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 8495718 8495718 + Silent SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr19:8495718C>T c.549C>T c.(547-549)atC>atT p.I183I BLCA 19 8495727 8495727 + Silent SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr19:8495727C>T c.558C>T c.(556-558)ttC>ttT p.F186F BLCA 19 8503337 8503337 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr19:8503337G>A c.648G>A c.(646-648)ctG>ctA p.L216L CHOL 19 8486775 8486775 + Silent SNP C C T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr19:8486775C>T c.51C>T c.(49-51)tcC>tcT p.S17S COAD 19 8491498 8491499 + Missense_Mutation DNP GT GT AG TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr19:8491498_8491499GT>AG c.182_183GT>AG c.(181-183)gGT>gAG p.G61E COAD 19 8491523 8491523 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:8491523G>T c.207G>T c.(205-207)gaG>gaT p.E69D COADREAD 19 8491498 8491499 + Missense_Mutation DNP GT GT AG TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr19:8491498_8491499GT>AG c.182_183GT>AG c.(181-183)gGT>gAG p.G61E COADREAD 19 8491523 8491523 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:8491523G>T c.207G>T c.(205-207)gaG>gaT p.E69D ESCA 19 8491528 8491528 + Missense_Mutation SNP C C T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr19:8491528C>T c.212C>T c.(211-213)gCg>gTg p.A71V ESCA 19 8495623 8495623 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr19:8495623G>T c.454G>T c.(454-456)Gcc>Tcc p.A152S ESCA 19 8503352 8503352 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr19:8503352G>T c.663G>T c.(661-663)gcG>gcT p.A221A ESCA 19 8503364 8503364 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 g.chr19:8503364G>T c.675G>T c.(673-675)gaG>gaT p.E225D GBMLGG 19 8486897 8486897 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:8486897C>T c.173C>T c.(172-174)cCg>cTg p.P58L HNSC 19 8486776 8486776 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr19:8486776G>A c.52G>A c.(52-54)Ggc>Agc p.G18S HNSC 19 8491643 8491643 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr19:8491643C>T c.327C>T c.(325-327)tgC>tgT p.C109C HNSC 19 8495604 8495604 + Missense_Mutation SNP C C A TCGA-CV-A6JY-01A-11D-A31L-08 TCGA-CV-A6JY-10A-01D-A31J-08 g.chr19:8495604C>A c.435C>A c.(433-435)ttC>ttA p.F145L KIPAN 19 8486884 8486884 + Missense_Mutation SNP G G A TCGA-CJ-4890-01A-01D-1373-10 TCGA-CJ-4890-11A-01D-1373-10 g.chr19:8486884G>A c.160G>A c.(160-162)Gcc>Acc p.A54T KIPAN 19 8503277 8503277 + Silent SNP C C T TCGA-IZ-A6M9-01A-11D-A31X-10 TCGA-IZ-A6M9-10A-01D-A31X-10 g.chr19:8503277C>T c.588C>T c.(586-588)tcC>tcT p.S196S KIRC 19 8486884 8486884 + Missense_Mutation SNP G G A TCGA-CJ-4890-01A-01D-1373-10 TCGA-CJ-4890-11A-01D-1373-10 g.chr19:8486884G>A c.160G>A c.(160-162)Gcc>Acc p.A54T KIRP 19 8503277 8503277 + Silent SNP C C T TCGA-IZ-A6M9-01A-11D-A31X-10 TCGA-IZ-A6M9-10A-01D-A31X-10 g.chr19:8503277C>T c.588C>T c.(586-588)tcC>tcT p.S196S LGG 19 8486897 8486897 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:8486897C>T c.173C>T c.(172-174)cCg>cTg p.P58L LUAD 19 8491509 8491511 + In_Frame_Del DEL CGG CGG - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 g.chr19:8491509_8491511delCGG c.193_195delCGG c.(193-195)cggdel p.R65del LUAD 19 8495557 8495557 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr19:8495557G>T c.388G>T c.(388-390)Ggg>Tgg p.G130W LUSC 19 8491529 8491529 + Silent SNP G G T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr19:8491529G>T c.213G>T c.(211-213)gcG>gcT p.A71A LUSC 19 8491686 8491686 + Missense_Mutation SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr19:8491686G>A c.370G>A c.(370-372)Gag>Aag p.E124K LUSC 19 8503280 8503280 + Silent SNP C C T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr19:8503280C>T c.591C>T c.(589-591)ttC>ttT p.F197F OV 19 8491561 8491561 + Missense_Mutation SNP G G C TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr19:8491561G>C c.245G>C c.(244-246)tGc>tCc p.C82S OV 19 8491569 8491569 + Missense_Mutation SNP A A T TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 g.chr19:8491569A>T c.253A>T c.(253-255)Acg>Tcg p.T85S PAAD 19 8486755 8486755 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:8486755G>T c.31G>T c.(31-33)Ggc>Tgc p.G11C PAAD 19 8495681 8495681 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:8495681G>A c.512G>A c.(511-513)aGc>aAc p.S171N SARC 19 8495621 8495621 + Missense_Mutation SNP T T A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 g.chr19:8495621T>A c.452T>A c.(451-453)cTg>cAg p.L151Q SKCM 19 8486870 8486870 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr19:8486870C>T c.146C>T c.(145-147)tCc>tTc p.S49F SKCM 19 8486881 8486881 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr19:8486881C>T c.157C>T c.(157-159)Cgt>Tgt p.R53C SKCM 19 8486881 8486881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:8486881C>T c.157C>T c.(157-159)Cgt>Tgt p.R53C SKCM 19 8491502 8491502 + Silent SNP T T A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:8491502T>A c.186T>A c.(184-186)ccT>ccA p.P62P SKCM 19 8491579 8491579 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr19:8491579C>T c.263C>T c.(262-264)gCc>gTc p.A88V SKCM 19 8491631 8491631 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr19:8491631C>T c.315C>T c.(313-315)taC>taT p.Y105Y SKCM 19 8495677 8495677 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr19:8495677C>T c.508C>T c.(508-510)Cac>Tac p.H170Y SKCM 19 8495718 8495718 + Silent SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr19:8495718C>T c.549C>T c.(547-549)atC>atT p.I183I SKCM 19 8503361 8503361 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr19:8503361C>A c.672C>A c.(670-672)ccC>ccA p.P224P SKCM 19 8503369 8503369 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr19:8503369C>T c.680C>T c.(679-681)cCc>cTc p.P227L

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 8503337 8503337 single base substitution G A intron_variant BLCA-US 19 8503337 8503337 single base substitution G A synonymous_variant L146L 438G>A BLCA-US 19 8503337 8503337 single base substitution G A synonymous_variant L216L 648G>A BRCA-EU 19 8473374 8473374 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 8473786 8473786 single base substitution C T upstream_gene_variant BRCA-EU 19 8474515 8474515 single base substitution T C upstream_gene_variant BRCA-EU 19 8475339 8475339 single base substitution G A upstream_gene_variant BRCA-EU 19 8476015 8476015 single base substitution C T upstream_gene_variant BRCA-EU 19 8477755 8477755 single base substitution C T upstream_gene_variant BRCA-EU 19 8478049 8478049 single base substitution A T upstream_gene_variant BRCA-EU 19 8478904 8478904 single base substitution A G intron_variant BRCA-EU 19 8478904 8478904 single base substitution A G upstream_gene_variant BRCA-EU 19 8484499 8484499 single base substitution G T intron_variant BRCA-EU 19 8484499 8484499 single base substitution G T upstream_gene_variant BRCA-EU 19 8485233 8485233 single base substitution A C intron_variant BRCA-EU 19 8485233 8485233 single base substitution A C upstream_gene_variant BRCA-EU 19 8485717 8485717 single base substitution T C intron_variant BRCA-EU 19 8485717 8485717 single base substitution T C upstream_gene_variant BRCA-EU 19 8486013 