variant BRCA-EU 3 49003866 49003866 single base substitution A G intron_variant BRCA-EU 3 49003866 49003866 single base substitution A G upstream_gene_variant BRCA-EU 3 49005302 49005302 single base substitution C T downstream_gene_variant BRCA-EU 3 49005302 49005302 single base substitution C T intron_variant BRCA-EU 3 49005302 49005302 single base substitution C T upstream_gene_variant BRCA-EU 3 49005525 49005525 single base substitution T C downstream_gene_variant BRCA-EU 3 49005525 49005525 single base substitution T C exon_variant BRCA-EU 3 49005525 49005525 single base substitution T C intron_variant BRCA-EU 3 49005525 49005525 single base substitution T C upstream_gene_variant BRCA-EU 3 49007577 49007577 single base substitution G A downstream_gene_variant BRCA-EU 3 49007577 49007577 single base substitution G A intron_variant BRCA-EU 3 49007577 49007577 single base substitution G A upstream_gene_variant BRCA-EU 3 49010563 49010563 single base substitution G T downstream_gene_variant BRCA-EU 3 49010563 49010563 single base substitution G T intron_variant BRCA-EU 3 49010563 49010563 single base substitution G T upstream_gene_variant BRCA-EU 3 49013195 49013195 single base substitution G A downstream_gene_variant BRCA-EU 3 49013195 49013195 single base substitution G A intron_variant BRCA-EU 3 49013586 49013586 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 49013586 49013586 deletion of <=200bp C - intron_variant BRCA-EU 3 49013835 49013835 single base substitution G A downstream_gene_variant BRCA-EU 3 49013835 49013835 single base substitution G A intron_variant BRCA-EU 3 49015519 49015519 single base substitution T A downstream_gene_variant BRCA-EU 3 49015519 49015519 single base substitution T A intron_variant BRCA-EU 3 49015519 49015519 single base substitution T A upstream_gene_variant BRCA-EU 3 49016572 49016572 single base substitution C T downstream_gene_variant BRCA-EU 3 49016572 49016572 single base substitution C T intron_variant BRCA-EU 3 49016572 49016572 single base substitution C T upstream_gene_variant BRCA-EU 3 49017360 49017360 single base substitution T C downstream_gene_variant BRCA-EU 3 49017360 49017360 single base substitution T C intron_variant BRCA-EU 3 49017360 49017360 single base substitution T C upstream_gene_variant BRCA-EU 3 49018132 49018132 single base substitution G C downstream_gene_variant BRCA-EU 3 49018132 49018132 single base substitution G C intron_variant BRCA-EU 3 49018132 49018132 single base substitution G C upstream_gene_variant BRCA-EU 3 49022726 49022726 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 49022726 49022726 single base substitution C G downstream_gene_variant BRCA-EU 3 49022931 49022931 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 49022931 49022931 single base substitution G C downstream_gene_variant BRCA-EU 3 49023162 49023162 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 49023162 49023162 single base substitution G C downstream_gene_variant BRCA-EU 3 49023810 49023810 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 49023810 49023810 single base substitution G C downstream_gene_variant BRCA-EU 3 49024607 49024607 single base substitution C A downstream_gene_variant BRCA-EU 3 49024926 49024926 single base substitution A T downstream_gene_variant BRCA-EU 3 49025497 49025497 single base substitution C T downstream_gene_variant BRCA-EU 3 49025901 49025901 single base substitution G C downstream_gene_variant BRCA-EU 3 49026484 49026484 single base substitution G A downstream_gene_variant BRCA-EU 3 49026668 49026668 single base substitution C G downstream_gene_variant BRCA-EU 3 49026721 49026721 single base substitution C G downstream_gene_variant BRCA-EU 3 49027510 49027510 single base substitution C G downstream_gene_variant BRCA-EU 3 49028668 49028668 single base substitution G C downstream_gene_variant BRCA-FR 3 48951599 48951599 single base substitution C G upstream_gene_variant BRCA-FR 3 48951640 48951640 single base substitution T C upstream_gene_variant BRCA-FR 3 48951699 48951699 single base substitution C T upstream_gene_variant BRCA-FR 3 48966310 48966310 single base substitution G A downstream_gene_variant BRCA-FR 3 48966310 48966310 single base substitution G A intron_variant BRCA-FR 3 48985519 48985519 single base substitution G T downstream_gene_variant BRCA-FR 3 48985519 48985519 single base substitution G T intron_variant BRCA-FR 3 48993805 48993805 single base substitution C G intron_variant BRCA-FR 3 49003866 49003866 single base substitution A G downstream_gene_variant BRCA-FR 3 49003866 49003866 single base substitution A G intron_variant BRCA-FR 3 49003866 49003866 single base substitution A G upstream_gene_variant BRCA-FR 3 49005302 49005302 single base substitution C T downstream_gene_variant BRCA-FR 3 49005302 49005302 single base substitution C T intron_variant BRCA-FR 3 49005302 49005302 single base substitution C T upstream_gene_variant BRCA-FR 3 49018132 49018132 single base substitution G C downstream_gene_variant BRCA-FR 3 49018132 49018132 single base substitution G C intron_variant BRCA-FR 3 49018132 49018132 single base substitution G C upstream_gene_variant BRCA-FR 3 49025901 49025901 single base substitution G C downstream_gene_variant BRCA-FR 3 49026668 49026668 single base substitution C G downstream_gene_variant BRCA-FR 3 49026721 49026721 single base substitution C G downstream_gene_variant BRCA-FR 3 49027224 49027224 single base substitution C T downstream_gene_variant BRCA-FR 3 49027510 49027510 single base substitution C G downstream_gene_variant BRCA-FR 3 49027627 49027627 single base substitution G A downstream_gene_variant BRCA-UK 3 48953868 48953868 single base substitution C T upstream_gene_variant BRCA-UK 3 48955993 48955993 single base substitution G A upstream_gene_variant BRCA-UK 3 48965952 48965952 single base substitution A G downstream_gene_variant BRCA-UK 3 48965952 48965952 single base substitution A G intron_variant BRCA-UK 3 48970623 48970623 single base substitution C T intron_variant BRCA-UK 3 48978407 48978407 single base substitution C G intron_variant BRCA-UK 3 48978407 48978407 single base substitution C G upstream_gene_variant BRCA-UK 3 48983743 48983743 single base substitution G C downstream_gene_variant BRCA-UK 3 48983743 48983743 single base substitution G C intron_variant BRCA-UK 3 48993544 48993544 single base substitution T C intron_variant BRCA-UK 3 49021929 49021929 single base substitution A T 3_prime_UTR_variant BRCA-UK 3 49021929 49021929 single base substitution A T downstream_gene_variant BRCA-UK 3 49025207 49025207 single base substitution G A downstream_gene_variant BRCA-UK 3 49025497 49025497 single base substitution C T downstream_gene_variant BRCA-US 3 48956003 48956003 single base substitution C T upstream_gene_variant BRCA-US 3 48956169 48956169 single base substitution C G upstream_gene_variant BRCA-US 3 49011143 49011143 single base substitution G A 3_prime_UTR_variant BRCA-US 3 49011143 49011143 single base substitution G A downstream_gene_variant BRCA-US 3 49011143 49011143 single base substitution G A exon_variant BRCA-US 3 49011143 49011143 single base substitution G A missense_variant R261H 782G>A BRCA-US 3 49012302 49012302 single base substitution T G downstream_gene_variant BRCA-US 3 49012302 49012302 single base substitution T G splice_donor_variant BRCA-US 3 49028331 49028331 single base substitution C G downstream_gene_variant CESC-US 3 48955903 48955903 single base substitution G C upstream_gene_variant CESC-US 3 48956234 48956234 single base substitution G C upstream_gene_variant CESC-US 3 49002355 49002355 single base substitution C G 3_prime_UTR_variant CESC-US 3 49002355 49002355 single base substitution C G downstream_gene_variant CESC-US 3 49002355 49002355 single base substitution C G exon_variant CESC-US 3 49002355 49002355 single base substitution C G stop_gained Y109* 327C>G CESC-US 3 49002355 49002355 single base substitution C G upstream_gene_variant CESC-US 3 49006070 49006070 single base substitution C T 3_prime_UTR_variant CESC-US 3 49006070 49006070 single base substitution C T downstream_gene_variant CESC-US 3 49006070 49006070 single base substitution C T exon_variant CESC-US 3 49006070 49006070 single base substitution C T intron_variant CESC-US 3 49006070 49006070 single base substitution C T synonymous_variant L214L 642C>T CESC-US 3 49006070 49006070 single base substitution C T upstream_gene_variant CESC-US 3 49017054 49017054 single base substitution C T 3_prime_UTR_variant CESC-US 3 49017054 49017054 single base substitution C T downstream_gene_variant CESC-US 3 49017054 49017054 single base substitution C T synonymous_variant F367F 1101C>T CESC-US 3 49017054 49017054 single base substitution C T upstream_gene_variant CLLE-ES 3 48951642 48951642 single base substitution T C upstream_gene_variant CLLE-ES 3 48951672 48951672 single base substitution C T upstream_gene_variant CLLE-ES 3 48957425 48957425 single base substitution T G intron_variant CLLE-ES 3 48957425 48957425 single base substitution T G upstream_gene_variant CLLE-ES 3 48977239 48977242 deletion of <=200bp AAGT - intron_variant CLLE-ES 3 48977239 48977242 deletion of <=200bp AAGT - upstream_gene_variant CLLE-ES 3 48994599 48994599 single base substitution C T intron_variant CLLE-ES 3 49007844 49007844 single base substitution A G downstream_gene_variant CLLE-ES 3 49007844 49007844 single base substitution A G intron_variant CLLE-ES 3 49007844 49007844 single base substitution A G upstream_gene_variant CLLE-ES 3 49009949 49009949 single base substitution A G downstream_gene_variant CLLE-ES 3 49009949 49009949 single base substitution A G intron_variant CLLE-ES 3 49009949 49009949 single base substitution A G upstream_gene_variant COAD-US 3 48955911 48955911 single base substitution C T upstream_gene_variant COAD-US 3 48956257 48956257 single base substitution A G 5_prime_UTR_variant COAD-US 3 48956257 48956257 single base substitution A G exon_variant COAD-US 3 48956257 48956257 single base substitution A G upstream_gene_variant COAD-US 3 49012284 49012284 single base substitution G T 3_prime_UTR_variant COAD-US 3 49012284 49012284 single base substitution G T downstream_gene_variant COAD-US 3 49012284 49012284 single base substitution G T exon_variant COAD-US 3 49012284 49012284 single base substitution G T missense_variant G308V 923G>T COAD-US 3 49016933 49016933 single base substitution T C 3_prime_UTR_variant COAD-US 3 49016933 49016933 single base substitution T C downstream_gene_variant COAD-US 3 49016933 49016933 single base substitution T C exon_variant COAD-US 3 49016933 49016933 single base substitution T C missense_variant L327P 980T>C COAD-US 3 49016933 49016933 single base substitution T C upstream_gene_variant COAD-US 3 49017930 49017930 single base substitution G A downstream_gene_variant COAD-US 3 49017930 49017930 single base substitution G A splice_donor_variant COAD-US 3 49017930 49017930 single base substitution G A upstream_gene_variant COAD-US 3 49027884 49027884 single base substitution G T downstream_gene_variant COCA-CN 3 48955661 48955661 single base substitution T C upstream_gene_variant COCA-CN 3 48956039 48956039 single base substitution A C upstream_gene_variant COCA-CN 3 48986234 48986234 single base substitution T C downstream_gene_variant COCA-CN 3 48986234 48986234 single base substitution T C intron_variant COCA-CN 3 48986559 48986559 single base substitution A T downstream_gene_variant COCA-CN 3 48986559 48986559 single base substitution A T intron_variant COCA-CN 3 49002275 49002276 deletion of <=200bp TC - downstream_gene_variant COCA-CN 3 49002275 49002276 deletion of <=200bp TC - intron_variant COCA-CN 3 49002275 49002276 deletion of <=200bp TC - upstream_gene_variant COCA-CN 3 49002390 49002390 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49002390 49002390 single base substitution G A downstream_gene_variant COCA-CN 3 49002390 49002390 single base substitution G A exon_variant COCA-CN 3 49002390 49002390 single base substitution G A missense_variant R121Q 362G>A COCA-CN 3 49002390 49002390 single base substitution G A upstream_gene_variant COCA-CN 3 49004655 49004655 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49004655 49004655 single base substitution G A downstream_gene_variant COCA-CN 3 49004655 49004655 single base substitution G A exon_variant COCA-CN 3 49004655 49004655 single base substitution G A intron_variant COCA-CN 3 49004655 49004655 single base substitution G A missense_variant R162H 485G>A COCA-CN 3 49004655 49004655 single base substitution G A upstream_gene_variant COCA-CN 3 