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 4345772 4345772 + Missense_Mutation SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr19:4345772G>C c.325G>C c.(325-327)Gac>Cac p.D109H BLCA 19 4345878 4345878 + Missense_Mutation SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr19:4345878G>C c.431G>C c.(430-432)gGc>gCc p.G144A BLCA 19 4345913 4345913 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr19:4345913G>A c.466G>A c.(466-468)Gac>Aac p.D156N BLCA 19 4345945 4345945 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:4345945C>G c.498C>G c.(496-498)caC>caG p.H166Q BLCA 19 4352929 4352929 + Silent SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr19:4352929G>C c.567G>C c.(565-567)ctG>ctC p.L189L BLCA 19 4357549 4357549 + Missense_Mutation SNP G G C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr19:4357549G>C c.1203G>C c.(1201-1203)aaG>aaC p.K401N BLCA 19 4357557 4357557 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 g.chr19:4357557C>G c.1211C>G c.(1210-1212)cCt>cGt p.P404R BLCA 19 4357561 4357561 + Silent SNP C C T TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr19:4357561C>T c.1215C>T c.(1213-1215)ttC>ttT p.F405F BLCA 19 4359177 4359177 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr19:4359177C>T c.1254C>T c.(1252-1254)ttC>ttT p.F418F BLCA 19 4359188 4359188 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr19:4359188C>T c.1265C>T c.(1264-1266)tCc>tTc p.S422F BLCA 19 4359211 4359211 + Nonsense_Mutation SNP G G T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr19:4359211G>T c.1288G>T c.(1288-1290)Gaa>Taa p.E430* BRCA 19 4354359 4354359 + Missense_Mutation SNP C C A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 g.chr19:4354359C>A c.788C>A c.(787-789)gCc>gAc p.A263D COAD 19 4354087 4354087 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:4354087C>T c.710C>T c.(709-711)cCg>cTg p.P237L COAD 19 4354115 4354115 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:4354115C>T c.738C>T c.(736-738)cgC>cgT p.R246R COAD 19 4357272 4357272 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:4357272G>A c.1019G>A c.(1018-1020)cGg>cAg p.R340Q COAD 19 4359933 4359933 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:4359933G>A c.1350G>A c.(1348-1350)acG>acA p.T450T COAD 19 4359976 4359976 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:4359976G>A c.1393G>A c.(1393-1395)Ggc>Agc p.G465S COADREAD 19 4354087 4354087 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:4354087C>T c.710C>T c.(709-711)cCg>cTg p.P237L COADREAD 19 4354115 4354115 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:4354115C>T c.738C>T c.(736-738)cgC>cgT p.R246R COADREAD 19 4357272 4357272 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:4357272G>A c.1019G>A c.(1018-1020)cGg>cAg p.R340Q COADREAD 19 4359933 4359933 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:4359933G>A c.1350G>A c.(1348-1350)acG>acA p.T450T COADREAD 19 4359976 4359976 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr19:4359976G>A c.1393G>A c.(1393-1395)Ggc>Agc p.G465S ESCA 19 4357332 4357332 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:4357332T>C c.1079T>C c.(1078-1080)cTg>cCg p.L360P GBMLGG 19 4352926 4352926 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4352926G>A c.564G>A c.(562-564)ttG>ttA p.L188L GBMLGG 19 4357346 4357346 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr19:4357346G>A c.1093G>A c.(1093-1095)Gca>Aca p.A365T HNSC 19 4345805 4345805 + Missense_Mutation SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr19:4345805A>T c.358A>T c.(358-360)Acc>Tcc p.T120S HNSC 19 4357271 4357271 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 g.chr19:4357271C>T c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W HNSC 19 4357346 4357346 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr19:4357346G>A c.1093G>A c.(1093-1095)Gca>Aca p.A365T HNSC 19 4359198 4359198 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr19:4359198C>T c.1275C>T c.(1273-1275)ctC>ctT p.L425L KIPAN 19 4343749 4343749 + Missense_Mutation SNP C C A TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr19:4343749C>A c.52C>A c.(52-54)Ccg>Acg p.P18T KIPAN 19 4357350 4357351 + Frame_Shift_Del DEL AG AG - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357350_4357351delAG c.1097_1098delAG c.(1096-1098)cagfs p.Q366fs KIPAN 19 4357351 4357354 + Frame_Shift_Del DEL GATG GATG - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357351_4357354delGATG c.1098_1101delGATG c.(1096-1101)cagatgfs p.QM366fs KIPAN 19 4357354 4357354 + Frame_Shift_Del DEL G G - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357354delG c.1101delG c.(1099-1101)atgfs p.M367fs KIRP 19 4343749 4343749 + Missense_Mutation SNP C C A TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr19:4343749C>A c.52C>A c.(52-54)Ccg>Acg p.P18T KIRP 19 4357350 4357351 + Frame_Shift_Del DEL AG AG - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357350_4357351delAG c.1097_1098delAG c.(1096-1098)cagfs p.Q366fs KIRP 19 4357351 4357354 + Frame_Shift_Del DEL GATG GATG - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357351_4357354delGATG c.1098_1101delGATG c.(1096-1101)cagatgfs p.QM366fs KIRP 19 4357354 4357354 + Frame_Shift_Del DEL G G - TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:4357354delG c.1101delG c.(1099-1101)atgfs p.M367fs LAML 19 4354113 4354113 + Missense_Mutation SNP C C T TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 g.chr19:4354113C>T c.736C>T c.(736-738)Cgc>Tgc p.R246C LGG 19 4352926 4352926 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4352926G>A c.564G>A c.(562-564)ttG>ttA p.L188L LGG 19 4357346 4357346 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr19:4357346G>A c.1093G>A c.(1093-1095)Gca>Aca p.A365T LIHC 19 4345914 4345914 + Missense_Mutation SNP A A G TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr19:4345914A>G c.467A>G c.(466-468)gAc>gGc p.D156G LUSC 19 4352936 4352936 + Missense_Mutation SNP G G C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr19:4352936G>C c.574G>C c.(574-576)Gag>Cag p.E192Q LUSC 19 4355107 4355107 + Silent SNP C C G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr19:4355107C>G c.933C>G c.(931-933)ctC>ctG p.L311L SKCM 19 4354996 4354996 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr19:4354996C>T c.897C>T c.(895-897)ggC>ggT p.G299G SKCM 19 4359203 4359203 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:4359203G>A c.1280G>A c.(1279-1281)aGg>aAg p.R427K SKCM 19 4359204 4359204 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:4359204G>A c.1281G>A c.(1279-1281)agG>agA p.R427R SKCM 19 4359234 4359234 + Silent SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr19:4359234C>T c.1311C>T c.(1309-1311)acC>acT p.T437T

