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 46387392 46387392 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr19:46387392C>T c.1641G>A c.(1639-1641)ccG>ccA p.P547P BLCA 19 46387734 46387734 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr19:46387734C>T c.1299G>A c.(1297-1299)ctG>ctA p.L433L BLCA 19 46387755 46387755 + Silent SNP C C G TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr19:46387755C>G c.1278G>C c.(1276-1278)ctG>ctC p.L426L BLCA 19 46387808 46387808 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr19:46387808C>T c.1225G>A c.(1225-1227)Ggc>Agc p.G409S BLCA 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr19:46387865C>T c.1168G>A c.(1168-1170)Gag>Aag p.E390K BLCA 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr19:46387865C>T c.1168G>A c.(1168-1170)Gag>Aag p.E390K BLCA 19 46388156 46388157 + Frame_Shift_Ins INS - - CA TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 g.chr19:46388156_46388157insCA c.876_877insTG c.(874-879)gtggctfs p.A293fs BLCA 19 46388223 46388223 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr19:46388223G>A c.810C>T c.(808-810)ttC>ttT p.F270F BLCA 19 46388228 46388228 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr19:46388228C>T c.805G>A c.(805-807)Gag>Aag p.E269K BLCA 19 46388283 46388283 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr19:46388283G>A c.750C>T c.(748-750)caC>caT p.H250H BLCA 19 46388386 46388386 + Missense_Mutation SNP C C A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr19:46388386C>A c.647G>T c.(646-648)cGa>cTa p.R216L BLCA 19 46388427 46388427 + Missense_Mutation SNP C C G TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr19:46388427C>G c.606G>C c.(604-606)caG>caC p.Q202H BLCA 19 46388452 46388452 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr19:46388452G>C c.581C>G c.(580-582)tCc>tGc p.S194C BRCA 19 46388255 46388255 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr19:46388255C>T c.778G>A c.(778-780)Gat>Aat p.D260N CESC 19 46388059 46388059 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr19:46388059C>T c.974G>A c.(973-975)gGa>gAa p.G325E CESC 19 46388496 46388496 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr19:46388496C>G c.537G>C c.(535-537)ctG>ctC p.L179L CESC 19 46388968 46388968 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 g.chr19:46388968C>G c.65G>C c.(64-66)tGg>tCg p.W22S COAD 19 46388205 46388205 + Silent SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:46388205G>A c.828C>T c.(826-828)acC>acT p.T276T COADREAD 19 46388205 46388205 + Silent SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:46388205G>A c.828C>T c.(826-828)acC>acT p.T276T GBMLGG 19 46387378 46387378 + Missense_Mutation SNP C C A TCGA-DU-6394-01A-11D-1705-08 TCGA-DU-6394-10A-01D-1705-08 g.chr19:46387378C>A c.1655G>T c.(1654-1656)tGc>tTc p.C552F GBMLGG 19 46387584 46387584 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:46387584G>A c.1449C>T c.(1447-1449)gcC>gcT p.A483A HNSC 19 46387755 46387755 + Silent SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr19:46387755C>T c.1278G>A c.(1276-1278)ctG>ctA p.L426L HNSC 19 46387762 46387762 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:46387762G>A c.1271C>T c.(1270-1272)gCc>gTc p.A424V HNSC 19 46388200 46388200 + Missense_Mutation SNP T T C TCGA-HD-A6I0-01A-11D-A31L-08 TCGA-HD-A6I0-10A-01D-A31J-08 g.chr19:46388200T>C c.833A>G c.(832-834)tAc>tGc p.Y278C HNSC 19 46388435 46388436 + Frame_Shift_Del DEL TC TC - TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr19:46388435_46388436delTC c.597_598delGA c.(595-600)gagaagfs p.K200fs HNSC 19 46388533 46388533 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr19:46388533A>T c.500T>A c.(499-501)cTg>cAg p.L167Q HNSC 19 46388584 46388584 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 g.chr19:46388584G>A c.449C>T c.(448-450)gCg>gTg p.A150V HNSC 19 46388616 46388616 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chr19:46388616C>T c.417G>A c.(415-417)ggG>ggA p.G139G HNSC 19 46388991 46388991 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr19:46388991C>A c.42G>T c.(40-42)ctG>ctT p.L14L KIPAN 19 46387423 46387423 + Missense_Mutation SNP G G A TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr19:46387423G>A c.1610C>T c.