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 1 223971891 223971891 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr1:223971891C>G c.3289G>C c.(3289-3291)Gac>Cac p.D1097H BLCA 1 223971942 223971942 + Missense_Mutation SNP C C A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:223971942C>A c.3238G>T c.(3238-3240)Gat>Tat p.D1080Y BLCA 1 223971951 223971951 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:223971951G>C c.3229C>G c.(3229-3231)Cag>Gag p.Q1077E BLCA 1 223971979 223971979 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:223971979G>A c.3201C>T c.(3199-3201)gtC>gtT p.V1067V BLCA 1 223976731 223976731 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:223976731G>A c.3142C>T c.(3142-3144)Cag>Tag p.Q1048* BLCA 1 223976866 223976866 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr1:223976866G>A c.3007C>T c.(3007-3009)Cat>Tat p.H1003Y BLCA 1 223981037 223981037 + Missense_Mutation SNP C C T TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr1:223981037C>T c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K BLCA 1 223981107 223981107 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr1:223981107C>T c.2760G>A c.(2758-2760)gaG>gaA p.E920E BLCA 1 223983678 223983678 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr1:223983678C>T c.2563G>A c.(2563-2565)Gaa>Aaa p.E855K BLCA 1 223983917 223983917 + Nonsense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr1:223983917G>C c.2324C>G c.(2323-2325)tCa>tGa p.S775* BLCA 1 223983917 223983917 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr1:223983917G>T c.2324C>A c.(2323-2325)tCa>tAa p.S775* BLCA 1 223983926 223983926 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr1:223983926G>C c.2315C>G c.(2314-2316)tCt>tGt p.S772C BLCA 1 223983975 223983975 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:223983975G>A c.2266C>T c.(2266-2268)Cag>Tag p.Q756* BLCA 1 223983999 223983999 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:223983999C>T c.2242G>A c.(2242-2244)Gag>Aag p.E748K BLCA 1 223984139 223984139 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr1:223984139C>T c.2102G>A c.(2101-2103)cGg>cAg p.R701Q BLCA 1 223984287 223984287 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 g.chr1:223984287C>T c.1954G>A c.(1954-1956)Ggt>Agt p.G652S BLCA 1 223986194 223986194 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:223986194C>T c.1671G>A c.(1669-1671)ccG>ccA p.P557P BLCA 1 223987671 223987671 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr1:223987671G>A c.1415C>T c.(1414-1416)tCc>tTc p.S472F BLCA 1 223989853 223989853 + Missense_Mutation SNP G G T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:223989853G>T c.1190C>A c.(1189-1191)cCc>cAc p.P397H BLCA 1 223989881 223989881 + Missense_Mutation SNP C C T TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr1:223989881C>T c.1162G>A c.(1162-1164)Gag>Aag p.E388K BLCA 1 223989919 223989919 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr1:223989919G>A c.1124C>T c.(1123-1125)cCa>cTa p.P375L BLCA 1 223991955 223991955 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 g.chr1:223991955C>T c.570G>A c.(568-570)gaG>gaA p.E190E BLCA 1 223994610 223994610 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr1:223994610G>A c.412C>T c.(412-414)Cag>Tag p.Q138* BLCA 1 224008929 224008929 + Silent SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr1:224008929A>G c.168T>C c.(166-168)tgT>tgC p.C56C BRCA 1 223971901 223971901 + Missense_Mutation SNP G G C TCGA-AR-A24N-01A-11D-A167-09 TCGA-AR-A24N-10A-01D-A167-09 g.chr1:223971901G>C c.3279C>G c.(3277-3279)atC>atG p.I1093M BRCA 1 223983917 223983917 + Nonsense_Mutation SNP G G C TCGA-E9-A5FL-01A-11D-A27P-09 TCGA-E9-A5FL-10A-01D-A27P-09 g.chr1:223983917G>C c.2324C>G c.(2323-2325)tCa>tGa p.S775* BRCA 1 223987695 223987695 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:223987695G>A c.1391C>T c.(1390-1392)tCa>tTa p.S464L BRCA 1 223989890 223989890 + Missense_Mutation SNP G G C TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr1:223989890G>C c.1153C>G c.(1153-1155)Cag>Gag p.Q385E BRCA 1 223990996 223990996 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:223990996C>T c.808G>A c.(808-810)Gat>Aat p.D270N BRCA 1 223991057 223991057 + Missense_Mutation SNP C C G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 g.chr1:223991057C>G c.747G>C c.(745-747)gaG>gaC p.E249D BRCA 1 224002010 224002010 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:224002010C>T c.221G>A c.(220-222)cGa>cAa p.R74Q CESC 1 223971928 223971928 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:223971928C>A c.3252G>T c.(3250-3252)atG>atT p.M1084I CESC 1 223987747 223987747 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr1:223987747C>T c.1339G>A c.(1339-1341)Gat>Aat p.D447N COAD 1 223971971 223971971 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:223971971G>A c.3209C>T c.(3208-3210)gCg>gTg p.A1070V COAD 1 223980131 223980131 + Nonsense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:223980131G>A c.2956C>T c.(2956-2958)Cag>Tag p.Q986* COAD 1 223980219 223980219 + Silent SNP A A G TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr1:223980219A>G c.2868T>C c.(2866-2868)gaT>gaC p.D956D COAD 1 223980219 223980219 + Silent SNP A A G TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr1:223980219A>G c.2868T>C c.(2866-2868)gaT>gaC p.D956D COAD 1 223983937 223983937 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:223983937C>T c.2304G>A c.(2302-2304)atG>atA p.M768I COAD 1 223984042 223984042 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:223984042G>A COAD 1 223986087 223986087 + Missense_Mutation SNP G G T TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr1:223986087G>T c.1778C>A c.(1777-1779)cCc>cAc p.P593H COAD 1 223986098 223986098 + Silent SNP C C A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:223986098C>A c.1767G>T c.(1765-1767)cgG>cgT p.R589R COAD 1 223986354 223986354 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:223986354A>G c.1511T>C c.(1510-1512)gTa>gCa p.V504A COAD 1 223987705 223987705 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:223987705G>A c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C COAD 1 223990007 223990007 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:223990007C>T c.1036G>A c.(1036-1038)Gcc>Acc p.A346T COAD 1 223990992 223990992 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:223990992C>T c.812G>A c.(811-813)cGc>cAc p.R271H COAD 1 223991096 223991096 + Silent SNP C C A TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr1:223991096C>A c.708G>T c.(706-708)ctG>ctT p.L236L COAD 1 223994619 223994619 + Missense_Mutation SNP C C A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:223994619C>A c.403G>T c.(403-405)Gct>Tct p.A135S COAD 1 224001956 224001956 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:224001956delG c.275delC c.(274-276)cctfs p.P92fs COAD 1 224002011 224002011 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:224002011G>A c.220C>T c.(220-222)Cga>Tga p.R74* COAD 1 224002053 224002053 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr1:224002053G>A COADREAD 1 223968574 223968574 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:223968574C>A c.3386G>T c.(3385-3387)aGa>aTa p.R1129I COADREAD 1 223971971 223971971 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:223971971G>A c.3209C>T c.(3208-3210)gCg>gTg p.A1070V COADREAD 1 223976784 223976784 + Missense_Mutation SNP C C A TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr1:223976784C>A c.3089G>T c.(3088-3090)aGt>aTt p.S1030I COADREAD 1 223980131 223980131 + Nonsense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:223980131G>A c.2956C>T c.(2956-2958)Cag>Tag p.Q986* COADREAD 1 223980219 223980219 + Silent SNP A A G TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr1:223980219A>G c.2868T>C c.(2866-2868)gaT>gaC p.D956D COADREAD 1 223980219 223980219 + Silent SNP A A G TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr1:223980219A>G c.2868T>C c.(2866-2868)gaT>gaC p.D956D COADREAD 1 223983937 223983937 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:223983937C>T c.2304G>A c.(2302-2304)atG>atA p.M768I COADREAD 1 223984042 223984042 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:223984042G>A COADREAD 1 223986087 223986087 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr1:223986087G>A c.1778C>T c.(1777-1779)cCc>cTc p.P593L COADREAD 1 223986087 223986087 + Missense_Mutation SNP G G T TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr1:223986087G>T c.1778C>A c.(1777-1779)cCc>cAc p.P593H COADREAD 1 223986098 223986098 + Silent SNP C C A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:223986098C>A c.1767G>T c.(1765-1767)cgG>cgT p.R589R COADREAD 1 223986354 223986354 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:223986354A>G c.1511T>C c.(1510-1512)gTa>gCa p.V504A COADREAD 1 223987705 223987705 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:223987705G>A c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C COADREAD 1 223990007 223990007 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:223990007C>T c.1036G>A c.(1036-1038)Gcc>Acc p.A346T COADREAD 1 223990992 223990992 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:223990992C>T c.812G>A c.(811-813)cGc>cAc p.R271H COADREAD 1 223991096 223991096 + Silent SNP C C A TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr1:223991096C>A c.708G>T c.(706-708)ctG>ctT p.L236L COADREAD 1 223994619 223994619 + Missense_Mutation SNP C C A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:223994619C>A c.403G>T c.(403-405)Gct>Tct p.A135S COADREAD 1 224001956 224001956 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:224001956delG c.275delC c.(274-276)cctfs p.P92fs COADREAD 1 224002011 224002011 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:224002011G>A c.220C>T c.(220-222)Cga>Tga p.R74* COADREAD 1 224002053 224002053 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr1:224002053G>A DLBC 1 223984072 223984072 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:223984072G>A c.2169C>T c.(2167-2169)gaC>gaT p.D723D ESCA 1 223976780 223976780 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr1:223976780G>T c.3093C>A c.(3091-3093)gaC>gaA p.D1031E ESCA 1 223983606 223983606 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr1:223983606G>T c.2635C>A c.(2635-2637)Cca>Aca p.P879T ESCA 1 223986289 223986289 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr1:223986289G>A c.1576C>T c.(1576-1578)Cca>Tca p.P526S ESCA 1 224001971 224001971 + Missense_Mutation SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr1:224001971C>A c.260G>T c.(259-261)cGt>cTt p.R87L GBMLGG 1 223968589 223968589 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:223968589G>T c.3371C>A c.(3370-3372)cCa>cAa p.P1124Q GBMLGG 1 223990463 223990465 + In_Frame_Del DEL CTT CTT - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 g.chr1:223990463_223990465delCTT c.964_966delAAG c.(964-966)aagdel p.K322del HNSC 1 223983857 223983857 + Missense_Mutation SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr1:223983857T>C c.2384A>G c.(2383-2385)aAt>aGt p.N795S HNSC 1 223984046 223984046 + Missense_Mutation SNP G G C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr1:223984046G>C c.2195C>G c.(2194-2196)tCt>tGt p.S732C HNSC 1 223984132 223984132 + Silent SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 g.chr1:223984132G>C c.2109C>G c.(2107-2109)ctC>ctG p.L703L HNSC 1 223987650 223987650 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr1:223987650C>T c.1436G>A c.(1435-1437)gGt>gAt p.G479D HNSC 1 223987709 223987709 + De_novo_Start_OutOfFrame SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr1:223987709T>A HNSC 1 223990037 223990037 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr1:223990037C>T c.1006G>A c.(1006-1008)Gat>Aat p.D336N HNSC 1 223990487 223990487 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr1:223990487C>G c.942G>C c.(940-942)ctG>ctC p.L314L HNSC 1 223991102 223991102 + Silent SNP G G A TCGA-TN-A7HJ-01A-12D-A34J-08 TCGA-TN-A7HJ-10A-01D-A34M-08 g.chr1:223991102G>A c.702C>T c.(700-702)ctC>ctT p.L234L HNSC 1 224001956 224001956 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:224001956delG c.275delC c.(274-276)cctfs p.P92fs HNSC 1 224009053 224009053 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr1:224009053T>C c.44A>G c.(43-45)tAt>tGt p.Y15C KIPAN 1 223983623 223983623 + Missense_Mutation SNP G G A TCGA-BP-4164-01A-02D-1386-10 TCGA-BP-4164-11A-01D-1251-10 g.chr1:223983623G>A c.2618C>T c.(2617-2619)cCt>cTt p.P873L KIPAN 1 223983631 223983631 + Missense_Mutation SNP C C A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr1:223983631C>A c.2610G>T c.(2608-2610)gaG>gaT p.E870D KIPAN 1 223983853 223983853 + Silent SNP T T A TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr1:223983853T>A c.2388A>T c.(2386-2388)ccA>ccT p.P796P KIPAN 1 223983955 223983955 + Silent SNP C C T TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr1:223983955C>T c.2286G>A c.(2284-2286)agG>agA p.R762R KIPAN 1 223984099 223984099 + Silent SNP A A G TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr1:223984099A>G c.2142T>C c.(2140-2142)aaT>aaC p.N714N KIPAN 1 223986157 223986157 + Missense_Mutation SNP G G T TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr1:223986157G>T c.1708C>A c.(1708-1710)Caa>Aaa p.Q570K KIPAN 1 223989924 223989924 + Frame_Shift_Del DEL C C - TCGA-A4-A772-01A-11D-A33Q-10 TCGA-A4-A772-10A-01D-A33Q-10 g.chr1:223989924delC c.1119delG c.(1117-1119)gtgfs p.V373fs KIPAN 1 223994599 223994599 + Silent SNP T T C TCGA-B8-4148-01A-02D-1386-10 TCGA-B8-4148-10A-01D-1251-10 g.chr1:223994599T>C c.423A>G c.(421-423)gcA>gcG p.A141A KIRC 1 223983623 223983623 + Missense_Mutation SNP G G A TCGA-BP-4164-01A-02D-1386-10 TCGA-BP-4164-11A-01D-1251-10 g.chr1:223983623G>A c.2618C>T c.(2617-2619)cCt>cTt p.P873L KIRC 1 223983853 223983853 + Silent SNP T T A TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr1:223983853T>A c.2388A>T c.(2386-2388)ccA>ccT p.P796P KIRC 1 223983955 223983955 + Silent SNP C C T TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr1:223983955C>T c.2286G>A c.(2284-2286)agG>agA p.R762R KIRC 1 223986157 223986157 + Missense_Mutation SNP G G T TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr1:223986157G>T c.1708C>A c.(1708-1710)Caa>Aaa p.Q570K KIRC 1 223994599 223994599 + Silent SNP T T C TCGA-B8-4148-01A-02D-1386-10 TCGA-B8-4148-10A-01D-1251-10 g.chr1:223994599T>C c.423A>G c.(421-423)gcA>gcG p.A141A KIRP 1 223983631 223983631 + Missense_Mutation SNP C C A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr1:223983631C>A c.2610G>T c.(2608-2610)gaG>gaT p.E870D KIRP 1 223984099 223984099 + Silent SNP A A G TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr1:223984099A>G c.2142T>C c.(2140-2142)aaT>aaC p.N714N KIRP 1 223989924 223989924 + Frame_Shift_Del DEL C C - TCGA-A4-A772-01A-11D-A33Q-10 TCGA-A4-A772-10A-01D-A33Q-10 g.chr1:223989924delC c.1119delG c.(1117-1119)gtgfs p.V373fs LGG 1 223968589 223968589 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:223968589G>T c.3371C>A c.(3370-3372)cCa>cAa p.P1124Q LGG 1 223990463 223990465 + In_Frame_Del DEL CTT CTT - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 g.chr1:223990463_223990465delCTT c.964_966delAAG c.(964-966)aagdel p.K322del LIHC 1 223968572 223968572 + Missense_Mutation SNP G G C TCGA-DD-A4NN-01A-11D-A28X-10 TCGA-DD-A4NN-10A-01D-A28X-10 g.chr1:223968572G>C c.3388C>G c.(3388-3390)Caa>Gaa p.Q1130E LIHC 1 223983762 223983762 + Missense_Mutation SNP T T A TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr1:223983762T>A c.2479A>T c.(2479-2481)Agt>Tgt p.S827C LIHC 1 223983912 223983912 + Missense_Mutation SNP G G C TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr1:223983912G>C c.2329C>G c.(2329-2331)Cca>Gca p.P777A LIHC 1 223984262 223984262 + Missense_Mutation SNP T T C TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr1:223984262T>C c.1979A>G c.(1978-1980)cAg>cGg p.Q660R LIHC 1 224002032 224002032 + Nonsense_Mutation SNP G G A TCGA-BC-A216-01A-11D-A152-10 TCGA-BC-A216-11A-11D-A152-10 g.chr1:224002032G>A c.199C>T c.(199-201)Cga>Tga p.R67* LIHC 1 224009040 224009040 + Missense_Mutation SNP A A C TCGA-DD-A73D-01A-12D-A32G-10 TCGA-DD-A73D-10A-01D-A32G-10 g.chr1:224009040A>C c.57T>G c.(55-57)aaT>aaG p.N19K LUAD 1 223983555 223983555 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 g.chr1:223983555G>A c.2686C>T c.(2686-2688)Cgc>Tgc p.R896C LUAD 1 223984286 223984286 + Missense_Mutation SNP C C G TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:223984286C>G c.1955G>C c.(1954-1956)gGt>gCt p.G652A LUAD 1 223985993 223985993 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr1:223985993C>G c.1872G>C c.(1870-1872)gcG>gcC p.A624A LUAD 1 223990466 223990466 + Silent SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr1:223990466C>T c.963G>A c.(961-963)aaG>aaA p.K321K LUAD 1 223990487 223990487 + Silent SNP C C G TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr1:223990487C>G c.942G>C c.(940-942)ctG>ctC p.L314L LUAD 1 223994607 223994607 + Missense_Mutation SNP C C G TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr1:223994607C>G c.415G>C c.(415-417)Gaa>Caa p.E139Q LUSC 1 223989849 223989849 + Silent SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr1:223989849G>A c.1194C>T c.(1192-1194)aaC>aaT p.N398N LUSC 1 224009057 224009057 + Missense_Mutation SNP C C A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chr1:224009057C>A c.40G>T c.(40-42)Gtg>Ttg p.V14L OV 1 223980221 223980221 + Missense_Mutation SNP C C G TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 g.chr1:223980221C>G c.2866G>C c.(2866-2868)Gat>Cat p.D956H OV 1 223986086 223986086 + Silent SNP G G A TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 g.chr1:223986086G>A c.1779C>T c.(1777-1779)ccC>ccT p.P593P OV 1 223990521 223990521 + Missense_Mutation SNP T T C TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 g.chr1:223990521T>C c.908A>G c.(907-909)gAa>gGa p.E303G PAAD 1 223968597 223968597 + Splice_Site SNP C C A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr1:223968597C>A c.e18-1 PAAD 1 223983554 223983554 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:223983554C>T c.2687G>A c.(2686-2688)cGc>cAc p.R896H PAAD 1 223986037 223986037 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr1:223986037C>T c.1828G>A c.(1828-1830)Gtg>Atg p.V610M PRAD 1 223971888 223971888 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr1:223971888C>T c.3292G>A c.(3292-3294)Gaa>Aaa p.E1098K PRAD 1 223980187 223980187 + Missense_Mutation SNP G G A TCGA-KK-A7B3-01A-11D-A33T-08 TCGA-KK-A7B3-11A-21D-A33W-08 g.chr1:223980187G>A c.2900C>T c.(2899-2901)aCg>aTg p.T967M PRAD 1 223985959 223985959 + Frame_Shift_Del DEL C C - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr1:223985959delC c.1906delG c.(1906-1908)gcgfs p.A636fs PRAD 1 223986246 223986246 + Missense_Mutation SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 g.chr1:223986246G>A c.1619C>T c.(1618-1620)tCa>tTa p.S540L PRAD 1 223986326 223986326 + Frame_Shift_Del DEL T T - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 g.chr1:223986326delT c.1539delA c.(1537-1539)aaafs p.K513fs PRAD 1 223991909 223991909 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:223991909C>T c.616G>A c.(616-618)Gtg>Atg p.V206M READ 1 223968574 223968574 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:223968574C>A c.3386G>T c.(3385-3387)aGa>aTa p.R1129I READ 1 223976784 223976784 + Missense_Mutation SNP C C A TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr1:223976784C>A c.3089G>T c.(3088-3090)aGt>aTt p.S1030I READ 1 223986087 223986087 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr1:223986087G>A c.1778C>T c.(1777-1779)cCc>cTc p.P593L SARC 1 223987656 223987656 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr1:223987656G>A c.1430C>T c.(1429-1431)tCc>tTc p.S477F SARC 1 223994597 223994597 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:223994597G>A c.425C>T c.(424-426)tCt>tTt p.S142F SKCM 1 223983600 223983600 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr1:223983600G>A c.2641C>T c.(2641-2643)Cca>Tca p.P881S SKCM 1 223983955 223983955 + Silent SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr1:223983955C>T c.2286G>A c.(2284-2286)agG>agA p.R762R SKCM 1 223984142 223984142 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:223984142G>A c.2099C>T c.(2098-2100)cCt>cTt p.P700L SKCM 1 223984185 223984185 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr1:223984185G>A c.2056C>T c.(2056-2058)Cct>Tct p.P686S SKCM 1 223984229 223984229 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr1:223984229G>A c.2012C>T c.(2011-2013)tCc>tTc p.S671F SKCM 1 223984229 223984229 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr1:223984229G>A c.2012C>T c.(2011-2013)tCc>tTc p.S671F SKCM 1 223986192 223986192 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr1:223986192C>T c.1673G>A c.(1672-1674)aGa>aAa p.R558K SKCM 1 223987607 223987607 + Missense_Mutation SNP A A C TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr1:223987607A>C c.1479T>G c.(1477-1479)gaT>gaG p.D493E SKCM 1 223987610 223987610 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr1:223987610C>T c.1476G>A c.(1474-1476)cgG>cgA p.R492R SKCM 1 223987611 223987611 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr1:223987611C>T c.1475G>A c.(1474-1476)cGg>cAg p.R492Q SKCM 1 223988514 223988514 + Splice_Site SNP T T A TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr1:223988514T>A c.e10-2 SKCM 1 223989873 223989873 + Silent SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr1:223989873C>T c.1170G>A c.(1168-1170)ccG>ccA p.P390P SKCM 1 223990458 223990458 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr1:223990458G>A c.971C>T c.(970-972)gCt>gTt p.A324V SKCM 1 223991036 223991036 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr1:223991036G>A c.768C>T c.(766-768)atC>atT p.I256I SKCM 1 223991102 223991102 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:223991102G>A c.702C>T c.(700-702)ctC>ctT p.L234L SKCM 1 223991885 223991885 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:223991885C>T c.640G>A c.(640-642)Ggg>Agg p.G214R SKCM 1 224002017 224002017 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:224002017G>A c.214C>T c.(214-216)Ctt>Ttt p.L72F SKCM 1 224008965 224008965 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:224008965G>A c.132C>T c.(130-132)ccC>ccT p.P44P SKCM 1 224008966 224008966 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:224008966G>A c.131C>T c.(130-132)cCc>cTc p.P44L SKCM 1 224009059 224009059 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:224009059G>A c.38C>T c.(37-39)aCc>aTc p.T13I

