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 23 47062396 47062396 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chrX:47062396G>A c.1288G>A c.(1288-1290)Gag>Aag p.E430K BRCA 23 47058918 47058918 + Missense_Mutation SNP G G A TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chrX:47058918G>A c.385G>A c.(385-387)Gag>Aag p.E129K BRCA 23 47060715 47060715 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:47060715G>A c.628G>A c.(628-630)Gat>Aat p.D210N BRCA 23 47061598 47061598 + Silent SNP C C T TCGA-GM-A2DD-01A-11D-A17W-09 TCGA-GM-A2DD-10C-01D-A17W-09 g.chrX:47061598C>T c.855C>T c.(853-855)gaC>gaT p.D285D BRCA 23 47061807 47061807 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chrX:47061807C>T c.960C>T c.(958-960)ttC>ttT p.F320F BRCA 23 47061807 47061807 + Silent SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 g.chrX:47061807C>T c.960C>T c.(958-960)ttC>ttT p.F320F BRCA 23 47065655 47065655 + Missense_Mutation SNP A A T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 g.chrX:47065655A>T c.1750A>T c.(1750-1752)Atg>Ttg p.M584L BRCA 23 47065731 47065731 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:47065731T>G c.1826T>G c.(1825-1827)gTg>gGg p.V609G BRCA 23 47070300 47070300 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chrX:47070300C>A c.2259C>A c.(2257-2259)acC>acA p.T753T BRCA 23 47070446 47070446 + Silent SNP G G A TCGA-AN-A04D-01A-21W-A050-09 TCGA-AN-A04D-10A-01W-A055-09 g.chrX:47070446G>A c.2286G>A c.(2284-2286)ctG>ctA p.L762L BRCA 23 47070558 47070558 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:47070558A>C c.2398A>C c.(2398-2400)Acc>Ccc p.T800P BRCA 23 47070624 47070624 + Splice_Site SNP G G A TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chrX:47070624G>A c.2464G>A c.(2464-2466)Gat>Aat p.D822N BRCA 23 47072430 47072430 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:47072430G>A c.2688G>A c.(2686-2688)acG>acA p.T896T BRCA 23 47073738 47073738 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:47073738G>A c.2851G>A c.(2851-2853)Gag>Aag p.E951K BRCA 23 47073947 47073947 + Silent SNP A A G TCGA-D8-A27P-01A-11D-A16D-09 TCGA-D8-A27P-10A-01D-A16D-09 g.chrX:47073947A>G c.2952A>G c.(2950-2952)aaA>aaG p.K984K BRCA 23 47073983 47073983 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chrX:47073983G>A c.2988G>A c.(2986-2988)atG>atA p.M996I BRCA 23 47074208 47074208 + Silent SNP G G T TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chrX:47074208G>T c.3057G>T c.(3055-3057)gtG>gtT p.V1019V CESC 23 47060913 47060913 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 g.chrX:47060913C>T c.715C>T c.(715-717)Cga>Tga p.R239* CESC 23 47062948 47062948 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chrX:47062948G>C c.1428G>C c.(1426-1428)gcG>gcC p.A476A CESC 23 47071825 47071825 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chrX:47071825G>A c.2467G>A c.(2467-2469)Gac>Aac p.D823N COAD 23 47060930 47060930 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:47060930C>T c.732C>T c.(730-732)agC>agT p.S244S COAD 23 47061848 47061848 + Missense_Mutation SNP A A T TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chrX:47061848A>T c.1001A>T c.(1000-1002)cAg>cTg p.Q334L COAD 23 47061869 47061869 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:47061869C>T c.1022C>T c.(1021-1023)gCt>gTt p.A341V COAD 23 47062967 47062967 + Missense_Mutation SNP C C A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:47062967C>A c.1447C>A c.(1447-1449)Ctg>Atg p.L483M COAD 23 47065672 47065672 + Silent SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:47065672C>T c.1767C>T c.(1765-1767)gtC>gtT p.V589V COAD 23 47065702 47065702 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47065702C>T c.1797C>T c.(1795-1797)ggC>ggT p.G599G COAD 23 47069400 47069400 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:47069400C>A c.2077C>A c.(2077-2079)Cgc>Agc p.R693S COAD 23 47070258 47070258 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:47070258G>A c.2217G>A c.(2215-2217)gcG>gcA p.A739A COAD 23 47070294 47070294 + Silent SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:47070294G>A c.2253G>A c.(2251-2253)ccG>ccA p.P751P COAD 23 47070571 47070571 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chrX:47070571G>A c.2411G>A c.(2410-2412)gGc>gAc p.G804D COAD 23 47070573 47070573 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:47070573G>A c.2413G>A c.(2413-2415)Gtc>Atc p.V805I COAD 23 47072409 47072409 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chrX:47072409G>A c.2667G>A c.(2665-2667)aaG>aaA p.K889K COAD 23 47072566 47072566 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:47072566G>A c.2824G>A c.(2824-2826)Gca>Aca p.A942T COAD 23 47072566 47072566 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:47072566G>A c.2824G>A c.(2824-2826)Gca>Aca p.A942T COADREAD 23 47058303 47058303 + Silent SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:47058303C>A c.102C>A c.(100-102)ccC>ccA p.P34P COADREAD 23 47060930 47060930 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:47060930C>T c.732C>T c.(730-732)agC>agT p.S244S COADREAD 23 47061848 47061848 + Missense_Mutation SNP A A T TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chrX:47061848A>T c.1001A>T c.(1000-1002)cAg>cTg p.Q334L COADREAD 23 47061869 47061869 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:47061869C>T c.1022C>T c.(1021-1023)gCt>gTt p.A341V COADREAD 23 47062533 47062533 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:47062533C>T c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C COADREAD 23 47062967 47062967 + Missense_Mutation SNP C C A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:47062967C>A c.1447C>A c.(1447-1449)Ctg>Atg p.L483M COADREAD 23 47065672 47065672 + Silent SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:47065672C>T c.1767C>T c.(1765-1767)gtC>gtT p.V589V COADREAD 23 47065702 47065702 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47065702C>T c.1797C>T c.(1795-1797)ggC>ggT p.G599G COADREAD 23 47069380 47069380 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chrX:47069380A>G c.2057A>G c.(2056-2058)gAg>gGg p.E686G COADREAD 23 47069400 47069400 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:47069400C>A c.2077C>A c.(2077-2079)Cgc>Agc p.R693S COADREAD 23 47070258 47070258 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:47070258G>A c.2217G>A c.(2215-2217)gcG>gcA p.A739A COADREAD 23 47070294 47070294 + Silent SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:47070294G>A c.2253G>A c.(2251-2253)ccG>ccA p.P751P COADREAD 23 47070571 47070571 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chrX:47070571G>A c.2411G>A c.(2410-2412)gGc>gAc p.G804D COADREAD 23 47070573 47070573 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:47070573G>A c.2413G>A c.(2413-2415)Gtc>Atc p.V805I COADREAD 23 47072409 47072409 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chrX:47072409G>A c.2667G>A c.(2665-2667)aaG>aaA p.K889K COADREAD 23 47072566 47072566 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:47072566G>A c.2824G>A c.(2824-2826)Gca>Aca p.A942T COADREAD 23 47072566 47072566 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:47072566G>A c.2824G>A c.(2824-2826)Gca>Aca p.A942T DLBC 23 47070261 47070261 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:47070261G>A c.2220G>A c.(2218-2220)ccG>ccA p.P740P DLBC 23 47070468 47070468 + Missense_Mutation SNP A A C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:47070468A>C c.2308A>C c.(2308-2310)Aac>Cac p.N770H ESCA 23 47058627 47058627 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chrX:47058627G>A c.196G>A c.(196-198)Gca>Aca p.A66T ESCA 23 47065781 47065781 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chrX:47065781G>T c.1876G>T c.(1876-1878)Gag>Tag p.E626* ESCA 23 47072572 47072572 + Missense_Mutation SNP C C T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chrX:47072572C>T c.2830C>T c.(2830-2832)Cgt>Tgt p.R944C ESCA 23 47074032 47074032 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chrX:47074032C>G c.3037C>G c.(3037-3039)Cag>Gag p.Q1013E GBM 23 47069360 47069360 + Silent SNP G G C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chrX:47069360G>C c.2037G>C c.(2035-2037)ctG>ctC p.L679L GBMLGG 23 47069360 47069360 + Silent SNP G G C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chrX:47069360G>C c.2037G>C c.(2035-2037)ctG>ctC p.L679L HNSC 23 47058202 47058202 + Splice_Site SNP A A T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chrX:47058202A>T c.1A>T c.(1-3)Atg>Ttg p.M1L HNSC 23 47058240 47058240 + Silent SNP C C T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chrX:47058240C>T c.39C>T c.(37-39)tcC>tcT p.S13S HNSC 23 47058499 47058499 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chrX:47058499G>A c.170G>A c.(169-171)cGg>cAg p.R57Q HNSC 23 47060900 47060900 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:47060900C>T c.702C>T c.(700-702)tgC>tgT p.C234C HNSC 23 47069517 47069517 + Missense_Mutation SNP G G C TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chrX:47069517G>C c.2194G>C c.(2194-2196)Gac>Cac p.D732H HNSC 23 47074277 47074277 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chrX:47074277C>T c.3126C>T c.(3124-3126)gaC>gaT p.D1042D KICH 23 47058254 47058254 + Missense_Mutation SNP A A G TCGA-KL-8346-01A-11D-2310-10 TCGA-KL-8346-11A-01D-2310-10 g.chrX:47058254A>G c.53A>G c.(52-54)aAg>aGg p.K18R KICH 23 47062169 47062169 + Missense_Mutation SNP A A G TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chrX:47062169A>G c.1189A>G c.(1189-1191)Ata>Gta p.I397V KIPAN 23 47058254 47058254 + Missense_Mutation SNP A A G TCGA-KL-8346-01A-11D-2310-10 TCGA-KL-8346-11A-01D-2310-10 g.chrX:47058254A>G c.53A>G c.(52-54)aAg>aGg p.K18R KIPAN 23 47062169 47062169 + Missense_Mutation SNP A A G TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chrX:47062169A>G c.1189A>G c.(1189-1191)Ata>Gta p.I397V KIPAN 23 47062342 47062342 + Splice_Site SNP G G A TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chrX:47062342G>A c.1234G>A c.(1234-1236)Gcc>Acc p.A412T KIPAN 23 47069022 47069022 + Splice_Site SNP T T G TCGA-A4-8098-01A-11D-2396-08 TCGA-A4-8098-10A-01D-2396-08 g.chrX:47069022T>G c.1939T>G c.(1939-1941)Tgg>Ggg p.W647G KIRC 23 47062342 47062342 + Splice_Site SNP G G A TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chrX:47062342G>A c.1234G>A c.(1234-1236)Gcc>Acc p.A412T KIRP 23 47069022 47069022 + Splice_Site SNP T T G TCGA-A4-8098-01A-11D-2396-08 TCGA-A4-8098-10A-01D-2396-08 g.chrX:47069022T>G c.1939T>G c.(1939-1941)Tgg>Ggg p.W647G LIHC 23 47062208 47062208 + Missense_Mutation SNP A A G TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chrX:47062208A>G c.1228A>G c.