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 4362691 4362691 single base substitution G C downstream_gene_variant BLCA-US 19 4338736 4338736 single base substitution C T upstream_gene_variant BLCA-US 19 4345945 4345945 single base substitution C G exon_variant BLCA-US 19 4345945 4345945 single base substitution C G missense_variant H162Q 486C>G BLCA-US 19 4345945 4345945 single base substitution C G missense_variant H166Q 498C>G BLCA-US 19 4345945 4345945 single base substitution C G missense_variant H198Q 594C>G BLCA-US 19 4357557 4357557 single base substitution C G downstream_gene_variant BLCA-US 19 4357557 4357557 single base substitution C G exon_variant BLCA-US 19 4357557 4357557 single base substitution C G intron_variant BLCA-US 19 4357557 4357557 single base substitution C G missense_variant P354R 1061C>G BLCA-US 19 4357557 4357557 single base substitution C G missense_variant P371R 1112C>G BLCA-US 19 4357557 4357557 single base substitution C G missense_variant P404R 1211C>G BLCA-US 19 4357557 4357557 single base substitution C G missense_variant P436R 1307C>G BLCA-US 19 4359177 4359177 single base substitution C T 3_prime_UTR_variant BLCA-US 19 4359177 4359177 single base substitution C T downstream_gene_variant BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F398F 1194C>T BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F415F 1245C>T BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F418F 1254C>T BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F448F 1344C>T BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F450F 1350C>T BLCA-US 19 4359177 4359177 single base substitution C T synonymous_variant F56F 168C>T BLCA-US 19 4361711 4361711 single base substitution G A downstream_gene_variant BLCA-US 19 4362650 4362650 single base substitution G A downstream_gene_variant BLCA-US 19 4363777 4363777 single base substitution C G downstream_gene_variant BLCA-US 19 4363857 4363857 single base substitution C T downstream_gene_variant BLCA-US 19 4364106 4364106 single base substitution C T downstream_gene_variant BRCA-EU 19 4339901 4339901 single base substitution C T upstream_gene_variant BRCA-EU 19 4342614 4342614 single base substitution G A upstream_gene_variant BRCA-EU 19 4342645 4342645 single base substitution G A upstream_gene_variant BRCA-EU 19 4343007 4343007 single base substitution T C upstream_gene_variant BRCA-EU 19 4344820 4344820 single base substitution C T intron_variant BRCA-EU 19 4344826 4344826 single base substitution C T intron_variant BRCA-EU 19 4345596 4345596 single base substitution G C intron_variant BRCA-EU 19 4349848 4349848 single base substitution G A intron_variant BRCA-EU 19 4349848 4349848 single base substitution G A upstream_gene_variant BRCA-EU 19 4350970 4350970 single base substitution G A intron_variant BRCA-EU 19 4350970 4350970 single base substitution G A upstream_gene_variant BRCA-EU 19 4353138 4353138 single base substitution C A intron_variant BRCA-EU 19 4353138 4353138 single base substitution C A upstream_gene_variant BRCA-EU 19 4353363 4353363 single base substitution C G intron_variant BRCA-EU 19 4353363 4353363 single base substitution C G upstream_gene_variant BRCA-EU 19 4355328 4355328 single base substitution C T downstream_gene_variant BRCA-EU 19 4355328 4355328 single base substitution C T intron_variant BRCA-EU 19 4355453 4355453 single base substitution C A downstream_gene_variant BRCA-EU 19 4355453 4355453 single base substitution C A intron_variant BRCA-EU 19 4355723 4355723 single base substitution C T downstream_gene_variant BRCA-EU 19 4355723 4355723 single base substitution C T intron_variant BRCA-EU 19 4355724 4355724 single base substitution C T downstream_gene_variant BRCA-EU 19 4355724 4355724 single base substitution C T intron_variant BRCA-EU 19 4355741 4355741 single base substitution C T downstream_gene_variant BRCA-EU 19 4355741 4355741 single base substitution C T intron_variant BRCA-EU 19 4355810 4355810 single base substitution C T downstream_gene_variant BRCA-EU 19 4355810 4355810 single base substitution C T intron_variant BRCA-EU 19 4356210 4356210 single base substitution C T downstream_gene_variant BRCA-EU 19 4356210 4356210 single base substitution C T intron_variant BRCA-EU 19 4356264 4356264 single base substitution C T downstream_gene_variant BRCA-EU 19 4356264 4356264 single base substitution C T intron_variant BRCA-EU 19 4356331 4356331 single base substitution C T downstream_gene_variant BRCA-EU 19 4356331 4356331 single base substitution C T intron_variant BRCA-EU 19 4356339 4356339 single base substitution C T downstream_gene_variant BRCA-EU 19 4356339 4356339 single base substitution C T intron_variant BRCA-EU 19 4356528 4356528 single base substitution C T downstream_gene_variant BRCA-EU 19 4356528 4356528 single base substitution C T intron_variant BRCA-EU 19 4356608 4356608 single base substitution C T downstream_gene_variant BRCA-EU 19 4356608 4356608 single base substitution C T intron_variant BRCA-EU 19 4357282 4357282 single base substitution C G downstream_gene_variant BRCA-EU 19 4357282 4357282 single base substitution C G exon_variant BRCA-EU 19 4357282 4357282 single base substitution C G intron_variant BRCA-EU 19 4357282 4357282 single base substitution C G synonymous_variant S293S 879C>G BRCA-EU 19 4357282 4357282 single base substitution C G synonymous_variant S343S 1029C>G BRCA-EU 19 4357282 4357282 single base substitution C G synonymous_variant S375S 1125C>G BRCA-EU 19 4358127 4358127 single base substitution C G 3_prime_UTR_variant BRCA-EU 19 4358127 4358127 single base substitution C G downstream_gene_variant BRCA-EU 19 4358127 4358127 single base substitution C G intron_variant BRCA-EU 19 4358127 4358127 single base substitution C G stop_gained Y378* 1134C>G BRCA-EU 19 4358127 4358127 single base substitution C G stop_gained Y395* 1185C>G BRCA-EU 19 4358127 4358127 single base substitution C G stop_gained Y428* 1284C>G BRCA-EU 19 4358225 4358225 single base substitution G A downstream_gene_variant BRCA-EU 19 4358225 4358225 single base substitution G A intron_variant BRCA-EU 19 4358655 4358655 single base substitution G A downstream_gene_variant BRCA-EU 19 4358655 4358655 single base substitution G A intron_variant BRCA-EU 19 4360561 4360561 single base substitution G C downstream_gene_variant BRCA-EU 19 4364100 4364100 single base substitution G C downstream_gene_variant BRCA-EU 19 4364161 4364161 single base substitution G T downstream_gene_variant BRCA-EU 19 4364283 4364283 single base substitution C T downstream_gene_variant BRCA-FR 19 4342614 4342614 single base substitution G A upstream_gene_variant BRCA-FR 19 4342645 4342645 single base substitution G A upstream_gene_variant BRCA-FR 19 4343136 4343136 single base substitution C G upstream_gene_variant BRCA-FR 19 4344820 4344820 single base substitution C T intron_variant BRCA-FR 19 4344826 4344826 single base substitution C T intron_variant BRCA-FR 19 4345596 4345596 single base substitution G C intron_variant BRCA-FR 19 4347524 4347524 single base substitution C A intron_variant BRCA-FR 19 4358655 4358655 single base substitution G A downstream_gene_variant BRCA-FR 19 4358655 4358655 single base substitution G A intron_variant BRCA-FR 19 4361059 4361059 single base substitution G C downstream_gene_variant BRCA-FR 19 4361405 4361405 single base substitution C T downstream_gene_variant BRCA-FR 19 4364161 4364161 single base substitution G T downstream_gene_variant BRCA-KR 19 4355035 4355035 single base substitution A G downstream_gene_variant BRCA-KR 19 4355035 4355035 single base substitution A G intron_variant BRCA-UK 19 4356212 4356212 single base substitution C G downstream_gene_variant BRCA-UK 19 4356212 4356212 single base substitution C G intron_variant BRCA-UK 19 4356264 4356264 single base substitution C T downstream_gene_variant BRCA-UK 19 4356264 4356264 single base substitution C T intron_variant BRCA-UK 19 4356704 4356704 single base substitution C T downstream_gene_variant BRCA-UK 19 4356704 4356704 single base substitution C T intron_variant BRCA-UK 19 4356736 4356736 single base substitution C G downstream_gene_variant BRCA-UK 19 4356736 4356736 single base substitution C G intron_variant BRCA-US 19 4354359 4354359 single base substitution C A exon_variant BRCA-US 19 4354359 4354359 single base substitution C A missense_variant A259D 776C>A BRCA-US 19 4354359 