Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 151236481 151236481 + Missense_Mutation SNP T T C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:151236481T>C c.259T>C c.(259-261)Tgc>Cgc p.C87R BLCA 1 151237991 151237991 + Missense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr1:151237991C>T c.560C>T c.(559-561)cCg>cTg p.P187L BLCA 1 151238074 151238074 + Missense_Mutation SNP G G C TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr1:151238074G>C c.643G>C c.(643-645)Gag>Cag p.E215Q BLCA 1 151238867 151238867 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr1:151238867G>C c.847G>C c.(847-849)Gag>Cag p.E283Q BLCA 1 151239669 151239669 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:151239669G>C c.984G>C c.(982-984)gtG>gtC p.V328V BLCA 1 151239818 151239818 + Nonstop_Mutation SNP G G T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:151239818G>T c.1133G>T c.(1132-1134)tGa>tTa p.*378L BRCA 1 151227268 151227268 + Missense_Mutation SNP G G C TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr1:151227268G>C c.10G>C c.(10-12)Gaa>Caa p.E4Q BRCA 1 151239035 151239035 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:151239035C>G c.935C>G c.(934-936)tCa>tGa p.S312* BRCA 1 151239784 151239784 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 g.chr1:151239784G>A c.1099G>A c.(1099-1101)Ggc>Agc p.G367S CESC 1 151234722 151234722 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:151234722C>T c.112C>T c.(112-114)Cat>Tat p.H38Y COAD 1 151234711 151234711 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:151234711A>G c.101A>G c.(100-102)aAc>aGc p.N34S COAD 1 151236495 151236495 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:151236495C>T c.273C>T c.(271-273)cgC>cgT p.R91R COAD 1 151237890 151237890 + Silent SNP G G T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:151237890G>T c.459G>T c.(457-459)ctG>ctT p.L153L COAD 1 151237951 151237951 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:151237951C>T c.520C>T c.(520-522)Cct>Tct p.P174S COADREAD 1 151234711 151234711 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:151234711A>G c.101A>G c.(100-102)aAc>aGc p.N34S COADREAD 1 151236495 151236495 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:151236495C>T c.273C>T c.(271-273)cgC>cgT p.R91R COADREAD 1 151237890 151237890 + Silent SNP G G T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:151237890G>T c.459G>T c.(457-459)ctG>ctT p.L153L COADREAD 1 151237951 151237951 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:151237951C>T c.520C>T c.(520-522)Cct>Tct p.P174S ESCA 1 151236431 151236431 + Missense_Mutation SNP G G A TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr1:151236431G>A c.209G>A c.(208-210)cGt>cAt p.R70H GBM 1 151237667 151237667 + Missense_Mutation SNP A A G TCGA-28-5216-01A-01D-1486-08 TCGA-28-5216-10A-01D-1486-08 g.chr1:151237667A>G c.395A>G c.(394-396)aAg>aGg p.K132R GBMLGG 1 151237660 151237660 + Missense_Mutation SNP C C T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 g.chr1:151237660C>T c.388C>T c.(388-390)Cgc>Tgc p.R130C GBMLGG 1 151237667 151237667 + Missense_Mutation SNP A A G TCGA-28-5216-01A-01D-1486-08 TCGA-28-5216-10A-01D-1486-08 g.chr1:151237667A>G c.395A>G c.(394-396)aAg>aGg p.K132R HNSC 1 151234661 151234661 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr1:151234661G>A c.51G>A c.(49-51)cgG>cgA p.R17R HNSC 1 151237331 151237331 + Silent SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr1:151237331C>T c.306C>T c.(304-306)ggC>ggT p.G102G HNSC 1 151237665 151237665 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr1:151237665C>G c.393C>G c.(391-393)ctC>ctG p.L131L HNSC 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr1:151238835G>A c.815G>A c.(814-816)cGc>cAc p.R272H HNSC 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr1:151238835G>A c.815G>A c.(814-816)cGc>cAc p.R272H HNSC 1 151239649 151239649 + Splice_Site SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr1:151239649G>A c.964G>A c.(964-966)Gag>Aag p.E322K KIPAN 1 151236485 151236485 + Missense_Mutation SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr1:151236485C>T c.263C>T c.(262-264)aCg>aTg p.T88M KIPAN 1 151238063 151238063 + Missense_Mutation SNP G G T TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr1:151238063G>T c.632G>T c.(631-633)aGt>aTt p.S211I KIRC 1 151236485 151236485 + Missense_Mutation SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr1:151236485C>T c.263C>T c.(262-264)aCg>aTg p.T88M KIRP 1 151238063 151238063 + Missense_Mutation SNP G G T TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr1:151238063G>T c.632G>T c.(631-633)aGt>aTt p.S211I LGG 1 151237660 151237660 + Missense_Mutation SNP C C T TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 g.chr1:151237660C>T c.388C>T c.(388-390)Cgc>Tgc p.R130C LIHC 1 151239737 151239737 + Missense_Mutation SNP C C G TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr1:151239737C>G c.1052C>G c.(1051-1053)gCc>gGc p.A351G LUAD 1 151234661 151234661 + Silent SNP G G C TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr1:151234661G>C c.51G>C c.(49-51)cgG>cgC p.R17R LUAD 1 151236486 151236486 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:151236486G>T c.264G>T c.(262-264)acG>acT p.T88T LUAD 1 151237694 151237694 + Missense_Mutation SNP T T G TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr1:151237694T>G c.422T>G c.(421-423)aTc>aGc p.I141S LUAD 1 151237896 151237896 + Silent SNP C C T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr1:151237896C>T c.465C>T c.(463-465)gcC>gcT p.A155A LUAD 1 151237983 151237983 + Silent SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:151237983C>T c.552C>T c.(550-552)atC>atT p.I184I LUAD 1 151238026 151238026 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:151238026C>G c.595C>G c.(595-597)Ctt>Gtt p.L199V LUAD 1 151239025 151239025 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:151239025G>T c.925G>T c.(925-927)Gat>Tat p.D309Y LUSC 1 151237918 151237918 + Missense_Mutation SNP A A G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr1:151237918A>G c.487A>G c.(487-489)Aaa>Gaa p.K163E LUSC 1 151239682 151239682 + Nonsense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:151239682G>T c.997G>T c.(997-999)Gag>Tag p.E333* PAAD 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr1:151238835G>A c.815G>A c.(814-816)cGc>cAc p.R272H PAAD 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 g.chr1:151238835G>A c.815G>A c.(814-816)cGc>cAc p.R272H PRAD 1 151234660 151234660 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr1:151234660G>A c.50G>A c.(49-51)cGg>cAg p.R17Q SKCM 1 151237936 151237936 + Missense_Mutation SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr1:151237936C>T c.505C>T c.(505-507)Cat>Tat p.H169Y SKCM 1 151238481 151238481 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr1:151238481C>T c.656C>T c.(655-657)gCc>gTc p.A219V SKCM 1 151238482 151238482 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr1:151238482C>T c.657C>T c.(655-657)gcC>gcT p.A219A SKCM 1 151238796 151238796 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-11A-11D-A23B-08 g.chr1:151238796C>T c.776C>T c.(775-777)gCc>gTc p.A259V SKCM 1 151239724 151239724 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr1:151239724C>T c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S