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 223976866 223976866 single base substitution G A 3_prime_UTR_variant BLCA-US 1 223976866 223976866 single base substitution G A exon_variant BLCA-US 1 223976866 223976866 single base substitution G A missense_variant H1003Y 3007C>T BLCA-US 1 223976866 223976866 single base substitution G A missense_variant H236Y 706C>T BLCA-US 1 223976866 223976866 single base substitution G A missense_variant H874Y 2620C>T BLCA-US 1 223983678 223983678 single base substitution C T 3_prime_UTR_variant BLCA-US 1 223983678 223983678 single base substitution C T downstream_gene_variant BLCA-US 1 223983678 223983678 single base substitution C T exon_variant BLCA-US 1 223983678 223983678 single base substitution C T missense_variant E188K 562G>A BLCA-US 1 223983678 223983678 single base substitution C T missense_variant E726K 2176G>A BLCA-US 1 223983678 223983678 single base substitution C T missense_variant E855K 2563G>A BLCA-US 1 223983678 223983678 single base substitution C T missense_variant E88K 262G>A BLCA-US 1 223983917 223983917 single base substitution G T 3_prime_UTR_variant BLCA-US 1 223983917 223983917 single base substitution G T downstream_gene_variant BLCA-US 1 223983917 223983917 single base substitution G T exon_variant BLCA-US 1 223983917 223983917 single base substitution G T intron_variant BLCA-US 1 223983917 223983917 single base substitution G T stop_gained S646* 1937C>A BLCA-US 1 223983917 223983917 single base substitution G T stop_gained S775* 2324C>A BLCA-US 1 223983917 223983917 single base substitution G T stop_gained S8* 23C>A BLCA-US 1 223983926 223983926 single base substitution G C 3_prime_UTR_variant BLCA-US 1 223983926 223983926 single base substitution G C downstream_gene_variant BLCA-US 1 223983926 223983926 single base substitution G C exon_variant BLCA-US 1 223983926 223983926 single base substitution G C intron_variant BLCA-US 1 223983926 223983926 single base substitution G C missense_variant S5C 14C>G BLCA-US 1 223983926 223983926 single base substitution G C missense_variant S643C 1928C>G BLCA-US 1 223983926 223983926 single base substitution G C missense_variant S772C 2315C>G BLCA-US 1 223984139 223984139 single base substitution C T 3_prime_UTR_variant BLCA-US 1 223984139 223984139 single base substitution C T 5_prime_UTR_variant BLCA-US 1 223984139 223984139 single base substitution C T downstream_gene_variant BLCA-US 1 223984139 223984139 single base substitution C T exon_variant BLCA-US 1 223984139 223984139 single base substitution C T intron_variant BLCA-US 1 223984139 223984139 single base substitution C T missense_variant R572Q 1715G>A BLCA-US 1 223984139 223984139 single base substitution C T missense_variant R701Q 2102G>A BLCA-US 1 223984287 223984287 single base substitution C T 5_prime_UTR_variant BLCA-US 1 223984287 223984287 single base substitution C T downstream_gene_variant BLCA-US 1 223984287 223984287 single base substitution C T exon_variant BLCA-US 1 223984287 223984287 single base substitution C T intron_variant BLCA-US 1 223984287 223984287 single base substitution C T missense_variant G523S 1567G>A BLCA-US 1 223984287 223984287 single base substitution C T missense_variant G652S 1954G>A BLCA-US 1 223986194 223986194 single base substitution C T downstream_gene_variant BLCA-US 1 223986194 223986194 single base substitution C T exon_variant BLCA-US 1 223986194 223986194 single base substitution C T intron_variant BLCA-US 1 223986194 223986194 single base substitution C T synonymous_variant P428P 1284G>A BLCA-US 1 223986194 223986194 single base substitution C T synonymous_variant P557P 1671G>A BLCA-US 1 223994610 223994610 single base substitution G A downstream_gene_variant BLCA-US 1 223994610 223994610 single base substitution G A exon_variant BLCA-US 1 223994610 223994610 single base substitution G A stop_gained Q138* 412C>T BLCA-US 1 223994610 223994610 single base substitution G A stop_gained Q71* 211C>T BLCA-US 1 223994610 223994610 single base substitution G A stop_gained Q9* 25C>T BLCA-US 1 223994610 223994610 single base substitution G A upstream_gene_variant BOCA-FR 1 224024471 224024471 single base substitution G C intron_variant BRCA-EU 1 223962675 223962675 single base substitution C T downstream_gene_variant BRCA-EU 1 223963589 223963589 single base substitution G T downstream_gene_variant BRCA-EU 1 223964807 223964808 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 1 223965651 223965651 single base substitution G A downstream_gene_variant BRCA-EU 1 223965934 223965934 single base substitution C G downstream_gene_variant BRCA-EU 1 223970351 223970351 single base substitution C T intron_variant BRCA-EU 1 223972333 223972333 single base substitution G A intron_variant BRCA-EU 1 223977344 223977344 single base substitution G C intron_variant BRCA-EU 1 223977704 223977704 single base substitution G C intron_variant BRCA-EU 1 223979001 223979001 single base substitution T A downstream_gene_variant BRCA-EU 1 223979001 223979001 single base substitution T A intron_variant BRCA-EU 1 223980917 223980917 single base substitution A G downstream_gene_variant BRCA-EU 1 223980917 223980917 single base substitution A G intron_variant BRCA-EU 1 223981292 223981292 single base substitution C T downstream_gene_variant BRCA-EU 1 223981292 223981292 single base substitution C T intron_variant BRCA-EU 1 223983143 223983143 single base substitution G C downstream_gene_variant BRCA-EU 1 223983143 223983143 single base substitution G C intron_variant BRCA-EU 1 223983164 223983164 single base substitution G C downstream_gene_variant BRCA-EU 1 223983164 223983164 single base substitution G C intron_variant BRCA-EU 1 223984242 223984242 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 223984242 223984242 single base substitution C A 5_prime_UTR_variant BRCA-EU 1 223984242 223984242 single base substitution C A downstream_gene_variant BRCA-EU 1 223984242 223984242 single base substitution C A exon_variant BRCA-EU 1 223984242 223984242 single base substitution C A intron_variant BRCA-EU 1 223984242 223984242 single base substitution C A stop_gained E538* 1612G>T BRCA-EU 1 223984242 223984242 single base substitution C A stop_gained E667* 1999G>T BRCA-EU 1 223985271 223985271 single base substitution C T downstream_gene_variant BRCA-EU 1 223985271 223985271 single base substitution C T intron_variant BRCA-EU 1 223985713 223985713 single base substitution C T downstream_gene_variant BRCA-EU 1 223985713 223985713 single base substitution C T intron_variant BRCA-EU 1 223986038 223986038 single base substitution G A downstream_gene_variant BRCA-EU 1 223986038 223986038 single base substitution G A exon_variant BRCA-EU 1 223986038 223986038 single base substitution G A intron_variant BRCA-EU 1 223986038 223986038 single base substitution G A synonymous_variant T480T 1440C>T BRCA-EU 1 223986038 223986038 single base substitution G A synonymous_variant T609T 1827C>T BRCA-EU 1 223986073 223986073 single base substitution C A downstream_gene_variant BRCA-EU 1 223986073 223986073 single base substitution C A exon_variant BRCA-EU 1 223986073 223986073 single base substitution C A intron_variant BRCA-EU 1 223986073 223986073 single base substitution C A missense_variant D469Y 1405G>T BRCA-EU 1 223986073 223986073 single base substitution C A missense_variant D598Y 1792G>T BRCA-EU 1 223988297 223988297 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 223988297 223988297 deletion of <=200bp A - intron_variant BRCA-EU 1 223988940 223988940 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 223988940 223988940 insertion of <=200bp - T intron_variant BRCA-EU 1 223988940 223988940 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 223989104 223989104 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 223989104 223989104 deletion of <=200bp T - intron_variant BRCA-EU 1 223989104 223989104 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 223989420 223989420 single base substitution C T downstream_gene_variant BRCA-EU 1 223989420 223989420 single base substitution C T intron_variant BRCA-EU 1 223989420 223989420 single base substitution C T upstream_gene_variant BRCA-EU 1 223991931 223991931 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K131 BRCA-EU 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K198 BRCA-EU 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K69 BRCA-EU 1 223991931 223991931 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 223992050 223992050 single base substitution C A downstream_gene_variant BRCA-EU 1 223992050 223992050 single base substitution C A splice_region_variant BRCA-EU 1 223992050 223992050 single base substitution C A stop_gained E159* 475G>T BRCA-EU 1 223992050 223992050 single base substitution C A stop_gained E30* 88G>T BRCA-EU 1 223992050 223992050 single base substitution C A stop_gained E92* 274G>T BRCA-EU 1 223992050 223992050 single base substitution C A upstream_gene_variant BRCA-EU 1 223993204 223993204 single base substitution A C downstream_gene_variant BRCA-EU 1 223993204 223993204 single base substitution A C intron_variant BRCA-EU 1 223993204 223993204 single base substitution A C upstream_gene_variant BRCA-EU 1 223994527 223994527 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 223994527 223994527 deletion of <=200bp A - intron_variant BRCA-EU 1 223994527 223994527 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 223995097 223995097 single base substitution A T downstream_gene_variant BRCA-EU 1 223995097 223995097 single base substitution A T intron_variant BRCA-EU 1 223995097 223995097 single base substitution A T upstream_gene_variant BRCA-EU 1 223995878 223995878 single base substitution G C downstream_gene_variant BRCA-EU 1 223995878 223995878 single base substitution G C intron_variant BRCA-EU 1 223995878 223995878 single base substitution G C upstream_gene_variant BRCA-EU 1 223996361 223996361 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 223996361 223996361 deletion of <=200bp A - intron_variant BRCA-EU 1 223996646 223996646 single base substitution A C downstream_gene_variant BRCA-EU 1 223996646 223996646 single base substitution A C intron_variant BRCA-EU 1 223997454 223997454 single base substitution G A downstream_gene_variant BRCA-EU 1 223997454 223997454 single base substitution G A intron_variant BRCA-EU 1 223998207 223998207 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 223998207 223998207 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 223998207 223998207 single base substitution G C downstream_gene_variant BRCA-EU 1 223998207 223998207 single base substitution G C exon_variant BRCA-EU 1 223998207 223998207 single base substitution G C missense_variant P100A 298C>G BRCA-EU 1 223998207 223998207 single base substitution G C missense_variant P33A 97C>G BRCA-EU 1 223998544 223998544 single base substitution T C downstream_gene_variant BRCA-EU 1 223998544 223998544 single base substitution T C intron_variant BRCA-EU 1 223999679 223999679 single base substitution G A downstream_gene_variant BRCA-EU 1 223999679 223999679 single base substitution G A intron_variant BRCA-EU 1 223999914 223999914 single base substitution G C downstream_gene_variant BRCA-EU 1 223999914 223999914 single base substitution G C intron_variant BRCA-EU 1 224000025 224000025 single base substitution C A downstream_gene_variant BRCA-EU 1 224000025 224000025 single base substitution C A intron_variant BRCA-EU 1 224000088 224000088 single base substitution G A downstream_gene_variant BRCA-EU 1 224000088 224000088 single base substitution G A intron_variant BRCA-EU 1 224000183 224000183 single base substitution C A downstream_gene_variant BRCA-EU 1 224000183 224000183 single base substitution C A intron_variant BRCA-EU 1 224000822 224000822 single base substitution C G downstream_gene_variant BRCA-EU 1 224000822 224000822 single base substitution C G intron_variant BRCA-EU 1 224000963 224000963 single base substitution C G downstream_gene_variant BRCA-EU 1 224000963 224000963 single base substitution C G intron_variant BRCA-EU 1 224001168 224001168 single base substitution C T downstream_gene_variant BRCA-EU 1 224001168 224001168 single base substitution C T intron_variant BRCA-EU 1 224001327 224001327 single base substitution C G downstream_gene_variant BRCA-EU 1 224001327 224001327 single base substitution C G intron_variant BRCA-EU 1 224001849 224001849 single base substitution C G downstream_gene_variant BRCA-EU 1 224001849 224001849 single base substitution C G intron_variant BRCA-EU 1 224001982 224001982 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 224001982 224001982 single base substitution G A exon_variant BRCA-EU 1 224001982 224001982 single base substitution G A synonymous_variant R16R 48C>T BRCA-EU 1 224001982 224001982 single base substitution G A synonymous_variant R83R 249C>T BRCA-EU 1 224002259 224002259 single base substitution A G intron_variant BRCA-EU 1 224002259 224002259 single base substitution A G upstream_gene_variant BRCA-EU 1 224004108 224004108 single base substitution A C intron_variant BRCA-EU 1 224004108 224004108 single base substitution A C upstream_gene_variant BRCA-EU 1 224006138 224006138 single base substitution G A intron_variant BRCA-EU 1 224006138 224006138 single base substitution G A upstream_gene_variant BRCA-EU 1 224006280 224006280 single base substitution T A intron_variant BRCA-EU 1 224006280 224006280 single base substitution T A upstream_gene_variant BRCA-EU 1 224006571 224006571 single base substitution G A intron_variant BRCA-EU 1 224006571 224006571 single base substitution G A upstream_gene_variant BRCA-EU 1 224007179 224007179 single base substitution G T intron_variant BRCA-EU 1 224008841 224008841 single base substitution C T intron_variant BRCA-EU 1 224008841 224008841 single base substitution C T upstream_gene_variant BRCA-EU 1 224010923 224010923 single base substitution G A intron_variant BRCA-EU 1 224010923 224010923 single base substitution G A upstream_gene_variant BRCA-EU 1 224011730 224011730 single base substitution C G intron_variant BRCA-EU 1 224011730 224011730 single base substitution C G upstream_gene_variant BRCA-EU 1 224012613 224012613 single base substitution C T intron_variant BRCA-EU 1 224012613 224012613 single base substitution C T upstream_gene_variant BRCA-EU 1 224012684 224012684 single base substitution C T intron_variant BRCA-EU 1 224012684 224012684 single base substitution C T upstream_gene_variant BRCA-EU 1 224013515 224013515 single base substitution A T intron_variant BRCA-EU 1 224013515 224013515 single base substitution A T upstream_gene_variant BRCA-EU 1 224013767 224013767 single base substitution G A exon_variant BRCA-EU 1 224013767 224013767 single base substitution G A intron_variant BRCA-EU 1 224013767 224013767 single base substitution G A upstream_gene_variant BRCA-EU 1 224013954 224013954 single base substitution G A intron_variant BRCA-EU 1 224013954 224013954 single base substitution G A upstream_gene_variant BRCA-EU 1 224014461 224014461 deletion of <=200bp A - intron_variant BRCA-EU 1 224014461 224014461 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 224014894 224014894 single base substitution G A intron_variant BRCA-EU 1 224014894 224014894 single base substitution G A upstream_gene_variant BRCA-EU 1 224015999 224015999 insertion of <=200bp - A intron_variant BRCA-EU 1 224015999 224015999 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 224016207 224016207 single base substitution G A intron_variant BRCA-EU 1 224016207 224016207 single base substitution G A upstream_gene_variant BRCA-EU 1 224016283 224016283 single base substitution G C intron_variant BRCA-EU 1 224016283 224016283 single base substitution G C upstream_gene_variant BRCA-EU 1 224016735 224016735 single base substitution A G intron_variant BRCA-EU 1 224016735 224016735 single base substitution A G upstream_gene_variant BRCA-EU 1 224016795 224016795 single base substitution G C intron_variant BRCA-EU 1 224016795 224016795 single base substitution G C upstream_gene_variant BRCA-EU 1 224017441 224017441 single base substitution A C intron_variant BRCA-EU 1 224017441 224017441 single base substitution A C upstream_gene_variant BRCA-EU 1 224017703 224017703 single base substitution A T intron_variant BRCA-EU 1 224017703 224017703 single base substitution A T upstream_gene_variant BRCA-EU 1 224018153 224018153 single base substitution A C intron_variant BRCA-EU 1 224018153 224018153 single base substitution A C upstream_gene_variant BRCA-EU 1 224021734 224021734 single base substitution A C intron_variant BRCA-EU 1 224022376 224022376 single base substitution G C intron_variant BRCA-EU 1 224023431 224023431 deletion of <=200bp T - intron_variant BRCA-EU 1 224023618 224023618 insertion of <=200bp - A intron_variant BRCA-EU 1 224023756 224023756 single base substitution C T intron_variant BRCA-EU 1 224024866 224024866 single base substitution G C intron_variant BRCA-EU 1 224026459 224026459 single base substitution C T intron_variant BRCA-EU 1 224026550 224026550 single base substitution C T intron_variant BRCA-EU 1 224026574 224026574 single base substitution G A intron_variant BRCA-EU 1 224027093 224027093 single base substitution G C intron_variant BRCA-EU 1 224027219 224027222 deletion of <=200bp ATAA - intron_variant BRCA-EU 1 224027505 224027505 single base substitution C T intron_variant BRCA-EU 1 224027506 224027506 single base substitution G A intron_variant BRCA-EU 1 224028132 224028132 single base substitution G A intron_variant BRCA-EU 1 224032149 224032151 deletion of <=200bp AAT - intron_variant BRCA-EU 1 224032558 224032558 single base substitution A T intron_variant BRCA-EU 1 224032836 224032836 single base substitution G C intron_variant BRCA-EU 1 224033206 224033206 single base substitution A T intron_variant BRCA-EU 1 224033848 224033848 single base substitution C T upstream_gene_variant BRCA-EU 1 224036205 224036205 single base substitution G A upstream_gene_variant BRCA-EU 1 224037279 224037279 single base substitution C T upstream_gene_variant BRCA-EU 1 224037417 224037417 single base substitution G A upstream_gene_variant BRCA-EU 1 224037471 224037471 single base substitution T A upstream_gene_variant BRCA-EU 1 224037675 224037675 single base substitution C T upstream_gene_variant BRCA-EU 1 224037783 224037783 single base substitution A G upstream_gene_variant BRCA-FR 1 223970351 223970351 single base substitution C T intron_variant BRCA-FR 1 223977344 223977344 single base substitution G C intron_variant BRCA-FR 1 223978577 223978577 single base substitution G C downstream_gene_variant BRCA-FR 1 223978577 223978577 single base substitution G C intron_variant BRCA-FR 1 223984242 223984242 single base substitution C A 3_prime_UTR_variant BRCA-FR 1 223984242 223984242 single base substitution C A 5_prime_UTR_variant BRCA-FR 1 223984242 223984242 single base