Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 19 648951 648951 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr19:648951C>A c.601G>T c.(601-603)Ggc>Tgc p.G201C BLCA 19 651661 651661 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr19:651661G>A c.393C>T c.(391-393)ctC>ctT p.L131L BLCA 19 651705 651705 + Missense_Mutation SNP G G A TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr19:651705G>A c.349C>T c.(349-351)Ccg>Tcg p.P117S BLCA 19 651727 651727 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr19:651727C>T c.327G>A c.(325-327)gaG>gaA p.E109E BLCA 19 651729 651729 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr19:651729C>T c.325G>A c.(325-327)Gag>Aag p.E109K BRCA 19 648216 648216 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr19:648216delG c.848delC c.(847-849)cctfs p.P283fs BRCA 19 648960 648960 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr19:648960C>G c.592G>C c.(592-594)Gaa>Caa p.E198Q CESC 19 648229 648229 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr19:648229C>A c.835G>T c.(835-837)Gcc>Tcc p.A279S CESC 19 648250 648250 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr19:648250T>A c.814A>T c.(814-816)Agc>Tgc p.S272C CESC 19 651748 651748 + Silent SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 g.chr19:651748A>C c.306T>G c.(304-306)gcT>gcG p.A102A COAD 19 648162 648162 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:648162G>A c.902C>T c.(901-903)tCg>tTg p.S301L COAD 19 648206 648206 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:648206A>G c.858T>C c.(856-858)acT>acC p.T286T COAD 19 648431 648431 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:648431G>A c.727C>T c.(727-729)Cgg>Tgg p.R243W COAD 19 648885 648885 + Missense_Mutation SNP C C T TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr19:648885C>T c.667G>A c.(667-669)Gta>Ata p.V223I COAD 19 652265 652265 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:652265C>A c.166G>T c.(166-168)Gct>Tct p.A56S COADREAD 19 648162 648162 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:648162G>A c.902C>T c.(901-903)tCg>tTg p.S301L COADREAD 19 648206 648206 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:648206A>G c.858T>C c.(856-858)acT>acC p.T286T COADREAD 19 648262 648263 + Frame_Shift_Ins INS - - G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:648262_648263insG c.801_802insC c.(799-804)cccgtcfs p.V268fs COADREAD 19 648431 648431 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:648431G>A c.727C>T c.(727-729)Cgg>Tgg p.R243W COADREAD 19 648885 648885 + Missense_Mutation SNP C C T TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr19:648885C>T c.667G>A c.(667-669)Gta>Ata p.V223I COADREAD 19 652265 652265 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:652265C>A c.166G>T c.(166-168)Gct>Tct p.A56S ESCA 19 651750 651750 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr19:651750C>T c.304G>A c.(304-306)Gct>Act p.A102T GBMLGG 19 648907 648907 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:648907G>A c.645C>T c.(643-645)acC>acT p.T215T GBMLGG 19 649708 649708 + Frame_Shift_Del DEL C C - TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 g.chr19:649708delC c.547delG c.(547-549)gccfs p.A183fs GBMLGG 19 650259 650259 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:650259C>T c.481G>A c.(481-483)Gcc>Acc p.A161T GBMLGG 19 651708 651708 + Missense_Mutation SNP G G C TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chr19:651708G>C c.346C>G c.(346-348)Cat>Gat p.H116D LGG 19 648907 648907 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:648907G>A c.645C>T c.(643-645)acC>acT p.T215T LGG 19 649708 649708 + Frame_Shift_Del DEL C C - TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 g.chr19:649708delC c.547delG c.(547-549)gccfs p.A183fs LGG 19 650259 650259 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:650259C>T c.481G>A c.(481-483)Gcc>Acc p.A161T LGG 19 651708 651708 + Missense_Mutation SNP G G C TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chr19:651708G>C c.346C>G c.(346-348)Cat>Gat p.H116D LIHC 19 651657 651657 + Missense_Mutation SNP T T A TCGA-DD-AADV-01A-11D-A38X-10 TCGA-DD-AADV-10A-01D-A38X-10 g.chr19:651657T>A c.397A>T c.(397-399)Acg>Tcg p.T133S LUSC 19 652863 652863 + Nonsense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr19:652863C>A c.97G>T c.(97-99)Gag>Tag p.E33* PAAD 19 648262 648263 + Frame_Shift_Ins INS - - G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr19:648262_648263insG c.801_802insC c.(799-804)cccgtcfs p.V268fs PAAD 19 651781 651781 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:651781G>A c.273C>T c.(271-273)ttC>ttT p.F91F PAAD 19 652265 652265 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:652265C>A c.166G>T c.(166-168)Gct>Tct p.A56S READ 19 648262 648263 + Frame_Shift_Ins INS - - G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:648262_648263insG c.801_802insC c.(799-804)cccgtcfs p.V268fs SARC 19 648399 648399 + Missense_Mutation SNP G G C TCGA-Z4-AAPF-01A-11D-A38Z-09 TCGA-Z4-AAPF-10A-01D-A38Z-09 g.chr19:648399G>C c.759C>G c.(757-759)gaC>gaG p.D253E SKCM 19 648902 648902 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:648902G>A c.650C>T c.(649-651)cCc>cTc p.P217L SKCM 19 651671 651671 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr19:651671C>T c.383G>A c.(382-384)cGc>cAc p.R128H SKCM 19 651691 651691 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr19:651691C>T c.363G>A c.(361-363)cgG>cgA p.R121R SKCM 19 651732 651732 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr19:651732G>A c.322C>T c.(322-324)Cct>Tct p.P108S SKCM 19 652848 652848 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr19:652848C>T c.112G>A c.(112-114)Gag>Aag p.E38K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 651852 651852 single base substitution C T 3_prime_UTR_variant BLCA-CN 19 651852 651852 single base substitution C T downstream_gene_variant BLCA-CN 19 651852 651852 single base substitution C T exon_variant BLCA-CN 19 651852 651852 single base substitution C T intron_variant BLCA-CN 19 651852 651852 single base substitution C T missense_variant V68M 202G>A BLCA-CN 19 651852 651852 single base substitution C T upstream_gene_variant BLCA-US 19 648951 648951 single base substitution C A 3_prime_UTR_variant BLCA-US 19 648951 648951 single base substitution C A downstream_gene_variant BLCA-US 19 648951 648951 single base substitution C A exon_variant BLCA-US 19 648951 648951 single base substitution C A missense_variant G201C 601G>T BOCA-FR 19 644577 644577 single base substitution C T downstream_gene_variant BOCA-FR 19 644583 644583 single base substitution A G downstream_gene_variant BOCA-FR 19 650197 650197 single base substitution A T downstream_gene_variant BOCA-FR 19 650197 650197 single base substitution A T intron_variant BOCA-FR 19 650197 650197 single base substitution A T upstream_gene_variant BOCA-FR 19 659294 659294 single base substitution C T intron_variant BRCA-EU 19 643002 643002 single base substitution T C downstream_gene_variant BRCA-EU 19 645845 645845 single base substitution C T downstream_gene_variant BRCA-EU 19 646166 646166 single base substitution T C downstream_gene_variant BRCA-EU 19 646523 646523 single base substitution C A downstream_gene_variant BRCA-EU 19 649270 649270 single base substitution C T downstream_gene_variant BRCA-EU 19 649270 649270 single base substitution C T exon_variant BRCA-EU 19 649270 649270 single base substitution C T intron_variant BRCA-EU 19 649270 649270 single base substitution C T upstream_gene_variant BRCA-EU 19 651929 651929 single base substitution A T downstream_gene_variant BRCA-EU 19 651929 651929 single base substitution A T intron_variant BRCA-EU 19 651929 651929 single base substitution A T upstream_gene_variant