49011050 49011050 single base substitution G T downstream_gene_variant COCA-CN 3 49011050 49011050 single base substitution G T exon_variant COCA-CN 3 49011050 49011050 single base substitution G T intron_variant COCA-CN 3 49017825 49017825 single base substitution A T 3_prime_UTR_variant COCA-CN 3 49017825 49017825 single base substitution A T downstream_gene_variant COCA-CN 3 49017825 49017825 single base substitution A T missense_variant T385S 1153A>T COCA-CN 3 49017825 49017825 single base substitution A T upstream_gene_variant EOPC-DE 3 48967089 48967089 single base substitution A G downstream_gene_variant EOPC-DE 3 48967089 48967089 single base substitution A G intron_variant ESAD-UK 3 48952607 48952607 single base substitution C A upstream_gene_variant ESAD-UK 3 48953494 48953494 single base substitution C A upstream_gene_variant ESAD-UK 3 48956480 48956480 deletion of <=200bp G - intron_variant ESAD-UK 3 48956480 48956480 deletion of <=200bp G - upstream_gene_variant ESAD-UK 3 48956550 48956550 single base substitution G C intron_variant ESAD-UK 3 48956550 48956550 single base substitution G C upstream_gene_variant ESAD-UK 3 48961966 48961966 single base substitution G T intron_variant ESAD-UK 3 48961966 48961966 single base substitution G T upstream_gene_variant ESAD-UK 3 48964106 48964106 single base substitution C T downstream_gene_variant ESAD-UK 3 48964106 48964106 single base substitution C T intron_variant ESAD-UK 3 48964106 48964106 single base substitution C T upstream_gene_variant ESAD-UK 3 48964855 48964855 single base substitution T C 5_prime_UTR_variant ESAD-UK 3 48964855 48964855 single base substitution T C downstream_gene_variant ESAD-UK 3 48964855 48964855 single base substitution T C intron_variant ESAD-UK 3 48964855 48964855 single base substitution T C upstream_gene_variant ESAD-UK 3 48966272 48966272 single base substitution T G downstream_gene_variant ESAD-UK 3 48966272 48966272 single base substitution T G intron_variant ESAD-UK 3 48967546 48967546 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 48967546 48967546 deletion of <=200bp A - intron_variant ESAD-UK 3 48969023 48969023 single base substitution G A downstream_gene_variant ESAD-UK 3 48969023 48969023 single base substitution G A intron_variant ESAD-UK 3 48974184 48974184 single base substitution C T intron_variant ESAD-UK 3 48977633 48977633 single base substitution C T intron_variant ESAD-UK 3 48977633 48977633 single base substitution C T upstream_gene_variant ESAD-UK 3 48979399 48979399 single base substitution C G intron_variant ESAD-UK 3 48979399 48979399 single base substitution C G upstream_gene_variant ESAD-UK 3 48979643 48979643 single base substitution C G intron_variant ESAD-UK 3 48979643 48979643 single base substitution C G upstream_gene_variant ESAD-UK 3 48979963 48979963 single base substitution G A intron_variant ESAD-UK 3 48979963 48979963 single base substitution G A upstream_gene_variant ESAD-UK 3 48982287 48982287 single base substitution G A intron_variant ESAD-UK 3 48982564 48982564 single base substitution T G exon_variant ESAD-UK 3 48982564 48982564 single base substitution T G intron_variant ESAD-UK 3 48982564 48982564 single base substitution T G splice_region_variant ESAD-UK 3 48988556 48988556 single base substitution C T downstream_gene_variant ESAD-UK 3 48988556 48988556 single base substitution C T intron_variant ESAD-UK 3 48988847 48988847 single base substitution G T downstream_gene_variant ESAD-UK 3 48988847 48988847 single base substitution G T intron_variant ESAD-UK 3 48990796 48990796 single base substitution T C downstream_gene_variant ESAD-UK 3 48990796 48990796 single base substitution T C intron_variant ESAD-UK 3 48993459 48993459 single base substitution A G intron_variant ESAD-UK 3 48995983 48995983 single base substitution A C intron_variant ESAD-UK 3 49000521 49000521 single base substitution C T downstream_gene_variant ESAD-UK 3 49000521 49000521 single base substitution C T intron_variant ESAD-UK 3 49000521 49000521 single base substitution C T upstream_gene_variant ESAD-UK 3 49001842 49001842 single base substitution G A downstream_gene_variant ESAD-UK 3 49001842 49001842 single base substitution G A intron_variant ESAD-UK 3 49001842 49001842 single base substitution G A upstream_gene_variant ESAD-UK 3 49002112 49002112 single base substitution A G downstream_gene_variant ESAD-UK 3 49002112 49002112 single base substitution A G intron_variant ESAD-UK 3 49002112 49002112 single base substitution A G upstream_gene_variant ESAD-UK 3 49002852 49002852 single base substitution C G downstream_gene_variant ESAD-UK 3 49002852 49002852 single base substitution C G intron_variant ESAD-UK 3 49002852 49002852 single base substitution C G upstream_gene_variant ESAD-UK 3 49006480 49006480 single base substitution C A downstream_gene_variant ESAD-UK 3 49006480 49006480 single base substitution C A intron_variant ESAD-UK 3 49006480 49006480 single base substitution C A upstream_gene_variant ESAD-UK 3 49010162 49010162 single base substitution T A downstream_gene_variant ESAD-UK 3 49010162 49010162 single base substitution T A intron_variant ESAD-UK 3 49010162 49010162 single base substitution T A upstream_gene_variant ESAD-UK 3 49018604 49018604 single base substitution A G downstream_gene_variant ESAD-UK 3 49018604 49018604 single base substitution A G intron_variant ESAD-UK 3 49018604 49018604 single base substitution A G upstream_gene_variant ESAD-UK 3 49019061 49019061 single base substitution A G downstream_gene_variant ESAD-UK 3 49019061 49019061 single base substitution A G intron_variant ESAD-UK 3 49019061 49019061 single base substitution A G upstream_gene_variant ESAD-UK 3 49021487 49021487 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 49021487 49021487 single base substitution C A downstream_gene_variant ESAD-UK 3 49026595 49026595 single base substitution A C downstream_gene_variant ESAD-UK 3 49028776 49028776 insertion of <=200bp - C downstream_gene_variant ESCA-CN 3 48955819 48955819 deletion of <=200bp G - upstream_gene_variant ESCA-CN 3 48956158 48956158 single base substitution G A upstream_gene_variant GBM-US 3 48965232 48965232 single base substitution G T downstream_gene_variant GBM-US 3 48965232 48965232 single base substitution G T exon_variant GBM-US 3 48965232 48965232 single base substitution G T intron_variant GBM-US 3 48965232 48965232 single base substitution G T missense_variant A81S 241G>T KIRP-US 3 48956091 48956091 single base substitution T A upstream_gene_variant LAML-KR 3 48954515 48954515 single base substitution C A upstream_gene_variant LAML-KR 3 48979043 48979043 single base substitution G T intron_variant LAML-KR 3 48979043 48979043 single base substitution G T upstream_gene_variant LAML-KR 3 48988409 48988409 single base substitution A T downstream_gene_variant LAML-KR 3 48988409 48988409 single base substitution A T intron_variant LAML-KR 3 48996764 48996764 single base substitution T A intron_variant LAML-KR 3 49005439 49005439 single base substitution A T downstream_gene_variant LAML-KR 3 49005439 49005439 single base substitution A T intron_variant LAML-KR 3 49005439 49005439 single base substitution A T upstream_gene_variant LICA-CN 3 48955899 48955899 single base substitution C A upstream_gene_variant LICA-CN 3 48965204 48965204 single base substitution T C downstream_gene_variant LICA-CN 3 48965204 48965204 single base substitution T C exon_variant LICA-CN 3 48965204 48965204 single base substitution T C intron_variant LICA-CN 3 48965204 48965204 single base substitution T C synonymous_variant G71G 213T>C LICA-CN 3 48965204 48965204 single base substitution T C upstream_gene_variant LICA-CN 3 49020387 49020387 single base substitution A T 3_prime_UTR_variant LICA-CN 3 49020387 49020387 single base substitution A T downstream_gene_variant LICA-CN 3 49020387 49020387 single base substitution A T exon_variant LICA-CN 3 49020387 49020387 single base substitution A T missense_variant E462V 1385A>T LICA-FR 3 48956335 48956335 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 3 48956335 48956335 single base substitution C T exon_variant LICA-FR 3 48956335 48956335 single base substitution C T upstream_gene_variant LICA-FR 3 48957907 48957907 single base substitution G A intron_variant LICA-FR 3 48957907 48957907 single base substitution G A upstream_gene_variant LICA-FR 3 48965057 48965057 single base substitution G A downstream_gene_variant LICA-FR 3 48965057 48965057 single base substitution G A exon_variant LICA-FR 3 48965057 48965057 single base substitution G A intron_variant LICA-FR 3 48965057 48965057 single base substitution G A synonymous_variant E22E 66G>A LICA-FR 3 48965057 48965057 single base substitution G A upstream_gene_variant LICA-FR 3 48981817 48981817 single base substitution G T intron_variant LICA-FR 3 49004597 49004597 single base substitution A G 3_prime_UTR_variant LICA-FR 3 49004597 49004597 single base substitution A G downstream_gene_variant LICA-FR 3 49004597 49004597 single base substitution A G exon_variant LICA-FR 3 49004597 49004597 single base substitution A G intron_variant LICA-FR 3 49004597 49004597 single base substitution A G missense_variant M143V 427A>G LICA-FR 3 49004597 49004597 single base substitution A G upstream_gene_variant LICA-FR 3 49020411 49020411 single base substitution G A downstream_gene_variant LICA-FR 3 49020411 49020411 single base substitution G A missense_variant G470E 1409G>A LICA-FR 3 49020411 49020411 single base substitution G A splice_region_variant LIHC-US 3 49006060 49006060 single base substitution G C 3_prime_UTR_variant LIHC-US 3 49006060 49006060 single base substitution G C downstream_gene_variant LIHC-US 3 49006060 49006060 single base substitution G C exon_variant LIHC-US 3 49006060 49006060 single base substitution G C intron_variant LIHC-US 3 49006060 49006060 single base substitution G C missense_variant R211T 632G>C LIHC-US 3 49006060 49006060 single base substitution G C upstream_gene_variant LINC-JP 3 48965360 48965360 single base substitution A G downstream_gene_variant LINC-JP 3 48965360 48965360 single base substitution A G exon_variant LINC-JP 3 48965360 48965360 single base substitution A G intron_variant LINC-JP 3 48977367 48977367 single base substitution A G intron_variant LINC-JP 3 48977367 48977367 single base substitution A G upstream_gene_variant LINC-JP 3 48988409 48988409 single base substitution A T downstream_gene_variant LINC-JP 3 48988409 48988409 single base substitution A T intron_variant LINC-JP 3 49000095 49000095 single base substitution G A downstream_gene_variant LINC-JP 3 49000095 49000095 single base substitution G A intron_variant LINC-JP 3 49000095 49000095 single base substitution G A upstream_gene_variant LINC-JP 3 49006612 49006612 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 49006612 49006612 deletion of <=200bp T - intron_variant LINC-JP 3 49006612 49006612 deletion of <=200bp T - upstream_gene_variant LINC-JP 3 49009974 49009974 single base substitution G A downstream_gene_variant LINC-JP 3 49009974 49009974 single base substitution G A intron_variant LINC-JP 3 49009974 49009974 single base substitution G A upstream_gene_variant LINC-JP 3 49024751 49024751 single base substitution C A downstream_gene_variant LINC-JP 3 49028244 49028244 single base substitution C G downstream_gene_variant LIRI-JP 3 48952200 48952200 single base substitution C A upstream_gene_variant LIRI-JP 3 48957185 48957185 single base substitution A G intron_variant LIRI-JP 3 48957185 48957185 single base substitution A G upstream_gene_variant LIRI-JP 3 48961654 48961654 single base substitution C T intron_variant LIRI-JP 3 48961654 48961654 single base substitution C T upstream_gene_variant LIRI-JP 3 48963521 48963521 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 48963521 48963521 deletion of <=200bp A - intron_variant LIRI-JP 3 48963521 48963521 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 48964248 48964248 single base substitution G T 5_prime_UTR_variant LIRI-JP 3 48964248 48964248 single base substitution G T downstream_gene_variant LIRI-JP 3 48964248 48964248 single base substitution G T intron_variant LIRI-JP 3 48964248 48964248 single base substitution G T upstream_gene_variant LIRI-JP 3 48966590 48966590 single base substitution A G downstream_gene_variant LIRI-JP 3 48966590 48966590 single base substitution A G intron_variant LIRI-JP 3 48968290 48968290 single base substitution G T downstream_gene_variant LIRI-JP 3 48968290 48968290 single base substitution G T intron_variant LIRI-JP 3 48971274 48971274 single base substitution G