Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 185337191 185337191 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr3:185337191G>T c.1347G>T c.(1345-1347)ggG>ggT p.G449G BLCA 3 185329493 185329493 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:185329493A>C c.777A>C c.(775-777)caA>caC p.Q259H BRCA 3 185304285 185304285 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:185304285G>A c.84G>A c.(82-84)aaG>aaA p.K28K BRCA 3 185332508 185332508 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:185332508G>A c.1090G>A c.(1090-1092)Gat>Aat p.D364N BRCA 3 185337233 185337233 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:185337233C>G c.1389C>G c.(1387-1389)ctC>ctG p.L463L CESC 3 185329515 185329515 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr3:185329515C>G c.799C>G c.(799-801)Cag>Gag p.Q267E CESC 3 185344103 185344103 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:185344103G>C c.1629G>C c.(1627-1629)ctG>ctC p.L543L CHOL 3 185329428 185329449 + Splice_Site DEL GTGTTTCTAAGTTCTCAAAGAA GTGTTTCTAAGTTCTCAAAGAA - TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr3:185329428_185329449delGTGTTTCTAAGTTCTCAAAGAA c.722_733delGTGTTTCTAAGTTCTCAAAGAA c.(721-735)agtgtttctaagttc>atc p.SVSKF241fs COAD 3 185329480 185329480 + Frame_Shift_Del DEL G G - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:185329480delG c.764delG c.(763-765)tggfs p.W255fs COAD 3 185332395 185332395 + Missense_Mutation SNP C C T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr3:185332395C>T c.977C>T c.(976-978)tCg>tTg p.S326L COAD 3 185332508 185332508 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:185332508G>A c.1090G>A c.(1090-1092)Gat>Aat p.D364N COADREAD 3 185329480 185329480 + Frame_Shift_Del DEL G G - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:185329480delG c.764delG c.(763-765)tggfs p.W255fs COADREAD 3 185332395 185332395 + Missense_Mutation SNP C C T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr3:185332395C>T c.977C>T c.(976-978)tCg>tTg p.S326L COADREAD 3 185332452 185332452 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:185332452T>A c.1034T>A c.(1033-1035)aTa>aAa p.I345K COADREAD 3 185332508 185332508 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:185332508G>A c.1090G>A c.(1090-1092)Gat>Aat p.D364N ESCA 3 185304241 185304241 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr3:185304241C>A c.40C>A c.(40-42)Cgt>Agt p.R14S ESCA 3 185347597 185347597 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr3:185347597A>T c.1735A>T c.(1735-1737)Atg>Ttg p.M579L GBMLGG 3 185304249 185304249 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185304249C>T c.48C>T c.(46-48)tgC>tgT p.C16C GBMLGG 3 185316806 185316806 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr3:185316806A>G c.352A>G c.(352-354)Aaa>Gaa p.K118E GBMLGG 3 185318632 185318632 + Silent SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185318632G>C c.438G>C c.(436-438)ctG>ctC p.L146L GBMLGG 3 185327117 185327117 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185327117C>A c.701C>A c.(700-702)cCt>cAt p.P234H GBMLGG 3 185330425 185330425 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185330425G>A c.848G>A c.(847-849)tGt>tAt p.C283Y HNSC 3 185316239 185316239 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 g.chr3:185316239C>T c.197C>T c.(196-198)gCt>gTt p.A66V HNSC 3 185332487 185332487 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr3:185332487G>C c.1069G>C c.(1069-1071)Gag>Cag p.E357Q HNSC 3 185347618 185347618 + Nonsense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 g.chr3:185347618C>T c.1756C>T c.(1756-1758)Cag>Tag p.Q586* KIPAN 3 185341841 185341841 + Nonsense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr3:185341841G>T c.1582G>T c.(1582-1584)Gag>Tag p.E528* KIRP 3 185341841 185341841 + Nonsense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr3:185341841G>T c.1582G>T c.(1582-1584)Gag>Tag p.E528* LGG 3 185304249 185304249 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185304249C>T c.48C>T c.(46-48)tgC>tgT p.C16C LGG 3 185316806 185316806 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr3:185316806A>G c.352A>G c.(352-354)Aaa>Gaa p.K118E LGG 3 185318632 185318632 + Silent SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185318632G>C c.438G>C c.(436-438)ctG>ctC p.L146L LGG 3 185327117 185327117 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185327117C>A c.701C>A c.(700-702)cCt>cAt p.P234H LGG 3 185330425 185330425 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:185330425G>A c.848G>A c.(847-849)tGt>tAt p.C283Y LIHC 3 185316214 185316214 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:185316214C>A c.172C>A c.(172-174)Caa>Aaa p.Q58K LIHC 3 185318578 185318578 + Frame_Shift_Del DEL T T - TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr3:185318578delT c.384delT c.(382-384)agtfs p.S128fs LIHC 3 185332412 185332412 + Missense_Mutation SNP G G C TCGA-DD-A4NE-01A-11D-A27I-10 TCGA-DD-A4NE-11A-11D-A27I-10 g.chr3:185332412G>C c.994G>C c.(994-996)Ggc>Cgc p.G332R LUAD 3 185307917 185307917 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr3:185307917A>G c.117A>G c.(115-117)acA>acG p.T39T LUAD 3 185329518 185329518 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr3:185329518T>C c.802T>C c.(802-804)Ttt>Ctt p.F268L LUAD 3 185332451 185332451 + Missense_Mutation SNP A A G TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr3:185332451A>G c.1033A>G c.(1033-1035)Ata>Gta p.I345V LUAD 3 185332511 185332511 + Missense_Mutation SNP C C T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr3:185332511C>T c.1093C>T c.(1093-1095)Ctc>Ttc p.L365F LUAD 3 185341817 185341817 + Nonsense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr3:185341817A>T c.1558A>T c.(1558-1560)Aga>Tga p.R520* LUAD 3 185347571 185347571 + Splice_Site SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr3:185347571A>G c.1709A>G c.(1708-1710)cAc>cGc p.H570R LUAD 3 185347616 185347616 + Missense_Mutation SNP A A T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr3:185347616A>T c.1754A>T c.(1753-1755)cAt>cTt p.H585L LUSC 3 185316246 185316246 + Silent SNP C C T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr3:185316246C>T c.204C>T c.(202-204)agC>agT p.S68S LUSC 3 185316310 185316310 + Missense_Mutation SNP C C T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr3:185316310C>T c.268C>T c.(268-270)Cgg>Tgg p.R90W LUSC 3 185316794 185316794 + Missense_Mutation SNP A A G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr3:185316794A>G c.340A>G c.(340-342)Aac>Gac p.N114D LUSC 3 185337233 185337233 + Silent SNP C C G TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr3:185337233C>G c.1389C>G c.(1387-1389)ctC>ctG p.L463L LUSC 3 185347593 185347593 + Missense_Mutation SNP G G C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr3:185347593G>C c.1731G>C c.(1729-1731)aaG>aaC p.K577N OV 3 185324264 185324264 + Missense_Mutation SNP G G A TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 g.chr3:185324264G>A c.596G>A c.(595-597)cGt>cAt p.R199H PAAD 3 185304209 185304209 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:185304209G>A c.8G>A c.(7-9)aGa>aAa p.R3K READ 3 185332452 185332452 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:185332452T>A c.1034T>A c.(1033-1035)aTa>aAa p.I345K SARC 3 185316763 185316763 + Silent SNP A A T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 g.chr3:185316763A>T c.309A>T c.(307-309)tcA>tcT p.S103S SKCM 3 185307940 185307940 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:185307940C>T c.140C>T c.(139-141)gCc>gTc p.A47V SKCM 3 185307941 185307941 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:185307941C>T c.141C>T c.(139-141)gcC>gcT p.A47A SKCM 3 185316753 185316753 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr3:185316753C>T c.299C>T c.(298-300)tCg>tTg p.S100L SKCM 3 185318607 185318607 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:185318607C>T c.413C>T c.(412-414)aCc>aTc p.T138I SKCM 3 185330413 185330413 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr3:185330413G>A c.836G>A c.(835-837)aGg>aAg p.R279K SKCM 3 185330417 185330417 + Silent SNP A A C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:185330417A>C c.840A>C c.(838-840)ggA>ggC p.G280G SKCM 3 185332406 185332406 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:185332406C>T c.988C>T c.(988-990)Cgc>Tgc p.R330C SKCM 3 185337174 185337174 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr3:185337174C>T c.1330C>T c.(1330-1332)Cct>Tct p.P444S SKCM 3 185337194 185337194 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr3:185337194T>C c.1350T>C c.(1348-1350)ggT>ggC p.G450G SKCM 3 185339666 185339666 + Missense_Mutation SNP A A G TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 g.chr3:185339666A>G c.1499A>G c.(1498-1500)aAg>aGg p.K500R SKCM 3 185341799 185341799 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:185341799G>A c.1540G>A c.(1540-1542)Gat>Aat p.D514N SKCM 3 185341841 185341841 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:185341841G>A c.1582G>A c.(1582-1584)Gag>Aag p.E528K

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 185347594 185347594 single base substitution A G 3_prime_UTR_variant ALL-US 3 185347594 185347594 single base substitution A G downstream_gene_variant ALL-US 3 185347594 185347594 single base substitution A G missense_variant K402E 1204A>G ALL-US 3 185347594 185347594 single base substitution A G missense_variant K568E 1702A>G ALL-US 3 185347594 185347594 single base substitution A G missense_variant K578E 1732A>G BLCA-CN 3 185331161 185331161 single base substitution G A 3_prime_UTR_variant BLCA-CN 3 185331161 185331161 single base substitution G A downstream_gene_variant BLCA-CN 3 185331161 185331161 single base substitution G A exon_variant BLCA-CN 3 185331161 185331161 single base substitution G A missense_variant E124K 370G>A BLCA-CN 3 185331161 185331161 single base substitution G A missense_variant E290K 868G>A BLCA-CN 3 185331161 185331161 single base substitution G A missense_variant E300K 898G>A BLCA-CN 3 185331161 185331161 single base substitution G A missense_variant E7K 19G>A BLCA-CN 3 185331161 185331161 single base substitution G A upstream_gene_variant BLCA-CN 3 185337233 185337233 single base substitution C A 3_prime_UTR_variant BLCA-CN 3 185337233 185337233 single base substitution C A downstream_gene_variant BLCA-CN 3 185337233 185337233 single base substitution C A exon_variant BLCA-CN 3 185337233 185337233 single base substitution C A synonymous_variant L126L 378C>A BLCA-CN 3 185337233 185337233 single base substitution C A synonymous_variant L287L 861C>A BLCA-CN 3 185337233 185337233 single base substitution C A synonymous_variant L453L 1359C>A BLCA-CN 3 185337233 185337233 single base substitution C A synonymous_variant L463L 1389C>A BRCA-EU 3 185298916 185298916 single base substitution G A upstream_gene_variant BRCA-EU 3 185299291 185299291 single base substitution C A upstream_gene_variant BRCA-EU 3 185299742 185299742 single base substitution G T upstream_gene_variant BRCA-EU 3 185300239 185300239 single base substitution G A upstream_gene_variant BRCA-EU 3 185300498 185300498 single base substitution G A synonymous_variant G52G 156G>A BRCA-EU 3 185300498 185300498 single base substitution G A upstream_gene_variant BRCA-EU 3 185300536 185300536 single base substitution T A missense_variant M65K 194T>A BRCA-EU 3 185300536 185300536 single base substitution T A start_lost M1K 2T>A BRCA-EU 3 185300536 185300536 single base substitution T A upstream_gene_variant BRCA-EU 3 185301065 185301065 single base substitution T A intron_variant BRCA-EU 3 185301065 185301065 single base substitution T A upstream_gene_variant BRCA-EU 3 185301083 185301083 deletion of <=200bp T - intron_variant BRCA-EU 3 185301083 185301083 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 185301324 185301324 single base substitution G A intron_variant BRCA-EU 3 185301324 185301324 single base substitution G A upstream_gene_variant BRCA-EU 3 185301736 185301736 single base substitution G A intron_variant BRCA-EU 3 185301736 185301736 single base substitution G A upstream_gene_variant BRCA-EU 3 185302966 185302966 single base substitution G A intron_variant BRCA-EU 3 185302966 185302966 single base substitution G A upstream_gene_variant BRCA-EU 3 185303116 185303116 single base substitution C T intron_variant BRCA-EU 3 185303116 185303116 single base substitution C T upstream_gene_variant BRCA-EU 3 185303391 185303391 single base substitution A G intron_variant BRCA-EU 3 185303391 185303391 single base substitution A G upstream_gene_variant BRCA-EU 3 185305717 185305717 single base substitution C T intron_variant BRCA-EU 3 185307078 185307078 deletion of <=200bp T - intron_variant BRCA-EU 3 185307264 185307264 single base substitution T C intron_variant BRCA-EU 3 185307400 185307400 single base substitution T C intron_variant BRCA-EU 3 185309053 185309053 single base substitution G T intron_variant BRCA-EU 3 185311438 185311438 single base substitution C G intron_variant BRCA-EU 3 185311577 185311577 single base substitution T C intron_variant BRCA-EU 3 185311837 185311837 single base substitution G A intron_variant BRCA-EU 3 185311837 185311837 single base substitution G A upstream_gene_variant BRCA-EU 3 185311965 185311965 insertion of <=200bp - C intron_variant BRCA-EU 3 185311965 185311965 insertion of <=200bp - C upstream_gene_variant BRCA-EU 3 185312861 185312861 single base substitution C G intron_variant BRCA-EU 3 185312861 185312861 single base substitution C G upstream_gene_variant BRCA-EU 3 185313232 185313232 single base substitution T G intron_variant BRCA-EU 3 185313232 185313232 single base substitution T G upstream_gene_variant BRCA-EU 3 185316684 185316684 single base substitution A T intron_variant BRCA-EU 3 185316684 185316684 single base substitution A T upstream_gene_variant BRCA-EU 3 185316953 185316953 single base substitution G A intron_variant BRCA-EU 3 185317338 185317338 single base substitution T G intron_variant BRCA-EU 3 185317856 185317856 single base substitution A G intron_variant BRCA-EU 3 185319982 185319982 single base substitution T G downstream_gene_variant BRCA-EU 3 185319982 185319982 single base substitution T G intron_variant BRCA-EU 3 185320500 185320500 single base substitution T C downstream_gene_variant BRCA-EU 3 185320500 185320500 single base substitution T C intron_variant BRCA-EU 3 185323959 185323959 single base substitution T C intron_variant BRCA-EU 3 185323959 185323959 single base substitution T C upstream_gene_variant BRCA-EU 3 185324276 185324276 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 185324276 185324276 single base substitution C T exon_variant BRCA-EU 3 185324276 185324276 single base substitution C T missense_variant T193I 578C>T BRCA-EU 3 185324276 185324276 single base substitution C T missense_variant T203I 608C>T BRCA-EU 3 185324276 185324276 single base substitution C T missense_variant T257I 770C>T BRCA-EU 3 185324276 185324276 single base substitution C T missense_variant T27I 80C>T BRCA-EU 3 185324276 185324276 single base substitution C T upstream_gene_variant BRCA-EU 3 185324517 185324517 single base substitution T A downstream_gene_variant BRCA-EU 3 185324517 185324517 single base substitution T A intron_variant BRCA-EU 3 185324517 185324517 single base substitution T A upstream_gene_variant BRCA-EU 3 185324834 185324834 single base substitution G A downstream_gene_variant BRCA-EU 3 185324834 185324834 single base substitution G A intron_variant BRCA-EU 3 185324834 185324834 single base substitution G A upstream_gene_variant BRCA-EU 3 185325030 185325030 single base substitution T C downstream_gene_variant BRCA-EU 3 185325030 185325030 single base substitution T C intron_variant BRCA-EU 3 185325030 185325030 single base substitution T C upstream_gene_variant BRCA-EU 3 185325233 185325233 single base substitution C G downstream_gene_variant BRCA-EU 3 185325233 185325233 single base substitution C G intron_variant BRCA-EU 3 185325233 185325233 single base substitution C G upstream_gene_variant BRCA-EU 3 185325482 185325482 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 185325482 185325482 deletion of <=200bp T - intron_variant BRCA-EU 3 185325482 185325482 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 185325877 185325877 single base substitution A G downstream_gene_variant BRCA-EU 3 185325877 185325877 single base substitution A G intron_variant BRCA-EU 3 185325877 185325877 single base substitution A G upstream_gene_variant BRCA-EU 3 185327437 185327437 single base substitution C G downstream_gene_variant BRCA-EU 3 185327437 185327437 single base substitution C G intron_variant BRCA-EU 3 185327437 185327437 single base substitution C G upstream_gene_variant BRCA-EU 3 185328656 185328656 single base substitution G C downstream_gene_variant BRCA-EU 3 185328656 185328656 single base substitution G C intron_variant BRCA-EU 3 185328656 185328656 single base substitution G C upstream_gene_variant BRCA-EU 3 185330227 185330227 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 185330227 185330227 deletion of <=200bp T - exon_variant BRCA-EU 3 185330227 185330227 deletion of <=200bp T - intron_variant BRCA-EU 3 185330227 185330227 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 185330353 185330353 single base substitution C T downstream_gene_variant BRCA-EU 3 185330353 185330353 single base substitution C T exon_variant BRCA-EU 3 185330353 185330353 single base substitution C T intron_variant BRCA-EU 3 185330353 185330353 single base substitution C T upstream_gene_variant BRCA-EU 3 185334360 185334360 single base substitution G T downstream_gene_variant BRCA-EU 3 185334360 185334360 single base substitution G T intron_variant BRCA-EU 3 185335230 185335230 single base substitution C T downstream_gene_variant BRCA-EU 3 185335230 185335230 single base substitution C T intron_variant BRCA-EU 3 185335472 185335472 single base substitution C T downstream_gene_variant BRCA-EU 3 185335472 185335472 single base substitution C T intron_variant BRCA-EU 3 185335998 185335998 single base substitution C T downstream_gene_variant BRCA-EU 3 185335998 185335998 single base substitution C T intron_variant BRCA-EU 3 185337854 185337854 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 185337854 185337854 deletion of <=200bp A - intron_variant BRCA-EU 3 185337954 185337954 single base substitution G C downstream_gene_variant BRCA-EU 3 185337954 185337954 single base substitution G C intron_variant BRCA-EU 3 185338276 185338276 single base substitution G A downstream_gene_variant BRCA-EU 3 185338276 185338276 single base substitution G A intron_variant BRCA-EU 3 185338600 185338600 single base substitution G A downstream_gene_variant BRCA-EU 3 185338600 185338600 single base substitution G A intron_variant BRCA-EU 3 185339040 185339040 single base substitution A T downstream_gene_variant BRCA-EU 3 185339040 185339040 single base substitution A T intron_variant