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 1 151238867 151238867 single base substitution G C 3_prime_UTR_variant BLCA-US 1 151238867 151238867 single base substitution G C downstream_gene_variant BLCA-US 1 151238867 151238867 single base substitution G C exon_variant BLCA-US 1 151238867 151238867 single base substitution G C missense_variant E283Q 847G>C BLCA-US 1 151238867 151238867 single base substitution G C missense_variant E286Q 856G>C BLCA-US 1 151238867 151238867 single base substitution G C missense_variant E98Q 292G>C BLCA-US 1 151238867 151238867 single base substitution G C upstream_gene_variant BRCA-EU 1 151222974 151222974 single base substitution A G upstream_gene_variant BRCA-EU 1 151223245 151223245 single base substitution G T upstream_gene_variant BRCA-EU 1 151223446 151223446 insertion of <=200bp - G upstream_gene_variant BRCA-EU 1 151223471 151223471 single base substitution C A upstream_gene_variant BRCA-EU 1 151223687 151223687 single base substitution G C upstream_gene_variant BRCA-EU 1 151224406 151224406 single base substitution C A upstream_gene_variant BRCA-EU 1 151224874 151224874 single base substitution A C upstream_gene_variant BRCA-EU 1 151225603 151225603 single base substitution G A upstream_gene_variant BRCA-EU 1 151225942 151225942 single base substitution G T upstream_gene_variant BRCA-EU 1 151226600 151226600 single base substitution C G upstream_gene_variant BRCA-EU 1 151226698 151226698 single base substitution C T upstream_gene_variant BRCA-EU 1 151226793 151226793 single base substitution G C upstream_gene_variant BRCA-EU 1 151227444 151227444 single base substitution G C intron_variant BRCA-EU 1 151227444 151227444 single base substitution G C upstream_gene_variant BRCA-EU 1 151227889 151227889 single base substitution G C intron_variant BRCA-EU 1 151227889 151227889 single base substitution G C upstream_gene_variant BRCA-EU 1 151228212 151228212 deletion of <=200bp T - intron_variant BRCA-EU 1 151228212 151228212 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 151228267 151228267 single base substitution C G intron_variant BRCA-EU 1 151228267 151228267 single base substitution C G upstream_gene_variant BRCA-EU 1 151228348 151228348 single base substitution C T intron_variant BRCA-EU 1 151228348 151228348 single base substitution C T upstream_gene_variant BRCA-EU 1 151229029 151229029 single base substitution C T intron_variant BRCA-EU 1 151229029 151229029 single base substitution C T upstream_gene_variant BRCA-EU 1 151229097 151229097 single base substitution G A intron_variant BRCA-EU 1 151229097 151229097 single base substitution G A upstream_gene_variant BRCA-EU 1 151229964 151229964 single base substitution T C intron_variant BRCA-EU 1 151229964 151229964 single base substitution T C upstream_gene_variant BRCA-EU 1 151232147 151232147 single base substitution A G intron_variant BRCA-EU 1 151232147 151232147 single base substitution A G upstream_gene_variant BRCA-EU 1 151232184 151232184 single base substitution G T intron_variant BRCA-EU 1 151232184 151232184 single base substitution G T upstream_gene_variant BRCA-EU 1 151232218 151232218 deletion of <=200bp A - intron_variant BRCA-EU 1 151232218 151232218 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 151232802 151232802 single base substitution A G intron_variant BRCA-EU 1 151232802 151232802 single base substitution A G upstream_gene_variant BRCA-EU 1 151233142 151233142 single base substitution G T intron_variant BRCA-EU 1 151233142 151233142 single base substitution G T upstream_gene_variant BRCA-EU 1 151235510 151235510 single base substitution G C downstream_gene_variant BRCA-EU 1 151235510 151235510 single base substitution G C intron_variant BRCA-EU 1 151235510 151235510 single base substitution G C upstream_gene_variant BRCA-EU 1 151236405 151236405 single base substitution G A downstream_gene_variant BRCA-EU 1 151236405 151236405 single base substitution G A exon_variant BRCA-EU 1 151236405 151236405 single base substitution G A synonymous_variant L46L 138G>A BRCA-EU 1 151236405 151236405 single base substitution G A synonymous_variant L61L 183G>A BRCA-EU 1 151236405 151236405 single base substitution G A upstream_gene_variant BRCA-EU 1 151236421 151236421 single base substitution G C downstream_gene_variant BRCA-EU 1 151236421 151236421 single base substitution G C exon_variant BRCA-EU 1 151236421 151236421 single base substitution G C missense_variant D52H 154G>C BRCA-EU 1 151236421 151236421 single base substitution G C missense_variant D67H 199G>C BRCA-EU 1 151236421 151236421 single base substitution G C upstream_gene_variant BRCA-EU 1 151237660 151237660 single base substitution C T downstream_gene_variant BRCA-EU 1 151237660 151237660 single base substitution C T exon_variant BRCA-EU 1 151237660 151237660 single base substitution C T missense_variant R115C 343C>T BRCA-EU 1 151237660 151237660 single base substitution C T missense_variant R130C 388C>T BRCA-EU 1 151237660 151237660 single base substitution C T missense_variant R17C 49C>T BRCA-EU 1 151237660 151237660 single base substitution C T upstream_gene_variant BRCA-EU 1 151237761 151237761 single base substitution A T downstream_gene_variant BRCA-EU 1 151237761 151237761 single base substitution A T exon_variant BRCA-EU 1 151237761 151237761 single base substitution A T intron_variant BRCA-EU 1 151237761 151237761 single base substitution A T upstream_gene_variant BRCA-EU 1 151238071 151238071 single base substitution C T downstream_gene_variant BRCA-EU 1 151238071 151238071 single base substitution C T exon_variant BRCA-EU 1 151238071 151238071 single base substitution C T intron_variant BRCA-EU 1 151238071 151238071 single base substitution C T missense_variant P199S 595C>T BRCA-EU 1 151238071 151238071 single base substitution C T missense_variant P214S 640C>T BRCA-EU 1 151238071 151238071 single base substitution C T upstream_gene_variant BRCA-EU 1 151238822 151238822 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 151238822 151238822 single base substitution C G downstream_gene_variant BRCA-EU 1 151238822 151238822 single base substitution C G exon_variant BRCA-EU 1 151238822 151238822 single base substitution C G missense_variant Q268E 802C>G BRCA-EU 1 151238822 151238822 single base substitution C G missense_variant Q271E 811C>G BRCA-EU 1 151238822 151238822 single base substitution C G missense_variant Q83E 247C>G BRCA-EU 1 151238822 151238822 single base substitution C G upstream_gene_variant BRCA-EU 1 151238933 151238933 single base substitution T C downstream_gene_variant BRCA-EU 1 151238933 151238933 single base substitution T C intron_variant BRCA-EU 1 151238933 151238933 single base substitution T C upstream_gene_variant BRCA-EU 1 151239141 151239141 single base substitution C G downstream_gene_variant BRCA-EU 1 151239141 151239141 single base substitution C G exon_variant BRCA-EU 1 151239141 151239141 single base substitution C G intron_variant BRCA-EU 1 151239169 151239169 single base substitution G C downstream_gene_variant BRCA-EU 1 151239169 151239169 single base substitution G C exon_variant BRCA-EU 1 151239169 151239169 single base substitution G C intron_variant BRCA-EU 1 151239434 151239434 single base substitution C T downstream_gene_variant BRCA-EU 1 151239434 151239434 single base substitution C T intron_variant BRCA-EU 1 151239434 151239434 single base substitution C T missense_variant L21F 61C>T BRCA-EU 1 151240144 151240144 single base substitution C G downstream_gene_variant BRCA-EU 1 151240172 151240172 single base substitution C T downstream_gene_variant BRCA-EU 1 151241030 151241030 single base substitution A T downstream_gene_variant BRCA-EU 1 151241032 151241032 single base substitution T A downstream_gene_variant BRCA-EU 1 151241377 151241377 single base substitution C T downstream_gene_variant BRCA-EU 1 151241744 151241744 single base substitution G A downstream_gene_variant BRCA-EU 1 151242043 151242043 single base substitution G A downstream_gene_variant BRCA-EU 1 151243129 151243129 single base substitution C T downstream_gene_variant BRCA-EU 1 151243218 151243218 single base substitution C T downstream_gene_variant BRCA-EU 1 151244238 151244238 single base substitution C A downstream_gene_variant BRCA-FR 1 151224855 151224855 single base substitution C A upstream_gene_variant BRCA-FR 1 151226767 151226767 single base substitution G T upstream_gene_variant BRCA-FR 1 151226793 151226793 single base substitution G C upstream_gene_variant BRCA-FR 1 151238071 151238071 single base substitution C T downstream_gene_variant BRCA-FR 1 151238071 151238071 single base substitution C T exon_variant BRCA-FR 1 151238071 151238071 single base substitution C T intron_variant BRCA-FR 1 151238071 151238071 single base substitution C T missense_variant P199S 595C>T BRCA-FR 1 151238071 151238071 single base substitution C T missense_variant P214S 640C>T BRCA-FR 1 151238071 151238071 single base substitution C T upstream_gene_variant BRCA-FR 1 151239141 151239141 single base substitution C G downstream_gene_variant BRCA-FR 1 151239141 151239141 single base substitution C G exon_variant BRCA-FR 1 151239141 151239141 single base substitution C G intron_variant BRCA-FR 1 151239434 151239434 single base substitution C T downstream_gene_variant BRCA-FR 1 151239434 151239434 single base substitution C T intron_variant BRCA-FR 1 151239434 151239434 single base substitution C T missense_variant L21F 61C>T BRCA-FR 1 151240223 151240223 single base substitution G C downstream_gene_variant BRCA-FR 1 151241030 151241030 single base substitution A T downstream_gene_variant