substitution C A downstream_gene_variant BRCA-FR 1 223984242 223984242 single base substitution C A exon_variant BRCA-FR 1 223984242 223984242 single base substitution C A intron_variant BRCA-FR 1 223984242 223984242 single base substitution C A stop_gained E538* 1612G>T BRCA-FR 1 223984242 223984242 single base substitution C A stop_gained E667* 1999G>T BRCA-FR 1 223985713 223985713 single base substitution C T downstream_gene_variant BRCA-FR 1 223985713 223985713 single base substitution C T intron_variant BRCA-FR 1 223988074 223988074 single base substitution A G downstream_gene_variant BRCA-FR 1 223988074 223988074 single base substitution A G intron_variant BRCA-FR 1 224006279 224006279 single base substitution A T intron_variant BRCA-FR 1 224006279 224006279 single base substitution A T upstream_gene_variant BRCA-FR 1 224013954 224013954 single base substitution G A intron_variant BRCA-FR 1 224013954 224013954 single base substitution G A upstream_gene_variant BRCA-FR 1 224016283 224016283 single base substitution G C intron_variant BRCA-FR 1 224016283 224016283 single base substitution G C upstream_gene_variant BRCA-FR 1 224016795 224016795 single base substitution G C intron_variant BRCA-FR 1 224016795 224016795 single base substitution G C upstream_gene_variant BRCA-FR 1 224021734 224021734 single base substitution A C intron_variant BRCA-UK 1 223964361 223964361 single base substitution T G downstream_gene_variant BRCA-UK 1 223984013 223984013 single base substitution G C 3_prime_UTR_variant BRCA-UK 1 223984013 223984013 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 1 223984013 223984013 single base substitution G C downstream_gene_variant BRCA-UK 1 223984013 223984013 single base substitution G C exon_variant BRCA-UK 1 223984013 223984013 single base substitution G C intron_variant BRCA-UK 1 223984013 223984013 single base substitution G C missense_variant S614C 1841C>G BRCA-UK 1 223984013 223984013 single base substitution G C missense_variant S743C 2228C>G BRCA-UK 1 224000025 224000025 single base substitution C A downstream_gene_variant BRCA-UK 1 224000025 224000025 single base substitution C A intron_variant BRCA-UK 1 224006031 224006031 single base substitution C A 5_prime_UTR_variant BRCA-UK 1 224006031 224006031 single base substitution C A intron_variant BRCA-UK 1 224006031 224006031 single base substitution C A upstream_gene_variant BRCA-UK 1 224011730 224011730 single base substitution C G intron_variant BRCA-UK 1 224011730 224011730 single base substitution C G upstream_gene_variant BRCA-UK 1 224027639 224027639 single base substitution C T intron_variant BRCA-US 1 223962929 223962929 single base substitution G A downstream_gene_variant BRCA-US 1 223971901 223971901 single base substitution G C 3_prime_UTR_variant BRCA-US 1 223971901 223971901 single base substitution G C exon_variant BRCA-US 1 223971901 223971901 single base substitution G C missense_variant I1093M 3279C>G BRCA-US 1 223971901 223971901 single base substitution G C missense_variant I326M 978C>G BRCA-US 1 223971901 223971901 single base substitution G C missense_variant I964M 2892C>G BRCA-US 1 223983917 223983917 single base substitution G C 3_prime_UTR_variant BRCA-US 1 223983917 223983917 single base substitution G C downstream_gene_variant BRCA-US 1 223983917 223983917 single base substitution G C exon_variant BRCA-US 1 223983917 223983917 single base substitution G C intron_variant BRCA-US 1 223983917 223983917 single base substitution G C stop_gained S646* 1937C>G BRCA-US 1 223983917 223983917 single base substitution G C stop_gained S775* 2324C>G BRCA-US 1 223983917 223983917 single base substitution G C stop_gained S8* 23C>G BRCA-US 1 223987695 223987695 single base substitution G A 5_prime_UTR_variant BRCA-US 1 223987695 223987695 single base substitution G A downstream_gene_variant BRCA-US 1 223987695 223987695 single base substitution G A exon_variant BRCA-US 1 223987695 223987695 single base substitution G A intron_variant BRCA-US 1 223987695 223987695 single base substitution G A missense_variant S335L 1004C>T BRCA-US 1 223987695 223987695 single base substitution G A missense_variant S464L 1391C>T BRCA-US 1 223989890 223989890 single base substitution G C downstream_gene_variant BRCA-US 1 223989890 223989890 single base substitution G C exon_variant BRCA-US 1 223989890 223989890 single base substitution G C intron_variant BRCA-US 1 223989890 223989890 single base substitution G C missense_variant Q256E 766C>G BRCA-US 1 223989890 223989890 single base substitution G C missense_variant Q385E 1153C>G BRCA-US 1 223989890 223989890 single base substitution G C upstream_gene_variant BRCA-US 1 223990996 223990996 single base substitution C T downstream_gene_variant BRCA-US 1 223990996 223990996 single base substitution C T exon_variant BRCA-US 1 223990996 223990996 single base substitution C T intron_variant BRCA-US 1 223990996 223990996 single base substitution C T missense_variant D141N 421G>A BRCA-US 1 223990996 223990996 single base substitution C T missense_variant D270N 808G>A BRCA-US 1 223990996 223990996 single base substitution C T upstream_gene_variant BRCA-US 1 223991057 223991057 single base substitution C G downstream_gene_variant BRCA-US 1 223991057 223991057 single base substitution C G intron_variant BRCA-US 1 223991057 223991057 single base substitution C G missense_variant E120D 360G>C BRCA-US 1 223991057 223991057 single base substitution C G missense_variant E249D 747G>C BRCA-US 1 223991057 223991057 single base substitution C G upstream_gene_variant BRCA-US 1 224002010 224002010 single base substitution C T 5_prime_UTR_variant BRCA-US 1 224002010 224002010 single base substitution C T exon_variant BRCA-US 1 224002010 224002010 single base substitution C T missense_variant R74Q 221G>A BRCA-US 1 224002010 224002010 single base substitution C T missense_variant R7Q 20G>A BTCA-JP 1 223981070 223981070 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 1 223981070 223981070 deletion of <=200bp G - downstream_gene_variant BTCA-JP 1 223981070 223981070 deletion of <=200bp G - exon_variant BTCA-JP 1 223981070 223981070 deletion of <=200bp G - frameshift_variant L166 BTCA-JP 1 223981070 223981070 deletion of <=200bp G - frameshift_variant L804 BTCA-JP 1 223981070 223981070 deletion of <=200bp G - frameshift_variant L933 BTCA-JP 1 223984317 223984317 single base substitution G A downstream_gene_variant BTCA-JP 1 223984317 223984317 single base substitution G A intron_variant BTCA-JP 1 223984318 223984318 single base substitution C G downstream_gene_variant BTCA-JP 1 223984318 223984318 single base substitution C G intron_variant BTCA-JP 1 223987758 223987758 deletion of <=200bp A - downstream_gene_variant BTCA-JP 1 223987758 223987758 deletion of <=200bp A - intron_variant CESC-US 1 223971928 223971928 single base substitution C A 3_prime_UTR_variant CESC-US 1 223971928 223971928 single base substitution C A exon_variant CESC-US 1 223971928 223971928 single base substitution C A missense_variant M1084I 3252G>T CESC-US 1 223971928 223971928 single base substitution C A missense_variant M317I 951G>T CESC-US 1 223971928 223971928 single base substitution C A missense_variant M955I 2865G>T CESC-US 1 223987747 223987747 single base substitution C T downstream_gene_variant CESC-US 1 223987747 223987747 single base substitution C T intron_variant CESC-US 1 223987747 223987747 single base substitution C T missense_variant D318N 952G>A CESC-US 1 223987747 223987747 single base substitution C T missense_variant D447N 1339G>A CESC-US 1 223987747 223987747 single base substitution C T splice_region_variant CLLE-ES 1 223967952 223967952 single base substitution C T 3_prime_UTR_variant CLLE-ES 1 223967952 223967952 single base substitution C T downstream_gene_variant CLLE-ES 1 223969940 223969940 single base substitution T C intron_variant CLLE-ES 1 223974282 223974283 deletion of <=200bp GC - intron_variant COAD-US 1 223980131 223980131 single base substitution G A 3_prime_UTR_variant COAD-US 1 223980131 223980131 single base substitution G A downstream_gene_variant COAD-US 1 223980131 223980131 single base substitution G A exon_variant COAD-US 1 223980131 223980131 single base substitution G A stop_gained Q219* 655C>T COAD-US 1 223980131 223980131 single base substitution G A stop_gained Q857* 2569C>T COAD-US 1 223980131 223980131 single base substitution G A stop_gained Q986* 2956C>T COAD-US 1 223990007 223990007 single base substitution C T downstream_gene_variant COAD-US 1 223990007 223990007 single base substitution C T exon_variant COAD-US 1 223990007 223990007 single base substitution C T intron_variant COAD-US 1 223990007 223990007 single base substitution C T missense_variant A217T 649G>A COAD-US 1 223990007 223990007 single base substitution C T missense_variant A346T 1036G>A COAD-US 1 223990007 223990007 single base substitution C T upstream_gene_variant COAD-US 1 223990992 223990992 single base substitution C T downstream_gene_variant COAD-US 1 223990992 223990992 single base substitution C T exon_variant COAD-US 1 223990992 223990992 single base substitution C T intron_variant COAD-US 1 223990992 223990992 single base substitution C T missense_variant R142H 425G>A COAD-US 1 223990992 223990992 single base substitution C T missense_variant R271H 812G>A COAD-US 1 223990992 223990992 single base substitution C T upstream_gene_variant COAD-US 1 223991096 223991096 single base substitution C A downstream_gene_variant COAD-US 1 223991096 223991096 single base substitution C A intron_variant COAD-US 1 223991096 223991096 single base substitution C A synonymous_variant L107L 321G>T COAD-US 1 223991096 223991096 single base substitution C A synonymous_variant L236L 708G>T COAD-US 1 223991096 223991096 single base substitution C A upstream_gene_variant COAD-US 1 223991119 223991119 single base substitution G T downstream_gene_variant COAD-US 1 223991119 223991119 single base substitution G T intron_variant COAD-US 1 223991119 223991119 single base substitution G T missense_variant Q100K 298C>A COAD-US 1 223991119 223991119 single base substitution G T missense_variant Q229K 685C>A COAD-US 1 223991119 223991119 single base substitution G T upstream_gene_variant COAD-US 1 223994619 223994619 single base substitution C A downstream_gene_variant COAD-US 1 223994619 223994619 single base substitution C A exon_variant COAD-US 1 223994619 223994619 single base substitution C A missense_variant A135S 403G>T COAD-US 1 223994619 223994619 single base substitution C A missense_variant A68S 202G>T COAD-US 1 223994619 223994619 single base substitution C A missense_variant A6S 16G>T COAD-US 1 223994619 223994619 single base substitution C A upstream_gene_variant COAD-US 1 224001956 224001956 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 1 224001956 224001956 deletion of <=200bp G - exon_variant COAD-US 1 224001956 224001956 deletion of <=200bp G - frameshift_variant P25 COAD-US 1 224001956 224001956 deletion of <=200bp G - frameshift_variant P92 COAD-US 1 224002011 224002011 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 1 224002011 224002011 single base substitution G A exon_variant COAD-US 1 224002011 224002011 single base substitution G A stop_gained R7* 19C>T COAD-US 1 224002011 224002011 single base substitution G A stop_gained R74* 220C>T COCA-CN 1 223971863 223971863 single base substitution G A 3_prime_UTR_variant COCA-CN 1 223971863 223971863 single base substitution G A exon_variant COCA-CN 1 223971863 223971863 single base substitution G A missense_variant A1106V 3317C>T COCA-CN 1 223971863 223971863 single base substitution G A missense_variant A339V 1016C>T COCA-CN 1 223971863 223971863 single base substitution G A missense_variant A977V 2930C>T COCA-CN 1 223984092 223984092 single base substitution G A 3_prime_UTR_variant COCA-CN 1 223984092 223984092 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 1 223984092 223984092 single base substitution G A downstream_gene_variant COCA-CN 1 223984092 223984092 single base substitution G A exon_variant COCA-CN 1 223984092 223984092 single base substitution G A intron_variant COCA-CN 1 223984092 223984092 single base substitution G A stop_gained R588* 1762C>T COCA-CN 1 223984092 223984092 single base substitution G A stop_gained R717* 2149C>T COCA-CN 1 223990993 223990993 single base substitution G A downstream_gene_variant COCA-CN 1 223990993 223990993 single base substitution G A exon_variant COCA-CN 1 223990993 223990993 single base substitution G A intron_variant COCA-CN 1 223990993 223990993 single base substitution G A missense_variant R142C 424C>T COCA-CN 1 223990993 223990993 single base substitution G A missense_variant R271C 811C>T COCA-CN 1 223990993 223990993 single base substitution G A upstream_gene_variant COCA-CN 1 223991264 223991264 single base substitution T G downstream_gene_variant COCA-CN 1 223991264 223991264 single base substitution T G intron_variant COCA-CN 1 223991264 223991264 single base substitution T G upstream_gene_variant COCA-CN 1 224001899 224001899 single base substitution T C exon_variant COCA-CN 1 224001899 224001899 single base substitution T C intron_variant COCA-CN 1 224009286 224009286 single base substitution T C intron_variant COCA-CN 1 224009286 224009286 single base substitution T C upstream_gene_variant EOPC-DE 1 223986285 223986285 single base substitution G A downstream_gene_variant EOPC-DE 1 223986285 223986285 single base substitution G A exon_variant EOPC-DE 1 223986285 223986285 single base substitution G A intron_variant EOPC-DE 1 223986285 223986285 single base substitution G A missense_variant P398L 1193C>T EOPC-DE 1 223986285 223986285 single base substitution G A missense_variant P527L 1580C>T EOPC-DE 1 224033546 224033546 single base substitution G A 5_prime_UTR_variant EOPC-DE 1 224033546 224033546 single base substitution G A upstream_gene_variant ESAD-UK 1 223965752 223965752 single base substitution A T downstream_gene_variant ESAD-UK 1 223966160 223966160 single base substitution C T downstream_gene_variant ESAD-UK 1 223966335 223966335 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 223967517 223967517 single base substitution A C downstream_gene_variant ESAD-UK 1 223969418 223969418 insertion of <=200bp - A intron_variant ESAD-UK 1 223970407 223970407 single base substitution G T intron_variant ESAD-UK 1 223971613 223971613 single base substitution C A intron_variant ESAD-UK 1 223974321 223974321 single base substitution T C intron_variant ESAD-UK 1 223974538 223974538 single base substitution G C intron_variant ESAD-UK 1 223975284 223975284 single base substitution A G intron_variant ESAD-UK 1 223977189 223977189 single base substitution G T intron_variant ESAD-UK 1 223978163 223978163 single base substitution G T intron_variant ESAD-UK 1 223981123 223981123 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 223981123 223981123 single base substitution C T downstream_gene_variant ESAD-UK 1 223981123 223981123 single base substitution C T exon_variant ESAD-UK 1 223981123 223981123 single base substitution C T missense_variant R148H 443G>A ESAD-UK 1 223981123 223981123 single base substitution C T missense_variant R786H 2357G>A ESAD-UK 1 223981123 223981123 single base substitution C T missense_variant R915H 2744G>A ESAD-UK 1 223982639 223982639 single base substitution T A downstream_gene_variant ESAD-UK 1 223982639 223982639 single base substitution T A intron_variant ESAD-UK 1 223985333 223985333 single base substitution G A downstream_gene_variant ESAD-UK 1 223985333 223985333 single base substitution G A intron_variant ESAD-UK 1 223988414 223988414 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 223988414 223988414 single base substitution C T downstream_gene_variant ESAD-UK 1 223988414 223988414 single base substitution C T exon_variant ESAD-UK 1 223988414 223988414 single base substitution C T intron_variant ESAD-UK 1 223988414 223988414 single base substitution C T missense_variant A313T 937G>A ESAD-UK 1 223988414 223988414 single base substitution C T missense_variant A442T 1324G>A ESAD-UK 1 223995424 223995424 single base substitution G A downstream_gene_variant ESAD-UK 1 223995424 223995424 single base substitution G A intron_variant ESAD-UK 1 223995424 223995424 single base substitution G A upstream_gene_variant ESAD-UK 1 223998026 223998026 single base substitution C T downstream_gene_variant ESAD-UK 1 223998026 223998026 single base substitution C T intron_variant ESAD-UK 1 224002199 224002199 single base substitution G A intron_variant ESAD-UK 1 224002199 224002199 single base substitution G A upstream_gene_variant ESAD-UK 1 224002532 224002532 single base substitution A T intron_variant ESAD-UK 1 224002532 224002532 single base substitution A T upstream_gene_variant ESAD-UK 1 224002542 224002542 single base substitution A T intron_variant ESAD-UK 1 224002542 224002542 single base substitution A T upstream_gene_variant ESAD-UK 1 224006561 224006561 single base substitution G A intron_variant ESAD-UK 1 224006561 224006561 single base substitution G A upstream_gene_variant ESAD-UK 1 224006575 224006575 single base substitution C G intron_variant ESAD-UK 1 224006575 224006575 single base substitution C G upstream_gene_variant ESAD-UK 1 224007332 224007332 single base substitution G A intron_variant ESAD-UK 1 224008153 224008154 deletion of <=200bp AA - intron_variant ESAD-UK 1 224009087 224009087 single base substitution A C intron_variant ESAD-UK 1 224009087 224009087 single base substitution A C upstream_gene_variant ESAD-UK 1 224014461 224014461 deletion of <=200bp A - intron_variant ESAD-UK 1 224014461 224014461 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 224015108 224015108 single base substitution C T intron_variant ESAD-UK 1 224015108 224015108 single base substitution C T upstream_gene_variant ESAD-UK 1 224016695 224016695 single base substitution A T intron_variant ESAD-UK 1 224016695 224016695 single base substitution A T upstream_gene_variant ESAD-UK 1 224017945 224017945 single base substitution A G intron_variant ESAD-UK 1 224017945 224017945 single base substitution A G upstream_gene_variant ESAD-UK 1 224018523 224018523 single base substitution G A intron_variant ESAD-UK 1 224018523 224018523 single base substitution G A upstream_gene_variant ESAD-UK 1 224020917 224020917 single base substitution A C intron_variant ESAD-UK 1 224021999 224021999 single base substitution G T intron_variant ESAD-UK 1 224023048 224023048 single base substitution C T intron_variant ESAD-UK 1 224024857 224024857 single base substitution A G intron_variant ESAD-UK 1 224026421 224026421 single base substitution C G intron_variant ESAD-UK 1 224028816 224028816 single base substitution T A intron_variant ESAD-UK 1 224030960 224030960 single base substitution C T intron_variant ESAD-UK 1 224035054 224035054 single base substitution G A upstream_gene_variant ESAD-UK 1 224035538 224035538 single base substitution C T upstream_gene_variant ESAD-UK 1 224036715 224036715 single base substitution G A upstream_gene_variant ESAD-UK 1 224038061 224038061 single base substitution G A upstream_gene_variant ESAD-UK 1 224038243 224038243 single base substitution C A upstream_gene_variant ESCA-CN 1 223986100 223986100 single base substitution G A downstream_gene_variant ESCA-CN 1 223986100 223986100 single base substitution G A exon_variant ESCA-CN 1 223986100 223986100 single base substitution G A intron_variant ESCA-CN 1 223986100 223986100 single base substitution G A missense_variant R460W 1378C>T ESCA-CN 1 223986100 223986100 single base substitution G A missense_variant R589W 1765C>T GACA-CN 1 223983626 223983626 single base substitution T G 3_prime_UTR_variant GACA-CN 1 223983626 223983626 single base substitution T G downstream_gene_variant GACA-CN 1 223983626 223983626 single base substitution T G exon_variant GACA-CN 1 223983626 223983626 single base substitution T G missense_variant Y105S 314A>C GACA-CN 1 223983626 223983626 single base substitution T G missense_variant Y205S 614A>C GACA-CN 1 223983626 223983626 single base substitution T G missense_variant Y743S 2228A>C GACA-CN 1 223983626 223983626 single base substitution T G missense_variant Y872S 2615A>C KIRC-US 1 223983623 223983623 single base substitution G A 3_prime_UTR_variant KIRC-US 1 223983623 223983623 single base substitution G A downstream_gene_variant KIRC-US 1 223983623 223983623 single base substitution G A exon_variant KIRC-US 1 223983623 223983623 single base substitution G A missense_variant P106L 317C>T KIRC-US 1 223983623 223983623 single base substitution G A missense_variant P206L 617C>T KIRC-US 1 223983623 223983623 single base substitution G A missense_variant P744L 2231C>T KIRC-US 1 223983623 223983623 single base substitution G A missense_variant P873L 