BRCA-EU 3 185341790 185341790 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 185341790 185341790 single base substitution T C downstream_gene_variant BRCA-EU 3 185341790 185341790 single base substitution T C missense_variant Y174H 520T>C BRCA-EU 3 185341790 185341790 single base substitution T C missense_variant Y335H 1003T>C BRCA-EU 3 185341790 185341790 single base substitution T C missense_variant Y501H 1501T>C BRCA-EU 3 185341790 185341790 single base substitution T C missense_variant Y511H 1531T>C BRCA-EU 3 185344451 185344451 single base substitution C T downstream_gene_variant BRCA-EU 3 185344451 185344451 single base substitution C T intron_variant BRCA-EU 3 185344773 185344773 single base substitution A G downstream_gene_variant BRCA-EU 3 185344773 185344773 single base substitution A G intron_variant BRCA-EU 3 185346522 185346522 single base substitution G A downstream_gene_variant BRCA-EU 3 185346522 185346522 single base substitution G A intron_variant BRCA-EU 3 185347270 185347270 single base substitution G C downstream_gene_variant BRCA-EU 3 185347270 185347270 single base substitution G C intron_variant BRCA-EU 3 185347337 185347337 single base substitution C G downstream_gene_variant BRCA-EU 3 185347337 185347337 single base substitution C G intron_variant BRCA-EU 3 185348044 185348044 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 185348044 185348044 single base substitution T G downstream_gene_variant BRCA-EU 3 185351695 185351695 single base substitution C G downstream_gene_variant BRCA-EU 3 185352760 185352760 single base substitution A G downstream_gene_variant BRCA-FR 3 185303116 185303116 single base substitution C T intron_variant BRCA-FR 3 185303116 185303116 single base substitution C T upstream_gene_variant BRCA-FR 3 185315996 185315996 single base substitution G T intron_variant BRCA-FR 3 185315996 185315996 single base substitution G T upstream_gene_variant BRCA-KR 3 185344102 185344102 single base substitution T C 3_prime_UTR_variant BRCA-KR 3 185344102 185344102 single base substitution T C downstream_gene_variant BRCA-KR 3 185344102 185344102 single base substitution T C missense_variant L367P 1100T>C BRCA-KR 3 185344102 185344102 single base substitution T C missense_variant L533P 1598T>C BRCA-KR 3 185344102 185344102 single base substitution T C missense_variant L543P 1628T>C BRCA-UK 3 185301065 185301065 single base substitution T A intron_variant BRCA-UK 3 185301065 185301065 single base substitution T A upstream_gene_variant BRCA-UK 3 185316953 185316953 single base substitution G A intron_variant BRCA-UK 3 185325791 185325791 single base substitution C T downstream_gene_variant BRCA-UK 3 185325791 185325791 single base substitution C T intron_variant BRCA-UK 3 185325791 185325791 single base substitution C T upstream_gene_variant BRCA-UK 3 185344773 185344773 single base substitution A G downstream_gene_variant BRCA-UK 3 185344773 185344773 single base substitution A G intron_variant BRCA-UK 3 185350558 185350558 single base substitution C G 3_prime_UTR_variant BRCA-UK 3 185350558 185350558 single base substitution C G downstream_gene_variant BRCA-US 3 185304285 185304285 single base substitution G A 5_prime_UTR_variant BRCA-US 3 185304285 185304285 single base substitution G A exon_variant BRCA-US 3 185304285 185304285 single base substitution G A intron_variant BRCA-US 3 185304285 185304285 single base substitution G A synonymous_variant K28K 84G>A BRCA-US 3 185332508 185332508 single base substitution G A 3_prime_UTR_variant BRCA-US 3 185332508 185332508 single base substitution G A downstream_gene_variant BRCA-US 3 185332508 185332508 single base substitution G A exon_variant BRCA-US 3 185332508 185332508 single base substitution G A missense_variant D188N 562G>A BRCA-US 3 185332508 185332508 single base substitution G A missense_variant D354N 1060G>A BRCA-US 3 185332508 185332508 single base substitution G A missense_variant D364N 1090G>A BRCA-US 3 185332508 185332508 single base substitution G A missense_variant D71N 211G>A BRCA-US 3 185337233 185337233 single base substitution C G 3_prime_UTR_variant BRCA-US 3 185337233 185337233 single base substitution C G downstream_gene_variant BRCA-US 3 185337233 185337233 single base substitution C G exon_variant BRCA-US 3 185337233 185337233 single base substitution C G synonymous_variant L126L 378C>G BRCA-US 3 185337233 185337233 single base substitution C G synonymous_variant L287L 861C>G BRCA-US 3 185337233 185337233 single base substitution C G synonymous_variant L453L 1359C>G BRCA-US 3 185337233 185337233 single base substitution C G synonymous_variant L463L 1389C>G BTCA-JP 3 185300546 185300546 single base substitution C G missense_variant H4Q 12C>G BTCA-JP 3 185300546 185300546 single base substitution C G missense_variant H68Q 204C>G BTCA-JP 3 185300546 185300546 single base substitution C G upstream_gene_variant BTCA-JP 3 185304257 185304257 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 3 185304257 185304257 single base substitution C T exon_variant BTCA-JP 3 185304257 185304257 single base substitution C T intron_variant BTCA-JP 3 185304257 185304257 single base substitution C T missense_variant S19L 56C>T BTCA-JP 3 185324313 185324313 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 185324313 185324313 deletion of <=200bp A - intron_variant BTCA-JP 3 185324313 185324313 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 185324319 185324319 single base substitution A T downstream_gene_variant BTCA-JP 3 185324319 185324319 single base substitution A T intron_variant BTCA-JP 3 185324319 185324319 single base substitution A T upstream_gene_variant BTCA-JP 3 185330423 185330423 single base substitution A G 3_prime_UTR_variant BTCA-JP 3 185330423 185330423 single base substitution A G downstream_gene_variant BTCA-JP 3 185330423 185330423 single base substitution A G exon_variant BTCA-JP 3 185330423 185330423 single base substitution A G synonymous_variant L106L 318A>G BTCA-JP 3 185330423 185330423 single base substitution A G synonymous_variant L272L 816A>G BTCA-JP 3 185330423 185330423 single base substitution A G synonymous_variant L282L 846A>G BTCA-JP 3 185330423 185330423 single base substitution A G upstream_gene_variant BTCA-JP 3 185330450 185330450 single base substitution C T downstream_gene_variant BTCA-JP 3 185330450 185330450 single base substitution C T intron_variant BTCA-JP 3 185330450 185330450 single base substitution C T splice_region_variant BTCA-JP 3 185330450 185330450 single base substitution C T upstream_gene_variant BTCA-JP 3 185331051 185331051 single base substitution C T downstream_gene_variant BTCA-JP 3 185331051 185331051 single base substitution C T intron_variant BTCA-JP 3 185331051 185331051 single base substitution C T upstream_gene_variant BTCA-JP 3 185331119 185331119 single base substitution A T downstream_gene_variant BTCA-JP 3 185331119 185331119 single base substitution A T intron_variant BTCA-JP 3 185331119 185331119 single base substitution A T upstream_gene_variant BTCA-JP 3 185339524 185339524 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 185339524 185339524 deletion of <=200bp T - intron_variant CESC-US 3 185329515 185329515 single base substitution C G 3_prime_UTR_variant CESC-US 3 185329515 185329515 single base substitution C G downstream_gene_variant CESC-US 3 185329515 185329515 single base substitution C G exon_variant CESC-US 3 185329515 185329515 single base substitution C G missense_variant Q257E 769C>G CESC-US 3 185329515 185329515 single base substitution C G missense_variant Q267E 799C>G CESC-US 3 185329515 185329515 single base substitution C G missense_variant Q91E 271C>G CESC-US 3 185329515 185329515 single base substitution C G upstream_gene_variant CESC-US 3 185344103 185344103 single base substitution G C 3_prime_UTR_variant CESC-US 3 185344103 185344103 single base substitution G C downstream_gene_variant CESC-US 3 185344103 185344103 single base substitution G C synonymous_variant L367L 1101G>C CESC-US 3 185344103 185344103 single base substitution G C synonymous_variant L533L 1599G>C CESC-US 3 185344103 185344103 single base substitution G C synonymous_variant L543L 1629G>C CLLE-ES 3 185307055 185307055 single base substitution G A intron_variant CLLE-ES 3 185313829 185313829 single base substitution C T intron_variant CLLE-ES 3 185313829 185313829 single base substitution C T upstream_gene_variant CLLE-ES 3 185323486 185323486 single base substitution T C downstream_gene_variant CLLE-ES 3 185323486 185323486 single base substitution T C intron_variant CLLE-ES 3 185323486 185323486 single base substitution T C upstream_gene_variant CLLE-ES 3 185337291 185337291 single base substitution G A downstream_gene_variant CLLE-ES 3 185337291 185337291 single base substitution G A exon_variant CLLE-ES 3 185337291 185337291 single base substitution G A splice_donor_variant COAD-US 3 185329480 185329480 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 3 185329480 185329480 deletion of <=200bp G - downstream_gene_variant COAD-US 3 185329480 185329480 deletion of <=200bp G - exon_variant COAD-US 3 185329480 185329480 deletion of <=200bp G - frameshift_variant W245 COAD-US 3 185329480 185329480 deletion of <=200bp G - frameshift_variant W255 COAD-US 3 185329480 185329480 deletion of <=200bp G - frameshift_variant W79 COAD-US 3 185329480 185329480 deletion of <=200bp G - upstream_gene_variant COAD-US 3 185331165 185331165 single base substitution C A 3_prime_UTR_variant COAD-US 3 185331165 185331165 single base substitution C A downstream_gene_variant COAD-US 3 185331165 185331165 single base substitution C A exon_variant COAD-US 3 185331165 185331165 single base substitution C A missense_variant T125K 374C>A COAD-US 3 185331165 185331165 single base substitution C A missense_variant T291K 872C>A COAD-US 3 185331165 185331165 single base substitution C A missense_variant T301K 902C>A COAD-US 3 185331165 185331165 single base substitution C A missense_variant T8K 23C>A COAD-US 3 185331165 185331165 single base substitution C A upstream_gene_variant COAD-US 3 185332395 185332395 single base substitution C T 3_prime_UTR_variant COAD-US 3 185332395 185332395 single base substitution C T downstream_gene_variant COAD-US 3 185332395 185332395 single base substitution C T exon_variant COAD-US 3 185332395 185332395 single base substitution C T missense_variant S150L 449C>T COAD-US 3 185332395 185332395 single base substitution C T missense_variant S316L 947C>T COAD-US 3 185332395 185332395 single base substitution C T missense_variant S326L 977C>T COAD-US 3 185332395 185332395 single base substitution C T missense_variant S33L 98C>T COCA-CN 3 185300342 185300342 single base substitution G A 5_prime_UTR_variant COCA-CN 3 185300342 185300342 single base substitution G A upstream_gene_variant COCA-CN 3 185316616 185316616 single base substitution G A intron_variant COCA-CN 3 185316616 185316616 single base substitution G A upstream_gene_variant COCA-CN 3 185316894 185316894 single base substitution A C intron_variant COCA-CN 3 185324316 185324316 single base substitution A C downstream_gene_variant COCA-CN 3 185324316 185324316 single base substitution A C intron_variant COCA-CN 3 185324316 185324316 single base substitution A C upstream_gene_variant COCA-CN 3 185330189 185330189 single base substitution A G downstream_gene_variant COCA-CN 3 185330189 185330189 single base substitution A G exon_variant COCA-CN 3 185330189 185330189 single base substitution A G intron_variant COCA-CN 3 185330189 185330189 single base substitution A G upstream_gene_variant COCA-CN 3 185330479 185330479 single base substitution T C downstream_gene_variant COCA-CN 3 185330479 185330479 single base substitution T C intron_variant COCA-CN 3 185330479 185330479 single base substitution T C upstream_gene_variant COCA-CN 3 185335436 185335436 single base substitution A C downstream_gene_variant COCA-CN 3 185335436 185335436 single base substitution A C intron_variant COCA-CN 3 185339174 185339174 single base substitution C T downstream_gene_variant COCA-CN 3 185339174 185339174 single base substitution C T intron_variant COCA-CN 3 185347417 185347417 single base substitution A C downstream_gene_variant COCA-CN 3 185347417 185347417 single base substitution A C intron_variant EOPC-DE 3 185299591 185299591 single base substitution A G upstream_gene_variant EOPC-DE 3 185313805 185313805 single base substitution G A intron_variant EOPC-DE 3 185313805 185313805 single base substitution G A upstream_gene_variant ESAD-UK 3 185295318 185295318 single base substitution C G upstream_gene_variant ESAD-UK 3 185295907 185295907 single base substitution C A upstream_gene_variant ESAD-UK 3 185295982 185295982 single base substitution G T upstream_gene_variant ESAD-UK 3 185296974 185296974 single base substitution T A upstream_gene_variant ESAD-UK 3 185297610 185297610 single base substitution G A upstream_gene_variant ESAD-UK 3 185299454 185299454 single base substitution C T upstream_gene_variant ESAD-UK 3 185301083 185301083 deletion of <=200bp T - intron_variant ESAD-UK 3 185301083 185301083 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 185301440 185301440 single base substitution C T intron_variant ESAD-UK 3 185301440 185301440 single base substitution C T upstream_gene_variant ESAD-UK 3 185301681 185301681 single base substitution T G intron_variant ESAD-UK 3 185301681 185301681 single base substitution T G upstream_gene_variant ESAD-UK 3 185303729 185303729 single base substitution T C intron_variant ESAD-UK 3 185303729 185303729 single base substitution T C upstream_gene_variant ESAD-UK 3 185304095 185304095 single base substitution C G 5_prime_UTR_variant ESAD-UK 3 185304095 185304095 single base substitution C G intron_variant ESAD-UK 3 185309697 185309697 deletion of <=200bp T - intron_variant ESAD-UK 3 185311355 185311355 single base substitution G A intron_variant ESAD-UK 3 185311963 185311963 insertion of <=200bp - C intron_variant ESAD-UK 3 185311963 185311963 insertion of <=200bp - C upstream_gene_variant ESAD-UK 3 185312476 185312476 single base substitution C T intron_variant ESAD-UK 3 185312476 185312476 single base substitution C T upstream_gene_variant ESAD-UK 3 185313649 185313649 single base substitution C T intron_variant ESAD-UK 3 185313649 185313649 single base substitution C T upstream_gene_variant ESAD-UK 3 185315319 185315319 single base substitution T C intron_variant ESAD-UK 3 185315319 185315319 single base substitution T C upstream_gene_variant ESAD-UK 3 185318582 185318582 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 185318582 185318582 single base substitution T C 5_prime_UTR_variant ESAD-UK 3 185318582 185318582 single base substitution T C exon_variant ESAD-UK 3 185318582 185318582 single base substitution T C missense_variant Y120H 358T>C ESAD-UK 3 185318582 185318582 single base substitution T C missense_variant Y130H 388T>C ESAD-UK 3 185318582 185318582 single base substitution T C missense_variant Y184H 550T>C ESAD-UK 3 185319924 185319924 single base substitution G C downstream_gene_variant ESAD-UK 3 185319924 185319924 single base substitution G C intron_variant ESAD-UK 3 185322604 185322604 single base substitution C T downstream_gene_variant ESAD-UK 3 185322604 185322604 single base substitution C T intron_variant ESAD-UK 3 185322604 185322604 single base substitution C T upstream_gene_variant ESAD-UK 3 185326689 185326689 single base substitution T G downstream_gene_variant ESAD-UK 3 185326689 185326689 single base substitution T G intron_variant ESAD-UK 3 185326689 185326689 single base substitution T G upstream_gene_variant ESAD-UK 3 185328893 185328893 single base substitution A G downstream_gene_variant ESAD-UK 3 185328893 185328893 single base substitution A G intron_variant ESAD-UK 3 185328893 185328893 single base substitution A G upstream_gene_variant ESAD-UK 3 185331866 185331866 single base substitution G A downstream_gene_variant ESAD-UK 3 185331866 185331866 single base substitution G A intron_variant ESAD-UK 3 185331866 185331866 single base substitution G A upstream_gene_variant ESAD-UK 3 185335332 185335332 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 185335332 185335332 single base substitution C T downstream_gene_variant ESAD-UK 3 185335332 185335332 single base substitution C T exon_variant ESAD-UK 3 185335332 185335332 single base substitution C T intron_variant ESAD-UK 3 185335332 185335332 single base substitution C T missense_variant A216V 647C>T ESAD-UK 3 185335332 185335332 single base substitution C T missense_variant A382V 1145C>T ESAD-UK 3 185335332 185335332 single base substitution C T missense_variant A392V 1175C>T ESAD-UK 3 185335472 185335472 single base substitution C T downstream_gene_variant ESAD-UK 3 185335472 185335472 single base substitution C T intron_variant ESAD-UK 3 185336021 185336021 single base substitution C T downstream_gene_variant ESAD-UK 3 185336021 185336021 single base substitution C T intron_variant ESAD-UK 3 185337787 185337787 single base substitution G A downstream_gene_variant ESAD-UK 3 185337787 185337787 single base substitution G A intron_variant ESAD-UK 3 185338401 185338401 single base substitution T G downstream_gene_variant ESAD-UK 3 185338401 185338401 single base substitution T G intron_variant ESAD-UK 3 185339972 185339972 single base substitution G A downstream_gene_variant ESAD-UK 3 185339972 185339972 single base substitution G A intron_variant ESAD-UK 3 185340314 185340316 deletion of <=200bp AAT - downstream_gene_variant ESAD-UK 3 185340314 185340316 deletion of <=200bp AAT - intron_variant ESAD-UK 3 185341152 185341152 single base substitution T C downstream_gene_variant ESAD-UK 3 185341152 185341152 single base substitution T C intron_variant ESAD-UK 3 185341517 185341517 single base substitution A C downstream_gene_variant ESAD-UK 3 185341517 185341517 single base substitution A C intron_variant ESAD-UK 3 185342431 185342431 single base substitution A C intron_variant ESAD-UK 3 185346478 185346478 single base substitution G C downstream_gene_variant ESAD-UK 3 185346478 185346478 single base substitution G C intron_variant ESAD-UK 3 185347347 185347347 single base substitution C T downstream_gene_variant ESAD-UK 3 185347347 185347347 single base substitution C T intron_variant ESAD-UK 3 185347576 185347576 single base substitution A T 3_prime_UTR_variant ESAD-UK 3 185347576 185347576 single base substitution A T downstream_gene_variant ESAD-UK 3 185347576 185347576 single base substitution A T missense_variant M396L 1186A>T ESAD-UK 3 185347576 185347576 single base substitution A T missense_variant M562L 1684A>T ESAD-UK 3 185347576 185347576 single base substitution A T missense_variant M572L 1714A>T ESAD-UK 3 185347892 185347892 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 3 185347892 185347892 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 185347962 185347962 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 185347962 