4354359 single base substitution C A missense_variant A263D 788C>A BRCA-US 19 4354359 4354359 single base substitution C A missense_variant A295D 884C>A BRCA-US 19 4354359 4354359 single base substitution C A missense_variant A55D 164C>A BRCA-US 19 4354359 4354359 single base substitution C A upstream_gene_variant BRCA-US 19 4363740 4363740 insertion of <=200bp - G downstream_gene_variant BRCA-US 19 4364180 4364181 deletion of <=200bp GG - downstream_gene_variant BRCA-US 19 4364183 4364183 deletion of <=200bp G - downstream_gene_variant BTCA-JP 19 4352890 4352890 single base substitution G A splice_region_variant BTCA-JP 19 4352890 4352890 single base substitution G A upstream_gene_variant BTCA-JP 19 4359269 4359269 single base substitution C T downstream_gene_variant BTCA-JP 19 4359269 4359269 single base substitution C T intron_variant BTCA-JP 19 4361710 4361710 single base substitution C T downstream_gene_variant CESC-US 19 4361723 4361723 single base substitution G A downstream_gene_variant CESC-US 19 4362348 4362348 single base substitution G C downstream_gene_variant CESC-US 19 4362616 4362616 single base substitution C G downstream_gene_variant CESC-US 19 4363916 4363916 single base substitution G A downstream_gene_variant CESC-US 19 4364097 4364097 single base substitution C T downstream_gene_variant CLLE-ES 19 4339058 4339058 single base substitution T C upstream_gene_variant CLLE-ES 19 4357667 4357667 single base substitution G C downstream_gene_variant CLLE-ES 19 4357667 4357667 single base substitution G C intron_variant COAD-US 19 4354115 4354115 single base substitution C T exon_variant COAD-US 19 4354115 4354115 single base substitution C T synonymous_variant R242R 726C>T COAD-US 19 4354115 4354115 single base substitution C T synonymous_variant R246R 738C>T COAD-US 19 4354115 4354115 single base substitution C T synonymous_variant R278R 834C>T COAD-US 19 4354115 4354115 single base substitution C T synonymous_variant R38R 114C>T COAD-US 19 4354115 4354115 single base substitution C T upstream_gene_variant COAD-US 19 4357272 4357272 single base substitution G A downstream_gene_variant COAD-US 19 4357272 4357272 single base substitution G A exon_variant COAD-US 19 4357272 4357272 single base substitution G A intron_variant COAD-US 19 4357272 4357272 single base substitution G A missense_variant R290Q 869G>A COAD-US 19 4357272 4357272 single base substitution G A missense_variant R340Q 1019G>A COAD-US 19 4357272 4357272 single base substitution G A missense_variant R372Q 1115G>A COAD-US 19 4359976 4359976 single base substitution G A downstream_gene_variant COAD-US 19 4359976 4359976 single base substitution G A missense_variant G103S 307G>A COAD-US 19 4359976 4359976 single base substitution G A missense_variant G445S 1333G>A COAD-US 19 4359976 4359976 single base substitution G A missense_variant G462S 1384G>A COAD-US 19 4359976 4359976 single base substitution G A missense_variant G465S 1393G>A COAD-US 19 4359976 4359976 single base substitution G A missense_variant G495S 1483G>A COAD-US 19 4359976 4359976 single base substitution G A missense_variant G497S 1489G>A COAD-US 19 4362335 4362335 single base substitution G A downstream_gene_variant COCA-CN 19 4352959 4352959 single base substitution A G exon_variant COCA-CN 19 4352959 4352959 single base substitution A G synonymous_variant A195A 585A>G COCA-CN 19 4352959 4352959 single base substitution A G synonymous_variant A199A 597A>G COCA-CN 19 4352959 4352959 single base substitution A G synonymous_variant A231A 693A>G COCA-CN 19 4352959 4352959 single base substitution A G upstream_gene_variant COCA-CN 19 4353908 4353908 single base substitution C A intron_variant COCA-CN 19 4353908 4353908 single base substitution C A upstream_gene_variant COCA-CN 19 4354997 4354997 single base substitution C A downstream_gene_variant COCA-CN 19 4354997 4354997 single base substitution C A exon_variant COCA-CN 19 4354997 4354997 single base substitution C A intron_variant COCA-CN 19 4354997 4354997 single base substitution C A missense_variant R18S 52C>A COCA-CN 19 4354997 4354997 single base substitution C A missense_variant R296S 886C>A COCA-CN 19 4354997 4354997 single base substitution C A missense_variant R300S 898C>A COCA-CN 19 4354997 4354997 single base substitution C A missense_variant R332S 994C>A COCA-CN 19 4355035 4355035 single base substitution A G downstream_gene_variant COCA-CN 19 4355035 4355035 single base substitution A G intron_variant COCA-CN 19 4355054 4355054 single base substitution A G downstream_gene_variant COCA-CN 19 4355054 4355054 single base substitution A G intron_variant COCA-CN 19 4361636 4361636 single base substitution C T downstream_gene_variant COCA-CN 19 4362749 4362749 single base substitution C T downstream_gene_variant EOPC-DE 19 4355734 4355734 single base substitution G C downstream_gene_variant EOPC-DE 19 4355734 4355734 single base substitution G C intron_variant ESAD-UK 19 4341816 4341816 single base substitution T G upstream_gene_variant ESAD-UK 19 4345541 4345541 single base substitution G T intron_variant ESAD-UK 19 4350026 4350026 insertion of <=200bp - A intron_variant ESAD-UK 19 4350026 4350026 insertion of <=200bp - A upstream_gene_variant ESAD-UK 19 4350075 4350075 single base substitution G A intron_variant ESAD-UK 19 4350075 4350075 single base substitution G A upstream_gene_variant ESAD-UK 19 4350088 4350088 single base substitution G A intron_variant ESAD-UK 19 4350088 4350088 single base substitution G A upstream_gene_variant ESAD-UK 19 4354300 4354300 single base substitution C T intron_variant ESAD-UK 19 4354300 4354300 single base substitution C T upstream_gene_variant ESAD-UK 19 4354597 4354597 single base substitution C G downstream_gene_variant ESAD-UK 19 4354597 4354597 single base substitution C G intron_variant ESAD-UK 19 4354597 4354597 single base substitution C G upstream_gene_variant ESAD-UK 19 4355139 4355139 single base substitution A G downstream_gene_variant ESAD-UK 19 4355139 4355139 single base substitution A G exon_variant ESAD-UK 19 4355139 4355139 single base substitution A G intron_variant ESAD-UK 19 4355139 4355139 single base substitution A G missense_variant D318G 953A>G ESAD-UK 19 4355139 4355139 single base substitution A G missense_variant D322G 965A>G ESAD-UK 19 4355139 4355139 single base substitution A G missense_variant D354G 1061A>G ESAD-UK 19 4355139 4355139 single base substitution A G missense_variant D40G 119A>G ESAD-UK 19 4359025 4359025 single base substitution C T downstream_gene_variant ESAD-UK 19 4359025 4359025 single base substitution C T intron_variant ESAD-UK 19 4360306 4360306 single base substitution C T downstream_gene_variant ESAD-UK 19 4360855 4360855 single base substitution G A downstream_gene_variant ESAD-UK 19 4361201 4361201 single base substitution G A downstream_gene_variant ESAD-UK 19 4363993 4363993 single base substitution A T downstream_gene_variant ESAD-UK 19 4364254 4364254 single base substitution G C downstream_gene_variant ESCA-CN 19 4338554 4338554 single base substitution G C upstream_gene_variant ESCA-CN 19 4338562 4338562 single base substitution T C upstream_gene_variant ESCA-CN 19 4352837 4352837 insertion of <=200bp - A intron_variant ESCA-CN 19 4352837 4352837 insertion of <=200bp - A upstream_gene_variant KIRC-US 19 4363420 4363420 single base substitution G A downstream_gene_variant KIRC-US 19 4363421 4363421 single base substitution T C downstream_gene_variant LAML-KR 19 4348061 4348061 single base substitution A G intron_variant LAML-KR 19 4348061 