2618C>T KIRC-US 1 223983853 223983853 single base substitution T A 3_prime_UTR_variant KIRC-US 1 223983853 223983853 single base substitution T A downstream_gene_variant KIRC-US 1 223983853 223983853 single base substitution T A exon_variant KIRC-US 1 223983853 223983853 single base substitution T A intron_variant KIRC-US 1 223983853 223983853 single base substitution T A synonymous_variant P29P 87A>T KIRC-US 1 223983853 223983853 single base substitution T A synonymous_variant P667P 2001A>T KIRC-US 1 223983853 223983853 single base substitution T A synonymous_variant P796P 2388A>T KIRC-US 1 223983955 223983955 single base substitution C T 3_prime_UTR_variant KIRC-US 1 223983955 223983955 single base substitution C T 5_prime_UTR_variant KIRC-US 1 223983955 223983955 single base substitution C T downstream_gene_variant KIRC-US 1 223983955 223983955 single base substitution C T exon_variant KIRC-US 1 223983955 223983955 single base substitution C T intron_variant KIRC-US 1 223983955 223983955 single base substitution C T synonymous_variant R633R 1899G>A KIRC-US 1 223983955 223983955 single base substitution C T synonymous_variant R762R 2286G>A KIRC-US 1 223986157 223986157 single base substitution G T downstream_gene_variant KIRC-US 1 223986157 223986157 single base substitution G T exon_variant KIRC-US 1 223986157 223986157 single base substitution G T intron_variant KIRC-US 1 223986157 223986157 single base substitution G T missense_variant Q441K 1321C>A KIRC-US 1 223986157 223986157 single base substitution G T missense_variant Q570K 1708C>A KIRC-US 1 223994599 223994599 single base substitution T C downstream_gene_variant KIRC-US 1 223994599 223994599 single base substitution T C exon_variant KIRC-US 1 223994599 223994599 single base substitution T C synonymous_variant A12A 36A>G KIRC-US 1 223994599 223994599 single base substitution T C synonymous_variant A141A 423A>G KIRC-US 1 223994599 223994599 single base substitution T C synonymous_variant A74A 222A>G KIRC-US 1 223994599 223994599 single base substitution T C upstream_gene_variant KIRP-US 1 223983631 223983631 single base substitution C A 3_prime_UTR_variant KIRP-US 1 223983631 223983631 single base substitution C A downstream_gene_variant KIRP-US 1 223983631 223983631 single base substitution C A exon_variant KIRP-US 1 223983631 223983631 single base substitution C A missense_variant E103D 309G>T KIRP-US 1 223983631 223983631 single base substitution C A missense_variant E203D 609G>T KIRP-US 1 223983631 223983631 single base substitution C A missense_variant E741D 2223G>T KIRP-US 1 223983631 223983631 single base substitution C A missense_variant E870D 2610G>T KIRP-US 1 223984099 223984099 single base substitution A G 3_prime_UTR_variant KIRP-US 1 223984099 223984099 single base substitution A G 5_prime_UTR_variant KIRP-US 1 223984099 223984099 single base substitution A G downstream_gene_variant KIRP-US 1 223984099 223984099 single base substitution A G exon_variant KIRP-US 1 223984099 223984099 single base substitution A G intron_variant KIRP-US 1 223984099 223984099 single base substitution A G synonymous_variant N585N 1755T>C KIRP-US 1 223984099 223984099 single base substitution A G synonymous_variant N714N 2142T>C LAML-KR 1 223980118 223980118 single base substitution T G 3_prime_UTR_variant LAML-KR 1 223980118 223980118 single base substitution T G downstream_gene_variant LAML-KR 1 223980118 223980118 single base substitution T G exon_variant LAML-KR 1 223980118 223980118 single base substitution T G missense_variant N223T 668A>C LAML-KR 1 223980118 223980118 single base substitution T G missense_variant N861T 2582A>C LAML-KR 1 223980118 223980118 single base substitution T G missense_variant N990T 2969A>C LAML-KR 1 223990500 223990500 single base substitution C T downstream_gene_variant LAML-KR 1 223990500 223990500 single base substitution C T exon_variant LAML-KR 1 223990500 223990500 single base substitution C T intron_variant LAML-KR 1 223990500 223990500 single base substitution C T missense_variant R181H 542G>A LAML-KR 1 223990500 223990500 single base substitution C T missense_variant R310H 929G>A LAML-KR 1 223990500 223990500 single base substitution C T upstream_gene_variant LAML-KR 1 223994712 223994712 single base substitution G A downstream_gene_variant LAML-KR 1 223994712 223994712 single base substitution G A intron_variant LAML-KR 1 223994712 223994712 single base substitution G A upstream_gene_variant LGG-US 1 223990463 223990465 deletion of <=200bp CTT - downstream_gene_variant LGG-US 1 223990463 223990465 deletion of <=200bp CTT - exon_variant LGG-US 1 223990463 223990465 deletion of <=200bp CTT - inframe_deletion K193 LGG-US 1 223990463 223990465 deletion of <=200bp CTT - inframe_deletion K322 LGG-US 1 223990463 223990465 deletion of <=200bp CTT - intron_variant LGG-US 1 223990463 223990465 deletion of <=200bp CTT - upstream_gene_variant LICA-CN 1 223983710 223983710 single base substitution G T 3_prime_UTR_variant LICA-CN 1 223983710 223983710 single base substitution G T downstream_gene_variant LICA-CN 1 223983710 223983710 single base substitution G T exon_variant LICA-CN 1 223983710 223983710 single base substitution G T missense_variant P177Q 530C>A LICA-CN 1 223983710 223983710 single base substitution G T missense_variant P715Q 2144C>A LICA-CN 1 223983710 223983710 single base substitution G T missense_variant P77Q 230C>A LICA-CN 1 223983710 223983710 single base substitution G T missense_variant P844Q 2531C>A LICA-CN 1 223983790 223983790 single base substitution C T 3_prime_UTR_variant LICA-CN 1 223983790 223983790 single base substitution C T downstream_gene_variant LICA-CN 1 223983790 223983790 single base substitution C T exon_variant LICA-CN 1 223983790 223983790 single base substitution C T synonymous_variant E150E 450G>A LICA-CN 1 223983790 223983790 single base substitution C T synonymous_variant E50E 150G>A LICA-CN 1 223983790 223983790 single base substitution C T synonymous_variant E688E 2064G>A LICA-CN 1 223983790 223983790 single base substitution C T synonymous_variant E817E 2451G>A LICA-CN 1 223986188 223986188 single base substitution C G downstream_gene_variant LICA-CN 1 223986188 223986188 single base substitution C G exon_variant LICA-CN 1 223986188 223986188 single base substitution C G intron_variant LICA-CN 1 223986188 223986188 single base substitution C G synonymous_variant V430V 1290G>C LICA-CN 1 223986188 223986188 single base substitution C G synonymous_variant V559V 1677G>C LICA-CN 1 223986208 223986208 single base substitution C T downstream_gene_variant LICA-CN 1 223986208 223986208 single base substitution C T exon_variant LICA-CN 1 223986208 223986208 single base substitution C T intron_variant LICA-CN 1 223986208 223986208 single base substitution C T missense_variant A424T 1270G>A LICA-CN 1 223986208 223986208 single base substitution C T missense_variant A553T 1657G>A LICA-CN 1 223994621 223994621 single base substitution A G downstream_gene_variant LICA-CN 1 223994621 223994621 single base substitution A G exon_variant LICA-CN 1 223994621 223994621 single base substitution A G missense_variant L134P 401T>C LICA-CN 1 223994621 223994621 single base substitution A G missense_variant L5P 14T>C LICA-CN 1 223994621 223994621 single base substitution A G missense_variant L67P 200T>C LICA-CN 1 223994621 223994621 single base substitution A G upstream_gene_variant LICA-FR 1 223963426 223963426 single base substitution T G downstream_gene_variant LICA-FR 1 223967901 223967901 single base substitution T C 3_prime_UTR_variant LICA-FR 1 223967901 223967901 single base substitution T C downstream_gene_variant LICA-FR 1 223989892 223989892 single base substitution A G downstream_gene_variant LICA-FR 1 223989892 223989892 single base substitution A G exon_variant LICA-FR 1 223989892 223989892 single base substitution A G intron_variant LICA-FR 1 223989892 223989892 single base substitution A G missense_variant I255T 764T>C LICA-FR 1 223989892 223989892 single base substitution A G missense_variant I384T 1151T>C LICA-FR 1 223989892 223989892 single base substitution A G upstream_gene_variant LICA-FR 1 223990979 223990979 single base substitution C T downstream_gene_variant LICA-FR 1 223990979 223990979 single base substitution C T exon_variant LICA-FR 1 223990979 223990979 single base substitution C T intron_variant LICA-FR 1 223990979 223990979 single base substitution C T synonymous_variant E146E 438G>A LICA-FR 1 223990979 223990979 single base substitution C T synonymous_variant E275E 825G>A LICA-FR 1 223990979 223990979 single base substitution C T upstream_gene_variant LICA-FR 1 223996243 223996243 deletion of <=200bp A - downstream_gene_variant LICA-FR 1 223996243 223996243 deletion of <=200bp A - intron_variant LICA-FR 1 224033054 224033054 single base substitution G C intron_variant LIHC-US 1 223968572 223968572 single base substitution G C 3_prime_UTR_variant LIHC-US 1 223968572 223968572 single base substitution G C exon_variant LIHC-US 1 223968572 223968572 single base substitution G C missense_variant Q1001E 3001C>G LIHC-US 1 223968572 223968572 single base substitution G C missense_variant Q1130E 3388C>G LIHC-US 1 223968572 223968572 single base substitution G C missense_variant Q363E 1087C>G LIHC-US 1 223983762 223983762 single base substitution T A 3_prime_UTR_variant LIHC-US 1 223983762 223983762 single base substitution T A downstream_gene_variant LIHC-US 1 223983762 223983762 single base substitution T A exon_variant LIHC-US 1 223983762 223983762 single base substitution T A missense_variant S160C 478A>T LIHC-US 1 223983762 223983762 single base substitution T A missense_variant S60C 178A>T LIHC-US 1 223983762 223983762 single base substitution T A missense_variant S698C 2092A>T LIHC-US 1 223983762 223983762 single base substitution T A missense_variant S827C 2479A>T LIHC-US 1 223983912 223983912 single base substitution G C 3_prime_UTR_variant LIHC-US 1 223983912 223983912 single base substitution G C downstream_gene_variant LIHC-US 1 223983912 223983912 single base substitution G C exon_variant LIHC-US 1 223983912 223983912 single base substitution G C intron_variant LIHC-US 1 223983912 223983912 single base substitution G C missense_variant P10A 28C>G LIHC-US 1 223983912 223983912 single base substitution G C missense_variant P648A 1942C>G LIHC-US 1 223983912 223983912 single base substitution G C missense_variant P777A 2329C>G LIHC-US 1 224002032 224002032 single base substitution G A 5_prime_UTR_variant LIHC-US 1 224002032 224002032 single base substitution G A exon_variant LIHC-US 1 224002032 224002032 single base substitution G A stop_gained R67* 199C>T LIHC-US 1 224002032 224002032 single base substitution G A upstream_gene_variant LIHC-US 1 224009040 224009040 single base substitution A C 5_prime_UTR_variant LIHC-US 1 224009040 224009040 single base substitution A C exon_variant LIHC-US 1 224009040 224009040 single base substitution A C intron_variant LIHC-US 1 224009040 224009040 single base substitution A C missense_variant N19K 57T>G LIHC-US 1 224009040 224009040 single base substitution A C upstream_gene_variant LINC-JP 1 223964704 223964704 insertion of <=200bp - C downstream_gene_variant LINC-JP 1 223968895 223968909 deletion of <=200bp TGTAAATCGGCTCTA - intron_variant LINC-JP 1 223978635 223978635 single base substitution A C downstream_gene_variant LINC-JP 1 223978635 223978635 single base substitution A C intron_variant LINC-JP 1 223979644 223979644 single base substitution T C downstream_gene_variant LINC-JP 1 223979644 223979644 single base substitution T C intron_variant LINC-JP 1 223984318 223984318 single base substitution C G downstream_gene_variant LINC-JP 1 223984318 223984318 single base substitution C G intron_variant LINC-JP 1 223985978 223985978 single base substitution G T downstream_gene_variant LINC-JP 1 223985978 223985978 single base substitution G T exon_variant LINC-JP 1 223985978 223985978 single base substitution G T intron_variant LINC-JP 1 223985978 223985978 single base substitution G T missense_variant F500L 1500C>A LINC-JP 1 223985978 223985978 single base substitution G T missense_variant F629L 1887C>A LINC-JP 1 223987559 223987559 single base substitution G T downstream_gene_variant LINC-JP 1 223987559 223987559 single base substitution G T intron_variant LINC-JP 1 223987560 223987560 single base substitution A T downstream_gene_variant LINC-JP 1 223987560 223987560 single base substitution A T intron_variant LINC-JP 1 223993583 223993583 single base substitution T C downstream_gene_variant LINC-JP 1 223993583 223993583 single base substitution T C intron_variant LINC-JP 1 223993583 223993583 single base substitution T C upstream_gene_variant LINC-JP 1 223994770 223994770 single base substitution G C downstream_gene_variant LINC-JP 1 223994770 223994770 single base substitution G C intron_variant LINC-JP 1 223994770 223994770 single base substitution G C upstream_gene_variant LINC-JP 1 223996742 223996742 single base substitution T C downstream_gene_variant LINC-JP 1 223996742 223996742 single base substitution T C intron_variant LINC-JP 1 224002253 224002253 single base substitution T A intron_variant LINC-JP 1 224002253 224002253 single base substitution T A upstream_gene_variant LINC-JP 1 224009291 224009291 single base substitution C T intron_variant LINC-JP 1 224009291 224009291 single base substitution C T upstream_gene_variant LINC-JP 1 224027375 224027375 single base substitution C T intron_variant LINC-JP 1 224037187 224037187 insertion of <=200bp - T upstream_gene_variant LIRI-JP 1 223963028 223963028 single base substitution A G downstream_gene_variant LIRI-JP 1 223964116 223964116 single base substitution A G downstream_gene_variant LIRI-JP 1 223969318 223969318 single base substitution T C intron_variant LIRI-JP 1 223969369 223969369 single base substitution A T intron_variant LIRI-JP 1 223976943 223976943 single base substitution C G intron_variant LIRI-JP 1 223977115 223977115 single base substitution G T intron_variant LIRI-JP 1 223981030 223981030 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 223981030 223981030 single base substitution T C downstream_gene_variant LIRI-JP 1 223981030 223981030 single base substitution T C exon_variant LIRI-JP 1 223981030 223981030 single base substitution T C missense_variant D179G 536A>G LIRI-JP 1 223981030 223981030 single base substitution T C missense_variant D817G 2450A>G LIRI-JP 1 223981030 223981030 single base substitution T C missense_variant D946G 2837A>G LIRI-JP 1 223981147 223981147 single base substitution A G downstream_gene_variant LIRI-JP 1 223981147 223981147 single base substitution A G splice_region_variant LIRI-JP 1 223981873 223981873 single base substitution A G downstream_gene_variant LIRI-JP 1 223981873 223981873 single base substitution A G intron_variant LIRI-JP 1 223982369 223982369 single base substitution C T downstream_gene_variant LIRI-JP 1 223982369 223982369 single base substitution C T intron_variant LIRI-JP 1 223988013 223988013 single base substitution G A downstream_gene_variant LIRI-JP 1 223988013 223988013 single base substitution G A intron_variant LIRI-JP 1 223988110 223988110 single base substitution C G downstream_gene_variant LIRI-JP 1 223988110 223988110 single base substitution C G intron_variant LIRI-JP 1 223989154 223989154 single base substitution C T downstream_gene_variant LIRI-JP 1 223989154 223989154 single base substitution C T intron_variant LIRI-JP 1 223989154 223989154 single base substitution C T upstream_gene_variant LIRI-JP 1 223990158 223990158 single base substitution A C downstream_gene_variant LIRI-JP 1 223990158 223990158 single base substitution A C exon_variant LIRI-JP 1 223990158 223990158 single base substitution A C intron_variant LIRI-JP 1 223990158 223990158 single base substitution A C upstream_gene_variant LIRI-JP 1 223991194 223991194 single base substitution A C downstream_gene_variant LIRI-JP 1 223991194 223991194 single base substitution A C intron_variant LIRI-JP 1 223991194 223991194 single base substitution A C upstream_gene_variant LIRI-JP 1 223992886 223992886 single base substitution G C downstream_gene_variant LIRI-JP 1 223992886 223992886 single base substitution G C intron_variant LIRI-JP 1 223992886 223992886 single base substitution G C upstream_gene_variant LIRI-JP 1 223993298 223993298 single base substitution G T downstream_gene_variant LIRI-JP 1 223993298 223993298 single base substitution G T intron_variant LIRI-JP 1 223993298 223993298 single base substitution G T upstream_gene_variant LIRI-JP 1 223993794 223993794 single base substitution T C downstream_gene_variant LIRI-JP 1 223993794 223993794 single base substitution T C intron_variant LIRI-JP 1 223993794 223993794 single base substitution T C upstream_gene_variant LIRI-JP 1 223994414 223994414 single base substitution T C downstream_gene_variant LIRI-JP 1 223994414 223994414 single base substitution T C intron_variant LIRI-JP 1 223994414 223994414 single base substitution T C upstream_gene_variant LIRI-JP 1 223994513 223994513 single base substitution G A downstream_gene_variant LIRI-JP 1 223994513 223994513 single base substitution G A intron_variant LIRI-JP 1 223994513 223994513 single base substitution G A upstream_gene_variant LIRI-JP 1 223995649 223995649 single base substitution A C downstream_gene_variant LIRI-JP 1 223995649 223995649 single base substitution A C intron_variant LIRI-JP 1 223995649 223995649 single base substitution A C upstream_gene_variant LIRI-JP 1 223996635 223996635 single base substitution T G downstream_gene_variant LIRI-JP 1 223996635 223996635 single base substitution T G intron_variant LIRI-JP 1 223998013 223998013 deletion of <=200bp A - downstream_gene_variant LIRI-JP 1 223998013 223998013 deletion of <=200bp A - intron_variant LIRI-JP 1 223998286 223998286 single base substitution T C downstream_gene_variant LIRI-JP 1 223998286 223998286 single base substitution T C intron_variant LIRI-JP 1 224000086 224000086 single base substitution C G downstream_gene_variant LIRI-JP 1 224000086 224000086 single base substitution C G intron_variant LIRI-JP 1 224002383 224002383 single base substitution T C intron_variant LIRI-JP 1 224002383 224002383 single base substitution T C upstream_gene_variant LIRI-JP 1 224002825 224002825 single base substitution C A intron_variant LIRI-JP 1 224002825 224002825 single base substitution C A upstream_gene_variant LIRI-JP 1 224005483 224005483 single base substitution C G intron_variant LIRI-JP 1 224005483 224005483 single base substitution C G upstream_gene_variant LIRI-JP 1 224007506 224007506 single base substitution C T intron_variant LIRI-JP 1 224009641 224009641 single base substitution T A intron_variant LIRI-JP 1 224009641 224009641 single base substitution T A upstream_gene_variant LIRI-JP 1 224011569 224011569 single base substitution T C intron_variant LIRI-JP 1 224011569 224011569 single base substitution T C upstream_gene_variant LIRI-JP 1 224013190 224013190 single base substitution C T intron_variant LIRI-JP 1 224013190 224013190 single base substitution C T upstream_gene_variant LIRI-JP 1 224014769 224014769 single base substitution T A intron_variant LIRI-JP 1 224014769 224014769 single base substitution T A upstream_gene_variant LIRI-JP 1 224014919 224014919 single base substitution C A intron_variant LIRI-JP 1 224014919 224014919 single base substitution C A upstream_gene_variant LIRI-JP 1 224015870 224015870 single base substitution T C intron_variant LIRI-JP 1 224015870 224015870 single base substitution T C upstream_gene_variant LIRI-JP 1 224016914 224016914 single base substitution T C intron_variant LIRI-JP 1 224016914 224016914 single base substitution T C upstream_gene_variant LIRI-JP 1 224017390 224017390 single base substitution T C intron_variant LIRI-JP 1 224017390 224017390 single base substitution T C upstream_gene_variant LIRI-JP 1 224017732 224017732 single base substitution A G intron_variant LIRI-JP 1 224017732 224017732 single base substitution A G upstream_gene_variant LIRI-JP 1 224017787 224017787 single base substitution T C intron_variant LIRI-JP 1 224017787 224017787 single base substitution T C upstream_gene_variant LIRI-JP 1 224019452 224019452 deletion of <=200bp G - intron_variant LIRI-JP 1 224021471 224021471 single base substitution G A intron_variant LIRI-JP 1 224022171 224022171 single base substitution G A intron_variant LIRI-JP 1 224024937 224024937 single base substitution T C intron_variant LIRI-JP 1 224026588 224026588 single base substitution T C intron_variant LIRI-JP 1 224026744 224026744 single base substitution T C intron_variant LIRI-JP 1 224028971 224028971 single base substitution A T intron_variant LIRI-JP 1 224031529 224031529 single base substitution T C intron_variant