8486013 single base substitution T G intron_variant BRCA-EU 19 8486013 8486013 single base substitution T G upstream_gene_variant BRCA-EU 19 8486669 8486669 single base substitution C T intron_variant BRCA-EU 19 8486669 8486669 single base substitution C T splice_region_variant BRCA-EU 19 8486669 8486669 single base substitution C T upstream_gene_variant BRCA-EU 19 8486821 8486821 single base substitution C A exon_variant BRCA-EU 19 8486821 8486821 single base substitution C A missense_variant P33T 97C>A BRCA-EU 19 8487334 8487334 single base substitution T C downstream_gene_variant BRCA-EU 19 8487334 8487334 single base substitution T C intron_variant BRCA-EU 19 8487908 8487908 deletion of <=200bp T - downstream_gene_variant BRCA-EU 19 8487908 8487908 deletion of <=200bp T - intron_variant BRCA-EU 19 8488437 8488437 single base substitution G A downstream_gene_variant BRCA-EU 19 8488437 8488437 single base substitution G A intron_variant BRCA-EU 19 8489898 8489898 single base substitution C G downstream_gene_variant BRCA-EU 19 8489898 8489898 single base substitution C G intron_variant BRCA-EU 19 8489908 8489908 single base substitution C T downstream_gene_variant BRCA-EU 19 8489908 8489908 single base substitution C T intron_variant BRCA-EU 19 8490020 8490020 single base substitution G A downstream_gene_variant BRCA-EU 19 8490020 8490020 single base substitution G A intron_variant BRCA-EU 19 8491682 8491682 single base substitution C G downstream_gene_variant BRCA-EU 19 8491682 8491682 single base substitution C G exon_variant BRCA-EU 19 8491682 8491682 single base substitution C G intron_variant BRCA-EU 19 8491682 8491682 single base substitution C G synonymous_variant L122L 366C>G BRCA-EU 19 8493438 8493438 single base substitution G A downstream_gene_variant BRCA-EU 19 8493438 8493438 single base substitution G A intron_variant BRCA-EU 19 8494339 8494339 insertion of <=200bp - A downstream_gene_variant BRCA-EU 19 8494339 8494339 insertion of <=200bp - A intron_variant BRCA-EU 19 8495701 8495701 single base substitution C G downstream_gene_variant BRCA-EU 19 8495701 8495701 single base substitution C G exon_variant BRCA-EU 19 8495701 8495701 single base substitution C G intron_variant BRCA-EU 19 8495701 8495701 single base substitution C G missense_variant L178V 532C>G BRCA-EU 19 8496180 8496180 single base substitution C G downstream_gene_variant BRCA-EU 19 8496180 8496180 single base substitution C G intron_variant BRCA-EU 19 8497608 8497608 single base substitution G C downstream_gene_variant BRCA-EU 19 8497608 8497608 single base substitution G C intron_variant BRCA-EU 19 8499511 8499511 single base substitution A G downstream_gene_variant BRCA-EU 19 8499511 8499511 single base substitution A G intron_variant BRCA-EU 19 8500452 8500452 single base substitution T C downstream_gene_variant BRCA-EU 19 8500452 8500452 single base substitution T C intron_variant BRCA-EU 19 8500917 8500917 insertion of <=200bp - T intron_variant BRCA-EU 19 8504332 8504332 single base substitution T G downstream_gene_variant BRCA-EU 19 8504435 8504435 single base substitution G A downstream_gene_variant BRCA-EU 19 8505114 8505126 deletion of <=200bp TTTTGAGATGGGG - downstream_gene_variant BRCA-EU 19 8505821 8505821 single base substitution C G downstream_gene_variant BRCA-EU 19 8505994 8505994 single base substitution C G downstream_gene_variant BRCA-EU 19 8506204 8506204 single base substitution T C downstream_gene_variant BRCA-EU 19 8506724 8506724 single base substitution C G downstream_gene_variant BRCA-EU 19 8507323 8507323 single base substitution A G downstream_gene_variant BRCA-FR 19 8473786 8473786 single base substitution C T upstream_gene_variant BRCA-FR 19 8477755 8477755 single base substitution C T upstream_gene_variant BRCA-FR 19 8477877 8477877 single base substitution A G upstream_gene_variant BRCA-FR 19 8485717 8485717 single base substitution T C intron_variant BRCA-FR 19 8485717 8485717 single base substitution T C upstream_gene_variant BRCA-FR 19 8486669 8486669 single base substitution C T intron_variant BRCA-FR 19 8486669 8486669 single base substitution C T splice_region_variant BRCA-FR 19 8486669 8486669 single base substitution C T upstream_gene_variant BRCA-FR 19 8489898 8489898 single base substitution C G downstream_gene_variant BRCA-FR 19 8489898 8489898 single base substitution C G intron_variant BRCA-FR 19 8489908 8489908 single base substitution C T downstream_gene_variant BRCA-FR 19 8489908 8489908 single base substitution C T intron_variant BRCA-FR 19 8490020 8490020 single base substitution G A downstream_gene_variant BRCA-FR 19 8490020 8490020 single base substitution G A intron_variant BRCA-FR 19 8495701 8495701 single base substitution C G downstream_gene_variant BRCA-FR 19 8495701 8495701 single base substitution C G exon_variant BRCA-FR 19 8495701 8495701 single base substitution C G intron_variant BRCA-FR 19 8495701 8495701 single base substitution C G missense_variant L178V 532C>G BRCA-FR 19 8496180 8496180 single base substitution C G downstream_gene_variant BRCA-FR 19 8496180 8496180 single base substitution C G intron_variant BRCA-FR 19 8504435 8504435 single base substitution G A downstream_gene_variant BRCA-FR 19 8506724 8506724 single base substitution C G downstream_gene_variant BRCA-UK 19 8474435 8474435 single base substitution C T upstream_gene_variant BRCA-UK 19 8490381 8490381 single base substitution C T downstream_gene_variant BRCA-UK 19 8490381 8490381 single base substitution C T intron_variant BRCA-UK 19 8504332 8504332 single base substitution T G downstream_gene_variant BTCA-JP 19 8495733 8495733 single base substitution C T downstream_gene_variant BTCA-JP 19 8495733 8495733 single base substitution C T exon_variant BTCA-JP 19 8495733 8495733 single base substitution C T intron_variant BTCA-JP 19 8495733 8495733 single base substitution C T synonymous_variant I188I 564C>T CLLE-ES 19 8490451 8490451 single base substitution A G downstream_gene_variant CLLE-ES 19 8490451 8490451 single base substitution A G intron_variant CLLE-ES 19 8496815 8496815 single base substitution C G downstream_gene_variant CLLE-ES 19 8496815 8496815 single base substitution C G intron_variant COAD-US 19 8491523 8491523 single base substitution G T downstream_gene_variant COAD-US 19 8491523 8491523 single base substitution G T exon_variant COAD-US 19 8491523 8491523 single base substitution G T intron_variant COAD-US 19 8491523 8491523 single base substitution G T missense_variant E69D 207G>T COAD-US 19 8503345 8503345 single base substitution G C intron_variant COAD-US 19 8503345 8503345 single base substitution G C missense_variant R149P 446G>C COAD-US 19 8503345 8503345 single base substitution G C missense_variant R219P 656G>C COCA-CN 19 8486776 8486776 single base substitution G A missense_variant G18S 52G>A COCA-CN 19 8486776 8486776 single base substitution G A upstream_gene_variant COCA-CN 19 8491471 8491471 single base substitution T C downstream_gene_variant COCA-CN 19 8491471 8491471 single base substitution T C intron_variant COCA-CN 19 8491584 8491584 single base substitution C T downstream_gene_variant COCA-CN 19 8491584 8491584 single base substitution C T exon_variant COCA-CN 19 8491584 8491584 