BRCA-EU 19 653378 653378 single base substitution C T intron_variant BRCA-EU 19 653378 653378 single base substitution C T upstream_gene_variant BRCA-EU 19 654511 654511 single base substitution C T intron_variant BRCA-EU 19 654511 654511 single base substitution C T upstream_gene_variant BRCA-EU 19 655015 655015 deletion of <=200bp A - intron_variant BRCA-EU 19 655015 655015 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 655454 655454 single base substitution C G intron_variant BRCA-EU 19 655454 655454 single base substitution C G upstream_gene_variant BRCA-EU 19 655464 655464 single base substitution C T intron_variant BRCA-EU 19 655464 655464 single base substitution C T upstream_gene_variant BRCA-EU 19 656685 656685 single base substitution A G intron_variant BRCA-EU 19 656685 656685 single base substitution A G upstream_gene_variant BRCA-EU 19 658121 658121 single base substitution C A intron_variant BRCA-EU 19 658300 658300 single base substitution G T intron_variant BRCA-EU 19 659993 659993 single base substitution G C intron_variant BRCA-EU 19 660907 660907 single base substitution C G intron_variant BRCA-EU 19 663793 663793 single base substitution A G upstream_gene_variant BRCA-EU 19 663993 663993 single base substitution G T upstream_gene_variant BRCA-EU 19 666598 666598 single base substitution G A upstream_gene_variant BRCA-EU 19 666729 666733 deletion of <=200bp GATAG - upstream_gene_variant BRCA-EU 19 666839 666839 single base substitution G A upstream_gene_variant BRCA-EU 19 667169 667169 single base substitution C G upstream_gene_variant BRCA-EU 19 667423 667423 single base substitution C T upstream_gene_variant BRCA-EU 19 667433 667433 single base substitution G A upstream_gene_variant BRCA-UK 19 666598 666598 single base substitution G A upstream_gene_variant BRCA-US 19 648216 648216 deletion of <=200bp G - downstream_gene_variant BRCA-US 19 648216 648216 deletion of <=200bp G - exon_variant BRCA-US 19 648216 648216 deletion of <=200bp G - frameshift_variant P283 BRCA-US 19 648960 648960 single base substitution C G 3_prime_UTR_variant BRCA-US 19 648960 648960 single base substitution C G downstream_gene_variant BRCA-US 19 648960 648960 single base substitution C G exon_variant BRCA-US 19 648960 648960 single base substitution C G missense_variant E198Q 592G>C BTCA-JP 19 643528 643528 deletion of <=200bp G - downstream_gene_variant BTCA-JP 19 643633 643633 single base substitution G A downstream_gene_variant BTCA-JP 19 648225 648225 single base substitution G A downstream_gene_variant BTCA-JP 19 648225 648225 single base substitution G A exon_variant BTCA-JP 19 648225 648225 single base substitution G A missense_variant T280M 839C>T BTCA-JP 19 651587 651587 single base substitution C T downstream_gene_variant BTCA-JP 19 651587 651587 single base substitution C T exon_variant BTCA-JP 19 651587 651587 single base substitution C T intron_variant BTCA-JP 19 651587 651587 single base substitution C T upstream_gene_variant BTCA-JP 19 652118 652118 single base substitution A C downstream_gene_variant BTCA-JP 19 652118 652118 single base substitution A C intron_variant BTCA-JP 19 652118 652118 single base substitution A C upstream_gene_variant BTCA-JP 19 653037 653037 single base substitution G A intron_variant BTCA-JP 19 653037 653037 single base substitution G A upstream_gene_variant CESC-US 19 643436 643436 single base substitution C G downstream_gene_variant CESC-US 19 648229 648229 single base substitution C A downstream_gene_variant CESC-US 19 648229 648229 single base substitution C A exon_variant CESC-US 19 648229 648229 single base substitution C A missense_variant A279S 835G>T CESC-US 19 648250 648250 single base substitution T A downstream_gene_variant CESC-US 19 648250 648250 single base substitution T A exon_variant CESC-US 19 648250 648250 single base substitution T A missense_variant S272C 814A>T CESC-US 19 651748 651748 single base substitution A C 3_prime_UTR_variant CESC-US 19 651748 651748 single base substitution A C downstream_gene_variant CESC-US 19 651748 651748 single base substitution A C exon_variant CESC-US 19 651748 651748 single base substitution A C synonymous_variant A102A 306T>G CESC-US 19 651748 651748 single base substitution A C synonymous_variant A69A 207T>G CESC-US 19 651748 651748 single base substitution A C synonymous_variant A87A 261T>G CESC-US 19 651748 651748 single base substitution A C synonymous_variant A91A 273T>G CESC-US 19 651748 651748 single base substitution A C upstream_gene_variant CLLE-ES 19 647232 647232 single base substitution G A downstream_gene_variant CLLE-ES 19 667552 667552 single base substitution C T upstream_gene_variant COAD-US 19 643492 643492 single base substitution G A downstream_gene_variant COAD-US 19 648162 648162 single base substitution G A downstream_gene_variant COAD-US 19 648162 648162 single base substitution G A exon_variant COAD-US 19 648162 648162 single base substitution G A missense_variant S301L 902C>T COAD-US 19 648206 648206 single base substitution A G downstream_gene_variant COAD-US 19 648206 648206 single base substitution A G exon_variant COAD-US 19 648206 648206 single base substitution A G synonymous_variant T286T 858T>C COAD-US 19 648431 648431 single base substitution G A downstream_gene_variant COAD-US 19 648431 648431 single base substitution G A exon_variant COAD-US 19 648431 648431 single base substitution G A missense_variant R243W 727C>T COAD-US 19 651684 651684 single base substitution C T 3_prime_UTR_variant COAD-US 19 651684 651684 single base substitution C T downstream_gene_variant COAD-US 19 651684 651684 single base substitution C T exon_variant COAD-US 19 651684 651684 single base substitution C T missense_variant A109T 325G>A COAD-US 19 651684 651684 single base substitution C T missense_variant A113T 337G>A COAD-US 19 651684 651684 single base substitution C T missense_variant A124T 370G>A COAD-US 19 651684 651684 single base substitution C T missense_variant A91T 271G>A COAD-US 19 651684 651684 single base substitution C T splice_region_variant COAD-US 19 651684 651684 single base substitution C T upstream_gene_variant COAD-US 19 652238 652238 single base substitution A G downstream_gene_variant COAD-US 19 652238 652238 single base substitution A G exon_variant COAD-US 19 652238 652238 single base substitution A G synonymous_variant L65L 193T>C COAD-US 19 652238 652238 single base substitution A G synonymous_variant R55R 165T>C COAD-US 19 652238 652238 single base substitution A G upstream_gene_variant COAD-US 19 652265 652265 single base substitution C A downstream_gene_variant COAD-US 19 652265 652265 single base substitution C A exon_variant COAD-US 19 652265 652265 single base substitution C A missense_variant A56S 166G>T COAD-US 19 652265 652265 single base substitution C A missense_variant Q46H 138G>T COAD-US 19 652265 652265 single base substitution C A upstream_gene_variant COAD-US 19 652837 652837 single base substitution C T exon_variant COAD-US 19 652837 652837 single base substitution C T missense_variant R32Q 95G>A COAD-US 19 652837 652837 single base substitution C T synonymous_variant P41P 123G>A COAD-US 19 652837 652837 single base substitution C T upstream_gene_variant COCA-CN 19 643134 643134 single base substitution G C downstream_gene_variant COCA-CN 19 643137 643137 single base substitution A G downstream_gene_variant COCA-CN 19 643150 643150 single base substitution C A downstream_gene_variant COCA-CN 19 643443 643443 single base substitution C T downstream_gene_variant COCA-CN 19 646722 646722 single base substitution A G downstream_gene_variant COCA-CN 19 646758 646758 single base substitution C T downstream_gene_variant COCA-CN 19 646887 646887 single base substitution C T downstream_gene_variant