BRCA-FR 1 151244276 151244276 single base substitution G A downstream_gene_variant BRCA-UK 1 151225942 151225942 single base substitution G T upstream_gene_variant BRCA-UK 1 151228348 151228348 single base substitution C T intron_variant BRCA-UK 1 151228348 151228348 single base substitution C T upstream_gene_variant BRCA-UK 1 151236448 151236448 single base substitution C A downstream_gene_variant BRCA-UK 1 151236448 151236448 single base substitution C A exon_variant BRCA-UK 1 151236448 151236448 single base substitution C A missense_variant H61N 181C>A BRCA-UK 1 151236448 151236448 single base substitution C A missense_variant H76N 226C>A BRCA-UK 1 151236448 151236448 single base substitution C A upstream_gene_variant BRCA-US 1 151227268 151227268 single base substitution G C exon_variant BRCA-US 1 151227268 151227268 single base substitution G C missense_variant E4Q 10G>C BRCA-US 1 151227268 151227268 single base substitution G C upstream_gene_variant BRCA-US 1 151239035 151239035 single base substitution C G 3_prime_UTR_variant BRCA-US 1 151239035 151239035 single base substitution C G downstream_gene_variant BRCA-US 1 151239035 151239035 single base substitution C G exon_variant BRCA-US 1 151239035 151239035 single base substitution C G stop_gained S127* 380C>G BRCA-US 1 151239035 151239035 single base substitution C G stop_gained S312* 935C>G BRCA-US 1 151239035 151239035 single base substitution C G stop_gained S315* 944C>G BRCA-US 1 151239035 151239035 single base substitution C G stop_gained S5* 14C>G BRCA-US 1 151239784 151239784 single base substitution G A 3_prime_UTR_variant BRCA-US 1 151239784 151239784 single base substitution G A downstream_gene_variant BRCA-US 1 151239784 151239784 single base substitution G A missense_variant G182S 544G>A BRCA-US 1 151239784 151239784 single base substitution G A missense_variant G367S 1099G>A BRCA-US 1 151239784 151239784 single base substitution G A missense_variant G370S 1108G>A BRCA-US 1 151239784 151239784 single base substitution G A missense_variant G73S 217G>A BTCA-JP 1 151238702 151238702 single base substitution G C downstream_gene_variant BTCA-JP 1 151238702 151238702 single base substitution G C exon_variant BTCA-JP 1 151238702 151238702 single base substitution G C intron_variant BTCA-JP 1 151238702 151238702 single base substitution G C upstream_gene_variant CESC-US 1 151234722 151234722 single base substitution C T exon_variant CESC-US 1 151234722 151234722 single base substitution C T missense_variant H23Y 67C>T CESC-US 1 151234722 151234722 single base substitution C T missense_variant H38Y 112C>T CESC-US 1 151234722 151234722 single base substitution C T upstream_gene_variant CESC-US 1 151236293 151236293 single base substitution G C downstream_gene_variant CESC-US 1 151236293 151236293 single base substitution G C exon_variant CESC-US 1 151236293 151236293 single base substitution G C intron_variant CESC-US 1 151236293 151236293 single base substitution G C upstream_gene_variant CLLE-ES 1 151243027 151243027 single base substitution C T downstream_gene_variant COAD-US 1 151234711 151234711 single base substitution A G exon_variant COAD-US 1 151234711 151234711 single base substitution A G missense_variant N19S 56A>G COAD-US 1 151234711 151234711 single base substitution A G missense_variant N34S 101A>G COAD-US 1 151234711 151234711 single base substitution A G upstream_gene_variant COAD-US 1 151236495 151236495 single base substitution C T downstream_gene_variant COAD-US 1 151236495 151236495 single base substitution C T exon_variant COAD-US 1 151236495 151236495 single base substitution C T synonymous_variant R76R 228C>T COAD-US 1 151236495 151236495 single base substitution C T synonymous_variant R91R 273C>T COAD-US 1 151236495 151236495 single base substitution C T upstream_gene_variant COAD-US 1 151237951 151237951 single base substitution C T downstream_gene_variant COAD-US 1 151237951 151237951 single base substitution C T exon_variant COAD-US 1 151237951 151237951 single base substitution C T intron_variant COAD-US 1 151237951 151237951 single base substitution C T missense_variant P159S 475C>T COAD-US 1 151237951 151237951 single base substitution C T missense_variant P174S 520C>T COAD-US 1 151237951 151237951 single base substitution C T upstream_gene_variant COCA-CN 1 151227101 151227101 single base substitution T G upstream_gene_variant COCA-CN 1 151237176 151237176 single base substitution C A downstream_gene_variant COCA-CN 1 151237176 151237176 single base substitution C A intron_variant COCA-CN 1 151237176 151237176 single base substitution C A upstream_gene_variant COCA-CN 1 151237590 151237590 single base substitution C T downstream_gene_variant COCA-CN 1 151237590 151237590 single base substitution C T exon_variant COCA-CN 1 151237590 151237590 single base substitution C T intron_variant COCA-CN 1 151237590 151237590 single base substitution C T upstream_gene_variant COCA-CN 1 151238222 151238222 single base substitution G A downstream_gene_variant COCA-CN 1 151238222 151238222 single base substitution G A intron_variant COCA-CN 1 151238222 151238222 single base substitution G A upstream_gene_variant COCA-CN 1 151239281 151239281 single base substitution G C downstream_gene_variant COCA-CN 1 151239281 151239281 single base substitution G C intron_variant EOPC-DE 1 151241181 151241181 single base substitution C A downstream_gene_variant EOPC-DE 1 151243634 151243634 single base substitution T C downstream_gene_variant ESAD-UK 1 151225038 151225038 single base substitution G A upstream_gene_variant ESAD-UK 1 151225064 151225064 single base substitution G A upstream_gene_variant ESAD-UK 1 151225603 151225603 single base substitution G A upstream_gene_variant ESAD-UK 1 151227505 151227505 single base substitution T G intron_variant ESAD-UK 1 151227505 151227505 single base substitution T G upstream_gene_variant ESAD-UK 1 151228120 151228122 deletion of <=200bp TTC - intron_variant ESAD-UK 1 151228120 151228122 deletion of <=200bp TTC - upstream_gene_variant ESAD-UK 1 151230801 151230801 single base substitution G A intron_variant ESAD-UK 1 151230801 151230801 single base substitution G A upstream_gene_variant ESAD-UK 1 151232301 151232301 single base substitution C T intron_variant ESAD-UK 1 151232301 151232301 single base substitution C T upstream_gene_variant ESAD-UK 1 151237097 151237097 single base substitution A T downstream_gene_variant ESAD-UK 1 151237097 151237097 single base substitution A T intron_variant ESAD-UK 1 151237097 151237097 single base substitution A T upstream_gene_variant ESAD-UK 1 151239126 151239126 single base substitution G T downstream_gene_variant ESAD-UK 1 151239126 151239126 single base substitution G T exon_variant ESAD-UK 1 151239126 151239126 single base substitution G T intron_variant ESAD-UK 1 151240980 151240980 single base substitution C T downstream_gene_variant ESAD-UK 1 151241864 151241864 single base substitution C A downstream_gene_variant ESAD-UK 1 151242785 151242785 single base substitution C T downstream_gene_variant ESAD-UK 1 151243723 151243723 single base substitution G A downstream_gene_variant ESAD-UK 1 151244877 151244877 single base substitution G A downstream_gene_variant GBM-US 1 151237667 151237667 single base substitution A G downstream_gene_variant GBM-US 1 151237667 151237667 single base substitution A G exon_variant GBM-US 1 151237667 151237667 single base substitution A G missense_variant K117R 350A>G GBM-US 1 151237667 151237667 single base substitution A G missense_variant K132R 395A>G GBM-US 1 151237667 151237667 single base substitution A G missense_variant K19R 56A>G GBM-US 1 151237667 151237667 single base substitution A G upstream_gene_variant KIRC-US 1 151236485 151236485 single base substitution C T downstream_gene_variant KIRC-US 1 151236485 151236485 single base substitution C T exon_variant KIRC-US 1 151236485 151236485 single base substitution C T missense_variant T73M 218C>T KIRC-US 1 151236485 151236485 single base substitution C T missense_variant T88M 263C>T KIRC-US 1 151236485 151236485 single base substitution C T upstream_gene_variant LAML-KR 1 151229183 151229183 single base substitution G C intron_variant LAML-KR 1 151229183 151229183 single base substitution G C upstream_gene_variant LAML-KR 1 151237992 151237992 single base substitution G A downstream_gene_variant LAML-KR 1 151237992 151237992 single base substitution G A exon_variant LAML-KR 1 151237992 151237992 single