(1609-1611)gCg>gTg p.A537V KIPAN 19 46387535 46387535 + Missense_Mutation SNP G G C TCGA-SX-A71W-01A-12D-A34Z-10 TCGA-SX-A71W-10A-01D-A34Z-10 g.chr19:46387535G>C c.1498C>G c.(1498-1500)Ccc>Gcc p.P500A KIPAN 19 46387877 46387878 + Frame_Shift_Ins INS - - G TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr19:46387877_46387878insG c.1155_1156insC c.(1153-1158)cccgagfs p.E386fs KIPAN 19 46388204 46388204 + Nonsense_Mutation SNP C C A TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr19:46388204C>A c.829G>T c.(829-831)Gaa>Taa p.E277* KIRC 19 46388204 46388204 + Nonsense_Mutation SNP C C A TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr19:46388204C>A c.829G>T c.(829-831)Gaa>Taa p.E277* KIRP 19 46387423 46387423 + Missense_Mutation SNP G G A TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr19:46387423G>A c.1610C>T c.(1609-1611)gCg>gTg p.A537V KIRP 19 46387535 46387535 + Missense_Mutation SNP G G C TCGA-SX-A71W-01A-12D-A34Z-10 TCGA-SX-A71W-10A-01D-A34Z-10 g.chr19:46387535G>C c.1498C>G c.(1498-1500)Ccc>Gcc p.P500A KIRP 19 46387877 46387878 + Frame_Shift_Ins INS - - G TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr19:46387877_46387878insG c.1155_1156insC c.(1153-1158)cccgagfs p.E386fs LGG 19 46387378 46387378 + Missense_Mutation SNP C C A TCGA-DU-6394-01A-11D-1705-08 TCGA-DU-6394-10A-01D-1705-08 g.chr19:46387378C>A c.1655G>T c.(1654-1656)tGc>tTc p.C552F LGG 19 46387584 46387584 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:46387584G>A c.1449C>T c.(1447-1449)gcC>gcT p.A483A LIHC 19 46387532 46387532 + Frame_Shift_Del DEL G G - TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr19:46387532delG c.1501delC c.(1501-1503)ctgfs p.L501fs LIHC 19 46388496 46388496 + Silent SNP C C A TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr19:46388496C>A c.537G>T c.(535-537)ctG>ctT p.L179L LUAD 19 46387494 46387494 + Silent SNP G G A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr19:46387494G>A c.1539C>T c.(1537-1539)acC>acT p.T513T LUAD 19 46387917 46387917 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr19:46387917C>T c.1116G>A c.(1114-1116)cgG>cgA p.R372R LUAD 19 46388940 46388940 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr19:46388940G>T c.93C>A c.(91-93)gcC>gcA p.A31A LUSC 19 46388122 46388122 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr19:46388122G>A c.911C>T c.(910-912)cCg>cTg p.P304L LUSC 19 46388288 46388288 + Missense_Mutation SNP C C A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr19:46388288C>A c.745G>T c.(745-747)Gat>Tat p.D249Y PAAD 19 46389025 46389025 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:46389025G>T c.8C>A c.(7-9)tCt>tAt p.S3Y PRAD 19 46388640 46388640 + Silent SNP A A G TCGA-HC-7231-01A-11D-2114-08 TCGA-HC-7231-10A-01D-2115-08 g.chr19:46388640A>G c.393T>C c.(391-393)acT>acC p.T131T SKCM 19 46387448 46387448 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr19:46387448G>A c.1585C>T c.(1585-1587)Ccc>Tcc p.P529S SKCM 19 46387736 46387736 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr19:46387736G>A c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L SKCM 19 46387737 46387737 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr19:46387737G>A c.1296C>T c.(1294-1296)gcC>gcT p.A432A SKCM 19 46387758 46387758 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:46387758G>A c.1275C>T c.(1273-1275)gcC>gcT p.A425A SKCM 19 46387795 46387795 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr19:46387795G>A c.1238C>T c.(1237-1239)tCc>tTc p.S413F SKCM 19 46387882 46387882 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:46387882G>A c.1151C>T c.(1150-1152)tCc>tTc p.S384F SKCM 19 46387947 46387947 + Silent SNP G G T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr19:46387947G>T c.1086C>A c.(1084-1086)ctC>ctA p.L362L SKCM 19 46388219 46388219 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr19:46388219G>C c.814C>G c.(814-816)Ctg>Gtg p.L272V SKCM 19 46388613 46388613 + Silent SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr19:46388613C>A c.420G>T c.(418-420)ctG>ctT p.L140L SKCM 19 46388662 46388662 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr19:46388662G>A c.371C>T c.