LIRI-JP 1 224031618 224031618 single base substitution A C intron_variant LIRI-JP 1 224031953 224031953 single base substitution G A intron_variant LIRI-JP 1 224032666 224032666 single base substitution G A intron_variant LIRI-JP 1 224034898 224034898 single base substitution C T upstream_gene_variant LIRI-JP 1 224036845 224036845 single base substitution T C upstream_gene_variant LUSC-KR 1 223976450 223976450 single base substitution G C intron_variant LUSC-KR 1 224003971 224003971 single base substitution C T intron_variant LUSC-KR 1 224003971 224003971 single base substitution C T upstream_gene_variant LUSC-KR 1 224008913 224008913 single base substitution G A intron_variant LUSC-KR 1 224008913 224008913 single base substitution G A upstream_gene_variant LUSC-KR 1 224012378 224012378 single base substitution A T intron_variant LUSC-KR 1 224012378 224012378 single base substitution A T upstream_gene_variant LUSC-KR 1 224017309 224017309 single base substitution G C intron_variant LUSC-KR 1 224017309 224017309 single base substitution G C upstream_gene_variant LUSC-KR 1 224020733 224020733 single base substitution C G intron_variant LUSC-KR 1 224023164 224023164 single base substitution T C intron_variant LUSC-KR 1 224023540 224023540 single base substitution C T intron_variant LUSC-KR 1 224028324 224028324 single base substitution T G intron_variant LUSC-KR 1 224029630 224029630 single base substitution G T intron_variant LUSC-KR 1 224029892 224029892 single base substitution G A intron_variant LUSC-KR 1 224031508 224031508 single base substitution A G intron_variant LUSC-US 1 223989849 223989849 single base substitution G A downstream_gene_variant LUSC-US 1 223989849 223989849 single base substitution G A exon_variant LUSC-US 1 223989849 223989849 single base substitution G A intron_variant LUSC-US 1 223989849 223989849 single base substitution G A synonymous_variant N269N 807C>T LUSC-US 1 223989849 223989849 single base substitution G A synonymous_variant N398N 1194C>T LUSC-US 1 223989849 223989849 single base substitution G A upstream_gene_variant LUSC-US 1 224009057 224009057 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 1 224009057 224009057 single base substitution C A exon_variant LUSC-US 1 224009057 224009057 single base substitution C A intron_variant LUSC-US 1 224009057 224009057 single base substitution C A missense_variant V14L 40G>T LUSC-US 1 224009057 224009057 single base substitution C A upstream_gene_variant MALY-DE 1 223969407 223969407 single base substitution T A intron_variant MALY-DE 1 223973472 223973472 single base substitution A T intron_variant MALY-DE 1 223974214 223974214 single base substitution T A intron_variant MALY-DE 1 223985548 223985548 insertion of <=200bp - AC downstream_gene_variant MALY-DE 1 223985548 223985548 insertion of <=200bp - AC intron_variant MALY-DE 1 223995885 223995885 single base substitution C T downstream_gene_variant MALY-DE 1 223995885 223995885 single base substitution C T intron_variant MALY-DE 1 223995885 223995885 single base substitution C T upstream_gene_variant MALY-DE 1 224000171 224000171 single base substitution G A downstream_gene_variant MALY-DE 1 224000171 224000171 single base substitution G A intron_variant MALY-DE 1 224002130 224002130 single base substitution C T intron_variant MALY-DE 1 224002130 224002130 single base substitution C T upstream_gene_variant MALY-DE 1 224004564 224004564 single base substitution A G intron_variant MALY-DE 1 224004564 224004564 single base substitution A G upstream_gene_variant MALY-DE 1 224018644 224018644 insertion of <=200bp - A intron_variant MALY-DE 1 224018644 224018644 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 224020004 224020004 single base substitution G A intron_variant MALY-DE 1 224022091 224022091 single base substitution G A intron_variant MALY-DE 1 224027116 224027116 single base substitution C T intron_variant MALY-DE 1 224028556 224028556 single base substitution A C intron_variant MALY-DE 1 224030978 224030978 single base substitution C T intron_variant MALY-DE 1 224035301 224035301 single base substitution A T upstream_gene_variant MELA-AU 1 223962797 223962797 single base substitution G A downstream_gene_variant MELA-AU 1 223963012 223963012 single base substitution A C downstream_gene_variant MELA-AU 1 223963825 223963825 single base substitution G A downstream_gene_variant MELA-AU 1 223964589 223964589 single base substitution G A downstream_gene_variant MELA-AU 1 223964659 223964659 single base substitution A G downstream_gene_variant MELA-AU 1 223964734 223964734 single base substitution C T downstream_gene_variant MELA-AU 1 223964807 223964807 insertion of <=200bp - CT downstream_gene_variant MELA-AU 1 223965650 223965650 single base substitution T A downstream_gene_variant MELA-AU 1 223966612 223966612 single base substitution C T downstream_gene_variant MELA-AU 1 223966688 223966688 single base substitution G A downstream_gene_variant MELA-AU 1 223966717 223966717 single base substitution G A downstream_gene_variant MELA-AU 1 223966803 223966803 single base substitution A G downstream_gene_variant MELA-AU 1 223966878 223966878 single base substitution C G downstream_gene_variant MELA-AU 1 223967593 223967594 multiple base substitution (>=2bp and <=200bp) TA AG downstream_gene_variant MELA-AU 1 223968261 223968261 single base substitution G A 3_prime_UTR_variant MELA-AU 1 223968261 223968261 single base substitution G A downstream_gene_variant MELA-AU 1 223968265 223968265 single base substitution G A 3_prime_UTR_variant MELA-AU 1 223968265 223968265 single base substitution G A downstream_gene_variant MELA-AU 1 223968985 223968986 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 1 223969975 223969975 single base substitution A T intron_variant MELA-AU 1 223970586 223970586 single base substitution G A intron_variant MELA-AU 1 223971151 223971151 single base substitution C T intron_variant MELA-AU 1 223971251 223971251 single base substitution T C intron_variant MELA-AU 1 223972152 223972152 single base substitution A G intron_variant MELA-AU 1 223972515 223972515 single base substitution G T intron_variant MELA-AU 1 223972964 223972964 single base substitution G A intron_variant MELA-AU 1 223973020 223973020 single base substitution G A intron_variant MELA-AU 1 223973388 223973388 single base substitution C T intron_variant MELA-AU 1 223973975 223973975 single base substitution G A intron_variant MELA-AU 1 223974500 223974500 single base substitution G A intron_variant MELA-AU 1 223974898 223974898 single base substitution A G intron_variant MELA-AU 1 223975371 223975371 single base substitution G A intron_variant MELA-AU 1 223975582 223975582 insertion of <=200bp - AAAT intron_variant MELA-AU 1 223975625 223975625 single base substitution G A intron_variant MELA-AU 1 223975836 223975836 single base substitution G A intron_variant MELA-AU 1 223975881 223975881 single base substitution G A intron_variant MELA-AU 1 223976053 223976053 single base substitution C A intron_variant MELA-AU 1 223978143 223978143 single base substitution C T intron_variant MELA-AU 1 223978433 223978433 single base substitution G A intron_variant MELA-AU 1 223980147 223980147 single base substitution G A 3_prime_UTR_variant MELA-AU 1 223980147 223980147 single base substitution G A downstream_gene_variant MELA-AU 1 223980147 223980147 single base substitution G A exon_variant MELA-AU 1 223980147 223980147 single base substitution G A synonymous_variant I213I 639C>T MELA-AU 1 223980147 223980147 single base substitution G A synonymous_variant I851I 2553C>T MELA-AU 1 223980147 223980147 single base substitution G A synonymous_variant I980I 2940C>T MELA-AU 1 223980187 223980187 single base substitution G A 3_prime_UTR_variant MELA-AU 1 223980187 223980187 single base substitution G A downstream_gene_variant MELA-AU 1 223980187 223980187 single base substitution G A exon_variant MELA-AU 1 223980187 223980187 single base substitution G A missense_variant T200M 599C>T MELA-AU 1 223980187 223980187 single base substitution G A missense_variant T838M 2513C>T MELA-AU 1 223980187 223980187 single base substitution G A missense_variant T967M 2900C>T MELA-AU 1 223981038 223981038 single base substitution T A 3_prime_UTR_variant MELA-AU 1 223981038 223981038 single base substitution T A downstream_gene_variant MELA-AU 1 223981038 223981038 single base substitution T A exon_variant MELA-AU 1 223981038 223981038 single base substitution T A synonymous_variant G176G 528A>T MELA-AU 1 223981038 223981038 single base substitution T A synonymous_variant G814G 2442A>T MELA-AU 1 223981038 223981038 single base substitution T A synonymous_variant G943G 2829A>T MELA-AU 1 223981954 223981954 single base substitution G A downstream_gene_variant MELA-AU 1 223981954 223981954 single base substitution G A intron_variant MELA-AU 1 223982481 223982481 single base substitution C A downstream_gene_variant MELA-AU 1 223982481 223982481 single base substitution C A intron_variant MELA-AU 1 223982490 223982490 single base substitution C T downstream_gene_variant MELA-AU 1 223982490 223982490 single base substitution C T intron_variant MELA-AU 1 223982607 223982607 single base substitution G A downstream_gene_variant MELA-AU 1 223982607 223982607 single base substitution G A intron_variant MELA-AU 1 223983225 223983225 single base substitution G A downstream_gene_variant MELA-AU 1 223983225 223983225 single base substitution G A intron_variant MELA-AU 1 223983855 223983855 single base substitution G A 3_prime_UTR_variant MELA-AU 1 223983855 223983855 single base substitution G A downstream_gene_variant MELA-AU 1 223983855 223983855 single base substitution G A exon_variant MELA-AU 1 223983855 223983855 single base substitution G A intron_variant MELA-AU 1 223983855 223983855 single base substitution G A missense_variant P29S 85C>T MELA-AU 1 223983855 223983855 single base substitution G A missense_variant P667S 1999C>T MELA-AU 1 223983855 223983855 single base substitution G A missense_variant P796S 2386C>T MELA-AU 1 223984935 223984935 single base substitution C T downstream_gene_variant MELA-AU 1 223984935 223984935 single base substitution C T intron_variant MELA-AU 1 223985378 223985378 single base substitution G A downstream_gene_variant MELA-AU 1 223985378 223985378 single base substitution G A intron_variant MELA-AU 1 223985496 223985496 single base substitution A G downstream_gene_variant MELA-AU 1 223985496 223985496 single base substitution A G intron_variant MELA-AU 1 223986077 223986077 single base substitution G A downstream_gene_variant MELA-AU 1 223986077 223986077 single base substitution G A exon_variant MELA-AU 1 223986077 223986077 single base substitution G A intron_variant MELA-AU 1 223986077 223986077 single base substitution G A synonymous_variant S467S 1401C>T MELA-AU 1 223986077 223986077 single base substitution G A synonymous_variant S596S 1788C>T MELA-AU 1 223986497 223986497 single base substitution G A downstream_gene_variant MELA-AU 1 223986497 223986497 single base substitution G A intron_variant MELA-AU 1 223986800 223986800 single base substitution T C downstream_gene_variant MELA-AU 1 223986800 223986800 single base substitution T C intron_variant MELA-AU 1 223987110 223987110 single base substitution G A downstream_gene_variant MELA-AU 1 223987110 223987110 single base substitution G A intron_variant MELA-AU 1 223987466 223987466 single base substitution G A downstream_gene_variant MELA-AU 1 223987466 223987466 single base substitution G A intron_variant MELA-AU 1 223987732 223987732 single base substitution G A 5_prime_UTR_variant MELA-AU 1 223987732 223987732 single base substitution G A downstream_gene_variant MELA-AU 1 223987732 223987732 single base substitution G A exon_variant MELA-AU 1 223987732 223987732 single base substitution G A intron_variant MELA-AU 1 223987732 223987732 single base substitution G A missense_variant P323S 967C>T MELA-AU 1 223987732 223987732 single base substitution G A missense_variant P452S 1354C>T MELA-AU 1 223987900 223987900 single base substitution A G downstream_gene_variant MELA-AU 1 223987900 223987900 single base substitution A G intron_variant MELA-AU 1 223988401 223988401 single base substitution C T downstream_gene_variant MELA-AU 1 223988401 223988401 single base substitution C T intron_variant MELA-AU 1 223988401 223988401 single base substitution C T splice_donor_variant MELA-AU 1 223989765 223989765 single base substitution T A downstream_gene_variant MELA-AU 1 223989765 223989765 single base substitution T A exon_variant MELA-AU 1 223989765 223989765 single base substitution T A intron_variant MELA-AU 1 223989765 223989765 single base substitution T A upstream_gene_variant MELA-AU 1 223989955 223989955 single base substitution G A downstream_gene_variant MELA-AU 1 223989955 223989955 single base substitution G A exon_variant MELA-AU 1 223989955 223989955 single base substitution G A intron_variant MELA-AU 1 223989955 223989955 single base substitution G A missense_variant P234L 701C>T MELA-AU 1 223989955 223989955 single base substitution G A missense_variant P363L 1088C>T MELA-AU 1 223989955 223989955 single base substitution G A upstream_gene_variant MELA-AU 1 223990647 223990647 single base substitution G A downstream_gene_variant MELA-AU 1 223990647 223990647 single base substitution G A exon_variant MELA-AU 1 223990647 223990647 single base substitution G A intron_variant MELA-AU 1 223990647 223990647 single base substitution G A upstream_gene_variant MELA-AU 1 223990691 223990691 single base substitution A C downstream_gene_variant MELA-AU 1 223990691 223990691 single base substitution A C exon_variant MELA-AU 1 223990691 223990691 single base substitution A C intron_variant MELA-AU 1 223990691 223990691 single base substitution A C upstream_gene_variant MELA-AU 1 223991562 223991562 single base substitution G A downstream_gene_variant MELA-AU 1 223991562 223991562 single base substitution G A intron_variant MELA-AU 1 223991562 223991562 single base substitution G A upstream_gene_variant MELA-AU 1 223992724 223992724 single base substitution G A downstream_gene_variant MELA-AU 1 223992724 223992724 single base substitution G A intron_variant MELA-AU 1 223992724 223992724 single base substitution G A upstream_gene_variant MELA-AU 1 223992912 223992912 single base substitution C A downstream_gene_variant MELA-AU 1 223992912 223992912 single base substitution C A intron_variant MELA-AU 1 223992912 223992912 single base substitution C A upstream_gene_variant MELA-AU 1 223992914 223992914 single base substitution G A downstream_gene_variant MELA-AU 1 223992914 223992914 single base substitution G A intron_variant MELA-AU 1 223992914 223992914 single base substitution G A upstream_gene_variant MELA-AU 1 223993162 223993162 single base substitution G A downstream_gene_variant MELA-AU 1 223993162 223993162 single base substitution G A intron_variant MELA-AU 1 223993162 223993162 single base substitution G A upstream_gene_variant MELA-AU 1 223993695 223993695 single base substitution G A downstream_gene_variant MELA-AU 1 223993695 223993695 single base substitution G A intron_variant MELA-AU 1 223993695 223993695 single base substitution G A upstream_gene_variant MELA-AU 1 223993699 223993699 single base substitution A G downstream_gene_variant MELA-AU 1 223993699 223993699 single base substitution A G intron_variant MELA-AU 1 223993699 223993699 single base substitution A G upstream_gene_variant MELA-AU 1 223993834 223993834 single base substitution G A downstream_gene_variant MELA-AU 1 223993834 223993834 single base substitution G A intron_variant MELA-AU 1 223993834 223993834 single base substitution G A upstream_gene_variant MELA-AU 1 223993855 223993855 single base substitution G A downstream_gene_variant MELA-AU 1 223993855 223993855 single base substitution G A intron_variant MELA-AU 1 223993855 223993855 single base substitution G A upstream_gene_variant MELA-AU 1 223994066 223994066 single base substitution T A downstream_gene_variant MELA-AU 1 223994066 223994066 single base substitution T A intron_variant MELA-AU 1 223994066 223994066 single base substitution T A upstream_gene_variant MELA-AU 1 223995062 223995062 single base substitution G A downstream_gene_variant MELA-AU 1 223995062 223995062 single base substitution G A intron_variant MELA-AU 1 223995062 223995062 single base substitution G A upstream_gene_variant MELA-AU 1 223995132 223995132 insertion of <=200bp - A downstream_gene_variant MELA-AU 1 223995132 223995132 insertion of <=200bp - A intron_variant MELA-AU 1 223995132 223995132 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 223995589 223995589 single base substitution C T downstream_gene_variant MELA-AU 1 223995589 223995589 single base substitution C T intron_variant MELA-AU 1 223995589 223995589 single base substitution C T upstream_gene_variant MELA-AU 1 223997340 223997340 single base substitution G A downstream_gene_variant MELA-AU 1 223997340 223997340 single base substitution G A intron_variant MELA-AU 1 223998849 223998849 single base substitution G A downstream_gene_variant MELA-AU 1 223998849 223998849 single base substitution G A intron_variant MELA-AU 1 223998906 223998906 single base substitution G A downstream_gene_variant MELA-AU 1 223998906 223998906 single base substitution G A intron_variant MELA-AU 1 223998957 223998957 single base substitution G A downstream_gene_variant MELA-AU 1 223998957 223998957 single base substitution G A intron_variant MELA-AU 1 224000931 224000931 single base substitution T A downstream_gene_variant MELA-AU 1 224000931 224000931 single base substitution T A intron_variant MELA-AU 1 224001018 224001019 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 224001018 224001019 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224001481 224001482 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 224001481 224001482 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 224001976 224001976 single base substitution G A 5_prime_UTR_variant MELA-AU 1 224001976 224001976 single base substitution G A exon_variant MELA-AU 1 224001976 224001976 single base substitution G A synonymous_variant F18F 54C>T MELA-AU 1 224001976 224001976 single base substitution G A synonymous_variant F85F 255C>T MELA-AU 1 224002090 224002090 single base substitution G A intron_variant MELA-AU 1 224002090 224002090 single base substitution G A upstream_gene_variant MELA-AU 1 224003051 224003051 single base substitution G A intron_variant MELA-AU 1 224003051 224003051 single base substitution G A upstream_gene_variant MELA-AU 1 224003191 224003191 single base substitution C A intron_variant MELA-AU 1 224003191 224003191 single base substitution C A upstream_gene_variant MELA-AU 1 224003289 224003289 single base substitution G A intron_variant MELA-AU 1 224003289 224003289 single base substitution G A upstream_gene_variant MELA-AU 1 224003456 224003456 single base substitution C T intron_variant MELA-AU 1 224003456 224003456 single base substitution C T upstream_gene_variant MELA-AU 1 224004620 224004620 single base substitution G A intron_variant MELA-AU 1 224004620 224004620 single base substitution G A upstream_gene_variant MELA-AU 1 224005231 224005231 single base substitution G A intron_variant MELA-AU 1 224005231 224005231 single base substitution G A upstream_gene_variant MELA-AU 1 224005327 224005327 single base substitution G A intron_variant MELA-AU 1 224005327 224005327 single base substitution G A upstream_gene_variant MELA-AU 1 224005641 224005641 single base substitution A T intron_variant MELA-AU 1 224005641 224005641 single base substitution A T upstream_gene_variant MELA-AU 1 224005864 224005864 single base substitution G A intron_variant MELA-AU 1 224005864 224005864 single base substitution G A upstream_gene_variant MELA-AU 1 224006092 224006092 single base substitution A G intron_variant MELA-AU 1 224006092 224006092 single base substitution A G upstream_gene_variant MELA-AU 1 224006152 224006152 single base substitution G A intron_variant MELA-AU 1 224006152 224006152 single base substitution G A upstream_gene_variant MELA-AU 1 224006380 224006380 single base substitution G A intron_variant MELA-AU 1 224006380 224006380 single base substitution G A upstream_gene_variant MELA-AU 1 224006912 224006912 single base substitution A C intron_variant MELA-AU 1 224006912 224006912 single base substitution A C upstream_gene_variant MELA-AU 1 224008179 224008179 single base substitution C G intron_variant MELA-AU 1 224010184 224010184 single base substitution G A intron_variant MELA-AU 1 224010184 224010184 single base substitution G A upstream_gene_variant MELA-AU 1 224010524 224010524 single base substitution G A intron_variant MELA-AU 1 224010524 