base substitution G A intron_variant LAML-KR 1 151237992 151237992 single base substitution G A synonymous_variant P172P 516G>A LAML-KR 1 151237992 151237992 single base substitution G A synonymous_variant P187P 561G>A LAML-KR 1 151237992 151237992 single base substitution G A upstream_gene_variant LGG-US 1 151237660 151237660 single base substitution C T downstream_gene_variant LGG-US 1 151237660 151237660 single base substitution C T exon_variant LGG-US 1 151237660 151237660 single base substitution C T missense_variant R115C 343C>T LGG-US 1 151237660 151237660 single base substitution C T missense_variant R130C 388C>T LGG-US 1 151237660 151237660 single base substitution C T missense_variant R17C 49C>T LGG-US 1 151237660 151237660 single base substitution C T upstream_gene_variant LICA-CN 1 151227271 151227271 single base substitution A G exon_variant LICA-CN 1 151227271 151227271 single base substitution A G missense_variant S5G 13A>G LICA-CN 1 151227271 151227271 single base substitution A G upstream_gene_variant LICA-CN 1 151238012 151238012 single base substitution G T downstream_gene_variant LICA-CN 1 151238012 151238012 single base substitution G T exon_variant LICA-CN 1 151238012 151238012 single base substitution G T intron_variant LICA-CN 1 151238012 151238012 single base substitution G T missense_variant G179V 536G>T LICA-CN 1 151238012 151238012 single base substitution G T missense_variant G194V 581G>T LICA-CN 1 151238012 151238012 single base substitution G T upstream_gene_variant LICA-CN 1 151238080 151238080 single base substitution G T downstream_gene_variant LICA-CN 1 151238080 151238080 single base substitution G T exon_variant LICA-CN 1 151238080 151238080 single base substitution G T intron_variant LICA-CN 1 151238080 151238080 single base substitution G T missense_variant A202S 604G>T LICA-CN 1 151238080 151238080 single base substitution G T missense_variant A217S 649G>T LICA-CN 1 151238080 151238080 single base substitution G T upstream_gene_variant LICA-CN 1 151238552 151238552 single base substitution G T downstream_gene_variant LICA-CN 1 151238552 151238552 single base substitution G T exon_variant LICA-CN 1 151238552 151238552 single base substitution G T missense_variant A243S 727G>T LICA-CN 1 151238552 151238552 single base substitution G T missense_variant A58S 172G>T LICA-CN 1 151238552 151238552 single base substitution G T upstream_gene_variant LICA-FR 1 151222582 151222582 single base substitution G A upstream_gene_variant LICA-FR 1 151236454 151236454 single base substitution G T downstream_gene_variant LICA-FR 1 151236454 151236454 single base substitution G T exon_variant LICA-FR 1 151236454 151236454 single base substitution G T missense_variant V63F 187G>T LICA-FR 1 151236454 151236454 single base substitution G T missense_variant V78F 232G>T LICA-FR 1 151236454 151236454 single base substitution G T upstream_gene_variant LICA-FR 1 151236817 151236817 deletion of <=200bp A - downstream_gene_variant LICA-FR 1 151236817 151236817 deletion of <=200bp A - intron_variant LICA-FR 1 151236817 151236817 deletion of <=200bp A - upstream_gene_variant LICA-FR 1 151237990 151237990 single base substitution C T downstream_gene_variant LICA-FR 1 151237990 151237990 single base substitution C T exon_variant LICA-FR 1 151237990 151237990 single base substitution C T intron_variant LICA-FR 1 151237990 151237990 single base substitution C T missense_variant P172S 514C>T LICA-FR 1 151237990 151237990 single base substitution C T missense_variant P187S 559C>T LICA-FR 1 151237990 151237990 single base substitution C T upstream_gene_variant LICA-FR 1 151238071 151238071 single base substitution C A downstream_gene_variant LICA-FR 1 151238071 151238071 single base substitution C A exon_variant LICA-FR 1 151238071 151238071 single base substitution C A intron_variant LICA-FR 1 151238071 151238071 single base substitution C A missense_variant P199T 595C>A LICA-FR 1 151238071 151238071 single base substitution C A missense_variant P214T 640C>A LICA-FR 1 151238071 151238071 single base substitution C A upstream_gene_variant LIHC-US 1 151237944 151237944 single base substitution G T downstream_gene_variant LIHC-US 1 151237944 151237944 single base substitution G T exon_variant LIHC-US 1 151237944 151237944 single base substitution G T intron_variant LIHC-US 1 151237944 151237944 single base substitution G T synonymous_variant V156V 468G>T LIHC-US 1 151237944 151237944 single base substitution G T synonymous_variant V171V 513G>T LIHC-US 1 151237944 151237944 single base substitution G T upstream_gene_variant LINC-JP 1 151225007 151225007 single base substitution C T upstream_gene_variant LINC-JP 1 151228987 151228987 single base substitution T G intron_variant LINC-JP 1 151228987 151228987 single base substitution T G upstream_gene_variant LINC-JP 1 151234563 151234563 single base substitution C T intron_variant LINC-JP 1 151234563 151234563 single base substitution C T upstream_gene_variant LINC-JP 1 151238958 151238958 single base substitution A T downstream_gene_variant LINC-JP 1 151238958 151238958 single base substitution A T intron_variant LINC-JP 1 151238958 151238958 single base substitution A T upstream_gene_variant LINC-JP 1 151243250 151243250 single base substitution A T downstream_gene_variant LIRI-JP 1 151224077 151224077 single base substitution T C upstream_gene_variant LIRI-JP 1 151224180 151224180 single base substitution T C upstream_gene_variant LIRI-JP 1 151224409 151224415 deletion of <=200bp GCTATAT - upstream_gene_variant LIRI-JP 1 151224464 151224464 single base substitution C A upstream_gene_variant LIRI-JP 1 151227833 151227833 single base substitution C T intron_variant LIRI-JP 1 151227833 151227833 single base substitution C T upstream_gene_variant LIRI-JP 1 151230337 151230337 single base substitution G A intron_variant LIRI-JP 1 151230337 151230337 single base substitution G A upstream_gene_variant LIRI-JP 1 151233986 151233986 single base substitution A G intron_variant LIRI-JP 1 151233986 151233986 single base substitution A G upstream_gene_variant LIRI-JP 1 151238162 151238188 deletion of <=200bp TATCAGGCTGGATAGTCCTAGACACTA - downstream_gene_variant LIRI-JP 1 151238162 151238188 deletion of <=200bp TATCAGGCTGGATAGTCCTAGACACTA - intron_variant LIRI-JP 1 151238162 151238188 deletion of <=200bp TATCAGGCTGGATAGTCCTAGACACTA - upstream_gene_variant LIRI-JP 1 151239791 151239791 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 151239791 151239791 single base substitution A G downstream_gene_variant LIRI-JP 1 151239791 151239791 single base substitution A G missense_variant K184R 551A>G LIRI-JP 1 151239791 151239791 single base substitution A G missense_variant K369R 1106A>G LIRI-JP 1 151239791 151239791 single base substitution A G missense_variant K372R 1115A>G LIRI-JP 1 151239791 151239791 single base substitution A G missense_variant K75R 224A>G LIRI-JP 1 151239872 151239872 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 151239872 151239872 single base substitution G A downstream_gene_variant LIRI-JP 1 151240361 151240361 single base substitution A G downstream_gene_variant LIRI-JP 1 151240816 151240816 single base substitution T C downstream_gene_variant LUSC-KR 1 151224773 151224773 single base substitution A G upstream_gene_variant LUSC-KR 1 151228067 151228067 single base substitution G T intron_variant LUSC-KR 1 151228067 151228067 single base substitution G T upstream_gene_variant LUSC-KR 1 151231941 151231941 single base substitution C T intron_variant LUSC-KR 1 151231941 151231941 single base substitution C T upstream_gene_variant LUSC-KR 1 151234109 151234109 single base substitution C G intron_variant LUSC-KR 1 151234109 151234109 single base substitution C G upstream_gene_variant LUSC-KR 1 151234978 151234978 single base substitution A G exon_variant LUSC-KR 1 151234978 151234978 single base substitution A G intron_variant LUSC-KR 1 151234978 151234978 single base substitution A G upstream_gene_variant LUSC-KR 1 151239143 151239143 single base substitution A G downstream_gene_variant LUSC-KR 1 151239143 151239143 single base substitution A G exon_variant LUSC-KR 1 151239143 151239143 single base substitution A G intron_variant LUSC-US 1 151237918 151237918 single base substitution A G downstream_gene_variant LUSC-US 1 151237918 151237918 single base substitution A G exon_variant LUSC-US 1 151237918 151237918 single base substitution A G intron_variant LUSC-US 1 151237918 151237918 