(370-372)cCc>cTc p.P124L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 46387392 46387392 single base substitution C T synonymous_variant P547P 1641G>A BLCA-US 19 46387808 46387808 single base substitution C T missense_variant G409S 1225G>A BLCA-US 19 46387865 46387865 single base substitution C T missense_variant E390K 1168G>A BLCA-US 19 46388156 46388156 insertion of <=200bp - CA frameshift_variant A293V? BLCA-US 19 46388452 46388452 single base substitution G C missense_variant S194C 581C>G BLCA-US 19 46393930 46393930 single base substitution C G upstream_gene_variant BLCA-US 19 46393972 46393972 single base substitution G A upstream_gene_variant BRCA-EU 19 46381883 46381884 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 19 46382606 46382606 single base substitution T A downstream_gene_variant BRCA-EU 19 46383568 46383568 single base substitution T A downstream_gene_variant BRCA-EU 19 46384028 46384028 single base substitution T C downstream_gene_variant BRCA-EU 19 46385180 46385180 single base substitution A G downstream_gene_variant BRCA-EU 19 46386187 46386187 single base substitution C A downstream_gene_variant BRCA-EU 19 46386203 46386203 single base substitution A C downstream_gene_variant BRCA-EU 19 46386347 46386347 single base substitution C A downstream_gene_variant BRCA-EU 19 46388503 46388503 single base substitution C A missense_variant R177L 530G>T BRCA-EU 19 46388511 46388511 single base substitution C T synonymous_variant L174L 522G>A BRCA-EU 19 46388581 46388581 single base substitution C T missense_variant R151Q 452G>A BRCA-EU 19 46389638 46389638 single base substitution C G upstream_gene_variant BRCA-EU 19 46390305 46390305 single base substitution A C upstream_gene_variant BRCA-EU 19 46390944 46390944 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 46392732 46392732 single base substitution G A upstream_gene_variant BRCA-EU 19 46392939 46392939 single base substitution G A upstream_gene_variant BRCA-EU 19 46392959 46392959 single base substitution C T upstream_gene_variant BRCA-EU 19 46393040 46393040 single base substitution C A upstream_gene_variant BRCA-EU 19 46393085 46393085 single base substitution G C upstream_gene_variant BRCA-EU 19 46393247 46393247 single base substitution C T upstream_gene_variant BRCA-EU 19 46393674 46393674 single base substitution G T upstream_gene_variant BRCA-EU 19 46393972 46393972 insertion of <=200bp - G upstream_gene_variant BRCA-FR 19 46383171 46383171 single base substitution C G downstream_gene_variant BRCA-FR 19 46388059 46388059 single base substitution C T missense_variant G325E 974G>A BRCA-FR 19 46393674 46393674 single base substitution G T upstream_gene_variant BRCA-UK 19 46387110 46387110 single base substitution C G 3_prime_UTR_variant BRCA-US 19 46388255 46388255 single base substitution C T missense_variant D260N 778G>A BRCA-US 19 46393934 46393934 single base substitution G C upstream_gene_variant BTCA-JP 19 46387213 46387213 single base substitution A T 3_prime_UTR_variant BTCA-JP 19 46394139 46394139 single base substitution T G upstream_gene_variant CESC-US 19 46388059 46388059 single base substitution C T missense_variant G325E 974G>A CESC-US 19 46388496 46388496 single base substitution C G synonymous_variant L179L 537G>C CESC-US 19 46388968 46388968 single base substitution C G missense_variant W22S 65G>C CLLE-ES 19 46383496 46383496 single base substitution C A downstream_gene_variant CLLE-ES 19 46393905 46393905 single base substitution C T upstream_gene_variant COAD-US 19 46387960 46387960 single base substitution G A missense_variant A358V 1073C>T COAD-US 19 46388205 46388205 single base substitution G A synonymous_variant T276T 828C>T COAD-US 19 46388592 46388592 single base substitution A T synonymous_variant A147A 441T>A COAD-US 19 46393942 46393942 deletion of <=200bp G - upstream_gene_variant COAD-US 19 46393972 46393972 deletion of <=200bp G - upstream_gene_variant COAD-US 19 46394187 46394187 single base substitution C T upstream_gene_variant COAD-US 19 46394204 46394204 single base substitution C T upstream_gene_variant COAD-US 19 46394205 46394205 single base substitution G A upstream_gene_variant COAD-US 19 46394339 46394339 