(1228-1230)Atg>Gtg p.M410V LIHC 23 47065414 47065414 + Missense_Mutation SNP A A G TCGA-DD-AACG-01A-11D-A40R-10 TCGA-DD-AACG-10A-01D-A40U-10 g.chrX:47065414A>G c.1643A>G c.(1642-1644)cAc>cGc p.H548R LIHC 23 47065468 47065468 + Missense_Mutation SNP A A G TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chrX:47065468A>G c.1697A>G c.(1696-1698)cAa>cGa p.Q566R LIHC 23 47074244 47074244 + Silent SNP G G A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chrX:47074244G>A c.3093G>A c.(3091-3093)gtG>gtA p.V1031V LUAD 23 47060987 47060987 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 g.chrX:47060987G>T c.789G>T c.(787-789)caG>caT p.Q263H LUAD 23 47061801 47061801 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chrX:47061801G>T c.954G>T c.(952-954)acG>acT p.T318T LUAD 23 47062073 47062073 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chrX:47062073G>T c.1093G>T c.(1093-1095)Gtg>Ttg p.V365L LUAD 23 47062565 47062565 + Silent SNP G G T TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chrX:47062565G>T c.1371G>T c.(1369-1371)gtG>gtT p.V457V LUAD 23 47062972 47062972 + Silent SNP C C G TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chrX:47062972C>G c.1452C>G c.(1450-1452)ctC>ctG p.L484L LUAD 23 47065667 47065667 + Missense_Mutation SNP T T C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chrX:47065667T>C c.1762T>C c.(1762-1764)Tgt>Cgt p.C588R LUAD 23 47071826 47071826 + Missense_Mutation SNP A A G TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chrX:47071826A>G c.2468A>G c.(2467-2469)gAc>gGc p.D823G LUSC 23 47070251 47070251 + Missense_Mutation SNP C C T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chrX:47070251C>T c.2210C>T c.(2209-2211)tCa>tTa p.S737L LUSC 23 47070573 47070573 + Missense_Mutation SNP G G C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chrX:47070573G>C c.2413G>C c.(2413-2415)Gtc>Ctc p.V805L LUSC 23 47072255 47072255 + Missense_Mutation SNP G G A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chrX:47072255G>A c.2639G>A c.(2638-2640)cGg>cAg p.R880Q OV 23 47060332 47060332 + Frame_Shift_Del DEL C C - TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 g.chrX:47060332delC c.520delC c.(520-522)cgafs p.R174fs OV 23 47065672 47065672 + Silent SNP C C G TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chrX:47065672C>G c.1767C>G c.(1765-1767)gtC>gtG p.V589V OV 23 47074275 47074275 + Missense_Mutation SNP G G A TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chrX:47074275G>A c.3124G>A c.(3124-3126)Gac>Aac p.D1042N PAAD 23 47058941 47058941 + Silent SNP T T C TCGA-FZ-5926-01A-11D-1609-08 TCGA-FZ-5926-11A-01D-1609-08 g.chrX:47058941T>C c.408T>C c.(406-408)gcT>gcC p.A136A PAAD 23 47058959 47058959 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:47058959G>A c.426G>A c.(424-426)gtG>gtA p.V142V PAAD 23 47065399 47065399 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:47065399T>C c.1628T>C c.(1627-1629)aTc>aCc p.I543T PRAD 23 47061766 47061766 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:47061766G>A c.919G>A c.(919-921)Gtg>Atg p.V307M PRAD 23 47069466 47069466 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chrX:47069466C>T c.2143C>T c.(2143-2145)Cac>Tac p.H715Y READ 23 47058303 47058303 + Silent SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:47058303C>A c.102C>A c.(100-102)ccC>ccA p.P34P READ 23 47062533 47062533 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:47062533C>T c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C READ 23 47069380 47069380 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chrX:47069380A>G c.2057A>G c.(2056-2058)gAg>gGg p.E686G SARC 23 47060958 47060958 + Nonsense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 g.chrX:47060958C>T c.760C>T c.(760-762)Cag>Tag p.Q254* SKCM 23 47060944 47060944 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:47060944C>T c.746C>T c.(745-747)tCc>tTc p.S249F SKCM 23 47065788 47065788 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chrX:47065788C>T c.1883C>T c.(1882-1884)tCc>tTc p.S628F SKCM 23 47065792 47065792 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrX:47065792C>T c.1887C>T c.(1885-1887)atC>atT p.I629I SKCM 23 47073812 47073812 + Silent SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:47073812C>T c.2925C>T c.(2923-2925)ttC>ttT p.F975F SKCM 23 47074246 47074246 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:47074246G>C c.3095G>C c.(3094-3096)cGg>cCg p.R1032P

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 X 47045491 47045491 single base substitution G A upstream_gene_variant BLCA-US X 47045533 47045533 single base substitution A T upstream_gene_variant BLCA-US X 47062396 47062396 single base substitution G A downstream_gene_variant BLCA-US X 47062396 47062396 single base substitution G A exon_variant BLCA-US X 47062396 47062396 single base substitution G A missense_variant E430K 1288G>A BLCA-US X 47069375 47069375 single base substitution C T downstream_gene_variant BLCA-US X 47069375 47069375 single base substitution C T synonymous_variant P132P 396C>T BLCA-US X 47069375 47069375 single base substitution C T synonymous_variant P684P 2052C>T BRCA-EU X 47045736 47045736 single base substitution G C upstream_gene_variant BRCA-EU X 47046970 47046970 single base substitution A G upstream_gene_variant BRCA-EU X 47047286 47047286 single base substitution C T upstream_gene_variant BRCA-EU X 47048381 47048381 single base substitution A T upstream_gene_variant BRCA-EU X 47049290 47049290 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 47049670 47049670 single base substitution C T upstream_gene_variant BRCA-EU X 47050090 47050090 single base substitution G A upstream_gene_variant BRCA-EU X 47050379 47050379 single base substitution C T intron_variant BRCA-EU X 47050379 47050379 single base substitution C T upstream_gene_variant BRCA-EU X 47053085 47053085 single base substitution G T intron_variant BRCA-EU X 47053085 47053085 single base substitution G T upstream_gene_variant BRCA-EU X 47053316 47053316 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU X 47053316 47053316 single base substitution C G intron_variant BRCA-EU X 47053316 47053316 single base substitution C G upstream_gene_variant BRCA-EU X 47053451 47053451 single base substitution C T intron_variant BRCA-EU X 47053451 47053451 single base substitution C T upstream_gene_variant BRCA-EU X 47053633 47053633 single base substitution T G intron_variant BRCA-EU X 47053633 47053633 single base substitution T G upstream_gene_variant BRCA-EU X 47053641 47053641 single base substitution G A intron_variant BRCA-EU X 47053641 47053641 single base substitution G A upstream_gene_variant BRCA-EU X 47053876 47053876 single base substitution C T intron_variant BRCA-EU X 47053876 47053876 single base substitution C T upstream_gene_variant BRCA-EU X 47054919 47054919 single base substitution G T intron_variant BRCA-EU X 47054919 47054919 single base substitution G T upstream_gene_variant BRCA-EU X 47055700 47055700 single base substitution G T intron_variant BRCA-EU X 47055700 47055700 single base substitution G T upstream_gene_variant BRCA-EU X 47057742 47057742 single base substitution C A intron_variant BRCA-EU X 47057742 47057742 single base substitution C A missense_variant N10K 30C>A BRCA-EU X 47057742 47057742 single base substitution C A missense_variant N47K 141C>A BRCA-EU X 47057742 47057742 single base substitution C A upstream_gene_variant BRCA-EU X 47058637 47058637 single base substitution G A missense_variant R120Q 359G>A BRCA-EU X 47058637 47058637 single base substitution G A missense_variant R69Q 206G>A BRCA-EU X 47058637 47058637 single base substitution G A missense_variant R83Q 248G>A BRCA-EU X 47058637 47058637 single base substitution G A upstream_gene_variant BRCA-EU X 47060031 47060031 single base substitution G A downstream_gene_variant BRCA-EU X 47060031 47060031 single base substitution G A intron_variant BRCA-EU X 47060031 47060031 single base substitution G A upstream_gene_variant BRCA-EU X 47061023 47061023 single base substitution A G downstream_gene_variant BRCA-EU X 47061023 47061023 single base substitution A G intron_variant BRCA-EU X 47061023 47061023 single base substitution A G upstream_gene_variant BRCA-EU X 47061859 47061859 single base substitution C T downstream_gene_variant BRCA-EU X 47061859 47061859 single base substitution C T stop_gained Q338* 1012C>T BRCA-EU X 47061859 47061859 single base substitution C T upstream_gene_variant BRCA-EU X 47062351 47062351 single base substitution G A downstream_gene_variant BRCA-EU X 47062351 47062351 single base substitution G A exon_variant BRCA-EU X 47062351 47062351 single base substitution G A missense_variant G415R 1243G>A BRCA-EU X 47062599 47062599 single base substitution C T downstream_gene_variant BRCA-EU X 47062599 47062599 single base substitution C T exon_variant BRCA-EU X 47062599 47062599 single base substitution C T stop_gained Q469* 1405C>T BRCA-EU X 47063045 47063045 single base substitution G A downstream_gene_variant BRCA-EU X 47063045 47063045 single base substitution G A exon_variant BRCA-EU X 47063045 47063045 single base substitution G A missense_variant E509K 1525G>A BRCA-EU X 47063045 47063045 single base substitution G A upstream_gene_variant BRCA-EU X 47063486 47063486 single base substitution T G downstream_gene_variant BRCA-EU X 47063486 47063486 single base substitution T G intron_variant BRCA-EU X 47063486 47063486 single base substitution T G upstream_gene_variant BRCA-EU X 47064283 47064283 single base substitution G C downstream_gene_variant BRCA-EU X 47064283 47064283 single base substitution G C intron_variant BRCA-EU X 47064283 47064283 single base substitution G C upstream_gene_variant BRCA-EU X 47066334 47066334 single base substitution G C downstream_gene_variant BRCA-EU X 47066334 47066334 single base substitution G C intron_variant BRCA-EU X 47066334 47066334 single base substitution G C upstream_gene_variant BRCA-EU X 47066354 47066354 single base substitution C T downstream_gene_variant BRCA-EU X 47066354 47066354 single base substitution C T intron_variant BRCA-EU X 47066354 47066354 single base substitution C T upstream_gene_variant BRCA-EU X 47067836 47067839 deletion of <=200bp TACA - downstream_gene_variant BRCA-EU X 47067836 47067839 deletion of <=200bp TACA - intron_variant BRCA-EU X 47067836 47067839 deletion of <=200bp TACA - upstream_gene_variant BRCA-EU X 47068271 47068271 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU X 47068271 47068271 single base substitution T C downstream_gene_variant BRCA-EU X 