single base substitution A G missense_variant K148E 442A>G LUSC-US 1 151237918 151237918 single base substitution A G missense_variant K163E 487A>G LUSC-US 1 151237918 151237918 single base substitution A G upstream_gene_variant LUSC-US 1 151239682 151239682 single base substitution G T 3_prime_UTR_variant LUSC-US 1 151239682 151239682 single base substitution G T downstream_gene_variant LUSC-US 1 151239682 151239682 single base substitution G T exon_variant LUSC-US 1 151239682 151239682 single base substitution G T stop_gained E148* 442G>T LUSC-US 1 151239682 151239682 single base substitution G T stop_gained E333* 997G>T LUSC-US 1 151239682 151239682 single base substitution G T stop_gained E336* 1006G>T LUSC-US 1 151239682 151239682 single base substitution G T stop_gained E39* 115G>T MALY-DE 1 151223962 151223962 single base substitution T C upstream_gene_variant MALY-DE 1 151224007 151224007 single base substitution T C upstream_gene_variant MALY-DE 1 151224355 151224355 single base substitution C T upstream_gene_variant MALY-DE 1 151224564 151224564 single base substitution A T upstream_gene_variant MALY-DE 1 151227293 151227293 single base substitution C T intron_variant MALY-DE 1 151227293 151227293 single base substitution C T upstream_gene_variant MALY-DE 1 151242571 151242571 single base substitution G A downstream_gene_variant MELA-AU 1 151222295 151222295 single base substitution C G upstream_gene_variant MELA-AU 1 151222442 151222442 single base substitution T C upstream_gene_variant MELA-AU 1 151222645 151222645 single base substitution G A upstream_gene_variant MELA-AU 1 151222655 151222655 single base substitution C T upstream_gene_variant MELA-AU 1 151223418 151223418 single base substitution C T upstream_gene_variant MELA-AU 1 151223695 151223695 single base substitution C T upstream_gene_variant MELA-AU 1 151224235 151224235 single base substitution A T upstream_gene_variant MELA-AU 1 151224371 151224371 single base substitution C T upstream_gene_variant MELA-AU 1 151224372 151224372 single base substitution C T upstream_gene_variant MELA-AU 1 151224686 151224686 single base substitution C T upstream_gene_variant MELA-AU 1 151224722 151224722 single base substitution C T upstream_gene_variant MELA-AU 1 151225635 151225635 single base substitution T A upstream_gene_variant MELA-AU 1 151225947 151225947 single base substitution G T upstream_gene_variant MELA-AU 1 151226184 151226184 single base substitution T C upstream_gene_variant MELA-AU 1 151226378 151226378 single base substitution G A upstream_gene_variant MELA-AU 1 151226644 151226644 single base substitution C T upstream_gene_variant MELA-AU 1 151227111 151227111 single base substitution C T upstream_gene_variant MELA-AU 1 151227188 151227188 single base substitution C T 5_prime_UTR_variant MELA-AU 1 151227188 151227188 single base substitution C T upstream_gene_variant MELA-AU 1 151227251 151227251 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 151227251 151227251 single base substitution G A exon_variant MELA-AU 1 151227251 151227251 single base substitution G A upstream_gene_variant MELA-AU 1 151227532 151227532 single base substitution C T intron_variant MELA-AU 1 151227532 151227532 single base substitution C T upstream_gene_variant MELA-AU 1 151227934 151227934 single base substitution C T intron_variant MELA-AU 1 151227934 151227934 single base substitution C T upstream_gene_variant MELA-AU 1 151228384 151228384 single base substitution T C intron_variant MELA-AU 1 151228384 151228384 single base substitution T C upstream_gene_variant MELA-AU 1 151229532 151229532 single base substitution C T intron_variant MELA-AU 1 151229532 151229532 single base substitution C T upstream_gene_variant MELA-AU 1 151229757 151229757 single base substitution C T intron_variant MELA-AU 1 151229757 151229757 single base substitution C T upstream_gene_variant MELA-AU 1 151229885 151229885 single base substitution T A intron_variant MELA-AU 1 151229885 151229885 single base substitution T A upstream_gene_variant MELA-AU 1 151229984 151229984 single base substitution A T intron_variant MELA-AU 1 151229984 151229984 single base substitution A T upstream_gene_variant MELA-AU 1 151230467 151230467 single base substitution C T intron_variant MELA-AU 1 151230467 151230467 single base substitution C T upstream_gene_variant MELA-AU 1 151231195 151231195 single base substitution C T intron_variant MELA-AU 1 151231195 151231195 single base substitution C T upstream_gene_variant MELA-AU 1 151232193 151232193 single base substitution C T intron_variant MELA-AU 1 151232193 151232193 single base substitution C T upstream_gene_variant MELA-AU 1 151232790 151232790 single base substitution A G intron_variant MELA-AU 1 151232790 151232790 single base substitution A G upstream_gene_variant MELA-AU 1 151232902 151232902 single base substitution T C intron_variant MELA-AU 1 151232902 151232902 single base substitution T C upstream_gene_variant MELA-AU 1 151233171 151233171 single base substitution C T intron_variant MELA-AU 1 151233171 151233171 single base substitution C T upstream_gene_variant MELA-AU 1 151233264 151233264 single base substitution C T intron_variant MELA-AU 1 151233264 151233264 single base substitution C T upstream_gene_variant MELA-AU 1 151233410 151233410 single base substitution C G intron_variant MELA-AU 1 151233410 151233410 single base substitution C G upstream_gene_variant MELA-AU 1 151233775 151233775 single base substitution C T intron_variant MELA-AU 1 151233775 151233775 single base substitution C T upstream_gene_variant MELA-AU 1 151234082 151234082 single base substitution C T intron_variant MELA-AU 1 151234082 151234082 single base substitution C T upstream_gene_variant MELA-AU 1 151234227 151234227 single base substitution C T intron_variant MELA-AU 1 151234227 151234227 single base substitution C T upstream_gene_variant MELA-AU 1 151235098 151235098 single base substitution C T exon_variant MELA-AU 1 151235098 151235098 single base substitution C T intron_variant MELA-AU 1 151235098 151235098 single base substitution C T upstream_gene_variant MELA-AU 1 151235284 151235284 single base substitution T C exon_variant MELA-AU 1 151235284 151235284 single base substitution T C intron_variant MELA-AU 1 151235284 151235284 single base substitution T C upstream_gene_variant MELA-AU 1 151235350 151235350 single base substitution G A exon_variant MELA-AU 1 151235350 151235350 single base substitution G A intron_variant MELA-AU 1 151235350 151235350 single base substitution G A upstream_gene_variant MELA-AU 1 151235863 151235863 single base substitution C A downstream_gene_variant MELA-AU 1 151235863 151235863 single base substitution C A intron_variant MELA-AU 1 151235863 151235863 single base substitution C A upstream_gene_variant MELA-AU 1 151235908 151235908 single base substitution C T downstream_gene_variant MELA-AU 1 151235908 151235908 single base substitution C T intron_variant MELA-AU 1 151235908 151235908 single base substitution C T upstream_gene_variant MELA-AU 1 151235965 151235965 single base substitution T C downstream_gene_variant MELA-AU 1 151235965 151235965 single base substitution T C intron_variant MELA-AU 1 151235965 151235965 single base substitution T C upstream_gene_variant MELA-AU 1 151236435 151236435 single base substitution C T downstream_gene_variant MELA-AU 1 151236435 151236435 single base substitution C T exon_variant MELA-AU 1 151236435 151236435 single base substitution C T synonymous_variant I56I 168C>T MELA-AU 1 151236435 151236435 single base substitution C T synonymous_variant I71I 213C>T MELA-AU 1 151236435 151236435 single base substitution C T upstream_gene_variant MELA-AU 1 151236538 151236538 single base substitution C T downstream_gene_variant MELA-AU 1 151236538 151236538 single base substitution C T intron_variant MELA-AU 1 151236538 151236538 single base substitution C T upstream_gene_variant MELA-AU 1 151236680 151236680 single base substitution C T downstream_gene_variant MELA-AU 1 151236680 151236680 single base substitution C T intron_variant MELA-AU 1 151236680 151236680 single base substitution C T upstream_gene_variant MELA-AU 1 151236864 151236864 single base substitution C T downstream_gene_variant MELA-AU 1 151236864 151236864 single base substitution C T intron_variant MELA-AU 1 151236864 151236864 single base substitution C T upstream_gene_variant MELA-AU 1 151237188 151237188 single base substitution T G