185347962 single base substitution T C downstream_gene_variant ESAD-UK 3 185348843 185348843 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 185348843 185348843 single base substitution G A downstream_gene_variant ESCA-CN 3 185318621 185318621 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 185318621 185318621 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 3 185318621 185318621 single base substitution C T downstream_gene_variant ESCA-CN 3 185318621 185318621 single base substitution C T exon_variant ESCA-CN 3 185318621 185318621 single base substitution C T missense_variant R133C 397C>T ESCA-CN 3 185318621 185318621 single base substitution C T missense_variant R143C 427C>T ESCA-CN 3 185318621 185318621 single base substitution C T missense_variant R197C 589C>T LAML-KR 3 185300395 185300395 single base substitution G A missense_variant G18D 53G>A LAML-KR 3 185300395 185300395 single base substitution G A upstream_gene_variant LAML-KR 3 185305373 185305373 single base substitution G T intron_variant LAML-KR 3 185306122 185306122 single base substitution C A intron_variant LAML-KR 3 185335156 185335156 single base substitution T A downstream_gene_variant LAML-KR 3 185335156 185335156 single base substitution T A intron_variant LAML-KR 3 185339013 185339013 single base substitution G A downstream_gene_variant LAML-KR 3 185339013 185339013 single base substitution G A intron_variant LGG-US 3 185316806 185316806 single base substitution A G 3_prime_UTR_variant LGG-US 3 185316806 185316806 single base substitution A G exon_variant LGG-US 3 185316806 185316806 single base substitution A G intron_variant LGG-US 3 185316806 185316806 single base substitution A G missense_variant K108E 322A>G LGG-US 3 185316806 185316806 single base substitution A G missense_variant K118E 352A>G LGG-US 3 185316806 185316806 single base substitution A G missense_variant K172E 514A>G LICA-CN 3 185316215 185316215 single base substitution A T 3_prime_UTR_variant LICA-CN 3 185316215 185316215 single base substitution A T 5_prime_UTR_variant LICA-CN 3 185316215 185316215 single base substitution A T exon_variant LICA-CN 3 185316215 185316215 single base substitution A T intron_variant LICA-CN 3 185316215 185316215 single base substitution A T missense_variant Q112L 335A>T LICA-CN 3 185316215 185316215 single base substitution A T missense_variant Q48L 143A>T LICA-CN 3 185316215 185316215 single base substitution A T missense_variant Q58L 173A>T LICA-CN 3 185316215 185316215 single base substitution A T upstream_gene_variant LICA-FR 3 185295441 185295441 single base substitution G A upstream_gene_variant LICA-FR 3 185301925 185301925 single base substitution G C intron_variant LICA-FR 3 185301925 185301925 single base substitution G C upstream_gene_variant LICA-FR 3 185306154 185306154 single base substitution A G intron_variant LICA-FR 3 185311517 185311520 deletion of <=200bp TTTT - intron_variant LICA-FR 3 185341911 185341911 single base substitution T A downstream_gene_variant LICA-FR 3 185341911 185341911 single base substitution T A intron_variant LIHC-US 3 185316214 185316214 single base substitution C A 3_prime_UTR_variant LIHC-US 3 185316214 185316214 single base substitution C A 5_prime_UTR_variant LIHC-US 3 185316214 185316214 single base substitution C A exon_variant LIHC-US 3 185316214 185316214 single base substitution C A intron_variant LIHC-US 3 185316214 185316214 single base substitution C A missense_variant Q112K 334C>A LIHC-US 3 185316214 185316214 single base substitution C A missense_variant Q48K 142C>A LIHC-US 3 185316214 185316214 single base substitution C A missense_variant Q58K 172C>A LIHC-US 3 185316214 185316214 single base substitution C A upstream_gene_variant LIHC-US 3 185318579 185318579 single base substitution G A 3_prime_UTR_variant LIHC-US 3 185318579 185318579 single base substitution G A 5_prime_UTR_variant LIHC-US 3 185318579 185318579 single base substitution G A exon_variant LIHC-US 3 185318579 185318579 single base substitution G A missense_variant D119N 355G>A LIHC-US 3 185318579 185318579 single base substitution G A missense_variant D129N 385G>A LIHC-US 3 185318579 185318579 single base substitution G A missense_variant D183N 547G>A LIHC-US 3 185332412 185332412 single base substitution G C 3_prime_UTR_variant LIHC-US 3 185332412 185332412 single base substitution G C downstream_gene_variant LIHC-US 3 185332412 185332412 single base substitution G C exon_variant LIHC-US 3 185332412 185332412 single base substitution G C missense_variant G156R 466G>C LIHC-US 3 185332412 185332412 single base substitution G C missense_variant G322R 964G>C LIHC-US 3 185332412 185332412 single base substitution G C missense_variant G332R 994G>C LIHC-US 3 185332412 185332412 single base substitution G C missense_variant G39R 115G>C LINC-JP 3 185296638 185296638 single base substitution T A upstream_gene_variant LINC-JP 3 185300504 185300504 single base substitution G T synonymous_variant G54G 162G>T LINC-JP 3 185300504 185300504 single base substitution G T upstream_gene_variant LINC-JP 3 185312212 185312212 single base substitution G A intron_variant LINC-JP 3 185312212 185312212 single base substitution G A upstream_gene_variant LINC-JP 3 185316174 185316174 single base substitution A G intron_variant LINC-JP 3 185316174 185316174 single base substitution A G splice_region_variant LINC-JP 3 185316174 185316174 single base substitution A G upstream_gene_variant LINC-JP 3 185317601 185317601 single base substitution T C intron_variant LINC-JP 3 185332862 185332862 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 185332862 185332862 deletion of <=200bp T - intron_variant LINC-JP 3 185334718 185334718 single base substitution A G downstream_gene_variant LINC-JP 3 185334718 185334718 single base substitution A G intron_variant LINC-JP 3 185335199 185335199 single base substitution C T downstream_gene_variant LINC-JP 3 185335199 185335199 single base substitution C T intron_variant LINC-JP 3 185341833 185341833 single base substitution A G 3_prime_UTR_variant LINC-JP 3 185341833 185341833 single base substitution A G downstream_gene_variant LINC-JP 3 185341833 185341833 single base substitution A G missense_variant N188S 563A>G LINC-JP 3 185341833 185341833 single base substitution A G missense_variant N349S 1046A>G LINC-JP 3 185341833 185341833 single base substitution A G missense_variant N515S 1544A>G LINC-JP 3 185341833 185341833 single base substitution A G missense_variant N525S 1574A>G LINC-JP 3 185354580 185354580 single base substitution A G downstream_gene_variant LINC-JP 3 185355025 185355025 insertion of <=200bp - GGAGCAAAG downstream_gene_variant LIRI-JP 3 185296136 185296136 single base substitution G A upstream_gene_variant LIRI-JP 3 185299383 185299383 single base substitution G T upstream_gene_variant LIRI-JP 3 185299787 185299787 single base substitution G A upstream_gene_variant LIRI-JP 3 185301062 185301062 single base substitution T C intron_variant LIRI-JP 3 185301062 185301062 single base substitution T C upstream_gene_variant LIRI-JP 3 185301967 185301967 single base substitution G T intron_variant LIRI-JP 3 185301967 185301967 single base substitution G T upstream_gene_variant LIRI-JP 3 185302544 185302544 single base substitution G T intron_variant LIRI-JP 3 185302544 185302544 single base substitution G T upstream_gene_variant LIRI-JP 3 185304567 185304567 single base substitution G T intron_variant LIRI-JP 3 185305221 185305221 single base substitution C T intron_variant LIRI-JP 3 185310699 185310699 single base substitution C G intron_variant LIRI-JP 3 185312060 185312060 single base substitution A T intron_variant LIRI-JP 3 185312060 185312060 single base substitution A T upstream_gene_variant LIRI-JP 3 185316510 185316510 single base substitution A C intron_variant LIRI-JP 3 185316510 185316510 single base substitution A C upstream_gene_variant LIRI-JP 3 185316728 185316728 single base substitution A G intron_variant LIRI-JP 3 185316728 185316728 single base substitution A G upstream_gene_variant LIRI-JP 3 185317439 185317439 single base substitution A T intron_variant LIRI-JP 3 185317877 185317877 single base substitution G A intron_variant LIRI-JP 3 185318141 185318141 single base substitution T G intron_variant LIRI-JP 3 185318733 185318733 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 185318733 185318733 deletion of <=200bp A - intron_variant LIRI-JP 3 185321428 185321428 single base substitution C T downstream_gene_variant LIRI-JP 3 185321428 185321428 single base substitution C T intron_variant LIRI-JP 3 185323023 185323023 single base substitution G T downstream_gene_variant LIRI-JP 3 185323023 185323023 single base substitution G T intron_variant LIRI-JP 3 185323023 185323023 single base substitution G T upstream_gene_variant LIRI-JP 3 185323846 185323846 single base substitution A G intron_variant LIRI-JP 3 185323846 185323846 single base substitution A G upstream_gene_variant LIRI-JP 3 185325265 185325265 single base substitution T C downstream_gene_variant LIRI-JP 3 185325265 185325265 single base substitution T C intron_variant LIRI-JP 3 185325265 185325265 single base substitution T C upstream_gene_variant LIRI-JP 3 185329202 185329202 single base substitution C A downstream_gene_variant LIRI-JP 3 185329202 185329202 single base substitution C A intron_variant LIRI-JP 3 185329202 185329202 single base substitution C A upstream_gene_variant LIRI-JP 3 185329239 185329239 single base substitution G T downstream_gene_variant LIRI-JP 3 185329239 185329239 single base substitution G T intron_variant LIRI-JP 3 185329239 185329239 single base substitution G T upstream_gene_variant LIRI-JP 3 185329484 185329484 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 185329484 185329484 single base substitution G A downstream_gene_variant LIRI-JP 3 185329484 185329484 single base substitution G A exon_variant LIRI-JP 3 185329484 185329484 single base substitution G A synonymous_variant G246G 738G>A LIRI-JP 3 185329484 185329484 single base substitution G A synonymous_variant G256G 768G>A LIRI-JP 3 185329484 185329484 single base substitution G A synonymous_variant G80G 240G>A LIRI-JP 3 185329484 185329484 single base substitution G A upstream_gene_variant LIRI-JP 3 185329650 185329650 single base substitution T G downstream_gene_variant LIRI-JP 3 185329650 185329650 single base substitution T G intron_variant LIRI-JP 3 185329650 185329650 single base substitution T G upstream_gene_variant LIRI-JP 3 185330416 185330416 single base substitution G C 3_prime_UTR_variant LIRI-JP 3 185330416 185330416 single base substitution G C downstream_gene_variant LIRI-JP 3 185330416 185330416 single base substitution G C exon_variant LIRI-JP 3 185330416 185330416 single base substitution G C missense_variant G104A 311G>C LIRI-JP 3 185330416 185330416 single base substitution G C missense_variant G270A 809G>C LIRI-JP 3 185330416 185330416 single base substitution G C missense_variant G280A 839G>C LIRI-JP 3 185330416 185330416 single base substitution G C upstream_gene_variant LIRI-JP 3 185330490 185330490 single base substitution T A downstream_gene_variant LIRI-JP 3 185330490 185330490 single base substitution T A intron_variant LIRI-JP 3 185330490 185330490 single base substitution T A upstream_gene_variant LIRI-JP 3 185332012 185332012 deletion of <=200bp G - downstream_gene_variant LIRI-JP 3 185332012 185332012 deletion of <=200bp G - intron_variant LIRI-JP 3 185332012 185332012 deletion of <=200bp G - upstream_gene_variant LIRI-JP 3 185332406 185332406 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 185332406 185332406 single base substitution C T downstream_gene_variant LIRI-JP 3 185332406 185332406 single base substitution C T exon_variant LIRI-JP 3 185332406 185332406 single base substitution C T missense_variant R154C 460C>T LIRI-JP 3 185332406 185332406 single base substitution C T missense_variant R320C 958C>T LIRI-JP 3 185332406 185332406 single base substitution C T missense_variant R330C 988C>T LIRI-JP 3 185332406 185332406 single base substitution C T missense_variant R37C 109C>T LIRI-JP 3 185332574 185332574 single base substitution A T downstream_gene_variant LIRI-JP 3 185332574 185332574 single base substitution A T intron_variant LIRI-JP 3 185332672 185332672 single base substitution A G downstream_gene_variant LIRI-JP 3 185332672 185332672 single base substitution A G intron_variant LIRI-JP 3 185333297 185333297 single base substitution A C downstream_gene_variant LIRI-JP 3 185333297 185333297 single base substitution A C intron_variant LIRI-JP 3 185334642 185334642 single base substitution A T downstream_gene_variant LIRI-JP 3 185334642 185334642 single base substitution A T intron_variant LIRI-JP 3 185334680 185334680 single base substitution A G downstream_gene_variant LIRI-JP 3 185334680 185334680 single base substitution A G intron_variant LIRI-JP 3 185336072 185336072 single base substitution A G downstream_gene_variant LIRI-JP 3 185336072 185336072 single base substitution A G intron_variant LIRI-JP 3 185336819 185336819 single base substitution A G downstream_gene_variant LIRI-JP 3 185336819 185336819 single base substitution A G intron_variant LIRI-JP 3 185338321 185338321 single base substitution C A downstream_gene_variant LIRI-JP 3 185338321 185338321 single base substitution C A intron_variant LIRI-JP 3 185341115 185341115 single base substitution A G downstream_gene_variant LIRI-JP 3 185341115 185341115 single base substitution A G intron_variant LIRI-JP 3 185344233 185344233 single base substitution A G downstream_gene_variant LIRI-JP 3 185344233 185344233 single base substitution A G intron_variant LIRI-JP 3 185344434 185344434 single base substitution G A downstream_gene_variant LIRI-JP 3 185344434 185344434 single base substitution G A intron_variant LIRI-JP 3 185344580 185344580 single base substitution A G downstream_gene_variant LIRI-JP 3 185344580 185344580 single base substitution A G intron_variant LIRI-JP 3 185346528 185346528 single base substitution A G downstream_gene_variant LIRI-JP 3 185346528 185346528 single base substitution A G intron_variant LIRI-JP 3 185346677 185346677 insertion of <=200bp - A downstream_gene_variant LIRI-JP 3 185346677 185346677 insertion of <=200bp - A intron_variant LIRI-JP 3 185347883 185347883 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 185347883 185347883 single base substitution T C downstream_gene_variant LIRI-JP 3 185348892 185348892 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 185348892 185348892 single base substitution A G downstream_gene_variant LIRI-JP 3 185349447 185349447 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 185349447 185349447 single base substitution A T downstream_gene_variant LIRI-JP 3 185349979 185349979 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 185349979 185349979 single base substitution A T downstream_gene_variant LIRI-JP 3 185350658 185350658 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 185350658 185350658 single base substitution A G downstream_gene_variant LIRI-JP 3 185350719 185350719 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 185350719 185350719 single base substitution A T downstream_gene_variant LIRI-JP 3 185352921 185352921 single base substitution A G downstream_gene_variant LIRI-JP 3 185353864 185353864 single base substitution A G downstream_gene_variant LUSC-KR 3 185298710 185298710 single base substitution C T upstream_gene_variant LUSC-KR 3 185300068 185300068 single base substitution A T upstream_gene_variant LUSC-KR 3 185300328 185300328 single base substitution G T 5_prime_UTR_variant LUSC-KR 3 185300328 185300328 single base substitution G T upstream_gene_variant LUSC-KR 3 185302204 185302204 single base substitution C G intron_variant LUSC-KR 3 185302204 185302204 single base substitution C G upstream_gene_variant LUSC-KR 3 185303679 185303679 single base substitution T G intron_variant LUSC-KR 3 185303679 185303679 single base substitution T G upstream_gene_variant LUSC-KR 3 185306652 185306652 single base substitution T C intron_variant LUSC-KR 3 185306691 185306691 single base substitution T C intron_variant LUSC-KR 3 185306946 185306946 single base substitution C G intron_variant LUSC-KR 3 185308703 185308703 single base substitution T C intron_variant LUSC-KR 3 185310423 185310423 single base substitution G T intron_variant LUSC-KR 3 185311528 185311528 single base substitution T G intron_variant LUSC-KR 3 185314892 185314892 single base substitution G A intron_variant LUSC-KR 3 185314892 185314892 single base substitution G A upstream_gene_variant LUSC-KR 3 185315299 185315299 single base substitution C G intron_variant LUSC-KR 3 185315299 185315299 single base substitution C G upstream_gene_variant LUSC-KR 3 185316123 185316123 single base substitution G A intron_variant LUSC-KR 3 185316123 185316123 single base substitution G A upstream_gene_variant LUSC-KR 3 185323294 185323294 single base substitution A G downstream_gene_variant LUSC-KR 3 185323294 185323294 single base substitution A G intron_variant LUSC-KR 3 185323294 185323294 single base substitution A G upstream_gene_variant LUSC-KR 3 185323466 185323466 single base substitution G T downstream_gene_variant LUSC-KR 3 185323466 185323466 single base substitution G T intron_variant LUSC-KR 3 185323466 185323466 single base substitution G T upstream_gene_variant LUSC-KR 3 185325093 185325093 single base substitution G C downstream_gene_variant LUSC-KR 3 185325093 185325093 single base substitution G C intron_variant LUSC-KR 3 185325093 185325093 single base substitution G C upstream_gene_variant LUSC-KR 3 185325134 185325134 single base substitution G T downstream_gene_variant LUSC-KR 3 185325134 185325134 single base substitution G T intron_variant LUSC-KR 3 185325134 185325134 single base substitution G T upstream_gene_variant LUSC-KR 3 185325776 185325776 single base substitution G C downstream_gene_variant LUSC-KR 3 185325776 185325776 single base substitution G C intron_variant LUSC-KR 3 185325776 185325776 single base substitution G C upstream_gene_variant LUSC-KR 3 185326243 185326243 single base substitution G C downstream_gene_variant LUSC-KR 3 185326243 185326243 single base substitution G C intron_variant LUSC-KR 3 185326243 185326243 single base substitution G C upstream_gene_variant LUSC-KR 3 185326350 185326350 single base substitution G C downstream_gene_variant LUSC-KR 3 185326350 185326350 single base substitution G C intron_variant LUSC-KR 3 185326350 185326350 single base substitution G C upstream_gene_variant LUSC-KR 3 185326418 185326418 single base substitution G C downstream_gene_variant LUSC-KR 3 185326418 185326418 single base substitution G C intron_variant LUSC-KR 3 185326418 185326418 single base substitution G C upstream_gene_variant LUSC-KR 3 185326566 185326566 single base substitution G A downstream_gene_variant LUSC-KR 3 185326566 185326566 single base substitution G A intron_variant LUSC-KR 3 