4348061 single base substitution A G upstream_gene_variant LAML-KR 19 4351891 4351891 single base substitution T C intron_variant LAML-KR 19 4351891 4351891 single base substitution T C upstream_gene_variant LAML-KR 19 4364346 4364346 single base substitution G T downstream_gene_variant LGG-US 19 4357346 4357346 single base substitution G A downstream_gene_variant LGG-US 19 4357346 4357346 single base substitution G A exon_variant LGG-US 19 4357346 4357346 single base substitution G A intron_variant LGG-US 19 4357346 4357346 single base substitution G A missense_variant A315T 943G>A LGG-US 19 4357346 4357346 single base substitution G A missense_variant A332T 994G>A LGG-US 19 4357346 4357346 single base substitution G A missense_variant A365T 1093G>A LGG-US 19 4357346 4357346 single base substitution G A missense_variant A397T 1189G>A LICA-CN 19 4361791 4361791 single base substitution G A downstream_gene_variant LICA-FR 19 4355578 4355578 single base substitution C T downstream_gene_variant LICA-FR 19 4355578 4355578 single base substitution C T intron_variant LICA-FR 19 4362711 4362711 single base substitution G A downstream_gene_variant LIHC-US 19 4361758 4361758 single base substitution C G downstream_gene_variant LINC-JP 19 4338703 4338703 single base substitution G C upstream_gene_variant LINC-JP 19 4348251 4348251 single base substitution C T intron_variant LINC-JP 19 4348251 4348251 single base substitution C T upstream_gene_variant LINC-JP 19 4350654 4350654 single base substitution G A intron_variant LINC-JP 19 4350654 4350654 single base substitution G A upstream_gene_variant LINC-JP 19 4357385 4357385 single base substitution A G downstream_gene_variant LINC-JP 19 4357385 4357385 single base substitution A G exon_variant LINC-JP 19 4357385 4357385 single base substitution A G intron_variant LINC-JP 19 4357385 4357385 single base substitution A G missense_variant N328D 982A>G LINC-JP 19 4357385 4357385 single base substitution A G missense_variant N345D 1033A>G LINC-JP 19 4357385 4357385 single base substitution A G missense_variant N378D 1132A>G LINC-JP 19 4357385 4357385 single base substitution A G missense_variant N410D 1228A>G LINC-JP 19 4359038 4359038 single base substitution T A downstream_gene_variant LINC-JP 19 4359038 4359038 single base substitution T A intron_variant LINC-JP 19 4362675 4362675 single base substitution A C downstream_gene_variant LIRI-JP 19 4340223 4340223 single base substitution G C upstream_gene_variant LIRI-JP 19 4342558 4342558 single base substitution G C upstream_gene_variant LIRI-JP 19 4348608 4348608 deletion of <=200bp G - intron_variant LIRI-JP 19 4348608 4348608 deletion of <=200bp G - upstream_gene_variant LIRI-JP 19 4354186 4354186 single base substitution G C intron_variant LIRI-JP 19 4354186 4354186 single base substitution G C upstream_gene_variant LIRI-JP 19 4357806 4357806 single base substitution T C downstream_gene_variant LIRI-JP 19 4357806 4357806 single base substitution T C intron_variant LIRI-JP 19 4358128 4358128 single base substitution G A 3_prime_UTR_variant LIRI-JP 19 4358128 4358128 single base substitution G A downstream_gene_variant LIRI-JP 19 4358128 4358128 single base substitution G A intron_variant LIRI-JP 19 4358128 4358128 single base substitution G A missense_variant V379I 1135G>A LIRI-JP 19 4358128 4358128 single base substitution G A missense_variant V396I 1186G>A LIRI-JP 19 4358128 4358128 single base substitution G A missense_variant V429I 1285G>A LIRI-JP 19 4359483 4359483 insertion of <=200bp - T downstream_gene_variant LIRI-JP 19 4359483 4359483 insertion of <=200bp - T intron_variant LIRI-JP 19 4362943 4362943 single base substitution G C downstream_gene_variant LUSC-KR 19 4339840 4339840 single base substitution G T upstream_gene_variant LUSC-KR 19 4343866 4343866 single base substitution G C exon_variant LUSC-KR 19 4343866 4343866 single base substitution G C missense_variant G53R 157G>C LUSC-KR 19 4343866 4343866 single base substitution G C missense_variant G57R 169G>C LUSC-KR 19 4343866 4343866 single base substitution G C missense_variant G89R 265G>C LUSC-KR 19 4345079 4345079 single base substitution C T intron_variant LUSC-KR 19 4346175 4346175 single base substitution G C intron_variant LUSC-KR 19 4347553 4347553 single base substitution C T intron_variant LUSC-KR 19 4353675 4353675 single base substitution C T intron_variant LUSC-KR 19 4353675 4353675 single base substitution C T upstream_gene_variant LUSC-KR 19 4354252 4354252 single base substitution G A intron_variant LUSC-KR 19 4354252 4354252 single base substitution G A upstream_gene_variant LUSC-KR 19 4355203 4355203 single base substitution G A downstream_gene_variant LUSC-KR 19 4355203 4355203 single base substitution G A intron_variant LUSC-KR 19 4355356 4355356 single base substitution G A downstream_gene_variant LUSC-KR 19 4355356 4355356 single base substitution G A intron_variant LUSC-US 19 4352936 4352936 single base substitution G C exon_variant LUSC-US 19 4352936 4352936 single base substitution G C missense_variant E188Q 562G>C LUSC-US 19 4352936 4352936 single base substitution G C missense_variant E192Q 574G>C LUSC-US 19 4352936 4352936 single base substitution G C missense_variant E224Q 670G>C LUSC-US 19 4352936 4352936 single base substitution G C upstream_gene_variant LUSC-US 19 4355107 4355107 single base substitution C G downstream_gene_variant LUSC-US 19 4355107 4355107 single base substitution C G exon_variant LUSC-US 19 4355107 4355107 single base substitution C G intron_variant LUSC-US 19 4355107 4355107 single base substitution C G synonymous_variant L29L 87C>G LUSC-US 19 4355107 4355107 single base substitution C G synonymous_variant L307L 921C>G LUSC-US 19 4355107 4355107 single base substitution C G synonymous_variant L311L 933C>G LUSC-US 19 4355107 4355107 single base substitution C G synonymous_variant L343L 1029C>G LUSC-US 19 4361705 4361705 single base substitution G C downstream_gene_variant MALY-DE 19 4345936 4345936 single base substitution C A exon_variant MALY-DE 19 4345936 4345936 single base substitution C A synonymous_variant L159L 477C>A MALY-DE 19 4345936 4345936 single base substitution C A synonymous_variant L163L 489C>A MALY-DE 19 4345936 4345936 single base substitution C A synonymous_variant L195L 585C>A MALY-DE 19 4350970 4350970 single base substitution G A intron_variant MALY-DE 19 4350970 4350970 single base substitution G A upstream_gene_variant MALY-DE 19 4352174 4352174 insertion of <=200bp - A intron_variant MALY-DE 19 4352174 4352174 insertion of <=200bp - A upstream_gene_variant MALY-DE 19 4355049 4355049 single base substitution G A downstream_gene_variant MALY-DE 19 4355049 4355049 single base substitution G A intron_variant MALY-DE 19 4363821 4363821 single base substitution G A downstream_gene_variant MALY-DE 19 4364072 4364072 single base substitution G A downstream_gene_variant MELA-AU 19 4339504 4339504 single base substitution C T upstream_gene_variant MELA-AU 19 4340096 4340096 single base substitution G A upstream_gene_variant MELA-AU 19 4340135 4340135 single base substitution C T upstream_gene_variant MELA-AU 19 4340683 4340683 single base substitution C T upstream_gene_variant MELA-AU 19 4340690 4340690 single base substitution G A upstream_gene_variant MELA-AU 19 4340764 4340764 single base substitution G A upstream_gene_variant MELA-AU 19 4340890 4340890 single base substitution T G upstream_gene_variant MELA-AU 19 4341152 4341152 single base substitution C T upstream_gene_variant MELA-AU 19 4341193 4341193 single base