47068271 47068271 single base substitution T C intron_variant BRCA-EU X 47068786 47068786 single base substitution C G downstream_gene_variant BRCA-EU X 47068786 47068786 single base substitution C G intron_variant BRCA-EU X 47068786 47068786 single base substitution C G stop_gained S16* 47C>G BRCA-EU X 47068977 47068977 single base substitution T A downstream_gene_variant BRCA-EU X 47068977 47068977 single base substitution T A intron_variant BRCA-EU X 47068977 47068977 single base substitution T A missense_variant F80I 238T>A BRCA-EU X 47069346 47069346 single base substitution C T downstream_gene_variant BRCA-EU X 47069346 47069346 single base substitution C T stop_gained R123* 367C>T BRCA-EU X 47069346 47069346 single base substitution C T stop_gained R675* 2023C>T BRCA-EU X 47071453 47071453 deletion of <=200bp T - intron_variant BRCA-EU X 47071467 47071467 single base substitution T A intron_variant BRCA-EU X 47071902 47071902 single base substitution C G missense_variant D296E 888C>G BRCA-EU X 47071902 47071902 single base substitution C G missense_variant D848E 2544C>G BRCA-EU X 47072611 47072611 single base substitution G C intron_variant BRCA-EU X 47073582 47073582 single base substitution G C intron_variant BRCA-EU X 47073604 47073604 single base substitution C T intron_variant BRCA-EU X 47074241 47074241 single base substitution C T synonymous_variant H1030H 3090C>T BRCA-EU X 47074241 47074241 single base substitution C T synonymous_variant H478H 1434C>T BRCA-EU X 47074773 47074773 single base substitution G A downstream_gene_variant BRCA-EU X 47075233 47075233 single base substitution C G downstream_gene_variant BRCA-EU X 47077420 47077420 single base substitution A T downstream_gene_variant BRCA-EU X 47077448 47077448 single base substitution G C downstream_gene_variant BRCA-EU X 47078033 47078033 single base substitution C G downstream_gene_variant BRCA-EU X 47078344 47078344 single base substitution C T downstream_gene_variant BRCA-EU X 47078506 47078506 single base substitution T C downstream_gene_variant BRCA-EU X 47078800 47078800 single base substitution A T downstream_gene_variant BRCA-FR X 47055700 47055700 single base substitution G T intron_variant BRCA-FR X 47055700 47055700 single base substitution G T upstream_gene_variant BRCA-FR X 47060913 47060913 single base substitution C T downstream_gene_variant BRCA-FR X 47060913 47060913 single base substitution C T stop_gained R239* 715C>T BRCA-FR X 47060913 47060913 single base substitution C T stop_gained R253* 757C>T BRCA-FR X 47060913 47060913 single base substitution C T upstream_gene_variant BRCA-FR X 47062599 47062599 single base substitution C T downstream_gene_variant BRCA-FR X 47062599 47062599 single base substitution C T exon_variant BRCA-FR X 47062599 47062599 single base substitution C T stop_gained Q469* 1405C>T BRCA-FR X 47062699 47062699 single base substitution C T downstream_gene_variant BRCA-FR X 47062699 47062699 single base substitution C T intron_variant BRCA-FR X 47068503 47068503 single base substitution A G 5_prime_UTR_variant BRCA-FR X 47068503 47068503 single base substitution A G downstream_gene_variant BRCA-FR X 47068503 47068503 single base substitution A G intron_variant BRCA-FR X 47071902 47071902 single base substitution C G missense_variant D296E 888C>G BRCA-FR X 47071902 47071902 single base substitution C G missense_variant D848E 2544C>G BRCA-FR X 47074773 47074773 single base substitution G A downstream_gene_variant BRCA-FR X 47077420 47077420 single base substitution A T downstream_gene_variant BRCA-KR X 47045446 47045446 single base substitution A G upstream_gene_variant BRCA-KR X 47064862 47064862 single base substitution C T downstream_gene_variant BRCA-KR X 47064862 47064862 single base substitution C T intron_variant BRCA-KR X 47064862 47064862 single base substitution C T upstream_gene_variant BRCA-UK X 47069346 47069346 single base substitution C T downstream_gene_variant BRCA-UK X 47069346 47069346 single base substitution C T stop_gained R123* 367C>T BRCA-UK X 47069346 47069346 single base substitution C T stop_gained R675* 2023C>T BRCA-UK X 47073613 47073613 single base substitution G C intron_variant BRCA-US X 47045972 47045972 single base substitution G A upstream_gene_variant BRCA-US X 47046095 47046095 single base substitution G A upstream_gene_variant BRCA-US X 47058918 47058918 single base substitution G A missense_variant E129K 385G>A BRCA-US X 47058918 47058918 single base substitution G A missense_variant E143K 427G>A BRCA-US X 47058918 47058918 single base substitution G A missense_variant E180K 538G>A BRCA-US X 47058918 47058918 single base substitution G A upstream_gene_variant BRCA-US X 47060715 47060715 single base substitution G A downstream_gene_variant BRCA-US X 47060715 47060715 single base substitution G A missense_variant D210N 628G>A BRCA-US X 47060715 47060715 single base substitution G A missense_variant D224N 670G>A BRCA-US X 47060715 47060715 single base substitution G A upstream_gene_variant BRCA-US X 47061598 47061598 single base substitution C T downstream_gene_variant BRCA-US X 47061598 47061598 single base substitution C T synonymous_variant D285D 855C>T BRCA-US X 47061598 47061598 single base substitution C T upstream_gene_variant BRCA-US X 47061807 47061807 single base substitution C T downstream_gene_variant BRCA-US X 47061807 47061807 single base substitution C T synonymous_variant F320F 960C>T BRCA-US X 47061807 47061807 single base substitution C T upstream_gene_variant BRCA-US X 47065655 47065655 single base substitution A T downstream_gene_variant BRCA-US X 47065655 47065655 single base substitution A T exon_variant BRCA-US X 47065655 47065655 single base substitution A T missense_variant M584L 1750A>T BRCA-US X 47065655 47065655 single base substitution A T upstream_gene_variant BRCA-US X 47065731 47065731 single base substitution T G downstream_gene_variant BRCA-US X 47065731 47065731 single base substitution T G exon_variant BRCA-US X 47065731 47065731 single base substitution T G missense_variant V609G 1826T>G BRCA-US X 47065731 47065731 single base substitution T G upstream_gene_variant BRCA-US X 47066043 47066043 deletion of <=200bp T - exon_variant BRCA-US X 47066043 47066043 deletion of <=200bp T - intron_variant BRCA-US X 47066043 47066043 deletion of <=200bp T - upstream_gene_variant BRCA-US X 47070300 47070300 single base substitution C A downstream_gene_variant BRCA-US X 47070300 47070300 single base substitution C A synonymous_variant T201T 603C>A BRCA-US X 47070300 47070300 single base substitution C A synonymous_variant T753T 2259C>A BRCA-US X 47070446 47070446 single base substitution G A downstream_gene_variant BRCA-US X 47070446 47070446 single base substitution G A synonymous_variant L210L 630G>A BRCA-US X 47070446 47070446 single base substitution G A synonymous_variant L762L 2286G>A BRCA-US X 47070558 47070558 single base substitution A C downstream_gene_variant BRCA-US X 47070558 47070558 single base substitution A C missense_variant T248P 742A>C BRCA-US X 47070558 47070558 single base substitution A C missense_variant T800P 2398A>C BRCA-US X 47070624 47070624 single base substitution G A downstream_gene_variant BRCA-US X 47070624 47070624 single base substitution G A missense_variant D270N 808G>A BRCA-US X 47070624 47070624 single base substitution G A missense_variant D822N 2464G>A BRCA-US X 47072430 47072430 single base substitution G A synonymous_variant T344T 1032G>A BRCA-US X 47072430 47072430 single base substitution G A synonymous_variant T896T 2688G>A BRCA-US X 47073738 47073738 single base substitution G A missense_variant E399K 1195G>A BRCA-US X 47073738 47073738 single base substitution G A missense_variant E951K 2851G>A BRCA-US X 47073947 47073947 single base substitution A G synonymous_variant K432K 1296A>G BRCA-US X 47073947 47073947 single base substitution A G synonymous_variant K984K 2952A>G BRCA-US X 47073983 47073983 single base substitution G A missense_variant M444I 1332G>A BRCA-US X 47073983 47073983 single base substitution G A missense_variant M996I 2988G>A BRCA-US X 47074208 47074208 single base substitution G T synonymous_variant V1019V 3057G>T BRCA-US X 47074208 47074208 single base substitution G T synonymous_variant V467V 1401G>T BTCA-JP X 47045495 47045495 single base substitution G A upstream_gene_variant BTCA-JP X 47078375 47078375 single base substitution G A downstream_gene_variant CESC-US X 47045755 47045755 single base substitution G A upstream_gene_variant CESC-US X 47060913 47060913 single base substitution C T downstream_gene_variant CESC-US X 47060913 47060913 single base substitution C T stop_gained R239* 715C>T CESC-US X 47060913 47060913 single base substitution C T stop_gained R253* 757C>T CESC-US X 47060913 47060913 single base substitution C T upstream_gene_variant CESC-US X 47062948 47062948 single base substitution G C downstream_gene_variant CESC-US X 47062948 47062948 single base substitution G C exon_variant CESC-US X 47062948 47062948 single base substitution G C synonymous_variant A476A 1428G>C CESC-US X 47071825 47071825 single base substitution G A missense_variant D271N 811G>A CESC-US X 47071825 47071825 single base substitution G A missense_variant D823N 2467G>A CLLE-ES X 47056232 47056232 single base substitution A G intron_variant CLLE-ES X 47056232 47056232 single base substitution A G upstream_gene_variant CLLE-ES X 47066142 47066142 single base substitution T A downstream_gene_variant CLLE-ES X 47066142 47066142 single base substitution T A intron_variant CLLE-ES X 47066142 47066142 single base substitution T A upstream_gene_variant CMDI-UK X 47065766 47065766 single base substitution A T downstream_gene_variant CMDI-UK X 47065766 47065766 single base substitution A T exon_variant CMDI-UK X 47065766 47065766 single base substitution A T missense_variant S621C 1861A>T CMDI-UK X 47065766 47065766 single base substitution A T upstream_gene_variant COAD-US X 47045500 47045500 single base substitution G T upstream_gene_variant COAD-US X 47061848 47061848 single base substitution A T downstream_gene_variant COAD-US X 47061848 47061848 single base substitution A T missense_variant Q334L 1001A>T COAD-US X 47061848 47061848 single base substitution A T upstream_gene_variant COAD-US X 47069400 47069400 single base substitution C A downstream_gene_variant COAD-US X 47069400 47069400 single base substitution C A missense_variant R141S 421C>A COAD-US X 47069400 47069400 single base substitution C A missense_variant R693S 2077C>A COAD-US X 47070573 47070573 single base substitution G A downstream_gene_variant COAD-US X 47070573 47070573 single