185326566 185326566 single base substitution G A upstream_gene_variant LUSC-KR 3 185327833 185327833 single base substitution G T downstream_gene_variant LUSC-KR 3 185327833 185327833 single base substitution G T intron_variant LUSC-KR 3 185327833 185327833 single base substitution G T upstream_gene_variant LUSC-KR 3 185328776 185328776 single base substitution G T downstream_gene_variant LUSC-KR 3 185328776 185328776 single base substitution G T intron_variant LUSC-KR 3 185328776 185328776 single base substitution G T upstream_gene_variant LUSC-KR 3 185328933 185328933 single base substitution G A downstream_gene_variant LUSC-KR 3 185328933 185328933 single base substitution G A intron_variant LUSC-KR 3 185328933 185328933 single base substitution G A upstream_gene_variant LUSC-KR 3 185329273 185329273 single base substitution A G downstream_gene_variant LUSC-KR 3 185329273 185329273 single base substitution A G intron_variant LUSC-KR 3 185329273 185329273 single base substitution A G upstream_gene_variant LUSC-KR 3 185329447 185329447 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 185329447 185329447 single base substitution G C downstream_gene_variant LUSC-KR 3 185329447 185329447 single base substitution G C exon_variant LUSC-KR 3 185329447 185329447 single base substitution G C missense_variant R234T 701G>C LUSC-KR 3 185329447 185329447 single base substitution G C missense_variant R244T 731G>C LUSC-KR 3 185329447 185329447 single base substitution G C missense_variant R68T 203G>C LUSC-KR 3 185329447 185329447 single base substitution G C upstream_gene_variant LUSC-KR 3 185329569 185329569 single base substitution G C downstream_gene_variant LUSC-KR 3 185329569 185329569 single base substitution G C intron_variant LUSC-KR 3 185329569 185329569 single base substitution G C upstream_gene_variant LUSC-KR 3 185329598 185329598 single base substitution G A downstream_gene_variant LUSC-KR 3 185329598 185329598 single base substitution G A intron_variant LUSC-KR 3 185329598 185329598 single base substitution G A upstream_gene_variant LUSC-KR 3 185329611 185329611 single base substitution G C downstream_gene_variant LUSC-KR 3 185329611 185329611 single base substitution G C intron_variant LUSC-KR 3 185329611 185329611 single base substitution G C upstream_gene_variant LUSC-KR 3 185329729 185329729 single base substitution G C downstream_gene_variant LUSC-KR 3 185329729 185329729 single base substitution G C intron_variant LUSC-KR 3 185329729 185329729 single base substitution G C upstream_gene_variant LUSC-KR 3 185329840 185329840 single base substitution G C downstream_gene_variant LUSC-KR 3 185329840 185329840 single base substitution G C intron_variant LUSC-KR 3 185329840 185329840 single base substitution G C upstream_gene_variant LUSC-KR 3 185329924 185329924 single base substitution G A downstream_gene_variant LUSC-KR 3 185329924 185329924 single base substitution G A intron_variant LUSC-KR 3 185329924 185329924 single base substitution G A upstream_gene_variant LUSC-KR 3 185330022 185330022 single base substitution G C downstream_gene_variant LUSC-KR 3 185330022 185330022 single base substitution G C exon_variant LUSC-KR 3 185330022 185330022 single base substitution G C intron_variant LUSC-KR 3 185330022 185330022 single base substitution G C upstream_gene_variant LUSC-KR 3 185330024 185330024 single base substitution T G downstream_gene_variant LUSC-KR 3 185330024 185330024 single base substitution T G exon_variant LUSC-KR 3 185330024 185330024 single base substitution T G intron_variant LUSC-KR 3 185330024 185330024 single base substitution T G upstream_gene_variant LUSC-KR 3 185330581 185330581 single base substitution G C downstream_gene_variant LUSC-KR 3 185330581 185330581 single base substitution G C intron_variant LUSC-KR 3 185330581 185330581 single base substitution G C upstream_gene_variant LUSC-KR 3 185330740 185330740 single base substitution G T downstream_gene_variant LUSC-KR 3 185330740 185330740 single base substitution G T intron_variant LUSC-KR 3 185330740 185330740 single base substitution G T upstream_gene_variant LUSC-KR 3 185330781 185330781 single base substitution G A downstream_gene_variant LUSC-KR 3 185330781 185330781 single base substitution G A intron_variant LUSC-KR 3 185330781 185330781 single base substitution G A upstream_gene_variant LUSC-KR 3 185331166 185331166 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 185331166 185331166 single base substitution G A downstream_gene_variant LUSC-KR 3 185331166 185331166 single base substitution G A exon_variant LUSC-KR 3 185331166 185331166 single base substitution G A synonymous_variant T125T 375G>A LUSC-KR 3 185331166 185331166 single base substitution G A synonymous_variant T291T 873G>A LUSC-KR 3 185331166 185331166 single base substitution G A synonymous_variant T301T 903G>A LUSC-KR 3 185331166 185331166 single base substitution G A synonymous_variant T8T 24G>A LUSC-KR 3 185331166 185331166 single base substitution G A upstream_gene_variant LUSC-KR 3 185332059 185332059 single base substitution T C downstream_gene_variant LUSC-KR 3 185332059 185332059 single base substitution T C intron_variant LUSC-KR 3 185332059 185332059 single base substitution T C upstream_gene_variant LUSC-KR 3 185333928 185333928 single base substitution C T downstream_gene_variant LUSC-KR 3 185333928 185333928 single base substitution C T intron_variant LUSC-KR 3 185336966 185336966 single base substitution G C downstream_gene_variant LUSC-KR 3 185336966 185336966 single base substitution G C intron_variant LUSC-KR 3 185337404 185337404 single base substitution A G downstream_gene_variant LUSC-KR 3 185337404 185337404 single base substitution A G intron_variant LUSC-KR 3 185338531 185338531 single base substitution G A downstream_gene_variant LUSC-KR 3 185338531 185338531 single base substitution G A intron_variant LUSC-KR 3 185338878 185338878 single base substitution G T downstream_gene_variant LUSC-KR 3 185338878 185338878 single base substitution G T intron_variant LUSC-KR 3 185339135 185339135 single base substitution C G downstream_gene_variant LUSC-KR 3 185339135 185339135 single base substitution C G intron_variant LUSC-KR 3 185339165 185339165 single base substitution C T downstream_gene_variant LUSC-KR 3 185339165 185339165 single base substitution C T intron_variant LUSC-KR 3 185342438 185342438 single base substitution C A intron_variant LUSC-KR 3 185344022 185344022 single base substitution C T intron_variant LUSC-KR 3 185346346 185346346 single base substitution G T downstream_gene_variant LUSC-KR 3 185346346 185346346 single base substitution G T intron_variant LUSC-KR 3 185348207 185348207 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 185348207 185348207 single base substitution G C downstream_gene_variant LUSC-KR 3 185349384 185349384 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 185349384 185349384 single base substitution T C downstream_gene_variant LUSC-KR 3 185350592 185350592 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 185350592 185350592 single base substitution G A downstream_gene_variant LUSC-KR 3 185351549 185351549 single base substitution C A downstream_gene_variant LUSC-KR 3 185354361 185354361 single base substitution G T downstream_gene_variant LUSC-KR 3 185356215 185356215 single base substitution G C downstream_gene_variant LUSC-US 3 185316246 185316246 single base substitution C T 3_prime_UTR_variant LUSC-US 3 185316246 185316246 single base substitution C T 5_prime_UTR_variant LUSC-US 3 185316246 185316246 single base substitution C T exon_variant LUSC-US 3 185316246 185316246 single base substitution C T intron_variant LUSC-US 3 185316246 185316246 single base substitution C T synonymous_variant S122S 366C>T LUSC-US 3 185316246 185316246 single base substitution C T synonymous_variant S58S 174C>T LUSC-US 3 185316246 185316246 single base substitution C T synonymous_variant S68S 204C>T LUSC-US 3 185316246 185316246 single base substitution C T upstream_gene_variant LUSC-US 3 185316310 185316310 single base substitution C T 3_prime_UTR_variant LUSC-US 3 185316310 185316310 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 3 185316310 185316310 single base substitution C T exon_variant LUSC-US 3 185316310 185316310 single base substitution C T intron_variant LUSC-US 3 185316310 185316310 single base substitution C T missense_variant R144W 430C>T LUSC-US 3 185316310 185316310 single base substitution C T missense_variant R80W 238C>T LUSC-US 3 185316310 185316310 single base substitution C T missense_variant R90W 268C>T LUSC-US 3 185316310 185316310 single base substitution C T upstream_gene_variant LUSC-US 3 185316794 185316794 single base substitution A G 3_prime_UTR_variant LUSC-US 3 185316794 185316794 single base substitution A G exon_variant LUSC-US 3 185316794 185316794 single base substitution A G intron_variant LUSC-US 3 185316794 185316794 single base substitution A G missense_variant N104D 310A>G LUSC-US 3 185316794 185316794 single base substitution A G missense_variant N114D 340A>G LUSC-US 3 185316794 185316794 single base substitution A G missense_variant N168D 502A>G LUSC-US 3 185337233 185337233 single base substitution C G 3_prime_UTR_variant LUSC-US 3 185337233 185337233 single base substitution C G downstream_gene_variant LUSC-US 3 185337233 185337233 single base substitution C G exon_variant LUSC-US 3 185337233 185337233 single base substitution C G synonymous_variant L126L 378C>G LUSC-US 3 185337233 185337233 single base substitution C G synonymous_variant L287L 861C>G LUSC-US 3 185337233 185337233 single base substitution C G synonymous_variant L453L 1359C>G LUSC-US 3 185337233 185337233 single base substitution C G synonymous_variant L463L 1389C>G LUSC-US 3 185347593 185347593 single base substitution G C 3_prime_UTR_variant LUSC-US 3 185347593 185347593 single base substitution G C downstream_gene_variant LUSC-US 3 185347593 185347593 single base substitution G C missense_variant K401N 1203G>C LUSC-US 3 185347593 185347593 single base substitution G C missense_variant K567N 1701G>C LUSC-US 3 185347593 185347593 single base substitution G C missense_variant K577N 1731G>C MALY-DE 3 185295792 185295792 single base substitution A G upstream_gene_variant MALY-DE 3 185298266 185298266 single base substitution C T upstream_gene_variant MALY-DE 3 185300268 185300268 single base substitution T G upstream_gene_variant MALY-DE 3 185302241 185302264 deletion of <=200bp ATATATATATATATATATATATAT - intron_variant MALY-DE 3 185302241 185302264 deletion of <=200bp ATATATATATATATATATATATAT - upstream_gene_variant MALY-DE 3 185304376 185304376 single base substitution C T intron_variant MALY-DE 3 185304450 185304450 single base substitution G A intron_variant MALY-DE 3 185307831 185307831 single base substitution G C intron_variant MALY-DE 3 185311436 185311436 single base substitution T A intron_variant MALY-DE 3 185312211 185312211 insertion of <=200bp - CGGG intron_variant MALY-DE 3 185312211 185312211 insertion of <=200bp - CGGG upstream_gene_variant MALY-DE 3 185317785 185317785 single base substitution G A intron_variant MALY-DE 3 185327025 185327025 single base substitution T A downstream_gene_variant MALY-DE 3 185327025 185327025 single base substitution T A exon_variant MALY-DE 3 185327025 185327025 single base substitution T A intron_variant MALY-DE 3 185327025 185327025 single base substitution T A upstream_gene_variant MALY-DE 3 185336607 185336607 single base substitution C G downstream_gene_variant MALY-DE 3 185336607 185336607 single base substitution C G intron_variant MALY-DE 3 185342258 185342258 single base substitution G A downstream_gene_variant MALY-DE 3 185342258 185342258 single base substitution G A intron_variant MALY-DE 3 185350707 185350707 single base substitution G A 3_prime_UTR_variant MALY-DE 3 185350707 185350707 single base substitution G A downstream_gene_variant MALY-DE 3 185351397 185351398 deletion of <=200bp CA - downstream_gene_variant MALY-DE 3 185354155 185354155 single base substitution C T downstream_gene_variant MALY-DE 3 185355145 185355145 single base substitution T C downstream_gene_variant MALY-DE 3 185355432 185355432 single base substitution G C downstream_gene_variant MELA-AU 3 185296116 185296116 single base substitution G A upstream_gene_variant MELA-AU 3 185296251 185296251 single base substitution G A upstream_gene_variant MELA-AU 3 185296397 185296397 single base substitution G A upstream_gene_variant MELA-AU 3 185296622 185296622 single base substitution C T upstream_gene_variant MELA-AU 3 185296628 185296628 single base substitution G A upstream_gene_variant MELA-AU 3 185296705 185296705 single base substitution G A upstream_gene_variant MELA-AU 3 185296878 185296878 single base substitution G A upstream_gene_variant MELA-AU 3 185296965 185296965 single base substitution G A upstream_gene_variant MELA-AU 3 185297048 185297048 single base substitution G A upstream_gene_variant MELA-AU 3 185297103 185297103 single base substitution G A upstream_gene_variant MELA-AU 3 185297235 185297235 single base substitution G C upstream_gene_variant MELA-AU 3 185297348 185297348 single base substitution A G upstream_gene_variant MELA-AU 3 185297375 185297375 single base substitution C T upstream_gene_variant MELA-AU 3 185297391 185297391 single base substitution C T upstream_gene_variant MELA-AU 3 185297624 185297624 single base substitution C T upstream_gene_variant MELA-AU 3 185298032 185298033 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 185298480 185298480 single base substitution G A upstream_gene_variant MELA-AU 3 185298572 185298574 deletion of <=200bp ACA - upstream_gene_variant MELA-AU 3 185298845 185298845 single base substitution C T upstream_gene_variant MELA-AU 3 185299077 185299077 single base substitution G A upstream_gene_variant MELA-AU 3 185299216 185299216 single base substitution C T upstream_gene_variant MELA-AU 3 185299243 185299243 single base substitution C T upstream_gene_variant MELA-AU 3 185299628 185299628 single base substitution G A upstream_gene_variant MELA-AU 3 185299852 185299852 single base substitution G A upstream_gene_variant MELA-AU 3 185299853 185299853 single base substitution G A upstream_gene_variant MELA-AU 3 185300125 185300125 single base substitution G A upstream_gene_variant MELA-AU 3 185300179 185300179 single base substitution G A upstream_gene_variant MELA-AU 3 185300295 185300295 single base substitution C T 5_prime_UTR_variant MELA-AU 3 185300295 185300295 single base substitution C T upstream_gene_variant MELA-AU 3 185300384 185300384 single base substitution C T synonymous_variant I14I 42C>T MELA-AU 3 185300384 185300384 single base substitution C T upstream_gene_variant MELA-AU 3 185300422 185300422 single base substitution C T missense_variant P27L 80C>T MELA-AU 3 185300422 185300422 single base substitution C T upstream_gene_variant MELA-AU 3 185300577 185300577 single base substitution G A exon_variant MELA-AU 3 185300577 185300577 single base substitution G A missense_variant E15K 43G>A MELA-AU 3 185300577 185300577 single base substitution G A missense_variant E79K 235G>A MELA-AU 3 185300577 185300577 single base substitution G A upstream_gene_variant MELA-AU 3 185300709 185300709 single base substitution C T intron_variant MELA-AU 3 185300709 185300709 single base substitution C T upstream_gene_variant MELA-AU 3 185301132 185301132 single base substitution C T intron_variant MELA-AU 3 185301132 185301132 single base substitution C T upstream_gene_variant MELA-AU 3 185301133 185301133 single base substitution C T intron_variant MELA-AU 3 185301133 185301133 single base substitution C T upstream_gene_variant MELA-AU 3 185301353 185301353 single base substitution G A intron_variant MELA-AU 3 185301353 185301353 single base substitution G A upstream_gene_variant MELA-AU 3 185301437 185301437 single base substitution C T intron_variant MELA-AU 3 185301437 185301437 single base substitution C T upstream_gene_variant MELA-AU 3 185301496 185301496 single base substitution G A intron_variant MELA-AU 3 185301496 185301496 single base substitution G A upstream_gene_variant MELA-AU 3 185301509 185301509 single base substitution C T intron_variant MELA-AU 3 185301509 185301509 single base substitution C T upstream_gene_variant MELA-AU 3 185301762 185301762 single base substitution G A intron_variant MELA-AU 3 185301762 185301762 single base substitution G A upstream_gene_variant MELA-AU 3 185301886 185301886 single base substitution G A intron_variant MELA-AU 3 185301886 185301886 single base substitution G A upstream_gene_variant MELA-AU 3 185301958 185301958 single base substitution C T intron_variant MELA-AU 3 185301958 185301958 single base substitution C T upstream_gene_variant MELA-AU 3 185302092 185302092 single base substitution G A intron_variant MELA-AU 3 185302092 185302092 single base substitution G A upstream_gene_variant MELA-AU 3 185302282 185302282 single base substitution T C intron_variant MELA-AU 3 185302282 185302282 single base substitution T C upstream_gene_variant MELA-AU 3 185302611 185302611 single base substitution G A intron_variant MELA-AU 3 185302611 185302611 single base substitution G A upstream_gene_variant MELA-AU 3 185302731 185302731 single base substitution G A intron_variant MELA-AU 3 185302731 185302731 single base substitution G A upstream_gene_variant MELA-AU 3 185302833 185302833 single base substitution C T intron_variant MELA-AU 3 185302833 185302833 single base substitution C T upstream_gene_variant MELA-AU 3 185303142 185303142 single base substitution G A intron_variant MELA-AU 3 185303142 185303142 single base substitution G A upstream_gene_variant MELA-AU 3 185303784 185303784 single base substitution G A intron_variant MELA-AU 3 185303784 185303784 single base substitution G A upstream_gene_variant MELA-AU 3 185303979 185303979 single base substitution G A 5_prime_UTR_variant MELA-AU 3 185303979 185303979 single base substitution G A intron_variant MELA-AU 3 185303979 185303979 single base substitution G A upstream_gene_variant MELA-AU 3 185303983 185303983 single base substitution C T 5_prime_UTR_variant MELA-AU 3 185303983 185303983 single base substitution C T intron_variant MELA-AU 3 185303983 185303983 single base substitution C T upstream_gene_variant MELA-AU 3 185303987 185303987 single base substitution C T 5_prime_UTR_variant MELA-AU 3 185303987 185303987 single base substitution C T intron_variant MELA-AU 3 185303987 185303987 single base substitution C T upstream_gene_variant MELA-AU 3 185303999 185303999 single base substitution G A 5_prime_UTR_variant MELA-AU 3 185303999 185303999 single base substitution G A intron_variant MELA-AU 3 185303999 185303999 single base substitution G A upstream_gene_variant MELA-AU 3 185304077 185304077 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 185304077 185304077 single base substitution C G intron_variant MELA-AU 3 185304077 185304077 single base substitution C G