single base substitution G A upstream_gene_variant COCA-CN 19 46387233 46387233 single base substitution G A 3_prime_UTR_variant COCA-CN 19 46387709 46387709 single base substitution C T missense_variant G442R 1324G>A COCA-CN 19 46393943 46393943 single base substitution G T upstream_gene_variant EOPC-DE 19 46383634 46383634 single base substitution C G downstream_gene_variant ESAD-UK 19 46384156 46384156 single base substitution G A downstream_gene_variant ESAD-UK 19 46384287 46384287 single base substitution C G downstream_gene_variant ESAD-UK 19 46390126 46390126 single base substitution A G upstream_gene_variant ESAD-UK 19 46390253 46390253 single base substitution G C upstream_gene_variant ESAD-UK 19 46391595 46391595 single base substitution G A upstream_gene_variant ESAD-UK 19 46392164 46392164 single base substitution A T upstream_gene_variant ESAD-UK 19 46392182 46392182 single base substitution C A upstream_gene_variant ESAD-UK 19 46392272 46392272 single base substitution G A upstream_gene_variant ESAD-UK 19 46393899 46393899 single base substitution G T upstream_gene_variant ESAD-UK 19 46393972 46393972 deletion of <=200bp G - upstream_gene_variant ESCA-CN 19 46387328 46387328 single base substitution C T missense_variant A569T 1705G>A ESCA-CN 19 46388379 46388379 single base substitution C G synonymous_variant R218R 654G>C ESCA-CN 19 46389326 46389326 single base substitution C T 5_prime_UTR_variant ESCA-CN 19 46393597 46393597 single base substitution C T upstream_gene_variant GBM-US 19 46393971 46393971 single base substitution T G upstream_gene_variant KIRC-US 19 46388204 46388204 single base substitution C A stop_gained E277* 829G>T KIRP-US 19 46387423 46387423 single base substitution G A missense_variant A537V 1610C>T KIRP-US 19 46393972 46393972 deletion of <=200bp G - upstream_gene_variant KIRP-US 19 46394285 46394285 deletion of <=200bp G - upstream_gene_variant LAML-KR 19 46382355 46382355 single base substitution A G downstream_gene_variant LAML-KR 19 46382358 46382358 single base substitution C T downstream_gene_variant LGG-US 19 46387378 46387378 single base substitution C A missense_variant C552F 1655G>T LICA-FR 19 46393223 46393223 single base substitution G A upstream_gene_variant LIHC-US 19 46393962 46393962 single base substitution G A upstream_gene_variant LINC-JP 19 46386366 46386366 single base substitution G A downstream_gene_variant LINC-JP 19 46387268 46387268 single base substitution C A 3_prime_UTR_variant LINC-JP 19 46387269 46387269 single base substitution A C 3_prime_UTR_variant LINC-JP 19 46389528 46389528 single base substitution G C upstream_gene_variant LINC-JP 19 46393167 46393167 deletion of <=200bp A - upstream_gene_variant LIRI-JP 19 46382849 46382849 single base substitution C T downstream_gene_variant LIRI-JP 19 46384106 46384106 single base substitution T A downstream_gene_variant LIRI-JP 19 46384532 46384532 insertion of <=200bp - AATC downstream_gene_variant LIRI-JP 19 46386224 46386224 single base substitution T A downstream_gene_variant LIRI-JP 19 46390165 46390166 deletion of <=200bp GA - upstream_gene_variant LIRI-JP 19 46392458 46392458 single base substitution T C upstream_gene_variant LUSC-KR 19 46382355 46382355 single base substitution A G downstream_gene_variant LUSC-KR 19 46382358 46382358 single base substitution C T downstream_gene_variant LUSC-KR 19 46383939 46383939 single base substitution G A downstream_gene_variant LUSC-KR 19 46384089 46384089 single base substitution G T downstream_gene_variant LUSC-KR 19 46384261 46384261 single base substitution G A downstream_gene_variant LUSC-KR 19 46390080 46390080 single base substitution G A upstream_gene_variant LUSC-KR 19 46390184 46390184 single base substitution C T upstream_gene_variant LUSC-US 19 46388122 46388122 single base substitution G A missense_variant P304L 911C>T LUSC-US 19 46388288 46388288 single base substitution C A missense_variant D249Y 745G>T MALY-DE 19 46387548 46387548 single base substitution C T synonymous_variant A495A 1485G>A MELA-AU 19 46382253 46382253 single base substitution C T downstream_gene_variant MELA-AU 19 46382949 46382949 single base substitution C T downstream_gene_variant MELA-AU 19 