COCA-CN 19 651755 651755 single base substitution G A 3_prime_UTR_variant COCA-CN 19 651755 651755 single base substitution G A downstream_gene_variant COCA-CN 19 651755 651755 single base substitution G A exon_variant COCA-CN 19 651755 651755 single base substitution G A missense_variant A100V 299C>T COCA-CN 19 651755 651755 single base substitution G A missense_variant A67V 200C>T COCA-CN 19 651755 651755 single base substitution G A missense_variant A85V 254C>T COCA-CN 19 651755 651755 single base substitution G A missense_variant A89V 266C>T COCA-CN 19 651755 651755 single base substitution G A upstream_gene_variant COCA-CN 19 652878 652878 single base substitution T C exon_variant COCA-CN 19 652878 652878 single base substitution T C missense_variant I18M 54A>G COCA-CN 19 652878 652878 single base substitution T C missense_variant I28V 82A>G COCA-CN 19 652878 652878 single base substitution T C upstream_gene_variant COCA-CN 19 654956 654956 single base substitution A T intron_variant COCA-CN 19 654956 654956 single base substitution A T upstream_gene_variant EOPC-DE 19 649859 649859 single base substitution T C downstream_gene_variant EOPC-DE 19 649859 649859 single base substitution T C intron_variant EOPC-DE 19 649859 649859 single base substitution T C upstream_gene_variant EOPC-DE 19 651131 651131 single base substitution T C downstream_gene_variant EOPC-DE 19 651131 651131 single base substitution T C intron_variant EOPC-DE 19 651131 651131 single base substitution T C upstream_gene_variant EOPC-DE 19 651146 651146 single base substitution A G downstream_gene_variant EOPC-DE 19 651146 651146 single base substitution A G intron_variant EOPC-DE 19 651146 651146 single base substitution A G upstream_gene_variant EOPC-DE 19 664191 664191 single base substitution C T upstream_gene_variant EOPC-DE 19 667260 667260 single base substitution G A upstream_gene_variant ESAD-UK 19 646743 646743 single base substitution C G downstream_gene_variant ESAD-UK 19 647997 647997 single base substitution G C 3_prime_UTR_variant ESAD-UK 19 647997 647997 single base substitution G C downstream_gene_variant ESAD-UK 19 647997 647997 single base substitution G C exon_variant ESAD-UK 19 648696 648696 single base substitution C T downstream_gene_variant ESAD-UK 19 648696 648696 single base substitution C T intron_variant ESAD-UK 19 649743 649743 single base substitution A T 3_prime_UTR_variant ESAD-UK 19 649743 649743 single base substitution A T downstream_gene_variant ESAD-UK 19 649743 649743 single base substitution A T exon_variant ESAD-UK 19 649743 649743 single base substitution A T missense_variant V138D 413T>A ESAD-UK 19 649743 649743 single base substitution A T missense_variant V144D 431T>A ESAD-UK 19 649743 649743 single base substitution A T missense_variant V171D 512T>A ESAD-UK 19 649743 649743 single base substitution A T upstream_gene_variant ESAD-UK 19 649856 649856 single base substitution T A downstream_gene_variant ESAD-UK 19 649856 649856 single base substitution T A intron_variant ESAD-UK 19 649856 649856 single base substitution T A upstream_gene_variant ESAD-UK 19 649859 649859 single base substitution T C downstream_gene_variant ESAD-UK 19 649859 649859 single base substitution T C intron_variant ESAD-UK 19 649859 649859 single base substitution T C upstream_gene_variant ESAD-UK 19 650197 650197 single base substitution A T downstream_gene_variant ESAD-UK 19 650197 650197 single base substitution A T intron_variant ESAD-UK 19 650197 650197 single base substitution A T upstream_gene_variant ESAD-UK 19 651115 651115 single base substitution C T downstream_gene_variant ESAD-UK 19 651115 651115 single base substitution C T intron_variant ESAD-UK 19 651115 651115 single base substitution C T upstream_gene_variant ESAD-UK 19 651642 651642 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 651642 651642 single base substitution C T downstream_gene_variant ESAD-UK 19 651642 651642 single base substitution C T exon_variant ESAD-UK 19 651642 651642 single base substitution C T intron_variant ESAD-UK 19 651642 651642 single base substitution C T missense_variant G105S 313G>A ESAD-UK 19 651642 651642 single base substitution C T missense_variant G123S 367G>A ESAD-UK 19 651642 651642 single base substitution C T missense_variant G127S 379G>A ESAD-UK 19 651642 651642 single base substitution C T missense_variant G138S 412G>A ESAD-UK 19 651642 651642 single base substitution C T upstream_gene_variant ESAD-UK 19 652910 652910 single base substitution T C intron_variant ESAD-UK 19 652910 652910 single base substitution T C upstream_gene_variant ESAD-UK 19 653088 653088 single base substitution C T intron_variant ESAD-UK 19 653088 653088 single base substitution C T upstream_gene_variant ESAD-UK 19 653189 653189 single base substitution G A intron_variant ESAD-UK 19 653189 653189 single base substitution G A upstream_gene_variant ESAD-UK 19 654693 654693 single base substitution G A intron_variant ESAD-UK 19 654693 654693 single base substitution G A upstream_gene_variant ESAD-UK 19 655714 655714 single base substitution G A intron_variant ESAD-UK 19 655714 655714 single base substitution G A upstream_gene_variant ESAD-UK 19 660424 660424 single base substitution G A intron_variant ESAD-UK 19 664637 664640 deletion of <=200bp TTTG - upstream_gene_variant ESAD-UK 19 665382 665382 single base substitution G T upstream_gene_variant ESAD-UK 19 665713 665713 single base substitution C T upstream_gene_variant ESAD-UK 19 666270 666270 single base substitution C T upstream_gene_variant ESCA-CN 19 646872 646872 single base substitution G C downstream_gene_variant ESCA-CN 19 646891 646891 single base substitution G A downstream_gene_variant ESCA-CN 19 649963 649963 single base substitution A G downstream_gene_variant ESCA-CN 19 649963 649963 single base substitution A G intron_variant ESCA-CN 19 649963 649963 single base substitution A G upstream_gene_variant ESCA-CN 19 650009 650009 single base substitution G A downstream_gene_variant ESCA-CN 19 650009 650009 single base substitution G A intron_variant ESCA-CN 19 650009 650009 single base substitution G A upstream_gene_variant ESCA-CN 19 652316 652316 single base substitution C A downstream_gene_variant ESCA-CN 19 652316 652316 single base substitution C A intron_variant ESCA-CN 19 652316 652316 single base substitution C A upstream_gene_variant LAML-KR 19 642621 642621 single base substitution C G downstream_gene_variant LAML-KR 19 642640 642640 single base substitution G C downstream_gene_variant LAML-KR 19 649921 649921 single base substitution A T downstream_gene_variant LAML-KR 19 649921 649921 single base substitution A T intron_variant LAML-KR 19 649921 649921 single base substitution A T upstream_gene_variant LAML-KR 19 651852 651852 single base substitution C T 3_prime_UTR_variant LAML-KR 19 651852 651852 single base substitution C T downstream_gene_variant LAML-KR 19 651852 651852 single base substitution C T exon_variant LAML-KR 19 651852 651852 single base substitution C T intron_variant LAML-KR 19 651852 651852 single base substitution C T missense_variant V68M 202G>A LAML-KR 19 651852 651852 single base substitution C T upstream_gene_variant LGG-US 19 649708 649708 deletion of <=200bp C - 3_prime_UTR_variant LGG-US 19 649708 649708 deletion of <=200bp C - downstream_gene_variant LGG-US 19 649708 649708 deletion of <=200bp C - exon_variant LGG-US 19 649708 649708 deletion of <=200bp C - frameshift_variant A150 LGG-US 19 649708 649708 deletion of <=200bp C - frameshift_variant A156 LGG-US 19 649708 649708 deletion of <=200bp C - frameshift_variant A183 LGG-US 19 649708 649708 deletion of <=200bp C - upstream_gene_variant LGG-US 19 651708 651708 single base substitution G C 3_prime_UTR_variant