224010524 single base substitution G A upstream_gene_variant MELA-AU 1 224010549 224010549 single base substitution G A intron_variant MELA-AU 1 224010549 224010549 single base substitution G A upstream_gene_variant MELA-AU 1 224011157 224011157 single base substitution G A intron_variant MELA-AU 1 224011157 224011157 single base substitution G A upstream_gene_variant MELA-AU 1 224011387 224011387 single base substitution G A intron_variant MELA-AU 1 224011387 224011387 single base substitution G A upstream_gene_variant MELA-AU 1 224012325 224012325 single base substitution G A intron_variant MELA-AU 1 224012325 224012325 single base substitution G A upstream_gene_variant MELA-AU 1 224012728 224012728 single base substitution A C intron_variant MELA-AU 1 224012728 224012728 single base substitution A C upstream_gene_variant MELA-AU 1 224013011 224013011 single base substitution G A intron_variant MELA-AU 1 224013011 224013011 single base substitution G A upstream_gene_variant MELA-AU 1 224013501 224013501 single base substitution G A intron_variant MELA-AU 1 224013501 224013501 single base substitution G A upstream_gene_variant MELA-AU 1 224013564 224013564 single base substitution A C intron_variant MELA-AU 1 224013564 224013564 single base substitution A C upstream_gene_variant MELA-AU 1 224016778 224016778 single base substitution C T intron_variant MELA-AU 1 224016778 224016778 single base substitution C T upstream_gene_variant MELA-AU 1 224017835 224017835 single base substitution C T intron_variant MELA-AU 1 224017835 224017835 single base substitution C T upstream_gene_variant MELA-AU 1 224018130 224018130 single base substitution T A intron_variant MELA-AU 1 224018130 224018130 single base substitution T A upstream_gene_variant MELA-AU 1 224018365 224018365 single base substitution G A intron_variant MELA-AU 1 224018365 224018365 single base substitution G A upstream_gene_variant MELA-AU 1 224018707 224018707 single base substitution G A intron_variant MELA-AU 1 224018707 224018707 single base substitution G A upstream_gene_variant MELA-AU 1 224020213 224020213 single base substitution G A intron_variant MELA-AU 1 224020805 224020805 single base substitution G A intron_variant MELA-AU 1 224021501 224021501 single base substitution G A intron_variant MELA-AU 1 224023707 224023707 single base substitution G A intron_variant MELA-AU 1 224025133 224025134 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224025555 224025555 single base substitution A T intron_variant MELA-AU 1 224025718 224025718 single base substitution C T intron_variant MELA-AU 1 224026555 224026555 single base substitution G A intron_variant MELA-AU 1 224026693 224026693 single base substitution G A intron_variant MELA-AU 1 224027018 224027018 single base substitution G A intron_variant MELA-AU 1 224027272 224027272 single base substitution G A intron_variant MELA-AU 1 224028149 224028150 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224028951 224028954 deletion of <=200bp AAAT - intron_variant MELA-AU 1 224028975 224028975 single base substitution G T intron_variant MELA-AU 1 224029381 224029381 single base substitution A G intron_variant MELA-AU 1 224029897 224029898 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 224030237 224030237 single base substitution G A intron_variant MELA-AU 1 224030796 224030796 single base substitution C T intron_variant MELA-AU 1 224033022 224033022 single base substitution C T intron_variant MELA-AU 1 224034726 224034727 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 224035549 224035549 single base substitution G A upstream_gene_variant MELA-AU 1 224035726 224035726 single base substitution G A upstream_gene_variant MELA-AU 1 224035931 224035931 single base substitution C T upstream_gene_variant MELA-AU 1 224036371 224036371 single base substitution C T upstream_gene_variant MELA-AU 1 224036644 224036644 single base substitution C A upstream_gene_variant MELA-AU 1 224036708 224036708 single base substitution C T upstream_gene_variant MELA-AU 1 224036850 224036850 single base substitution G A upstream_gene_variant MELA-AU 1 224036855 224036855 single base substitution G A upstream_gene_variant MELA-AU 1 224037026 224037026 single base substitution G A upstream_gene_variant MELA-AU 1 224037051 224037051 single base substitution C T upstream_gene_variant MELA-AU 1 224037867 224037867 single base substitution A T upstream_gene_variant MELA-AU 1 224037974 224037974 single base substitution C T upstream_gene_variant MELA-AU 1 224038054 224038054 single base substitution G A upstream_gene_variant MELA-AU 1 224038239 224038239 single base substitution C T upstream_gene_variant MELA-AU 1 224038297 224038297 single base substitution C T upstream_gene_variant ORCA-IN 1 223982665 223982665 single base substitution C A downstream_gene_variant ORCA-IN 1 223982665 223982665 single base substitution C A intron_variant OV-AU 1 223966228 223966228 single base substitution G A downstream_gene_variant OV-AU 1 223967566 223967566 single base substitution C A downstream_gene_variant OV-AU 1 223968558 223968558 single base substitution G A 3_prime_UTR_variant OV-AU 1 223968558 223968558 single base substitution G A exon_variant OV-AU 1 223968558 223968558 single base substitution G A synonymous_variant A1005A 3015C>T OV-AU 1 223968558 223968558 single base substitution G A synonymous_variant A1134A 3402C>T OV-AU 1 223968558 223968558 single base substitution G A synonymous_variant A367A 1101C>T OV-AU 1 223968779 223968779 single base substitution T C intron_variant OV-AU 1 223980534 223980534 single base substitution T G downstream_gene_variant OV-AU 1 223980534 223980534 single base substitution T G intron_variant OV-AU 1 223993367 223993367 single base substitution C A downstream_gene_variant OV-AU 1 223993367 223993367 single base substitution C A intron_variant OV-AU 1 223993367 223993367 single base substitution C A upstream_gene_variant OV-AU 1 224001215 224001215 single base substitution C T downstream_gene_variant OV-AU 1 224001215 224001215 single base substitution C T intron_variant OV-AU 1 224014800 224014800 single base substitution C T intron_variant OV-AU 1 224014800 224014800 single base substitution C T upstream_gene_variant OV-AU 1 224020611 224020611 single base substitution C A intron_variant OV-AU 1 224021231 224021231 single base substitution G A intron_variant OV-AU 1 224023853 224023853 single base substitution C G intron_variant OV-AU 1 224031489 224031489 single base substitution T C intron_variant OV-AU 1 224035789 224035789 single base substitution G C upstream_gene_variant OV-US 1 223980221 223980221 single base substitution C G 3_prime_UTR_variant OV-US 1 223980221 223980221 single base substitution C G downstream_gene_variant OV-US 1 223980221 223980221 single base substitution C G exon_variant OV-US 1 223980221 223980221 single base substitution C G missense_variant D189H 565G>C OV-US 1 223980221 223980221 single base substitution C G missense_variant D827H 2479G>C OV-US 1 223980221 223980221 single base substitution C G missense_variant D956H 2866G>C PACA-AU 1 223964704 223964704 deletion of <=200bp C - downstream_gene_variant PACA-AU 1 223969751 223969751 single base substitution A C intron_variant PACA-AU 1 223970846 223970846 single base substitution T A intron_variant PACA-AU 1 223971971 223971971 single base substitution G A 3_prime_UTR_variant PACA-AU 1 223971971 223971971 single base substitution G A exon_variant PACA-AU 1 223971971 223971971 single base substitution G A missense_variant A1070V 3209C>T PACA-AU 1 223971971 223971971 single base substitution G A missense_variant A303V 908C>T PACA-AU 1 223971971 223971971 single base substitution G A missense_variant A941V 2822C>T PACA-AU 1 223972854 223972854 single base substitution T C intron_variant PACA-AU 1 223973184 223973185 deletion of <=200bp CA - intron_variant PACA-AU 1 223974285 223974285 single base substitution T C intron_variant PACA-AU 1 223980211 223980211 single base substitution C A 3_prime_UTR_variant PACA-AU 1 223980211 223980211 single base substitution C A downstream_gene_variant PACA-AU 1 223980211 223980211 single base substitution C A exon_variant PACA-AU 1 223980211 223980211 single base substitution C A missense_variant S192I 575G>T PACA-AU 1 223980211 223980211 single base substitution C A missense_variant S830I 2489G>T PACA-AU 1 223980211 223980211 single base substitution C A missense_variant S959I 2876G>T PACA-AU 1 223987005 223987005 single base substitution T A downstream_gene_variant PACA-AU 1 223987005 223987005 single base substitution T A intron_variant PACA-AU 1 223987105 223987105 single base substitution C T downstream_gene_variant PACA-AU 1 223987105 223987105 single base substitution C T intron_variant PACA-AU 1 223988585 223988585 single base substitution C A downstream_gene_variant PACA-AU 1 223988585 223988585 single base substitution C A intron_variant PACA-AU 1 223988585 223988585 single base substitution C A upstream_gene_variant PACA-AU 1 223989955 223989955 single base substitution G A downstream_gene_variant PACA-AU 1 223989955 223989955 single base substitution G A exon_variant PACA-AU 1 223989955 223989955 single base substitution G A intron_variant PACA-AU 1 223989955 223989955 single base substitution G A missense_variant P234L 701C>T PACA-AU 1 223989955 223989955 single base substitution G A missense_variant P363L 1088C>T PACA-AU 1 223989955 223989955 single base substitution G A upstream_gene_variant PACA-AU 1 223991224 223991224 single base substitution G A downstream_gene_variant PACA-AU 1 223991224 223991224 single base substitution G A intron_variant PACA-AU 1 223991224 223991224 single base substitution G A upstream_gene_variant PACA-AU 1 223995821 223995821 single base substitution A G downstream_gene_variant PACA-AU 1 223995821 223995821 single base substitution A G intron_variant PACA-AU 1 223995821 223995821 single base substitution A G upstream_gene_variant PACA-AU 1 223996501 223996501 single base substitution C T downstream_gene_variant PACA-AU 1 223996501 223996501 single base substitution C T intron_variant PACA-AU 1 223998151 223998151 single base substitution A C 5_prime_UTR_variant PACA-AU 1 223998151 223998151 single base substitution A C downstream_gene_variant PACA-AU 1 223998151 223998151 single base substitution A C exon_variant PACA-AU 1 223998151 223998151 single base substitution A C stop_gained Y118* 354T>G PACA-AU 1 223998151 223998151 single base substitution A C stop_gained Y51* 153T>G PACA-AU 1 224000250 224000252 deletion of <=200bp TTG - downstream_gene_variant PACA-AU 1 224000250 224000252 deletion of <=200bp TTG - intron_variant PACA-AU 1 224004934 224004934 single base substitution A G intron_variant PACA-AU 1 224004934 224004934 single base substitution A G upstream_gene_variant PACA-AU 1 224015020 224015020 deletion of <=200bp A - intron_variant PACA-AU 1 224015020 224015020 deletion of <=200bp A - upstream_gene_variant PACA-AU 1 224015451 224015451 single base substitution T C intron_variant PACA-AU 1 224015451 224015451 single base substitution T C upstream_gene_variant PACA-AU 1 224019250 224019250 single base substitution C T intron_variant PACA-AU 1 224033974 224033974 single base substitution C G upstream_gene_variant PACA-AU 1 224036807 224036807 single base substitution G A upstream_gene_variant PACA-CA 1 223964242 223964242 single base substitution T C downstream_gene_variant PACA-CA 1 223967671 223967671 single base substitution C T 3_prime_UTR_variant PACA-CA 1 223967671 223967671 single base substitution C T downstream_gene_variant PACA-CA 1 223968437 223968437 single base substitution C T 3_prime_UTR_variant PACA-CA 1 223968437 223968437 single base substitution C T downstream_gene_variant PACA-CA 1 223970192 223970213 deletion of <=200bp GTCATCTGAAAGCTTTTTTTTA - intron_variant PACA-CA 1 223971794 223971802 deletion of <=200bp CCGTAAGCG - intron_variant PACA-CA 1 223972509 223972509 single base substitution G C intron_variant PACA-CA 1 223979001 223979001 single base substitution T A downstream_gene_variant PACA-CA 1 223979001 223979001 single base substitution T A intron_variant PACA-CA 1 223981030 223981030 single base substitution T C 3_prime_UTR_variant PACA-CA 1 223981030 223981030 single base substitution T C downstream_gene_variant PACA-CA 1 223981030 223981030 single base substitution T C exon_variant PACA-CA 1 223981030 223981030 single base substitution T C missense_variant D179G 536A>G PACA-CA 1 223981030 223981030 single base substitution T C missense_variant D817G 2450A>G PACA-CA 1 223981030 223981030 single base substitution T C missense_variant D946G 2837A>G PACA-CA 1 223985994 223985994 single base substitution G A downstream_gene_variant PACA-CA 1 223985994 223985994 single base substitution G A exon_variant PACA-CA 1 223985994 223985994 single base substitution G A intron_variant PACA-CA 1 223985994 223985994 single base substitution G A missense_variant A495V 1484C>T PACA-CA 1 223985994 223985994 single base substitution G A missense_variant A624V 1871C>T PACA-CA 1 223986078 223986078 single base substitution G A downstream_gene_variant PACA-CA 1 223986078 223986078 single base substitution G A exon_variant PACA-CA 1 223986078 223986078 single base substitution G A intron_variant PACA-CA 1 223986078 223986078 single base substitution G A missense_variant S467F 1400C>T PACA-CA 1 223986078 223986078 single base substitution G A missense_variant S596F 1787C>T PACA-CA 1 223986406 223986406 single base substitution T C downstream_gene_variant PACA-CA 1 223986406 223986406 single base substitution T C intron_variant PACA-CA 1 223997682 223997682 single base substitution C T downstream_gene_variant PACA-CA 1 223997682 223997682 single base substitution C T intron_variant PACA-CA 1 223998344 223998344 single base substitution T C downstream_gene_variant PACA-CA 1 223998344 223998344 single base substitution T C intron_variant PACA-CA 1 224000069 224000070 deletion of <=200bp AC - downstream_gene_variant PACA-CA 1 224000069 224000070 deletion of <=200bp AC - intron_variant PACA-CA 1 224003383 224003383 single base substitution G A intron_variant PACA-CA 1 224003383 224003383 single base substitution G A upstream_gene_variant PACA-CA 1 224003722 224003722 single base substitution C A intron_variant PACA-CA 1 224003722 224003722 single base substitution C A upstream_gene_variant PACA-CA 1 224004637 224004637 single base substitution G A intron_variant PACA-CA 1 224004637 224004637 single base substitution G A upstream_gene_variant PACA-CA 1 224010139 224010139 single base substitution G A intron_variant PACA-CA 1 224010139 224010139 single base substitution G A upstream_gene_variant PACA-CA 1 224011073 224011073 single base substitution G C intron_variant PACA-CA 1 224011073 224011073 single base substitution G C upstream_gene_variant PACA-CA 1 224012377 224012377 single base substitution T A intron_variant PACA-CA 1 224012377 224012377 single base substitution T A upstream_gene_variant PACA-CA 1 224014106 224014106 single base substitution C G intron_variant PACA-CA 1 224014106 224014106 single base substitution C G upstream_gene_variant PACA-CA 1 224023710 224023710 single base substitution G C intron_variant PACA-CA 1 224028516 224028516 single base substitution A C intron_variant PACA-CA 1 224031495 224031495 single base substitution T G intron_variant PACA-CA 1 224035365 224035365 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 224035740 224035740 single base substitution C G upstream_gene_variant PACA-CA 1 224035935 224035935 single base substitution A G upstream_gene_variant PACA-CA 1 224035946 224035946 single base substitution G A upstream_gene_variant PAEN-IT 1 223976892 223976892 single base substitution C G intron_variant PBCA-DE 1 223974284 223974285 deletion of <=200bp GT - intron_variant PBCA-DE 1 223985548 223985549 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 1 223985548 223985549 deletion of <=200bp AC - intron_variant PBCA-DE 1 223994527 223994527 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 223994527 223994527 insertion of <=200bp - A intron_variant PBCA-DE 1 223994527 223994527 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 224021219 224021219 deletion of <=200bp A - intron_variant PBCA-DE 1 224025397 224025397 single base substitution C T intron_variant PBCA-DE 1 224026466 224026466 single base substitution G A intron_variant PBCA-DE 1 224033268 224033268 single base substitution C T intron_variant PBCA-DE 1 224036415 224036415 single base substitution G A upstream_gene_variant PBCA-DE 1 224036778 224036778 deletion of <=200bp T - upstream_gene_variant PRAD-CA 1 223962929 223962929 single base substitution G A downstream_gene_variant PRAD-CA 1 223966991 223966991 single base substitution C T downstream_gene_variant PRAD-CA 1 223979326 223979326 single base substitution G T downstream_gene_variant PRAD-CA 1 223979326 223979326 single base substitution G T intron_variant PRAD-CA 1 224004178 224004178 single base substitution G C intron_variant PRAD-CA 1 224004178 224004178 single base substitution G C upstream_gene_variant PRAD-CA 1 224006532 224006532 single base substitution T C intron_variant PRAD-CA 1 224006532 224006532 single base substitution T C upstream_gene_variant PRAD-CA 1 224008364 224008364 single base substitution T C intron_variant PRAD-CA 1 224021459 224021459 single base substitution G A intron_variant PRAD-CA 1 224028852 224028852 single base substitution C G intron_variant PRAD-CA 1 224031760 224031760 single base substitution A G intron_variant PRAD-CA 1 224035327 224035327 single base substitution A G upstream_gene_variant PRAD-CA 1 224035464 224035464 single base substitution C A upstream_gene_variant PRAD-CA 1 224035842 224035842 single base substitution G T upstream_gene_variant PRAD-CA 1 224036019 224036019 single base substitution A C upstream_gene_variant PRAD-CA 1 224036192 224036192 single base substitution T C upstream_gene_variant PRAD-UK 1 223971416 223971416 single base substitution T C intron_variant PRAD-UK 1 223973473 223973473 insertion of <=200bp - T intron_variant PRAD-UK 1 223981332 223981332 single base substitution T A downstream_gene_variant PRAD-UK 1 223981332 223981332 single base substitution T A intron_variant PRAD-UK 1 223994793 223994793 single base substitution C T downstream_gene_variant PRAD-UK 1 223994793 223994793 single base substitution C T intron_variant PRAD-UK 1 223994793 223994793 single base substitution C T upstream_gene_variant PRAD-UK 1 224017410 224017410 single base substitution C G intron_variant PRAD-UK 1 224017410 224017410 single base substitution C G upstream_gene_variant PRAD-UK 1 224021541 224021541 single base substitution G A intron_variant PRAD-UK 1 224024016 224024016 single base substitution C T intron_variant PRAD-UK 1 224026111 224026111 single base substitution A T intron_variant PRAD-UK 1 224034452 224034452 single base substitution G C upstream_gene_variant PRAD-US 1 223971888 223971888 single base substitution C T 3_prime_UTR_variant PRAD-US 1 223971888 223971888 single base substitution C T exon_variant PRAD-US 1 223971888 223971888 single base substitution C T missense_variant E1098K 3292G>A PRAD-US 1 223971888 223971888 single base substitution C T missense_variant E331K 991G>A PRAD-US 1 223971888 223971888 single base substitution C T missense_variant E969K 2905G>A PRAD-US 1 223985959 223985959 deletion of <=200bp C - downstream_gene_variant PRAD-US 1 223985959 223985959 deletion of <=200bp C - exon_variant PRAD-US 1 223985959 223985959 deletion of <=200bp C - frameshift_variant A507 PRAD-US 1 223985959 223985959 deletion of <=200bp C - frameshift_variant A636 PRAD-US 1 223985959 223985959 deletion of <=200bp C - intron_variant PRAD-US 1 223986246 223986246 single base substitution G A downstream_gene_variant PRAD-US 1 223986246 223986246 single base substitution G A exon_variant PRAD-US 1 223986246 223986246 single base substitution G A intron_variant PRAD-US 1 223986246 223986246 single base substitution G A missense_variant S411L 1232C>T PRAD-US 1 223986246 223986246 single base substitution G A missense_variant S540L 1619C>T RECA-EU 1 223967607 223967607 single base substitution C T 3_prime_UTR_variant RECA-EU 1 223967607 223967607 single base substitution C T downstream_gene_variant RECA-EU 1 223972015 223972015 single base substitution T C splice_region_variant RECA-EU 1 223976081 223976081 single base substitution T A intron_variant RECA-EU 1 223976286 223976286 single base substitution A G intron_variant RECA-EU 1 223983666 223983666 single base substitution G C 3_prime_UTR_variant RECA-EU 1 223983666 223983666 single base substitution G C downstream_gene_variant RECA-EU 1 223983666 223983666 single base substitution G C