base substitution G A missense_variant V253I 757G>A COAD-US X 47070573 47070573 single base substitution G A missense_variant V805I 2413G>A COAD-US X 47072409 47072409 single base substitution G A synonymous_variant K337K 1011G>A COAD-US X 47072409 47072409 single base substitution G A synonymous_variant K889K 2667G>A COAD-US X 47072566 47072566 single base substitution G A missense_variant A390T 1168G>A COAD-US X 47072566 47072566 single base substitution G A missense_variant A942T 2824G>A COCA-CN X 47058857 47058857 single base substitution T C intron_variant COCA-CN X 47058857 47058857 single base substitution T C upstream_gene_variant COCA-CN X 47060435 47060435 single base substitution T C downstream_gene_variant COCA-CN X 47060435 47060435 single base substitution T C intron_variant COCA-CN X 47060435 47060435 single base substitution T C upstream_gene_variant COCA-CN X 47060886 47060886 single base substitution G T downstream_gene_variant COCA-CN X 47060886 47060886 single base substitution G T missense_variant G230C 688G>T COCA-CN X 47060886 47060886 single base substitution G T missense_variant G244C 730G>T COCA-CN X 47060886 47060886 single base substitution G T upstream_gene_variant COCA-CN X 47062402 47062402 single base substitution C T downstream_gene_variant COCA-CN X 47062402 47062402 single base substitution C T exon_variant COCA-CN X 47062402 47062402 single base substitution C T missense_variant L432F 1294C>T COCA-CN X 47062533 47062533 single base substitution C T downstream_gene_variant COCA-CN X 47062533 47062533 single base substitution C T missense_variant R447C 1339C>T COCA-CN X 47062533 47062533 single base substitution C T splice_region_variant COCA-CN X 47065713 47065713 single base substitution C T downstream_gene_variant COCA-CN X 47065713 47065713 single base substitution C T exon_variant COCA-CN X 47065713 47065713 single base substitution C T missense_variant T603I 1808C>T COCA-CN X 47065713 47065713 single base substitution C T upstream_gene_variant EOPC-DE X 47049263 47049263 single base substitution C T upstream_gene_variant EOPC-DE X 47051672 47051672 single base substitution C T intron_variant EOPC-DE X 47051672 47051672 single base substitution C T upstream_gene_variant ESCA-CN X 47058319 47058319 single base substitution G A splice_donor_variant ESCA-CN X 47058319 47058319 single base substitution G A upstream_gene_variant ESCA-CN X 47058887 47058887 single base substitution G A synonymous_variant L118L 354G>A ESCA-CN X 47058887 47058887 single base substitution G A synonymous_variant L132L 396G>A ESCA-CN X 47058887 47058887 single base substitution G A synonymous_variant L169L 507G>A ESCA-CN X 47058887 47058887 single base substitution G A upstream_gene_variant ESCA-CN X 47073766 47073766 single base substitution T C missense_variant V408A 1223T>C ESCA-CN X 47073766 47073766 single base substitution T C missense_variant V960A 2879T>C GBM-US X 47069360 47069360 single base substitution G C downstream_gene_variant GBM-US X 47069360 47069360 single base substitution G C synonymous_variant L127L 381G>C GBM-US X 47069360 47069360 single base substitution G C synonymous_variant L679L 2037G>C KIRC-US X 47062342 47062342 single base substitution G A downstream_gene_variant KIRC-US X 47062342 47062342 single base substitution G A missense_variant A412T 1234G>A KIRC-US X 47062342 47062342 single base substitution G A splice_region_variant KIRP-US X 47069022 47069022 single base substitution T G downstream_gene_variant KIRP-US X 47069022 47069022 single base substitution T G missense_variant W647G 1939T>G KIRP-US X 47069022 47069022 single base substitution T G missense_variant W95G 283T>G LAML-KR X 47074176 47074176 single base substitution C T intron_variant LICA-CN X 47074233 47074233 single base substitution G T missense_variant G1028C 3082G>T LICA-CN X 47074233 47074233 single base substitution G T missense_variant G476C 1426G>T LICA-FR X 47068019 47068019 insertion of <=200bp - T 5_prime_UTR_variant LICA-FR X 47068019 47068019 insertion of <=200bp - T downstream_gene_variant LICA-FR X 47068019 47068019 insertion of <=200bp - T intron_variant LIHC-US X 47062208 47062208 single base substitution A G downstream_gene_variant LIHC-US X 47062208 47062208 single base substitution A G exon_variant LIHC-US X 47062208 47062208 single base substitution A G missense_variant M410V 1228A>G LIHC-US X 47065468 47065468 single base substitution A G downstream_gene_variant LIHC-US X 47065468 47065468 single base substitution A G intron_variant LIHC-US X 47065468 47065468 single base substitution A G missense_variant Q566R 1697A>G LIHC-US X 47065468 47065468 single base substitution A G upstream_gene_variant LIHC-US X 47065756 47065756 single base substitution G A downstream_gene_variant LIHC-US X 47065756 47065756 single base substitution G A exon_variant LIHC-US X 47065756 47065756 single base substitution G A synonymous_variant S617S 1851G>A LIHC-US X 47065756 47065756 single base substitution G A upstream_gene_variant LIHC-US X 47072228 47072228 single base substitution A G missense_variant E319G 956A>G LIHC-US X 47072228 47072228 single base substitution A G missense_variant E871G 2612A>G LIHC-US X 47074244 47074244 single base substitution G A synonymous_variant V1031V 3093G>A LIHC-US X 47074244 47074244 single base substitution G A synonymous_variant V479V 1437G>A LINC-JP X 47050680 47050680 single base substitution A G intron_variant LINC-JP X 47050680 47050680 single base substitution A G upstream_gene_variant LINC-JP X 47057764 47057764 single base substitution A G intron_variant LINC-JP X 47057764 47057764 single base substitution A G upstream_gene_variant LINC-JP X 47063164 47063164 single base substitution G T downstream_gene_variant LINC-JP X 47063164 47063164 single base substitution G T intron_variant LINC-JP X 47063164 47063164 single base substitution G T upstream_gene_variant LINC-JP X 47063165 47063165 single base substitution A T downstream_gene_variant LINC-JP X 47063165 47063165 single base substitution A T intron_variant LINC-JP X 47063165 47063165 single base substitution A T upstream_gene_variant LINC-JP X 47073985 47073985 single base substitution T C missense_variant L445P 1334T>C LINC-JP X 47073985 47073985 single base substitution T C missense_variant L997P 2990T>C LINC-JP X 47073986 47073986 single base substitution C G synonymous_variant L445L 1335C>G LINC-JP X 47073986 47073986 single base substitution C G synonymous_variant L997L 2991C>G LIRI-JP X 47060839 47060839 single base substitution C A downstream_gene_variant LIRI-JP X 47060839 47060839 single base substitution C A intron_variant LIRI-JP X 47060839 47060839 single base substitution C A upstream_gene_variant LIRI-JP X 47060913 47060913 single base substitution C T downstream_gene_variant LIRI-JP X 47060913 47060913 single base substitution C T stop_gained R239* 715C>T LIRI-JP X 47060913 47060913 single base substitution C T stop_gained R253* 757C>T LIRI-JP X 47060913 47060913 single base substitution C T upstream_gene_variant LIRI-JP X 47064432 47064432 single base substitution C T downstream_gene_variant LIRI-JP X 47064432 47064432 single base substitution C T intron_variant LIRI-JP X 47064432 47064432 single base substitution C T upstream_gene_variant LIRI-JP X 47065756 47065756 single base substitution G A downstream_gene_variant LIRI-JP X 47065756 47065756 single base substitution G A exon_variant LIRI-JP X 47065756 47065756 single base substitution G A synonymous_variant S617S 1851G>A LIRI-JP X 47065756 47065756 single base substitution G A upstream_gene_variant LIRI-JP X 47066691 47066691 single base substitution T A downstream_gene_variant LIRI-JP X 47066691 47066691 single base substitution T A intron_variant LIRI-JP X 47066691 47066691 single base substitution T A upstream_gene_variant LUSC-KR X 47053788 47053788 single base substitution C G intron_variant LUSC-KR X 47053788 47053788 single base substitution C G upstream_gene_variant LUSC-KR X 47054679 47054679 single base substitution C G intron_variant LUSC-KR X 47054679 47054679 single base substitution C G upstream_gene_variant LUSC-KR X 47058147 47058147 single base substitution C A intron_variant LUSC-KR X 47058147 47058147 single base substitution C A upstream_gene_variant LUSC-KR X 47078007 47078007 single base substitution C T downstream_gene_variant LUSC-US X 47070251 47070251 single base substitution C T downstream_gene_variant LUSC-US X 47070251 47070251 single base substitution C T missense_variant S185L 554C>T LUSC-US X 47070251 47070251 single base substitution C T missense_variant S737L 2210C>T LUSC-US X 47070573 47070573 single base substitution G C downstream_gene_variant LUSC-US X 47070573 47070573 single base substitution G C missense_variant V253L 757G>C LUSC-US X 47070573 47070573 single base substitution G C missense_variant V805L 2413G>C LUSC-US X 47072255 47072255 single base substitution G A missense_variant R328Q 983G>A LUSC-US X 47072255 47072255 single base substitution G A missense_variant R880Q 2639G>A MALY-DE X 47050821 47050821 single base substitution C A 5_prime_UTR_variant MALY-DE X 47050821 47050821 single base substitution C A intron_variant MALY-DE X 47050821 47050821 single base substitution C A upstream_gene_variant MALY-DE X 47053926 47053926 single base substitution C G intron_variant MALY-DE X 47053926 47053926 single base substitution C G upstream_gene_variant MALY-DE X 47058237 47058237 single base substitution G A synonymous_variant V12V 36G>A MALY-DE X 47058237 47058237 single base substitution G A synonymous_variant V26V 78G>A MALY-DE X 47058237 47058237 single base substitution G A synonymous_variant V63V 189G>A MALY-DE X 47058237 47058237 single base substitution G A upstream_gene_variant MALY-DE X 47058835 47058835 single base substitution T G intron_variant MALY-DE X 47058835 47058835 single base substitution T G upstream_gene_variant MALY-DE X 47074570 47074570 single base substitution G A downstream_gene_variant MALY-DE X 47077890 47077890 single base substitution G T downstream_gene_variant MELA-AU X 47045896 47045896 single base substitution C T upstream_gene_variant MELA-AU X 47046361 47046368 deletion of <=200bp ATGGGGTT - upstream_gene_variant MELA-AU X 47046368 47046368 single base substitution T C upstream_gene_variant MELA-AU X 47046705 47046705 single base substitution C T upstream_gene_variant MELA-AU X 47047482 47047482 single base substitution G A upstream_gene_variant MELA-AU X 47050113 47050113 single base substitution A C upstream_gene_variant MELA-AU X 47050115 47050115 single base substitution C T upstream_gene_variant MELA-AU