A intron_variant LIRI-JP 3 48972086 48972086 single base substitution T A intron_variant LIRI-JP 3 48984124 48984125 deletion of <=200bp GA - downstream_gene_variant LIRI-JP 3 48984124 48984125 deletion of <=200bp GA - intron_variant LIRI-JP 3 48984751 48984751 single base substitution A G downstream_gene_variant LIRI-JP 3 48984751 48984751 single base substitution A G intron_variant LIRI-JP 3 48987589 48987589 single base substitution A G downstream_gene_variant LIRI-JP 3 48987589 48987589 single base substitution A G intron_variant LIRI-JP 3 48988189 48988189 single base substitution A T downstream_gene_variant LIRI-JP 3 48988189 48988189 single base substitution A T intron_variant LIRI-JP 3 48991949 48991949 single base substitution A G intron_variant LIRI-JP 3 48992184 48992184 single base substitution G A intron_variant LIRI-JP 3 48997348 48997348 single base substitution G T intron_variant LIRI-JP 3 49000084 49000084 single base substitution C T downstream_gene_variant LIRI-JP 3 49000084 49000084 single base substitution C T intron_variant LIRI-JP 3 49000084 49000084 single base substitution C T upstream_gene_variant LIRI-JP 3 49004150 49004150 single base substitution T C downstream_gene_variant LIRI-JP 3 49004150 49004150 single base substitution T C intron_variant LIRI-JP 3 49004150 49004150 single base substitution T C upstream_gene_variant LIRI-JP 3 49006122 49006122 single base substitution C G downstream_gene_variant LIRI-JP 3 49006122 49006122 single base substitution C G intron_variant LIRI-JP 3 49006122 49006122 single base substitution C G upstream_gene_variant LIRI-JP 3 49009171 49009171 single base substitution A G downstream_gene_variant LIRI-JP 3 49009171 49009171 single base substitution A G intron_variant LIRI-JP 3 49009171 49009171 single base substitution A G upstream_gene_variant LIRI-JP 3 49014554 49014554 single base substitution G C downstream_gene_variant LIRI-JP 3 49014554 49014554 single base substitution G C intron_variant LIRI-JP 3 49015106 49015106 single base substitution G T downstream_gene_variant LIRI-JP 3 49015106 49015106 single base substitution G T intron_variant LIRI-JP 3 49015810 49015810 single base substitution C T downstream_gene_variant LIRI-JP 3 49015810 49015810 single base substitution C T intron_variant LIRI-JP 3 49015810 49015810 single base substitution C T upstream_gene_variant LIRI-JP 3 49018864 49018864 single base substitution A T downstream_gene_variant LIRI-JP 3 49018864 49018864 single base substitution A T intron_variant LIRI-JP 3 49018864 49018864 single base substitution A T upstream_gene_variant LIRI-JP 3 49022028 49022028 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 49022028 49022028 single base substitution G T downstream_gene_variant LIRI-JP 3 49022851 49022851 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 49022851 49022851 single base substitution G A downstream_gene_variant LIRI-JP 3 49025682 49025682 single base substitution C T downstream_gene_variant LUSC-KR 3 48954506 48954506 single base substitution A C upstream_gene_variant LUSC-KR 3 48958886 48958886 single base substitution G T intron_variant LUSC-KR 3 48958886 48958886 single base substitution G T upstream_gene_variant LUSC-KR 3 48964180 48964180 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 48964180 48964180 single base substitution G A downstream_gene_variant LUSC-KR 3 48964180 48964180 single base substitution G A intron_variant LUSC-KR 3 48964180 48964180 single base substitution G A upstream_gene_variant LUSC-KR 3 48964884 48964884 single base substitution T C 5_prime_UTR_variant LUSC-KR 3 48964884 48964884 single base substitution T C downstream_gene_variant LUSC-KR 3 48964884 48964884 single base substitution T C intron_variant LUSC-KR 3 48964884 48964884 single base substitution T C upstream_gene_variant LUSC-KR 3 48979502 48979502 single base substitution G T intron_variant LUSC-KR 3 48979502 48979502 single base substitution G T upstream_gene_variant LUSC-KR 3 48981041 48981041 single base substitution C T intron_variant LUSC-KR 3 48981641 48981641 single base substitution C T intron_variant LUSC-KR 3 49004327 49004327 single base substitution G C downstream_gene_variant LUSC-KR 3 49004327 49004327 single base substitution G C intron_variant LUSC-KR 3 49004327 49004327 single base substitution G C upstream_gene_variant LUSC-KR 3 49005439 49005439 single base substitution A T downstream_gene_variant LUSC-KR 3 49005439 49005439 single base substitution A T intron_variant LUSC-KR 3 49005439 49005439 single base substitution A T upstream_gene_variant LUSC-KR 3 49011026 49011026 single base substitution G A downstream_gene_variant LUSC-KR 3 49011026 49011026 single base substitution G A intron_variant LUSC-KR 3 49011026 49011026 single base substitution G A upstream_gene_variant LUSC-KR 3 49015707 49015707 single base substitution G T downstream_gene_variant LUSC-KR 3 49015707 49015707 single base substitution G T intron_variant LUSC-KR 3 49015707 49015707 single base substitution G T upstream_gene_variant LUSC-KR 3 49021054 49021054 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 49021054 49021054 single base substitution G A downstream_gene_variant LUSC-KR 3 49024958 49024958 single base substitution G T downstream_gene_variant LUSC-US 3 48955980 48955980 single base substitution C G upstream_gene_variant LUSC-US 3 49002404 49002404 single base substitution C G 3_prime_UTR_variant LUSC-US 3 49002404 49002404 single base substitution C G downstream_gene_variant LUSC-US 3 49002404 49002404 single base substitution C G exon_variant LUSC-US 3 49002404 49002404 single base substitution C G missense_variant P126A 376C>G LUSC-US 3 49002404 49002404 single base substitution C G upstream_gene_variant LUSC-US 3 49006060 49006060 single base substitution G T 3_prime_UTR_variant LUSC-US 3 49006060 49006060 single base substitution G T downstream_gene_variant LUSC-US 3 49006060 49006060 single base substitution G T exon_variant LUSC-US 3 49006060 49006060 single base substitution G T intron_variant LUSC-US 3 49006060 49006060 single base substitution G T missense_variant R211M 632G>T LUSC-US 3 49006060 49006060 single base substitution G T upstream_gene_variant MALY-DE 3 48955736 48955736 single base substitution A C upstream_gene_variant MALY-DE 3 48958052 48958063 deletion of <=200bp AGCTGGGATTAC - intron_variant MALY-DE 3 48958052 48958063 deletion of <=200bp AGCTGGGATTAC - upstream_gene_variant MALY-DE 3 48960075 48960075 single base substitution T A intron_variant MALY-DE 3 48960075 48960075 single base substitution T A upstream_gene_variant MALY-DE 3 48963093 48963093 single base substitution A C downstream_gene_variant MALY-DE 3 48963093 48963093 single base substitution A C intron_variant MALY-DE 3 48963093 48963093 single base substitution A C upstream_gene_variant MALY-DE 3 48972477 48972477 single base substitution A G intron_variant MALY-DE 3 48972551 48972551 single base substitution T A intron_variant MALY-DE 3 48972641 48972641 single base substitution G C intron_variant MALY-DE 3 48973774 48973774 single base substitution C T intron_variant MALY-DE 3 48978782 48978782 single base substitution A T intron_variant MALY-DE 3 48978782 48978782 single base substitution A T upstream_gene_variant MALY-DE 3 48984415 48984415 single base substitution C T downstream_gene_variant MALY-DE 3 48984415 48984415 single base substitution C T intron_variant MALY-DE 3 48987118 48987118 single base substitution C G downstream_gene_variant MALY-DE 3 48987118 48987118 single base substitution C G intron_variant MALY-DE 3 49004592 49004592 single base substitution T A 3_prime_UTR_variant MALY-DE 3 49004592 49004592 single base substitution T A downstream_gene_variant MALY-DE 3 49004592 49004592 single base substitution T A exon_variant MALY-DE 3 49004592 49004592 single base substitution T A intron_variant MALY-DE 3 49004592 49004592 single base substitution T A missense_variant V141E 422T>A MALY-DE 3 49004592 49004592 single base substitution T A upstream_gene_variant MALY-DE 3 49004649 49004649 single base substitution T G 3_prime_UTR_variant MALY-DE 3 49004649 49004649 single base substitution T G downstream_gene_variant MALY-DE 3 49004649 49004649 single base substitution T G exon_variant MALY-DE 3 49004649 49004649 single base substitution T G intron_variant MALY-DE 3 49004649 49004649 single base substitution T G missense_variant F160C 479T>G MALY-DE 3 49004649 49004649 single base substitution T G upstream_gene_variant MALY-DE 3 49004651 49004651 single base substitution T A 3_prime_UTR_variant MALY-DE 3 49004651 49004651 single base substitution T A downstream_gene_variant MALY-DE 3 49004651 49004651 single base substitution T A exon_variant MALY-DE 3 49004651 49004651 single base substitution T A intron_variant MALY-DE 3 49004651 49004651 single base substitution T A missense_variant C161S 481T>A MALY-DE 3 49004651 49004651 single base substitution T A upstream_gene_variant MALY-DE 3 49005241 49005241 single base substitution T A downstream_gene_variant MALY-DE 3 49005241 49005241 single base substitution T A intron_variant MALY-DE 3 49005241 49005241 single base substitution T A upstream_gene_variant MALY-DE 3 49020822 49020822 single base substitution T G 3_prime_UTR_variant MALY-DE 3 49020822 49020822 single base substitution T G downstream_gene_variant MALY-DE 3 49020822 49020822 single base substitution T G exon_variant MALY-DE 3 49026078 49026078 single base substitution A G downstream_gene_variant MALY-DE 3 49027444 49027444 single base substitution A C downstream_gene_variant MALY-DE 3 49027730 49027730 single base substitution C T downstream_gene_variant MELA-AU 3 48951428 48951428 single base substitution G A upstream_gene_variant MELA-AU 3 48951522 48951522 single base substitution C T upstream_gene_variant MELA-AU 3 48952378 48952378 single base substitution G A upstream_gene_variant MELA-AU 3 48952411 48952411 single base substitution C T upstream_gene_variant MELA-AU 3 48952669 48952669 single base substitution G A upstream_gene_variant MELA-AU 3 48953182 48953182 single base substitution G A upstream_gene_variant MELA-AU 3 48953218 48953218 single base substitution C T upstream_gene_variant MELA-AU 3 48953377 48953378 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 48953460 48953460 single base substitution T A upstream_gene_variant MELA-AU 3 48953555 48953555 single base substitution G A upstream_gene_variant MELA-AU 3 48954006 48954006 single base substitution G A upstream_gene_variant MELA-AU 3 48954014 48954014 single base substitution G A upstream_gene_variant MELA-AU 3 48954256 48954256 single base substitution G A upstream_gene_variant MELA-AU 3 48954626 48954626 single base substitution G A upstream_gene_variant MELA-AU 3 48954712 48954712 single base substitution G A upstream_gene_variant MELA-AU 3 48955144 48955144 single base substitution G A upstream_gene_variant MELA-AU 3 48956246 48956246 single base substitution G A upstream_gene_variant MELA-AU 3 48956790 48956790 single base substitution C T intron_variant MELA-AU 3 48956790 48956790 single base substitution C T upstream_gene_variant MELA-AU 3 48958686 48958686 single base substitution C T intron_variant MELA-AU 3 48958686 48958686 single base substitution C T upstream_gene_variant MELA-AU 3 48959937 48959937 single base substitution A T intron_variant MELA-AU 3 48959937 48959937 single base substitution A T upstream_gene_variant MELA-AU 3 48960420 48960420 single base substitution C T intron_variant MELA-AU 3 48960420 48960420 single base substitution C T upstream_gene_variant MELA-AU 3 48960466 48960467 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 48960466 48960467 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 48960984 48960985 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 48960984 48960985 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 48961394 48961394 single base substitution C T intron_variant MELA-AU 3 48961394 48961394 single base substitution C T upstream_gene_variant MELA-AU 3 48961396 48961396 single base substitution G C intron_variant MELA-AU 3 48961396 48961396 single base substitution G C upstream_gene_variant MELA-AU 3 48963791 48963791 single base substitution C T downstream_gene_variant MELA-AU 3 48963791 48963791 single base substitution C T intron_variant MELA-AU 3 48963791 48963791 single base substitution C T upstream_gene_variant MELA-AU 3 48964063 48964063 single base substitution A C downstream_gene_variant MELA-AU 3 48964063 48964063 single base substitution A C intron_variant MELA-AU 3 48964063 48964063 single base substitution