LGG-US 19 651708 651708 single base substitution G C downstream_gene_variant LGG-US 19 651708 651708 single base substitution G C exon_variant LGG-US 19 651708 651708 single base substitution G C missense_variant H101D 301C>G LGG-US 19 651708 651708 single base substitution G C missense_variant H105D 313C>G LGG-US 19 651708 651708 single base substitution G C missense_variant H116D 346C>G LGG-US 19 651708 651708 single base substitution G C missense_variant H83D 247C>G LGG-US 19 651708 651708 single base substitution G C upstream_gene_variant LICA-FR 19 644577 644577 single base substitution C T downstream_gene_variant LICA-FR 19 649856 649856 single base substitution T A downstream_gene_variant LICA-FR 19 649856 649856 single base substitution T A intron_variant LICA-FR 19 649856 649856 single base substitution T A upstream_gene_variant LICA-FR 19 649859 649859 single base substitution T C downstream_gene_variant LICA-FR 19 649859 649859 single base substitution T C intron_variant LICA-FR 19 649859 649859 single base substitution T C upstream_gene_variant LICA-FR 19 656256 656256 single base substitution G A intron_variant LICA-FR 19 656256 656256 single base substitution G A upstream_gene_variant LINC-JP 19 643528 643528 deletion of <=200bp G - downstream_gene_variant LINC-JP 19 648179 648179 single base substitution T A downstream_gene_variant LINC-JP 19 648179 648179 single base substitution T A exon_variant LINC-JP 19 648179 648179 single base substitution T A synonymous_variant S295S 885A>T LINC-JP 19 648950 648950 single base substitution C A 3_prime_UTR_variant LINC-JP 19 648950 648950 single base substitution C A downstream_gene_variant LINC-JP 19 648950 648950 single base substitution C A exon_variant LINC-JP 19 648950 648950 single base substitution C A missense_variant G201V 602G>T LINC-JP 19 648951 648951 single base substitution C G 3_prime_UTR_variant LINC-JP 19 648951 648951 single base substitution C G downstream_gene_variant LINC-JP 19 648951 648951 single base substitution C G exon_variant LINC-JP 19 648951 648951 single base substitution C G missense_variant G201R 601G>C LINC-JP 19 649917 649917 single base substitution G A downstream_gene_variant LINC-JP 19 649917 649917 single base substitution G A intron_variant LINC-JP 19 649917 649917 single base substitution G A upstream_gene_variant LINC-JP 19 649921 649921 single base substitution A T downstream_gene_variant LINC-JP 19 649921 649921 single base substitution A T intron_variant LINC-JP 19 649921 649921 single base substitution A T upstream_gene_variant LINC-JP 19 650178 650178 single base substitution A T downstream_gene_variant LINC-JP 19 650178 650178 single base substitution A T intron_variant LINC-JP 19 650178 650178 single base substitution A T upstream_gene_variant LINC-JP 19 650181 650181 single base substitution C T downstream_gene_variant LINC-JP 19 650181 650181 single base substitution C T intron_variant LINC-JP 19 650181 650181 single base substitution C T upstream_gene_variant LINC-JP 19 650197 650197 single base substitution A T downstream_gene_variant LINC-JP 19 650197 650197 single base substitution A T intron_variant LINC-JP 19 650197 650197 single base substitution A T upstream_gene_variant LINC-JP 19 662692 662692 deletion of <=200bp G - intron_variant LINC-JP 19 662692 662692 deletion of <=200bp G - upstream_gene_variant LINC-JP 19 663373 663373 single base substitution C G upstream_gene_variant LIRI-JP 19 645316 645316 single base substitution C A downstream_gene_variant LIRI-JP 19 648892 648892 single base substitution C A downstream_gene_variant LIRI-JP 19 648892 648892 single base substitution C A exon_variant LIRI-JP 19 648892 648892 single base substitution C A missense_variant E220D 660G>T LIRI-JP 19 653019 653019 insertion of <=200bp - A intron_variant LIRI-JP 19 653019 653019 insertion of <=200bp - A upstream_gene_variant LIRI-JP 19 656790 656790 deletion of <=200bp G - intron_variant LIRI-JP 19 656790 656790 deletion of <=200bp G - upstream_gene_variant LIRI-JP 19 657399 657399 single base substitution C T intron_variant LIRI-JP 19 660575 660575 single base substitution A G intron_variant LUSC-KR 19 643103 643103 single base substitution G A downstream_gene_variant LUSC-KR 19 643104 643104 single base substitution G T downstream_gene_variant LUSC-KR 19 646204 646204 single base substitution G A downstream_gene_variant LUSC-KR 19 647486 647486 single base substitution T C downstream_gene_variant LUSC-KR 19 649902 649902 single base substitution A C downstream_gene_variant LUSC-KR 19 649902 649902 single base substitution A C intron_variant LUSC-KR 19 649902 649902 single base substitution A C upstream_gene_variant LUSC-KR 19 649921 649921 single base substitution A T downstream_gene_variant LUSC-KR 19 649921 649921 single base substitution A T intron_variant LUSC-KR 19 649921 649921 single base substitution A T upstream_gene_variant LUSC-KR 19 649935 649935 single base substitution A G downstream_gene_variant LUSC-KR 19 649935 649935 single base substitution A G intron_variant LUSC-KR 19 649935 649935 single base substitution A G upstream_gene_variant LUSC-KR 19 649994 649994 single base substitution A T downstream_gene_variant LUSC-KR 19 649994 649994 single base substitution A T intron_variant LUSC-KR 19 649994 649994 single base substitution A T upstream_gene_variant LUSC-KR 19 650009 650009 single base substitution G A downstream_gene_variant LUSC-KR 19 650009 650009 single base substitution G A intron_variant LUSC-KR 19 650009 650009 single base substitution G A upstream_gene_variant LUSC-KR 19 650013 650013 single base substitution A T downstream_gene_variant LUSC-KR 19 650013 650013 single base substitution A T intron_variant LUSC-KR 19 650013 650013 single base substitution A T upstream_gene_variant LUSC-US 19 643539 643539 single base substitution C T downstream_gene_variant LUSC-US 19 652863 652863 single base substitution C A exon_variant LUSC-US 19 652863 652863 single base substitution C A stop_gained E33* 97G>T LUSC-US 19 652863 652863 single base substitution C A synonymous_variant A23A 69G>T LUSC-US 19 652863 652863 single base substitution C A upstream_gene_variant MALY-DE 19 649856 649856 single base substitution T A downstream_gene_variant MALY-DE 19 649856 649856 single base substitution T A intron_variant MALY-DE 19 649856 649856 single base substitution T A upstream_gene_variant MALY-DE 19 659868 659868 single base substitution A C intron_variant MALY-DE 19 660273 660273 single base substitution C A intron_variant MALY-DE 19 660410 660410 single base substitution C T intron_variant MALY-DE 19 662778 662778 single base substitution C T exon_variant MALY-DE 19 662778 662778 single base substitution C T intron_variant MALY-DE 19 662778 662778 single base substitution C T upstream_gene_variant MELA-AU 19 643488 643488 single base substitution C A downstream_gene_variant MELA-AU 19 644015 644015 single base substitution G A downstream_gene_variant MELA-AU 19 644368 644368 single base substitution C T downstream_gene_variant MELA-AU 19 644512 644512 single base substitution G A downstream_gene_variant MELA-AU 19 644551 644551 single base substitution G A downstream_gene_variant MELA-AU 19 644765 644765 single base substitution C A downstream_gene_variant MELA-AU 19 645019 645019 single base substitution G A downstream_gene_variant MELA-AU 19 645133 645133 single base substitution G A downstream_gene_variant MELA-AU 19 645837 645837 single base substitution G A downstream_gene_variant MELA-AU 19 646045 646045 single base substitution C A downstream_gene_variant MELA-AU 19 646417 646417 single base substitution G A downstream_gene_variant MELA-AU 19 647000 647000 single base substitution G A downstream_gene_variant MELA-AU 19 