X 47051178 47051178 single base substitution G A intron_variant MELA-AU X 47051178 47051178 single base substitution G A upstream_gene_variant MELA-AU X 47051369 47051369 single base substitution C T intron_variant MELA-AU X 47051369 47051369 single base substitution C T upstream_gene_variant MELA-AU X 47052872 47052873 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 47052872 47052873 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 47054434 47054434 single base substitution G A intron_variant MELA-AU X 47054434 47054434 single base substitution G A upstream_gene_variant MELA-AU X 47055013 47055013 single base substitution C T intron_variant MELA-AU X 47055013 47055013 single base substitution C T upstream_gene_variant MELA-AU X 47057699 47057699 single base substitution C T intron_variant MELA-AU X 47057699 47057699 single base substitution C T missense_variant S33F 98C>T MELA-AU X 47057699 47057699 single base substitution C T upstream_gene_variant MELA-AU X 47058127 47058127 single base substitution C T intron_variant MELA-AU X 47058127 47058127 single base substitution C T upstream_gene_variant MELA-AU X 47058195 47058195 single base substitution C T splice_region_variant MELA-AU X 47058195 47058195 single base substitution C T upstream_gene_variant MELA-AU X 47058808 47058808 single base substitution C T intron_variant MELA-AU X 47058808 47058808 single base substitution C T upstream_gene_variant MELA-AU X 47058832 47058832 single base substitution C T intron_variant MELA-AU X 47058832 47058832 single base substitution C T upstream_gene_variant MELA-AU X 47059223 47059224 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 47059223 47059224 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 47059223 47059224 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 47060064 47060064 single base substitution C T downstream_gene_variant MELA-AU X 47060064 47060064 single base substitution C T intron_variant MELA-AU X 47060064 47060064 single base substitution C T upstream_gene_variant MELA-AU X 47060431 47060431 single base substitution C T downstream_gene_variant MELA-AU X 47060431 47060431 single base substitution C T intron_variant MELA-AU X 47060431 47060431 single base substitution C T upstream_gene_variant MELA-AU X 47060438 47060438 single base substitution C T downstream_gene_variant MELA-AU X 47060438 47060438 single base substitution C T intron_variant MELA-AU X 47060438 47060438 single base substitution C T upstream_gene_variant MELA-AU X 47060535 47060535 single base substitution C G downstream_gene_variant MELA-AU X 47060535 47060535 single base substitution C G intron_variant MELA-AU X 47060535 47060535 single base substitution C G upstream_gene_variant MELA-AU X 47060816 47060816 single base substitution C T downstream_gene_variant MELA-AU X 47060816 47060816 single base substitution C T intron_variant MELA-AU X 47060816 47060816 single base substitution C T upstream_gene_variant MELA-AU X 47061186 47061187 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 47061186 47061187 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 47061186 47061187 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 47061604 47061604 single base substitution C T downstream_gene_variant MELA-AU X 47061604 47061604 single base substitution C T synonymous_variant I287I 861C>T MELA-AU X 47061604 47061604 single base substitution C T upstream_gene_variant MELA-AU X 47062332 47062332 single base substitution C T downstream_gene_variant MELA-AU X 47062332 47062332 single base substitution C T intron_variant MELA-AU X 47062757 47062757 single base substitution C T downstream_gene_variant MELA-AU X 47062757 47062757 single base substitution C T intron_variant MELA-AU X 47063299 47063299 single base substitution C T downstream_gene_variant MELA-AU X 47063299 47063299 single base substitution C T intron_variant MELA-AU X 47063299 47063299 single base substitution C T upstream_gene_variant MELA-AU X 47064239 47064239 single base substitution C T downstream_gene_variant MELA-AU X 47064239 47064239 single base substitution C T intron_variant MELA-AU X 47064239 47064239 single base substitution C T upstream_gene_variant MELA-AU X 47064397 47064397 single base substitution A G downstream_gene_variant MELA-AU X 47064397 47064397 single base substitution A G intron_variant MELA-AU X 47064397 47064397 single base substitution A G upstream_gene_variant MELA-AU X 47065588 47065588 single base substitution C T downstream_gene_variant MELA-AU X 47065588 47065588 single base substitution C T intron_variant MELA-AU X 47065588 47065588 single base substitution C T upstream_gene_variant MELA-AU X 47065788 47065788 single base substitution C T downstream_gene_variant MELA-AU X 47065788 47065788 single base substitution C T exon_variant MELA-AU X 47065788 47065788 single base substitution C T missense_variant S628F 1883C>T MELA-AU X 47065788 47065788 single base substitution C T upstream_gene_variant MELA-AU X 47066685 47066685 single base substitution G A downstream_gene_variant MELA-AU X 47066685 47066685 single base substitution G A intron_variant MELA-AU X 47066685 47066685 single base substitution G A upstream_gene_variant MELA-AU X 47068505 47068505 single base substitution A C 5_prime_UTR_variant MELA-AU X 47068505 47068505 single base substitution A C downstream_gene_variant MELA-AU X 47068505 47068505 single base substitution A C intron_variant MELA-AU X 47068616 47068616 single base substitution T A 5_prime_UTR_variant MELA-AU X 47068616 47068616 single base substitution T A downstream_gene_variant MELA-AU X 47068616 47068616 single base substitution T A intron_variant MELA-AU X 47069674 47069674 single base substitution C T downstream_gene_variant MELA-AU X 47069674 47069674 single base substitution C T intron_variant MELA-AU X 47070159 47070159 single base substitution C T downstream_gene_variant MELA-AU X 47070159 47070159 single base substitution C T intron_variant MELA-AU X 47070979 47070979 single base substitution C A downstream_gene_variant MELA-AU X 47070979 47070979 single base substitution C A intron_variant MELA-AU X 47071467 47071467 single base substitution T C intron_variant MELA-AU X 47071511 47071511 single base substitution C T intron_variant MELA-AU X 47071598 47071598 single base substitution C T intron_variant MELA-AU X 47071644 47071644 single base substitution C T intron_variant MELA-AU X 47072494 47072494 single base substitution C T stop_gained Q366* 1096C>T MELA-AU X 47072494 47072494 single base substitution C T stop_gained Q918* 2752C>T MELA-AU X 47073091 47073091 single base substitution C T intron_variant MELA-AU X 47073189 47073189 single base substitution C T intron_variant MELA-AU X 47073855 47073855 single base substitution C T intron_variant MELA-AU X 47074122 47074122 single base substitution C T intron_variant MELA-AU X 47074165 47074165 single base substitution C T intron_variant MELA-AU X 47074166 47074166 single base substitution C T intron_variant MELA-AU X 47074331 47074331 single base substitution C T 3_prime_UTR_variant MELA-AU X 47074452 47074452 single base substitution C T 3_prime_UTR_variant MELA-AU X 47074548 47074548 single base substitution C T downstream_gene_variant MELA-AU X 47075709 47075709 single base substitution T G downstream_gene_variant MELA-AU X 47076335 47076335 single base substitution C T downstream_gene_variant MELA-AU X 47077226 47077226 single base substitution C T downstream_gene_variant MELA-AU X 47077333 47077333 single base substitution G T downstream_gene_variant MELA-AU X 47079157 47079157 single base substitution G C downstream_gene_variant ORCA-IN X 47060234 47060234 single base substitution A C downstream_gene_variant ORCA-IN X 47060234 47060234 single base substitution A C intron_variant ORCA-IN X 47060234 47060234 single base substitution A C upstream_gene_variant ORCA-IN X 47062581 47062581 single base substitution C A downstream_gene_variant ORCA-IN X 47062581 47062581 single base substitution C A exon_variant ORCA-IN X 47062581 47062581 single base substitution C A missense_variant Q463K 1387C>A ORCA-IN X 47074286 47074286 single base substitution C A synonymous_variant G1045G 3135C>A ORCA-IN X 47074286 47074286 single base substitution C A synonymous_variant G493G 1479C>A OV-AU X 47065388 47065388 single base substitution G T downstream_gene_variant OV-AU X 47065388 47065388 single base substitution G T intron_variant OV-AU X 47065388 47065388 single base substitution G T missense_variant M539I 1617G>T OV-AU X 47065388 47065388 single base substitution G T upstream_gene_variant OV-AU X 47066337 47066337 single base substitution C T downstream_gene_variant OV-AU X 47066337 47066337 single base substitution C T intron_variant OV-AU X 47066337 47066337 single base substitution C T upstream_gene_variant OV-AU X 47066361 47066361 single base substitution C A downstream_gene_variant OV-AU X 47066361 47066361 single base substitution C A intron_variant OV-AU X 47066361 47066361 single base substitution C A upstream_gene_variant OV-AU X 47079173 47079173 single base substitution G C downstream_gene_variant PACA-AU X 47045667 47045667 single base substitution C T upstream_gene_variant PACA-AU X 47050419 47050419 single base substitution T G intron_variant PACA-AU X 47050419 47050419 single base substitution T G upstream_gene_variant PACA-AU X 47060753 47060753 single base substitution T C downstream_gene_variant PACA-AU X 47060753 47060753 single base substitution T C synonymous_variant S222S 666T>C PACA-AU X 47060753 47060753 single base substitution T C synonymous_variant S236S 708T>C PACA-AU X 47060753 47060753 single base substitution T C upstream_gene_variant PACA-AU X 47067593 47067593 single base substitution C T downstream_gene_variant PACA-AU X 47067593 47067593 single base substitution C T intron_variant PACA-AU X 47067593 47067593 single base substitution C T upstream_gene_variant PACA-AU X 47068458 47068458 single base substitution C T 5_prime_UTR_variant PACA-AU X 47068458 47068458 single base substitution C T downstream_gene_variant PACA-AU X 47068458 47068458 single base substitution C T intron_variant PACA-AU X 47078213 47078213 single base substitution G T downstream_gene_variant PACA-AU X 47078330 47078330 single base substitution T G downstream_gene_variant PACA-CA X 47050297 47050297 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA X 47050297 47050297 single base substitution G A upstream_gene_variant PACA-CA X 47053978 47053978 single base substitution T G intron_variant PACA-CA X 47053978 47053978 single base substitution T G upstream_gene_variant PACA-CA X 47054655 