A C upstream_gene_variant MELA-AU 3 48964348 48964348 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 48964348 48964348 single base substitution A G downstream_gene_variant MELA-AU 3 48964348 48964348 single base substitution A G intron_variant MELA-AU 3 48964348 48964348 single base substitution A G upstream_gene_variant MELA-AU 3 48964721 48964721 single base substitution C T 5_prime_UTR_variant MELA-AU 3 48964721 48964721 single base substitution C T downstream_gene_variant MELA-AU 3 48964721 48964721 single base substitution C T intron_variant MELA-AU 3 48964721 48964721 single base substitution C T upstream_gene_variant MELA-AU 3 48965135 48965135 single base substitution G A downstream_gene_variant MELA-AU 3 48965135 48965135 single base substitution G A exon_variant MELA-AU 3 48965135 48965135 single base substitution G A intron_variant MELA-AU 3 48965135 48965135 single base substitution G A synonymous_variant Q48Q 144G>A MELA-AU 3 48965135 48965135 single base substitution G A upstream_gene_variant MELA-AU 3 48965277 48965277 single base substitution C T downstream_gene_variant MELA-AU 3 48965277 48965277 single base substitution C T exon_variant MELA-AU 3 48965277 48965277 single base substitution C T intron_variant MELA-AU 3 48965313 48965313 single base substitution T C downstream_gene_variant MELA-AU 3 48965313 48965313 single base substitution T C exon_variant MELA-AU 3 48965313 48965313 single base substitution T C intron_variant MELA-AU 3 48966347 48966347 single base substitution C T downstream_gene_variant MELA-AU 3 48966347 48966347 single base substitution C T intron_variant MELA-AU 3 48967056 48967056 single base substitution T C downstream_gene_variant MELA-AU 3 48967056 48967056 single base substitution T C intron_variant MELA-AU 3 48967482 48967482 single base substitution T C downstream_gene_variant MELA-AU 3 48967482 48967482 single base substitution T C intron_variant MELA-AU 3 48968338 48968338 single base substitution C T downstream_gene_variant MELA-AU 3 48968338 48968338 single base substitution C T intron_variant MELA-AU 3 48970304 48970305 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 48970304 48970305 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 48971587 48971587 single base substitution G A intron_variant MELA-AU 3 48972088 48972088 single base substitution C T intron_variant MELA-AU 3 48972149 48972149 single base substitution C T intron_variant MELA-AU 3 48972485 48972485 single base substitution C T intron_variant MELA-AU 3 48973166 48973166 single base substitution C T intron_variant MELA-AU 3 48973175 48973175 insertion of <=200bp - T intron_variant MELA-AU 3 48973184 48973184 single base substitution G A intron_variant MELA-AU 3 48974754 48974754 single base substitution G C intron_variant MELA-AU 3 48975991 48975991 single base substitution C T intron_variant MELA-AU 3 48975991 48975991 single base substitution C T upstream_gene_variant MELA-AU 3 48976721 48976721 single base substitution C A intron_variant MELA-AU 3 48976721 48976721 single base substitution C A upstream_gene_variant MELA-AU 3 48976738 48976739 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 48976738 48976739 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 48979513 48979513 single base substitution T C intron_variant MELA-AU 3 48979513 48979513 single base substitution T C upstream_gene_variant MELA-AU 3 48979936 48979936 single base substitution C T intron_variant MELA-AU 3 48979936 48979936 single base substitution C T upstream_gene_variant MELA-AU 3 48980114 48980114 single base substitution C T intron_variant MELA-AU 3 48980114 48980114 single base substitution C T upstream_gene_variant MELA-AU 3 48980219 48980219 single base substitution G A intron_variant MELA-AU 3 48980219 48980219 single base substitution G A upstream_gene_variant MELA-AU 3 48980562 48980562 single base substitution C G intron_variant MELA-AU 3 48980562 48980562 single base substitution C G upstream_gene_variant MELA-AU 3 48980565 48980565 single base substitution C T intron_variant MELA-AU 3 48980565 48980565 single base substitution C T upstream_gene_variant MELA-AU 3 48980673 48980673 single base substitution C T exon_variant MELA-AU 3 48980673 48980673 single base substitution C T intron_variant MELA-AU 3 48981213 48981213 single base substitution C T intron_variant MELA-AU 3 48981542 48981542 single base substitution C T intron_variant MELA-AU 3 48981715 48981715 single base substitution C T intron_variant MELA-AU 3 48981735 48981735 single base substitution C T intron_variant MELA-AU 3 48982262 48982262 single base substitution C T intron_variant MELA-AU 3 48982298 48982298 single base substitution C T intron_variant MELA-AU 3 48982838 48982838 single base substitution C T downstream_gene_variant MELA-AU 3 48982838 48982838 single base substitution C T intron_variant MELA-AU 3 48982974 48982974 single base substitution T C downstream_gene_variant MELA-AU 3 48982974 48982974 single base substitution T C intron_variant MELA-AU 3 48983019 48983019 single base substitution C T downstream_gene_variant MELA-AU 3 48983019 48983019 single base substitution C T intron_variant MELA-AU 3 48983121 48983121 single base substitution A G downstream_gene_variant MELA-AU 3 48983121 48983121 single base substitution A G intron_variant MELA-AU 3 48983156 48983156 single base substitution T C downstream_gene_variant MELA-AU 3 48983156 48983156 single base substitution T C intron_variant MELA-AU 3 48984194 48984194 single base substitution G C downstream_gene_variant MELA-AU 3 48984194 48984194 single base substitution G C intron_variant MELA-AU 3 48985488 48985488 single base substitution G A downstream_gene_variant MELA-AU 3 48985488 48985488 single base substitution G A intron_variant MELA-AU 3 48985682 48985682 single base substitution C T downstream_gene_variant MELA-AU 3 48985682 48985682 single base substitution C T intron_variant MELA-AU 3 48985693 48985693 single base substitution C T downstream_gene_variant MELA-AU 3 48985693 48985693 single base substitution C T intron_variant MELA-AU 3 48986344 48986344 single base substitution C T downstream_gene_variant MELA-AU 3 48986344 48986344 single base substitution C T intron_variant MELA-AU 3 48986579 48986579 single base substitution C T downstream_gene_variant MELA-AU 3 48986579 48986579 single base substitution C T intron_variant MELA-AU 3 48986786 48986786 single base substitution C T downstream_gene_variant MELA-AU 3 48986786 48986786 single base substitution C T intron_variant MELA-AU 3 48987278 48987278 single base substitution C T downstream_gene_variant MELA-AU 3 48987278 48987278 single base substitution C T intron_variant MELA-AU 3 48988735 48988735 single base substitution C T downstream_gene_variant MELA-AU 3 48988735 48988735 single base substitution C T intron_variant MELA-AU 3 48989305 48989305 single base substitution C T downstream_gene_variant MELA-AU 3 48989305 48989305 single base substitution C T intron_variant MELA-AU 3 48989578 48989578 single base substitution C T downstream_gene_variant MELA-AU 3 48989578 48989578 single base substitution C T intron_variant MELA-AU 3 48990843 48990843 single base substitution T C downstream_gene_variant MELA-AU 3 48990843 48990843 single base substitution T C intron_variant MELA-AU 3 48991345 48991345 single base substitution C T downstream_gene_variant MELA-AU 3 48991345 48991345 single base substitution C T intron_variant MELA-AU 3 48991872 48991872 single base substitution A T intron_variant MELA-AU 3 48992132 48992132 single base substitution T A intron_variant MELA-AU 3 48992566 48992567 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 48992803 48992803 single base substitution C T intron_variant MELA-AU 3 48993734 48993734 single base substitution G A intron_variant MELA-AU 3 48994286 48994286 single base substitution C G intron_variant MELA-AU 3 48994629 48994629 single base substitution C T intron_variant MELA-AU 3 48995123 48995123 single base substitution C T intron_variant MELA-AU 3 48995798 48995798 single base substitution C T intron_variant MELA-AU 3 48996470 48996470 single base substitution C T intron_variant MELA-AU 3 48997945 48997945 single base substitution C T intron_variant MELA-AU 3 48997945 48997945 single base substitution C T upstream_gene_variant MELA-AU 3 48998914 48998915 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 48998914 48998915 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 48999030 48999030 single base substitution C T intron_variant MELA-AU 3 48999030 48999030 single base substitution C T upstream_gene_variant MELA-AU 3 48999162 48999162 single base substitution C T downstream_gene_variant MELA-AU 3 48999162 48999162 single base substitution C T intron_variant MELA-AU 3 48999162 48999162 single base substitution C T upstream_gene_variant MELA-AU 3 48999897 48999897 single base substitution C T downstream_gene_variant MELA-AU 3 48999897 48999897 single base substitution C T intron_variant MELA-AU 3 48999897 48999897 single base substitution C T upstream_gene_variant MELA-AU 3 49000222 49000222 single base substitution C T downstream_gene_variant MELA-AU 3 49000222 49000222 single base substitution C T intron_variant MELA-AU 3 49000222 49000222 single base substitution C T upstream_gene_variant MELA-AU 3 49001247 49001247 single base substitution T C downstream_gene_variant MELA-AU 3 49001247 49001247 single base substitution T C intron_variant MELA-AU 3 49001247 49001247 single base substitution T C upstream_gene_variant MELA-AU 3 49001847 49001847 single base substitution C T downstream_gene_variant MELA-AU 3 49001847 49001847 single base substitution C T intron_variant MELA-AU 3 49001847 49001847 single base substitution C T upstream_gene_variant MELA-AU 3 49002404 49002404 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49002404 49002404 single base substitution C T downstream_gene_variant MELA-AU 3 49002404 49002404 single base substitution C T exon_variant MELA-AU 3 49002404 49002404 single base substitution C T missense_variant P126S 376C>T MELA-AU 3 49002404 49002404 single base substitution C T upstream_gene_variant MELA-AU 3 49002589 49002589 single base substitution C T downstream_gene_variant MELA-AU 3 49002589 49002589 single base substitution C T intron_variant MELA-AU 3 49002589 49002589 single base substitution C T upstream_gene_variant MELA-AU 3 49002668 49002668 single base substitution C T downstream_gene_variant MELA-AU 3 49002668 49002668 single base substitution C T intron_variant MELA-AU 3 49002668 49002668 single base substitution C T upstream_gene_variant MELA-AU 3 49003141 49003141 single base substitution C T downstream_gene_variant MELA-AU 3 49003141 49003141 single base substitution C T intron_variant MELA-AU 3 49003141 49003141 single base substitution C T upstream_gene_variant MELA-AU 3 49003367 49003367 single base substitution C T downstream_gene_variant MELA-AU 3 49003367 49003367 single base substitution C T intron_variant MELA-AU 3 49003367 49003367 single base substitution C T upstream_gene_variant MELA-AU 3 49004120 49004120 single base substitution A C downstream_gene_variant MELA-AU 3 49004120 49004120 single base substitution A C intron_variant MELA-AU 3 49004120 49004120 single base substitution A C upstream_gene_variant MELA-AU 3 49004350 49004350 single base substitution C T downstream_gene_variant MELA-AU 3 49004350 49004350 single base substitution C T intron_variant MELA-AU 3 49004350 49004350 single base substitution C T upstream_gene_variant MELA-AU 3 49004382 49004382 single base substitution C T downstream_gene_variant MELA-AU 3 49004382 49004382 single base substitution C T intron_variant MELA-AU 3 49004382 49004382 single base substitution C T upstream_gene_variant MELA-AU 3 49004476 49004476 single base substitution C T downstream_gene_variant MELA-AU 3 49004476 49004476 single base substitution C T intron_variant MELA-AU 3 49004476 49004476 single base substitution C T upstream_gene_variant MELA-AU 3 49004882 49004882 single base substitution G A downstream_gene_variant MELA-AU 3 49004882 49004882 single base substitution G A intron_variant MELA-AU 3 49004882 49004882 single base substitution G A upstream_gene_variant MELA-AU 3 49005497 49005497 single base substitution C T downstream_gene_variant MELA-AU 3 49005497 49005497 single base substitution C T exon_variant MELA-AU 3 49005497 49005497 single base substitution C T intron_variant MELA-AU 3 49005497 49005497 single base substitution C T upstream_gene_variant MELA-AU 3 49005820 49005820 single base substitution T C downstream_gene_variant