exon_variant RECA-EU 1 223983666 223983666 single base substitution G C missense_variant P192A 574C>G RECA-EU 1 223983666 223983666 single base substitution G C missense_variant P730A 2188C>G RECA-EU 1 223983666 223983666 single base substitution G C missense_variant P859A 2575C>G RECA-EU 1 223983666 223983666 single base substitution G C missense_variant P92A 274C>G RECA-EU 1 224004324 224004324 single base substitution T G intron_variant RECA-EU 1 224004324 224004324 single base substitution T G upstream_gene_variant RECA-EU 1 224011625 224011625 single base substitution T C intron_variant RECA-EU 1 224011625 224011625 single base substitution T C upstream_gene_variant RECA-EU 1 224015348 224015348 single base substitution C G intron_variant RECA-EU 1 224015348 224015348 single base substitution C G upstream_gene_variant RECA-EU 1 224021890 224021890 single base substitution T A intron_variant RECA-EU 1 224032503 224032503 single base substitution T G intron_variant SKCA-BR 1 223967953 223967953 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 223967953 223967953 single base substitution C T downstream_gene_variant SKCA-BR 1 223968824 223968824 single base substitution C T intron_variant SKCA-BR 1 223972656 223972656 single base substitution G A intron_variant SKCA-BR 1 223978311 223978311 insertion of <=200bp - CT intron_variant SKCA-BR 1 223979212 223979212 single base substitution G A downstream_gene_variant SKCA-BR 1 223979212 223979212 single base substitution G A intron_variant SKCA-BR 1 223986015 223986015 single base substitution G A downstream_gene_variant SKCA-BR 1 223986015 223986015 single base substitution G A exon_variant SKCA-BR 1 223986015 223986015 single base substitution G A intron_variant SKCA-BR 1 223986015 223986015 single base substitution G A missense_variant S488F 1463C>T SKCA-BR 1 223986015 223986015 single base substitution G A missense_variant S617F 1850C>T SKCA-BR 1 223986285 223986285 single base substitution G C downstream_gene_variant SKCA-BR 1 223986285 223986285 single base substitution G C exon_variant SKCA-BR 1 223986285 223986285 single base substitution G C intron_variant SKCA-BR 1 223986285 223986285 single base substitution G C missense_variant P398R 1193C>G SKCA-BR 1 223986285 223986285 single base substitution G C missense_variant P527R 1580C>G SKCA-BR 1 223988063 223988063 single base substitution T G downstream_gene_variant SKCA-BR 1 223988063 223988063 single base substitution T G intron_variant SKCA-BR 1 223994242 223994242 single base substitution C G downstream_gene_variant SKCA-BR 1 223994242 223994242 single base substitution C G intron_variant SKCA-BR 1 223994242 223994242 single base substitution C G upstream_gene_variant SKCA-BR 1 224006601 224006601 single base substitution G A intron_variant SKCA-BR 1 224006601 224006601 single base substitution G A upstream_gene_variant SKCA-BR 1 224006886 224006887 deletion of <=200bp CA - intron_variant SKCA-BR 1 224006886 224006887 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 224007387 224007387 insertion of <=200bp - CA intron_variant SKCA-BR 1 224007799 224007799 single base substitution T A intron_variant SKCA-BR 1 224016501 224016506 deletion of <=200bp AAAGTT - intron_variant SKCA-BR 1 224016501 224016506 deletion of <=200bp AAAGTT - upstream_gene_variant SKCA-BR 1 224016520 224016520 single base substitution A G intron_variant SKCA-BR 1 224016520 224016520 single base substitution A G upstream_gene_variant SKCA-BR 1 224019101 224019101 insertion of <=200bp - CA intron_variant SKCA-BR 1 224022073 224022073 single base substitution T A intron_variant SKCA-BR 1 224027999 224027999 single base substitution T C intron_variant SKCA-BR 1 224033116 224033116 single base substitution T G intron_variant SKCA-BR 1 224037878 224037879 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 1 224037959 224037959 single base substitution G A upstream_gene_variant SKCM-US 1 223983600 223983600 single base substitution G A 3_prime_UTR_variant SKCM-US 1 223983600 223983600 single base substitution G A downstream_gene_variant SKCM-US 1 223983600 223983600 single base substitution G A exon_variant SKCM-US 1 223983600 223983600 single base substitution G A missense_variant P114S 340C>T SKCM-US 1 223983600 223983600 single base substitution G A missense_variant P214S 640C>T SKCM-US 1 223983600 223983600 single base substitution G A missense_variant P752S 2254C>T SKCM-US 1 223983600 223983600 single base substitution G A missense_variant P881S 2641C>T SKCM-US 1 223983955 223983955 single base substitution C T 3_prime_UTR_variant SKCM-US 1 223983955 223983955 single base substitution C T 5_prime_UTR_variant SKCM-US 1 223983955 223983955 single base substitution C T downstream_gene_variant SKCM-US 1 223983955 223983955 single base substitution C T exon_variant SKCM-US 1 223983955 223983955 single base substitution C T intron_variant SKCM-US 1 223983955 223983955 single base substitution C T synonymous_variant R633R 1899G>A SKCM-US 1 223983955 223983955 single base substitution C T synonymous_variant R762R 2286G>A SKCM-US 1 223984142 223984142 single base substitution G A 3_prime_UTR_variant SKCM-US 1 223984142 223984142 single base substitution G A 5_prime_UTR_variant SKCM-US 1 223984142 223984142 single base substitution G A downstream_gene_variant SKCM-US 1 223984142 223984142 single base substitution G A exon_variant SKCM-US 1 223984142 223984142 single base substitution G A intron_variant SKCM-US 1 223984142 223984142 single base substitution G A missense_variant P571L 1712C>T SKCM-US 1 223984142 223984142 single base substitution G A missense_variant P700L 2099C>T SKCM-US 1 223984185 223984185 single base substitution G A 3_prime_UTR_variant SKCM-US 1 223984185 223984185 single base substitution G A 5_prime_UTR_variant SKCM-US 1 223984185 223984185 single base substitution G A downstream_gene_variant SKCM-US 1 223984185 223984185 single base substitution G A exon_variant SKCM-US 1 223984185 223984185 single base substitution G A intron_variant SKCM-US 1 223984185 223984185 single base substitution G A missense_variant P557S 1669C>T SKCM-US 1 223984185 223984185 single base substitution G A missense_variant P686S 2056C>T SKCM-US 1 223984229 223984229 single base substitution G A 3_prime_UTR_variant SKCM-US 1 223984229 223984229 single base substitution G A 5_prime_UTR_variant SKCM-US 1 223984229 223984229 single base substitution G A downstream_gene_variant SKCM-US 1 223984229 223984229 single base substitution G A exon_variant SKCM-US 1 223984229 223984229 single base substitution G A intron_variant SKCM-US 1 223984229 223984229 single base substitution G A missense_variant S542F 1625C>T SKCM-US 1 223984229 223984229 single base substitution G A missense_variant S671F 2012C>T SKCM-US 1 223986192 223986192 single base substitution C T downstream_gene_variant SKCM-US 1 223986192 223986192 single base substitution C T exon_variant SKCM-US 1 223986192 223986192 single base substitution C T intron_variant SKCM-US 1 223986192 223986192 single base substitution C T missense_variant R429K 1286G>A SKCM-US 1 223986192 223986192 single base substitution C T missense_variant R558K 1673G>A SKCM-US 1 223987607 223987607 single base substitution A C 5_prime_UTR_variant SKCM-US 1 223987607 223987607 single base substitution A C downstream_gene_variant SKCM-US 1 223987607 223987607 single base substitution A C exon_variant SKCM-US 1 223987607 223987607 single base substitution A C intron_variant SKCM-US 1 223987607 223987607 single base substitution A C missense_variant D364E 1092T>G SKCM-US 1 223987607 223987607 single base substitution A C missense_variant D493E 1479T>G SKCM-US 1 223988497 223988497 single base substitution G A downstream_gene_variant SKCM-US 1 223988497 223988497 single base substitution G A exon_variant SKCM-US 1 223988497 223988497 single base substitution G A intron_variant SKCM-US 1 223988497 223988497 single base substitution G A missense_variant P285L 854C>T SKCM-US 1 223988497 223988497 single base substitution G A missense_variant P414L 1241C>T SKCM-US 1 223988497 223988497 single base substitution G A upstream_gene_variant SKCM-US 1 223988514 223988514 single base substitution T A downstream_gene_variant SKCM-US 1 223988514 223988514 single base substitution T A intron_variant SKCM-US 1 223988514 223988514 single base substitution T A splice_acceptor_variant SKCM-US 1 223988514 223988514 single base substitution T A upstream_gene_variant SKCM-US 1 223989873 223989873 single base substitution C T downstream_gene_variant SKCM-US 1 223989873 223989873 single base substitution C T exon_variant SKCM-US 1 223989873 223989873 single base substitution C T intron_variant SKCM-US 1 223989873 223989873 single base substitution C T synonymous_variant P261P 783G>A SKCM-US 1 223989873 223989873 single base substitution C T synonymous_variant P390P 1170G>A SKCM-US 1 223989873 223989873 single base substitution C T upstream_gene_variant SKCM-US 1 223990458 223990458 single base substitution G A downstream_gene_variant SKCM-US 1 223990458 223990458 single base substitution G A exon_variant SKCM-US 1 223990458 223990458 single base substitution G A intron_variant SKCM-US 1 223990458 223990458 single base substitution G A missense_variant A195V 584C>T SKCM-US 1 223990458 223990458 single base substitution G A missense_variant A324V 971C>T SKCM-US 1 223990458 223990458 single base substitution G A upstream_gene_variant SKCM-US 1 223991036 223991036 single base substitution G A downstream_gene_variant SKCM-US 1 223991036 223991036 single base substitution G A intron_variant SKCM-US 1 223991036 223991036 single base substitution G A synonymous_variant I127I 381C>T SKCM-US 1 223991036 223991036 single base substitution G A synonymous_variant I256I 768C>T SKCM-US 1 223991036 223991036 single base substitution G A upstream_gene_variant SKCM-US 1 223991102 223991102 single base substitution G A downstream_gene_variant SKCM-US 1 223991102 223991102 single base substitution G A intron_variant SKCM-US 1 223991102 223991102 single base substitution G A synonymous_variant L105L 315C>T SKCM-US 1 223991102 223991102 single base substitution G A synonymous_variant L234L 702C>T SKCM-US 1 223991102 223991102 single base substitution G A upstream_gene_variant SKCM-US 1 223991885 223991885 single base substitution C T downstream_gene_variant SKCM-US 1 223991885 223991885 single base substitution C T intron_variant SKCM-US 1 223991885 223991885 single base substitution C T missense_variant G214R 640G>A SKCM-US 1 223991885 223991885 single base substitution C T missense_variant G85R 253G>A SKCM-US 1 223991885 223991885 single base substitution C T upstream_gene_variant STAD-US 1 223971921 223971921 single base substitution C A 3_prime_UTR_variant STAD-US 1 223971921 223971921 single base substitution C A exon_variant STAD-US 1 223971921 223971921 single base substitution C A stop_gained G1087* 3259G>T STAD-US 1 223971921 223971921 single base substitution C A stop_gained G320* 958G>T STAD-US 1 223971921 223971921 single base substitution C A stop_gained G958* 2872G>T STAD-US 1 223971921 223971923 deletion of <=200bp CTT - 3_prime_UTR_variant STAD-US 1 223971921 223971923 deletion of <=200bp CTT - disruptive_inframe_deletion EG1086G STAD-US 1 223971921 223971923 deletion of <=200bp CTT - disruptive_inframe_deletion EG319G STAD-US 1 223971921 223971923 deletion of <=200bp CTT - disruptive_inframe_deletion EG957G STAD-US 1 223971921 223971923 deletion of <=200bp CTT - exon_variant STAD-US 1 223971971 223971971 single base substitution G A 3_prime_UTR_variant STAD-US 1 223971971 223971971 single base substitution G A exon_variant STAD-US 1 223971971 223971971 single base substitution G A missense_variant A1070V 3209C>T STAD-US 1 223971971 223971971 single base substitution G A missense_variant A303V 908C>T STAD-US 1 223971971 223971971 single base substitution G A missense_variant A941V 2822C>T STAD-US 1 223976852 223976852 single base substitution T C 3_prime_UTR_variant STAD-US 1 223976852 223976852 single base substitution T C exon_variant STAD-US 1 223976852 223976852 single base substitution T C synonymous_variant S1007S 3021A>G STAD-US 1 223976852 223976852 single base substitution T C synonymous_variant S240S 720A>G STAD-US 1 223976852 223976852 single base substitution T C synonymous_variant S878S 2634A>G STAD-US 1 223981100 223981100 single base substitution C T 3_prime_UTR_variant STAD-US 1 223981100 223981100 single base substitution C T downstream_gene_variant STAD-US 1 223981100 223981100 single base substitution C T exon_variant STAD-US 1 223981100 223981100 single base substitution C T missense_variant A156T 466G>A STAD-US 1 223981100 223981100 single base substitution C T missense_variant A794T 2380G>A STAD-US 1 223981100 223981100 single base substitution C T missense_variant A923T 2767G>A STAD-US 1 223983962 223983962 single base substitution T C 3_prime_UTR_variant STAD-US 1 223983962 223983962 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 223983962 223983962 single base substitution T C downstream_gene_variant STAD-US 1 223983962 223983962 single base substitution T C exon_variant STAD-US 1 223983962 223983962 single base substitution T C intron_variant STAD-US 1 223983962 223983962 single base substitution T C missense_variant Y631C 1892A>G STAD-US 1 223983962 223983962 single base substitution T C missense_variant Y760C 2279A>G STAD-US 1 223984003 223984003 single base substitution C T 3_prime_UTR_variant STAD-US 1 223984003 223984003 single base substitution C T 5_prime_UTR_variant STAD-US 1 223984003 223984003 single base substitution C T downstream_gene_variant STAD-US 1 223984003 223984003 single base substitution C T exon_variant STAD-US 1 223984003 223984003 single base substitution C T intron_variant STAD-US 1 223984003 223984003 single base substitution C T synonymous_variant E617E 1851G>A STAD-US 1 223984003 223984003 single base substitution C T synonymous_variant E746E 2238G>A STAD-US 1 223986208 223986208 single base substitution C T downstream_gene_variant STAD-US 1 223986208 223986208 single base substitution C T exon_variant STAD-US 1 223986208 223986208 single base substitution C T intron_variant STAD-US 1 223986208 223986208 single base substitution C T missense_variant A424T 1270G>A STAD-US 1 223986208 223986208 single base substitution C T missense_variant A553T 1657G>A STAD-US 1 223987704 223987704 single base substitution C T 5_prime_UTR_variant STAD-US 1 223987704 223987704 single base substitution C T downstream_gene_variant STAD-US 1 223987704 223987704 single base substitution C T exon_variant STAD-US 1 223987704 223987704 single base substitution C T intron_variant STAD-US 1 223987704 223987704 single base substitution C T missense_variant R332H 995G>A STAD-US 1 223987704 223987704 single base substitution C T missense_variant R461H 1382G>A STAD-US 1 223988509 223988509 single base substitution G T downstream_gene_variant STAD-US 1 223988509 223988509 single base substitution G T exon_variant STAD-US 1 223988509 223988509 single base substitution G T intron_variant STAD-US 1 223988509 223988509 single base substitution G T missense_variant S281Y 842C>A STAD-US 1 223988509 223988509 single base substitution G T missense_variant S410Y 1229C>A STAD-US 1 223988509 223988509 single base substitution G T upstream_gene_variant STAD-US 1 223989893 223989893 single base substitution T C downstream_gene_variant STAD-US 1 223989893 223989893 single base substitution T C exon_variant STAD-US 1 223989893 223989893 single base substitution T C intron_variant STAD-US 1 223989893 223989893 single base substitution T C missense_variant I255V 763A>G STAD-US 1 223989893 223989893 single base substitution T C missense_variant I384V 1150A>G STAD-US 1 223989893 223989893 single base substitution T C upstream_gene_variant STAD-US 1 223990025 223990025 single base substitution G A downstream_gene_variant STAD-US 1 223990025 223990025 single base substitution G A exon_variant STAD-US 1 223990025 223990025 single base substitution G A intron_variant STAD-US 1 223990025 223990025 single base substitution G A missense_variant P211S 631C>T STAD-US 1 223990025 223990025 single base substitution G A missense_variant P340S 1018C>T STAD-US 1 223990025 223990025 single base substitution G A upstream_gene_variant STAD-US 1 223991931 223991931 deletion of <=200bp T - downstream_gene_variant STAD-US 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K131 STAD-US 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K198 STAD-US 1 223991931 223991931 deletion of <=200bp T - frameshift_variant K69 STAD-US 1 223991931 223991931 deletion of <=200bp T - upstream_gene_variant STAD-US 1 224009062 224009062 single base substitution A G 5_prime_UTR_variant STAD-US 1 224009062 224009062 single base substitution A G exon_variant STAD-US 1 224009062 224009062 single base substitution A G intron_variant STAD-US 1 224009062 224009062 single base substitution A G missense_variant L12P 35T>C STAD-US 1 224009062 224009062 single base substitution A G upstream_gene_variant THCA-SA 1 223984011 223984011 single base substitution T C 3_prime_UTR_variant THCA-SA 1 223984011 223984011 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 1 223984011 223984011 single base substitution T C downstream_gene_variant THCA-SA 1 223984011 223984011 single base substitution T C exon_variant THCA-SA 1 223984011 223984011 single base substitution T C intron_variant THCA-SA 1 223984011 223984011 single base substitution T C missense_variant I615V 1843A>G THCA-SA 1 223984011 223984011 single base substitution T C missense_variant I744V 2230A>G UCEC-US 1 223971816 223971816 single base substitution C T splice_donor_variant UCEC-US 1 223971876 223971876 single base substitution C T 3_prime_UTR_variant UCEC-US 1 223971876 223971876 single base substitution C T exon_variant UCEC-US 1 223971876 223971876 single base substitution C T missense_variant E1102K 3304G>A UCEC-US 1 223971876 223971876 single base substitution C T missense_variant E335K 1003G>A UCEC-US 1 223971876 223971876 single base substitution C T missense_variant E973K 2917G>A UCEC-US 1 223971970 223971970 single base substitution C T 3_prime_UTR_variant UCEC-US 1 223971970 223971970 single base substitution C T exon_variant UCEC-US 1 223971970 223971970 single base substitution C T synonymous_variant A1070A 3210G>A UCEC-US 1 223971970 223971970 single base substitution C T synonymous_variant A303A 909G>A UCEC-US 1 223971970 223971970 single base substitution C T synonymous_variant A941A 2823G>A UCEC-US 1 223981018 223981018 single base substitution C A 3_prime_UTR_variant UCEC-US 1 223981018 223981018 single base substitution C A downstream_gene_variant UCEC-US 1 223981018 223981018 single base substitution C A exon_variant UCEC-US 1 223981018 223981018 single base substitution C A missense_variant R183I 548G>T UCEC-US 1 223981018 223981018 single base substitution C A missense_variant R821I 2462G>T UCEC-US 1 223981018 223981018 single base substitution C A missense_variant R950I 2849G>T UCEC-US 1 223983821 223983821 single base substitution A G 3_prime_UTR_variant UCEC-US 1 223983821 223983821 single base substitution A G downstream_gene_variant UCEC-US 1 223983821 223983821 single base substitution A G exon_variant UCEC-US 1 223983821 223983821 single base substitution A G missense_variant V140A 419T>C UCEC-US 1 223983821 223983821 single base substitution A G missense_variant V40A 119T>C UCEC-US 1 223983821 223983821 single base substitution A G missense_variant V678A 2033T>C UCEC-US 1 223983821 223983821 single base substitution A G missense_variant V807A 2420T>C UCEC-US 1 223983834 223983834 single base substitution C T 3_prime_UTR_variant UCEC-US 1 223983834 223983834 single base substitution C T downstream_gene_variant UCEC-US 1 223983834 223983834 single base substitution C T exon_variant UCEC-US 1 223983834 223983834 single base substitution C T intron_variant UCEC-US 1 223983834 223983834 single base substitution C T missense_variant E36K 106G>A UCEC-US 1 223983834 223983834 single base substitution C T missense_variant E674K 2020G>A UCEC-US 1 223983834 223983834 single base substitution C T missense_variant E803K 2407G>A UCEC-US 1 223984065 223984065 single base substitution C T 3_prime_UTR_variant UCEC-US 1 223984065 223984065 single base substitution C T 5_prime_UTR_variant UCEC-US 1 223984065 223984065 single base substitution C T downstream_gene_variant UCEC-US 1 223984065 223984065 single base substitution C T exon_variant UCEC-US 1 223984065 223984065 single base substitution C T intron_variant UCEC-US 1 223984065 223984065 single base substitution C T missense_variant A597T 1789G>A UCEC-US 1 223984065 223984065 single base substitution C T missense_variant A726T 