substitution C T upstream_gene_variant MELA-AU 19 4341270 4341270 single base substitution G A upstream_gene_variant MELA-AU 19 4341325 4341325 single base substitution C T upstream_gene_variant MELA-AU 19 4342774 4342774 single base substitution G A upstream_gene_variant MELA-AU 19 4342822 4342822 single base substitution C G upstream_gene_variant MELA-AU 19 4342824 4342824 single base substitution C T upstream_gene_variant MELA-AU 19 4342832 4342832 single base substitution G A upstream_gene_variant MELA-AU 19 4342918 4342918 single base substitution G A upstream_gene_variant MELA-AU 19 4343363 4343363 single base substitution C T upstream_gene_variant MELA-AU 19 4343418 4343418 single base substitution C T upstream_gene_variant MELA-AU 19 4343512 4343512 single base substitution C T upstream_gene_variant MELA-AU 19 4344311 4344311 single base substitution G A intron_variant MELA-AU 19 4344362 4344362 single base substitution G A intron_variant MELA-AU 19 4344365 4344365 single base substitution G T intron_variant MELA-AU 19 4344542 4344542 single base substitution A T intron_variant MELA-AU 19 4344877 4344877 single base substitution G A intron_variant MELA-AU 19 4345075 4345075 single base substitution C T intron_variant MELA-AU 19 4345324 4345324 single base substitution G A intron_variant MELA-AU 19 4345799 4345799 single base substitution G A exon_variant MELA-AU 19 4345799 4345799 single base substitution G A missense_variant G114R 340G>A MELA-AU 19 4345799 4345799 single base substitution G A missense_variant G118R 352G>A MELA-AU 19 4345799 4345799 single base substitution G A missense_variant G150R 448G>A MELA-AU 19 4345930 4345930 single base substitution C T exon_variant MELA-AU 19 4345930 4345930 single base substitution C T synonymous_variant T157T 471C>T MELA-AU 19 4345930 4345930 single base substitution C T synonymous_variant T161T 483C>T MELA-AU 19 4345930 4345930 single base substitution C T synonymous_variant T193T 579C>T MELA-AU 19 4346775 4346775 single base substitution C T intron_variant MELA-AU 19 4346776 4346776 single base substitution C T intron_variant MELA-AU 19 4347097 4347097 single base substitution G A intron_variant MELA-AU 19 4347261 4347261 single base substitution G A intron_variant MELA-AU 19 4347326 4347326 single base substitution C T intron_variant MELA-AU 19 4347392 4347392 single base substitution C T intron_variant MELA-AU 19 4348292 4348292 single base substitution C T intron_variant MELA-AU 19 4348292 4348292 single base substitution C T upstream_gene_variant MELA-AU 19 4348340 4348340 single base substitution C T intron_variant MELA-AU 19 4348340 4348340 single base substitution C T upstream_gene_variant MELA-AU 19 4348743 4348743 single base substitution C T intron_variant MELA-AU 19 4348743 4348743 single base substitution C T upstream_gene_variant MELA-AU 19 4348747 4348747 single base substitution C T intron_variant MELA-AU 19 4348747 4348747 single base substitution C T upstream_gene_variant MELA-AU 19 4348904 4348904 single base substitution A C intron_variant MELA-AU 19 4348904 4348904 single base substitution A C upstream_gene_variant MELA-AU 19 4348946 4348947 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 4348946 4348947 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 4350283 4350283 single base substitution G A intron_variant MELA-AU 19 4350283 4350283 single base substitution G A upstream_gene_variant MELA-AU 19 4352206 4352206 single base substitution C T intron_variant MELA-AU 19 4352206 4352206 single base substitution C T upstream_gene_variant MELA-AU 19 4352750 4352750 single base substitution C T intron_variant MELA-AU 19 4352750 4352750 single base substitution C T upstream_gene_variant MELA-AU 19 4353254 4353254 single base substitution T G intron_variant MELA-AU 19 4353254 4353254 single base substitution T G upstream_gene_variant MELA-AU 19 4355162 4355162 single base substitution G A downstream_gene_variant MELA-AU 19 4355162 4355162 single base substitution G A exon_variant MELA-AU 19 4355162 4355162 single base substitution G A intron_variant MELA-AU 19 4355162 4355162 single base substitution G A missense_variant E326K 976G>A MELA-AU 19 4355162 4355162 single base substitution G A missense_variant E330K 988G>A MELA-AU 19 4355162 4355162 single base substitution G A missense_variant E362K 1084G>A MELA-AU 19 4355162 4355162 single base substitution G A missense_variant E48K 142G>A MELA-AU 19 4357479 4357479 single base substitution C T downstream_gene_variant MELA-AU 19 4357479 4357479 single base substitution C T intron_variant MELA-AU 19 4358142 4358142 single base substitution C T 3_prime_UTR_variant MELA-AU 19 4358142 4358142 single base substitution C T downstream_gene_variant MELA-AU 19 4358142 4358142 single base substitution C T intron_variant MELA-AU 19 4358142 4358142 single base substitution C T synonymous_variant F383F 1149C>T MELA-AU 19 4358142 4358142 single base substitution C T synonymous_variant F400F 1200C>T MELA-AU 19 4358142 4358142 single base substitution C T synonymous_variant F433F 1299C>T MELA-AU 19 4359234 4359234 single base substitution C T downstream_gene_variant MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T417T 1251C>T MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T434T 1302C>T MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T437T 1311C>T MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T467T 1401C>T MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T469T 1407C>T MELA-AU 19 4359234 4359234 single base substitution C T synonymous_variant T75T 225C>T MELA-AU 19 4361116 4361117 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 4361159 4361159 single base substitution G A downstream_gene_variant MELA-AU 19 4361561 4361561 single base substitution G A downstream_gene_variant MELA-AU 19 4362454 4362455 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 4362583 4362583 single base substitution C T downstream_gene_variant MELA-AU 19 4362727 4362727 single base substitution C T downstream_gene_variant MELA-AU 19 4364042 4364042 single base substitution G A downstream_gene_variant MELA-AU 19 4364714 4364714 single base substitution C T downstream_gene_variant MELA-AU 19 4364823 4364823 single base substitution G A downstream_gene_variant ORCA-IN 19 4349269 4349269 single base substitution C A intron_variant ORCA-IN 19 4349269 4349269 single base substitution C A upstream_gene_variant ORCA-IN 19 4360995 4360995 single base substitution G C downstream_gene_variant OV-AU 19 4342043 4342043 single base substitution A G upstream_gene_variant OV-AU 19 4353146 4353146 single base substitution G C intron_variant OV-AU 19 4353146 4353146 single base substitution G C upstream_gene_variant OV-AU 19 4354129 4354129 single base substitution C G splice_region_variant OV-AU 19 4354129 4354129 single base substitution C G upstream_gene_variant OV-AU 19 4354272 4354272 single base substitution G A intron_variant OV-AU 19 4354272 4354272 single base substitution G A upstream_gene_variant OV-AU 19 4363345 4363345 single base substitution G C downstream_gene_variant OV-AU 19 4363434 4363434 single base substitution C T downstream_gene_variant OV-US 19 4362368 4362368 single base substitution G A downstream_gene_variant PACA-AU 19 4341646 4341646 single base substitution C A upstream_gene_variant PACA-AU 19 4342844 4342844 single base substitution T G upstream_gene_variant PACA-AU 19 4347475 4347475 single base substitution A T intron_variant PACA-AU 19 4347907 4347907 single base substitution G C intron_variant PACA-AU 19 