MELA-AU 3 49005820 49005820 single base substitution T C exon_variant MELA-AU 3 49005820 49005820 single base substitution T C intron_variant MELA-AU 3 49005899 49005899 single base substitution C T downstream_gene_variant MELA-AU 3 49005899 49005899 single base substitution C T exon_variant MELA-AU 3 49005899 49005899 single base substitution C T intron_variant MELA-AU 3 49005998 49005998 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49005998 49005998 single base substitution C T downstream_gene_variant MELA-AU 3 49005998 49005998 single base substitution C T exon_variant MELA-AU 3 49005998 49005998 single base substitution C T intron_variant MELA-AU 3 49005998 49005998 single base substitution C T synonymous_variant L190L 570C>T MELA-AU 3 49006150 49006150 single base substitution C T downstream_gene_variant MELA-AU 3 49006150 49006150 single base substitution C T intron_variant MELA-AU 3 49006150 49006150 single base substitution C T upstream_gene_variant MELA-AU 3 49006155 49006155 single base substitution T C downstream_gene_variant MELA-AU 3 49006155 49006155 single base substitution T C intron_variant MELA-AU 3 49006155 49006155 single base substitution T C upstream_gene_variant MELA-AU 3 49006347 49006347 single base substitution T G downstream_gene_variant MELA-AU 3 49006347 49006347 single base substitution T G intron_variant MELA-AU 3 49006347 49006347 single base substitution T G upstream_gene_variant MELA-AU 3 49006620 49006620 single base substitution T A downstream_gene_variant MELA-AU 3 49006620 49006620 single base substitution T A intron_variant MELA-AU 3 49006620 49006620 single base substitution T A upstream_gene_variant MELA-AU 3 49007080 49007080 single base substitution C T downstream_gene_variant MELA-AU 3 49007080 49007080 single base substitution C T intron_variant MELA-AU 3 49007080 49007080 single base substitution C T upstream_gene_variant MELA-AU 3 49007532 49007532 single base substitution C T downstream_gene_variant MELA-AU 3 49007532 49007532 single base substitution C T intron_variant MELA-AU 3 49007532 49007532 single base substitution C T upstream_gene_variant MELA-AU 3 49007659 49007659 single base substitution C T downstream_gene_variant MELA-AU 3 49007659 49007659 single base substitution C T intron_variant MELA-AU 3 49007659 49007659 single base substitution C T upstream_gene_variant MELA-AU 3 49007741 49007741 single base substitution C T downstream_gene_variant MELA-AU 3 49007741 49007741 single base substitution C T intron_variant MELA-AU 3 49007741 49007741 single base substitution C T upstream_gene_variant MELA-AU 3 49007868 49007868 single base substitution C T downstream_gene_variant MELA-AU 3 49007868 49007868 single base substitution C T intron_variant MELA-AU 3 49007868 49007868 single base substitution C T upstream_gene_variant MELA-AU 3 49008009 49008009 single base substitution C T downstream_gene_variant MELA-AU 3 49008009 49008009 single base substitution C T intron_variant MELA-AU 3 49008009 49008009 single base substitution C T upstream_gene_variant MELA-AU 3 49008926 49008926 single base substitution T C downstream_gene_variant MELA-AU 3 49008926 49008926 single base substitution T C intron_variant MELA-AU 3 49008926 49008926 single base substitution T C upstream_gene_variant MELA-AU 3 49009296 49009296 single base substitution C T downstream_gene_variant MELA-AU 3 49009296 49009296 single base substitution C T intron_variant MELA-AU 3 49009296 49009296 single base substitution C T upstream_gene_variant MELA-AU 3 49010314 49010314 single base substitution A T downstream_gene_variant MELA-AU 3 49010314 49010314 single base substitution A T intron_variant MELA-AU 3 49010314 49010314 single base substitution A T upstream_gene_variant MELA-AU 3 49010550 49010550 single base substitution T C downstream_gene_variant MELA-AU 3 49010550 49010550 single base substitution T C intron_variant MELA-AU 3 49010550 49010550 single base substitution T C upstream_gene_variant MELA-AU 3 49010793 49010793 single base substitution G A downstream_gene_variant MELA-AU 3 49010793 49010793 single base substitution G A intron_variant MELA-AU 3 49010793 49010793 single base substitution G A upstream_gene_variant MELA-AU 3 49011128 49011128 single base substitution T C downstream_gene_variant MELA-AU 3 49011128 49011128 single base substitution T C exon_variant MELA-AU 3 49011128 49011128 single base substitution T C splice_region_variant MELA-AU 3 49011666 49011666 single base substitution G A downstream_gene_variant MELA-AU 3 49011666 49011666 single base substitution G A intron_variant MELA-AU 3 49011855 49011855 single base substitution C T downstream_gene_variant MELA-AU 3 49011855 49011855 single base substitution C T intron_variant MELA-AU 3 49012147 49012147 single base substitution C T downstream_gene_variant MELA-AU 3 49012147 49012147 single base substitution C T intron_variant MELA-AU 3 49012417 49012417 single base substitution G A downstream_gene_variant MELA-AU 3 49012417 49012417 single base substitution G A exon_variant MELA-AU 3 49012417 49012417 single base substitution G A splice_region_variant MELA-AU 3 49012603 49012603 single base substitution C T downstream_gene_variant MELA-AU 3 49012603 49012603 single base substitution C T intron_variant MELA-AU 3 49013149 49013149 single base substitution C T downstream_gene_variant MELA-AU 3 49013149 49013149 single base substitution C T intron_variant MELA-AU 3 49013886 49013886 single base substitution C T downstream_gene_variant MELA-AU 3 49013886 49013886 single base substitution C T intron_variant MELA-AU 3 49014208 49014208 single base substitution C T downstream_gene_variant MELA-AU 3 49014208 49014208 single base substitution C T intron_variant MELA-AU 3 49014214 49014214 single base substitution C T downstream_gene_variant MELA-AU 3 49014214 49014214 single base substitution C T intron_variant MELA-AU 3 49014814 49014814 single base substitution C T downstream_gene_variant MELA-AU 3 49014814 49014814 single base substitution C T intron_variant MELA-AU 3 49015157 49015157 single base substitution T A downstream_gene_variant MELA-AU 3 49015157 49015157 single base substitution T A intron_variant MELA-AU 3 49015157 49015157 single base substitution T A upstream_gene_variant MELA-AU 3 49016586 49016586 single base substitution C T downstream_gene_variant MELA-AU 3 49016586 49016586 single base substitution C T intron_variant MELA-AU 3 49016586 49016586 single base substitution C T upstream_gene_variant MELA-AU 3 49016626 49016626 single base substitution C T downstream_gene_variant MELA-AU 3 49016626 49016626 single base substitution C T intron_variant MELA-AU 3 49016626 49016626 single base substitution C T upstream_gene_variant MELA-AU 3 49017036 49017036 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49017036 49017036 single base substitution C T downstream_gene_variant MELA-AU 3 49017036 49017036 single base substitution C T exon_variant MELA-AU 3 49017036 49017036 single base substitution C T synonymous_variant A361A 1083C>T MELA-AU 3 49017036 49017036 single base substitution C T upstream_gene_variant MELA-AU 3 49017488 49017488 single base substitution G A downstream_gene_variant MELA-AU 3 49017488 49017488 single base substitution G A intron_variant MELA-AU 3 49017488 49017488 single base substitution G A upstream_gene_variant MELA-AU 3 49017777 49017777 single base substitution G C downstream_gene_variant MELA-AU 3 49017777 49017777 single base substitution G C intron_variant MELA-AU 3 49017777 49017777 single base substitution G C upstream_gene_variant MELA-AU 3 49017848 49017848 single base substitution G A 3_prime_UTR_variant MELA-AU 3 49017848 49017848 single base substitution G A downstream_gene_variant MELA-AU 3 49017848 49017848 single base substitution G A synonymous_variant K392K 1176G>A MELA-AU 3 49017848 49017848 single base substitution G A upstream_gene_variant MELA-AU 3 49017929 49017929 single base substitution G A downstream_gene_variant MELA-AU 3 49017929 49017929 single base substitution G A splice_region_variant MELA-AU 3 49017929 49017929 single base substitution G A upstream_gene_variant MELA-AU 3 49018919 49018919 single base substitution C T downstream_gene_variant MELA-AU 3 49018919 49018919 single base substitution C T intron_variant MELA-AU 3 49018919 49018919 single base substitution C T upstream_gene_variant MELA-AU 3 49019186 49019186 single base substitution C T downstream_gene_variant MELA-AU 3 49019186 49019186 single base substitution C T intron_variant MELA-AU 3 49019186 49019186 single base substitution C T upstream_gene_variant MELA-AU 3 49019554 49019554 single base substitution T C downstream_gene_variant MELA-AU 3 49019554 49019554 single base substitution T C intron_variant MELA-AU 3 49019554 49019554 single base substitution T C upstream_gene_variant MELA-AU 3 49020307 49020307 single base substitution C T downstream_gene_variant MELA-AU 3 49020307 49020307 single base substitution C T exon_variant MELA-AU 3 49020307 49020307 single base substitution C T intron_variant MELA-AU 3 49020587 49020587 single base substitution C T downstream_gene_variant MELA-AU 3 49020587 49020587 single base substitution C T intron_variant MELA-AU 3 49021466 49021466 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49021466 49021466 single base substitution C T downstream_gene_variant MELA-AU 3 49022292 49022292 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49022292 49022292 single base substitution C T downstream_gene_variant MELA-AU 3 49022447 49022447 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49022447 49022447 single base substitution C T downstream_gene_variant MELA-AU 3 49024186 49024186 single base substitution G A downstream_gene_variant MELA-AU 3 49024777 49024777 single base substitution G T downstream_gene_variant MELA-AU 3 49025849 49025849 single base substitution C T downstream_gene_variant MELA-AU 3 49028102 49028102 single base substitution C T downstream_gene_variant ORCA-IN 3 48951385 48951385 single base substitution G C upstream_gene_variant ORCA-IN 3 49002573 49002573 single base substitution G T downstream_gene_variant ORCA-IN 3 49002573 49002573 single base substitution G T intron_variant ORCA-IN 3 49002573 49002573 single base substitution G T upstream_gene_variant ORCA-IN 3 49014066 49014066 single base substitution C T downstream_gene_variant ORCA-IN 3 49014066 49014066 single base substitution C T intron_variant OV-AU 3 48951428 48951428 single base substitution G A upstream_gene_variant OV-AU 3 48964853 48964853 single base substitution C G 5_prime_UTR_variant OV-AU 3 48964853 48964853 single base substitution C G downstream_gene_variant OV-AU 3 48964853 48964853 single base substitution C G intron_variant OV-AU 3 48964853 48964853 single base substitution C G upstream_gene_variant OV-AU 3 48968531 48968531 single base substitution T A downstream_gene_variant OV-AU 3 48968531 48968531 single base substitution T A intron_variant OV-AU 3 48974797 48974797 single base substitution C G intron_variant OV-AU 3 48977116 48977116 single base substitution G A intron_variant OV-AU 3 48977116 48977116 single base substitution G A upstream_gene_variant OV-AU 3 48978426 48978426 single base substitution C T intron_variant OV-AU 3 48978426 48978426 single base substitution C T upstream_gene_variant OV-AU 3 48979858 48979858 single base substitution T A intron_variant OV-AU 3 48979858 48979858 single base substitution T A upstream_gene_variant OV-AU 3 48979859 48979859 single base substitution C T intron_variant OV-AU 3 48979859 48979859 single base substitution C T upstream_gene_variant OV-AU 3 48981848 48981848 single base substitution T C intron_variant OV-AU 3 48991479 48991479 single base substitution C A downstream_gene_variant OV-AU 3 48991479 48991479 single base substitution C A intron_variant OV-AU 3 48995425 48995425 single base substitution G T intron_variant OV-AU 3 49005309 49005309 single base substitution G C downstream_gene_variant OV-AU 3 49005309 49005309 single base substitution G C intron_variant OV-AU 3 49005309 49005309 single base substitution G C upstream_gene_variant OV-AU 3 49025080 49025080 single base substitution G T downstream_gene_variant OV-AU 3 49027677 49027677 single base substitution C T downstream_gene_variant PACA-AU 3 48955522 48955522 single base substitution A C upstream_gene_variant PACA-AU 3 48955531 48955531 single base substitution G T upstream_gene_variant PACA-AU 3 48956177 48956177 single base substitution C T upstream_gene_variant PACA-AU 3 48956480 48956480 deletion of <=200bp G - intron_variant PACA-AU 3 