647076 647076 single base substitution G A downstream_gene_variant MELA-AU 19 647911 647911 single base substitution G A 3_prime_UTR_variant MELA-AU 19 647911 647911 single base substitution G A downstream_gene_variant MELA-AU 19 647911 647911 single base substitution G A exon_variant MELA-AU 19 647933 647933 single base substitution G A 3_prime_UTR_variant MELA-AU 19 647933 647933 single base substitution G A downstream_gene_variant MELA-AU 19 647933 647933 single base substitution G A exon_variant MELA-AU 19 648076 648076 single base substitution G A 3_prime_UTR_variant MELA-AU 19 648076 648076 single base substitution G A downstream_gene_variant MELA-AU 19 648076 648076 single base substitution G A exon_variant MELA-AU 19 649015 649015 single base substitution G A downstream_gene_variant MELA-AU 19 649015 649015 single base substitution G A exon_variant MELA-AU 19 649015 649015 single base substitution G A intron_variant MELA-AU 19 649026 649026 single base substitution G A downstream_gene_variant MELA-AU 19 649026 649026 single base substitution G A exon_variant MELA-AU 19 649026 649026 single base substitution G A intron_variant MELA-AU 19 649146 649146 single base substitution C T downstream_gene_variant MELA-AU 19 649146 649146 single base substitution C T exon_variant MELA-AU 19 649146 649146 single base substitution C T intron_variant MELA-AU 19 649146 649146 single base substitution C T upstream_gene_variant MELA-AU 19 649186 649186 single base substitution G A downstream_gene_variant MELA-AU 19 649186 649186 single base substitution G A exon_variant MELA-AU 19 649186 649186 single base substitution G A intron_variant MELA-AU 19 649186 649186 single base substitution G A upstream_gene_variant MELA-AU 19 649542 649542 single base substitution C T downstream_gene_variant MELA-AU 19 649542 649542 single base substitution C T exon_variant MELA-AU 19 649542 649542 single base substitution C T intron_variant MELA-AU 19 649542 649542 single base substitution C T upstream_gene_variant MELA-AU 19 649729 649729 single base substitution G A 3_prime_UTR_variant MELA-AU 19 649729 649729 single base substitution G A downstream_gene_variant MELA-AU 19 649729 649729 single base substitution G A exon_variant MELA-AU 19 649729 649729 single base substitution G A missense_variant P143S 427C>T MELA-AU 19 649729 649729 single base substitution G A missense_variant P149S 445C>T MELA-AU 19 649729 649729 single base substitution G A missense_variant P176S 526C>T MELA-AU 19 649729 649729 single base substitution G A upstream_gene_variant MELA-AU 19 649783 649783 single base substitution G A downstream_gene_variant MELA-AU 19 649783 649783 single base substitution G A intron_variant MELA-AU 19 649783 649783 single base substitution G A upstream_gene_variant MELA-AU 19 650382 650405 deletion of <=200bp AGGGCAGGGCCAGCATCAGCTTCT - downstream_gene_variant MELA-AU 19 650382 650405 deletion of <=200bp AGGGCAGGGCCAGCATCAGCTTCT - exon_variant MELA-AU 19 650382 650405 deletion of <=200bp AGGGCAGGGCCAGCATCAGCTTCT - intron_variant MELA-AU 19 650382 650405 deletion of <=200bp AGGGCAGGGCCAGCATCAGCTTCT - upstream_gene_variant MELA-AU 19 650727 650727 single base substitution G A downstream_gene_variant MELA-AU 19 650727 650727 single base substitution G A intron_variant MELA-AU 19 650727 650727 single base substitution G A upstream_gene_variant MELA-AU 19 650777 650777 single base substitution G A downstream_gene_variant MELA-AU 19 650777 650777 single base substitution G A intron_variant MELA-AU 19 650777 650777 single base substitution G A upstream_gene_variant MELA-AU 19 651087 651087 single base substitution A C downstream_gene_variant MELA-AU 19 651087 651087 single base substitution A C intron_variant MELA-AU 19 651087 651087 single base substitution A C upstream_gene_variant MELA-AU 19 651185 651185 single base substitution G A downstream_gene_variant MELA-AU 19 651185 651185 single base substitution G A intron_variant MELA-AU 19 651185 651185 single base substitution G A upstream_gene_variant MELA-AU 19 651442 651442 single base substitution G A downstream_gene_variant MELA-AU 19 651442 651442 single base substitution G A exon_variant MELA-AU 19 651442 651442 single base substitution G A intron_variant MELA-AU 19 651442 651442 single base substitution G A upstream_gene_variant MELA-AU 19 651510 651510 single base substitution G A downstream_gene_variant MELA-AU 19 651510 651510 single base substitution G A exon_variant MELA-AU 19 651510 651510 single base substitution G A intron_variant MELA-AU 19 651510 651510 single base substitution G A upstream_gene_variant MELA-AU 19 651623 651623 single base substitution G A 3_prime_UTR_variant MELA-AU 19 651623 651623 single base substitution G A downstream_gene_variant MELA-AU 19 651623 651623 single base substitution G A exon_variant MELA-AU 19 651623 651623 single base substitution G A intron_variant MELA-AU 19 651623 651623 single base substitution G A missense_variant P111L 332C>T MELA-AU 19 651623 651623 single base substitution G A missense_variant P129L 386C>T MELA-AU 19 651623 651623 single base substitution G A missense_variant P133L 398C>T MELA-AU 19 651623 651623 single base substitution G A missense_variant P144L 431C>T MELA-AU 19 651623 651623 single base substitution G A upstream_gene_variant MELA-AU 19 651935 651935 single base substitution G A downstream_gene_variant MELA-AU 19 651935 651935 single base substitution G A intron_variant MELA-AU 19 651935 651935 single base substitution G A upstream_gene_variant MELA-AU 19 653413 653413 single base substitution G A intron_variant MELA-AU 19 653413 653413 single base substitution G A upstream_gene_variant MELA-AU 19 653852 653852 single base substitution G A intron_variant MELA-AU 19 653852 653852 single base substitution G A upstream_gene_variant MELA-AU 19 653967 653967 single base substitution T C intron_variant MELA-AU 19 653967 653967 single base substitution T C upstream_gene_variant MELA-AU 19 654100 654100 single base substitution G A intron_variant MELA-AU 19 654100 654100 single base substitution G A upstream_gene_variant MELA-AU 19 654257 654257 single base substitution C G intron_variant MELA-AU 19 654257 654257 single base substitution C G upstream_gene_variant MELA-AU 19 654301 654302 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 654301 654302 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 654336 654336 single base substitution G A intron_variant MELA-AU 19 654336 654336 single base substitution G A upstream_gene_variant MELA-AU 19 654400 654400 single base substitution C T intron_variant MELA-AU 19 654400 654400 single base substitution C T upstream_gene_variant MELA-AU 19 654405 654405 single base substitution G A intron_variant MELA-AU 19 654405 654405 single base substitution G A upstream_gene_variant MELA-AU 19 654619 654619 single base substitution G A intron_variant MELA-AU 19 654619 654619 single base substitution G A upstream_gene_variant MELA-AU 19 654626 654626 single base substitution G A intron_variant MELA-AU 19 654626 654626 single base substitution G A upstream_gene_variant MELA-AU 19 654947 654947 single base substitution G C intron_variant MELA-AU 19 654947 654947 single base substitution G C upstream_gene_variant MELA-AU 19 655714 655714 single base substitution G A intron_variant MELA-AU 19 655714 655714 single base substitution G A upstream_gene_variant MELA-AU 19 655795 655795 single base substitution G A intron_variant MELA-AU 19 655795 655795 single base substitution G A upstream_gene_variant MELA-AU 19 655883 655883 single base substitution G A intron_variant MELA-AU 19 655883 655883 single base substitution G A upstream_gene_variant MELA-AU 19 656042 656042 single base substitution G A intron_variant MELA-AU 