4348821 4348821 deletion of <=200bp T - intron_variant PACA-AU 19 4348821 4348821 deletion of <=200bp T - upstream_gene_variant PACA-AU 19 4355161 4355161 single base substitution C T downstream_gene_variant PACA-AU 19 4355161 4355161 single base substitution C T exon_variant PACA-AU 19 4355161 4355161 single base substitution C T intron_variant PACA-AU 19 4355161 4355161 single base substitution C T synonymous_variant I325I 975C>T PACA-AU 19 4355161 4355161 single base substitution C T synonymous_variant I329I 987C>T PACA-AU 19 4355161 4355161 single base substitution C T synonymous_variant I361I 1083C>T PACA-AU 19 4355161 4355161 single base substitution C T synonymous_variant I47I 141C>T PACA-AU 19 4355676 4355676 single base substitution C G downstream_gene_variant PACA-AU 19 4355676 4355676 single base substitution C G intron_variant PACA-AU 19 4360375 4360375 single base substitution G T downstream_gene_variant PACA-AU 19 4360376 4360376 single base substitution A C downstream_gene_variant PACA-AU 19 4361804 4361804 single base substitution G A downstream_gene_variant PACA-CA 19 4342793 4342793 deletion of <=200bp C - upstream_gene_variant PACA-CA 19 4342913 4342913 single base substitution A G upstream_gene_variant PACA-CA 19 4346036 4346036 single base substitution C G intron_variant PACA-CA 19 4350082 4350082 deletion of <=200bp G - intron_variant PACA-CA 19 4350082 4350082 deletion of <=200bp G - upstream_gene_variant PACA-CA 19 4352838 4352838 deletion of <=200bp C - intron_variant PACA-CA 19 4352838 4352838 deletion of <=200bp C - upstream_gene_variant PACA-CA 19 4355035 4355035 single base substitution A G downstream_gene_variant PACA-CA 19 4355035 4355035 single base substitution A G intron_variant PACA-CA 19 4358248 4358248 single base substitution G A downstream_gene_variant PACA-CA 19 4358248 4358248 single base substitution G A intron_variant PACA-CA 19 4358794 4358794 single base substitution C A downstream_gene_variant PACA-CA 19 4358794 4358794 single base substitution C A intron_variant PACA-CA 19 4359561 4359561 single base substitution C G downstream_gene_variant PACA-CA 19 4359561 4359561 single base substitution C G intron_variant PACA-CA 19 4360434 4360434 single base substitution G A downstream_gene_variant PACA-CA 19 4361738 4361738 single base substitution G A downstream_gene_variant PACA-CA 19 4362310 4362310 single base substitution G A downstream_gene_variant PAEN-AU 19 4342253 4342253 single base substitution G T upstream_gene_variant PAEN-AU 19 4347893 4347893 single base substitution T G intron_variant PAEN-AU 19 4355578 4355578 single base substitution C T downstream_gene_variant PAEN-AU 19 4355578 4355578 single base substitution C T intron_variant PAEN-AU 19 4355584 4355584 single base substitution A G downstream_gene_variant PAEN-AU 19 4355584 4355584 single base substitution A G intron_variant PAEN-AU 19 4355657 4355657 single base substitution A G downstream_gene_variant PAEN-AU 19 4355657 4355657 single base substitution A G intron_variant PAEN-IT 19 4338833 4338833 single base substitution G C upstream_gene_variant PAEN-IT 19 4350942 4350942 single base substitution C T intron_variant PAEN-IT 19 4350942 4350942 single base substitution C T upstream_gene_variant PAEN-IT 19 4358640 4358640 single base substitution C T downstream_gene_variant PAEN-IT 19 4358640 4358640 single base substitution C T intron_variant PBCA-DE 19 4348335 4348335 single base substitution G T intron_variant PBCA-DE 19 4348335 4348335 single base substitution G T upstream_gene_variant PBCA-DE 19 4355035 4355035 single base substitution A G downstream_gene_variant PBCA-DE 19 4355035 4355035 single base substitution A G intron_variant PBCA-DE 19 4355054 4355054 single base substitution A G downstream_gene_variant PBCA-DE 19 4355054 4355054 single base substitution A G intron_variant PBCA-DE 19 4361422 4361422 single base substitution A T downstream_gene_variant PBCA-DE 19 4364091 4364091 single base substitution C A downstream_gene_variant PRAD-CA 19 4341656 4341656 single base substitution A T upstream_gene_variant PRAD-UK 19 4348798 4348798 single base substitution C T intron_variant PRAD-UK 19 4348798 4348798 single base substitution C T upstream_gene_variant READ-US 19 4361648 4361648 single base substitution C T downstream_gene_variant READ-US 19 4362657 4362657 single base substitution C G downstream_gene_variant RECA-EU 19 4357785 4357785 single base substitution C G downstream_gene_variant RECA-EU 19 4357785 4357785 single base substitution C G intron_variant SKCA-BR 19 4338549 4338549 single base substitution A C upstream_gene_variant SKCA-BR 19 4338562 4338562 single base substitution T C upstream_gene_variant SKCA-BR 19 4338639 4338639 single base substitution C T upstream_gene_variant SKCA-BR 19 4338920 4338920 single base substitution T C upstream_gene_variant SKCA-BR 19 4341077 4341077 single base substitution C T upstream_gene_variant SKCA-BR 19 4341077 4341078 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 19 4341078 4341078 single base substitution G T upstream_gene_variant SKCA-BR 19 4341086 4341086 single base substitution G T upstream_gene_variant SKCA-BR 19 4342020 4342032 deletion of <=200bp CAAAAAAAAAAAA - upstream_gene_variant SKCA-BR 19 4343876 4343876 single base substitution C G exon_variant SKCA-BR 19 4343876 4343876 single base substitution C G missense_variant A56G 167C>G SKCA-BR 19 4343876 4343876 single base substitution C G missense_variant A60G 179C>G SKCA-BR 19 4343876 4343876 single base substitution C G missense_variant A92G 275C>G SKCA-BR 19 4344592 4344592 single base substitution A C intron_variant SKCA-BR 19 4345487 4345487 single base substitution C T intron_variant SKCA-BR 19 4351941 4351941 single base substitution A G intron_variant SKCA-BR 19 4351941 4351941 single base substitution A G upstream_gene_variant SKCA-BR 19 4355198 4355198 single base substitution C T downstream_gene_variant SKCA-BR 19 4355198 4355198 single base substitution C T intron_variant SKCA-BR 19 4355333 4355333 insertion of <=200bp - CTTT downstream_gene_variant SKCA-BR 19 4355333 4355333 insertion of <=200bp - CTTT intron_variant SKCA-BR 19 4356270 4356270 single base substitution C T downstream_gene_variant SKCA-BR 19 4356270 4356270 single base substitution C T intron_variant SKCA-BR 19 4361080 4361080 single base substitution T A downstream_gene_variant SKCA-BR 19 4361921 4361921 single base substitution A C downstream_gene_variant SKCA-BR 19 4362531 4362531 single base substitution G A downstream_gene_variant SKCM-US 19 4354996 4354996 single base substitution C T downstream_gene_variant SKCM-US 19 4354996 4354996 single base substitution C T exon_variant SKCM-US 19 4354996 4354996 single base substitution C T intron_variant SKCM-US 19 4354996 4354996 single base substitution C T synonymous_variant G17G 51C>T SKCM-US 19 4354996 4354996 single base substitution C T synonymous_variant G295G 885C>T SKCM-US 19 4354996 4354996 single base substitution C T synonymous_variant G299G 897C>T SKCM-US 19 4354996 4354996 single base substitution C T synonymous_variant G331G 993C>T SKCM-US 19 4355162 4355162 single base substitution G A downstream_gene_variant SKCM-US 19 4355162 4355162 single base substitution G A exon_variant SKCM-US 19 4355162 4355162 single base substitution G A intron_variant SKCM-US 19 4355162 4355162 single base substitution G A missense_variant E326K 976G>A SKCM-US 19 4355162 4355162 single base substitution G A missense_variant E330K 988G>A SKCM-US 19 4355162 4355162 single base substitution G