48956480 48956480 deletion of <=200bp G - upstream_gene_variant PACA-AU 3 48960634 48960634 single base substitution C T intron_variant PACA-AU 3 48960634 48960634 single base substitution C T upstream_gene_variant PACA-AU 3 48967924 48967924 insertion of <=200bp - A downstream_gene_variant PACA-AU 3 48967924 48967924 insertion of <=200bp - A intron_variant PACA-AU 3 48970749 48970749 single base substitution G T intron_variant PACA-AU 3 48971177 48971177 single base substitution G A intron_variant PACA-AU 3 48973645 48973645 single base substitution C T intron_variant PACA-AU 3 48974635 48974635 single base substitution C A intron_variant PACA-AU 3 48978241 48978241 single base substitution A T intron_variant PACA-AU 3 48978241 48978241 single base substitution A T upstream_gene_variant PACA-AU 3 48984124 48984124 single base substitution G A downstream_gene_variant PACA-AU 3 48984124 48984124 single base substitution G A intron_variant PACA-AU 3 48985142 48985142 single base substitution A C downstream_gene_variant PACA-AU 3 48985142 48985142 single base substitution A C intron_variant PACA-AU 3 48987103 48987103 single base substitution G T downstream_gene_variant PACA-AU 3 48987103 48987103 single base substitution G T intron_variant PACA-AU 3 48992668 48992712 deletion of <=200bp AGGACTTTTAATCCTCTGGTTACATGTTGATCTAATAGAACTGCA - intron_variant PACA-AU 3 48993776 48993776 single base substitution T A intron_variant PACA-AU 3 48995179 48995179 single base substitution T C intron_variant PACA-AU 3 49008079 49008079 single base substitution C G 3_prime_UTR_variant PACA-AU 3 49008079 49008079 single base substitution C G downstream_gene_variant PACA-AU 3 49008079 49008079 single base substitution C G exon_variant PACA-AU 3 49008079 49008079 single base substitution C G missense_variant R238G 712C>G PACA-AU 3 49008079 49008079 single base substitution C G upstream_gene_variant PACA-AU 3 49010114 49010114 single base substitution G T downstream_gene_variant PACA-AU 3 49010114 49010114 single base substitution G T intron_variant PACA-AU 3 49010114 49010114 single base substitution G T upstream_gene_variant PACA-AU 3 49010348 49010348 single base substitution A G downstream_gene_variant PACA-AU 3 49010348 49010348 single base substitution A G intron_variant PACA-AU 3 49010348 49010348 single base substitution A G upstream_gene_variant PACA-AU 3 49024883 49024883 single base substitution G T downstream_gene_variant PACA-AU 3 49028776 49028776 deletion of <=200bp C - downstream_gene_variant PACA-CA 3 48952403 48952403 single base substitution C T upstream_gene_variant PACA-CA 3 48955021 48955021 single base substitution C G upstream_gene_variant PACA-CA 3 48959810 48959810 single base substitution C A 5_prime_UTR_variant PACA-CA 3 48959810 48959810 single base substitution C A intron_variant PACA-CA 3 48959810 48959810 single base substitution C A upstream_gene_variant PACA-CA 3 48961784 48961784 insertion of <=200bp - ATT intron_variant PACA-CA 3 48961784 48961784 insertion of <=200bp - ATT upstream_gene_variant PACA-CA 3 48966176 48966176 single base substitution T C downstream_gene_variant PACA-CA 3 48966176 48966176 single base substitution T C intron_variant PACA-CA 3 48968910 48968910 single base substitution G A downstream_gene_variant PACA-CA 3 48968910 48968910 single base substitution G A intron_variant PACA-CA 3 48971143 48971143 single base substitution C T intron_variant PACA-CA 3 48978622 48978622 single base substitution A T intron_variant PACA-CA 3 48978622 48978622 single base substitution A T upstream_gene_variant PACA-CA 3 48979598 48979598 single base substitution T C intron_variant PACA-CA 3 48979598 48979598 single base substitution T C upstream_gene_variant PACA-CA 3 48987289 48987289 single base substitution G A downstream_gene_variant PACA-CA 3 48987289 48987289 single base substitution G A intron_variant PACA-CA 3 48992302 48992302 single base substitution G T intron_variant PACA-CA 3 49003957 49003957 single base substitution G A downstream_gene_variant PACA-CA 3 49003957 49003957 single base substitution G A intron_variant PACA-CA 3 49003957 49003957 single base substitution G A upstream_gene_variant PACA-CA 3 49005481 49005481 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 49005481 49005481 deletion of <=200bp T - intron_variant PACA-CA 3 49005481 49005481 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 49011325 49011325 single base substitution T C downstream_gene_variant PACA-CA 3 49011325 49011325 single base substitution T C intron_variant PACA-CA 3 49014571 49014571 single base substitution G T downstream_gene_variant PACA-CA 3 49014571 49014571 single base substitution G T intron_variant PACA-CA 3 49016491 49016491 single base substitution C T downstream_gene_variant PACA-CA 3 49016491 49016491 single base substitution C T intron_variant PACA-CA 3 49016491 49016491 single base substitution C T upstream_gene_variant PACA-CA 3 49018589 49018589 single base substitution C T downstream_gene_variant PACA-CA 3 49018589 49018589 single base substitution C T intron_variant PACA-CA 3 49018589 49018589 single base substitution C T upstream_gene_variant PAEN-AU 3 49019372 49019372 single base substitution T G downstream_gene_variant PAEN-AU 3 49019372 49019372 single base substitution T G intron_variant PAEN-AU 3 49019372 49019372 single base substitution T G upstream_gene_variant PAEN-AU 3 49024263 49024263 single base substitution G A downstream_gene_variant PAEN-IT 3 48995561 48995561 single base substitution G T intron_variant PBCA-DE 3 48957917 48957917 single base substitution A G intron_variant PBCA-DE 3 48957917 48957917 single base substitution A G upstream_gene_variant PBCA-DE 3 48963676 48963677 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 3 48963676 48963677 deletion of <=200bp GT - intron_variant PBCA-DE 3 48963676 48963677 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 48966762 48966762 single base substitution G A downstream_gene_variant PBCA-DE 3 48966762 48966762 single base substitution G A intron_variant PBCA-DE 3 48978375 48978375 insertion of <=200bp - G intron_variant PBCA-DE 3 48978375 48978375 insertion of <=200bp - G upstream_gene_variant PBCA-DE 3 48996701 48996701 single base substitution A G intron_variant PBCA-DE 3 49010156 49010156 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 49010156 49010156 insertion of <=200bp - T intron_variant PBCA-DE 3 49010156 49010156 insertion of <=200bp - T upstream_gene_variant PBCA-DE 3 49015855 49015862 deletion of <=200bp TGTGTGTG - downstream_gene_variant PBCA-DE 3 49015855 49015862 deletion of <=200bp TGTGTGTG - intron_variant PBCA-DE 3 49015855 49015862 deletion of <=200bp TGTGTGTG - upstream_gene_variant PBCA-DE 3 49028688 49028688 deletion of <=200bp C - downstream_gene_variant PRAD-CA 3 48956521 48956521 single base substitution C T intron_variant PRAD-CA 3 48956521 48956521 single base substitution C T upstream_gene_variant PRAD-CA 3 48983363 48983363 single base substitution C A downstream_gene_variant PRAD-CA 3 48983363 48983363 single base substitution C A intron_variant PRAD-CA 3 48994113 48994113 single base substitution G A intron_variant PRAD-CA 3 49015898 49015898 single base substitution G A downstream_gene_variant PRAD-CA 3 49015898 49015898 single base substitution G A intron_variant PRAD-CA 3 49015898 49015898 single base substitution G A upstream_gene_variant PRAD-CA 3 49019724 49019724 single base substitution T C downstream_gene_variant PRAD-CA 3 49019724 49019724 single base substitution T C intron_variant PRAD-CA 3 49019724 49019724 single base substitution T C upstream_gene_variant PRAD-CA 3 49023968 49023968 single base substitution C A downstream_gene_variant PRAD-UK 3 48952030 48952030 single base substitution T C upstream_gene_variant PRAD-UK 3 48960676 48960676 insertion of <=200bp - A intron_variant PRAD-UK 3 48960676 48960676 insertion of <=200bp - A upstream_gene_variant PRAD-UK 3 48964438 48964438 single base substitution A G 5_prime_UTR_variant PRAD-UK 3 48964438 48964438 single base substitution A G downstream_gene_variant PRAD-UK 3 48964438 48964438 single base substitution A G intron_variant PRAD-UK 3 48964438 48964438 single base substitution A G upstream_gene_variant PRAD-UK 3 48972608 48972608 single base substitution G A intron_variant PRAD-UK 3 48976654 48976654 single base substitution G A intron_variant PRAD-UK 3 48976654 48976654 single base substitution G A upstream_gene_variant PRAD-UK 3 48984412 48984412 single base substitution G T downstream_gene_variant PRAD-UK 3 48984412 48984412 single base substitution G T intron_variant PRAD-UK 3 48991896 48991896 single base substitution G A intron_variant PRAD-US 3 49004609 49004609 single base substitution C T 3_prime_UTR_variant PRAD-US 3 49004609 49004609 single base substitution C T downstream_gene_variant PRAD-US 3 49004609 49004609 single base substitution C T exon_variant PRAD-US 3 49004609 49004609 single base substitution C T intron_variant PRAD-US 3 49004609 49004609 single base substitution C T stop_gained R147* 439C>T PRAD-US 3 49004609 49004609 single base substitution C T upstream_gene_variant PRAD-US 3 49028271 49028271 single base substitution G A downstream_gene_variant READ-US 3 48965099 48965099 single base substitution G A downstream_gene_variant READ-US 3 48965099 48965099 single base substitution G A exon_variant READ-US 3 48965099 48965099 single base substitution G A intron_variant READ-US 3 48965099 48965099 single base substitution G A synonymous_variant E36E 108G>A READ-US 3 48965099 48965099 single base substitution G A upstream_gene_variant READ-US 3 49011189 49011189 single base substitution G C 3_prime_UTR_variant READ-US 3 49011189 49011189 single base substitution G C downstream_gene_variant READ-US 3 49011189 49011189 single base substitution G C exon_variant READ-US 3 49011189 49011189 single base substitution G C missense_variant W276C 828G>C RECA-EU 3 48953279 48953279 single base substitution C T upstream_gene_variant RECA-EU 3 48984989 48984989 single base substitution A G downstream_gene_variant RECA-EU 3 48984989 48984989 single base substitution A G intron_variant RECA-EU 3 48987474 48987474 single base substitution C T downstream_gene_variant RECA-EU 3 48987474 48987474 single base substitution C T intron_variant RECA-EU 3 48993309 48993309 single base substitution G A intron_variant RECA-EU 3 49000109 49000109 single base substitution G C downstream_gene_variant RECA-EU 3 49000109 49000109 single base substitution G C intron_variant RECA-EU 3 49000109 49000109 single base substitution G C upstream_gene_variant RECA-EU 3 49026809 49026809 single base substitution A G downstream_gene_variant SKCA-BR 3 48956479 48956479 single base substitution T G intron_variant SKCA-BR 3 48956479 48956479 single base substitution T G upstream_gene_variant SKCA-BR 3 48956821 48956821 single base substitution T G intron_variant SKCA-BR 3 48956821 48956821 single base substitution T G upstream_gene_variant SKCA-BR 3 48958878 48958878 single base substitution T C intron_variant SKCA-BR 3 48958878 48958878 single base substitution T C upstream_gene_variant SKCA-BR 3 48960609 48960609 single base substitution C T intron_variant SKCA-BR 3 48960609 48960609 single base substitution C T upstream_gene_variant SKCA-BR 3 48971182 48971182 single base substitution C T intron_variant SKCA-BR 3 48972933 48972933 single base substitution T C intron_variant SKCA-BR 3 48975479 48975479 insertion of <=200bp - CAA intron_variant SKCA-BR 3 48975988 48975988 single base substitution C T intron_variant SKCA-BR 3 48975988 48975988 single base substitution C T upstream_gene_variant SKCA-BR 3 48978241 48978241 insertion of <=200bp - AAATAT intron_variant SKCA-BR 3 48978241 48978241 insertion of <=200bp - AAATAT upstream_gene_variant SKCA-BR 3 48978912 48978912 single base substitution C T intron_variant SKCA-BR 3 48978912 48978912 single base substitution C T upstream_gene_variant SKCA-BR 3 48979016 48979016 single base substitution C T intron_variant SKCA-BR 3 48979016 48979016 single base substitution C T upstream_gene_variant SKCA-BR 3 48980194 48980194 single base substitution C T intron_variant SKCA-BR 3 48980194 48980194 single base substitution C T upstream_gene_variant SKCA-BR 3 48986746 48986746 single base substitution T G downstream_gene_variant SKCA-BR 3 48986746 48986746 single base substitution T G intron_variant SKCA-BR 3 48997783 48997783 single base substitution T G intron_variant SKCA-BR 3 48997783 48997783 single base substitution T G upstream_gene_variant SKCA-BR 3 49000626 49000626 single base substitution