19 656042 656042 single base substitution G A upstream_gene_variant MELA-AU 19 656301 656301 single base substitution G A intron_variant MELA-AU 19 656301 656301 single base substitution G A upstream_gene_variant MELA-AU 19 656883 656883 single base substitution G A intron_variant MELA-AU 19 656883 656883 single base substitution G A upstream_gene_variant MELA-AU 19 657153 657153 single base substitution G A intron_variant MELA-AU 19 657832 657832 single base substitution G A intron_variant MELA-AU 19 657869 657869 single base substitution G A intron_variant MELA-AU 19 657968 657968 single base substitution G A intron_variant MELA-AU 19 658045 658045 single base substitution T C intron_variant MELA-AU 19 658091 658091 single base substitution C T intron_variant MELA-AU 19 658823 658823 single base substitution G A intron_variant MELA-AU 19 658824 658824 single base substitution G A intron_variant MELA-AU 19 659850 659850 single base substitution G A intron_variant MELA-AU 19 660513 660513 single base substitution C T intron_variant MELA-AU 19 660628 660628 single base substitution C T intron_variant MELA-AU 19 661219 661220 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 661278 661278 single base substitution A G intron_variant MELA-AU 19 661732 661732 single base substitution C T intron_variant MELA-AU 19 661732 661732 single base substitution C T upstream_gene_variant MELA-AU 19 663346 663346 single base substitution G A upstream_gene_variant MELA-AU 19 663399 663399 single base substitution G A upstream_gene_variant MELA-AU 19 663416 663416 single base substitution G A upstream_gene_variant MELA-AU 19 663579 663580 multiple base substitution (>=2bp and <=200bp) TG GA upstream_gene_variant MELA-AU 19 663621 663621 single base substitution C T upstream_gene_variant MELA-AU 19 663623 663623 single base substitution G A upstream_gene_variant MELA-AU 19 664105 664105 single base substitution C A upstream_gene_variant MELA-AU 19 664662 664662 single base substitution G A upstream_gene_variant MELA-AU 19 665874 665874 single base substitution C T upstream_gene_variant MELA-AU 19 666093 666093 single base substitution G T upstream_gene_variant MELA-AU 19 666452 666452 single base substitution C T upstream_gene_variant MELA-AU 19 667119 667119 single base substitution G A upstream_gene_variant MELA-AU 19 667169 667170 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 667474 667474 single base substitution C T upstream_gene_variant MELA-AU 19 667709 667709 single base substitution G A upstream_gene_variant MELA-AU 19 667807 667807 single base substitution C T upstream_gene_variant MELA-AU 19 668156 668156 single base substitution G A upstream_gene_variant ORCA-IN 19 652251 652251 single base substitution C G downstream_gene_variant ORCA-IN 19 652251 652251 single base substitution C G exon_variant ORCA-IN 19 652251 652251 single base substitution C G missense_variant Q60H 180G>C ORCA-IN 19 652251 652251 single base substitution C G missense_variant R51T 152G>C ORCA-IN 19 652251 652251 single base substitution C G upstream_gene_variant ORCA-IN 19 652270 652270 single base substitution G C downstream_gene_variant ORCA-IN 19 652270 652270 single base substitution G C exon_variant ORCA-IN 19 652270 652270 single base substitution G C missense_variant P45A 133C>G ORCA-IN 19 652270 652270 single base substitution G C missense_variant S54C 161C>G ORCA-IN 19 652270 652270 single base substitution G C upstream_gene_variant OV-AU 19 645455 645455 single base substitution A C downstream_gene_variant OV-AU 19 649991 649991 single base substitution C T downstream_gene_variant OV-AU 19 649991 649991 single base substitution C T intron_variant OV-AU 19 649991 649991 single base substitution C T upstream_gene_variant PACA-AU 19 642847 642848 deletion of <=200bp CT - downstream_gene_variant PACA-AU 19 643536 643536 single base substitution C G downstream_gene_variant PACA-AU 19 646697 646697 single base substitution C T downstream_gene_variant PACA-AU 19 647374 647374 single base substitution G A downstream_gene_variant PACA-AU 19 647714 647714 single base substitution A C 3_prime_UTR_variant PACA-AU 19 647714 647714 single base substitution A C downstream_gene_variant PACA-AU 19 647714 647714 single base substitution A C exon_variant PACA-AU 19 659381 659381 single base substitution G A intron_variant PACA-AU 19 666096 666096 single base substitution C T upstream_gene_variant PACA-AU 19 667853 667853 single base substitution C T upstream_gene_variant PACA-CA 19 643231 643231 single base substitution C G downstream_gene_variant PACA-CA 19 646887 646887 single base substitution C T downstream_gene_variant PACA-CA 19 649917 649917 single base substitution G A downstream_gene_variant PACA-CA 19 649917 649917 single base substitution G A intron_variant PACA-CA 19 649917 649917 single base substitution G A upstream_gene_variant PACA-CA 19 651858 651858 single base substitution G A 3_prime_UTR_variant PACA-CA 19 651858 651858 single base substitution G A downstream_gene_variant PACA-CA 19 651858 651858 single base substitution G A exon_variant PACA-CA 19 651858 651858 single base substitution G A intron_variant PACA-CA 19 651858 651858 single base substitution G A splice_region_variant PACA-CA 19 651858 651858 single base substitution G A upstream_gene_variant PACA-CA 19 652346 652346 single base substitution C T downstream_gene_variant PACA-CA 19 652346 652346 single base substitution C T intron_variant PACA-CA 19 652346 652346 single base substitution C T upstream_gene_variant PACA-CA 19 661738 661738 single base substitution C A intron_variant PACA-CA 19 661738 661738 single base substitution C A upstream_gene_variant PACA-CA 19 662221 662221 single base substitution A G intron_variant PACA-CA 19 662221 662221 single base substitution A G upstream_gene_variant PACA-CA 19 663355 663355 insertion of <=200bp - G upstream_gene_variant PACA-CA 19 666543 666543 single base substitution A T upstream_gene_variant PAEN-AU 19 653044 653044 single base substitution G A intron_variant PAEN-AU 19 653044 653044 single base substitution G A upstream_gene_variant PAEN-AU 19 664049 664049 single base substitution C T upstream_gene_variant PAEN-AU 19 664178 664178 single base substitution A C upstream_gene_variant PBCA-DE 19 645827 645827 single base substitution G A downstream_gene_variant PBCA-DE 19 650013 650013 single base substitution A T downstream_gene_variant PBCA-DE 19 650013 650013 single base substitution A T intron_variant PBCA-DE 19 650013 650013 single base substitution A T upstream_gene_variant PBCA-DE 19 657888 657888 single base substitution C T intron_variant PBCA-DE 19 658901 658901 single base substitution C G intron_variant PBCA-DE 19 664078 664078 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 667353 667353 single base substitution C T upstream_gene_variant PRAD-CA 19 649859 649859 single base substitution T C downstream_gene_variant PRAD-CA 19 649859 649859 single base substitution T C intron_variant PRAD-CA 19 649859 649859 single base substitution T C upstream_gene_variant PRAD-CA 19 650197 650197 single base substitution A T downstream_gene_variant PRAD-CA 19 650197 650197 single base substitution A T intron_variant PRAD-CA 19 650197 650197 single base substitution A T upstream_gene_variant PRAD-CA 19 667400 667400 single base substitution T C upstream_gene_variant PRAD-UK 19 649544 649544 single base substitution C G downstream_gene_variant PRAD-UK 19 649544 649544 single base substitution C G exon_variant PRAD-UK 19 649544 649544 single base substitution C G intron_variant PRAD-UK 19 649544 649544 single base substitution C G upstream_gene_variant PRAD-UK 19 654139 654139 single base substitution C A intron_variant PRAD-UK 19 654139 654139 