A missense_variant E362K 1084G>A SKCM-US 19 4355162 4355162 single base substitution G A missense_variant E48K 142G>A SKCM-US 19 4359234 4359234 single base substitution C T downstream_gene_variant SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T417T 1251C>T SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T434T 1302C>T SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T437T 1311C>T SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T467T 1401C>T SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T469T 1407C>T SKCM-US 19 4359234 4359234 single base substitution C T synonymous_variant T75T 225C>T SKCM-US 19 4361744 4361744 single base substitution C T downstream_gene_variant SKCM-US 19 4363385 4363385 single base substitution G A downstream_gene_variant SKCM-US 19 4363408 4363408 single base substitution G A downstream_gene_variant SKCM-US 19 4363800 4363800 single base substitution C T downstream_gene_variant SKCM-US 19 4364151 4364151 single base substitution G A downstream_gene_variant SKCM-US 19 4364187 4364187 single base substitution C A downstream_gene_variant STAD-US 19 4345893 4345893 single base substitution A C exon_variant STAD-US 19 4345893 4345893 single base substitution A C missense_variant K145T 434A>C STAD-US 19 4345893 4345893 single base substitution A C missense_variant K149T 446A>C STAD-US 19 4345893 4345893 single base substitution A C missense_variant K181T 542A>C STAD-US 19 4345956 4345956 single base substitution C T exon_variant STAD-US 19 4345956 4345956 single base substitution C T missense_variant T166M 497C>T STAD-US 19 4345956 4345956 single base substitution C T missense_variant T170M 509C>T STAD-US 19 4345956 4345956 single base substitution C T missense_variant T202M 605C>T STAD-US 19 4355005 4355005 single base substitution C T downstream_gene_variant STAD-US 19 4355005 4355005 single base substitution C T exon_variant STAD-US 19 4355005 4355005 single base substitution C T intron_variant STAD-US 19 4355005 4355005 single base substitution C T synonymous_variant D20D 60C>T STAD-US 19 4355005 4355005 single base substitution C T synonymous_variant D298D 894C>T STAD-US 19 4355005 4355005 single base substitution C T synonymous_variant D302D 906C>T STAD-US 19 4355005 4355005 single base substitution C T synonymous_variant D334D 1002C>T STAD-US 19 4357345 4357345 single base substitution C T downstream_gene_variant STAD-US 19 4357345 4357345 single base substitution C T exon_variant STAD-US 19 4357345 4357345 single base substitution C T intron_variant STAD-US 19 4357345 4357345 single base substitution C T synonymous_variant D314D 942C>T STAD-US 19 4357345 4357345 single base substitution C T synonymous_variant D331D 993C>T STAD-US 19 4357345 4357345 single base substitution C T synonymous_variant D364D 1092C>T STAD-US 19 4357345 4357345 single base substitution C T synonymous_variant D396D 1188C>T STAD-US 19 4357372 4357372 single base substitution G A downstream_gene_variant STAD-US 19 4357372 4357372 single base substitution G A exon_variant STAD-US 19 4357372 4357372 single base substitution G A intron_variant STAD-US 19 4357372 4357372 single base substitution G A synonymous_variant L323L 969G>A STAD-US 19 4357372 4357372 single base substitution G A synonymous_variant L340L 1020G>A STAD-US 19 4357372 4357372 single base substitution G A synonymous_variant L373L 1119G>A STAD-US 19 4357372 4357372 single base substitution G A synonymous_variant L405L 1215G>A STAD-US 19 4357406 4357406 single base substitution G A downstream_gene_variant STAD-US 19 4357406 4357406 single base substitution G A exon_variant STAD-US 19 4357406 4357406 single base substitution G A intron_variant STAD-US 19 4357406 4357406 single base substitution G A missense_variant A335T 1003G>A STAD-US 19 4357406 4357406 single base substitution G A missense_variant A352T 1054G>A STAD-US 19 4357406 4357406 single base substitution G A missense_variant A385T 1153G>A STAD-US 19 4357406 4357406 single base substitution G A missense_variant A417T 1249G>A STAD-US 19 4361603 4361603 single base substitution C T downstream_gene_variant STAD-US 19 4361738 4361738 single base substitution G A downstream_gene_variant STAD-US 19 4361746 4361746 single base substitution C T downstream_gene_variant STAD-US 19 4361778 4361778 single base substitution G A downstream_gene_variant STAD-US 19 4362734 4362734 single base substitution C A downstream_gene_variant STAD-US 19 4363832 4363832 single base substitution T C downstream_gene_variant STAD-US 19 4363850 4363850 single base substitution C T downstream_gene_variant THCA-SA 19 4357309 4357309 single base substitution A G downstream_gene_variant THCA-SA 19 4357309 4357309 single base substitution A G exon_variant THCA-SA 19 4357309 4357309 single base substitution A G intron_variant THCA-SA 19 4357309 4357309 single base substitution A G synonymous_variant P302P 906A>G THCA-SA 19 4357309 4357309 single base substitution A G synonymous_variant P352P 1056A>G THCA-SA 19 4357309 4357309 single base substitution A G synonymous_variant P384P 1152A>G UCEC-US 19 4352912 4352935 deletion of <=200bp GAGGAGGAGGAGTTGCTGATGGAA - exon_variant UCEC-US 19 4352912 4352935 deletion of <=200bp GAGGAGGAGGAGTTGCTGATGGAA - inframe_deletion EEEELLME180 UCEC-US 19 4352912 4352935 deletion of <=200bp GAGGAGGAGGAGTTGCTGATGGAA - inframe_deletion EEEELLME184 UCEC-US 19 4352912 4352935 deletion of <=200bp GAGGAGGAGGAGTTGCTGATGGAA - inframe_deletion EEEELLME216 UCEC-US 19 4352912 4352935 deletion of <=200bp GAGGAGGAGGAGTTGCTGATGGAA - upstream_gene_variant UCEC-US 19 4357325 4357325 single base substitution C T downstream_gene_variant UCEC-US 19 4357325 4357325 single base substitution C T exon_variant UCEC-US 19 4357325 4357325 single base substitution C T intron_variant UCEC-US 19 4357325 4357325 single base substitution C T missense_variant P308S 922C>T UCEC-US 19 4357325 4357325 single base substitution C T missense_variant P358S 1072C>T UCEC-US 19 4357325 4357325 single base substitution C T missense_variant P390S 1168C>T UCEC-US 19 4359952 4359952 single base substitution T C downstream_gene_variant UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C437R 1309T>C UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C454R 1360T>C UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C457R 1369T>C UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C487R 1459T>C UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C489R 1465T>C UCEC-US 19 4359952 4359952 single base substitution T C missense_variant C95R 283T>C UCEC-US 19 4359958 4359958 single base substitution G A downstream_gene_variant UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V439I 1315G>A UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V456I 1366G>A UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V459I 1375G>A UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V489I 1465G>A UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V491I 1471G>A UCEC-US 19 4359958 4359958 single base substitution G A missense_variant V97I 289G>A UCEC-US 19 4359979 4359979 single base substitution G A downstream_gene_variant UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V104I 310G>A UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V446I 1336G>A UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V463I 1387G>A UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V466I 1396G>A UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V496I 1486G>A UCEC-US 19 4359979 4359979 single base substitution G A missense_variant V498I 1492G>A UCEC-US 