A G downstream_gene_variant SKCA-BR 3 49000626 49000626 single base substitution A G intron_variant SKCA-BR 3 49000626 49000626 single base substitution A G upstream_gene_variant SKCA-BR 3 49002583 49002583 single base substitution C T downstream_gene_variant SKCA-BR 3 49002583 49002583 single base substitution C T intron_variant SKCA-BR 3 49002583 49002583 single base substitution C T upstream_gene_variant SKCA-BR 3 49002809 49002809 single base substitution C T downstream_gene_variant SKCA-BR 3 49002809 49002809 single base substitution C T intron_variant SKCA-BR 3 49002809 49002809 single base substitution C T upstream_gene_variant SKCA-BR 3 49007101 49007101 single base substitution C T downstream_gene_variant SKCA-BR 3 49007101 49007101 single base substitution C T intron_variant SKCA-BR 3 49007101 49007101 single base substitution C T upstream_gene_variant SKCA-BR 3 49017347 49017348 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 3 49017347 49017348 deletion of <=200bp CT - intron_variant SKCA-BR 3 49017347 49017348 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 3 49017975 49017975 single base substitution C T downstream_gene_variant SKCA-BR 3 49017975 49017975 single base substitution C T intron_variant SKCA-BR 3 49017975 49017975 single base substitution C T upstream_gene_variant SKCA-BR 3 49020259 49020259 single base substitution A C downstream_gene_variant SKCA-BR 3 49020259 49020259 single base substitution A C exon_variant SKCA-BR 3 49020259 49020259 single base substitution A C intron_variant SKCA-BR 3 49021039 49021039 insertion of <=200bp - CA 3_prime_UTR_variant SKCA-BR 3 49021039 49021039 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 49021233 49021233 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 49021233 49021233 single base substitution C T downstream_gene_variant SKCA-BR 3 49022359 49022359 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 49022359 49022359 single base substitution C T downstream_gene_variant SKCA-BR 3 49023362 49023362 single base substitution T G 3_prime_UTR_variant SKCA-BR 3 49023362 49023362 single base substitution T G downstream_gene_variant SKCA-BR 3 49025009 49025009 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 3 49025010 49025010 insertion of <=200bp - TTAAA downstream_gene_variant SKCA-BR 3 49025011 49025011 single base substitution A T downstream_gene_variant SKCA-BR 3 49028023 49028023 single base substitution A C downstream_gene_variant SKCM-US 3 48956243 48956243 single base substitution C T upstream_gene_variant SKCM-US 3 48956246 48956246 single base substitution G A upstream_gene_variant SKCM-US 3 48956273 48956273 single base substitution C T 5_prime_UTR_variant SKCM-US 3 48956273 48956273 single base substitution C T exon_variant SKCM-US 3 48956273 48956273 single base substitution C T upstream_gene_variant SKCM-US 3 48965197 48965197 single base substitution C T downstream_gene_variant SKCM-US 3 48965197 48965197 single base substitution C T exon_variant SKCM-US 3 48965197 48965197 single base substitution C T intron_variant SKCM-US 3 48965197 48965197 single base substitution C T missense_variant S69F 206C>T SKCM-US 3 48965197 48965197 single base substitution C T upstream_gene_variant SKCM-US 3 49002366 49002366 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49002366 49002366 single base substitution C T downstream_gene_variant SKCM-US 3 49002366 49002366 single base substitution C T exon_variant SKCM-US 3 49002366 49002366 single base substitution C T missense_variant S113F 338C>T SKCM-US 3 49002366 49002366 single base substitution C T upstream_gene_variant SKCM-US 3 49002404 49002404 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49002404 49002404 single base substitution C T downstream_gene_variant SKCM-US 3 49002404 49002404 single base substitution C T exon_variant SKCM-US 3 49002404 49002404 single base substitution C T missense_variant P126S 376C>T SKCM-US 3 49002404 49002404 single base substitution C T upstream_gene_variant SKCM-US 3 49005998 49005998 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49005998 49005998 single base substitution C T downstream_gene_variant SKCM-US 3 49005998 49005998 single base substitution C T exon_variant SKCM-US 3 49005998 49005998 single base substitution C T intron_variant SKCM-US 3 49005998 49005998 single base substitution C T synonymous_variant L190L 570C>T SKCM-US 3 49005999 49005999 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49005999 49005999 single base substitution C T downstream_gene_variant SKCM-US 3 49005999 49005999 single base substitution C T exon_variant SKCM-US 3 49005999 49005999 single base substitution C T intron_variant SKCM-US 3 49005999 49005999 single base substitution C T missense_variant R191C 571C>T SKCM-US 3 49006032 49006032 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49006032 49006032 single base substitution C T downstream_gene_variant SKCM-US 3 49006032 49006032 single base substitution C T exon_variant SKCM-US 3 49006032 49006032 single base substitution C T intron_variant SKCM-US 3 49006032 49006032 single base substitution C T missense_variant P202S 604C>T SKCM-US 3 49008031 49008031 deletion of <=200bp C - 3_prime_UTR_variant SKCM-US 3 49008031 49008031 deletion of <=200bp C - downstream_gene_variant SKCM-US 3 49008031 49008031 deletion of <=200bp C - exon_variant SKCM-US 3 49008031 49008031 deletion of <=200bp C - frameshift_variant H222 SKCM-US 3 49008031 49008031 deletion of <=200bp C - upstream_gene_variant SKCM-US 3 49008135 49008135 single base substitution C T downstream_gene_variant SKCM-US 3 49008135 49008135 single base substitution C T exon_variant SKCM-US 3 49008135 49008135 single base substitution C T splice_region_variant SKCM-US 3 49008135 49008135 single base substitution C T upstream_gene_variant SKCM-US 3 49011154 49011154 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49011154 49011154 single base substitution C T downstream_gene_variant SKCM-US 3 49011154 49011154 single base substitution C T exon_variant SKCM-US 3 49011154 49011154 single base substitution C T missense_variant H265Y 793C>T SKCM-US 3 49012254 49012254 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49012254 49012254 single base substitution C T downstream_gene_variant SKCM-US 3 49012254 49012254 single base substitution C T exon_variant SKCM-US 3 49012254 49012254 single base substitution C T missense_variant P298L 893C>T SKCM-US 3 49017013 49017013 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49017013 49017013 single base substitution C T downstream_gene_variant SKCM-US 3 49017013 49017013 single base substitution C T exon_variant SKCM-US 3 49017013 49017013 single base substitution C T stop_gained Q354* 1060C>T SKCM-US 3 49017013 49017013 single base substitution C T upstream_gene_variant SKCM-US 3 49020365 49020365 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49020365 49020365 single base substitution G A downstream_gene_variant SKCM-US 3 49020365 49020365 single base substitution G A exon_variant SKCM-US 3 49020365 49020365 single base substitution G A missense_variant E455K 1363G>A SKCM-US 3 49020677 49020677 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49020677 49020677 single base substitution C T downstream_gene_variant SKCM-US 3 49020677 49020677 single base substitution C T exon_variant SKCM-US 3 49020677 49020677 single base substitution C T synonymous_variant L486L 1456C>T SKCM-US 3 49028019 49028019 single base substitution C T downstream_gene_variant STAD-US 3 48965138 48965138 deletion of <=200bp G - downstream_gene_variant STAD-US 3 48965138 48965138 deletion of <=200bp G - exon_variant STAD-US 3 48965138 48965138 deletion of <=200bp G - frameshift_variant Q49 STAD-US 3 48965138 48965138 deletion of <=200bp G - intron_variant STAD-US 3 48965138 48965138 deletion of <=200bp G - upstream_gene_variant STAD-US 3 49004695 49004695 single base substitution C T 3_prime_UTR_variant STAD-US 3 49004695 49004695 single base substitution C T downstream_gene_variant STAD-US 3 49004695 49004695 single base substitution C T exon_variant STAD-US 3 49004695 49004695 single base substitution C T intron_variant STAD-US 3 49004695 49004695 single base substitution C T synonymous_variant D175D 525C>T STAD-US 3 49004695 49004695 single base substitution C T upstream_gene_variant STAD-US 3 49004710 49004710 single base substitution T C downstream_gene_variant STAD-US 3 49004710 49004710 single base substitution T C exon_variant STAD-US 3 49004710 49004710 single base substitution T C intron_variant STAD-US 3 49004710 49004710 single base substitution T C splice_donor_variant STAD-US 3 49004710 49004710 single base substitution T C upstream_gene_variant STAD-US 3 49006041 49006041 single base substitution G T 3_prime_UTR_variant STAD-US 3 49006041 49006041 single base substitution G T downstream_gene_variant STAD-US 3 49006041 49006041 single base substitution G T exon_variant STAD-US 3 49006041 49006041 single base substitution G T intron_variant STAD-US 3 49006041 49006041 single base substitution G T stop_gained E205* 613G>T STAD-US 3 49006074 49006074 single base substitution A G 3_prime_UTR_variant STAD-US 3 49006074 49006074 single base substitution A G downstream_gene_variant STAD-US 3 49006074 49006074 single base substitution A G exon_variant STAD-US 3 49006074 49006074 single base substitution A G intron_variant STAD-US 3 49006074 49006074 single base substitution A G missense_variant R216G 646A>G STAD-US 3 49006074 49006074 single base substitution A G upstream_gene_variant STAD-US 3 49008080 49008080 single base substitution G A 3_prime_UTR_variant STAD-US 3 49008080 49008080 single base substitution G A downstream_gene_variant STAD-US 3 49008080 49008080 single base substitution G A exon_variant STAD-US 3 49008080 49008080 single base substitution G A missense_variant R238Q 713G>A STAD-US 3 49008080 49008080 single base substitution G A upstream_gene_variant STAD-US 3 49011181 49011181 single base substitution C T 3_prime_UTR_variant STAD-US 3 49011181 49011181 single base substitution C T downstream_gene_variant STAD-US 3 49011181 49011181 single base substitution C T exon_variant STAD-US 3 49011181 49011181 single base substitution C T missense_variant R274W 820C>T STAD-US 3 49012281 49012281 single base substitution A G 3_prime_UTR_variant STAD-US 3 49012281 49012281 single base substitution A G downstream_gene_variant STAD-US 3 49012281 49012281 single base substitution A G exon_variant STAD-US 3 49012281 49012281 single base substitution A G missense_variant N307S 920A>G STAD-US 3 49017838 49017838 single base substitution T A 3_prime_UTR_variant STAD-US 3 49017838 49017838 single base substitution T A downstream_gene_variant STAD-US 3 49017838 49017838 single base substitution T A missense_variant I389N 1166T>A STAD-US 3 49017838 49017838 single base substitution T A upstream_gene_variant STAD-US 3 49017843 49017843 single base substitution G A 3_prime_UTR_variant STAD-US 3 49017843 49017843 single base substitution G A downstream_gene_variant STAD-US 3 49017843 49017843 single base substitution G A missense_variant E391K 1171G>A STAD-US 3 49017843 49017843 single base substitution G A upstream_gene_variant STAD-US 3 49027828 49027828 single base substitution C T downstream_gene_variant THCA-US 3 48955844 48955844 single base substitution C A upstream_gene_variant UCEC-US 3 48955765 48955765 single base substitution C T upstream_gene_variant UCEC-US 3 48956193 48956193 single base substitution C A upstream_gene_variant UCEC-US 3 48965057 48965057 insertion of <=200bp - GAA downstream_gene_variant UCEC-US 3 48965057 48965057 insertion of <=200bp - GAA exon_variant UCEC-US 3 48965057 48965057 insertion of <=200bp - GAA inframe_insertion E22EK UCEC-US 3 48965057 48965057 insertion of <=200bp - GAA intron_variant UCEC-US 3 48965057 48965057 insertion of <=200bp - GAA upstream_gene_variant UCEC-US 3 48965100 48965100 single base substitution G A downstream_gene_variant UCEC-US 3 48965100 48965100 single base substitution G A exon_variant UCEC-US 3 48965100 48965100 single base substitution G A intron_variant UCEC-US 3 48965100 48965100 single base substitution G A missense_variant D37N 109G>A UCEC-US 3 48965100 48965100 single base substitution G A upstream_gene_variant UCEC-US 3 48965219 48965219 single base substitution C T downstream_gene_variant UCEC-US 3 48965219 48965219 single base substitution C T exon_variant UCEC-US 3 48965219 48965219 single base substitution C T intron_variant UCEC-US 3 48965219 48965219 single base substitution C T synonymous_variant H76H 228C>T