single base substitution C T intron_variant COCA-CN 19 8491584 8491584 single base substitution C T missense_variant H90Y 268C>T COCA-CN 19 8491671 8491671 single base substitution C T downstream_gene_variant COCA-CN 19 8491671 8491671 single base substitution C T exon_variant COCA-CN 19 8491671 8491671 single base substitution C T intron_variant COCA-CN 19 8491671 8491671 single base substitution C T missense_variant P119S 355C>T COCA-CN 19 8495624 8495624 single base substitution C T downstream_gene_variant COCA-CN 19 8495624 8495624 single base substitution C T exon_variant COCA-CN 19 8495624 8495624 single base substitution C T intron_variant COCA-CN 19 8495624 8495624 single base substitution C T missense_variant A152V 455C>T ESAD-UK 19 8473218 8473218 single base substitution C A upstream_gene_variant ESAD-UK 19 8473660 8473660 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 8475307 8475307 single base substitution C T upstream_gene_variant ESAD-UK 19 8476845 8476845 single base substitution T A upstream_gene_variant ESAD-UK 19 8478000 8478000 single base substitution T C upstream_gene_variant ESAD-UK 19 8478014 8478014 single base substitution A C upstream_gene_variant ESAD-UK 19 8479458 8479458 single base substitution G A intron_variant ESAD-UK 19 8479458 8479458 single base substitution G A upstream_gene_variant ESAD-UK 19 8480574 8480574 single base substitution C A intron_variant ESAD-UK 19 8480574 8480574 single base substitution C A upstream_gene_variant ESAD-UK 19 8481954 8481954 single base substitution T C intron_variant ESAD-UK 19 8481954 8481954 single base substitution T C upstream_gene_variant ESAD-UK 19 8485084 8485084 single base substitution T G intron_variant ESAD-UK 19 8485084 8485084 single base substitution T G upstream_gene_variant ESAD-UK 19 8485346 8485346 single base substitution G A intron_variant ESAD-UK 19 8485346 8485346 single base substitution G A upstream_gene_variant ESAD-UK 19 8485999 8485999 deletion of <=200bp T - intron_variant ESAD-UK 19 8485999 8485999 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 8499395 8499395 single base substitution A T downstream_gene_variant ESAD-UK 19 8499395 8499395 single base substitution A T intron_variant ESAD-UK 19 8501034 8501034 single base substitution T G intron_variant ESAD-UK 19 8502689 8502689 single base substitution C A intron_variant ESAD-UK 19 8503664 8503664 single base substitution G C 3_prime_UTR_variant ESAD-UK 19 8503664 8503664 single base substitution G C downstream_gene_variant ESAD-UK 19 8506195 8506195 single base substitution A G downstream_gene_variant ESAD-UK 19 8508831 8508831 single base substitution A C downstream_gene_variant ESCA-CN 19 8486811 8486811 single base substitution G A exon_variant ESCA-CN 19 8486811 8486811 single base substitution G A synonymous_variant T29T 87G>A KIRC-US 19 8486884 8486884 single base substitution G A exon_variant KIRC-US 19 8486884 8486884 single base substitution G A intron_variant KIRC-US 19 8486884 8486884 single base substitution G A missense_variant A54T 160G>A KIRP-US 19 8503277 8503277 single base substitution C T intron_variant KIRP-US 19 8503277 8503277 single base substitution C T synonymous_variant S126S 378C>T KIRP-US 19 8503277 8503277 single base substitution C T synonymous_variant S196S 588C>T LAML-KR 19 8486025 8486025 single base substitution G T intron_variant LAML-KR 19 8486025 8486025 single base substitution G T upstream_gene_variant LAML-KR 19 8492902 8492902 single base substitution G C downstream_gene_variant LAML-KR 19 8492902 8492902 single base substitution G C intron_variant LAML-KR 19 8496548 8496548 single base substitution T C downstream_gene_variant LAML-KR 19 8496548 8496548 single base substitution T C intron_variant LAML-KR 19 8496549 8496549 single base substitution T C downstream_gene_variant LAML-KR 19 8496549 8496549 single base substitution T C intron_variant LAML-KR 19 8496550 8496550 single base substitution G A downstream_gene_variant LAML-KR 19 8496550 8496550 single base substitution G A intron_variant LICA-FR 19 8495701 8495701 single base substitution C G downstream_gene_variant LICA-FR 19 8495701 8495701 single base substitution C G exon_variant LICA-FR 19 8495701 8495701 single base substitution C G intron_variant LICA-FR 19 8495701 8495701 single base substitution C G missense_variant L178V 532C>G LICA-FR 19 8503622 8503622 single base substitution T G 3_prime_UTR_variant LICA-FR 19 8503622 8503622 single base substitution T G downstream_gene_variant LINC-JP 19 8474110 8474110 single base substitution C T upstream_gene_variant LINC-JP 19 8507584 8507584 single base substitution G C downstream_gene_variant LIRI-JP 19 8475790 8475790 single base substitution C A upstream_gene_variant LIRI-JP 19 8476591 8476591 single base substitution A G upstream_gene_variant LIRI-JP 19 8479217 8479217 single base substitution G A intron_variant LIRI-JP 19 8479217 8479217 single base substitution G A upstream_gene_variant LIRI-JP 19 8490248 8490248 single base substitution C T downstream_gene_variant LIRI-JP 19 8490248 8490248 single base substitution C T intron_variant LIRI-JP 19 8491375 8491375 single base substitution A T downstream_gene_variant LIRI-JP 19 8491375 8491375 single base substitution A T intron_variant LIRI-JP 19 8494406 8494406 single base substitution T C downstream_gene_variant LIRI-JP 19 8494406 8494406 single base substitution T C intron_variant LIRI-JP 19 8499729 8499729 single base substitution T C downstream_gene_variant LIRI-JP 19 8499729 8499729 single base substitution T C intron_variant LIRI-JP 19 8506894 8506894 single base substitution G A downstream_gene_variant LUSC-KR 19 8473660 8473660 single base substitution T A upstream_gene_variant LUSC-KR 19 8476206 8476206 single base substitution C G upstream_gene_variant LUSC-KR 19 8476863 8476863 single base substitution G C upstream_gene_variant LUSC-KR 19 8478053 8478053 single base substitution G T upstream_gene_variant LUSC-KR 19 8481605 8481605 single base substitution C T intron_variant LUSC-KR 19 8481605 8481605 single base substitution C T upstream_gene_variant LUSC-KR 19 8486293 8486293 single base substitution A T intron_variant LUSC-KR 19 8486293 8486293 single base substitution A T upstream_gene_variant LUSC-KR 19 8491348 8491348 single base substitution A G downstream_gene_variant LUSC-KR 19 8491348 8491348 single base substitution A G intron_variant LUSC-KR 19 8493375 8493375 single base substitution C T downstream_gene_variant LUSC-KR 19 8493375 8493375 single base substitution C T intron_variant LUSC-KR 19 8494059 8494059 single base substitution G A downstream_gene_variant LUSC-KR 19 8494059 8494059 single base substitution G A intron_variant LUSC-KR 19 8494802 8494802 single base substitution G C downstream_gene_variant LUSC-KR 19 8494802 8494802 single base substitution G C intron_variant LUSC-KR 19 8500489 8500489 single base substitution C T downstream_gene_variant LUSC-KR 19 8500489 8500489 single base substitution C T intron_variant LUSC-KR 19 8500491 8500491 single base substitution C T downstream_gene_variant LUSC-KR 19 8500491 8500491 single base substitution C T intron_variant LUSC-KR 19 8506211 8506211 single base substitution C T downstream_gene_variant