46383707 46383707 single base substitution G A downstream_gene_variant MELA-AU 19 46384809 46384809 single base substitution C T downstream_gene_variant MELA-AU 19 46384945 46384945 single base substitution C T downstream_gene_variant MELA-AU 19 46385024 46385024 single base substitution C T downstream_gene_variant MELA-AU 19 46385292 46385292 single base substitution G A downstream_gene_variant MELA-AU 19 46385383 46385383 single base substitution C T downstream_gene_variant MELA-AU 19 46385523 46385523 single base substitution G A downstream_gene_variant MELA-AU 19 46385924 46385924 single base substitution G A downstream_gene_variant MELA-AU 19 46386303 46386304 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 46387045 46387045 single base substitution G A 3_prime_UTR_variant MELA-AU 19 46387280 46387280 single base substitution A G stop_lost *585Q 1753T>C MELA-AU 19 46387597 46387597 single base substitution G A missense_variant P479L 1436C>T MELA-AU 19 46387790 46387790 single base substitution C T missense_variant E415K 1243G>A MELA-AU 19 46388312 46388312 single base substitution G A missense_variant P241S 721C>T MELA-AU 19 46389747 46389747 single base substitution T C upstream_gene_variant MELA-AU 19 46389768 46389768 single base substitution G A upstream_gene_variant MELA-AU 19 46389895 46389895 single base substitution C A upstream_gene_variant MELA-AU 19 46390106 46390106 single base substitution C T upstream_gene_variant MELA-AU 19 46390154 46390154 single base substitution C T upstream_gene_variant MELA-AU 19 46391887 46391887 single base substitution A T upstream_gene_variant MELA-AU 19 46392428 46392428 single base substitution G A upstream_gene_variant MELA-AU 19 46392638 46392638 single base substitution G A upstream_gene_variant MELA-AU 19 46392740 46392740 single base substitution G A upstream_gene_variant MELA-AU 19 46392825 46392825 single base substitution G A upstream_gene_variant MELA-AU 19 46393026 46393026 single base substitution G A upstream_gene_variant MELA-AU 19 46393869 46393869 single base substitution A G upstream_gene_variant MELA-AU 19 46393899 46393899 single base substitution G A upstream_gene_variant MELA-AU 19 46393962 46393962 single base substitution G A upstream_gene_variant ORCA-IN 19 46387715 46387715 single base substitution G T missense_variant P440T 1318C>A ORCA-IN 19 46387829 46387829 single base substitution G T missense_variant Q402K 1204C>A ORCA-IN 19 46392895 46392895 single base substitution G A upstream_gene_variant OV-AU 19 46387041 46387041 single base substitution G C 3_prime_UTR_variant OV-AU 19 46387220 46387220 single base substitution C G 3_prime_UTR_variant OV-AU 19 46388503 46388503 single base substitution C T missense_variant R177Q 530G>A OV-AU 19 46390352 46390352 single base substitution G A upstream_gene_variant OV-AU 19 46390436 46390436 single base substitution C G upstream_gene_variant OV-AU 19 46391329 46391329 single base substitution C G upstream_gene_variant PACA-AU 19 46390223 46390223 single base substitution A C upstream_gene_variant PACA-AU 19 46393701 46393701 deletion of <=200bp G - upstream_gene_variant PACA-AU 19 46394145 46394145 single base substitution T G upstream_gene_variant PACA-CA 19 46382470 46382470 single base substitution C G downstream_gene_variant PACA-CA 19 46387213 46387213 single base substitution A T 3_prime_UTR_variant PACA-CA 19 46388359 46388359 single base substitution C T missense_variant R225H 674G>A PACA-CA 19 46388626 46388626 single base substitution A G missense_variant L136P 407T>C PAEN-AU 19 46387252 46387252 single base substitution G A 3_prime_UTR_variant PAEN-IT 19 46383840 46383840 single base substitution G C downstream_gene_variant PRAD-CA 19 46387438 46387438 single base substitution C A missense_variant R532L 1595G>T PRAD-US 19 46388640 46388640 single base substitution A G synonymous_variant T131T 393T>C SKCA-BR 19 46382334 46382334 insertion of <=200bp - GGTGTGT downstream_gene_variant SKCA-BR 19 46383885 46383885 single base substitution T C downstream_gene_variant SKCA-BR 19 46385863 46385863 single base substitution G A downstream_gene_variant SKCA-BR 19 46386919 46386919 single base substitution T G 3_prime_UTR_variant