47054655 insertion of <=200bp - T intron_variant PACA-CA X 47054655 47054655 insertion of <=200bp - T upstream_gene_variant PACA-CA X 47061895 47061895 single base substitution C T downstream_gene_variant PACA-CA X 47061895 47061895 single base substitution C T missense_variant R350C 1048C>T PACA-CA X 47061895 47061895 single base substitution C T upstream_gene_variant PACA-CA X 47062943 47062943 single base substitution G A downstream_gene_variant PACA-CA X 47062943 47062943 single base substitution G A exon_variant PACA-CA X 47062943 47062943 single base substitution G A missense_variant G475S 1423G>A PACA-CA X 47065253 47065253 deletion of <=200bp A - downstream_gene_variant PACA-CA X 47065253 47065253 deletion of <=200bp A - intron_variant PACA-CA X 47065253 47065253 deletion of <=200bp A - upstream_gene_variant PACA-CA X 47072745 47072745 single base substitution C T intron_variant PACA-CA X 47075258 47075264 deletion of <=200bp GTCCTTG - downstream_gene_variant PAEN-AU X 47053080 47053080 single base substitution A G intron_variant PAEN-AU X 47053080 47053080 single base substitution A G upstream_gene_variant PAEN-IT X 47051551 47051551 single base substitution T C intron_variant PAEN-IT X 47051551 47051551 single base substitution T C upstream_gene_variant PBCA-DE X 47065690 47065690 single base substitution G A downstream_gene_variant PBCA-DE X 47065690 47065690 single base substitution G A exon_variant PBCA-DE X 47065690 47065690 single base substitution G A synonymous_variant L595L 1785G>A PBCA-DE X 47065690 47065690 single base substitution G A upstream_gene_variant PBCA-DE X 47071371 47071371 single base substitution T C intron_variant PBCA-DE X 47078094 47078094 single base substitution C G downstream_gene_variant PRAD-CA X 47075668 47075668 single base substitution T G downstream_gene_variant PRAD-UK X 47061285 47061285 single base substitution C T downstream_gene_variant PRAD-UK X 47061285 47061285 single base substitution C T intron_variant PRAD-UK X 47061285 47061285 single base substitution C T upstream_gene_variant PRAD-UK X 47063152 47063152 insertion of <=200bp - C downstream_gene_variant PRAD-UK X 47063152 47063152 insertion of <=200bp - C intron_variant PRAD-UK X 47063152 47063152 insertion of <=200bp - C upstream_gene_variant PRAD-US X 47069466 47069466 single base substitution C T downstream_gene_variant PRAD-US X 47069466 47069466 single base substitution C T missense_variant H163Y 487C>T PRAD-US X 47069466 47069466 single base substitution C T missense_variant H715Y 2143C>T READ-US X 47058303 47058303 single base substitution C A synonymous_variant P34P 102C>A READ-US X 47058303 47058303 single base substitution C A synonymous_variant P48P 144C>A READ-US X 47058303 47058303 single base substitution C A synonymous_variant P85P 255C>A READ-US X 47058303 47058303 single base substitution C A upstream_gene_variant READ-US X 47058998 47058998 single base substitution C A downstream_gene_variant READ-US X 47058998 47058998 single base substitution C A missense_variant F155L 465C>A READ-US X 47058998 47058998 single base substitution C A missense_variant F169L 507C>A READ-US X 47058998 47058998 single base substitution C A missense_variant F206L 618C>A READ-US X 47058998 47058998 single base substitution C A upstream_gene_variant RECA-EU X 47054039 47054039 single base substitution G A intron_variant RECA-EU X 47054039 47054039 single base substitution G A upstream_gene_variant RECA-EU X 47062649 47062649 single base substitution T C downstream_gene_variant RECA-EU X 47062649 47062649 single base substitution T C intron_variant RECA-EU X 47077475 47077475 single base substitution G A downstream_gene_variant SKCA-BR X 47053559 47053559 single base substitution A G intron_variant SKCA-BR X 47053559 47053559 single base substitution A G upstream_gene_variant SKCA-BR X 47065585 47065585 single base substitution T G downstream_gene_variant SKCA-BR X 47065585 47065585 single base substitution T G intron_variant SKCA-BR X 47065585 47065585 single base substitution T G upstream_gene_variant SKCA-BR X 47068018 47068018 insertion of <=200bp - AT 5_prime_UTR_variant SKCA-BR X 47068018 47068018 insertion of <=200bp - AT downstream_gene_variant SKCA-BR X 47068018 47068018 insertion of <=200bp - AT intron_variant SKCA-BR X 47076342 47076342 single base substitution G A downstream_gene_variant SKCA-BR X 47077349 47077349 single base substitution G A downstream_gene_variant SKCA-BR X 47077436 47077436 single base substitution A C downstream_gene_variant SKCM-US X 47060944 47060944 single base substitution C T downstream_gene_variant SKCM-US X 47060944 47060944 single base substitution C T missense_variant S249F 746C>T SKCM-US X 47060944 47060944 single base substitution C T missense_variant S263F 788C>T SKCM-US X 47060944 47060944 single base substitution C T upstream_gene_variant SKCM-US X 47065744 47065744 single base substitution C T downstream_gene_variant SKCM-US X 47065744 47065744 single base substitution C T exon_variant SKCM-US X 47065744 47065744 single base substitution C T synonymous_variant F613F 1839C>T SKCM-US X 47065744 47065744 single base substitution C T upstream_gene_variant SKCM-US X 47065788 47065788 single base substitution C T downstream_gene_variant SKCM-US X 47065788 47065788 single base substitution C T exon_variant SKCM-US X 47065788 47065788 single base substitution C T missense_variant S628F 1883C>T SKCM-US X 47065788 47065788 single base substitution C T upstream_gene_variant SKCM-US X 47065792 47065792 single base substitution C T downstream_gene_variant SKCM-US X 47065792 47065792 single base substitution C T exon_variant SKCM-US X 47065792 47065792 single base substitution C T synonymous_variant I629I 1887C>T SKCM-US X 47065792 47065792 single base substitution C T upstream_gene_variant SKCM-US X 47073812 47073812 single base substitution C T synonymous_variant F423F 1269C>T SKCM-US X 47073812 47073812 single base substitution C T synonymous_variant F975F 2925C>T STAD-US X 47045497 47045501 deletion of <=200bp AGAGA - upstream_gene_variant STAD-US X 47045526 47045526 single base substitution A G upstream_gene_variant STAD-US X 47045755 47045755 single base substitution G A upstream_gene_variant STAD-US X 47058955 47058955 single base substitution A C missense_variant Y141S 422A>C STAD-US X 47058955 47058955 single base substitution A C missense_variant Y155S 464A>C STAD-US X 47058955 47058955 single base substitution A C missense_variant Y192S 575A>C STAD-US X 47058955 47058955 single base substitution A C upstream_gene_variant STAD-US X 47060960 47060960 single base substitution G T downstream_gene_variant STAD-US X 47060960 47060960 single base substitution G T missense_variant Q254H 762G>T STAD-US X 47060960 47060960 single base substitution G T missense_variant Q268H 804G>T STAD-US X 47060960 47060960 single base substitution G T upstream_gene_variant STAD-US X 47061547 47061554 deletion of <=200bp CTCTGTAG - downstream_gene_variant STAD-US X 47061547 47061554 deletion of <=200bp CTCTGTAG - splice_acceptor_variant STAD-US X 47061547 47061554 deletion of <=200bp CTCTGTAG - upstream_gene_variant STAD-US X 47061595 47061595 single base substitution C T downstream_gene_variant STAD-US X 47061595 47061595 single base substitution C T synonymous_variant S284S 852C>T STAD-US X 47061595 47061595 single base substitution C T upstream_gene_variant STAD-US X 47062550 47062550 single base substitution C T downstream_gene_variant STAD-US X 47062550 47062550 single base substitution C T exon_variant STAD-US X 47062550 47062550 single base substitution C T synonymous_variant D452D 1356C>T STAD-US X 47065665 47065665 single base substitution G A downstream_gene_variant STAD-US X 47065665 47065665 single base substitution G A exon_variant STAD-US X 47065665 47065665 single base substitution G A missense_variant R587H 1760G>A STAD-US X 47065665 47065665 single base substitution G A upstream_gene_variant UCEC-US X 47045565 47045565 single base substitution C A upstream_gene_variant UCEC-US X 47045663 47045663 single base substitution C T upstream_gene_variant UCEC-US X 47045696 47045696 single base substitution C T upstream_gene_variant UCEC-US X 47045709 47045709 single base substitution C T upstream_gene_variant UCEC-US X 47045764 47045764 single base substitution A G upstream_gene_variant UCEC-US X 47058449 47058449 single base substitution A G splice_region_variant UCEC-US X 47058449 47058449 single base substitution A G upstream_gene_variant UCEC-US X 47060332 47060332 single base substitution C T downstream_gene_variant UCEC-US X 47060332 47060332 single base substitution C T stop_gained R174* 520C>T UCEC-US X 47060332 47060332 single base substitution C T stop_gained R188* 562C>T UCEC-US X 47060332 47060332 single base substitution C T stop_gained R225* 673C>T UCEC-US X 47060332 47060332 single base substitution C T upstream_gene_variant UCEC-US X 47060384 47060384 single base substitution C T downstream_gene_variant UCEC-US X 47060384 47060384 single base substitution C T missense_variant T191M 572C>T UCEC-US X 47060384 47060384 single base substitution C T missense_variant T205M 614C>T UCEC-US X 47060384 47060384 single base substitution C T upstream_gene_variant UCEC-US X 47060743 47060743 single base substitution C T downstream_gene_variant UCEC-US X 47060743 47060743 single base substitution C T missense_variant A219V 656C>T UCEC-US X 47060743 47060743 single base substitution C T missense_variant A233V 698C>T UCEC-US X 47060743 47060743 single base substitution C T upstream_gene_variant UCEC-US X 47060760 47060760 single base substitution A G downstream_gene_variant UCEC-US X 47060760 47060760 single base substitution A G missense_variant T225A 673A>G UCEC-US X 47060760 47060760 single base substitution A G missense_variant T239A 715A>G UCEC-US X 47060760 47060760 single base substitution A G upstream_gene_variant UCEC-US X 47060913 47060913 single base substitution C T downstream_gene_variant UCEC-US X 47060913 47060913 single base substitution C T stop_gained R239* 715C>T UCEC-US X 47060913 47060913 single base substitution C T stop_gained R253* 757C>T UCEC-US X 47060913 47060913 single base substitution C T upstream_gene_variant UCEC-US X 47061878 47061878 single base substitution G A downstream_gene_variant UCEC-US X 47061878 47061878 single base substitution G A missense_variant G344D 1031G>A UCEC-US X 47061878 47061878 single base substitution G A upstream_gene_variant UCEC-US X 47062083 47062083 single base substitution G A downstream_gene_variant UCEC-US X 47062083 47062083 single base substitution G A missense_variant