LUSC-KR 19 8508632 8508632 single base substitution C T downstream_gene_variant LUSC-US 19 8491529 8491529 single base substitution G T downstream_gene_variant LUSC-US 19 8491529 8491529 single base substitution G T exon_variant LUSC-US 19 8491529 8491529 single base substitution G T intron_variant LUSC-US 19 8491529 8491529 single base substitution G T synonymous_variant A71A 213G>T LUSC-US 19 8491686 8491686 single base substitution G A downstream_gene_variant LUSC-US 19 8491686 8491686 single base substitution G A intron_variant LUSC-US 19 8491686 8491686 single base substitution G A missense_variant E124K 370G>A LUSC-US 19 8491686 8491686 single base substitution G A splice_region_variant LUSC-US 19 8503280 8503280 single base substitution C T intron_variant LUSC-US 19 8503280 8503280 single base substitution C T synonymous_variant F127F 381C>T LUSC-US 19 8503280 8503280 single base substitution C T synonymous_variant F197F 591C>T MALY-DE 19 8474634 8474638 deletion of <=200bp AAAAT - upstream_gene_variant MALY-DE 19 8503573 8503573 single base substitution C T 3_prime_UTR_variant MALY-DE 19 8503780 8503780 single base substitution T G 3_prime_UTR_variant MALY-DE 19 8503780 8503780 single base substitution T G downstream_gene_variant MELA-AU 19 8473189 8473189 single base substitution C A upstream_gene_variant MELA-AU 19 8473254 8473254 single base substitution C T upstream_gene_variant MELA-AU 19 8473313 8473313 single base substitution C T upstream_gene_variant MELA-AU 19 8474405 8474405 single base substitution A G upstream_gene_variant MELA-AU 19 8474935 8474935 single base substitution T C upstream_gene_variant MELA-AU 19 8474987 8474987 single base substitution C T upstream_gene_variant MELA-AU 19 8474991 8474991 single base substitution C T upstream_gene_variant MELA-AU 19 8475378 8475378 single base substitution C T upstream_gene_variant MELA-AU 19 8476128 8476128 single base substitution A T upstream_gene_variant MELA-AU 19 8477084 8477084 single base substitution G A upstream_gene_variant MELA-AU 19 8477197 8477197 single base substitution C T upstream_gene_variant MELA-AU 19 8477958 8477958 single base substitution G A upstream_gene_variant MELA-AU 19 8477968 8477968 single base substitution G A upstream_gene_variant MELA-AU 19 8477968 8477969 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 8477998 8477998 single base substitution G A upstream_gene_variant MELA-AU 19 8478003 8478003 single base substitution G A upstream_gene_variant MELA-AU 19 8478103 8478103 single base substitution G A upstream_gene_variant MELA-AU 19 8478838 8478838 single base substitution C T intron_variant MELA-AU 19 8478838 8478838 single base substitution C T upstream_gene_variant MELA-AU 19 8480294 8480294 single base substitution A G intron_variant MELA-AU 19 8480294 8480294 single base substitution A G upstream_gene_variant MELA-AU 19 8480760 8480760 single base substitution C T intron_variant MELA-AU 19 8480760 8480760 single base substitution C T upstream_gene_variant MELA-AU 19 8481053 8481053 single base substitution C T intron_variant MELA-AU 19 8481053 8481053 single base substitution C T upstream_gene_variant MELA-AU 19 8481486 8481486 single base substitution C T intron_variant MELA-AU 19 8481486 8481486 single base substitution C T upstream_gene_variant MELA-AU 19 8481564 8481565 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 8481564 8481565 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 8482229 8482229 single base substitution G A intron_variant MELA-AU 19 8482229 8482229 single base substitution G A upstream_gene_variant MELA-AU 19 8482363 8482364 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 8482363 8482364 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 8484865 8484865 single base substitution A G intron_variant MELA-AU 19 8484865 8484865 single base substitution A G upstream_gene_variant MELA-AU 19 8485036 8485036 single base substitution C T intron_variant MELA-AU 19 8485036 8485036 single base substitution C T upstream_gene_variant MELA-AU 19 8485096 8485096 single base substitution G A intron_variant MELA-AU 19 8485096 8485096 single base substitution G A upstream_gene_variant MELA-AU 19 8485854 8485854 single base substitution C T intron_variant MELA-AU 19 8485854 8485854 single base substitution C T upstream_gene_variant MELA-AU 19 8486585 8486585 single base substitution C T intron_variant MELA-AU 19 8486585 8486585 single base substitution C T upstream_gene_variant MELA-AU 19 8486653 8486653 single base substitution C T intron_variant MELA-AU 19 8486653 8486653 single base substitution C T upstream_gene_variant MELA-AU 19 8486754 8486754 single base substitution C T synonymous_variant P10P 30C>T MELA-AU 19 8486754 8486754 single base substitution C T upstream_gene_variant MELA-AU 19 8487105 8487105 single base substitution C T downstream_gene_variant MELA-AU 19 8487105 8487105 single base substitution C T intron_variant MELA-AU 19 8487480 8487480 single base substitution T C downstream_gene_variant MELA-AU 19 8487480 8487480 single base substitution T C intron_variant MELA-AU 19 8487712 8487712 single base substitution C T downstream_gene_variant MELA-AU 19 8487712 8487712 single base substitution C T intron_variant MELA-AU 19 8487801 8487801 single base substitution C T downstream_gene_variant MELA-AU 19 8487801 8487801 single base substitution C T intron_variant MELA-AU 19 8489578 8489578 single base substitution C T downstream_gene_variant MELA-AU 19 8489578 8489578 single base substitution C T intron_variant MELA-AU 19 8489578 8489579 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 8489578 8489579 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 8489798 8489798 single base substitution C T downstream_gene_variant MELA-AU 19 8489798 8489798 single base substitution C T intron_variant MELA-AU 19 8489830 8489830 single base substitution T G downstream_gene_variant MELA-AU 19 8489830 8489830 single base substitution T G intron_variant MELA-AU 19 8489899 8489899 single base substitution C T downstream_gene_variant MELA-AU 19 8489899 8489899 single base substitution C T intron_variant MELA-AU 19 8490375 8490375 single base substitution C T downstream_gene_variant MELA-AU 19 8490375 8490375 single base substitution C T intron_variant MELA-AU 19 8491315 8491315 single base substitution T G downstream_gene_variant MELA-AU 19 8491315 8491315 single base substitution T G intron_variant MELA-AU 19 8491618 8491618 single base substitution C T downstream_gene_variant MELA-AU 19 8491618 8491618 single base substitution C T exon_variant MELA-AU 19 8491618 8491618 single base substitution C T intron_variant MELA-AU 19 8491618 8491618 single base substitution C T missense_variant S101F 302C>T MELA-AU 19 8493295 8493295 single base substitution C T downstream_gene_variant MELA-AU 19 8493295 8493295 single base substitution C T intron_variant MELA-AU 19 8493416 8493416 single base substitution C T downstream_gene_variant MELA-AU 19 8493416 8493416 single base substitution C T intron_variant MELA-AU 19 8493787 8493787 single base substitution C T downstream_gene_variant MELA-AU 19 8493787 8493787 single base substitution C T intron_variant MELA-AU 19 8493902 8493902 single base