SKCA-BR 19 46388476 46388476 single base substitution C T missense_variant S186N 557G>A SKCA-BR 19 46390082 46390082 single base substitution G A upstream_gene_variant SKCA-BR 19 46390106 46390106 single base substitution C T upstream_gene_variant SKCA-BR 19 46390154 46390154 single base substitution C T upstream_gene_variant SKCA-BR 19 46390184 46390184 single base substitution C T upstream_gene_variant SKCA-BR 19 46394295 46394295 single base substitution G A upstream_gene_variant SKCM-US 19 46387448 46387448 single base substitution G A missense_variant P529S 1585C>T SKCM-US 19 46387758 46387758 single base substitution G A synonymous_variant A425A 1275C>T SKCM-US 19 46387783 46387783 single base substitution G A missense_variant P417L 1250C>T SKCM-US 19 46387795 46387795 single base substitution G A missense_variant S413F 1238C>T SKCM-US 19 46387882 46387882 single base substitution G A missense_variant S384F 1151C>T SKCM-US 19 46387947 46387947 single base substitution G T synonymous_variant L362L 1086C>A SKCM-US 19 46388219 46388219 single base substitution G C missense_variant L272V 814C>G SKCM-US 19 46388613 46388613 single base substitution C A synonymous_variant L140L 420G>T SKCM-US 19 46388662 46388662 single base substitution G A missense_variant P124L 371C>T SKCM-US 19 46393885 46393885 single base substitution G A upstream_gene_variant SKCM-US 19 46393886 46393886 single base substitution G A upstream_gene_variant SKCM-US 19 46393919 46393919 single base substitution G A upstream_gene_variant SKCM-US 19 46393958 46393958 single base substitution G A upstream_gene_variant SKCM-US 19 46394007 46394007 single base substitution G A upstream_gene_variant STAD-US 19 46387358 46387358 single base substitution C T missense_variant V559M 1675G>A STAD-US 19 46387909 46387909 single base substitution G A missense_variant A375V 1124C>T STAD-US 19 46388028 46388028 single base substitution G T synonymous_variant T335T 1005C>A STAD-US 19 46388666 46388666 deletion of <=200bp G - frameshift_variant L123 STAD-US 19 46393881 46393881 single base substitution T C upstream_gene_variant STAD-US 19 46393902 46393902 single base substitution G A upstream_gene_variant THCA-SA 19 46393724 46393724 single base substitution C G upstream_gene_variant UCEC-US 19 46387941 46387941 single base substitution G A synonymous_variant G364G 1092C>T UCEC-US 19 46388052 46388052 single base substitution C T stop_gained W327* 981G>A UCEC-US 19 46388270 46388270 single base substitution G A stop_gained R255* 763C>T UCEC-US 19 46388373 46388373 single base substitution C T synonymous_variant E220E 660G>A UCEC-US 19 46388582 46388582 single base substitution G A stop_gained R151* 451C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DK-A3IT-01 COSM1304794 c.1168G>A p.E390K Substitution - Missense 19:45884607-45884607 - T3340 COSM4693012 c.1353C>T p.G451G Substitution - coding silent 19:45884422-45884422 - Pat_01_A COSM5856198 c.125C>A p.A42E Substitution - Missense 19:45885650-45885650 - TCGA-BG-A0W2-01 COSM998345 c.1092C>T p.G364G Substitution - coding silent 19:45884683-45884683 - TCGA-AY-6197-01 COSM1394706 c.828C>T p.T276T Substitution - coding silent 19:45884947-45884947 - SW48 COSM4656307 c.101G>A p.R34H Substitution - Missense 19:45885674-45885674 - ZZUFHECRKL-G060T COSM439814 c.654G>C p.R218R Substitution - coding silent 19:45885121-45885121 - 19 COSM5748086 c.491delC p.P164fs*16 Deletion - Frameshift 19:45885284-45885284 - 364 COSM439814 c.654G>C p.R218R Substitution - coding silent 19:45885121-45885121 - HCT116 COSM3104830 c.1501delC p.L501fs*10 Deletion - Frameshift 19:45884274-45884274 - KM12 COSM4612782 c.367delC p.L123fs*39 Deletion - Frameshift 19:45885408-45885408 - LS180 COSM3104850 c.705G>A p.A235A Substitution - coding silent 19:45885070-45885070 - TCGA-60-2720-01 COSM712284 c.745G>T p.D249Y Substitution - Missense 19:45885030-45885030 - TCGA-CG-5733-01 COSM4079484 c.1675G>A p.V559M Substitution - Missense 19:45884100-45884100 - SJDOSTEOS009 COSM5760080 c.1146G>C p.K382N Substitution - Missense 19:45884629-45884629 - TCGA-EE-A184-06 COSM3536027 c.420G>T p.L140L Substitution - coding silent 19:45885355-45885355 - TCGA-GF-A6C9-06 COSM4902434 