19 4361702 4361702 single base substitution C T downstream_gene_variant UCEC-US 19 4362632 4362632 single base substitution C T downstream_gene_variant UCEC-US 19 4362702 4362702 single base substitution C T downstream_gene_variant UCEC-US 19 4363446 4363446 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC84T COSM1612340 c.1132A>G p.N378D Substitution - Missense 19:4357388-4357388 + TCGA-EE-A20C-06 COSM3535122 c.988G>A p.E330K Substitution - Missense 19:4355165-4355165 + TCGA-A6-6781-01 COSM1393311 c.1019G>A p.R340Q Substitution - Missense 19:4357275-4357275 + CHC205T COSM3766360 c.1056A>G p.P352P Substitution - coding silent 19:4357312-4357312 + TCGA-66-2778-01 COSM712597 c.933C>G p.L311L Substitution - coding silent 19:4355110-4355110 + T578 COSM4703033 c.622C>T p.R208W Substitution - Missense 19:4352987-4352987 + HCT15 COSM4624006 c.1146C>A p.P382P Substitution - coding silent 19:4357402-4357402 + B74 COSM1745255 c.574_576delGAG p.E195delE Deletion - In frame 19:4352939-4352941 + HCC84 COSM1612340 c.1132A>G p.N378D Substitution - Missense 19:4357388-4357388 + PTC-28C COSM4131974 c.597A>G p.A199A Substitution - coding silent 19:4352962-4352962 + TCGA-24-2030-01 COSM116858 c.941T>G p.F314C Substitution - Missense 19:4355118-4355118 + TCGA-E9-A1R2-01 COSM1481156 c.788C>A p.A263D Substitution - Missense 19:4354362-4354362 + TCGA-CD-A4MI-01 COSM4078914 c.509C>T p.T170M Substitution - Missense 19:4345959-4345959 + H1155 COSM1195851 c.607G>A p.A203T Substitution - Missense 19:4352972-4352972 + 104066 COSM96035 c.1401C>T p.L467L Substitution - coding silent 19:4359987-4359987 + T2948 COSM4703031 c.312C>T p.G104G Substitution - coding silent 19:4345762-4345762 + LC_C4 COSM997572 c.1375G>A p.V459I Substitution - Missense 19:4359961-4359961 + TCGA-85-6560-01 COSM712598 c.574G>C p.E192Q Substitution - Missense 19:4352939-4352939 + TCGA-HU-A4G9-01 COSM4078921 c.906C>T p.D302D Substitution - coding silent 19:4355008-4355008 + SNU-175 COSM3288550 c.661C>T p.P221S Substitution - Missense 19:4353026-4353026 + TCGA-AP-A059-01 COSM997556 c.1072C>T p.P358S Substitution - Missense 19:4357328-4357328 + TCGA-D3-A1Q6-06 COSM3535121 c.897C>T p.G299G Substitution - coding silent 19:4354999-4354999 + 8057700 COSM3389100 c.987C>T p.I329I Substitution - coding silent 19:4355164-4355164 + TCGA-12-0618 COSM2153597 c.1120_1121delCA p.Q374fs*50 Deletion - Frameshift 19:4357376-4357377 + Pat_06_B COSM1745255 c.574_576delGAG p.E195delE Deletion - In frame 19:4352939-4352941 + tumor_4116738 COSM1161274 c.489C>A p.L163L Substitution - coding silent 19:4345939-4345939 + LIM2099 COSM4641131 c.531G>A p.E177E Substitution - coding silent 19:4345981-4345981 + sysucc-1397T COSM5474178 c.898C>A p.R300S Substitution - Missense 19:4355000-4355000 + Pat_06_B COSM5856023 c.295G>C p.G99R Substitution - Missense 19:4345745-4345745 + TCGA-BR-8081-01 COSM4078927 c.1153G>A p.A385T Substitution - Missense 19:4357409-4357409 + AML8 COSM166675 c.736C>T p.R246C Substitution - Missense 19:4354116-4354116 + TCGA-CD-8536-01 COSM4078925 c.1119G>A p.L373L Substitution - coding silent 19:4357375-4357375 + TCGA-GC-A3RC-01 COSM3797182 c.1254C>T p.F418F Substitution - coding silent 19:4359180-4359180 + 587336 COSM1215411 c.1093G>A p.A365T Substitution - Missense 19:4357349-4357349 + PTC-7C COSM4131976 c.1209A>G p.S403S Substitution - coding silent 19:4357558-4357558 + LIM1899 COSM4613066 c.891delG p.G299fs*10 Deletion - Frameshift 19:4354993-4354993 + TCGA-DK-A2I4-01 COSM3797177 c.498C>G p.H166Q Substitution - Missense 19:4345948-4345948 + TCGA-AZ-6598-01 COSM1393271 c.738C>T p.R246R Substitution - coding silent 19:4354118-4354118 + 587376 COSM1215412 c.1114C>T p.R372W Substitution - Missense 19:4357370-4357370 + TCGA-HT-7690-01 COSM1215411 c.1093G>A p.A365T Substitution - Missense 19:4357349-4357349 + SNU-C4 COSM4653149 c.813C>T p.N271N Substitution - coding silent 19:4354387-4354387 + TCGA-AB-2992-03 COSM166675 c.736C>T p.R246C Substitution - Missense 19:4354116-4354116 + 8050308 COSM3389100 c.987C>T p.I329I Substitution - coding silent 19:4355164-4355164 + ESCC_142 COSM5643744 c.951G>A p.R317R Substitution - coding silent 19:4355128-4355128 + I2L-P7-Tumor-Organoid COSM5365507 c.1208C>T p.S403L Substitution - Missense 19:4357557-4357557 + TCGA-AP-A0LM-01 COSM997572 c.1375G>A p.V459I Substitution - Missense 19:4359961-4359961 + TCGA-G9-6351-01 COSM3672931 c.944C>A p.P315H Substitution - Missense 19:4355121-4355121 + ORL-48 COSM4596995 c.739G>A p.D247N Substitution - Missense 19:4354119-4354119 + T21 COSM1393311 c.1019G>A p.R340Q Substitution - Missense 19:4357275-4357275 + BD124T COSM5493772 c.532-4G>A p.? Unknown 19:4352893-4352893 + TCGA-D1-A17M-01 COSM997573 c.1396G>A p.V466I Substitution - Missense 19:4359982-4359982 + sysucc-880T COSM4131974 c.597A>G p.A199A Substitution - coding silent 19:4352962-4352962 + TCGA-BR-8487-01 COSM4078923 c.1092C>T p.D364D Substitution - coding silent 19:4357348-4357348 + S00501 COSM997573 c.1396G>A p.V466I Substitution - Missense 19:4359982-4359982 + TCGA-EE-A2MM-06 COSM3535149 c.1311C>T p.T437T Substitution - coding silent 19:4359237-4359237 + DLD1 COSM4624006 c.1146C>A p.P382P Substitution - coding silent 19:4357402-4357402 + TCGA-B5-A11E-01 COSM997571 c.1369T>C p.C457R Substitution - Missense 19:4359955-4359955 + T407 COSM4703035 c.979G>A p.A327T Substitution - Missense 19:4355156-4355156 + CSCC-59-T COSM4557029 c.711G>C p.P237P Substitution - coding silent 19:4354091-4354091 + TCGA-B5-A11E-01 COSM997556 c.1072C>T p.P358S Substitution - Missense 19:4357328-4357328 + TCGA-BR-8589-01 COSM4078912 c.446A>C p.K149T Substitution - Missense 19:4345896-4345896 + TCGA-G2-A2EK-01 COSM1304692 c.1211C>G p.P404R Substitution - Missense 19:4357560-4357560 + TCGA-AD-6964-01 COSM1393312 c.1393G>A p.G465S Substitution - Missense 19:4359979-4359979 + T3724 COSM4703036 c.1392C>T p.C464C Substitution - coding silent 19:4359978-4359978 + TARGET-30-PARDCK COSM1286255 c.625A>G p.R209G Substitution - Missense 19:4352990-4352990 + TCGA-D1-A0ZO-01 COSM997551 c.550_573del24 p.L188_E195delLLMEEEEE Deletion - In frame 19:4352915-4352938 + ESO-0292 COSM1241444 c.500A>G p.Q167R Substitution - Missense 19:4345950-4345950 + TARGET-30-PAPZFW COSM1286256 c.955C>T p.R319W Substitution - Missense 19:4355132-4355132 + AOCS-142-3-5 COSM4127684 c.749+3C>G p.? Unknown 19:4354132-4354132 + S01297 COSM5667541 c.269C>T p.A90V Substitution - Missense 19:4343969-4343969 + 587224 COSM1215410 c.907G>A p.V303I Substitution - Missense 19:4355009-4355009 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.321664;Hs.321689 19p13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D196G c.587A>G 19 4352949 RCCC A G Missense p.R209G c.625A>G 19 4352987 NB A T Missense p.T120S c.358A>T 19 4345805 HNSC C A Missense p.A263D c.788C>A 19 4354359 BRCA C A Synonymous p.L163L c.489C>A 19 4345936 DLBCL C G Missense p.H166Q c.498C>G 19 4345945 BLCA C G Missense p.P404R c.1211C>G 19 4357557 BLCA C G Synonymous p.L311L c.933C>G 19 4355107 LUSC C T Missense p.R246C c.736C>T 19 4354113 AML C T Synonymous p.G299G c.897C>T 19 4354996 CM C T Synonymous p.L425L c.1275C>T 19 4359198 HNSC C T Synonymous p.T437T c.1311C>T 19 4359234 CM GAGGAGGAGGAGTTGCTGATGGAA - InFrameDeletion p.L188_E195delLLMEEEEE c.562_585delTTGCTGATGGAAGAGGAGGAGGAG 19 4352912 UCEC G A Missense p.D105N c.313G>A 19 4345760 BRCA G A Missense p.E330K c.988G>A 19 4355162 CM G A Missense p.V466I c.1396G>A 19 4359979 UCEC G C Missense p.E192Q c.574G>C 19 4352936 LUSC GG AA Missense p.R427K c.1280_1281delinsAA 19 4359203 CM T G Missense p.F314C c.941T>G 19 4355115 OV