substitution C T downstream_gene_variant MELA-AU 19 8493902 8493902 single base substitution C T intron_variant MELA-AU 19 8494023 8494023 single base substitution C T downstream_gene_variant MELA-AU 19 8494023 8494023 single base substitution C T intron_variant MELA-AU 19 8494719 8494719 single base substitution T A downstream_gene_variant MELA-AU 19 8494719 8494719 single base substitution T A intron_variant MELA-AU 19 8495125 8495125 single base substitution T G downstream_gene_variant MELA-AU 19 8495125 8495125 single base substitution T G intron_variant MELA-AU 19 8495608 8495608 single base substitution T C downstream_gene_variant MELA-AU 19 8495608 8495608 single base substitution T C exon_variant MELA-AU 19 8495608 8495608 single base substitution T C intron_variant MELA-AU 19 8495608 8495608 single base substitution T C missense_variant F147L 439T>C MELA-AU 19 8495814 8495814 single base substitution G A downstream_gene_variant MELA-AU 19 8495814 8495814 single base substitution G A intron_variant MELA-AU 19 8496300 8496300 single base substitution G T downstream_gene_variant MELA-AU 19 8496300 8496300 single base substitution G T intron_variant MELA-AU 19 8496459 8496459 single base substitution T G downstream_gene_variant MELA-AU 19 8496459 8496459 single base substitution T G intron_variant MELA-AU 19 8496513 8496513 single base substitution G T downstream_gene_variant MELA-AU 19 8496513 8496513 single base substitution G T intron_variant MELA-AU 19 8497501 8497501 single base substitution C T downstream_gene_variant MELA-AU 19 8497501 8497501 single base substitution C T intron_variant MELA-AU 19 8497608 8497608 single base substitution G T downstream_gene_variant MELA-AU 19 8497608 8497608 single base substitution G T intron_variant MELA-AU 19 8497791 8497791 single base substitution T G downstream_gene_variant MELA-AU 19 8497791 8497791 single base substitution T G intron_variant MELA-AU 19 8498016 8498016 single base substitution C T downstream_gene_variant MELA-AU 19 8498016 8498016 single base substitution C T intron_variant MELA-AU 19 8498683 8498683 single base substitution A T downstream_gene_variant MELA-AU 19 8498683 8498683 single base substitution A T intron_variant MELA-AU 19 8498841 8498841 single base substitution A G downstream_gene_variant MELA-AU 19 8498841 8498841 single base substitution A G intron_variant MELA-AU 19 8498917 8498917 single base substitution G A downstream_gene_variant MELA-AU 19 8498917 8498917 single base substitution G A intron_variant MELA-AU 19 8499633 8499633 single base substitution C T downstream_gene_variant MELA-AU 19 8499633 8499633 single base substitution C T intron_variant MELA-AU 19 8499716 8499716 single base substitution G T downstream_gene_variant MELA-AU 19 8499716 8499716 single base substitution G T intron_variant MELA-AU 19 8500292 8500292 single base substitution C T downstream_gene_variant MELA-AU 19 8500292 8500292 single base substitution C T intron_variant MELA-AU 19 8500701 8500701 single base substitution C T downstream_gene_variant MELA-AU 19 8500701 8500701 single base substitution C T intron_variant MELA-AU 19 8500782 8500782 single base substitution C T intron_variant MELA-AU 19 8501385 8501385 single base substitution C T intron_variant MELA-AU 19 8501416 8501416 single base substitution C T intron_variant MELA-AU 19 8501948 8501948 single base substitution C T intron_variant MELA-AU 19 8502108 8502108 single base substitution C T intron_variant MELA-AU 19 8502266 8502266 single base substitution C T intron_variant MELA-AU 19 8502338 8502338 single base substitution C T intron_variant MELA-AU 19 8502462 8502462 single base substitution C T intron_variant MELA-AU 19 8502811 8502811 single base substitution T A intron_variant MELA-AU 19 8503033 8503033 single base substitution C T intron_variant MELA-AU 19 8503227 8503228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 8503332 8503332 single base substitution C T intron_variant MELA-AU 19 8503332 8503332 single base substitution C T missense_variant R145C 433C>T MELA-AU 19 8503332 8503332 single base substitution C T missense_variant R215C 643C>T MELA-AU 19 8503375 8503375 single base substitution A T intron_variant MELA-AU 19 8503375 8503375 single base substitution A T missense_variant H159L 476A>T MELA-AU 19 8503375 8503375 single base substitution A T missense_variant H229L 686A>T MELA-AU 19 8503771 8503771 single base substitution C T 3_prime_UTR_variant MELA-AU 19 8503771 8503771 single base substitution C T downstream_gene_variant MELA-AU 19 8504021 8504021 single base substitution G A downstream_gene_variant MELA-AU 19 8504080 8504080 single base substitution G A downstream_gene_variant MELA-AU 19 8504143 8504143 single base substitution C T downstream_gene_variant MELA-AU 19 8505826 8505826 single base substitution C T downstream_gene_variant MELA-AU 19 8506361 8506361 single base substitution G A downstream_gene_variant MELA-AU 19 8507227 8507227 single base substitution A T downstream_gene_variant MELA-AU 19 8507489 8507489 single base substitution C T downstream_gene_variant MELA-AU 19 8507696 8507696 single base substitution G A downstream_gene_variant MELA-AU 19 8507698 8507698 single base substitution C A downstream_gene_variant MELA-AU 19 8508213 8508213 single base substitution G A downstream_gene_variant MELA-AU 19 8508285 8508285 single base substitution C T downstream_gene_variant MELA-AU 19 8508441 8508441 single base substitution C T downstream_gene_variant MELA-AU 19 8508561 8508561 single base substitution C T downstream_gene_variant MELA-AU 19 8508716 8508716 single base substitution G A downstream_gene_variant ORCA-IN 19 8473780 8473780 single base substitution C A upstream_gene_variant ORCA-IN 19 8482383 8482383 single base substitution G A intron_variant ORCA-IN 19 8482383 8482383 single base substitution G A upstream_gene_variant ORCA-IN 19 8500750 8500750 insertion of <=200bp - T downstream_gene_variant ORCA-IN 19 8500750 8500750 insertion of <=200bp - T intron_variant OV-AU 19 8479601 8479601 single base substitution G C intron_variant OV-AU 19 8479601 8479601 single base substitution G C upstream_gene_variant OV-AU 19 8491007 8491007 single base substitution C A downstream_gene_variant OV-AU 19 8491007 8491007 single base substitution C A intron_variant OV-AU 19 8492489 8492489 single base substitution A G downstream_gene_variant OV-AU 19 8492489 8492489 single base substitution A G intron_variant OV-AU 19 8501760 8501760 single base substitution G C intron_variant OV-AU 19 8506590 8506590 single base substitution G C downstream_gene_variant OV-US 19 8491561 8491561 single base substitution G C downstream_gene_variant OV-US 19 8491561 8491561 single base substitution G C exon_variant OV-US 19 8491561 8491561 single base substitution G C intron_variant OV-US 19 8491561 8491561 single base substitution G C missense_variant C82S 245G>C PACA-AU 19 8474450 8474450 single base substitution G A upstream_gene_variant PACA-AU 19 8475094 8475094 single base substitution T G upstream_gene_variant PACA-AU 19 8478022 8478022 single base substitution C G upstream_gene_variant PACA-AU 19 8480948 8480948 single base substitution C T intron_variant PACA-AU 19 8480948 8480948 single base