c.371C>T p.P124L Substitution - Missense 19:45885404-45885404 - TCGA-B8-5163-01 COSM474936 c.829G>T p.E277* Substitution - Nonsense 19:45884946-45884946 - SC_9097 COSM5555472 c.1227C>T p.G409G Substitution - coding silent 19:45884548-45884548 - 2492710 COSM5718051 c.1627G>A p.E543K Substitution - Missense 19:45884148-45884148 - AOCS-091-1-3 COSM4127724 c.530G>A p.R177Q Substitution - Missense 19:45885245-45885245 - LS411 COSM4646611 c.1079C>T p.A360V Substitution - Missense 19:45884696-45884696 - Pat_28_B COSM5856197 c.1412G>A p.R471H Substitution - Missense 19:45884363-45884363 - sysucc-1370T COSM5471060 c.1324G>A p.G442R Substitution - Missense 19:45884451-45884451 - TCGA-BQ-5876-01 COSM3990127 c.1610C>T p.A537V Substitution - Missense 19:45884165-45884165 - TCGA-AP-A056-01 COSM998348 c.660G>A p.E220E Substitution - coding silent 19:45885115-45885115 - 2492702 COSM5599721 c.444G>A p.E148E Substitution - coding silent 19:45885331-45885331 - RKO COSM3104835 c.1191C>A p.T397T Substitution - coding silent 19:45884584-45884584 - CSCC-49-T COSM4515792 c.1314_1315GG>AA p.D439N Substitution - Missense 19:45884460-45884461 - TCGA-G4-6628-01 COSM3692889 c.1073C>T p.A358V Substitution - Missense 19:45884702-45884702 - TCGA-EE-A2GD-06 COSM3536026 c.814C>G p.L272V Substitution - Missense 19:45884961-45884961 - HCT-15 COSM1681142 c.790C>T p.R264C Substitution - Missense 19:45884985-45884985 - TCGA-HU-A4GQ-01 COSM4079485 c.1124C>T p.A375V Substitution - Missense 19:45884651-45884651 - 1517_CLM COSM5755414 c.15G>T p.Q5H Substitution - Missense 19:45885760-45885760 - DN14042 COSM4847190 c.974G>A p.G325E Substitution - Missense 19:45884801-45884801 - tumor_4107137 COSM3357160 c.1485G>A p.A495A Substitution - coding silent 19:45884290-45884290 - TCGA-DK-A3IU-01 COSM3797272 c.1641G>A p.P547P Substitution - coding silent 19:45884134-45884134 - HCT15 COSM4632794 c.1488C>T p.T496T Substitution - coding silent 19:45884287-45884287 - 2492700 COSM5599721 c.444G>A p.E148E Substitution - coding silent 19:45885331-45885331 - TCGA-BH-A0DZ-01 COSM439813 c.778G>A p.D260N Substitution - Missense 19:45884997-45884997 - T3064 COSM4693014 c.773C>T p.A258V Substitution - Missense 19:45885002-45885002 - TCGA-G4-6298-01 COSM3692890 c.441T>A p.A147A Substitution - coding silent 19:45885334-45885334 - TARGET-30-PATDXC COSM1285572 c.1119C>A p.N373K Substitution - Missense 19:45884656-45884656 - DLD1 COSM3104829 c.1644C>T p.S548S Substitution - coding silent 19:45884131-45884131 - HCT15 COSM1681142 c.790C>T p.R264C Substitution - Missense 19:45884985-45884985 - LUAD-B00523 COSM331861 c.528C>T p.S176S Substitution - coding silent 19:45885247-45885247 - SNUH_G10_S1 COSM439814 c.654G>C p.R218R Substitution - coding silent 19:45885121-45885121 - TCGA-GC-A3WC-01 COSM3797273 c.1225G>A p.G409S Substitution - Missense 19:45884550-45884550 - 2492730 COSM5728545 c.1332G>A p.G444G Substitution - coding silent 19:45884443-45884443 - MedB-1 COSM5621056 c.1150T>A p.S384T Substitution - Missense 19:45884625-45884625 - ZZUFHECRKL-G026T COSM5435671 c.1705G>A p.A569T Substitution - Missense 19:45884070-45884070 - TCGA-AP-A059-01 COSM998346 c.981G>A p.W327* Substitution - Nonsense 19:45884794-45884794 - Au2 COSM5599721 c.444G>A p.E148E Substitution - coding silent 19:45885331-45885331 - TCGA-DU-6394-01 COSM3971101 c.1655G>T p.C552F Substitution - Missense 19:45884120-45884120 - TCGA-EE-A2MT-06 COSM3536024 c.1238C>T p.S413F Substitution - Missense 19:45884537-45884537 - C058 COSM4983023 c.1545C>T p.F515F Substitution - coding silent 19:45884230-45884230 - LUAD-RT-S01702 COSM379185 c.962G>A p.R321Q Substitution - Missense 19:45884813-45884813 - TCGA-18-3409-01 COSM712285 c.911C>T p.P304L Substitution - Missense 19:45884864-45884864 - LS174T COSM3104850 c.705G>A p.A235A Substitution - coding silent 19:45885070-45885070 - HCT15 COSM4632795 c.1112C>T p.S371F Substitution - Missense 19:45884663-45884663 - OSCC-GB_00880111 COSM4887979 c.1318C>A p.P440T Substitution - Missense 19:45884457-45884457 - 2492701 COSM5599721 c.444G>A p.E148E Substitution - coding silent 19:45885331-45885331 - TCGA-JW-A5VL-01 COSM4847190 c.974G>A p.G325E Substitution - Missense 19:45884801-45884801 - TCGA-FW-A3R5-06 COSM3892897 