R368Q 1103G>A UCEC-US X 47062083 47062083 single base substitution G A upstream_gene_variant UCEC-US X 47062184 47062184 single base substitution G T downstream_gene_variant UCEC-US X 47062184 47062184 single base substitution G T exon_variant UCEC-US X 47062184 47062184 single base substitution G T missense_variant G402W 1204G>T UCEC-US X 47062426 47062426 single base substitution A G downstream_gene_variant UCEC-US X 47062426 47062426 single base substitution A G exon_variant UCEC-US X 47062426 47062426 single base substitution A G missense_variant T440A 1318A>G UCEC-US X 47062947 47062947 single base substitution C T downstream_gene_variant UCEC-US X 47062947 47062947 single base substitution C T exon_variant UCEC-US X 47062947 47062947 single base substitution C T missense_variant A476V 1427C>T UCEC-US X 47062997 47062997 single base substitution G T downstream_gene_variant UCEC-US X 47062997 47062997 single base substitution G T exon_variant UCEC-US X 47062997 47062997 single base substitution G T missense_variant G493C 1477G>T UCEC-US X 47062997 47062997 single base substitution G T upstream_gene_variant UCEC-US X 47065396 47065396 insertion of <=200bp - TAT disruptive_inframe_insertion H542LY UCEC-US X 47065396 47065396 insertion of <=200bp - TAT downstream_gene_variant UCEC-US X 47065396 47065396 insertion of <=200bp - TAT intron_variant UCEC-US X 47065396 47065396 insertion of <=200bp - TAT upstream_gene_variant UCEC-US X 47068949 47068949 single base substitution T C downstream_gene_variant UCEC-US X 47068949 47068949 single base substitution T C intron_variant UCEC-US X 47068949 47068949 single base substitution T C synonymous_variant G70G 210T>C UCEC-US X 47069479 47069479 single base substitution C T downstream_gene_variant UCEC-US X 47069479 47069479 single base substitution C T missense_variant S167L 500C>T UCEC-US X 47069479 47069479 single base substitution C T missense_variant S719L 2156C>T UCEC-US X 47069480 47069480 single base substitution G A downstream_gene_variant UCEC-US X 47069480 47069480 single base substitution G A synonymous_variant S167S 501G>A UCEC-US X 47069480 47069480 single base substitution G A synonymous_variant S719S 2157G>A UCEC-US X 47072254 47072254 single base substitution C T missense_variant R328W 982C>T UCEC-US X 47072254 47072254 single base substitution C T missense_variant R880W 2638C>T UCEC-US X 47074220 47074220 single base substitution G A synonymous_variant S1023S 3069G>A UCEC-US X 47074220 47074220 single base substitution G A synonymous_variant S471S 1413G>A UCEC-US X 47074236 47074236 single base substitution C T missense_variant R1029C 3085C>T UCEC-US X 47074236 47074236 single base substitution C T missense_variant R477C 1429C>T UCEC-US X 47074323 47074323 single base substitution C A missense_variant R1058S 3172C>A UCEC-US X 47074323 47074323 single base substitution C A missense_variant R506S 1516C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A4-8098-01 COSM3992501 c.1939T>G p.W647G Substitution - Missense 23:47209623-47209623 + HCC078T COSM5806349 c.3082G>T p.G1028C Substitution - Missense 23:47214834-47214834 + PT37 COSM5921959 c.11C>T p.S4L Substitution - Missense 23:47198813-47198813 + SCMC_RM2_ COSM2965708 c.804A>C p.K268N Substitution - Missense 23:47201603-47201603 + PTC-53C COSM4156854 c.2895T>A p.P965P Substitution - coding silent 23:47214383-47214383 + YUOTHO COSM5412709 c.2517C>T p.L839L Substitution - coding silent 23:47212476-47212476 + AOCS-141-3-2 COSM1231515 c.1617G>T p.M539I Substitution - Missense 23:47205989-47205989 + T3151 COSM4738579 c.1563C>T p.P521P Substitution - coding silent 23:47203684-47203684 + TCGA-FV-A495-01 COSM4914424 c.2612A>G p.E871G Substitution - Missense 23:47212829-47212829 + TCGA-A6-6781-01 COSM1468107 c.2413G>A p.V805I Substitution - Missense 23:47211174-47211174 + CSCC-29-T COSM4537154 c.2386G>A p.V796I Substitution - Missense 23:47211147-47211147 + TCGA-AX-A0J0-01 COSM1121745 c.2157G>A p.S719S Substitution - coding silent 23:47210081-47210081 + RKO COSM2965706 c.793A>G p.M265V Substitution - Missense 23:47201592-47201592 + TCGA-CD-A4MG-01 COSM4109624 c.1356C>T p.D452D Substitution - coding silent 23:47203151-47203151 + HCT8 COSM2965684 c.84C>A p.S28S Substitution - coding silent 23:47198886-47198886 + pfg099T COSM4754400 c.962C>T p.A321V Substitution - Missense 23:47202410-47202410 + T2940 COSM4738580 c.3029G>A p.R1010Q Substitution - Missense 23:47214625-47214625 + 2492723 COSM5723301 c.1678T>C p.Y560H Substitution - Missense 23:47206050-47206050 + HCT15 COSM2965684 c.84C>A p.S28S Substitution - coding silent 23:47198886-47198886 + TCGA-BS-A0UF-01 COSM1121732 c.520C>T p.R174* Substitution - Nonsense 23:47200933-47200933 + T1 COSM5617724 c.1340G>A p.R447H Substitution - Missense 23:47203135-47203135 + sysucc-783T COSM5485164 c.1294C>T p.L432F Substitution - Missense 23:47203003-47203003 + TCGA-BH-A18G-01 COSM3844765 c.2259C>A p.T753T Substitution - coding silent 23:47210901-47210901 + TCGA-F4-6570-01 COSM1468105 c.2077C>A p.R693S Substitution - Missense 23:47210001-47210001 + Gp5D COSM2965688 c.179A>C p.Y60S Substitution - Missense 23:47199211-47199211 + HCC2998 COSM2965698 c.453C>T p.L151L Substitution - coding silent 23:47199587-47199587 + TCGA-B5-A11U-01 COSM1121741 c.1318A>G p.T440A Substitution - Missense 23:47203027-47203027 + LC_S11 COSM1190537 c.1465A>T p.M489L Substitution - Missense 23:47203586-47203586 + TCGA-26-5136 COSM2157121 c.2037G>C p.L679L Substitution - coding silent 23:47209961-47209961 + TCGA-22-1011-01 COSM757213 c.2210C>T p.S737L Substitution - Missense 23:47210852-47210852 + TCGA-B5-A11O-01 COSM1121740 c.1207G>T p.G403C Substitution - Missense 23:47202788-47202788 + PD4109a COSM165358 c.2023C>T p.R675* Substitution - Nonsense 23:47209947-47209947 + Au4 COSM5605253 c.861C>T p.I287I Substitution - coding silent 23:47202205-47202205 + TCGA-A7-A0DA-01 COSM457543 c.960C>T p.F320F Substitution - coding silent 23:47202408-47202408 + 1 COSM4169888 c.2096G>C p.R699P Substitution - Missense 23:47210020-47210020 + TCGA-CU-A3YL-01 COSM3800615 c.1288G>A p.E430K Substitution - Missense 23:47202997-47202997 + T3225 COSM252900 c.1427C>T p.A476V Substitution - Missense 23:47203548-47203548 + PD7307a COSM5789021 c.1405C>T p.Q469* Substitution - Nonsense 23:47203200-47203200 + T3225 COSM4738578 c.890T>C p.V297A Substitution - Missense 23:47202234-47202234 + HH14 COSM3728379 c.1089G>T p.Q363H Substitution - Missense 23:47202670-47202670 + 2492721 COSM5723301 c.1678T>C p.Y560H Substitution - Missense 23:47206050-47206050 + TCGA-46-3768-01 COSM757212 c.2413G>C p.V805L Substitution - Missense 23:47211174-47211174 + TCGA-C8-A12P-01 COSM457547 c.2988G>A p.M996I Substitution - Missense 23:47214584-47214584 + RK193_C01 COSM1121736 c.715C>T p.R239* Substitution - Nonsense 23:47201514-47201514 + ESCC_BICR_060T COSM5435205 c.354G>A p.L118L Substitution - coding silent 23:47199488-47199488 + OSCC-GB_01100111 COSM4888402 c.1387C>A p.Q463K Substitution - Missense 23:47203182-47203182 + I2L-P7-Tumor-Organoid COSM5367448 c.548G>A p.G183D Substitution - Missense 23:47200961-47200961 + TCGA-FI-A2EW-01 COSM1121738 c.1103G>A p.R368Q Substitution - Missense 23:47202684-47202684 + SNU-C2B COSM2965751 c.2858C>T p.T953I Substitution - Missense 23:47214346-47214346 + 2492720 COSM5723301 c.1678T>C p.Y560H Substitution - Missense 23:47206050-47206050 + S00831 COSM5660700 c.358G>C p.E120Q Substitution - Missense 23:47199492-47199492 + TCGA-BH-A0W7-01 COSM457542 c.385G>A p.E129K Substitution - Missense 23:47199519-47199519 + TCGA-A8-A0A6-01 COSM3844764 c.1826T>G p.V609G Substitution - Missense 23:47206332-47206332 + ESO-0115 COSM1269602 c.2891A>T p.Q964L Substitution - Missense 23:47214379-47214379 + 2492729 COSM5726628 c.1557C>T p.F519F Substitution - coding silent 23:47203678-47203678 + 12924 COSM5616320 c.1985A>T p.N662I Substitution - Missense 23:47209669-47209669 + TCGA-B0-4852-01 COSM488390 c.1234G>A p.A412T Substitution - Missense 23:47202943-47202943 + TCGA-E2-A154-01 COSM457544 c.1750A>T p.M584L Substitution - Missense 23:47206256-47206256 + 2492722 COSM5723301 c.1678T>C p.Y560H Substitution - Missense 23:47206050-47206050 + TCGA-AA-3821-01 COSM294926 c.1797C>T p.G599G Substitution - coding silent 23:47206303-47206303 + 627LT COSM4381588 c.199A>G p.M67V Substitution - Missense 23:47199231-47199231 + TCGA-CC-A7IG-01 COSM4943063 c.1697A>G p.Q566R Substitution - Missense 23:47206069-47206069 + TCGA-BS-A0UV-01 COSM252900 c.1427C>T p.A476V Substitution - Missense 23:47203548-47203548 + K347 COSM249581 c.1702C>G p.L568V Substitution - Missense 23:47206074-47206074 + TCGA-G4-6315-01 COSM1468108 c.2667G>A p.K889K Substitution - coding silent 23:47213010-47213010 + TCGA-26-5136-01 COSM2157121 c.2037G>C p.L679L Substitution - coding silent 23:47209961-47209961 + C086 COSM5541254 c.1911C>T p.F637F Substitution - coding silent 23:47206417-47206417 + 24T COSM3713906 c.3135C>A p.G1045G Substitution - coding silent 23:47214887-47214887 + LIM2551 COSM4644966 c.206G>A p.R69Q Substitution - Missense 23:47199238-47199238 + RK308_C01 COSM3766957 c.1851G>A p.S617S Substitution - coding silent 23:47206357-47206357 + TCGA-FV-A23B-01 COSM3766957 c.1851G>A p.S617S Substitution - coding silent 23:47206357-47206357 + TCGA-AX-A0J1-01 COSM1121737 c.1031G>A p.G344D Substitution - Missense 23:47202479-47202479 + TCGA-AP-A059-01 COSM1121749 c.3172C>A p.R1058S Substitution - Missense 23:47214924-47214924 + TCGA-FW-A3R5-06 COSM3914012 c.746C>T p.S249F Substitution - Missense 23:47201545-47201545 + TCGA-A6-6781-01 COSM1468109 c.2824G>A p.A942T Substitution - Missense 23:47213167-47213167 + LC_S3 COSM1190536 c.613G>A p.E205K Substitution - Missense 23:47201301-47201301 + 8058339 COSM3390656 c.666T>C p.S222S Substitution - coding silent 23:47201354-47201354 + PT40 COSM5924163 c.177-8C>T p.? Unknown 23:47199201-47199201 + TCGA-D1-A17H-01 COSM1121731 c.120A>G p.G40G Substitution - coding silent 23:47199050-47199050 + HCC18 COSM1625915 c.2990T>C p.L997P Substitution - Missense 23:47214586-47214586 + TCGA-D1-A103-01 COSM1121742 c.1477G>T p.G493C Substitution - Missense 23:47203598-47203598 + TCGA-EI-6507-01 COSM1570156 c.102C>A p.P34P Substitution - coding silent 23:47198904-47198904 + TCGA-EB-A3Y6-01 COSM3561796 c.1839C>T p.F613F Substitution - coding silent 23:47206345-47206345 + ESO-003 COSM1269601 c.2168G>A p.R723Q Substitution - Missense 23:47210092-47210092 + TCGA-GM-A2DD-01 COSM3844763 c.855C>T p.D285D Substitution - coding silent 23:47202199-47202199 + TCGA-AN-A046-01 COSM3844770 c.2851G>A p.E951K Substitution - Missense 23:47214339-47214339 + TCGA-DD-A3A9-01 COSM4920563 c.1228A>G p.M410V Substitution - Missense 23:47202809-47202809 + I2L-P7-Tumor-Organoid COSM5367406 c.2684C>T p.A895V Substitution - Missense 23:47213027-47213027 + sysucc-311T COSM169389 c.1339C>T p.R447C Substitution - Missense 23:47203134-47203134 + TCGA-AC-A23H-01 COSM3844761 c.628G>A p.D210N Substitution - Missense 23:47201316-47201316 + TCGA-61-2012-01 COSM80716 c.1767C>G p.V589V Substitution - coding silent 23:47206273-47206273 + 3N29-VS-3T29 COSM4980520 c.2914C>G p.L972V Substitution - Missense 23:47214402-47214402 + SNU-175 COSM2965721 c.1673G>A p.R558H Substitution - Missense 23:47206045-47206045 + ASHPC_0030_Pa_P COSM4962672 c.1048C>T p.R350C Substitution - Missense 23:47202496-47202496 + sysucc-1128T COSM5469263 c.688G>T p.G230C Substitution - Missense 23:47201487-47201487 + Gp2D COSM2965688 c.179A>C p.Y60S Substitution - Missense 23:47199211-47199211 + TCGA-36-2547-01 COSM1331859 c.3124G>A p.D1042N Substitution - Missense 23:47214876-47214876 + TCGA-UB-A7MB-01 COSM4931465 c.3093G>A p.V1031V Substitution - coding silent 23:47214845-47214845 + TCGA-BG-A0M2-01 COSM1121743 c.1625_1626insTAT p.I543_R544insI Insertion - In frame 23:47205997-47205998 + PDA_012 COSM4998610 c.1552C>G p.L518V Substitution - Missense 23:47203673-47203673 + 627T COSM4381588 c.199A>G p.M67V Substitution - Missense 23:47199231-47199231 + PD4109a COSM165358 c.2023C>T p.R675* Substitution - Nonsense 23:47209947-47209947 + 443 COSM4434801 c.2256C>A p.L752L Substitution - coding silent 23:47210898-47210898 + Pat_74_A COSM5877881 c.2260T>C p.F754L Substitution - Missense 23:47210902-47210902 + PD4109a COSM165358 c.2023C>T p.R675* Substitution - Nonsense 23:47209947-47209947 + ESO-003 COSM1269600 c.962C>G p.A321G Substitution - Missense 23:47202410-47202410 + TCGA-ER-A19P-06 COSM3561799 c.2925C>T p.F975F Substitution - coding silent 23:47214413-47214413 + TCGA-AP-A0LM-01 COSM1121736 c.715C>T p.R239* Substitution - Nonsense 23:47201514-47201514 + TCGA-EE-A2MD-06 COSM3561797 c.1883C>T p.S628F Substitution - Missense 23:47206389-47206389 + TCGA-D8-A1JN-01 COSM3844772 c.3057G>T p.V1019V Substitution - coding silent 23:47214809-47214809 + TCGA-AP-A059-01 COSM1121732 c.520C>T p.R174* Substitution - Nonsense 23:47200933-47200933 + XHDG38 COSM4769932 c.601G>C p.D201H Substitution - Missense 23:47201289-47201289 + TCGA-DS-A0VM-01 COSM462228 c.1428G>C p.A476A Substitution - coding silent 23:47203549-47203549 + TCGA-BR-8680-01 COSM4109625 c.1760G>A p.R587H Substitution - Missense 23:47206266-47206266 + TCGA-A3-3373-01 COSM1497266 c.3007C>T p.P1003S Substitution - Missense 23:47214603-47214603 + TCGA-HU-A4GX-01 COSM4109621 c.762G>T p.Q254H Substitution - Missense 23:47201561-47201561 + NB07C COSM1236556 c.2648G>T p.S883I Substitution - Missense 23:47212991-47212991 + TCGA-13-1408-01 COSM111509 c.520delC p.R174fs*33 Deletion - Frameshift 23:47200933-47200933 + 61 COSM5742256 c.406G>A p.A136T Substitution - Missense 23:47199540-47199540 + PD13771a COSM5800619 c.1012C>T p.Q338* Substitution - Nonsense 23:47202460-47202460 + LUAD_E00522 COSM388772 c.1346A>G p.N449S Substitution - Missense 23:47203141-47203141 + TCGA-60-2723-01 COSM757211 c.2639G>A p.R880Q Substitution - Missense 23:47212856-47212856 + HCC18T COSM1625915 c.2990T>C p.L997P Substitution - Missense 23:47214586-47214586 + 587376 COSM1231515 c.1617G>T p.M539I Substitution - Missense 23:47205989-47205989 + PCSI_0105_Pa_P_526 COSM4962176 c.1423G>A p.G475S Substitution - Missense 23:47203544-47203544 + ESCC_57 COSM5632469 c.3127G>C p.E1043Q Substitution - Missense 23:47214879-47214879 + TCGA-BR-4370-01 COSM4109623 c.852C>T p.S284S Substitution - coding silent 23:47202196-47202196 + TCGA-AP-A051-01 COSM1121734 c.656C>T p.A219V Substitution - Missense 23:47201344-47201344 + HCC25T COSM1625917 c.2991C>G p.L997L Substitution - coding silent 23:47214587-47214587 + TCGA-AR-A24S-01 COSM457543 c.960C>T p.F320F Substitution - coding silent 23:47202408-47202408 + TCGA-EE-A2GC-06 COSM3561798 c.1887C>T p.I629I Substitution - coding silent 23:47206393-47206393 + DN11190 COSM5789021 c.1405C>T p.Q469* Substitution - Nonsense 23:47203200-47203200 + 3N33-VS-3T33 COSM4980927 c.1723C>T p.L575L Substitution - coding silent 23:47206095-47206095 + TCGA-AP-A0LD-01 COSM1121739 c.1204G>T p.G402W Substitution - Missense 23:47202785-47202785 + TCGA-AX-A0J1-01 COSM1121748 c.3085C>T p.R1029C Substitution - Missense 23:47214837-47214837 + TCGA-EI-6881-01 COSM3424801 c.465C>A p.F155L Substitution - Missense 23:47199599-47199599 + LUAD-CHTN-MAD06-00668 COSM360607 c.1332C>T p.C444C Substitution - coding silent 23:47203041-47203041 + 2521262 COSM5892505 c.73C>T p.P25S Substitution - Missense 23:47198875-47198875 + S02139 COSM5674728 c.454G>T p.V152F Substitution - Missense 23:47199588-47199588 + sysucc-834T COSM5486796 c.1808C>T p.T603I Substitution - Missense 23:47206314-47206314 + ESCC_73 COSM5634649 c.2397C>T p.F799F Substitution - coding silent 23:47211158-47211158 + TCGA-F4-6807-01 COSM1468101 c.1001A>T p.Q334L Substitution - Missense 23:47202449-47202449 + C547 COSM4442592 c.2392G>A p.E798K Substitution - Missense 23:47211153-47211153 + OSCC-GB_00240111 COSM3713906 c.3135C>A p.G1045G Substitution - coding silent 23:47214887-47214887 + DN14011 COSM1121736 c.715C>T p.R239* Substitution - Nonsense 23:47201514-47201514 + SNU-175 COSM4109625 c.1760G>A p.R587H Substitution - Missense 23:47206266-47206266 + PD13427a COSM5786686 c.1243G>A p.G415R Substitution - Missense 23:47202952-47202952 + TCGA-AP-A0LM-01 COSM1121735 c.673A>G p.T225A Substitution - Missense 23:47201361-47201361 + TCGA-KK-A59V-01 COSM4878344 c.2143C>T p.H715Y Substitution - Missense 23:47210067-47210067 + TCGA-BR-4368-01 COSM4109618 c.422A>C p.Y141S Substitution - Missense 23:47199556-47199556 + DLD1 COSM2965684 c.84C>A p.S28S Substitution - coding silent 23:47198886-47198886 + CCK81 COSM2965694 c.379C>T p.R127W Substitution - Missense 23:47199513-47199513 + 2290929 COSM4440665 c.2830C>T p.R944C Substitution - Missense 23:47213173-47213173 + TCGA-A8-A0A6-01 COSM3844767 c.2398A>C p.T800P Substitution - Missense 23:47211159-47211159 + TCGA-BS-A0UL-01 COSM1121744 c.2156C>T p.S719L Substitution - Missense 23:47210080-47210080 + PAPNNX COSM5004831 c.370G>A p.G124S Substitution - Missense 23:47199504-47199504 + OV207 COSM252900 c.1427C>T p.A476V Substitution - Missense 23:47203548-47203548 + 2318494 COSM4777224 c.2783A>T p.N928I Substitution - Missense 23:47213126-47213126 + LUAD-NYU1051S COSM369048 c.14C>T p.P5L Substitution - Missense 23:47198816-47198816 + TCGA-B5-A0K9-01 COSM1121730 c.93C>T p.S31S Substitution - coding silent 23:47198895-47198895 + TCGA-BT-A20J-01 COSM422556 c.2052C>T p.P684P Substitution - coding silent 23:47209976-47209976 + HN_62515 COSM128426 c.2688G>A p.T896T Substitution - coding silent 23:47213031-47213031 + SC_9083 COSM5570441 c.2687C>G p.T896R Substitution - Missense 23:47213030-47213030 + PD14459a COSM5773721 c.3090C>T p.H1030H Substitution - coding silent 23:47214842-47214842 + TCGA-AR-A0TX-01 COSM457546 c.2464G>A p.D822N Substitution - Missense 23:47211225-47211225 + PD4181a COSM130454 c.1861A>T p.S621C Substitution - Missense 23:47206367-47206367 + RKO COSM2965749 c.2749C>A p.R917R Substitution - coding silent 23:47213092-47213092 + TCGA-AN-A04D-01 COSM457545 c.2286G>A p.L762L Substitution - coding silent 23:47211047-47211047 + TCGA-DR-A0ZM-01 COSM462227 c.2467G>A p.D823N Substitution - Missense 23:47212426-47212426 + HCC25 COSM1625917 c.2991C>G p.L997L Substitution - coding silent 23:47214587-47214587 + PD6721a COSM4644966 c.206G>A p.R69Q Substitution - Missense 23:47199238-47199238 + TCGA-BS-A0UL-01 COSM1121733 c.572C>T p.T191M Substitution - Missense 23:47200985-47200985 + TCGA-D1-A103-01 COSM1121747 c.3069G>A p.S1023S Substitution - coding silent 23:47214821-47214821 + TCGA-AZ-6598-01 COSM1468109 c.2824G>A p.A942T Substitution - Missense 23:47213167-47213167 + ESCC-060T COSM3940004 c.2879T>C p.V960A Substitution - Missense 23:47214367-47214367 + TCGA-AN-A046-01 COSM128426 c.2688G>A p.T896T Substitution - coding silent 23:47213031-47213031 + TCGA-D1-A103-01 COSM1121746 c.2638C>T p.R880W Substitution - Missense 23:47212855-47212855 + ESCC_BICR_009T COSM5435840 c.117+1G>A p.? Unknown 23:47198920-47198920 + AOCS-141-8-0 COSM1231515 c.1617G>T p.M539I Substitution - Missense 23:47205989-47205989 + TCGA-D8-A27P-01 COSM1490976 c.2952A>G p.K984K Substitution - coding silent 23:47214548-47214548 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.533273 Xp11.23 314370 2434057|CGAP|BC013041|G/T|non-coding||3350|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y141S c.422A>C X 47058955 STAD A G Missense p.D823G c.2468A>G X 47071826 LUAD A G Missense p.T440A c.1318A>G X 47062426 UCEC A G Synonymous p.G40G c.120A>G X 47058449 UCEC A G Synonymous p.K984K c.2952A>G X 47073947 BRCA A T Missense p.M584L c.1750A>T X 47065655 BRCA A T Missense p.N662I c.1985A>T X 47069068 NSCLC A T Missense p.Q964L c.2891A>T X 47073778 ESCA C - Frameshift p.R174Efs*33 c.520delC X 47060332 OV C G Missense p.A321G c.962C>G X 47061809 ESCA C G Synonymous p.L484L c.1452C>G X 47062972 LUAD C G Synonymous p.V589V c.1767C>G X 47065672 OV C T Missense p.P740S c.2218C>T X 47070259 CM C T Missense p.S628F c.1883C>T X 47065788 CM C T Missense p.S719L c.2156C>T X 47069479 UCEC C T Missense p.S737L c.2210C>T X 47070251 LUSC C T Missense p.T191M c.572C>T X 47060384 UCEC C T Nonsense p.R675* c.2023C>T X 47069346 BRCA C T Synonymous p.D1042D c.3126C>T X 47074277 HNSC C T Synonymous p.F320F c.960C>T X 47061807 BRCA C T Synonymous p.F975F c.2925C>T X 47073812 CM C T Synonymous p.I629I c.1887C>T X 47065792 CM C T Synonymous p.L151L c.453C>T X 47058986 MM C T Synonymous p.P684P c.2052C>T X 47069375 BLCA C T Synonymous p.S284S c.852C>T X 47061595 STAD G A 3-UTRSNV . c.3174+145G>A X 47074470 CM G A IntronicSNV . c.1938+46G>A X 47065889 CM G A Missense p.A412T c.1234G>A X 47062342 RCCC G A Missense p.E129K c.385G>A X 47058918 BRCA G A Missense p.M996I c.2988G>A X 47073983 BRCA G A Missense p.R368Q c.1103G>A X 47062083 UCEC G A Missense p.R723Q c.2168G>A X 47069491 ESCA G A Missense p.R880Q c.2639G>A X 47072255 LUSC G A Synonymous p.L762L c.2286G>A X 47070446 BRCA G A Synonymous p.T896T c.2688G>A X 47072430 HNSC G C Missense p.R1032P c.3095G>C X 47074246 CM G C Missense p.V805L c.2413G>C X 47070573 LUSC G C Synonymous p.L679L c.2037G>C X 47069360 GBM G T Missense p.G402W c.1204G>T X 47062184 UCEC G T Missense p.S883I c.2648G>T X 47072390 NB G T Synonymous p.V457V c.1371G>T X 47062565 LUAD T A IntronicSNV . c.1938+299T>A X 47066142 CLL - TAT InFrameInsertion p.H542_I543insY c.1626_1627insTAT X 47065397 UCEC - T IntronicInsertion . c.1938+208dupT X 47066043 STAD