single base substitution C A upstream_gene_variant PRAD-UK 19 656319 656319 single base substitution A T intron_variant PRAD-UK 19 656319 656319 single base substitution A T upstream_gene_variant PRAD-UK 19 661555 661555 single base substitution G A intron_variant PRAD-UK 19 661555 661555 single base substitution G A upstream_gene_variant PRAD-UK 19 667038 667038 single base substitution C A upstream_gene_variant READ-US 19 648262 648262 insertion of <=200bp - G downstream_gene_variant READ-US 19 648262 648262 insertion of <=200bp - G exon_variant READ-US 19 648262 648262 insertion of <=200bp - G frameshift_variant V268A? RECA-EU 19 648456 648456 single base substitution G A downstream_gene_variant RECA-EU 19 648456 648456 single base substitution G A exon_variant RECA-EU 19 648456 648456 single base substitution G A synonymous_variant D234D 702C>T RECA-EU 19 658875 658875 single base substitution T A intron_variant RECA-EU 19 661469 661469 single base substitution A T intron_variant RECA-EU 19 661469 661469 single base substitution A T upstream_gene_variant RECA-EU 19 661733 661733 single base substitution T A intron_variant RECA-EU 19 661733 661733 single base substitution T A upstream_gene_variant RECA-EU 19 667345 667345 single base substitution A C upstream_gene_variant SKCA-BR 19 643093 643093 single base substitution C T downstream_gene_variant SKCA-BR 19 643103 643103 single base substitution G A downstream_gene_variant SKCA-BR 19 643104 643104 single base substitution G T downstream_gene_variant SKCA-BR 19 643396 643396 single base substitution A C downstream_gene_variant SKCA-BR 19 643909 643909 single base substitution T G downstream_gene_variant SKCA-BR 19 643952 643952 single base substitution A G downstream_gene_variant SKCA-BR 19 646704 646743 deletion of <=200bp GAGGAGGGCCCGCCACGCACGACCCCAGAGGGCGGCCACC - downstream_gene_variant SKCA-BR 19 647725 647725 single base substitution T G 3_prime_UTR_variant SKCA-BR 19 647725 647725 single base substitution T G downstream_gene_variant SKCA-BR 19 647725 647725 single base substitution T G exon_variant SKCA-BR 19 647740 647740 single base substitution A C 3_prime_UTR_variant SKCA-BR 19 647740 647740 single base substitution A C downstream_gene_variant SKCA-BR 19 647740 647740 single base substitution A C exon_variant SKCA-BR 19 647757 647757 single base substitution T G 3_prime_UTR_variant SKCA-BR 19 647757 647757 single base substitution T G downstream_gene_variant SKCA-BR 19 647757 647757 single base substitution T G exon_variant SKCA-BR 19 649220 649220 insertion of <=200bp - TGG downstream_gene_variant SKCA-BR 19 649220 649220 insertion of <=200bp - TGG exon_variant SKCA-BR 19 649220 649220 insertion of <=200bp - TGG intron_variant SKCA-BR 19 649220 649220 insertion of <=200bp - TGG upstream_gene_variant SKCA-BR 19 649962 649962 single base substitution G A downstream_gene_variant SKCA-BR 19 649962 649962 single base substitution G A intron_variant SKCA-BR 19 649962 649962 single base substitution G A upstream_gene_variant SKCA-BR 19 655889 655889 single base substitution A G intron_variant SKCA-BR 19 655889 655889 single base substitution A G upstream_gene_variant SKCA-BR 19 655896 655896 single base substitution A G intron_variant SKCA-BR 19 655896 655896 single base substitution A G upstream_gene_variant SKCA-BR 19 657163 657163 single base substitution G A intron_variant SKCA-BR 19 660373 660373 single base substitution G A intron_variant SKCA-BR 19 661335 661335 single base substitution A G intron_variant SKCA-BR 19 661708 661708 single base substitution G A intron_variant SKCA-BR 19 661708 661708 single base substitution G A upstream_gene_variant SKCA-BR 19 662585 662585 single base substitution T G intron_variant SKCA-BR 19 662585 662585 single base substitution T G upstream_gene_variant SKCA-BR 19 662976 662976 single base substitution A C intron_variant SKCA-BR 19 662976 662976 single base substitution A C upstream_gene_variant SKCA-BR 19 663164 663164 single base substitution A C 5_prime_UTR_variant SKCA-BR 19 663164 663164 single base substitution A C exon_variant SKCA-BR 19 663164 663164 single base substitution A C upstream_gene_variant SKCA-BR 19 663353 663353 single base substitution A G upstream_gene_variant SKCA-BR 19 665875 665875 single base substitution C T upstream_gene_variant SKCA-BR 19 667201 667232 deletion of <=200bp TCACGTCCCAGGCAGACCAAGCCCAGGTGGAC - upstream_gene_variant SKCM-US 19 648902 648902 single base substitution G A downstream_gene_variant SKCM-US 19 648902 648902 single base substitution G A exon_variant SKCM-US 19 648902 648902 single base substitution G A missense_variant P217L 650C>T SKCM-US 19 651671 651671 single base substitution C T 3_prime_UTR_variant SKCM-US 19 651671 651671 single base substitution C T downstream_gene_variant SKCM-US 19 651671 651671 single base substitution C T exon_variant SKCM-US 19 651671 651671 single base substitution C T intron_variant SKCM-US 19 651671 651671 single base substitution C T missense_variant R113H 338G>A SKCM-US 19 651671 651671 single base substitution C T missense_variant R117H 350G>A SKCM-US 19 651671 651671 single base substitution C T missense_variant R128H 383G>A SKCM-US 19 651671 651671 single base substitution C T missense_variant R95H 284G>A SKCM-US 19 651671 651671 single base substitution C T upstream_gene_variant SKCM-US 19 651691 651691 single base substitution C T 3_prime_UTR_variant SKCM-US 19 651691 651691 single base substitution C T downstream_gene_variant SKCM-US 19 651691 651691 single base substitution C T exon_variant SKCM-US 19 651691 651691 single base substitution C T splice_donor_variant SKCM-US 19 651691 651691 single base substitution C T synonymous_variant R106R 318G>A SKCM-US 19 651691 651691 single base substitution C T synonymous_variant R110R 330G>A SKCM-US 19 651691 651691 single base substitution C T synonymous_variant R121R 363G>A SKCM-US 19 651691 651691 single base substitution C T synonymous_variant R88R 264G>A SKCM-US 19 651691 651691 single base substitution C T upstream_gene_variant SKCM-US 19 651732 651732 single base substitution G A 3_prime_UTR_variant SKCM-US 19 651732 651732 single base substitution G A downstream_gene_variant SKCM-US 19 651732 651732 single base substitution G A exon_variant SKCM-US 19 651732 651732 single base substitution G A missense_variant P108S 322C>T SKCM-US 19 651732 651732 single base substitution G A missense_variant P75S 223C>T SKCM-US 19 651732 651732 single base substitution G A missense_variant P93S 277C>T SKCM-US 19 651732 651732 single base substitution G A missense_variant P97S 289C>T SKCM-US 19 651732 651732 single base substitution G A upstream_gene_variant SKCM-US 19 652848 652848 single base substitution C T exon_variant SKCM-US 19 652848 652848 single base substitution C T missense_variant E38K 112G>A SKCM-US 19 652848 652848 single base substitution C T synonymous_variant S28S 84G>A SKCM-US 19 652848 652848 single base substitution C T upstream_gene_variant SKCM-US 19 652849 652849 single base substitution G A exon_variant SKCM-US 19 652849 652849 single base substitution G A missense_variant S28L 83C>T SKCM-US 19 652849 652849 single base substitution G A synonymous_variant I37I 111C>T SKCM-US 19 652849 652849 single base substitution G A upstream_gene_variant STAD-US 19 643437 643437 single base substitution C T downstream_gene_variant STAD-US 19 643536 643536 single base substitution C G downstream_gene_variant STAD-US 19 648886 648886 single base substitution G A downstream_gene_variant STAD-US 19 648886 648886 single base substitution G A exon_variant STAD-US 19 648886 648886 single base substitution G A synonymous_variant H222H 666C>T STAD-US 19 651816 651816 single base substitution C T 3_prime_UTR_variant