upstream_gene_variant MELA-AU 3 185304945 185304945 single base substitution G T intron_variant MELA-AU 3 185305006 185305006 single base substitution C T intron_variant MELA-AU 3 185305166 185305166 single base substitution C T intron_variant MELA-AU 3 185306090 185306090 single base substitution C T intron_variant MELA-AU 3 185306206 185306206 single base substitution C T intron_variant MELA-AU 3 185306610 185306610 single base substitution C T intron_variant MELA-AU 3 185306647 185306647 single base substitution C T intron_variant MELA-AU 3 185307116 185307116 single base substitution C T intron_variant MELA-AU 3 185307366 185307366 single base substitution C T intron_variant MELA-AU 3 185308219 185308219 single base substitution C T intron_variant MELA-AU 3 185308250 185308250 single base substitution C T intron_variant MELA-AU 3 185308364 185308364 single base substitution C T intron_variant MELA-AU 3 185308370 185308370 single base substitution C T intron_variant MELA-AU 3 185308398 185308398 single base substitution T C intron_variant MELA-AU 3 185309259 185309259 single base substitution C T intron_variant MELA-AU 3 185309536 185309536 single base substitution C T intron_variant MELA-AU 3 185309610 185309610 single base substitution C T intron_variant MELA-AU 3 185311715 185311715 single base substitution C T intron_variant MELA-AU 3 185311742 185311742 single base substitution C T intron_variant MELA-AU 3 185312091 185312091 single base substitution C T intron_variant MELA-AU 3 185312091 185312091 single base substitution C T upstream_gene_variant MELA-AU 3 185312186 185312186 single base substitution C T intron_variant MELA-AU 3 185312186 185312186 single base substitution C T upstream_gene_variant MELA-AU 3 185312438 185312438 single base substitution C T intron_variant MELA-AU 3 185312438 185312438 single base substitution C T upstream_gene_variant MELA-AU 3 185312766 185312767 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 185312766 185312767 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 185313060 185313085 deletion of <=200bp TAGAGTCTGGATGACAGACTGTGGGT - intron_variant MELA-AU 3 185313060 185313085 deletion of <=200bp TAGAGTCTGGATGACAGACTGTGGGT - upstream_gene_variant MELA-AU 3 185313097 185313097 single base substitution C T intron_variant MELA-AU 3 185313097 185313097 single base substitution C T upstream_gene_variant MELA-AU 3 185314589 185314589 single base substitution C T intron_variant MELA-AU 3 185314589 185314589 single base substitution C T upstream_gene_variant MELA-AU 3 185314958 185314958 single base substitution C T intron_variant MELA-AU 3 185314958 185314958 single base substitution C T upstream_gene_variant MELA-AU 3 185315024 185315024 single base substitution G T intron_variant MELA-AU 3 185315024 185315024 single base substitution G T upstream_gene_variant MELA-AU 3 185315240 185315240 single base substitution C T intron_variant MELA-AU 3 185315240 185315240 single base substitution C T upstream_gene_variant MELA-AU 3 185317805 185317805 single base substitution G A intron_variant MELA-AU 3 185317952 185317952 single base substitution C T intron_variant MELA-AU 3 185318089 185318089 single base substitution C T intron_variant MELA-AU 3 185319535 185319535 single base substitution C T downstream_gene_variant MELA-AU 3 185319535 185319535 single base substitution C T intron_variant MELA-AU 3 185319725 185319725 single base substitution C T downstream_gene_variant MELA-AU 3 185319725 185319725 single base substitution C T intron_variant MELA-AU 3 185320342 185320350 deletion of <=200bp TCACCATTT - downstream_gene_variant MELA-AU 3 185320342 185320350 deletion of <=200bp TCACCATTT - intron_variant MELA-AU 3 185320687 185320687 single base substitution C G downstream_gene_variant MELA-AU 3 185320687 185320687 single base substitution C G intron_variant MELA-AU 3 185321442 185321442 single base substitution C T downstream_gene_variant MELA-AU 3 185321442 185321442 single base substitution C T intron_variant MELA-AU 3 185321482 185321482 single base substitution C T downstream_gene_variant MELA-AU 3 185321482 185321482 single base substitution C T intron_variant MELA-AU 3 185323311 185323311 single base substitution G A downstream_gene_variant MELA-AU 3 185323311 185323311 single base substitution G A intron_variant MELA-AU 3 185323311 185323311 single base substitution G A upstream_gene_variant MELA-AU 3 185323930 185323930 single base substitution C T intron_variant MELA-AU 3 185323930 185323930 single base substitution C T upstream_gene_variant MELA-AU 3 185323960 185323960 single base substitution C T intron_variant MELA-AU 3 185323960 185323960 single base substitution C T upstream_gene_variant MELA-AU 3 185324084 185324084 single base substitution T G intron_variant MELA-AU 3 185324084 185324084 single base substitution T G upstream_gene_variant MELA-AU 3 185324309 185324309 single base substitution C T downstream_gene_variant MELA-AU 3 185324309 185324309 single base substitution C T intron_variant MELA-AU 3 185324309 185324309 single base substitution C T upstream_gene_variant MELA-AU 3 185324827 185324827 single base substitution T G downstream_gene_variant MELA-AU 3 185324827 185324827 single base substitution T G intron_variant MELA-AU 3 185324827 185324827 single base substitution T G upstream_gene_variant MELA-AU 3 185324971 185324971 single base substitution G A downstream_gene_variant MELA-AU 3 185324971 185324971 single base substitution G A intron_variant MELA-AU 3 185324971 185324971 single base substitution G A upstream_gene_variant MELA-AU 3 185325183 185325183 single base substitution C T downstream_gene_variant MELA-AU 3 185325183 185325183 single base substitution C T intron_variant MELA-AU 3 185325183 185325183 single base substitution C T upstream_gene_variant MELA-AU 3 185325510 185325510 single base substitution C T downstream_gene_variant MELA-AU 3 185325510 185325510 single base substitution C T intron_variant MELA-AU 3 185325510 185325510 single base substitution C T upstream_gene_variant MELA-AU 3 185325572 185325572 single base substitution C T downstream_gene_variant MELA-AU 3 185325572 185325572 single base substitution C T intron_variant MELA-AU 3 185325572 185325572 single base substitution C T upstream_gene_variant MELA-AU 3 185325741 185325741 single base substitution C T downstream_gene_variant MELA-AU 3 185325741 185325741 single base substitution C T intron_variant MELA-AU 3 185325741 185325741 single base substitution C T upstream_gene_variant MELA-AU 3 185326528 185326528 single base substitution G A downstream_gene_variant MELA-AU 3 185326528 185326528 single base substitution G A intron_variant MELA-AU 3 185326528 185326528 single base substitution G A upstream_gene_variant MELA-AU 3 185327523 185327523 single base substitution C T downstream_gene_variant MELA-AU 3 185327523 185327523 single base substitution C T intron_variant MELA-AU 3 185327523 185327523 single base substitution C T upstream_gene_variant MELA-AU 3 185327531 185327531 single base substitution C T downstream_gene_variant MELA-AU 3 185327531 185327531 single base substitution C T intron_variant MELA-AU 3 185327531 185327531 single base substitution C T upstream_gene_variant MELA-AU 3 185327543 185327543 single base substitution C T downstream_gene_variant MELA-AU 3 185327543 185327543 single base substitution C T intron_variant MELA-AU 3 185327543 185327543 single base substitution C T upstream_gene_variant MELA-AU 3 185327583 185327583 single base substitution C T downstream_gene_variant MELA-AU 3 185327583 185327583 single base substitution C T intron_variant MELA-AU 3 185327583 185327583 single base substitution C T upstream_gene_variant MELA-AU 3 185328707 185328707 single base substitution C T downstream_gene_variant MELA-AU 3 185328707 185328707 single base substitution C T intron_variant MELA-AU 3 185328707 185328707 single base substitution C T upstream_gene_variant MELA-AU 3 185328733 185328733 single base substitution G A downstream_gene_variant MELA-AU 3 185328733 185328733 single base substitution G A intron_variant MELA-AU 3 185328733 185328733 single base substitution G A upstream_gene_variant MELA-AU 3 185328739 185328739 single base substitution C T downstream_gene_variant MELA-AU 3 185328739 185328739 single base substitution C T intron_variant MELA-AU 3 185328739 185328739 single base substitution C T upstream_gene_variant MELA-AU 3 185330043 185330043 single base substitution T A downstream_gene_variant MELA-AU 3 185330043 185330043 single base substitution T A exon_variant MELA-AU 3 185330043 185330043 single base substitution T A intron_variant MELA-AU 3 185330043 185330043 single base substitution T A upstream_gene_variant MELA-AU 3 185330417 185330417 single base substitution A C 3_prime_UTR_variant MELA-AU 3 185330417 185330417 single base substitution A C downstream_gene_variant MELA-AU 3 185330417 185330417 single base substitution A C exon_variant MELA-AU 3 185330417 185330417 single base substitution A C synonymous_variant G104G 312A>C MELA-AU 3 185330417 185330417 single base substitution A C synonymous_variant G270G 810A>C MELA-AU 3 185330417 185330417 single base substitution A C synonymous_variant G280G 840A>C MELA-AU 3 185330417 185330417 single base substitution A C upstream_gene_variant MELA-AU 3 185330729 185330729 single base substitution C T downstream_gene_variant MELA-AU 3 185330729 185330729 single base substitution C T intron_variant MELA-AU 3 185330729 185330729 single base substitution C T upstream_gene_variant MELA-AU 3 185330761 185330761 single base substitution A T downstream_gene_variant MELA-AU 3 185330761 185330761 single base substitution A T intron_variant MELA-AU 3 185330761 185330761 single base substitution A T upstream_gene_variant MELA-AU 3 185330860 185330860 single base substitution C T downstream_gene_variant MELA-AU 3 185330860 185330860 single base substitution C T intron_variant MELA-AU 3 185330860 185330860 single base substitution C T upstream_gene_variant MELA-AU 3 185330993 185330993 single base substitution C T downstream_gene_variant MELA-AU 3 185330993 185330993 single base substitution C T intron_variant MELA-AU 3 185330993 185330993 single base substitution C T upstream_gene_variant MELA-AU 3 185331127 185331127 single base substitution C T downstream_gene_variant MELA-AU 3 185331127 185331127 single base substitution C T intron_variant MELA-AU 3 185331127 185331127 single base substitution C T splice_region_variant MELA-AU 3 185331127 185331127 single base substitution C T upstream_gene_variant MELA-AU 3 185331771 185331771 single base substitution T G downstream_gene_variant MELA-AU 3 185331771 185331771 single base substitution T G intron_variant MELA-AU 3 185331771 185331771 single base substitution T G upstream_gene_variant MELA-AU 3 185331942 185331942 single base substitution C T downstream_gene_variant MELA-AU 3 185331942 185331942 single base substitution C T intron_variant MELA-AU 3 185331942 185331942 single base substitution C T upstream_gene_variant MELA-AU 3 185332406 185332406 single base substitution C T 3_prime_UTR_variant MELA-AU 3 185332406 185332406 single base substitution C T downstream_gene_variant MELA-AU 3 185332406 185332406 single base substitution C T exon_variant MELA-AU 3 185332406 185332406 single base substitution C T missense_variant R154C 460C>T MELA-AU 3 185332406 185332406 single base substitution C T missense_variant R320C 958C>T MELA-AU 3 185332406 185332406 single base substitution C T missense_variant R330C 988C>T MELA-AU 3 185332406 185332406 single base substitution C T missense_variant R37C 109C>T MELA-AU 3 185332579 185332579 single base substitution C T downstream_gene_variant MELA-AU 3 185332579 185332579 single base substitution C T intron_variant MELA-AU 3 185333452 185333452 single base substitution T G downstream_gene_variant MELA-AU 3 185333452 185333452 single base substitution T G intron_variant MELA-AU 3 185333765 185333765 single base substitution C T downstream_gene_variant MELA-AU 3 185333765 185333765 single base substitution C T intron_variant MELA-AU 3 185335137 185335137 single base substitution C T downstream_gene_variant MELA-AU 3 185335137 185335137 single base substitution C T intron_variant MELA-AU 3 185335308 185335308 single base substitution C T 3_prime_UTR_variant MELA-AU 3 185335308 185335308 single base substitution C T downstream_gene_variant MELA-AU 3 185335308 185335308 single base substitution C T exon_variant MELA-AU 3 185335308 185335308 single base substitution C T intron_variant MELA-AU 3 185335308 185335308 single base substitution C T missense_variant P208L 623C>T MELA-AU 3 185335308 185335308 single base substitution C T missense_variant P374L 1121C>T MELA-AU 3 185335308 185335308 single base substitution C T missense_variant P384L 1151C>T MELA-AU 3 185335842 185335842 single base substitution C T downstream_gene_variant MELA-AU 3 185335842 185335842 single base substitution C T intron_variant MELA-AU 3 185335859 185335859 single base substitution A G downstream_gene_variant MELA-AU 3 185335859 185335859 single base substitution A G intron_variant MELA-AU 3 185336395 185336395 single base substitution G A downstream_gene_variant MELA-AU 3 185336395 185336395 single base substitution G A intron_variant MELA-AU 3 185336661 185336661 single base substitution C T downstream_gene_variant MELA-AU 3 185336661 185336661 single base substitution C T intron_variant MELA-AU 3 185337741 185337741 single base substitution C T downstream_gene_variant MELA-AU 3 185337741 185337741 single base substitution C T intron_variant MELA-AU 3 185338350 185338350 single base substitution C T downstream_gene_variant MELA-AU 3 185338350 185338350 single base substitution C T intron_variant MELA-AU 3 185338477 185338477 single base substitution C T downstream_gene_variant MELA-AU 3 185338477 185338477 single base substitution C T intron_variant MELA-AU 3 185339166 185339166 single base substitution T G downstream_gene_variant MELA-AU 3 185339166 185339166 single base substitution T G intron_variant MELA-AU 3 185339705 185339705 single base substitution T C downstream_gene_variant MELA-AU 3 185339705 185339705 single base substitution T C intron_variant MELA-AU 3 185339982 185339982 single base substitution A G downstream_gene_variant MELA-AU 3 185339982 185339982 single base substitution A G intron_variant MELA-AU 3 185340070 185340070 single base substitution C T downstream_gene_variant MELA-AU 3 185340070 185340070 single base substitution C T intron_variant MELA-AU 3 185340510 185340510 single base substitution C T downstream_gene_variant MELA-AU 3 185340510 185340510 single base substitution C T intron_variant MELA-AU 3 185340654 185340655 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 185340654 185340655 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 185340846 185340847 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 185340846 185340847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 185340959 185340959 single base substitution C T downstream_gene_variant MELA-AU 3 185340959 185340959 single base substitution C T intron_variant MELA-AU 3 185341294 185341295 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 3 185341294 185341295 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 185341598 185341598 single base substitution G A downstream_gene_variant MELA-AU 3 185341598 185341598 single base substitution G A intron_variant MELA-AU 3 185342305 185342305 single base substitution C T downstream_gene_variant MELA-AU 3 185342305 185342305 single base substitution C T intron_variant MELA-AU 3 185343009 185343010 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 185343729 185343729 single base substitution C T intron_variant MELA-AU 3 185343888 185343888 single base substitution C T intron_variant MELA-AU 3 185344023 185344023 single base substitution C T intron_variant MELA-AU 3 185344666 185344666 single base substitution C T downstream_gene_variant MELA-AU 3 185344666 185344666 single base substitution C T intron_variant MELA-AU 3 185344689 185344689 single base substitution C T downstream_gene_variant MELA-AU 3 185344689 185344689 single base substitution C T intron_variant MELA-AU 3 185345044 185345044 single base substitution C T downstream_gene_variant MELA-AU 3 185345044 185345044 single base substitution C T intron_variant MELA-AU 3 185345454 185345454 single base substitution C T downstream_gene_variant MELA-AU 3 185345454 185345454 single base substitution C T intron_variant MELA-AU 3 185345967 185345967 single base substitution C T downstream_gene_variant MELA-AU 3 185345967 185345967 single base substitution C T intron_variant MELA-AU 3 185348148 185348148 single base substitution G A 3_prime_UTR_variant MELA-AU 3 185348148 185348148 single base substitution G A downstream_gene_variant MELA-AU 3 185349817 185349817 single base substitution G A 3_prime_UTR_variant MELA-AU 3 185349817 185349817 single base substitution G A downstream_gene_variant MELA-AU 3 185350422 185350422 single base substitution C T 3_prime_UTR_variant MELA-AU 3 185350422 185350422 single base substitution C T downstream_gene_variant MELA-AU 3 185351108 185351108 single base substitution G A 3_prime_UTR_variant MELA-AU 3 185351108 185351108 single base substitution G A downstream_gene_variant MELA-AU 3 185351325 185351325 single base substitution C T 3_prime_UTR_variant MELA-AU 3 185351325 185351325 single base substitution C T downstream_gene_variant MELA-AU 3 185351359 185351359 single base substitution T C downstream_gene_variant MELA-AU 3 185351628 185351628 single base substitution C T downstream_gene_variant MELA-AU 3 185352481 185352481 single base substitution G A downstream_gene_variant MELA-AU 3 185352510 185352510 single base substitution C T downstream_gene_variant MELA-AU 3 185353401 185353401 single base substitution C T downstream_gene_variant MELA-AU 3 185353961 185353962 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 3 185354421 185354421 single base substitution G A downstream_gene_variant MELA-AU 3 185354925 185354929 deletion of <=200bp AAAAC - downstream_gene_variant MELA-AU 3 185355707 185355707 single base substitution C T downstream_gene_variant MELA-AU 3 185355992 185355992 single base substitution C T downstream_gene_variant ORCA-IN 3 185303739 185303739 single base substitution C G intron_variant ORCA-IN 3 185303739 185303739 single base substitution C G upstream_gene_variant ORCA-IN 3 185306226 185306226 single base substitution G A intron_variant ORCA-IN 3 185330929 185330929 single base substitution G A downstream_gene_variant ORCA-IN 3 185330929 185330929 single base substitution G A intron_variant ORCA-IN 3 185330929 185330929 single base substitution G A upstream_gene_variant ORCA-IN 3 185337854 185337854 deletion of <=200bp A - downstream_gene_variant ORCA-IN 3 185337854 185337854 deletion of <=200bp A - intron_variant OV-AU 3 185295930 185295930 single base substitution T C upstream_gene_variant