downstream_gene_variant MELA-AU 1 151237188 151237188 single base substitution T G intron_variant MELA-AU 1 151237188 151237188 single base substitution T G upstream_gene_variant MELA-AU 1 151237767 151237767 single base substitution C T downstream_gene_variant MELA-AU 1 151237767 151237767 single base substitution C T exon_variant MELA-AU 1 151237767 151237767 single base substitution C T intron_variant MELA-AU 1 151237767 151237767 single base substitution C T upstream_gene_variant MELA-AU 1 151238023 151238023 single base substitution G C downstream_gene_variant MELA-AU 1 151238023 151238023 single base substitution G C exon_variant MELA-AU 1 151238023 151238023 single base substitution G C intron_variant MELA-AU 1 151238023 151238023 single base substitution G C missense_variant G183R 547G>C MELA-AU 1 151238023 151238023 single base substitution G C missense_variant G198R 592G>C MELA-AU 1 151238023 151238023 single base substitution G C upstream_gene_variant MELA-AU 1 151238162 151238162 single base substitution T C downstream_gene_variant MELA-AU 1 151238162 151238162 single base substitution T C intron_variant MELA-AU 1 151238162 151238162 single base substitution T C upstream_gene_variant MELA-AU 1 151238396 151238396 single base substitution C T downstream_gene_variant MELA-AU 1 151238396 151238396 single base substitution C T intron_variant MELA-AU 1 151238396 151238396 single base substitution C T upstream_gene_variant MELA-AU 1 151238589 151238589 single base substitution G A downstream_gene_variant MELA-AU 1 151238589 151238589 single base substitution G A exon_variant MELA-AU 1 151238589 151238589 single base substitution G A missense_variant G255D 764G>A MELA-AU 1 151238589 151238589 single base substitution G A splice_donor_variant MELA-AU 1 151238589 151238589 single base substitution G A upstream_gene_variant MELA-AU 1 151238990 151238990 single base substitution C T downstream_gene_variant MELA-AU 1 151238990 151238990 single base substitution C T intron_variant MELA-AU 1 151238990 151238990 single base substitution C T splice_region_variant MELA-AU 1 151238990 151238990 single base substitution C T upstream_gene_variant MELA-AU 1 151239099 151239099 single base substitution C T downstream_gene_variant MELA-AU 1 151239099 151239099 single base substitution C T exon_variant MELA-AU 1 151239099 151239099 single base substitution C T intron_variant MELA-AU 1 151239157 151239157 single base substitution C T downstream_gene_variant MELA-AU 1 151239157 151239157 single base substitution C T exon_variant MELA-AU 1 151239157 151239157 single base substitution C T intron_variant MELA-AU 1 151239504 151239504 single base substitution C T downstream_gene_variant MELA-AU 1 151239504 151239504 single base substitution C T intron_variant MELA-AU 1 151239845 151239845 single base substitution C T 3_prime_UTR_variant MELA-AU 1 151239845 151239845 single base substitution C T downstream_gene_variant MELA-AU 1 151240672 151240672 single base substitution G A downstream_gene_variant MELA-AU 1 151240832 151240832 single base substitution C T downstream_gene_variant MELA-AU 1 151241061 151241061 single base substitution C T downstream_gene_variant MELA-AU 1 151241274 151241274 single base substitution C T downstream_gene_variant MELA-AU 1 151241928 151241928 single base substitution C T downstream_gene_variant MELA-AU 1 151241980 151241980 single base substitution G A downstream_gene_variant MELA-AU 1 151242032 151242032 single base substitution C T downstream_gene_variant MELA-AU 1 151242370 151242370 single base substitution G T downstream_gene_variant MELA-AU 1 151242686 151242686 single base substitution C T downstream_gene_variant MELA-AU 1 151242723 151242723 single base substitution G A downstream_gene_variant MELA-AU 1 151243210 151243210 single base substitution A G downstream_gene_variant MELA-AU 1 151243927 151243927 single base substitution C T downstream_gene_variant MELA-AU 1 151244821 151244821 single base substitution G A downstream_gene_variant MELA-AU 1 151244827 151244827 single base substitution G A downstream_gene_variant ORCA-IN 1 151238595 151238595 single base substitution G C downstream_gene_variant ORCA-IN 1 151238595 151238595 single base substitution G C exon_variant ORCA-IN 1 151238595 151238595 single base substitution G C missense_variant R257T 770G>C ORCA-IN 1 151238595 151238595 single base substitution G C splice_region_variant ORCA-IN 1 151238595 151238595 single base substitution G C upstream_gene_variant OV-AU 1 151226908 151226908 single base substitution C G upstream_gene_variant OV-AU 1 151230263 151230263 single base substitution A G intron_variant OV-AU 1 151230263 151230263 single base substitution A G upstream_gene_variant OV-AU 1 151231557 151231557 single base substitution T C 5_prime_UTR_variant OV-AU 1 151231557 151231557 single base substitution T C intron_variant OV-AU 1 151231557 151231557 single base substitution T C upstream_gene_variant OV-AU 1 151232949 151232949 single base substitution T G intron_variant OV-AU 1 151232949 151232949 single base substitution T G upstream_gene_variant OV-AU 1 151240469 151240469 single base substitution G A downstream_gene_variant OV-AU 1 151241754 151241754 single base substitution G C downstream_gene_variant OV-AU 1 151243848 151243848 single base substitution C G downstream_gene_variant PACA-AU 1 151223289 151223289 single base substitution A C upstream_gene_variant PACA-AU 1 151225259 151225259 single base substitution G A upstream_gene_variant PACA-AU 1 151228681 151228681 single base substitution G A intron_variant PACA-AU 1 151228681 151228681 single base substitution G A upstream_gene_variant PACA-AU 1 151230035 151230035 single base substitution A T intron_variant PACA-AU 1 151230035 151230035 single base substitution A T upstream_gene_variant PACA-AU 1 151230048 151230048 single base substitution G T intron_variant PACA-AU 1 151230048 151230048 single base substitution G T upstream_gene_variant PACA-AU 1 151236086 151236086 single base substitution C T downstream_gene_variant PACA-AU 1 151236086 151236086 single base substitution C T intron_variant PACA-AU 1 151236086 151236086 single base substitution C T upstream_gene_variant PACA-AU 1 151237098 151237098 single base substitution A G downstream_gene_variant PACA-AU 1 151237098 151237098 single base substitution A G intron_variant PACA-AU 1 151237098 151237098 single base substitution A G upstream_gene_variant PACA-AU 1 151237166 151237166 single base substitution G A downstream_gene_variant PACA-AU 1 151237166 151237166 single base substitution G A intron_variant PACA-AU 1 151237166 151237166 single base substitution G A upstream_gene_variant PACA-AU 1 151237581 151237581 single base substitution G A downstream_gene_variant PACA-AU 1 151237581 151237581 single base substitution G A exon_variant PACA-AU 1 151237581 151237581 single base substitution G A intron_variant PACA-AU 1 151237581 151237581 single base substitution G A upstream_gene_variant PACA-AU 1 151240650 151240650 single base substitution G A downstream_gene_variant PACA-AU 1 151241790 151241790 single base substitution C T downstream_gene_variant PACA-CA 1 151230724 151230724 single base substitution G A intron_variant PACA-CA 1 151230724 151230724 single base substitution G A upstream_gene_variant PACA-CA 1 151231646 151231646 single base substitution G A 5_prime_UTR_variant PACA-CA 1 151231646 151231646 single base substitution G A intron_variant PACA-CA 1 151231646 151231646 single base substitution G A upstream_gene_variant PACA-CA 1 151231963 151231963 single base substitution C A intron_variant PACA-CA 1 151231963 151231963 single base substitution C A upstream_gene_variant PACA-CA 1 151232128 151232128 single base substitution G A intron_variant PACA-CA 1 151232128 151232128 single base substitution G A upstream_gene_variant PACA-CA 1 151236886 151236886 single base substitution C T downstream_gene_variant PACA-CA 1 151236886 151236886 single base substitution C T intron_variant PACA-CA 1 151236886 151236886 single base substitution C T upstream_gene_variant PACA-CA 1 151241179 151241179 single base substitution C T downstream_gene_variant PACA-CA 1 151243563 151243563 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 151244778 151244778 single base substitution G A downstream_gene_variant PBCA-DE 1 151227513 151227513 single base substitution C G intron_variant PBCA-DE 1 151227513 151227513 single base substitution C G