STAD-US 19 651816 651816 single base substitution C T downstream_gene_variant STAD-US 19 651816 651816 single base substitution C T exon_variant STAD-US 19 651816 651816 single base substitution C T intron_variant STAD-US 19 651816 651816 single base substitution C T missense_variant G69R 205G>A STAD-US 19 651816 651816 single base substitution C T missense_variant G80R 238G>A STAD-US 19 651816 651816 single base substitution C T upstream_gene_variant THCA-SA 19 647711 647711 single base substitution G A 3_prime_UTR_variant THCA-SA 19 647711 647711 single base substitution G A downstream_gene_variant THCA-SA 19 647711 647711 single base substitution G A exon_variant UCEC-US 19 647940 647940 single base substitution G A 3_prime_UTR_variant UCEC-US 19 647940 647940 single base substitution G A downstream_gene_variant UCEC-US 19 647940 647940 single base substitution G A exon_variant UCEC-US 19 651753 651753 single base substitution G T 3_prime_UTR_variant UCEC-US 19 651753 651753 single base substitution G T downstream_gene_variant UCEC-US 19 651753 651753 single base substitution G T exon_variant UCEC-US 19 651753 651753 single base substitution G T missense_variant Q101K 301C>A UCEC-US 19 651753 651753 single base substitution G T missense_variant Q68K 202C>A UCEC-US 19 651753 651753 single base substitution G T missense_variant Q86K 256C>A UCEC-US 19 651753 651753 single base substitution G T missense_variant Q90K 268C>A UCEC-US 19 651753 651753 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P24Tb-Tumor-Organoid COSM5365338 c.300G>A p.A100A Substitution - coding silent 19:651754-651754 - TCGA-AU-6004-01 COSM1396501 c.166G>T p.A56S Substitution - Missense 19:652265-652265 - T3246 COSM4721969 c.903G>A p.S301S Substitution - coding silent 19:648161-648161 - YUROG COSM3693185 c.123G>A p.P41P Substitution - coding silent 19:652837-652837 - TCGA-EE-A3JD-06 COSM4394943 c.112G>A p.E38K Substitution - Missense 19:652848-652848 - HCC16 COSM1613036 c.602G>T p.G201V Substitution - Missense 19:648950-648950 - TCGA-A6-5665-01 COSM1396338 c.902C>T p.S301L Substitution - Missense 19:648162-648162 - TCGA-P5-A5F4-01 COSM4908777 c.346C>G p.H116D Substitution - Missense 19:651708-651708 - LOVO COSM4614191 c.848_849insC p.G284fs*40 Insertion - Frameshift 19:648215-648216 - OSCC-GB_00290111 COSM3713082 c.161C>G p.S54C Substitution - Missense 19:652270-652270 - I2L-P24Tb-Tumor-Biopsy COSM5365338 c.300G>A p.A100A Substitution - coding silent 19:651754-651754 - HCT15 COSM3540960 c.383G>A p.R128H Substitution - Missense 19:651671-651671 - PTC-28C COSM3757393 c.193T>C p.L65L Substitution - coding silent 19:652238-652238 - TCGA-37-5819-01 COSM713999 c.97G>T p.E33* Substitution - Nonsense 19:652863-652863 - HCC33 COSM1613035 c.885A>T p.S295S Substitution - coding silent 19:648179-648179 - B9-Tumor COSM3933228 c.202G>A p.V68M Substitution - Missense 19:651852-651852 - RK308_C01 COSM3743187 c.660G>T p.E220D Substitution - Missense 19:648892-648892 - ESCC_5 COSM5623169 c.547G>T p.A183S Substitution - Missense 19:649708-649708 - TCGA-D7-A4YV-01 COSM4082591 c.238G>A p.G80R Substitution - Missense 19:651816-651816 - DLD1 COSM3540960 c.383G>A p.R128H Substitution - Missense 19:651671-651671 - HCC33T COSM1613035 c.885A>T p.S295S Substitution - coding silent 19:648179-648179 - HCC16T COSM1613037 c.601G>C p.G201R Substitution - Missense 19:648951-648951 - TCGA-R2-A69V-01 COSM4851185 c.306T>G p.A102A Substitution - coding silent 19:651748-651748 - HCT8 COSM3540960 c.383G>A p.R128H Substitution - Missense 19:651671-651671 - CN-AML-CR-60-Dx COSM3933228 c.202G>A p.V68M Substitution - Missense 19:651852-651852 - sysucc-311T COSM5464815 c.82A>G p.I28V Substitution - Missense 19:652878-652878 - 3N59-VS-3T59 COSM4984196 c.101C>T p.S34F Substitution - Missense 19:652859-652859 - ESO-0950 COSM1264341 c.299C>T p.A100V Substitution - Missense 19:651755-651755 - HCC16T COSM1613036 c.602G>T p.G201V Substitution - Missense 19:648950-648950 - BD135T COSM5516795 c.839C>T p.T280M Substitution - Missense 19:648225-648225 - CSCC-31-T COSM4485414 c.292C>T p.P98S Substitution - Missense 19:651762-651762 - S00339 COSM5657344 c.658G>T p.E220* Substitution - Nonsense 19:648894-648894 - 29T COSM3713082 c.161C>G p.S54C Substitution - Missense 19:652270-652270 - C0014T COSM4154408 c.702C>T p.D234D Substitution - coding silent 19:648456-648456 - TCGA-AD-6895-01 COSM1396346 c.727C>T p.R243W Substitution - Missense 19:648431-648431 - TCGA-DA-A1HV-06 COSM3540961 c.363G>A p.R121R Substitution - coding silent 19:651691-651691 - TCGA-AM-5821-01 COSM3693184 c.370G>A p.A124T Substitution - Missense 19:651684-651684 - TCGA-D3-A2JF-06 COSM3540962 c.322C>T p.P108S Substitution - Missense 19:651732-651732 - TCGA-A6-5661-01 COSM1396339 c.858T>C p.T286T Substitution - coding silent 19:648206-648206 - I2L-P24Ta-Tumor-Biopsy COSM5365338 c.300G>A p.A100A Substitution - coding silent 19:651754-651754 - PTC-7C COSM3757393 c.193T>C p.L65L Substitution - coding silent 19:652238-652238 - DLD1 COSM4624149 c.267C>T p.D89D Substitution - coding silent 19:651787-651787 - TCGA-EI-6507-01 COSM1564224 c.801_802insC p.V268fs*56 Insertion - Frameshift 19:648262-648263 - TCGA-AM-5820-01 COSM3757393 c.193T>C p.L65L Substitution - coding silent 19:652238-652238 - TCGA-D1-A103-01 COSM1002950 c.923C>T p.T308I Substitution - Missense 19:647940-647940 - OSCC-GB_00020111 COSM3713189 c.180G>C p.Q60H Substitution - Missense 19:652251-652251 - I2L-P24Ta-Tumor-Organoid COSM5365338 c.300G>A p.A100A Substitution - coding silent 19:651754-651754 - H650 COSM1194528 c.367G>A p.G123S Substitution - Missense 19:651687-651687 - HCC16 COSM1613037 c.601G>C p.G201R Substitution - Missense 19:648951-648951 - TCGA-C5-A1BK-01 COSM4826372 c.835G>T p.A279S Substitution - Missense 19:648229-648229 - 2T COSM3713189 c.180G>C p.Q60H Substitution - Missense 19:652251-652251 - T3503 COSM4721970 c.400C>T p.R134W Substitution - Missense 19:651654-651654 - TCGA-BH-A18G-01 COSM5218233 c.848delC p.P283fs*6 Deletion - Frameshift 19:648216-648216 - TCGA-B5-A11Y-01 COSM1002968 c.301C>A p.Q101K Substitution - Missense 19:651753-651753 - PTC-73C COSM4132738 c.891C>G p.S297S Substitution - coding silent 19:648173-648173 - DLD1 COSM4624148 c.296G>T p.G99V Substitution - Missense 19:651758-651758 - TCGA-D5-6928-01 COSM3693185 c.123G>A p.P41P Substitution - coding silent 19:652837-652837 - ESCC_132 COSM5642381 c.386C>G p.A129G Substitution - Missense 19:651668-651668 - sysucc-1370T COSM1264341 c.299C>T p.A100V Substitution - Missense 19:651755-651755 - TCGA-EB-A41A-01 COSM3540963 c.111C>T p.I37I Substitution - coding silent 19:652849-652849 - C086 COSM5538285 c.630C>T p.I210I Substitution - coding silent 19:648922-648922 - TCGA-D8-A1JA-01 COSM3836092 c.592G>C p.E198Q Substitution - Missense 19:648960-648960 - TCGA-GN-A266-06 COSM3540954 c.650C>T p.P217L Substitution - Missense 19:648902-648902 - TCGA-DK-A3IK-01 COSM1305264 c.601G>T p.G201C Substitution - Missense 19:648951-648951 - TCGA-FS-A1ZM-06 COSM3540960 c.383G>A p.R128H Substitution - Missense 19:651671-651671 - ESCC_133 COSM3693184 c.370G>A p.A124T Substitution - Missense 19:651684-651684 - TCGA-HU-8249-01 COSM4082581 c.666C>T p.H222H Substitution - coding silent 19:648886-648886 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.69554 19p13.3 2446774|CGAP|BC001442|A/G|coding|Thr280Thr|924|Candidate; 2446774|CGAP|BC025374|A/G|coding|Thr280Thr|878|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G201C c.601G>T 19 648951 BLCA C A Missense p.R128L c.383G>T 19 651671 HNSC C A Nonsense p.E33* c.97G>T 19 652863 LUSC C T Missense p.E38K c.112G>A 19 652848 CM C T Missense p.R128H c.383G>A 19 651671 CM G A Missense p.P108S c.322C>T 19 651732 CM G A Missense p.P98L c.293C>T 19 651761 CM G T Missense p.Q101K c.301C>A 19 651753 UCEC