OV-AU 3 185298777 185298777 single base substitution A G upstream_gene_variant OV-AU 3 185302286 185302286 single base substitution C T intron_variant OV-AU 3 185302286 185302286 single base substitution C T upstream_gene_variant OV-AU 3 185308685 185308685 single base substitution T G intron_variant OV-AU 3 185312844 185312844 single base substitution T G intron_variant OV-AU 3 185312844 185312844 single base substitution T G upstream_gene_variant OV-AU 3 185313690 185313690 single base substitution A G intron_variant OV-AU 3 185313690 185313690 single base substitution A G upstream_gene_variant OV-AU 3 185324775 185324775 single base substitution T C downstream_gene_variant OV-AU 3 185324775 185324775 single base substitution T C intron_variant OV-AU 3 185324775 185324775 single base substitution T C upstream_gene_variant OV-AU 3 185333948 185333948 single base substitution C T downstream_gene_variant OV-AU 3 185333948 185333948 single base substitution C T intron_variant OV-AU 3 185347965 185347965 single base substitution G T 3_prime_UTR_variant OV-AU 3 185347965 185347965 single base substitution G T downstream_gene_variant OV-AU 3 185350029 185350029 single base substitution T G 3_prime_UTR_variant OV-AU 3 185350029 185350029 single base substitution T G downstream_gene_variant OV-AU 3 185356148 185356148 single base substitution C G downstream_gene_variant OV-AU 3 185356193 185356193 single base substitution T A downstream_gene_variant PACA-AU 3 185299010 185299010 single base substitution G T upstream_gene_variant PACA-AU 3 185302238 185302265 deletion of <=200bp TACATATATATATATATATATATATATA - intron_variant PACA-AU 3 185302238 185302265 deletion of <=200bp TACATATATATATATATATATATATATA - upstream_gene_variant PACA-AU 3 185303893 185303893 single base substitution T C intron_variant PACA-AU 3 185303893 185303893 single base substitution T C upstream_gene_variant PACA-AU 3 185304492 185304492 single base substitution C T intron_variant PACA-AU 3 185308610 185308616 deletion of <=200bp CTGCACT - intron_variant PACA-AU 3 185315002 185315002 insertion of <=200bp - GT intron_variant PACA-AU 3 185315002 185315002 insertion of <=200bp - GT upstream_gene_variant PACA-AU 3 185322417 185322417 single base substitution A T downstream_gene_variant PACA-AU 3 185322417 185322417 single base substitution A T intron_variant PACA-AU 3 185322417 185322417 single base substitution A T upstream_gene_variant PACA-AU 3 185322642 185322642 single base substitution C T downstream_gene_variant PACA-AU 3 185322642 185322642 single base substitution C T intron_variant PACA-AU 3 185322642 185322642 single base substitution C T upstream_gene_variant PACA-AU 3 185333162 185333162 single base substitution G A downstream_gene_variant PACA-AU 3 185333162 185333162 single base substitution G A intron_variant PACA-AU 3 185338281 185338281 single base substitution A G downstream_gene_variant PACA-AU 3 185338281 185338281 single base substitution A G intron_variant PACA-AU 3 185340476 185340476 single base substitution C G downstream_gene_variant PACA-AU 3 185340476 185340476 single base substitution C G intron_variant PACA-AU 3 185343121 185343121 single base substitution G C intron_variant PACA-AU 3 185343452 185343452 single base substitution G A intron_variant PACA-AU 3 185343493 185343493 single base substitution G C intron_variant PACA-AU 3 185343556 185343556 single base substitution G C intron_variant PACA-AU 3 185343576 185343576 single base substitution G A intron_variant PACA-AU 3 185343626 185343626 single base substitution G A intron_variant PACA-AU 3 185345021 185345021 single base substitution G A downstream_gene_variant PACA-AU 3 185345021 185345021 single base substitution G A intron_variant PACA-AU 3 185346090 185346090 single base substitution A G downstream_gene_variant PACA-AU 3 185346090 185346090 single base substitution A G intron_variant PACA-AU 3 185347213 185347213 single base substitution A C downstream_gene_variant PACA-AU 3 185347213 185347213 single base substitution A C intron_variant PACA-AU 3 185348022 185348022 single base substitution A T 3_prime_UTR_variant PACA-AU 3 185348022 185348022 single base substitution A T downstream_gene_variant PACA-AU 3 185348214 185348214 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 3 185348214 185348214 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 185350520 185350520 single base substitution C G 3_prime_UTR_variant PACA-AU 3 185350520 185350520 single base substitution C G downstream_gene_variant PACA-AU 3 185350814 185350814 single base substitution C T 3_prime_UTR_variant PACA-AU 3 185350814 185350814 single base substitution C T downstream_gene_variant PACA-AU 3 185350831 185350831 single base substitution C T 3_prime_UTR_variant PACA-AU 3 185350831 185350831 single base substitution C T downstream_gene_variant PACA-AU 3 185350872 185350872 single base substitution C A 3_prime_UTR_variant PACA-AU 3 185350872 185350872 single base substitution C A downstream_gene_variant PACA-AU 3 185350926 185350926 single base substitution C G 3_prime_UTR_variant PACA-AU 3 185350926 185350926 single base substitution C G downstream_gene_variant PACA-AU 3 185351119 185351119 single base substitution C G 3_prime_UTR_variant PACA-AU 3 185351119 185351119 single base substitution C G downstream_gene_variant PACA-AU 3 185351308 185351308 single base substitution C G 3_prime_UTR_variant PACA-AU 3 185351308 185351308 single base substitution C G downstream_gene_variant PACA-AU 3 185351328 185351328 single base substitution C G 3_prime_UTR_variant PACA-AU 3 185351328 185351328 single base substitution C G downstream_gene_variant PACA-AU 3 185351338 185351338 single base substitution C T 3_prime_UTR_variant PACA-AU 3 185351338 185351338 single base substitution C T downstream_gene_variant PACA-AU 3 185351477 185351477 single base substitution C A downstream_gene_variant PACA-AU 3 185352816 185352816 single base substitution C T downstream_gene_variant PACA-AU 3 185354925 185354929 deletion of <=200bp AAAAC - downstream_gene_variant PACA-AU 3 185355108 185355108 single base substitution G T downstream_gene_variant PACA-CA 3 185298832 185298832 single base substitution G A upstream_gene_variant PACA-CA 3 185301590 185301590 single base substitution G C intron_variant PACA-CA 3 185301590 185301590 single base substitution G C upstream_gene_variant PACA-CA 3 185302344 185302344 insertion of <=200bp - T intron_variant PACA-CA 3 185302344 185302344 insertion of <=200bp - T upstream_gene_variant PACA-CA 3 185303782 185303782 single base substitution G A intron_variant PACA-CA 3 185303782 185303782 single base substitution G A upstream_gene_variant PACA-CA 3 185304025 185304025 deletion of <=200bp G - 5_prime_UTR_variant PACA-CA 3 185304025 185304025 deletion of <=200bp G - intron_variant PACA-CA 3 185304025 185304025 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 185305261 185305261 single base substitution C T intron_variant PACA-CA 3 185305264 185305264 single base substitution A T intron_variant PACA-CA 3 185306688 185306688 single base substitution A G intron_variant PACA-CA 3 185311015 185311015 deletion of <=200bp A - intron_variant PACA-CA 3 185323227 185323227 single base substitution T C downstream_gene_variant PACA-CA 3 185323227 185323227 single base substitution T C intron_variant PACA-CA 3 185323227 185323227 single base substitution T C upstream_gene_variant PACA-CA 3 185327163 185327163 single base substitution C G downstream_gene_variant PACA-CA 3 185327163 185327163 single base substitution C G intron_variant PACA-CA 3 185327163 185327163 single base substitution C G upstream_gene_variant PACA-CA 3 185329108 185329117 deletion of <=200bp CATTTAAATA - downstream_gene_variant PACA-CA 3 185329108 185329117 deletion of <=200bp CATTTAAATA - intron_variant PACA-CA 3 185329108 185329117 deletion of <=200bp CATTTAAATA - upstream_gene_variant PACA-CA 3 185333241 185333241 single base substitution C G downstream_gene_variant PACA-CA 3 185333241 185333241 single base substitution C G intron_variant PACA-CA 3 185335215 185335215 single base substitution T C downstream_gene_variant PACA-CA 3 185335215 185335215 single base substitution T C intron_variant PACA-CA 3 185339660 185339660 single base substitution G A 3_prime_UTR_variant PACA-CA 3 185339660 185339660 single base substitution G A downstream_gene_variant PACA-CA 3 185339660 185339660 single base substitution G A missense_variant G161E 482G>A PACA-CA 3 185339660 185339660 single base substitution G A missense_variant G322E 965G>A PACA-CA 3 185339660 185339660 single base substitution G A missense_variant G488E 1463G>A PACA-CA 3 185339660 185339660 single base substitution G A missense_variant G498E 1493G>A PACA-CA 3 185344237 185344237 single base substitution G C downstream_gene_variant PACA-CA 3 185344237 185344237 single base substitution G C intron_variant PACA-CA 3 185344563 185344566 deletion of <=200bp AAAT - downstream_gene_variant PACA-CA 3 185344563 185344566 deletion of <=200bp AAAT - intron_variant PACA-CA 3 185347745 185347745 single base substitution T G 3_prime_UTR_variant PACA-CA 3 185347745 185347745 single base substitution T G downstream_gene_variant PACA-CA 3 185347780 185347781 deletion of <=200bp AC - 3_prime_UTR_variant PACA-CA 3 185347780 185347781 deletion of <=200bp AC - downstream_gene_variant PACA-CA 3 185349511 185349511 single base substitution A T 3_prime_UTR_variant PACA-CA 3 185349511 185349511 single base substitution A T downstream_gene_variant PACA-CA 3 185353286 185353286 single base substitution G C downstream_gene_variant PAEN-AU 3 185308684 185308684 single base substitution G T intron_variant PAEN-AU 3 185323312 185323312 single base substitution G A downstream_gene_variant PAEN-AU 3 185323312 185323312 single base substitution G A intron_variant PAEN-AU 3 185323312 185323312 single base substitution G A upstream_gene_variant PBCA-DE 3 185298764 185298764 single base substitution C A upstream_gene_variant PBCA-DE 3 185299826 185299826 single base substitution C G upstream_gene_variant PBCA-DE 3 185306863 185306863 deletion of <=200bp T - intron_variant PBCA-DE 3 185315542 185315542 single base substitution A T intron_variant PBCA-DE 3 185315542 185315542 single base substitution A T upstream_gene_variant PBCA-DE 3 185323159 185323159 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 185323159 185323159 insertion of <=200bp - A intron_variant PBCA-DE 3 185323159 185323159 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 185341196 185341196 insertion of <=200bp - GG downstream_gene_variant PBCA-DE 3 185341196 185341196 insertion of <=200bp - GG intron_variant PBCA-DE 3 185341199 185341199 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 185341199 185341199 deletion of <=200bp A - intron_variant PBCA-DE 3 185345918 185345918 insertion of <=200bp - TTA downstream_gene_variant PBCA-DE 3 185345918 185345918 insertion of <=200bp - TTA intron_variant PBCA-DE 3 185351397 185351398 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 3 185354967 185354967 single base substitution A C downstream_gene_variant PBCA-DE 3 185355217 185355217 single base substitution G A downstream_gene_variant PBCA-DE 3 185356248 185356248 single base substitution T A downstream_gene_variant PRAD-CA 3 185327416 185327416 single base substitution A G downstream_gene_variant PRAD-CA 3 185327416 185327416 single base substitution A G intron_variant PRAD-CA 3 185327416 185327416 single base substitution A G upstream_gene_variant PRAD-CA 3 185346173 185346173 single base substitution C T downstream_gene_variant PRAD-CA 3 185346173 185346173 single base substitution C T intron_variant PRAD-UK 3 185303135 185303135 single base substitution G C intron_variant PRAD-UK 3 185303135 185303135 single base substitution G C upstream_gene_variant PRAD-UK 3 185304426 185304426 single base substitution G A intron_variant PRAD-UK 3 185311851 185311851 single base substitution C T intron_variant PRAD-UK 3 185311851 185311851 single base substitution C T upstream_gene_variant PRAD-UK 3 185323362 185323362 single base substitution C T downstream_gene_variant PRAD-UK 3 185323362 185323362 single base substitution C T intron_variant PRAD-UK 3 185323362 185323362 single base substitution C T upstream_gene_variant PRAD-UK 3 185325720 185325737 deletion of <=200bp AAGAGTCAATCTTTTTAC - downstream_gene_variant PRAD-UK 3 185325720 185325737 deletion of <=200bp AAGAGTCAATCTTTTTAC - intron_variant PRAD-UK 3 185325720 185325737 deletion of <=200bp AAGAGTCAATCTTTTTAC - upstream_gene_variant PRAD-UK 3 185338340 185338340 single base substitution C G downstream_gene_variant PRAD-UK 3 185338340 185338340 single base substitution C G intron_variant READ-US 3 185327065 185327065 single base substitution C T 3_prime_UTR_variant READ-US 3 185327065 185327065 single base substitution C T downstream_gene_variant READ-US 3 185327065 185327065 single base substitution C T exon_variant READ-US 3 185327065 185327065 single base substitution C T stop_gained R207* 619C>T READ-US 3 185327065 185327065 single base substitution C T stop_gained R217* 649C>T READ-US 3 185327065 185327065 single base substitution C T stop_gained R271* 811C>T READ-US 3 185327065 185327065 single base substitution C T stop_gained R41* 121C>T READ-US 3 185327065 185327065 single base substitution C T upstream_gene_variant READ-US 3 185337121 185337121 single base substitution G T 3_prime_UTR_variant READ-US 3 185337121 185337121 single base substitution G T downstream_gene_variant READ-US 3 185337121 185337121 single base substitution G T exon_variant READ-US 3 185337121 185337121 single base substitution G T missense_variant R250I 749G>T READ-US 3 185337121 185337121 single base substitution G T missense_variant R416I 1247G>T READ-US 3 185337121 185337121 single base substitution G T missense_variant R426I 1277G>T READ-US 3 185337121 185337121 single base substitution G T missense_variant R89I 266G>T RECA-EU 3 185317203 185317203 single base substitution G T intron_variant RECA-EU 3 185320346 185320346 single base substitution C T downstream_gene_variant RECA-EU 3 185320346 185320346 single base substitution C T intron_variant RECA-EU 3 185321350 185321350 single base substitution G C downstream_gene_variant RECA-EU 3 185321350 185321350 single base substitution G C intron_variant RECA-EU 3 185325954 185325954 single base substitution C T downstream_gene_variant RECA-EU 3 185325954 185325954 single base substitution C T intron_variant RECA-EU 3 185325954 185325954 single base substitution C T upstream_gene_variant RECA-EU 3 185330655 185330655 single base substitution G C downstream_gene_variant RECA-EU 3 185330655 185330655 single base substitution G C intron_variant RECA-EU 3 185330655 185330655 single base substitution G C upstream_gene_variant RECA-EU 3 185336966 185336966 single base substitution G C downstream_gene_variant RECA-EU 3 185336966 185336966 single base substitution G C intron_variant RECA-EU 3 185344181 185344181 single base substitution G C downstream_gene_variant RECA-EU 3 185344181 185344181 single base substitution G C missense_variant Q393H 1179G>C RECA-EU 3 185344181 185344181 single base substitution G C missense_variant Q559H 1677G>C RECA-EU 3 185344181 185344181 single base substitution G C missense_variant Q569H 1707G>C RECA-EU 3 185344181 185344181 single base substitution G C splice_region_variant RECA-EU 3 185351168 185351168 single base substitution A T 3_prime_UTR_variant RECA-EU 3 185351168 185351168 single base substitution A T downstream_gene_variant SKCA-BR 3 185296089 185296089 single base substitution A C upstream_gene_variant SKCA-BR 3 185296128 185296128 single base substitution G A upstream_gene_variant SKCA-BR 3 185297695 185297695 single base substitution C T upstream_gene_variant SKCA-BR 3 185299175 185299176 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 3 185299730 185299730 single base substitution C T upstream_gene_variant SKCA-BR 3 185299797 185299797 single base substitution C T upstream_gene_variant SKCA-BR 3 185300673 185300673 single base substitution G A intron_variant SKCA-BR 3 185300673 185300673 single base substitution G A upstream_gene_variant SKCA-BR 3 185301886 185301886 single base substitution G A intron_variant SKCA-BR 3 185301886 185301886 single base substitution G A upstream_gene_variant SKCA-BR 3 185302764 185302764 single base substitution G A intron_variant SKCA-BR 3 185302764 185302764 single base substitution G A upstream_gene_variant SKCA-BR 3 185303686 185303686 single base substitution G A intron_variant SKCA-BR 3 185303686 185303686 single base substitution G A upstream_gene_variant SKCA-BR 3 185304170 185304170 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 185304170 185304170 single base substitution T G intron_variant SKCA-BR 3 185305480 185305480 single base substitution C A intron_variant SKCA-BR 3 185307035 185307035 insertion of <=200bp - AT intron_variant SKCA-BR 3 185307700 185307700 single base substitution T C intron_variant SKCA-BR 3 185309385 185309385 single base substitution T C intron_variant SKCA-BR 3 185311516 185311519 deletion of <=200bp CTTT - intron_variant SKCA-BR 3 185314408 185314409 deletion of <=200bp CA - intron_variant SKCA-BR 3 185314408 185314409 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 3 185320003 185320003 single base substitution C T downstream_gene_variant SKCA-BR 3 185320003 185320003 single base substitution C T intron_variant SKCA-BR 3 185325117 185325117 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 3 185325117 185325117 insertion of <=200bp - TA intron_variant SKCA-BR 3 185325117 185325117 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 3 185326930 185326930 single base substitution A T downstream_gene_variant SKCA-BR 3 185326930 185326930 single base substitution A T exon_variant SKCA-BR 3 185326930 185326930 single base substitution A T intron_variant SKCA-BR 3 185326930 185326930 single base substitution A T upstream_gene_variant SKCA-BR 3 185328773 185328773 single base substitution C T downstream_gene_variant SKCA-BR 3 185328773 185328773 single base substitution C T intron_variant SKCA-BR 3 185328773 185328773 single base substitution C T upstream_gene_variant SKCA-BR 3 185328995 185328995 single base substitution T G downstream_gene_variant SKCA-BR 3 185328995 185328995 single base substitution T G intron_variant SKCA-BR 3 185328995 185328995 single base substitution T G upstream_gene_variant SKCA-BR 3 185331867 185331867 single base substitution T C downstream_gene_variant SKCA-BR 3 185331867 185331867 single base substitution T C intron_variant SKCA-BR 3 185331867 185331867 single base substitution T C upstream_gene_variant SKCA-BR 3 185332861 185332861 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 3 185332861 185332861 insertion of <=200bp - AT intron_variant SKCA-BR 3 185334563 185334563 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 185334563 185334563 insertion of <=200bp - CA intron_variant SKCA-BR 3 185339018 185339018 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 185339018 185339018 insertion of <=200bp - CA intron_variant SKCA-BR 3 185340605 185340610 deletion of <=200bp CTTTTT - downstream_gene_variant SKCA-BR 3 185340605 185340610 deletion of <=200bp CTTTTT - intron_variant SKCA-BR 3 185342901 185342901 insertion of <=200bp - AT intron_variant SKCA-BR 3 185344871 185344872 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 3 185344871 185344872 deletion of <=200bp CA - intron_variant SKCA-BR 3 185350021 185350025 deletion of <=200bp TTTTG - 3_prime_UTR_variant SKCA-BR 3 185350021 185350025 deletion of <=200bp TTTTG - downstream_gene_variant SKCA-BR 3 185352431 185352431 single base substitution G A downstream_gene_variant SKCA-BR 3 185353455 185353455 single base substitution T A downstream_gene_variant SKCA-BR 3 185354960 185354960 single base substitution A C downstream_gene_variant SKCA-BR 3 185355892 185355892 single base substitution G A downstream_gene_variant SKCM-US 3 185316753 185316753 single base substitution C T 3_prime_UTR_variant SKCM-US 3 185316753 185316753 single base substitution C T exon_variant SKCM-US 3 185316753 185316753 single base substitution C T intron_variant SKCM-US 3 185316753 185316753 single base substitution C T missense_variant S100L 299C>T SKCM-US 3 185316753 185316753 single base substitution C T missense_variant S154L 461C>T SKCM-US 3 185316753 185316753 single base substitution C T missense_variant S90L 269C>T SKCM-US 3 185318607 185318607 single base substitution C T 3_prime_UTR_variant SKCM-US 3 185318607 185318607 single base substitution C T 5_prime_UTR_variant SKCM-US 3 185318607 185318607 single base substitution C T exon_variant SKCM-US 3 185318607 185318607 single base substitution C T missense_variant T128I 383C>T SKCM-US 3 185318607 185318607 single base substitution C T missense_variant T138I 413C>T SKCM-US 3 185318607 185318607 single base substitution C T missense_variant T192I 575C>T SKCM-US 3 185330413 185330413 single base substitution G A 3_prime_UTR_variant SKCM-US 3 185330413 185330413 single base substitution G A downstream_gene_variant SKCM-US 3 185330413 185330413 single base substitution G A exon_variant SKCM-US 3 185330413 185330413 single base substitution G A missense_variant R103K 308G>A SKCM-US 3 185330413 185330413 single base substitution G A missense_variant R269K 806G>A SKCM-US 3 185330413 185330413 single base substitution G A missense_variant R279K 836G>A SKCM-US 3 185330413 185330413 single base substitution G A upstream_gene_variant SKCM-US 3 185330417 185330417 single base substitution A C 3_prime_UTR_variant SKCM-US 3 185330417 185330417 single base substitution A C downstream_gene_variant SKCM-US 3 185330417 185330417 single base substitution A C exon_variant SKCM-US 3 185330417 185330417 single base substitution A C synonymous_variant G104G 312A>C SKCM-US 3 185330417 185330417 single base substitution A C synonymous_variant G270G 810A>C SKCM-US 3 185330417 185330417 single base substitution A C synonymous_variant G280G 840A>C SKCM-US 3 185330417 185330417 single base substitution A C upstream_gene_variant SKCM-US 3 185332406 185332406 single base substitution C T 3_prime_UTR_variant SKCM-US 3 185332406 185332406 single base substitution C T downstream_gene_variant SKCM-US 3 185332406 185332406 single base substitution C T exon_variant SKCM-US 3 185332406 185332406 single base substitution C T missense_variant R154C 460C>T SKCM-US 3 185332406 185332406 single base substitution C T missense_variant R320C 958C>T SKCM-US 3 185332406 185332406 single base substitution C T missense_variant R330C 988C>T SKCM-US 3 185332406 185332406 single base substitution C T missense_variant R37C 109C>T SKCM-US 3 185337175 185337175 single base substitution C A 3_prime_UTR_variant SKCM-US 3 185337175 185337175 single base substitution C A downstream_gene_variant SKCM-US 3 185337175 185337175 single base substitution C A exon_variant SKCM-US 3 185337175 185337175 single base substitution C A missense_variant P107H 320C>A SKCM-US 3 185337175 185337175 single base substitution C A missense_variant P268H 803C>A SKCM-US 3 185337175 185337175 single base substitution C A missense_variant P434H 1301C>A SKCM-US 3 185337175 185337175 single base substitution C A missense_variant P444H 1331C>A SKCM-US 3 185337194 185337194 single base substitution T C 3_prime_UTR_variant SKCM-US 3 185337194 185337194 single base substitution T C downstream_gene_variant SKCM-US 3 185337194 185337194 single base substitution T C exon_variant SKCM-US 3 185337194 185337194 single base substitution T C synonymous_variant G113G 339T>C SKCM-US 3 185337194 185337194 single base substitution T C synonymous_variant G274G 822T>C SKCM-US 3 185337194 185337194 single base substitution T C synonymous_variant G440G 1320T>C SKCM-US 3 185337194 185337194 single base substitution T C synonymous_variant G450G 1350T>C SKCM-US 3 185339635 185339635 single base substitution T G 3_prime_UTR_variant SKCM-US 3 185339635 185339635 single base substitution T G downstream_gene_variant SKCM-US 3 185339635 185339635 single base substitution T G missense_variant C153G 457T>G SKCM-US 3 185339635 185339635 single base substitution T G missense_variant C314G 940T>G SKCM-US 3 185339635 185339635 single base substitution T G missense_variant C480G 1438T>G SKCM-US 3 185339635 185339635 single base substitution T G missense_variant C490G 1468T>G SKCM-US 3 185339666 185339666 single base substitution A G 3_prime_UTR_variant SKCM-US 3 185339666 185339666 single base substitution A G downstream_gene_variant SKCM-US 3 185339666 185339666 single base substitution A G missense_variant K163R 488A>G SKCM-US 3 185339666 185339666 single base substitution A G missense_variant K324R 971A>G SKCM-US 3 185339666 185339666 single base substitution A G missense_variant K490R 1469A>G SKCM-US 3 185339666 185339666 single base substitution A G missense_variant K500R 1499A>G SKCM-US 3 185341799 185341799 single base substitution G A 3_prime_UTR_variant SKCM-US 3 185341799 185341799 single base substitution G A downstream_gene_variant SKCM-US 3 185341799 185341799 single base substitution G A missense_variant D177N 529G>A SKCM-US 3 185341799 185341799 single base substitution G A missense_variant D338N 1012G>A SKCM-US 3 185341799 185341799 single base substitution G A missense_variant D504N 1510G>A SKCM-US 3 185341799 185341799 single base substitution G A missense_variant D514N 1540G>A SKCM-US 3 185341841 185341841 single base substitution G A 3_prime_UTR_variant SKCM-US 3 185341841 185341841 single base substitution G A downstream_gene_variant SKCM-US 3 185341841 185341841 single base substitution G A missense_variant E191K 571G>A SKCM-US 3 185341841 185341841 single base substitution G A missense_variant E352K 1054G>A SKCM-US 3 185341841 185341841 single base substitution G A missense_variant E518K 1552G>A SKCM-US 3 185341841 185341841 single base substitution G A missense_variant E528K 1582G>A STAD-US 3 185304262 185304262 insertion of <=200bp - C 5_prime_UTR_variant STAD-US 3 185304262 185304262 insertion of <=200bp - C exon_variant STAD-US 3 185304262 185304262 insertion of <=200bp - C frameshift_variant P21P? STAD-US 3 185304262 185304262 insertion of <=200bp - C intron_variant STAD-US 3 185318608 185318608 single base substitution C A 3_prime_UTR_variant STAD-US 3 185318608 185318608 single base substitution C A 5_prime_UTR_variant STAD-US 3 185318608 185318608 single base substitution C A exon_variant STAD-US 3 185318608 185318608 single base substitution C A synonymous_variant T128T 384C>A STAD-US 3 185318608 185318608 single base substitution C A synonymous_variant T138T 414C>A STAD-US 3 185318608 185318608 single base substitution C A synonymous_variant T192T 576C>A STAD-US 3 185324165 185324165 single base substitution G A 3_prime_UTR_variant STAD-US 3 185324165 185324165 single base substitution G A 5_prime_UTR_variant STAD-US 3 185324165 185324165 single base substitution G A exon_variant STAD-US 3 185324165 185324165 single base substitution G A missense_variant R156H 467G>A STAD-US 3 185324165 185324165 single base substitution G A missense_variant R166H 497G>A STAD-US 3 185324165 185324165 single base substitution G A missense_variant R220H 659G>A STAD-US 3 185324165 185324165 single base substitution G A upstream_gene_variant STAD-US 3 185335332 185335332 single base substitution C T 3_prime_UTR_variant STAD-US 3 185335332 185335332 single base substitution C T downstream_gene_variant STAD-US 3 185335332 185335332 single base substitution C T exon_variant STAD-US 3 185335332 185335332 single base substitution C T intron_variant STAD-US 3 185335332 185335332 single base substitution C T missense_variant A216V 647C>T STAD-US 3 185335332 185335332 single base substitution C T missense_variant A382V 1145C>T STAD-US 3 185335332 185335332 single base substitution C T missense_variant A392V 1175C>T STAD-US 3 185347619 185347619 single base substitution A C 3_prime_UTR_variant STAD-US 3 185347619 185347619 single base substitution A C downstream_gene_variant STAD-US 3 185347619 185347619 single base substitution A C missense_variant Q410P 1229A>C STAD-US 3 185347619 185347619 single base substitution A C missense_variant Q576P 1727A>C STAD-US 3 185347619 185347619 single base substitution A C missense_variant Q586P 1757A>C THCA-SA 3 185331165 185331165 single base substitution C A 3_prime_UTR_variant THCA-SA 3 185331165 185331165 single base substitution C A downstream_gene_variant THCA-SA 3 185331165 185331165 single base substitution C A exon_variant THCA-SA 3 185331165 185331165 single base substitution C A missense_variant T125K 374C>A THCA-SA 3 185331165 185331165 single base substitution C A missense_variant T291K 872C>A THCA-SA 3 185331165 185331165 single base substitution C A missense_variant T301K 902C>A THCA-SA 3 185331165 185331165 single base substitution C A missense_variant T8K 23C>A THCA-SA 3 185331165 185331165 single base substitution C A upstream_gene_variant THCA-SA 3 185348351 185348351 single base substitution T C 3_prime_UTR_variant THCA-SA 3 185348351 185348351 single base substitution T C downstream_gene_variant THCA-SA 3 185348402 185348402 single base substitution C T 3_prime_UTR_variant THCA-SA 3 185348402 185348402 single base substitution C T downstream_gene_variant THCA-US 3 185337150 185337150 deletion of <=200bp C - 3_prime_UTR_variant THCA-US 3 185337150 185337150 deletion of <=200bp C - downstream_gene_variant THCA-US 3 185337150 185337150 deletion of <=200bp C - exon_variant THCA-US 3 185337150 185337150 deletion of <=200bp C - frameshift_variant H260 THCA-US 3 185337150 185337150 deletion of <=200bp C - frameshift_variant H426 THCA-US 3 185337150 185337150 deletion of <=200bp C - frameshift_variant H436 THCA-US 3 185337150 185337150 deletion of <=200bp C - frameshift_variant H99 UCEC-US 3 185304233 185304233 single base substitution C A 5_prime_UTR_variant UCEC-US 3 185304233 185304233 single base substitution C A exon_variant UCEC-US 3 185304233 185304233 single base substitution C A intron_variant UCEC-US 3 185304233 185304233 single base substitution C A missense_variant T11N 32C>A UCEC-US 3 185307946 185307946 single base substitution G T 5_prime_UTR_variant UCEC-US 3 185307946 185307946 single base substitution G T exon_variant UCEC-US 3 185307946 185307946 single base substitution G T missense_variant R103I 308G>T UCEC-US 3 185307946 185307946 single base substitution G T missense_variant R39I 116G>T UCEC-US 3 185307946 185307946 single base substitution G T missense_variant R49I 146G>T UCEC-US 3 185316754 185316754 single base substitution G A 3_prime_UTR_variant UCEC-US 3 185316754 185316754 single base substitution G A exon_variant UCEC-US 3 185316754 185316754 single base substitution G A intron_variant UCEC-US 3 185316754 185316754 single base substitution G A synonymous_variant S100S 300G>A UCEC-US 3 185316754 185316754 single base substitution G A synonymous_variant S154S 462G>A UCEC-US 3 185316754 185316754 single base substitution G A synonymous_variant S90S 270G>A UCEC-US 3 185318562 185318562 single base substitution C A 3_prime_UTR_variant UCEC-US 3 185318562 185318562 single base substitution C A 5_prime_UTR_variant UCEC-US 3 185318562 185318562 single base substitution C A exon_variant UCEC-US 3 185318562 185318562 single base substitution C A missense_variant S113Y 338C>A UCEC-US 3 185318562 185318562 single base substitution C A missense_variant S123Y 368C>A UCEC-US 3 185318562 185318562 single base substitution C A missense_variant S177Y 530C>A UCEC-US 3 185318610 185318610 single base substitution G A 3_prime_UTR_variant UCEC-US 3 185318610 185318610 single base substitution G A 5_prime_UTR_variant UCEC-US 3 185318610 185318610 single base substitution G A exon_variant UCEC-US 3 185318610 185318610 single base substitution G A missense_variant R129Q 386G>A UCEC-US 3 185318610 185318610 single base substitution G A missense_variant R139Q 416G>A UCEC-US 3 185318610 185318610 single base substitution G A missense_variant R193Q 578G>A UCEC-US 3 185327066 185327066 single base substitution G A 3_prime_UTR_variant UCEC-US 3 185327066 185327066 single base substitution G A downstream_gene_variant UCEC-US 3 185327066 185327066 single base substitution G A exon_variant UCEC-US 3 185327066 185327066 single base substitution G A missense_variant R207Q 620G>A UCEC-US 3 185327066 185327066 single base substitution G A missense_variant R217Q 650G>A UCEC-US 3 185327066 185327066 single base substitution G A missense_variant R271Q 812G>A UCEC-US 3 185327066 185327066 single base substitution G A missense_variant R41Q 122G>A UCEC-US 3 185327066 185327066 single base substitution G A upstream_gene_variant UCEC-US 3 185327081 185327081 single base substitution G A 3_prime_UTR_variant UCEC-US 3 185327081 185327081 single base substitution G A downstream_gene_variant UCEC-US 3 185327081 185327081 single base substitution G A exon_variant UCEC-US 3 185327081 185327081 single base substitution G A missense_variant R212Q 635G>A UCEC-US 3 185327081 185327081 single base substitution G A missense_variant R222Q 665G>A UCEC-US 3 185327081 185327081 single base substitution G A missense_variant R46Q 137G>A UCEC-US 3 185327081 185327081 single base substitution G A upstream_gene_variant UCEC-US 3 185330447 185330447 single base substitution G A downstream_gene_variant UCEC-US 3 185330447 185330447 single base substitution G A splice_donor_variant UCEC-US 3 185330447 185330447 single base substitution G A upstream_gene_variant UCEC-US 3 185332471 185332471 single base substitution G T 3_prime_UTR_variant UCEC-US 3 185332471 185332471 single base substitution G T downstream_gene_variant UCEC-US 3 185332471 185332471 single base substitution G T exon_variant UCEC-US 3 185332471 185332471 single base substitution G T missense_variant K175N 525G>T UCEC-US 3 185332471 185332471 single base substitution G T missense_variant K341N 1023G>T UCEC-US 3 185332471 185332471 single base substitution G T missense_variant K351N 1053G>T UCEC-US 3 185332471 185332471 single base substitution G T missense_variant K58N 174G>T UCEC-US 3 185332506 185332506 single base substitution A G 3_prime_UTR_variant UCEC-US 3 185332506 185332506 single base substitution A G downstream_gene_variant UCEC-US 3 185332506 185332506 single base substitution A G exon_variant UCEC-US 3 185332506 185332506 single base substitution A G missense_variant D187G 560A>G UCEC-US 3 185332506 185332506 single base substitution A G missense_variant D353G 1058A>G UCEC-US 3 185332506 185332506 single base substitution A G missense_variant D363G 1088A>G UCEC-US 3 185332506 185332506 single base substitution A G missense_variant D70G 209A>G UCEC-US 3 185335320 185335320 single base substitution T C 3_prime_UTR_variant UCEC-US 3 185335320 185335320 single base substitution T C downstream_gene_variant UCEC-US 3 185335320 185335320 single base substitution T C exon_variant UCEC-US 3 185335320 185335320 single base substitution T C intron_variant UCEC-US 3 185335320 185335320 single base substitution T C missense_variant I212T 635T>C UCEC-US 3 185335320 185335320 single base substitution T C missense_variant I378T 1133T>C UCEC-US 3 185335320 185335320 single base substitution T C missense_variant I388T 1163T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM1042245 c.869+1G>A p.? Unknown 3:185612659-185612659 + ccRCC-40 COSM1664091 c.261T>G p.N87K Substitution - Missense 3:185598515-185598515 + TCGA-CD-A48A-01 COSM4115892 c.497G>A p.R166H Substitution - Missense 3:185606377-185606377 + YUFIT COSM222014 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + TCGA-D3-A2JD-06 COSM3590918 c.1331C>A p.P444H Substitution - Missense 3:185619387-185619387 + CSCC-44-T COSM4447086 c.870-3T>G p.? Unknown 3:185613342-185613342 + TCGA-EE-A3AA-06 COSM222015 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + HCC2998 COSM1670762 c.1559G>T p.R520I Substitution - Missense 3:185624030-185624030 + TCGA-EP-A2KA-01 COSM4917465 c.172C>A p.Q58K Substitution - Missense 3:185598426-185598426 + 1_RESISTANT COSM1720378 c.299C>G p.S100W Substitution - Missense 3:185598965-185598965 + GC_289T-GC_289N COSM4772423 c.1149C>T p.G383G Substitution - coding silent 3:185617518-185617518 + 005-0015-01TD COSM146223 c.1446+1G>A p.? Unknown 3:185619503-185619503 + CSCC-20-T COSM4554821 c.631G>T p.E211* Substitution - Nonsense 3:185609259-185609259 + TCGA-BS-A0UF-01 COSM1042241 c.665G>A p.R222Q Substitution - Missense 3:185609293-185609293 + TCGA-DA-A1HV-06 COSM3590926 c.1540G>A p.D514N Substitution - Missense 3:185624011-185624011 + TCGA-AP-A0LG-01 COSM1042228 c.32C>A p.T11N Substitution - Missense 3:185586445-185586445 + pfg068T COSM4764128 c.1382T>C p.V461A Substitution - Missense 3:185619438-185619438 + BD124T COSM5491754 c.869+4C>T p.? Unknown 3:185612662-185612662 + 005 COSM146224 c.1446+1G>A p.? Unknown 3:185619503-185619503 + SC_9008 COSM5549978 c.140C>G p.A47G Substitution - Missense 3:185590152-185590152 + TCGA-BS-A0UV-01 COSM1042246 c.1053G>T p.K351N Substitution - Missense 3:185614683-185614683 + TCGA-D1-A17Q-01 COSM1042231 c.146G>T p.R49I Substitution - Missense 3:185590158-185590158 + HCC105 COSM1617288 c.1574A>G p.N525S Substitution - Missense 3:185624045-185624045 + 783_T COSM3945246 c.1362G>A p.V454V Substitution - coding silent 3:185619418-185619418 + SNUH_G76_S1 COSM3759918 c.902C>A p.T301K Substitution - Missense 3:185613377-185613377 + NCI-H322M COSM1195054 c.640G>C p.E214Q Substitution - Missense 3:185609268-185609268 + TCGA-HU-A4G8-01 COSM4115889 c.414C>A p.T138T Substitution - coding silent 3:185600820-185600820 + TCGA-AX-A05Z-01 COSM1042234 c.300G>A p.S100S Substitution - coding silent 3:185598966-185598966 + TCGA-DC-6154-01 COSM3427411 c.649C>T p.R217* Substitution - Nonsense 3:185609277-185609277 + TCGA-F5-6814-01 COSM3427414 c.1277G>T p.R426I Substitution - Missense 3:185619333-185619333 + TCGA-66-2786-01 COSM730130 