upstream_gene_variant PBCA-DE 1 151228996 151228996 deletion of <=200bp C - intron_variant PBCA-DE 1 151228996 151228996 deletion of <=200bp C - upstream_gene_variant PRAD-CA 1 151232228 151232228 single base substitution G T intron_variant PRAD-CA 1 151232228 151232228 single base substitution G T upstream_gene_variant PRAD-CA 1 151238569 151238569 single base substitution T A downstream_gene_variant PRAD-CA 1 151238569 151238569 single base substitution T A exon_variant PRAD-CA 1 151238569 151238569 single base substitution T A synonymous_variant I248I 744T>A PRAD-CA 1 151238569 151238569 single base substitution T A synonymous_variant I63I 189T>A PRAD-CA 1 151238569 151238569 single base substitution T A upstream_gene_variant PRAD-UK 1 151238900 151238900 single base substitution T G 3_prime_UTR_variant PRAD-UK 1 151238900 151238900 single base substitution T G downstream_gene_variant PRAD-UK 1 151238900 151238900 single base substitution T G exon_variant PRAD-UK 1 151238900 151238900 single base substitution T G missense_variant S109A 325T>G PRAD-UK 1 151238900 151238900 single base substitution T G missense_variant S294A 880T>G PRAD-UK 1 151238900 151238900 single base substitution T G missense_variant S297A 889T>G PRAD-UK 1 151238900 151238900 single base substitution T G upstream_gene_variant PRAD-UK 1 151243167 151243167 single base substitution C T downstream_gene_variant PRAD-US 1 151234660 151234660 single base substitution G A exon_variant PRAD-US 1 151234660 151234660 single base substitution G A missense_variant R17Q 50G>A PRAD-US 1 151234660 151234660 single base substitution G A missense_variant R2Q 5G>A PRAD-US 1 151234660 151234660 single base substitution G A upstream_gene_variant RECA-EU 1 151230929 151230929 single base substitution T G intron_variant RECA-EU 1 151230929 151230929 single base substitution T G upstream_gene_variant RECA-EU 1 151232681 151232681 single base substitution A C intron_variant RECA-EU 1 151232681 151232681 single base substitution A C upstream_gene_variant RECA-EU 1 151239995 151239995 single base substitution G A downstream_gene_variant RECA-EU 1 151240817 151240817 single base substitution G A downstream_gene_variant SKCA-BR 1 151224193 151224193 single base substitution C T upstream_gene_variant SKCA-BR 1 151228830 151228836 deletion of <=200bp AAATAAT - intron_variant SKCA-BR 1 151228830 151228836 deletion of <=200bp AAATAAT - upstream_gene_variant SKCA-BR 1 151228844 151228844 single base substitution T A intron_variant SKCA-BR 1 151228844 151228844 single base substitution T A upstream_gene_variant SKCA-BR 1 151229580 151229580 single base substitution G A intron_variant SKCA-BR 1 151229580 151229580 single base substitution G A upstream_gene_variant SKCA-BR 1 151230929 151230929 single base substitution T G intron_variant SKCA-BR 1 151230929 151230929 single base substitution T G upstream_gene_variant SKCA-BR 1 151230950 151230951 deletion of <=200bp TG - intron_variant SKCA-BR 1 151230950 151230951 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 1 151230951 151230951 single base substitution G T intron_variant SKCA-BR 1 151230951 151230951 single base substitution G T upstream_gene_variant SKCA-BR 1 151231842 151231847 deletion of <=200bp TTGAAC - intron_variant SKCA-BR 1 151231842 151231847 deletion of <=200bp TTGAAC - upstream_gene_variant SKCA-BR 1 151232686 151232686 single base substitution A G intron_variant SKCA-BR 1 151232686 151232686 single base substitution A G upstream_gene_variant SKCA-BR 1 151235865 151235865 single base substitution G A downstream_gene_variant SKCA-BR 1 151235865 151235865 single base substitution G A intron_variant SKCA-BR 1 151235865 151235865 single base substitution G A upstream_gene_variant SKCA-BR 1 151236701 151236701 single base substitution C T downstream_gene_variant SKCA-BR 1 151236701 151236701 single base substitution C T intron_variant SKCA-BR 1 151236701 151236701 single base substitution C T upstream_gene_variant SKCA-BR 1 151237024 151237024 single base substitution T C downstream_gene_variant SKCA-BR 1 151237024 151237024 single base substitution T C intron_variant SKCA-BR 1 151237024 151237024 single base substitution T C upstream_gene_variant SKCA-BR 1 151237292 151237292 single base substitution C T downstream_gene_variant SKCA-BR 1 151237292 151237292 single base substitution C T intron_variant SKCA-BR 1 151237292 151237292 single base substitution C T upstream_gene_variant SKCA-BR 1 151239940 151239940 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 151239940 151239940 single base substitution C T downstream_gene_variant SKCA-BR 1 151240711 151240711 single base substitution T A downstream_gene_variant SKCA-BR 1 151242116 151242117 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 1 151242502 151242502 single base substitution C T downstream_gene_variant SKCM-US 1 151237936 151237936 single base substitution C T downstream_gene_variant SKCM-US 1 151237936 151237936 single base substitution C T exon_variant SKCM-US 1 151237936 151237936 single base substitution C T intron_variant SKCM-US 1 151237936 151237936 single base substitution C T missense_variant H154Y 460C>T SKCM-US 1 151237936 151237936 single base substitution C T missense_variant H169Y 505C>T SKCM-US 1 151237936 151237936 single base substitution C T upstream_gene_variant SKCM-US 1 151238796 151238796 single base substitution C T 3_prime_UTR_variant SKCM-US 1 151238796 151238796 single base substitution C T downstream_gene_variant SKCM-US 1 151238796 151238796 single base substitution C T exon_variant SKCM-US 1 151238796 151238796 single base substitution C T missense_variant A259V 776C>T SKCM-US 1 151238796 151238796 single base substitution C T missense_variant A262V 785C>T SKCM-US 1 151238796 151238796 single base substitution C T missense_variant A74V 221C>T SKCM-US 1 151238796 151238796 single base substitution C T upstream_gene_variant SKCM-US 1 151239724 151239724 single base substitution C T 3_prime_UTR_variant SKCM-US 1 151239724 151239724 single base substitution C T downstream_gene_variant SKCM-US 1 151239724 151239724 single base substitution C T missense_variant P162S 484C>T SKCM-US 1 151239724 151239724 single base substitution C T missense_variant P347S 1039C>T SKCM-US 1 151239724 151239724 single base substitution C T missense_variant P350S 1048C>T SKCM-US 1 151239724 151239724 single base substitution C T missense_variant P53S 157C>T STAD-US 1 151239749 151239749 single base substitution C A 3_prime_UTR_variant STAD-US 1 151239749 151239749 single base substitution C A downstream_gene_variant STAD-US 1 151239749 151239749 single base substitution C A missense_variant A170D 509C>A STAD-US 1 151239749 151239749 single base substitution C A missense_variant A355D 1064C>A STAD-US 1 151239749 151239749 single base substitution C A missense_variant A358D 1073C>A STAD-US 1 151239749 151239749 single base substitution C A missense_variant A61D 182C>A UCEC-US 1 151234658 151234658 single base substitution G A exon_variant UCEC-US 1 151234658 151234658 single base substitution G A missense_variant M16I 48G>A UCEC-US 1 151234658 151234658 single base substitution G A start_lost M1I 3G>A UCEC-US 1 151234658 151234658 single base substitution G A upstream_gene_variant UCEC-US 1 151234659 151234659 single base substitution C T exon_variant UCEC-US 1 151234659 151234659 single base substitution C T missense_variant R17W 49C>T UCEC-US 1 151234659 151234659 single base substitution C T missense_variant R2W 4C>T UCEC-US 1 151234659 151234659 single base substitution C T upstream_gene_variant UCEC-US 1 151237347 151237347 single base substitution C T downstream_gene_variant UCEC-US 1 151237347 151237347 single base substitution C T exon_variant UCEC-US 1 151237347 151237347 single base substitution C T missense_variant R108C 322C>T UCEC-US 1 151237347 151237347 single base substitution C T missense_variant R93C 277C>T UCEC-US 1 151237347 151237347 single base substitution C T upstream_gene_variant UCEC-US 1 151238020 151238020 single base substitution C A downstream_gene_variant UCEC-US 1 151238020 151238020 single base substitution C A exon_variant UCEC-US 1 151238020 151238020 single base substitution C A intron_variant UCEC-US 1 151238020 151238020 single base substitution C A missense_variant L182M 544C>A UCEC-US 1 151238020 151238020 single base substitution C A missense_variant L197M 589C>A UCEC-US 1 151238020 151238020 single base substitution C A upstream_gene_variant