substitution C T upstream_gene_variant PACA-AU 19 8481082 8481082 single base substitution C T intron_variant PACA-AU 19 8481082 8481082 single base substitution C T upstream_gene_variant PACA-AU 19 8486013 8486013 single base substitution T G intron_variant PACA-AU 19 8486013 8486013 single base substitution T G upstream_gene_variant PACA-AU 19 8495287 8495287 single base substitution C T downstream_gene_variant PACA-AU 19 8495287 8495287 single base substitution C T intron_variant PACA-AU 19 8507359 8507359 single base substitution C A downstream_gene_variant PACA-CA 19 8474533 8474533 single base substitution C T upstream_gene_variant PACA-CA 19 8476854 8476854 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 8481354 8481354 single base substitution T C intron_variant PACA-CA 19 8481354 8481354 single base substitution T C upstream_gene_variant PACA-CA 19 8481625 8481625 insertion of <=200bp - T intron_variant PACA-CA 19 8481625 8481625 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 8485064 8485064 insertion of <=200bp - AAAG intron_variant PACA-CA 19 8485064 8485064 insertion of <=200bp - AAAG upstream_gene_variant PACA-CA 19 8491560 8491560 single base substitution T C downstream_gene_variant PACA-CA 19 8491560 8491560 single base substitution T C exon_variant PACA-CA 19 8491560 8491560 single base substitution T C intron_variant PACA-CA 19 8491560 8491560 single base substitution T C missense_variant C82R 244T>C PACA-CA 19 8493724 8493724 insertion of <=200bp - G downstream_gene_variant PACA-CA 19 8493724 8493724 insertion of <=200bp - G intron_variant PACA-CA 19 8493727 8493732 deletion of <=200bp AATCCC - downstream_gene_variant PACA-CA 19 8493727 8493732 deletion of <=200bp AATCCC - intron_variant PACA-CA 19 8500144 8500144 single base substitution C T downstream_gene_variant PACA-CA 19 8500144 8500144 single base substitution C T intron_variant PACA-CA 19 8501907 8501907 single base substitution C G intron_variant PACA-CA 19 8503492 8503492 single base substitution G A 3_prime_UTR_variant PACA-CA 19 8504697 8504697 deletion of <=200bp C - downstream_gene_variant PACA-CA 19 8506357 8506357 single base substitution G A downstream_gene_variant PACA-CA 19 8508278 8508278 single base substitution A G downstream_gene_variant PAEN-AU 19 8481157 8481157 single base substitution T G intron_variant PAEN-AU 19 8481157 8481157 single base substitution T G upstream_gene_variant PAEN-AU 19 8502490 8502490 single base substitution C T intron_variant PAEN-IT 19 8477699 8477699 single base substitution G C upstream_gene_variant PAEN-IT 19 8478956 8478956 single base substitution G T intron_variant PAEN-IT 19 8478956 8478956 single base substitution G T upstream_gene_variant PAEN-IT 19 8504048 8504048 single base substitution G A downstream_gene_variant PBCA-DE 19 8475257 8475257 insertion of <=200bp - A upstream_gene_variant PBCA-DE 19 8475355 8475355 single base substitution C T upstream_gene_variant PBCA-DE 19 8487642 8487642 single base substitution A G downstream_gene_variant PBCA-DE 19 8487642 8487642 single base substitution A G intron_variant PBCA-DE 19 8491175 8491175 single base substitution T G downstream_gene_variant PBCA-DE 19 8491175 8491175 single base substitution T G intron_variant PBCA-DE 19 8499007 8499007 single base substitution C A downstream_gene_variant PBCA-DE 19 8499007 8499007 single base substitution C A intron_variant PRAD-CA 19 8488903 8488903 single base substitution A G downstream_gene_variant PRAD-CA 19 8488903 8488903 single base substitution A G intron_variant PRAD-CA 19 8503713 8503713 single base substitution C T 3_prime_UTR_variant PRAD-CA 19 8503713 8503713 single base substitution C T downstream_gene_variant PRAD-UK 19 8475461 8475461 single base substitution T A upstream_gene_variant PRAD-UK 19 8500202 8500202 single base substitution A T downstream_gene_variant PRAD-UK 19 8500202 8500202 single base substitution A T intron_variant RECA-EU 19 8492506 8492506 single base substitution A G downstream_gene_variant RECA-EU 19 8492506 8492506 single base substitution A G intron_variant SKCA-BR 19 8474146 8474146 single base substitution G A upstream_gene_variant SKCA-BR 19 8474938 8474938 insertion of <=200bp - CTAAA upstream_gene_variant SKCA-BR 19 8476037 8476037 single base substitution C T upstream_gene_variant SKCA-BR 19 8477968 8477968 single base substitution G A upstream_gene_variant SKCA-BR 19 8479407 8479407 single base substitution A G intron_variant SKCA-BR 19 8479407 8479407 single base substitution A G upstream_gene_variant SKCA-BR 19 8483853 8483853 single base substitution T C intron_variant SKCA-BR 19 8483853 8483853 single base substitution T C upstream_gene_variant SKCA-BR 19 8484526 8484526 single base substitution C T intron_variant SKCA-BR 19 8484526 8484526 single base substitution C T upstream_gene_variant SKCA-BR 19 8484710 8484710 single base substitution T A intron_variant SKCA-BR 19 8484710 8484710 single base substitution T A upstream_gene_variant SKCA-BR 19 8485487 8485487 single base substitution T G intron_variant SKCA-BR 19 8485487 8485487 single base substitution T G upstream_gene_variant SKCA-BR 19 8485942 8485942 single base substitution C T intron_variant SKCA-BR 19 8485942 8485942 single base substitution C T upstream_gene_variant SKCA-BR 19 8485977 8485977 single base substitution C T intron_variant SKCA-BR 19 8485977 8485977 single base substitution C T upstream_gene_variant SKCA-BR 19 8486115 8486115 single base substitution T C intron_variant SKCA-BR 19 8486115 8486115 single base substitution T C upstream_gene_variant SKCA-BR 19 8487815 8487815 single base substitution T C downstream_gene_variant SKCA-BR 19 8487815 8487815 single base substitution T C intron_variant SKCA-BR 19 8488869 8488869 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 19 8488869 8488869 insertion of <=200bp - CA intron_variant SKCA-BR 19 8493398 8493398 single base substitution G T downstream_gene_variant SKCA-BR 19 8493398 8493398 single base substitution G T intron_variant SKCA-BR 19 8493605 8493605 single base substitution T C downstream_gene_variant SKCA-BR 19 8493605 8493605 single base substitution T C intron_variant SKCA-BR 19 8494275 8494275 single base substitution G A downstream_gene_variant SKCA-BR 19 8494275 8494275 single base substitution G A intron_variant SKCA-BR 19 8495528 8495528 single base substitution C T downstream_gene_variant SKCA-BR 19 8495528 8495528 single base substitution C T intron_variant SKCA-BR 19 8498387 8498387 single base substitution C T downstream_gene_variant SKCA-BR 19 8498387 8498387 single base substitution C T intron_variant SKCA-BR 19 8498559 8498560 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 19 8498559 8498560 deletion of <=200bp CA - intron_variant SKCA-BR 19 8501679 8501679 single base substitution A T intron_variant SKCA-BR 19 8502104 8502104 single base substitution T C intron_variant SKCA-BR 19 8502232 8502233 deletion of <=200bp TA - intron_variant SKCA-BR 19 8502478 8502478 single base substitution A C intron_variant SKCA-BR 19 8503276 8503276 single base substitution C T intron_variant SKCA-BR 19 8503276 8503276 single base substitution C T missense_variant S126F 377C>T SKCA-BR 19 8503276 8503276 single base