UCEC-US 3 49011156 49011156 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49011156 49011156 single base substitution C T downstream_gene_variant UCEC-US 3 49011156 49011156 single base substitution C T exon_variant UCEC-US 3 49011156 49011156 single base substitution C T synonymous_variant H265H 795C>T UCEC-US 3 49011195 49011195 single base substitution G T 3_prime_UTR_variant UCEC-US 3 49011195 49011195 single base substitution G T downstream_gene_variant UCEC-US 3 49011195 49011195 single base substitution G T exon_variant UCEC-US 3 49011195 49011195 single base substitution G T synonymous_variant T278T 834G>T UCEC-US 3 49017027 49017027 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49017027 49017027 single base substitution G A downstream_gene_variant UCEC-US 3 49017027 49017027 single base substitution G A exon_variant UCEC-US 3 49017027 49017027 single base substitution G A synonymous_variant A358A 1074G>A UCEC-US 3 49017027 49017027 single base substitution G A upstream_gene_variant UCEC-US 3 49017843 49017843 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49017843 49017843 single base substitution G A downstream_gene_variant UCEC-US 3 49017843 49017843 single base substitution G A missense_variant E391K 1171G>A UCEC-US 3 49017843 49017843 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM1045973 c.109G>A p.D37N Substitution - Missense 3:48927667-48927667 + TCGA-HC-7820-01 COSM4393340 c.439C>T p.R147* Substitution - Nonsense 3:48967176-48967176 + TCGA-57-1584-01 COSM82004 c.894C>T p.P298P Substitution - coding silent 3:48974822-48974822 + sysucc-834T COSM5486365 c.1153A>T p.T385S Substitution - Missense 3:48980392-48980392 + ESO-859 COSM1238228 c.1188G>A p.R396R Substitution - coding silent 3:48980427-48980427 + PD6647a COSM3719950 c.323+1G>A p.? Unknown 3:48961680-48961680 + TCGA-EE-A2MT-06 COSM3595135 c.570C>T p.L190L Substitution - coding silent 3:48968565-48968565 + ME029T COSM226522 c.538+1G>A p.? Unknown 3:48967276-48967276 + CHC1566T COSM4788829 c.427A>G p.M143V Substitution - Missense 3:48967164-48967164 + CSCC-56-T COSM4467118 c.1471C>T p.H491Y Substitution - Missense 3:48983259-48983259 + I2L-P7-Tumor-Organoid COSM5355613 c.3G>C p.M1I Substitution - Missense 3:48927561-48927561 + TCGA-GN-A266-06 COSM3595138 c.793C>T p.H265Y Substitution - Missense 3:48973721-48973721 + TCGA-AX-A0J0-01 COSM274044 c.834G>T p.T278T Substitution - coding silent 3:48973762-48973762 + pfg143T COSM4747187 c.403delC p.P136fs*71 Deletion - Frameshift 3:48967140-48967140 + TCGA-B5-A11N-01 COSM1045976 c.1171G>A p.E391K Substitution - Missense 3:48980410-48980410 + MOLT-4 COSM1670185 c.1436C>T p.A479V Substitution - Missense 3:48983224-48983224 + 12-P2194 COSM4584447 c.1191C>T p.V397V Substitution - coding silent 3:48980430-48980430 + DLD1 COSM4625115 c.686C>A p.P229H Substitution - Missense 3:48970620-48970620 + TCGA-EB-A42Z-01 COSM3071223 c.1363G>A p.E455K Substitution - Missense 3:48982932-48982932 + B68-Tumor COSM1753258 c.458C>G p.S153C Substitution - Missense 3:48967195-48967195 + CSCC-17-T COSM4515396 c.1083_1084CC>TT p.L362F Substitution - Missense 3:48979603-48979604 + TCGA-G4-6302-01 COSM3696136 c.1257+1G>A p.? Unknown 3:48980497-48980497 + TCGA-BR-4292-01 COSM4118339 c.538+2T>C p.? Unknown 3:48967277-48967277 + TCGA-AP-A0LM-01 COSM190441 c.1074G>A p.A358A Substitution - coding silent 3:48979594-48979594 + TCGA-BR-6565-01 COSM4118341 c.646A>G p.R216G Substitution - Missense 3:48968641-48968641 + TCGA-FW-A3R5-06 COSM3916246 c.893C>T p.P298L Substitution - Missense 3:48974821-48974821 + HCT15 COSM3071225 c.1479C>A p.T493T Substitution - coding silent 3:48983267-48983267 + T3658 COSM4324939 c.72G>A p.E24E Substitution - coding silent 3:48927630-48927630 + STC263 COSM5059791 c.1221G>A p.W407* Substitution - Nonsense 3:48980460-48980460 + CHC2115T COSM4793414 c.66G>A p.E22E Substitution - coding silent 3:48927624-48927624 + DLD1 COSM3071225 c.1479C>A p.T493T Substitution - coding silent 3:48983267-48983267 + TCGA-EE-A2MU-06 COSM3595132 c.206C>T p.S69F Substitution - Missense 3:48927764-48927764 + ESO01T COSM1172989 c.1048G>A p.V350M Substitution - Missense 3:48979568-48979568 + TCGA-C5-A1MQ-01 COSM4827260 c.327C>G p.Y109* Substitution - Nonsense 3:48964922-48964922 + YUKIL COSM1692764 c.466T>A p.C156S Substitution - Missense 3:48967203-48967203 + PASLZM COSM5006287 c.1390G>A p.A464T Substitution - Missense 3:48982959-48982959 + YUMOKI COSM5399566 c.94C>T p.P32S Substitution - Missense 3:48927652-48927652 + Pat_74_A COSM5864762 c.308C>T p.S103L Substitution - Missense 3:48961664-48961664 + CHC1566T COSM4788829 c.427A>G p.M143V Substitution - Missense 3:48967164-48967164 + TCGA-D3-A1QB-06 COSM3595140 c.1456C>T p.L486L Substitution - coding silent 3:48983244-48983244 + YUGEMA COSM5399567 c.940-2A>G p.? Unknown 3:48974956-48974956 + TCGA-HU-A4G9-01 COSM4118338 c.525C>T p.D175D Substitution - coding silent 3:48967262-48967262 + HCC063T COSM5812410 c.1385A>T p.E462V Substitution - Missense 3:48982954-48982954 + MDS-11 COSM210937 c.1451G>T p.R484I Substitution - Missense 3:48983239-48983239 + T2197 COSM4663318 c.635G>A p.R212H Substitution - Missense 3:48968630-48968630 + PT27 COSM3595136 c.571C>T p.R191C Substitution - Missense 3:48968566-48968566 + SW480 COSM4655890 c.797C>T p.A266V Substitution - Missense 3:48973725-48973725 + TCGA-BR-6452-01 COSM4118345 c.1166T>A p.I389N Substitution - Missense 3:48980405-48980405 + SJRHB059R COSM3738153 c.369G>C p.Q123H Substitution - Missense 3:48964964-48964964 + 3844_T COSM3945543 c.1103A>T p.Y368F Substitution - Missense 3:48979623-48979623 + pfg311T COSM4754737 c.1201C>A p.L401M Substitution - Missense 3:48980440-48980440 + TCGA-A2-A0T5-01 COSM3824096 c.939+2T>G p.? Unknown 3:48974869-48974869 + TCGA-FW-A3R5-06 COSM3916245 c.604C>T p.P202S Substitution - Missense 3:48968599-48968599 + TCGA-GN-A26A-06 COSM3595133 c.338C>T p.S113F Substitution - Missense 3:48964933-48964933 + TCGA-DI-A0WH-01 COSM1045972 c.66_67insGAA p.E29_D30insE Insertion - In frame 3:48927624-48927625 + TCGA-EE-A2GD-06 COSM3595136 c.571C>T p.R191C Substitution - Missense 3:48968566-48968566 + TCGA-CC-5259-01 COSM4928232 c.632G>C p.R211T Substitution - Missense 3:48968627-48968627 + TCGA-BS-A0UA-01 COSM1045976 c.1171G>A p.E391K Substitution - Missense 3:48980410-48980410 + TCGA-Q1-A73O-01 COSM4834690 c.1101C>T p.F367F Substitution - coding silent 3:48979621-48979621 + TCGA-18-3419-01 COSM731307 c.632G>T p.R211M Substitution - Missense 3:48968627-48968627 + PT37 COSM3595136 c.571C>T p.R191C Substitution - Missense 3:48968566-48968566 + CSCC-27-T COSM3595135 c.570C>T p.L190L Substitution - coding silent 3:48968565-48968565 + CHC892T COSM4958695 c.1409G>A p.G470E Substitution - Missense 3:48982978-48982978 + TCGA-DG-A2KK-01 COSM4828210 c.642C>T p.L214L Substitution - coding silent 3:48968637-48968637 + 31 COSM5733191 c.509C>T p.S170L Substitution - Missense 3:48967246-48967246 + YUKLAB COSM1692765 c.595C>T p.P199S Substitution - Missense 3:48968590-48968590 + TCGA-F5-6814-01 COSM3427693 c.108G>A p.E36E Substitution - coding silent 3:48927666-48927666 + TCGA-D1-A174-01 COSM1045976 c.1171G>A p.E391K Substitution - Missense 3:48980410-48980410 + CHC2115T COSM4793414 c.66G>A p.E22E Substitution - coding silent 3:48927624-48927624 + ATL075 COSM5708798 c.72_73insGAA p.E29_D30insE Insertion - In frame 3:48927630-48927631 + HCT-116 COSM1670184 c.883A>G p.K295E Substitution - Missense 3:48973811-48973811 + 587278 COSM1183598 c.1024C>T p.R342C Substitution - Missense 3:48979544-48979544 + TCGA-AP-A059-01 COSM1045974 c.228C>T p.H76H Substitution - coding silent 3:48927786-48927786 + TCGA-A5-A0VP-01 COSM1045975 c.795C>T p.H265H Substitution - coding silent 3:48973723-48973723 + TCGA-A6-5661-01 COSM1423847 c.980T>C p.L327P Substitution - Missense 3:48979500-48979500 + TCGA-HU-A4GT-01 COSM4118344 c.920A>G p.N307S Substitution - Missense 3:48974848-48974848 + sysucc-1370T COSM5471750 c.485G>A p.R162H Substitution - Missense 3:48967222-48967222 + 526LT COSM4381542 c.758A>G p.N253S Substitution - Missense 3:48970692-48970692 + TCGA-GM-A2DD-01 COSM3824095 c.782G>A p.R261H Substitution - Missense 3:48973710-48973710 + TCGA-BR-8487-01 COSM4118343 c.820C>T p.R274W Substitution - Missense 3:48973748-48973748 + Pat_74_B COSM5864762 c.308C>T p.S103L Substitution - Missense 3:48961664-48961664 + HCT8 COSM3071225 c.1479C>A p.T493T Substitution - coding silent 3:48983267-48983267 + TCGA-EX-A1H5-01 COSM460782 c.517G>A p.V173I Substitution - Missense 3:48967254-48967254 + LC_C28 COSM1186288 c.736C>T p.R246* Substitution - Nonsense 3:48970670-48970670 + SNU-C4 COSM4653711 c.777G>A p.K259K Substitution - coding silent 3:48973705-48973705 + TCGA-CD-A4MG-01 COSM1045976 c.1171G>A p.E391K Substitution - Missense 3:48980410-48980410 + ESO-1670 COSM1245472 c.387+1G>A p.? Unknown 3:48964983-48964983 + TCGA-FS-A4FC-06 COSM3595139 c.1060C>T p.Q354* Substitution - Nonsense 3:48979580-48979580 + TCGA-BR-8680-01 COSM4118340 c.613G>T p.E205* Substitution - Nonsense 3:48968608-48968608 + ESCC_31 COSM5627885 c.1216G>A p.D406N Substitution - Missense 3:48980455-48980455 + TCGA-AZ-6600-01 COSM1423846 c.923G>T p.G308V Substitution - Missense 3:48974851-48974851 + TCGA-41-3392-01 COSM3408730 c.241G>T p.A81S Substitution - Missense 3:48927799-48927799 + YUGEMA COSM5399568 c.940-1G>T p.? Unknown 3:48974957-48974957 + T3174 COSM4663319 c.1388G>A p.R463H Substitution - Missense 3:48982957-48982957 + LIM1215 COSM4324942 c.1039C>T p.P347S Substitution - Missense 3:48979559-48979559 + CHC892T COSM4958695 c.1409G>A p.G470E Substitution - Missense 3:48982978-48982978 + TCGA-HJ-7597-01 COSM4118342 c.713G>A p.R238Q Substitution - Missense 3:48970647-48970647 + TCGA-AB-2840-03 COSM460782 c.517G>A p.V173I Substitution - Missense 3:48967254-48967254 + TCGA-F5-6814-01 COSM3427694 c.828G>C p.W276C Substitution - Missense 3:48973756-48973756 + 8058330 COSM3392450 c.712C>G p.R238G Substitution - Missense 3:48970646-48970646 + HCC126T COSM5818757 c.213T>C p.G71G Substitution - coding silent 3:48927771-48927771 + TCGA-GC-A3I6-01 COSM1309242 c.892C>T p.P298S Substitution - Missense 3:48974820-48974820 + H1155 COSM1195821 c.490T>G p.C164G Substitution - Missense 3:48967227-48967227 + TCGA-AG-A002-01 COSM259506 c.760G>A p.E254K Substitution - Missense 3:48970694-48970694 + pfg181T COSM3071193 c.73_75delGAA p.E29delE Deletion - In frame 3:48927631-48927633 + TCGA-39-5036-01 COSM731308 c.376C>G p.P126A Substitution - Missense 3:48964971-48964971 + TCGA-EB-A24D-01 COSM3595137 c.768C>T p.F256F Substitution - coding silent 3:48970702-48970702 + TCGA-EE-A20C-06 COSM3595135 c.570C>T p.L190L Substitution - coding silent 3:48968565-48968565 + HCT116 COSM1670184 c.883A>G p.K295E Substitution - Missense 3:48973811-48973811 + B68 COSM1753258 c.458C>G p.S153C Substitution - Missense 3:48967195-48967195 + PDA_074 COSM5002042 c.87A>C p.E29D Substitution - Missense 3:48927645-48927645 + TCGA-EE-A29C-06 COSM3595134 c.376C>T p.P126S Substitution - Missense 3:48964971-48964971 + TCGA-AA-A00N-01 COSM274044 c.834G>T p.T278T Substitution - coding silent 3:48973762-48973762 + 344634 COSM3726207 c.877C>T p.H293Y Substitution - Missense 3:48973805-48973805 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.633593;Hs.633599;Hs.633601 3p21 605615

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.R216G c.646A>G 3 49006074 STAD C A Synonymous p.L152L c.456C>A 3 49004626 CM C - Frameshift p.H222Ifs*106 c.664delC 3 49008031 CM C G CdsStopSNV . c.1479C>G 3 49020700 HNSC C G Missense p.P126A c.376C>G 3 49002404 LUSC C T IntronicSNV . c.1327-66C>T 3 49020263 CM C T Missense p.P126S c.376C>T 3 49002404 CM C T Missense p.P193L c.578C>T 3 49006006 CM C T Missense p.P298S c.892C>T 3 49012253 BLCA C T Missense p.R191C c.571C>T 3 49005999 CM C T Missense p.S113F c.338C>T 3 49002366 CM C T Missense p.S69F c.206C>T 3 48965197 CM C T Nonsense p.R147* c.439C>T 3 49004609 PRAD C T Synonymous p.F256F c.768C>T 3 49008135 CM C T Synonymous p.H265H c.795C>T 3 49011156 UCEC C T Synonymous p.L190L c.570C>T 3 49005998 CM C T Synonymous p.L214L c.642C>T 3 49006070 CM C T Synonymous p.L486L c.1456C>T 3 49020677 CM C T Synonymous p.P298P c.894C>T 3 49012255 OV - GAA MultiAAMissense p.E23delinsGK c.67_68insGAA 3 48965058 UCEC G A IntronicSNV . c.961+31G>A 3 49012443 CM G A SpliceDonorSNV . c.387+1G>A 3 49002416 ESCA G A SpliceDonorSNV . c.538+1G>A 3 49004709 CM G A Synonymous p.K148K c.444G>A 3 49004614 CM G A Synonymous p.R396R c.1188G>A 3 49017860 ESCA G T IntronicSNV . c.1-744G>T 3 48964248 HC G T Missense p.A81S c.241G>T 3 48965232 GBM G T Missense p.R211M c.632G>T 3 49006060 LUSC T C SpliceDonorSNV . c.538+2T>C 3 49004710 STAD