UCEC-US 1 151238503 151238508 deletion of <=200bp GCAGCG - downstream_gene_variant UCEC-US 1 151238503 151238508 deletion of <=200bp GCAGCG - exon_variant UCEC-US 1 151238503 151238508 deletion of <=200bp GCAGCG - inframe_deletion EQR226E UCEC-US 1 151238503 151238508 deletion of <=200bp GCAGCG - inframe_deletion EQR41E UCEC-US 1 151238503 151238508 deletion of <=200bp GCAGCG - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-J9-A52C-01 COSM4877276 c.50G>A p.R17Q Substitution - Missense 1:151262184-151262184 + T20 COSM4718496 c.750G>A p.T250T Substitution - coding silent 1:151266099-151266099 + TCGA-AP-A059-01 COSM895745 c.49C>T p.R17W Substitution - Missense 1:151262183-151262183 + TCGA-AP-A051-01 COSM895746 c.322C>T p.R108C Substitution - Missense 1:151264871-151264871 + I2L-P10-Tumor-Organoid COSM895745 c.49C>T p.R17W Substitution - Missense 1:151262183-151262183 + TCGA-AD-6889-01 COSM1333954 c.273C>T p.R91R Substitution - coding silent 1:151264019-151264019 + DLD1 COSM1667927 c.641C>A p.P214H Substitution - Missense 1:151265596-151265596 + TCGA-AP-A054-01 COSM895748 c.678_683delGCAGCG p.R230_Q231delRQ Deletion - In frame 1:151266027-151266032 + OSCC-GB_01160111 COSM5956225 c.763+7G>C p.? Unknown 1:151266119-151266119 + 587226 COSM1222347 c.220A>G p.K74E Substitution - Missense 1:151263966-151263966 + TCGA-A6-6780-01 COSM1333953 c.101A>G p.N34S Substitution - Missense 1:151262235-151262235 + 1011 COSM5730567 c.620_624delGAGTA p.V208fs*4 Deletion - Frameshift 1:151265575-151265579 + T3024 COSM1239973 c.709C>T p.R237W Substitution - Missense 1:151266058-151266058 + 587376 COSM1222349 c.1091C>T p.T364I Substitution - Missense 1:151267300-151267300 + PDA_012 COSM4998594 c.431G>T p.G144V Substitution - Missense 1:151265227-151265227 + T186 COSM4718495 c.398A>G p.K133R Substitution - Missense 1:151265194-151265194 + CSCC-30-T COSM4455374 c.748A>T p.T250S Substitution - Missense 1:151266097-151266097 + 0046_CRUK_PC_0046_T1_DNA COSM5423473 c.880T>G p.S294A Substitution - Missense 1:151266424-151266424 + YUHAMA COSM5377588 c.628C>T p.P210S Substitution - Missense 1:151265583-151265583 + YUKLAB COSM1688517 c.853G>A p.E285K Substitution - Missense 1:151266397-151266397 + TCGA-AP-A059-01 COSM895747 c.589C>A p.L197M Substitution - Missense 1:151265544-151265544 + PD3989a COSM3965798 c.388C>T p.R130C Substitution - Missense 1:151265184-151265184 + ICC008T COSM5823395 c.727G>T p.A243S Substitution - Missense 1:151266076-151266076 + TCGA-DK-A1AF-01 COSM1295032 c.847G>C p.E283Q Substitution - Missense 1:151266391-151266391 + PT48 COSM5930680 c.661C>T p.R221C Substitution - Missense 1:151266010-151266010 + PD23574a COSM5793694 c.199G>C p.D67H Substitution - Missense 1:151263945-151263945 + PD13602a COSM5780076 c.640C>T p.P214S Substitution - Missense 1:151265595-151265595 + CSCC-7-T COSM4553406 c.58G>A p.D20N Substitution - Missense 1:151262192-151262192 + RK214_C01 COSM3740651 c.1106A>G p.K369R Substitution - Missense 1:151267315-151267315 + Pat_60_B COSM2183257 c.515C>T p.T172I Substitution - Missense 1:151265470-151265470 + TCGA-BR-8361-01 COSM4022157 c.1064C>A p.A355D Substitution - Missense 1:151267273-151267273 + TCGA-AN-A0FZ-01 COSM423815 c.1099G>A p.G367S Substitution - Missense 1:151267308-151267308 + CHC1754T COSM4792934 c.640C>A p.P214T Substitution - Missense 1:151265595-151265595 + NPC3D COSM4995277 c.694G>A p.E232K Substitution - Missense 1:151266043-151266043 + CHC1754T COSM4792934 c.640C>A p.P214T Substitution - Missense 1:151265595-151265595 + TCGA-CZ-4865-01 COSM3360327 c.263C>T p.T88M Substitution - Missense 1:151264009-151264009 + CHC1591T COSM4800424 c.559C>T p.P187S Substitution - Missense 1:151265514-151265514 + TCGA-EE-A2A6-06 COSM2183256 c.505C>T p.H169Y Substitution - Missense 1:151265460-151265460 + TCGA-D9-A6EA-06 COSM2183274 c.1039C>T p.P347S Substitution - Missense 1:151267248-151267248 + TCGA-BP-4770-01 COSM462925 c.560C>T p.P187L Substitution - Missense 1:151265515-151265515 + H2009 COSM1193854 c.1028C>T p.P343L Substitution - Missense 1:151267237-151267237 + PD4098a COSM163791 c.226C>A p.H76N Substitution - Missense 1:151263972-151263972 + CHC1591T COSM4800424 c.559C>T p.P187S Substitution - Missense 1:151265514-151265514 + TCGA-85-6561-01 COSM675474 c.997G>T p.E333* Substitution - Nonsense 1:151267206-151267206 + ESCC_116 COSM5639856 c.30G>T p.V10V Substitution - coding silent 1:151262164-151262164 + HCC055T COSM5824007 c.581G>T p.G194V Substitution - Missense 1:151265536-151265536 + TCGA-85-6560-01 COSM675475 c.487A>G p.K163E Substitution - Missense 1:151265442-151265442 + SW837 COSM2183262 c.771C>T p.D257D Substitution - coding silent 1:151266315-151266315 + ESO-859 COSM1239973 c.709C>T p.R237W Substitution - Missense 1:151266058-151266058 + Pat_16_A COSM2183264 c.815G>A p.R272H Substitution - Missense 1:151266359-151266359 + TCGA-RC-A7SK-01 COSM4918653 c.513G>T p.V171V Substitution - coding silent 1:151265468-151265468 + CHC1201T COSM4801632 c.232G>T p.V78F Substitution - Missense 1:151263978-151263978 + DN11120 COSM5780076 c.640C>T p.P214S Substitution - Missense 1:151265595-151265595 + TCGA-AD-6889-01 COSM1333956 c.520C>T p.P174S Substitution - Missense 1:151265475-151265475 + 587228 COSM1222348 c.772G>A p.D258N Substitution - Missense 1:151266316-151266316 + HCC077T COSM5810377 c.13A>G p.S5G Substitution - Missense 1:151254795-151254795 + TCGA-FW-A3R5-06 COSM3862661 c.776C>T p.A259V Substitution - Missense 1:151266320-151266320 + HCT15 COSM1667927 c.641C>A p.P214H Substitution - Missense 1:151265596-151265596 + TCGA-28-5216-01 COSM3399694 c.395A>G p.K132R Substitution - Missense 1:151265191-151265191 + CHC1201T COSM4801632 c.232G>T p.V78F Substitution - Missense 1:151263978-151263978 + HCT-15 COSM1667927 c.641C>A p.P214H Substitution - Missense 1:151265596-151265596 + TCGA-D8-A1JA-01 COSM3801811 c.935C>G p.S312* Substitution - Nonsense 1:151266559-151266559 + T2999 COSM4718494 c.145G>A p.V49M Substitution - Missense 1:151262279-151262279 + I2L-P20-Tumor-Biopsy COSM5353158 c.293A>G p.K98R Substitution - Missense 1:151264842-151264842 + TCGA-AR-A256-01 COSM1472599 c.10G>C p.E4Q Substitution - Missense 1:151254792-151254792 + CN-AML-CR-63-Dx COSM5428565 c.561G>A p.P187P Substitution - coding silent 1:151265516-151265516 + 234 COSM3360327 c.263C>T p.T88M Substitution - Missense 1:151264009-151264009 + 46M COSM5588736 c.952G>A p.E318K Substitution - Missense 1:151266576-151266576 + H1155 COSM895745 c.49C>T p.R17W Substitution - Missense 1:151262183-151262183 + TCGA-D1-A177-01 COSM895744 c.48G>A p.M16I Substitution - Missense 1:151262182-151262182 + PD24325a COSM5781229 c.802C>G p.Q268E Substitution - Missense 1:151266346-151266346 + HCC003T COSM5819560 c.649G>T p.A217S Substitution - Missense 1:151265604-151265604 + TCGA-HW-7491-01 COSM3965798 c.388C>T p.R130C Substitution - Missense 1:151265184-151265184 + TCGA-EK-A3GK-01 COSM4854210 c.112C>T p.H38Y Substitution - Missense 1:151262246-151262246 + CPCG0117-F1 COSM4880257 c.744T>A p.I248I Substitution - coding silent 1:151266093-151266093 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.505050;Hs.505059 1q21.3 601648 2480802|CGAP|BC002365|A/G|coding|Val345Val|1046|Candidate; 2480802|CGAP|BC072008|A/G|coding|Val345Val|1060|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K132R c.395A>G 1 151237667 GBM A G Missense p.K163E c.487A>G 1 151237918 LUSC A G SpliceAcceptorSNV . c.896-2A>G 1 151238994 BRCA C A Missense p.H76N c.226C>A 1 151236448 BRCA C A Missense p.P187Q c.560C>A 1 151237991 CM C A Synonymous p.P347P c.1041C>A 1 151239726 LUAD CC TT SpliceAcceptorBlockSubstitution . c.656_657delinsTT 1 151238481 CM C G Synonymous p.L131L c.393C>G 1 151237665 HNSC C T IntronicSNV . c.370-5C>T 1 151237637 CM C T IntronicSNV . c.764-11C>T 1 151238773 CM C T Missense p.H169Y c.505C>T 1 151237936 CM C T Missense p.P187L c.560C>T 1 151237991 CM C T Missense p.R130C c.388C>T 1 151237660 LGG C T Missense p.R237W c.709C>T 1 151238534 ESCA C T Missense p.T88M c.263C>T 1 151236485 RCCC C T Synonymous p.A155A c.465C>T 1 151237896 LUAD G A Missense p.G367S c.1099G>A 1 151239784 BRCA G A Missense p.M16I c.48G>A 1 151234658 UCEC G A Missense p.R272H c.815G>A 1 151238835 HNSC G A Synonymous p.R17R c.51G>A 1 151234661 HNSC GCAGCG - InFrameDeletion p.R230_Q231delRQ c.688_693delCGGCAG 1 151238503 UCEC G C Missense p.E283Q c.847G>C 1 151238867 BLCA G C Missense p.E4Q c.10G>C 1 151227268 BRCA G T Missense p.D309Y c.925G>T 1 151239025 LUAD G T Nonsense p.E333* c.997G>T 1 151239682 LUSC