substitution C T missense_variant S196F 587C>T SKCA-BR 19 8503764 8503764 single base substitution G T 3_prime_UTR_variant SKCA-BR 19 8503764 8503764 single base substitution G T downstream_gene_variant SKCA-BR 19 8504895 8504895 single base substitution C T downstream_gene_variant SKCA-BR 19 8505180 8505180 single base substitution C T downstream_gene_variant SKCA-BR 19 8508770 8508770 single base substitution A C downstream_gene_variant SKCM-US 19 8486870 8486870 single base substitution C T exon_variant SKCM-US 19 8486870 8486870 single base substitution C T intron_variant SKCM-US 19 8486870 8486870 single base substitution C T missense_variant S49F 146C>T SKCM-US 19 8486881 8486881 single base substitution C T exon_variant SKCM-US 19 8486881 8486881 single base substitution C T intron_variant SKCM-US 19 8486881 8486881 single base substitution C T missense_variant R53C 157C>T SKCM-US 19 8491502 8491502 single base substitution T A downstream_gene_variant SKCM-US 19 8491502 8491502 single base substitution T A exon_variant SKCM-US 19 8491502 8491502 single base substitution T A intron_variant SKCM-US 19 8491502 8491502 single base substitution T A synonymous_variant P62P 186T>A SKCM-US 19 8491579 8491579 single base substitution C T downstream_gene_variant SKCM-US 19 8491579 8491579 single base substitution C T exon_variant SKCM-US 19 8491579 8491579 single base substitution C T intron_variant SKCM-US 19 8491579 8491579 single base substitution C T missense_variant A88V 263C>T SKCM-US 19 8495677 8495677 single base substitution C T downstream_gene_variant SKCM-US 19 8495677 8495677 single base substitution C T exon_variant SKCM-US 19 8495677 8495677 single base substitution C T intron_variant SKCM-US 19 8495677 8495677 single base substitution C T missense_variant H170Y 508C>T SKCM-US 19 8495718 8495718 single base substitution C T downstream_gene_variant SKCM-US 19 8495718 8495718 single base substitution C T exon_variant SKCM-US 19 8495718 8495718 single base substitution C T intron_variant SKCM-US 19 8495718 8495718 single base substitution C T synonymous_variant I183I 549C>T SKCM-US 19 8503361 8503361 single base substitution C A intron_variant SKCM-US 19 8503361 8503361 single base substitution C A synonymous_variant P154P 462C>A SKCM-US 19 8503361 8503361 single base substitution C A synonymous_variant P224P 672C>A SKCM-US 19 8503369 8503369 single base substitution C T intron_variant SKCM-US 19 8503369 8503369 single base substitution C T missense_variant P157L 470C>T SKCM-US 19 8503369 8503369 single base substitution C T missense_variant P227L 680C>T STAD-US 19 8491553 8491553 single base substitution G A downstream_gene_variant STAD-US 19 8491553 8491553 single base substitution G A exon_variant STAD-US 19 8491553 8491553 single base substitution G A intron_variant STAD-US 19 8491553 8491553 single base substitution G A synonymous_variant P79P 237G>A STAD-US 19 8495651 8495651 single base substitution G A downstream_gene_variant STAD-US 19 8495651 8495651 single base substitution G A exon_variant STAD-US 19 8495651 8495651 single base substitution G A intron_variant STAD-US 19 8495651 8495651 single base substitution G A missense_variant R161H 482G>A UCEC-US 19 8491581 8491581 single base substitution G A downstream_gene_variant UCEC-US 19 8491581 8491581 single base substitution G A exon_variant UCEC-US 19 8491581 8491581 single base substitution G A intron_variant UCEC-US 19 8491581 8491581 single base substitution G A missense_variant V89M 265G>A UCEC-US 19 8503332 8503332 single base substitution C T intron_variant UCEC-US 19 8503332 8503332 single base substitution C T missense_variant R145C 433C>T UCEC-US 19 8503332 8503332 single base substitution C T missense_variant R215C 643C>T UCEC-US 19 8503351 8503351 single base substitution C T intron_variant UCEC-US 19 8503351 8503351 single base substitution C T missense_variant A151V 452C>T UCEC-US 19 8503351 8503351 single base substitution C T missense_variant A221V 662C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-44-T COSM4504722 c.672C>T p.P224P Substitution - coding silent 19:8438477-8438477 + Pat_76_A COSM5857156 c.245G>A p.C82Y Substitution - Missense 19:8426677-8426677 + TCGA-AD-6889-01 COSM1397761 c.207G>T p.E69D Substitution - Missense 19:8426639-8426639 + TCGA-EE-A2A2-06 COSM3541598 c.146C>T p.S49F Substitution - Missense 19:8421986-8421986 + GC_310T-GC_310N COSM4773602 c.109G>A p.V37M Substitution - Missense 19:8421949-8421949 + TCGA-BR-8368-01 COSM4083031 c.482G>A p.R161H Substitution - Missense 19:8430767-8430767 + PT49 COSM5936476 c.35C>T p.S12F Substitution - Missense 19:8421875-8421875 + CSCC-27-T COSM4498445 c.51C>T p.S17S Substitution - coding silent 19:8421891-8421891 + CHC1041T COSM3668395 c.532C>G p.L178V Substitution - Missense 19:8430817-8430817 + Pat_76_A COSM5857155 c.245G>A p.C82Y Substitution - Missense 19:8426677-8426677 + TCGA-IZ-A6M9-01 COSM2730305 c.588C>T p.S196S Substitution - coding silent 19:8438393-8438393 + T3049 COSM4700685 c.449C>T p.P150L Substitution - Missense 19:8430734-8430734 + GC_310T-GC_310N COSM4773603 c.109G>A p.V37M Substitution - Missense 19:8421949-8421949 + BD169T COSM5505639 c.564C>T p.I188I Substitution - coding silent 19:8430849-8430849 + TCGA-CJ-4890-01 COSM3773926 c.160G>A p.A54T Substitution - Missense 19:8422000-8422000 + MedB-1 COSM5621221 c.476G>A p.C159Y Substitution - Missense 19:8430761-8430761 + GC_357T-GC_357N COSM2730294 c.237G>A p.P79P Substitution - coding silent 19:8426669-8426669 + CSCC-44-T COSM4504723 c.462C>T p.P154P Substitution - coding silent 19:8438477-8438477 + PCSI_0044_Pa_P COSM3378894 c.244T>C p.C82R Substitution - Missense 19:8426676-8426676 + TCGA-AA-A01K-01 COSM301532 c.182_183GT>AG p.G61>? Complex 19:8426614-8426615 + TCGA-EE-A2GR-06 COSM3541601 c.508C>T p.H170Y Substitution - Missense 19:8430793-8430793 + CSCC-62-T COSM4517528 c.362_363CC>TT p.P121L Substitution - Missense 19:8426794-8426795 + CRC-06T COSM5456792 c.268C>T p.H90Y Substitution - Missense 19:8426700-8426700 + STC291 COSM2730289 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + TCGA-WS-AB45-01 COSM1743756 c.52G>A p.G18S Substitution - Missense 19:8421892-8421892 + TCGA-61-2109-01 COSM117903 c.406G>T p.E136* Substitution - Nonsense 19:8438421-8438421 + SNUH_G16_S1 COSM3757435 c.656G>C p.R219P Substitution - Missense 19:8438461-8438461 + sysucc-1317T COSM5449380 c.355C>T p.P119S Substitution - Missense 19:8426787-8426787 + CSCC-62-T COSM4517527 c.362_363CC>TT p.P121L Substitution - Missense 19:8426794-8426795 + MOLT-4 COSM1680591 c.352C>T p.R118W Substitution - Missense 19:8426784-8426784 + TCGA-HU-A4GX-01 COSM2730293 c.237G>A p.P79P Substitution - coding silent 19:8426669-8426669 + SNUH_G76_S1 COSM440684 c.160G>A p.A54T Substitution - Missense 19:8422000-8422000 + Gp5D COSM2730279 c.30C>T p.P10P Substitution - coding silent 19:8421870-8421870 + GC_357T-GC_357N COSM2730293 c.237G>A p.P79P Substitution - coding silent 19:8426669-8426669 + sysucc-966T COSM1743756 c.52G>A p.G18S Substitution - Missense 19:8421892-8421892 + KM12 COSM2730299 c.390G>A p.G130G Substitution - coding silent 19:8430675-8430675 + PCSI_0044_Pa_P COSM3378895 c.244T>C p.C82R Substitution - Missense 19:8426676-8426676 + CHOL15 COSM1743755 