c.340A>G p.N114D Substitution - Missense 3:185599006-185599006 + TCGA-AX-A05Z-01 COSM1042233 c.300G>A p.S100S Substitution - coding silent 3:185598966-185598966 + TCGA-D7-6521-01 COSM4115894 c.1175C>T p.A392V Substitution - Missense 3:185617544-185617544 + TCGA-FW-A3R5-06 COSM3915516 c.413C>T p.T138I Substitution - Missense 3:185600819-185600819 + ESCC_15 COSM5625668 c.1489A>G p.M497V Substitution - Missense 3:185621868-185621868 + 2557_CLM COSM5756233 c.1235A>T p.N412I Substitution - Missense 3:185617604-185617604 + HN_62854 COSM126083 c.642G>C p.E214D Substitution - Missense 3:185609270-185609270 + TCGA-BS-A0UF-01 COSM1042237 c.416G>A p.R139Q Substitution - Missense 3:185600822-185600822 + PT08_2 COSM5894333 c.1528C>T p.Q510* Substitution - Nonsense 3:185623999-185623999 + LAU50_1 COSM234097 c.870-6C>T p.? Unknown 3:185613339-185613339 + TCGA-FS-A1YX-06 COSM3590924 c.1499A>G p.K500R Substitution - Missense 3:185621878-185621878 + RK056_C01 COSM1633040 c.768G>A p.G256G Substitution - coding silent 3:185611696-185611696 + PCSI_0594_Pa_P_526 COSM5761102 c.1493G>A p.G498E Substitution - Missense 3:185621872-185621872 + LC_S15 COSM1186474 c.733A>G p.S245G Substitution - Missense 3:185611661-185611661 + HCC2998 COSM1670763 c.1559G>T p.R520I Substitution - Missense 3:185624030-185624030 + PTC-28C COSM4157486 c.1273G>A p.E425K Substitution - Missense 3:185619329-185619329 + HCC2998 COSM1670762 c.1559G>T p.R520I Substitution - Missense 3:185624030-185624030 + CSCC-20-T COSM4451223 c.1112A>C p.D371A Substitution - Missense 3:185617481-185617481 + TCGA-BS-A0UF-01 COSM1042242 c.665G>A p.R222Q Substitution - Missense 3:185609293-185609293 + TCGA-20-1683-01 COSM1327665 c.596G>A p.R199H Substitution - Missense 3:185606476-185606476 + B106 COSM1753064 c.898G>A p.E300K Substitution - Missense 3:185613373-185613373 + HCC105T COSM1617288 c.1574A>G p.N525S Substitution - Missense 3:185624045-185624045 + RK119_C01 COSM222015 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + 1_RESISTANT COSM1720377 c.299C>G p.S100W Substitution - Missense 3:185598965-185598965 + KPOPBR-03-T COSM5965213 c.1628T>C p.L543P Substitution - Missense 3:185626314-185626314 + TCGA-EB-A553-01 COSM3590921 c.1468T>G p.C490G Substitution - Missense 3:185621847-185621847 + TCGA-B5-A0JY-01 COSM1042240 c.650G>A p.R217Q Substitution - Missense 3:185609278-185609278 + TCGA-AN-A046-01 COSM284890 c.1090G>A p.D364N Substitution - Missense 3:185614720-185614720 + TCGA-CM-6675-01 COSM1421452 c.977C>T p.S326L Substitution - Missense 3:185614607-185614607 + TCGA-P5-A5EZ-01 COSM4420571 c.352A>G p.K118E Substitution - Missense 3:185599018-185599018 + PASFXA COSM5006017 c.1732A>G p.K578E Substitution - Missense 3:185629806-185629806 + PTC-28C COSM4157487 c.1273G>A p.E425K Substitution - Missense 3:185619329-185619329 + MO_1012 COSM5556445 c.783C>T p.H261H Substitution - coding silent 3:185611711-185611711 + TCGA-B2-3924-01 COSM479811 c.306T>C p.S102S Substitution - coding silent 3:185598972-185598972 + ESCC-250T COSM3940434 c.427C>T p.R143C Substitution - Missense 3:185600833-185600833 + pfg068T COSM4764127 c.1382T>C p.V461A Substitution - Missense 3:185619438-185619438 + T2932 COSM4724849 c.1640A>G p.D547G Substitution - Missense 3:185626326-185626326 + PD5934a COSM5771778 c.1531T>C p.Y511H Substitution - Missense 3:185624002-185624002 + TCGA-CK-5916-01 COSM1421451 c.764delG p.E257fs*29 Deletion - Frameshift 3:185611692-185611692 + 2497781 COSM3331989 c.811A>G p.K271E Substitution - Missense 3:185611739-185611739 + T3152 COSM4724847 c.1345delG p.G450fs*5 Deletion - Frameshift 3:185619401-185619401 + ESCC-250T COSM3940435 c.427C>T p.R143C Substitution - Missense 3:185600833-185600833 + TCGA-20-1683-01 COSM1327666 c.596G>A p.R199H Substitution - Missense 3:185606476-185606476 + TCGA-F5-6814-01 COSM3427413 c.1277G>T p.R426I Substitution - Missense 3:185619333-185619333 + RK135_C01 COSM3767347 c.839G>C p.G280A Substitution - Missense 3:185612628-185612628 + TCGA-AP-A0LM-01 COSM1042236 c.368C>A p.S123Y Substitution - Missense 3:185600774-185600774 + TCGA-AA-A010-01 COSM299498 c.1708-8C>A p.? Unknown 3:185629774-185629774 + HCC009T COSM5819872 c.173A>T p.Q58L Substitution - Missense 3:185598427-185598427 + BD124T COSM5491753 c.869+4C>T p.? Unknown 3:185612662-185612662 + 1_PRE-TREATMENT COSM1720377 c.299C>G p.S100W Substitution - Missense 3:185598965-185598965 + TCGA-BC-A217-01 COSM4936914 c.385G>A p.D129N Substitution - Missense 3:185600791-185600791 + KPOPBR-03-T COSM5965212 c.1628T>C p.L543P Substitution - Missense 3:185626314-185626314 + ESO-0009 COSM1265255 c.1150C>T p.P384S Substitution - Missense 3:185617519-185617519 + B103 COSM1753065 c.1389C>A p.L463L Substitution - coding silent 3:185619445-185619445 + BD72T COSM5511971 c.846A>G p.L282L Substitution - coding silent 3:185612635-185612635 + B106-Tumor COSM1753063 c.898G>A p.E300K Substitution - Missense 3:185613373-185613373 + TCGA-46-3768-01 COSM730132 c.204C>T p.S68S Substitution - coding silent 3:185598458-185598458 + PD6047a COSM5788498 c.608C>T p.T203I Substitution - Missense 3:185606488-185606488 + HCC009T COSM5819873 c.173A>T p.Q58L Substitution - Missense 3:185598427-185598427 + TCGA-EE-A20C-06 COSM3590915 c.840A>C p.G280G Substitution - coding silent 3:185612629-185612629 + LAU50_2 COSM234097 c.870-6C>T p.? Unknown 3:185613339-185613339 + B106-Tumor COSM1753064 c.898G>A p.E300K Substitution - Missense 3:185613373-185613373 + TCGA-CD-A48A-01 COSM4115891 c.497G>A p.R166H Substitution - Missense 3:185606377-185606377 + TCGA-22-5473-01 COSM730127 c.1731G>C p.K577N Substitution - Missense 3:185629805-185629805 + TCGA-EE-A2MS-06 COSM3590911 c.299C>T p.S100L Substitution - Missense 3:185598965-185598965 + TCGA-CM-6675-01 COSM1421453 c.977C>T p.S326L Substitution - Missense 3:185614607-185614607 + SNUH_G76_S1 COSM3759917 c.902C>A p.T301K Substitution - Missense 3:185613377-185613377 + 005 COSM146223 c.1446+1G>A p.? Unknown 3:185619503-185619503 + T3152 COSM4724846 c.1345delG p.G450fs*5 Deletion - Frameshift 3:185619401-185619401 + TCGA-AA-3811-01 COSM5109546 c.80T>A p.L27Q Substitution - Missense 3:185586493-185586493 + LUAD-RT-S01813 COSM383379 c.601C>T p.H201Y Substitution - Missense 3:185606481-185606481 + TCGA-HU-A4G8-01 COSM4115890 c.414C>A p.T138T Substitution - coding silent 3:185600820-185600820 + TCGA-EE-A3J8-06 COSM3590913 c.836G>A p.R279K Substitution - Missense 3:185612625-185612625 + TCGA-FW-A3R5-06 COSM3915515 c.413C>T p.T138I Substitution - Missense 3:185600819-185600819 + ME002T COSM222014 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + TCGA-D1-A163-01 COSM1042237 c.416G>A p.R139Q Substitution - Missense 3:185600822-185600822 + LP6005935-DNA_D01 COSM5034742 c.1714A>T p.M572L Substitution - Missense 3:185629788-185629788 + CSCC-44-T COSM4447085 c.870-3T>G p.? Unknown 3:185613342-185613342 + TCGA-EK-A2RJ-01 COSM4831943 c.799C>G p.Q267E Substitution - Missense 3:185611727-185611727 + 2497781 COSM3331990 c.811A>G p.K271E Substitution - Missense 3:185611739-185611739 + GC_289T-GC_289N COSM4772422 c.1149C>T p.G383G Substitution - coding silent 3:185617518-185617518 + TCGA-AP-A0LG-01 COSM1042230 c.32C>A p.T11N Substitution - Missense 3:185586445-185586445 + STC232 COSM1421451 c.764delG p.E257fs*29 Deletion - Frameshift 3:185611692-185611692 + RK119_C01 COSM222014 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + TCGA-D1-A17Q-01 COSM1042232 c.146G>T p.R49I Substitution - Missense 3:185590158-185590158 + TCGA-A6-6140-01 COSM3759917 c.902C>A p.T301K Substitution - Missense 3:185613377-185613377 + PTC-28C COSM4157484 c.1272G>A p.V424V Substitution - coding silent 3:185619328-185619328 + CSCC-29-T COSM4490895 c.370C>T p.P124S Substitution - Missense 3:185600776-185600776 + TCGA-EE-A181-06 COSM3590927 c.1582G>A p.E528K Substitution - Missense 3:185624053-185624053 + 88177 COSM95236 c.339G>T p.W113C Substitution - Missense 3:185599005-185599005 + B103 COSM1753066 c.1389C>A p.L463L Substitution - coding silent 3:185619445-185619445 + LUAD-RT-S01813 COSM383380 c.601C>T p.H201Y Substitution - Missense 3:185606481-185606481 + 86319 COSM95237 c.1619C>T p.P540L Substitution - Missense 3:185626305-185626305 + TCGA-DC-6154-01 COSM3427412 c.649C>T p.R217* Substitution - Nonsense 3:185609277-185609277 + TCGA-FS-A1YX-06 COSM3590923 c.1499A>G p.K500R Substitution - Missense 3:185621878-185621878 + T3202 COSM4724845 c.1005C>A p.S335R Substitution - Missense 3:185614635-185614635 + TCGA-EE-A181-06 COSM3590928 c.1582G>A p.E528K Substitution - Missense 3:185624053-185624053 + TCGA-AC-A23H-01 COSM3846920 c.84G>A p.K28K Substitution - coding silent 3:185586497-185586497 + TCGA-AA-A010-01 COSM299499 c.1708-8C>A p.? Unknown 3:185629774-185629774 + TCGA-BR-4184-01 COSM4115895 c.1757A>C p.Q586P Substitution - Missense 3:185629831-185629831 + TCGA-DR-A0ZM-01 COSM460833 c.1207C>G p.Q403E Substitution - Missense 3:185617576-185617576 + TCGA-EB-A553-01 COSM3590922 c.1468T>G p.C490G Substitution - Missense 3:185621847-185621847 + ME002T COSM222015 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + PASFXA COSM5006018 c.1732A>G p.K578E Substitution - Missense 3:185629806-185629806 + BD72T COSM5511972 c.846A>G p.L282L Substitution - coding silent 3:185612635-185612635 + RK056_C01 COSM1633039 c.768G>A p.G256G Substitution - coding silent 3:185611696-185611696 + H322T COSM1195054 c.640G>C p.E214Q Substitution - Missense 3:185609268-185609268 + TCGA-EE-A3AA-06 COSM222014 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + PD6047a COSM5788499 c.608C>T p.T203I Substitution - Missense 3:185606488-185606488 + 2557_CLM COSM5756234 c.1235A>T p.N412I Substitution - Missense 3:185617604-185617604 + HCC105T COSM1617289 c.1574A>G p.N525S Substitution - Missense 3:185624045-185624045 + TCGA-EE-A2MS-06 COSM3590912 c.299C>T p.S100L Substitution - Missense 3:185598965-185598965 + HCC2998 COSM1670763 c.1559G>T p.R520I Substitution - Missense 3:185624030-185624030 + TCGA-EE-A2MS-06 COSM3590920 c.1350T>C p.G450G Substitution - coding silent 3:185619406-185619406 + C0039T COSM4153044 c.1707G>C p.Q569H Substitution - Missense 3:185626393-185626393 + T3202 COSM4724844 c.1005C>A p.S335R Substitution - Missense 3:185614635-185614635 + TCGA-JW-A5VL-01 COSM4847078 c.1629G>C p.L543L Substitution - coding silent 3:185626315-185626315 + TCGA-D1-A17Q-01 COSM1042250 c.1163T>C p.I388T Substitution - Missense 3:185617532-185617532 + MO_1012 COSM5556446 c.783C>T p.H261H Substitution - coding silent 3:185611711-185611711 + TCGA-AN-A046-01 COSM284889 c.1090G>A p.D364N Substitution - Missense 3:185614720-185614720 + C0039T COSM4153043 c.1707G>C p.Q569H Substitution - Missense 3:185626393-185626393 + TCGA-B5-A0JY-01 COSM1042239 c.650G>A p.R217Q Substitution - Missense 3:185609278-185609278 + TCGA-EE-A3J8-06 COSM3590914 c.836G>A p.R279K Substitution - Missense 3:185612625-185612625 + PCSI_0594_Pa_P_526 COSM5761103 c.1493G>A p.G498E Substitution - Missense 3:185621872-185621872 + PD5934a COSM5771779 c.1531T>C p.Y511H Substitution - Missense 3:185624002-185624002 + ESCC_15 COSM5625669 c.1489A>G p.M497V Substitution - Missense 3:185621868-185621868 + TCGA-BS-A0UF-01 COSM1042238 c.416G>A p.R139Q Substitution - Missense 3:185600822-185600822 + TCGA-AC-A23H-01 COSM3846921 c.84G>A p.K28K Substitution - coding silent 3:185586497-185586497 + 1_PRE-TREATMENT COSM1720378 c.299C>G p.S100W Substitution - Missense 3:185598965-185598965 + TCGA-DD-A4NE-01 COSM4940863 c.994G>C p.G332R Substitution - Missense 3:185614624-185614624 + TCGA-BS-A0UA-01 COSM1042237 c.416G>A p.R139Q Substitution - Missense 3:185600822-185600822 + PT08_2 COSM5894332 c.1528C>T p.Q510* Substitution - Nonsense 3:185623999-185623999 + TCGA-21-1077-01 COSM730131 c.268C>T p.R90W Substitution - Missense 3:185598522-185598522 + TCGA-D1-A17Q-01 COSM1042251 c.1163T>C p.I388T Substitution - Missense 3:185617532-185617532 + CSCC-20-T COSM4451222 c.1112A>C p.D371A Substitution - Missense 3:185617481-185617481 + ESCC_30 COSM5627668 c.196G>A p.A66T Substitution - Missense 3:185598450-185598450 + TCGA-DD-A4NE-01 COSM4940862 c.994G>C p.G332R Substitution - Missense 3:185614624-185614624 + TCGA-AP-A0LM-01 COSM1042243 c.869+1G>A p.? Unknown 3:185612659-185612659 + LAU50_1 COSM234096 c.870-6C>T p.? Unknown 3:185613339-185613339 + B103-Tumor COSM1753066 c.1389C>A p.L463L Substitution - coding silent 3:185619445-185619445 + TCGA-BR-4184-01 COSM4115896 c.1757A>C p.Q586P Substitution - Missense 3:185629831-185629831 + TCGA-D3-A2JD-06 COSM3590917 c.1331C>A p.P444H Substitution - Missense 3:185619387-185619387 + ESCC_30 COSM5627667 c.196G>A p.A66T Substitution - Missense 3:185598450-185598450 + HCC105 COSM1617289 c.1574A>G p.N525S Substitution - Missense 3:185624045-185624045 + LC_S15 COSM1186475 c.733A>G p.S245G Substitution - Missense 3:185611661-185611661 + CSCC-20-T COSM4554820 c.631G>T p.E211* Substitution - Nonsense 3:185609259-185609259 + ccRCC-40 COSM1664092 c.261T>G p.N87K Substitution - Missense 3:185598515-185598515 + TCGA-EE-A20C-06 COSM3590916 c.840A>C p.G280G Substitution - coding silent 3:185612629-185612629 + TCGA-JW-A5VL-01 COSM4847079 c.1629G>C p.L543L Substitution - coding silent 3:185626315-185626315 + STC232 COSM1421450 c.764delG p.E257fs*29 Deletion - Frameshift 3:185611692-185611692 + TCGA-CK-5916-01 COSM1421450 c.764delG p.E257fs*29 Deletion - Frameshift 3:185611692-185611692 + ccRCC-31 COSM1664094 c.1445T>A p.V482E Substitution - Missense 3:185619501-185619501 + SC_9008 COSM5549977 c.140C>G p.A47G Substitution - Missense 3:185590152-185590152 + YUDEDE COSM1693909 c.328T>C p.S110P Substitution - Missense 3:185598994-185598994 + TCGA-BS-A0UV-01 COSM1042247 c.1053G>T p.K351N Substitution - Missense 3:185614683-185614683 + 005-0015-01TD COSM146224 c.1446+1G>A p.? Unknown 3:185619503-185619503 + YUDEDE COSM1693908 c.328T>C p.S110P Substitution - Missense 3:185598994-185598994 + TCGA-22-4591-01 COSM730129 c.1389C>G p.L463L Substitution - coding silent 3:185619445-185619445 + TCGA-BS-A0UA-01 COSM1042238 c.416G>A p.R139Q Substitution - Missense 3:185600822-185600822 + TCGA-AA-A010-01 COSM284889 c.1090G>A p.D364N Substitution - Missense 3:185614720-185614720 + ESO-0009 COSM1265254 c.1150C>T p.P384S Substitution - Missense 3:185617519-185617519 + LAU50_2 COSM234096 c.870-6C>T p.? Unknown 3:185613339-185613339 + TCGA-D1-A163-01 COSM1042248 c.1088A>G p.D363G Substitution - Missense 3:185614718-185614718 + LP6005935-DNA_D01 COSM5034743 c.1714A>T p.M572L Substitution - Missense 3:185629788-185629788 + TCGA-AA-A010-01 COSM284890 c.1090G>A p.D364N Substitution - Missense 3:185614720-185614720 + TCGA-EE-A2MS-06 COSM3590919 c.1350T>C p.G450G Substitution - coding silent 3:185619406-185619406 + PTC-28C COSM4157485 c.1272G>A p.V424V Substitution - coding silent 3:185619328-185619328 + 8665_CLM COSM5756230 c.233C>T p.T78I Substitution - Missense 3:185598487-185598487 + NCI-H322M COSM1670761 c.640G>C p.E214Q Substitution - Missense 3:185609268-185609268 + TCGA-EK-A2RJ-01 COSM4831944 c.799C>G p.Q267E Substitution - Missense 3:185611727-185611727 + 8665_CLM COSM5756231 c.233C>T p.T78I Substitution - Missense 3:185598487-185598487 + TCGA-AO-A03M-01 COSM730129 c.1389C>G p.L463L Substitution - coding silent 3:185619445-185619445 + TCGA-D7-6521-01 COSM4115893 c.1175C>T p.A392V Substitution - Missense 3:185617544-185617544 + B106 COSM1753063 c.898G>A p.E300K Substitution - Missense 3:185613373-185613373 + TCGA-BC-A217-01 COSM4936913 c.385G>A p.D129N Substitution - Missense 3:185600791-185600791 + TCGA-DA-A1HV-06 COSM3590925 c.1540G>A p.D514N Substitution - Missense 3:185624011-185624011 + TCGA-AO-A03M-01 COSM3846922 c.1389C>G p.L463L Substitution - coding silent 3:185619445-185619445 + TCGA-A6-6140-01 COSM3759918 c.902C>A p.T301K Substitution - Missense 3:185613377-185613377 + YUFIT COSM222015 c.988C>T p.R330C Substitution - Missense 3:185614618-185614618 + TCGA-46-3768-01 COSM730133 c.204C>T p.S68S Substitution - coding silent 3:185598458-185598458 + TCGA-AP-A0LM-01 COSM1042235 c.368C>A p.S123Y Substitution - Missense 3:185600774-185600774 + RK135_C01 COSM3767346 c.839G>C p.G280A Substitution - Missense 3:185612628-185612628 + CSCC-29-T COSM4490896 c.370C>T p.P124S Substitution - Missense 3:185600776-185600776 + 783_T COSM3945245 c.1362G>A p.V454V Substitution - coding silent 3:185619418-185619418 + ccRCC-31 COSM1664093 c.1445T>A p.V482E Substitution - Missense 3:185619501-185619501 + TCGA-AA-3811-01 COSM5109545 c.80T>A p.L27Q Substitution - Missense 3:185586493-185586493 + B103-Tumor COSM1753065 c.1389C>A p.L463L Substitution - coding silent 3:185619445-185619445 + T2932 COSM4724848 c.1640A>G p.D547G Substitution - Missense 3:185626326-185626326 + TCGA-EP-A2KA-01 COSM4917464 c.172C>A p.Q58K Substitution - Missense 3:185598426-185598426 + TCGA-P5-A5EZ-01 COSM4420570 c.352A>G p.K118E Substitution - Missense 3:185599018-185599018 + TCGA-22-5473-01 COSM730128 c.1731G>C p.K577N Substitution - Missense 3:185629805-185629805 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.401325;Hs.401388 3q27.2 608261

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G280G c.840A>C 3 185330417 CM A G Missense p.D363G c.1088A>G 3 185332506 UCEC A G Missense p.H570R c.1709A>G 3 185347571 LUAD A G Missense p.K500R c.1499A>G 3 185339666 CM A G Missense p.N114D c.340A>G 3 185316794 LUSC A T 3-UTRSNV . c.1767+1818A>T 3 185349447 HC A T 3-UTRSNV . c.1767+2350A>T 3 185349979 HC A T Missense p.H478L c.1433A>T 3 185337277 CM A T Nonsense p.R520* c.1558A>T 3 185341817 LUAD C A Missense p.H537Q c.1611C>A 3 185341870 BRCA C A Missense p.T11N c.32C>A 3 185304233 UCEC C A Missense p.T278K c.833C>A 3 185330410 CM CC AA Missense p.H531N c.1590_1591delinsAA 3 185341849 CM CC TT Missense p.A47V c.140_141delinsTT 3 185307940 CM C G Synonymous p.L463L c.1389C>G 3 185337233 LUSC C T IntronicSNV . c.723-23C>T 3 185329416 CM C T Missense p.A392V c.1175C>T 3 185335332 STAD C T Missense p.A66V c.197C>T 3 185316239 HNSC C T Missense p.H240Y c.718C>T 3 185327134 CM C T Missense p.P384S c.1150C>T 3 185335307 ESCA C T Missense p.R330C c.988C>T 3 185332406 CM C T Missense p.R90W c.268C>T 3 185316310 LUSC C T Missense p.S100L c.299C>T 3 185316753 CM C T Nonsense p.Q586* c.1756C>T 3 185347618 HNSC C T Synonymous p.S68S c.204C>T 3 185316246 LUSC G A 3-UTRSNV . c.1767+3078G>A 3 185350707 DLBCL G A Missense p.D514N c.1540G>A 3 185341799 CM G A Missense p.E528K c.1582G>A 3 185341841 CM G A Missense p.R139Q c.416G>A 3 185318610 UCEC G A Missense p.R279K c.836G>A 3 185330413 CM G A SpliceDonorSNV . c.1446+1G>A 3 185337291 CLL G A Synonymous p.G256G c.768G>A 3 185329484 HC G C Missense p.E214D c.642G>C 3 185327058 HNSC G C Missense p.K577N c.1731G>C 3 185347593 LUSC GG TT MultiAAMissense p.K293_G294delinsNW c.879_880delinsTT 3 185331142 CM GG TT SpliceDonorBlockSubstitution . c.357_358delinsTT 3 185316811 CM T A IntronicSNV . c.102-21T>A 3 185307881 STAD T C IntronicSNV . c.450-632T>C 3 185323486 CLL T C IntronicSNV . c.818-153T>C 3 185330242 CM T C Missense p.F268L c.802T>C 3 185329518 LUAD T C Missense p.F575L c.1723T>C 3 185347585 COREAD T C Synonymous p.G450G c.1350T>C 3 185337194 CM