c.1275C>T p.A425A Substitution - coding silent 19:45884500-45884500 - 2492709 COSM5718051 c.1627G>A p.E543K Substitution - Missense 19:45884148-45884148 - TCGA-D1-A103-01 COSM998349 c.451C>T p.R151* Substitution - Nonsense 19:45885324-45885324 - DLD1 COSM1681142 c.790C>T p.R264C Substitution - Missense 19:45884985-45884985 - PCSI_0118_Pa_P COSM3378777 c.407T>C p.L136P Substitution - Missense 19:45885368-45885368 - TCGA-EE-A3J5-06 COSM3536025 c.1086C>A p.L362L Substitution - coding silent 19:45884689-45884689 - 70 COSM5744410 c.811G>A p.E271K Substitution - Missense 19:45884964-45884964 - TCGA-FU-A23K-01 COSM459928 c.65G>C p.W22S Substitution - Missense 19:45885710-45885710 - TCGA-EE-A3JB-06 COSM4898253 c.1585C>T p.P529S Substitution - Missense 19:45884190-45884190 - TCGA-FW-A3R5-06 COSM3892898 c.1151C>T p.S384F Substitution - Missense 19:45884624-45884624 - TCGA-BS-A0UA-01 COSM998347 c.763C>T p.R255* Substitution - Nonsense 19:45885012-45885012 - TCGA-G2-A2EJ-01 COSM1304795 c.581C>G p.S194C Substitution - Missense 19:45885194-45885194 - CSCC-45-T COSM4463372 c.1289C>T p.A430V Substitution - Missense 19:45884486-45884486 - 7996 COSM5614686 c.772G>T p.A258S Substitution - Missense 19:45885003-45885003 - 1517_PT COSM5755414 c.15G>T p.Q5H Substitution - Missense 19:45885760-45885760 - HCT8 COSM1681142 c.790C>T p.R264C Substitution - Missense 19:45884985-45884985 - D-03 COSM4766392 c.1418G>A p.G473D Substitution - Missense 19:45884357-45884357 - 3N50-VS-3T50 COSM4983023 c.1545C>T p.F515F Substitution - coding silent 19:45884230-45884230 - 2492708 COSM5718051 c.1627G>A p.E543K Substitution - Missense 19:45884148-45884148 - 2492703 COSM5599721 c.444G>A p.E148E Substitution - coding silent 19:45885331-45885331 - T2197 COSM4693013 c.876G>T p.V292V Substitution - coding silent 19:45884899-45884899 - PGBM15PT COSM1579926 c.1462G>A p.G488R Substitution - Missense 19:45884313-45884313 - HCT15 COSM3104829 c.1644C>T p.S548S Substitution - coding silent 19:45884131-45884131 - CHEWS034 COSM4581228 c.771C>T p.F257F Substitution - coding silent 19:45885004-45885004 - OSCC-GB_01080111 COSM4884488 c.1204C>A p.Q402K Substitution - Missense 19:45884571-45884571 - TCGA-FP-8099-01 COSM4079486 c.1005C>A p.T335T Substitution - coding silent 19:45884770-45884770 - TCGA-EB-A41A-01 COSM3536023 c.1250C>T p.P417L Substitution - Missense 19:45884525-45884525 - TCGA-C5-A1MH-01 COSM4820863 c.537G>C p.L179L Substitution - coding silent 19:45885238-45885238 - TCGA-HC-7231-01 COSM1471009 c.393T>C p.T131T Substitution - coding silent 19:45885382-45885382 - 35M COSM5581385 c.1729A>G p.K577E Substitution - Missense 19:45884046-45884046 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515477 19q13.32 2413184|CGAP|BC038222|A/G|coding|Leu510Leu|1873|Validated; 2413184|CGAP|BC039002|A/G|coding|Leu510Leu|1890|Validated; 2413184|CGAP|BC078181|A/G|coding|Leu510Leu|1598|Validated; 2413185|CGAP|BC038222|C/T|coding|Phe563Phe|2032|Validated; 2413185|CGAP|BC039002|C/T|coding|Phe563Phe|2049|Validated; 2413185|CGAP|BC078181|C/T|coding|Phe563Phe|1757|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.T131T c.393T>C 19 46388640 PRAD A T Missense p.L167Q c.500T>A 19 46388533 HNSC - CA Frameshift p.A293Gfs*104 c.875_876insTG 19 46388157 BLCA C A Missense p.A258S c.772G>T 19 46388261 NSCLC C A Missense p.C552F c.1655G>T 19 46387378 LGG C A Missense p.D249Y c.745G>T 19 46388288 LUSC C A Nonsense p.E277* c.829G>T 19 46388204 RCCC C A Synonymous p.L140L c.420G>T 19 46388613 CM C T Missense p.G254R c.760G>A 19 46388273 CM C T Missense p.V559M c.1675G>A 19 46387358 STAD C T Synonymous p.L426L c.1278G>A 19 46387755 HNSC C T Synonymous p.P547P c.1641G>A 19 46387392 BLCA G A Missense p.A150V c.449C>T 19 46388584 HNSC G A Missense p.P529S c.1585C>T 19 46387448 CM G A Missense p.R142C c.424C>T 19 46388609 CM G A Missense p.S413F c.1238C>T 19 46387795 CM G A Nonsense p.R255* c.763C>T 19 46388270 UCEC G C Missense p.L272V c.814C>G 19 46388219 CM G C Missense p.S194C c.581C>G 19 46388452 BLCA GG AA Synonymous p.(=) c.1296_1297delinsTT 19 46387736 CM G T Missense p.N373K c.1119C>A 19 46387914 NB G T Synonymous p.L362L c.1086C>A 19 46387947 CM TC - Frameshift p.K200Afs*119 c.597_598delGA 19 46388435 HNSC