c.52G>A p.G18S Substitution - Missense 19:8421892-8421892 + CHOL15 COSM1743756 c.52G>A p.G18S Substitution - Missense 19:8421892-8421892 + ESCC-059T COSM3938388 c.87G>A p.T29T Substitution - coding silent 19:8421927-8421927 + ACINAR28 COSM1735506 c.454G>A p.A152T Substitution - Missense 19:8430739-8430739 + TCGA-D9-A6EC-06 COSM4403725 c.186T>A p.P62P Substitution - coding silent 19:8426618-8426618 + 345973 COSM2730309 c.656G>A p.R219Q Substitution - Missense 19:8438461-8438461 + ESCC-059T COSM3938389 c.87G>A p.T29T Substitution - coding silent 19:8421927-8421927 + ESCC_129 COSM5641832 c.282G>T p.L94L Substitution - coding silent 19:8426714-8426714 + pfg181T COSM4749609 c.398C>T p.T133M Substitution - Missense 19:8430683-8430683 + TCGA-D1-A103-01 COSM1003520 c.433C>T p.R145C Substitution - Missense 19:8438448-8438448 + Gp5D COSM2730280 c.30C>T p.P10P Substitution - coding silent 19:8421870-8421870 + TCGA-EE-A2MS-06 COSM2730290 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + TCGA-ER-A19F-06 COSM3541603 c.672C>A p.P224P Substitution - coding silent 19:8438477-8438477 + TCGA-AM-5820-01 COSM3757436 c.446G>C p.R149P Substitution - Missense 19:8438461-8438461 + ESCC_129 COSM5641831 c.282G>T p.L94L Substitution - coding silent 19:8426714-8426714 + TCGA-DA-A1IC-06 COSM3541606 c.470C>T p.P157L Substitution - Missense 19:8438485-8438485 + U2940 COSM5621220 c.391C>T p.P131S Substitution - Missense 19:8430676-8430676 + Pat_44_A COSM5857157 c.400G>A p.E134K Substitution - Missense 19:8430685-8430685 + TCGA-ER-A19F-06 COSM3541604 c.462C>A p.P154P Substitution - coding silent 19:8438477-8438477 + Gp2D COSM2730279 c.30C>T p.P10P Substitution - coding silent 19:8421870-8421870 + CSCC-27-T COSM4498444 c.51C>T p.S17S Substitution - coding silent 19:8421891-8421891 + T3064 COSM4700687 c.507G>T p.K169N Substitution - Missense 19:8438522-8438522 + TCGA-66-2771-01 COSM715629 c.370G>A p.E124K Substitution - Missense 19:8426802-8426802 + TCGA-AM-5820-01 COSM3757435 c.656G>C p.R219P Substitution - Missense 19:8438461-8438461 + Pat_41_B COSM3541600 c.263C>T p.A88V Substitution - Missense 19:8426695-8426695 + 345973 COSM2730310 c.446G>A p.R149Q Substitution - Missense 19:8438461-8438461 + TCGA-D3-A2JO-06 COSM2730290 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + TCGA-AD-6889-01 COSM5129540 c.207G>T p.E69D Substitution - Missense 19:8426639-8426639 + AA1934 COSM4169024 c.89G>T p.G30V Substitution - Missense 19:8421929-8421929 + TCGA-36-1569-01 COSM77183 c.253A>T p.T85S Substitution - Missense 19:8426685-8426685 + PD13307a COSM5799625 c.97C>A p.P33T Substitution - Missense 19:8421937-8421937 + Gp2D COSM2730280 c.30C>T p.P10P Substitution - coding silent 19:8421870-8421870 + PT49 COSM5936475 c.35C>T p.S12F Substitution - Missense 19:8421875-8421875 + TCGA-CJ-4890-01 COSM440684 c.160G>A p.A54T Substitution - Missense 19:8422000-8422000 + TCGA-EE-A2MS-06 COSM2730289 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + BK0094 COSM4188883 c.221delA p.E74fs*73 Deletion - Frameshift 19:8426653-8426653 + T3064 COSM4700686 c.717G>T p.K239N Substitution - Missense 19:8438522-8438522 + TCGA-GN-A26A-06 COSM3541600 c.263C>T p.A88V Substitution - Missense 19:8426695-8426695 + TCGA-FS-A1ZC-06 COSM3541602 c.549C>T p.I183I Substitution - coding silent 19:8430834-8430834 + TCGA-EE-A2A2-06 COSM3541597 c.146C>T p.S49F Substitution - Missense 19:8421986-8421986 + Pat_41_B COSM3541599 c.263C>T p.A88V Substitution - Missense 19:8426695-8426695 + SNUH_G76_S1 COSM3773926 c.160G>A p.A54T Substitution - Missense 19:8422000-8422000 + PD7219a COSM5775219 c.366C>G p.L122L Substitution - coding silent 19:8426798-8426798 + sysucc-1317T COSM5449381 c.355C>T p.P119S Substitution - Missense 19:8426787-8426787 + MMG1 COSM3727503 c.342delA p.V115fs*12 Deletion - Frameshift 19:8426774-8426774 + MMG1 COSM3727504 c.342delA p.V115fs*32 Deletion - Frameshift 19:8426774-8426774 + STC291 COSM2730290 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + YUDIALE COSM1711742 c.502C>T p.R168W Substitution - Missense 19:8430787-8430787 + TCGA-33-4586-01 COSM715630 c.213G>T p.A71A Substitution - coding silent 19:8426645-8426645 + TCGA-D9-A6EC-06 COSM4403726 c.186T>A p.P62P Substitution - coding silent 19:8426618-8426618 + TCGA-23-1117-01 COSM75363 c.245G>C p.C82S Substitution - Missense 19:8426677-8426677 + AA1934 COSM4169025 c.89G>T p.G30V Substitution - Missense 19:8421929-8421929 + PD13307a COSM5799626 c.97C>A p.P33T Substitution - Missense 19:8421937-8421937 + U343 COSM5712848 c.461T>C p.I154T Substitution - Missense 19:8430746-8430746 + PD7219a COSM5775218 c.366C>G p.L122L Substitution - coding silent 19:8426798-8426798 + BK0094 COSM4188882 c.221delA p.E74fs*53 Deletion - Frameshift 19:8426653-8426653 + CRC-06T COSM5456791 c.268C>T p.H90Y Substitution - Missense 19:8426700-8426700 + sysucc-966T COSM1743755 c.52G>A p.G18S Substitution - Missense 19:8421892-8421892 + TCGA-GN-A26A-06 COSM3541599 c.263C>T p.A88V Substitution - Missense 19:8426695-8426695 + NCHP_DIPG081 COSM4746181 c.460A>G p.I154V Substitution - Missense 19:8430745-8430745 + TCGA-DA-A1IC-06 COSM3541605 c.680C>T p.P227L Substitution - Missense 19:8438485-8438485 + cSCCP4 COSM139116 c.95G>A p.G32E Substitution - Missense 19:8421935-8421935 + TCGA-D3-A2JO-06 COSM2730289 c.157C>T p.R53C Substitution - Missense 19:8421997-8421997 + CHEWS034 COSM1680591 c.352C>T p.R118W Substitution - Missense 19:8426784-8426784 + CHC1041T COSM3668395 c.532C>G p.L178V Substitution - Missense 19:8430817-8430817 + CHEWS034 COSM2730295 c.352C>T p.R118W Substitution - Missense 19:8426784-8426784 + TCGA-BT-A0YX-01 COSM418705 c.438G>A p.L146L Substitution - coding silent 19:8438453-8438453 + TCGA-HU-A4GX-01 COSM2730294 c.237G>A p.P79P Substitution - coding silent 19:8426669-8426669 + TCGA-B5-A0K9-01 COSM1003521 c.452C>T p.A151V Substitution - Missense 19:8438467-8438467 + TCGA-D1-A103-01 COSM1003519 c.265G>A p.V89M Substitution - Missense 19:8426697-8426697 + SNUH_G16_S1 COSM3757436 c.446G>C p.R149P Substitution - Missense 19:8438461-8438461 + TCGA-IZ-A6M9-01 COSM2730306 c.378C>T p.S126S Substitution - coding silent 19:8438393-8438393 + TCGA-66-2783-01 COSM715628 c.381C>T p.F127F Substitution - coding silent 19:8438396-8438396 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631861 19p13.2 613332

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A IntronicInsertion . c.373-110dupA 19 8495419 CM A T Missense p.T85S c.253A>T 19 8491569 OV C A Synonymous p.P224P c.672C>A 19 8503361 CM C T Missense p.A221V c.662C>T 19 8503351 UCEC C T Missense p.A88V c.263C>T 19 8491579 CM C T Missense p.H170Y c.508C>T 19 8495677 CM C T Missense p.P227L c.680C>T 19 8503369 CM C T Missense p.R53C c.157C>T 19 8486881 CM C T Missense p.S49F c.146C>T 19 8486870 CM C T Synonymous p.F197F c.591C>T 19 8503280 LUSC C T Synonymous p.I183I c.549C>T 19 8495718 CM C T Synonymous p.S78S c.234C>T 19 8491550 CM G A Missense p.E124K c.370G>A 19 8491686 LUSC G A Missense p.G18S c.52G>A 19 8486776 HNSC G A Synonymous p.L216L c.648G>A 19 8503337 BLCA G C Missense p.C82S c.245G>C 19 8491561 OV GT AG Missense p.G61E c.182_183delinsAG 19 8491498 COREAD G T Nonsense p.E206* c.616G>T 19 8503305 OV G T Synonymous p.A71A c.213G>T 19 8491529 LUSC T C SpliceDonorSNV . c.372+2T>C 19 8491690 STAD