2176G>A UCEC-US 1 223985959 223985959 single base substitution C T downstream_gene_variant UCEC-US 1 223985959 223985959 single base substitution C T exon_variant UCEC-US 1 223985959 223985959 single base substitution C T intron_variant UCEC-US 1 223985959 223985959 single base substitution C T missense_variant A507T 1519G>A UCEC-US 1 223985959 223985959 single base substitution C T missense_variant A636T 1906G>A UCEC-US 1 223985970 223985970 single base substitution G A downstream_gene_variant UCEC-US 1 223985970 223985970 single base substitution G A exon_variant UCEC-US 1 223985970 223985970 single base substitution G A intron_variant UCEC-US 1 223985970 223985970 single base substitution G A missense_variant A503V 1508C>T UCEC-US 1 223985970 223985970 single base substitution G A missense_variant A632V 1895C>T UCEC-US 1 223989907 223989907 single base substitution T C downstream_gene_variant UCEC-US 1 223989907 223989907 single base substitution T C exon_variant UCEC-US 1 223989907 223989907 single base substitution T C intron_variant UCEC-US 1 223989907 223989907 single base substitution T C missense_variant D250G 749A>G UCEC-US 1 223989907 223989907 single base substitution T C missense_variant D379G 1136A>G UCEC-US 1 223989907 223989907 single base substitution T C upstream_gene_variant UCEC-US 1 223991077 223991077 single base substitution C A downstream_gene_variant UCEC-US 1 223991077 223991077 single base substitution C A intron_variant UCEC-US 1 223991077 223991077 single base substitution C A stop_gained E114* 340G>T UCEC-US 1 223991077 223991077 single base substitution C A stop_gained E243* 727G>T UCEC-US 1 223991077 223991077 single base substitution C A upstream_gene_variant UCEC-US 1 223991924 223991924 single base substitution C A downstream_gene_variant UCEC-US 1 223991924 223991924 single base substitution C A missense_variant A134S 400G>T UCEC-US 1 223991924 223991924 single base substitution C A missense_variant A201S 601G>T UCEC-US 1 223991924 223991924 single base substitution C A missense_variant A72S 214G>T UCEC-US 1 223991924 223991924 single base substitution C A upstream_gene_variant UCEC-US 1 223994597 223994597 single base substitution G T downstream_gene_variant UCEC-US 1 223994597 223994597 single base substitution G T exon_variant UCEC-US 1 223994597 223994597 single base substitution G T missense_variant S13Y 38C>A UCEC-US 1 223994597 223994597 single base substitution G T missense_variant S142Y 425C>A UCEC-US 1 223994597 223994597 single base substitution G T missense_variant S75Y 224C>A UCEC-US 1 223994597 223994597 single base substitution G T upstream_gene_variant UCEC-US 1 223998179 223998179 single base substitution C A 3_prime_UTR_variant UCEC-US 1 223998179 223998179 single base substitution C A 5_prime_UTR_variant UCEC-US 1 223998179 223998179 single base substitution C A downstream_gene_variant UCEC-US 1 223998179 223998179 single base substitution C A exon_variant UCEC-US 1 223998179 223998179 single base substitution C A missense_variant R109I 326G>T UCEC-US 1 223998179 223998179 single base substitution C A missense_variant R42I 125G>T UCEC-US 1 224002031 224002031 single base substitution C T 5_prime_UTR_variant UCEC-US 1 224002031 224002031 single base substitution C T exon_variant UCEC-US 1 224002031 224002031 single base substitution C T missense_variant R67Q 200G>A UCEC-US 1 224002031 224002031 single base substitution C T upstream_gene_variant UCEC-US 1 224008970 224008970 single base substitution C A 5_prime_UTR_variant UCEC-US 1 224008970 224008970 single base substitution C A exon_variant UCEC-US 1 224008970 224008970 single base substitution C A intron_variant UCEC-US 1 224008970 224008970 single base substitution C A stop_gained E43* 127G>T UCEC-US 1 224008970 224008970 single base substitution C A upstream_gene_variant UCEC-US 1 224008996 224008996 single base substitution C T 5_prime_UTR_variant UCEC-US 1 224008996 224008996 single base substitution C T exon_variant UCEC-US 1 224008996 224008996 single base substitution C T intron_variant UCEC-US 1 224008996 224008996 single base substitution C T missense_variant C34Y 101G>A UCEC-US 1 224008996 224008996 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_142 COSM5643647 c.1013A>G p.N338S Substitution - Missense 1:223802328-223802328 - CN-AML-CR-33-Dx COSM5425067 c.542G>A p.R181H Substitution - Missense 1:223802798-223802798 - TCGA-CW-5583-01 COSM463999 c.2001A>T p.P667P Substitution - coding silent 1:223796151-223796151 - TCGA-DK-A3IT-01 COSM1295915 c.2176G>A p.E726K Substitution - Missense 1:223795976-223795976 - T2932 COSM4735466 c.2058T>C p.P686P Substitution - coding silent 1:223796481-223796481 - TCGA-AM-5821-01 COSM3735955 c.685C>A p.Q229K Substitution - Missense 1:223803417-223803417 - CSCC-42-T COSM4457435 c.657C>T p.S219S Substitution - coding silent 1:223802297-223802297 - S02295 COSM5689023 c.2969A>G p.N990S Substitution - Missense 1:223792416-223792416 - EOPC-01_tumor COSM3716435 c.1193C>T p.P398L Substitution - Missense 1:223798583-223798583 - HCT15 COSM1960595 c.1701G>A p.S567S Substitution - coding silent 1:223798462-223798462 - p1_II-2 COSM1738215 c.906A>C p.S302S Substitution - coding silent 1:223802821-223802821 - TCGA-EE-A3AE-06 COSM3484160 c.315C>T p.L105L Substitution - coding silent 1:223803400-223803400 - CSCC-31-T COSM1960595 c.1701G>A p.S567S Substitution - coding silent 1:223798462-223798462 - TCGA-E9-A5FL-01 COSM3804039 c.2324C>G p.S775* Substitution - Nonsense 1:223796215-223796215 - TCGA-CG-5733-01 COSM4028599 c.2767G>A p.A923T Substitution - Missense 1:223793398-223793398 - TCGA-FS-A4F0-06 COSM3484155 c.971C>T p.A324V Substitution - Missense 1:223802756-223802756 - RK212_C01 COSM3741039 c.2338-5T>C p.? Unknown 1:223793445-223793445 - CN-AML-CR-45-Dx COSM5424346 c.2969A>C p.N990T Substitution - Missense 1:223792416-223792416 - TCGA-AP-A051-01 COSM904466 c.214G>T p.A72S Substitution - Missense 1:223804222-223804222 - TCGA-24-0966-01 COSM76789 c.2479G>C p.D827H Substitution - Missense 1:223792519-223792519 - TCGA-61-2003-01 COSM80669 c.1392C>T p.P464P Substitution - coding silent 1:223798384-223798384 - TCGA-EE-A2GP-06 COSM3484140 c.2254C>T p.P752S Substitution - Missense 1:223795898-223795898 - LS180 COSM1960572 c.2246delC p.P749fs*16 Deletion - Frameshift 1:223795906-223795906 - CSCC-10-T COSM4537295 c.2401G>A p.E801K Substitution - Missense 1:223796138-223796138 - PT38 COSM5922118 c.2062G>A p.E688K Substitution - Missense 1:223796090-223796090 - YUSMI COSM5379770 c.2132C>T p.P711L Substitution - Missense 1:223796020-223796020 - TCGA-A8-A07I-01 COSM425415 c.747G>C p.E249D Substitution - Missense 1:223803355-223803355 - Pat_26_A COSM3934512 c.1765C>T p.R589W Substitution - Missense 1:223798398-223798398 - TCGA-AA-3672-01 COSM267623 c.1812C>T p.N604N Substitution - coding silent 1:223796340-223796340 - TCGA-BR-8680-01 COSM4028603 c.2238G>A p.E746E Substitution - coding silent 1:223796301-223796301 - TCGA-BR-8680-01 COSM4028610 c.842C>A p.S281Y Substitution - Missense 1:223800807-223800807 - TCGA-CC-A7IJ-01 COSM4924513 c.2329C>G p.P777A Substitution - Missense 1:223796210-223796210 - Pat_24_A COSM5037453 c.811C>T p.R271C Substitution - Missense 1:223803291-223803291 - KM12 COSM1668508 c.196A>G p.K66E Substitution - Missense 1:223804240-223804240 - TCGA-D9-A4Z3-01 COSM3484149 c.1241C>T p.P414L Substitution - Missense 1:223800795-223800795 - 3N25-VS-3T25 COSM4979894 c.2924C>T p.A975V Substitution - Missense 1:223792461-223792461 - 61 COSM5735849 c.736C>T p.P246S Substitution - Missense 1:223802218-223802218 - ATL043 COSM5705235 c.2238C>A p.Y746* Substitution - Nonsense 1:223795914-223795914 - CSCC-10-T COSM4537296 c.2014G>A p.E672K Substitution - Missense 1:223796138-223796138 - NCI-H1770 COSM13959 c.1044C>T p.S348S Substitution - coding silent 1:223799953-223799953 - TCGA-CW-6093-01 COSM464000 c.2286G>A p.R762R Substitution - coding silent 1:223796253-223796253 - TCGA-AA-A01P-01 COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - S00838 COSM5661355 c.573G>A p.K191K Substitution - coding silent 1:223802767-223802767 - C0020T COSM4135981 c.2188C>G p.P730A Substitution - Missense 1:223795964-223795964 - PDA_006 COSM4998136 c.1980G>T p.Q660H Substitution - Missense 1:223796559-223796559 - Pat_53_B COSM5845620 c.1208C>T p.A403V Substitution - Missense 1:223802133-223802133 - PT38 COSM5922117 c.2449G>A p.E817K Substitution - Missense 1:223796090-223796090 - TCGA-EE-A2GP-06 COSM3484139 c.2641C>T p.P881S Substitution - Missense 1:223795898-223795898 - BD72T COSM1960566 c.2410delC p.A805fs*4 Deletion - Frameshift 1:223793368-223793368 - TCGA-K4-A3WV-01 COSM3789533 c.1715G>A p.R572Q Substitution - Missense 1:223796437-223796437 - TCGA-BS-A0UF-01 COSM904462 c.340G>T p.E114* Substitution - Nonsense 1:223803375-223803375 - PDA_006 COSM4998137 c.1593G>T p.Q531H Substitution - Missense 1:223796559-223796559 - sysucc-274T COSM5475639 c.2149C>T p.R717* Substitution - Nonsense 1:223796390-223796390 - BD72T COSM1960565 c.2797delC p.A934fs*4 Deletion - Frameshift 1:223793368-223793368 - HCC013T COSM5807512 c.2531C>A p.P844Q Substitution - Missense 1:223796008-223796008 - 8016470 COSM3385782 c.2489G>T p.S830I Substitution - Missense 1:223792509-223792509 - TCGA-D1-A17Q-01 COSM904460 c.749A>G p.D250G Substitution - Missense 1:223802205-223802205 - BD124T COSM5491281 c.1337-9delT p.? Unknown 1:223800056-223800056 - TCGA-FS-A1ZD-06 COSM3484148 c.1286G>A p.R429K Substitution - Missense 1:223798490-223798490 - cSCCP1 COSM143440 c.2254_2255CC>TT p.P752L Substitution - Missense 1:223795897-223795898 - CSCC-42-T COSM4541368 c.2606G>A p.G869E Substitution - Missense 1:223792392-223792392 - RDES COSM4576948 c.369C>T p.N123N Substitution - coding silent 1:223810434-223810434 - TCGA-AP-A051-01 COSM904441 c.3210G>A p.A1070A Substitution - coding silent 1:223784268-223784268 - HCC159T COSM5806772 c.1290G>C p.V430V Substitution - coding silent 1:223798486-223798486 - 1517_CLM COSM5754356 c.1784T>C p.L595P Substitution - Missense 1:223796368-223796368 - 2476_PT COSM5754357 c.424T>A p.S142T Substitution - Missense 1:223806896-223806896 - C13 COSM5037454 c.424C>T p.R142C Substitution - Missense 1:223803291-223803291 - CSCC-31-T COSM1960596 c.1314G>A p.S438S Substitution - coding silent 1:223798462-223798462 - ASHPC_0029_Pa_P COSM3785160 c.1787C>T p.S596F Substitution - Missense 1:223798376-223798376 - TCGA-D1-A174-01 COSM904472 c.101G>A p.C34Y Substitution - Missense 1:223821294-223821294 - TCGA-HC-7233-01 COSM3671633 c.1619C>T p.S540L Substitution - Missense 1:223798544-223798544 - TCGA-K4-A3WV-01 COSM3789532 c.2102G>A p.R701Q Substitution - Missense 1:223796437-223796437 - 6P2-2 COSM3734177 c.3326A>T p.N1109I Substitution - Missense 1:223784152-223784152 - TCGA-BR-8382-01 COSM4028615 c.35T>C p.L12P Substitution - Missense 1:223821360-223821360 - sysucc-274T COSM5475640 c.1762C>T p.R588* Substitution - Nonsense 1:223796390-223796390 - TCGA-BR-8680-01 COSM4028609 c.1229C>A p.S410Y Substitution - Missense 1:223800807-223800807 - 2492709 COSM5730187 c.956_957ins25 p.W319fs*2 Insertion - Frameshift 1:223802770-223802771 - TCGA-AP-A056-01 COSM904437 c.3363+1G>A p.? Unknown 1:223784114-223784114 - TCGA-BP-4164-01 COSM1134814 c.2618C>T p.P873L Substitution - Missense 1:223795921-223795921 - TCGA-EE-A29N-06 COSM3484145 c.2012C>T p.S671F Substitution - Missense 1:223796527-223796527 - TCGA-BT-A2LB-01 COSM3789537 c.1284G>A p.P428P Substitution - coding silent 1:223798492-223798492 - TCGA-AA-3811-01 COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - PT33 COSM5908035 c.1630C>T p.P544S Substitution - Missense 1:223798533-223798533 - ACINAR09 COSM1733913 c.1520C>A p.P507H Substitution - Missense 1:223798643-223798643 - TCGA-AY-6197-01 COSM1339139 c.1036G>A p.A346T Substitution - Missense 1:223802305-223802305 - KM12 COSM1668507 c.583A>G p.K195E Substitution - Missense 1:223804240-223804240 - 2476_PT COSM5754358 c.37T>A p.S13T Substitution - Missense 1:223806896-223806896 - 585205 COSM323947 c.2114C>G p.P705R Substitution - Missense 1:223796425-223796425 - Pat_53_B COSM4576947 c.207delA p.V70fs*1 Deletion - Frameshift 1:223804229-223804229 - BD124T COSM5491282 c.950-9delT p.? Unknown 1:223800056-223800056 - TCGA-D1-A17F-01 COSM904464 c.323C>A p.A108D Substitution - Missense 1:223803392-223803392 - TCGA-AX-A05Z-01 COSM904467 c.425C>A p.S142Y Substitution - Missense 1:223806895-223806895 - LUAD-S01345 COSM397096 c.2889C>T p.I963I Substitution - coding silent 1:223784202-223784202 - 587376 COSM1230124 c.2510A>C p.D837A Substitution - Missense 1:223796029-223796029 - TCGA-A6-6781-01 COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - 11M COSM323949 c.1700C>T p.S567L Substitution - Missense 1:223798463-223798463 - TCGA-CH-5766-01 COSM1127132 c.2796C>A p.G932G Substitution - coding silent 1:223784295-223784295 - 587224 COSM1230120 c.2771A>G p.H924R Substitution - Missense 1:223793394-223793394 - TCGA-D9-A4Z3-01 COSM3484150 c.854C>T p.P285L Substitution - Missense 1:223800795-223800795 - 07-058 COSM3735955 c.685C>A p.Q229K Substitution - Missense 1:223803417-223803417 - HCC113T COSM5808414 c.2064G>A p.E688E Substitution - coding silent 1:223796088-223796088 - TCGA-B5-A0JY-01 COSM904469 c.326G>T p.R109I Substitution - Missense 1:223810477-223810477 - KM12 COSM1668508 c.196A>G p.K66E Substitution - Missense 1:223804240-223804240 - TCGA-43-5668-01 COSM679406 c.1194C>T p.N398N Substitution - coding silent 1:223802147-223802147 - T2932 COSM4735467 c.1671T>C p.P557P Substitution - coding silent 1:223796481-223796481 - pfg181T COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - CSCC-49-T COSM4449161 c.1760_1762delCCG p.A587delA Deletion - In frame 1:223798401-223798403 - TCGA-AZ-6598-01 COSM1339148 c.275delC p.P92fs*6 Deletion - Frameshift 1:223814254-223814254 - CSCC-41-T COSM4463256 c.1283C>T p.P428L Substitution - Missense 1:223800753-223800753 - TCGA-D3-A51J-06 COSM464000 c.2286G>A p.R762R Substitution - coding silent 1:223796253-223796253 - TCGA-A6-6141-01 COSM1339142 c.425G>A p.R142H Substitution - Missense 1:223803290-223803290 - TCGA-BR-7851-01 COSM4028598 c.2634A>G p.S878S Substitution - coding silent 1:223789150-223789150 - YUSMI COSM5379769 c.2519C>T p.P840L Substitution - Missense 1:223796020-223796020 - T2932 COSM4735465 c.2357G>A p.R786H Substitution - Missense 1:223793421-223793421 - PT46 COSM5928212 c.908C>T p.S303F Substitution - Missense 1:223800741-223800741 - TCGA-D1-A167-01 COSM904451 c.1906G>A p.A636T Substitution - Missense 1:223798257-223798257 - TCGA-EK-A3GM-01 COSM4823243 c.1339G>A p.D447N Substitution - Missense 1:223800045-223800045 - TCGA-D5-6930-01 COSM1339149 c.220C>T p.R74* Substitution - Nonsense 1:223814309-223814309 - p1_II-2 COSM1738216 c.519A>C p.S173S Substitution - coding silent 1:223802821-223802821 - HCT8 COSM1960596 c.1314G>A p.S438S Substitution - coding silent 1:223798462-223798462 - GC3_T COSM3748470 c.2228A>C p.Y743S Substitution - Missense 1:223795924-223795924 - YUMOBER COSM5379772 c.807C>G p.N269K Substitution - Missense 1:223802147-223802147 - TCGA-CD-5801-01 COSM210120 c.2822C>T p.A941V Substitution - Missense 1:223784269-223784269 - HCT15 COSM1960596 c.1314G>A p.S438S Substitution - coding silent 1:223798462-223798462 - TCGA-A8-A08R-01 COSM425414 c.766C>G p.Q256E Substitution - Missense 1:223802188-223802188 - TCGA-EE-A3J3-06 COSM3864563 c.1092T>G p.D364E Substitution - Missense 1:223799905-223799905 - HCC013T COSM5807513 c.2144C>A p.P715Q Substitution - Missense 1:223796008-223796008 - TCGA-BR-7715-01 COSM4028602 c.1892A>G p.Y631C Substitution - Missense 1:223796260-223796260 - TCGA-K4-A3WS-01 COSM3789538 c.412C>T p.Q138* Substitution - Nonsense 1:223806908-223806908 - TCGA-AK-3460-01 COSM3360698 c.1708C>A p.Q570K Substitution - Missense 1:223798455-223798455 - 61 COSM5735848 c.1123C>T p.P375S Substitution - Missense 1:223802218-223802218 - TCGA-B5-A11E-01 COSM904445 c.2420T>C p.V807A Substitution - Missense 1:223796119-223796119 - TCGA-EE-A3AE-06 COSM3484159 c.702C>T p.L234L Substitution - coding silent 1:223803400-223803400 - 1517_CLM COSM5754355 c.2171T>C p.L724P Substitution - Missense 1:223796368-223796368 - PAPNNX COSM5005132 c.1828G>A p.V610M Substitution - Missense 1:223798335-223798335 - CSCC-41-T COSM4463257 c.896C>T p.P299L Substitution - Missense 1:223800753-223800753 - TCGA-CG-5733-01 COSM4028600 c.2380G>A p.A794T Substitution - Missense 1:223793398-223793398 - I2L-P19Ta-Tumor-Biopsy COSM5352426 c.1496delA p.N499fs*10 Deletion - Frameshift 1:223798280-223798280 - TCGA-CM-6676-01 COSM1339144 c.321G>T p.L107L Substitution - coding silent 1:223803394-223803394 - T368 COSM4735462 c.3266G>T p.C1089F Substitution - Missense 1:223784212-223784212 - TCGA-CW-5583-01 COSM463998 c.2388A>T p.P796P Substitution - coding silent 1:223796151-223796151 - SNUH_G10_S1 COSM3997284 c.2640C>T p.N880N Substitution - coding silent 1:223789144-223789144 - 8016470 COSM210120 c.2822C>T p.A941V Substitution - Missense 1:223784269-223784269 - TCGA-IR-A3LA-01 COSM4844908 c.2865G>T p.M955I Substitution - Missense 1:223784226-223784226 - TCGA-DD-A4NN-01 COSM4935248 c.3001C>G p.Q1001E Substitution - Missense 1:223780870-223780870 - TCGA-QG-A5Z2-01 COSM5186877 c.1475G>A p.R492Q Substitution - Missense 1:223799909-223799909 - ESCC_142 COSM5643648 c.626A>G p.N209S Substitution - Missense 1:223802328-223802328 - AOCS-092-3-3 COSM3943492 c.3402C>T p.A1134A Substitution - coding silent 1:223780856-223780856 - TCGA-B1-A656-01 COSM4414021 c.2223G>T p.E741D Substitution - Missense 1:223795929-223795929 - RK245_C01 COSM3785158 c.2837A>G p.D946G Substitution - Missense 1:223793328-223793328 - TCGA-AK-3460-01 COSM3360699 c.1321C>A p.Q441K Substitution - Missense 1:223798455-223798455 - Gp2D COSM1960661 c.195T>A p.N65K Substitution - Missense 1:223814334-223814334 - p1_I-2 COSM1738215 c.906A>C p.S302S Substitution - coding silent 1:223802821-223802821 - TCGA-FS-A4FC-06 COSM3484157 c.768C>T p.I256I Substitution - coding silent 1:223803334-223803334 - TCGA-AA-A022-01 COSM5124295 c.1767G>T p.R589R Substitution - coding silent 1:223798396-223798396 - TCGA-D1-A17Q-01 COSM904459 c.1136A>G p.D379G Substitution - Missense 1:223802205-223802205 - TCGA-FS-A4F0-06 COSM3484156 c.584C>T p.A195V Substitution - Missense 1:223802756-223802756 - 2492729 COSM5728108 c.86C>T p.T29I Substitution - Missense 1:223821309-223821309 - TCGA-AA-3815-01 COSM1339137 c.1511T>C p.V504A Substitution - Missense 1:223798652-223798652 - 20 COSM5015931 c.111_135del25 p.K37fs*12 Deletion - Frameshift 1:223804301-223804325 - LS174T COSM1960571 c.2633delC p.P878fs*16 Deletion - Frameshift 1:223795906-223795906 - TCGA-CG-4305-01 COSM4028606 c.1270G>A p.A424T Substitution - Missense 1:223798506-223798506 - HX32T COSM3705555 c.1500C>A p.F500L Substitution - Missense 1:223798276-223798276 - 2492710 COSM5730187 c.956_957ins25 p.W319fs*2 Insertion - Frameshift 1:223802770-223802771 - TCGA-H4-A2HQ-01 COSM1295912 c.3007C>T p.H1003Y Substitution - Missense 1:223789164-223789164 - KM12 COSM1668507 c.583A>G p.K195E Substitution - Missense 1:223804240-223804240 - TCGA-EK-A3GM-01 COSM4823244 c.952G>A p.D318N Substitution - Missense 1:223800045-223800045 - TCGA-DD-A73D-01 COSM4935341 c.57T>G p.N19K Substitution - Missense 1:223821338-223821338 - SKCO-1 COSM1960593 c.1859C>T p.T620M Substitution - Missense 1:223798304-223798304 - TCGA-GC-A3BM-01 COSM3789535 c.1567G>A p.G523S Substitution - Missense 1:223796585-223796585 - TCGA-D1-A17F-01 COSM904463 c.710C>A p.A237D Substitution - Missense 1:223803392-223803392 - TCGA-BG-A0M4-01 COSM904450 c.1789G>A p.A597T Substitution - Missense 1:223796363-223796363 - STC252 COSM5053131 c.530C>T p.A177V Substitution - Missense 1:223804293-223804293 - 8058178 COSM3385783 c.354T>G p.Y118* Substitution - Nonsense 1:223810449-223810449 - ASHPC_0029_Pa_P COSM3785161 c.1400C>T p.S467F Substitution - Missense 1:223798376-223798376 - p1_II-1 COSM1738215 c.906A>C p.S302S Substitution - coding silent 1:223802821-223802821 - TCGA-A6-6141-01 COSM1339141 c.812G>A p.R271H Substitution - Missense 1:223803290-223803290 - TCGA-BQ-7059-01 COSM3984763 c.1755T>C p.N585N Substitution - coding silent 1:223796397-223796397 - ACINAR26 COSM1733911 c.3189G>A p.M1063I Substitution - Missense 1:223784289-223784289 - TCGA-AP-A051-01 COSM904465 c.601G>T p.A201S Substitution - Missense 1:223804222-223804222 - PD11349a COSM5792991 c.1612G>T p.E538* Substitution - Nonsense 1:223796540-223796540 - TCGA-43-5668-01 COSM679407 c.807C>T p.N269N Substitution - coding silent 1:223802147-223802147 - 2334188 COSM323948 c.1313C>T p.S438L Substitution - Missense 1:223798463-223798463 - S02375 COSM5696348 c.2473G>A p.E825K Substitution - Missense 1:223793305-223793305 - 7313 COSM5616715 c.2397G>A p.V799V Substitution - coding silent 1:223793381-223793381 - 116 COSM5010733 c.2267C>T p.P756L Substitution - Missense 1:223795885-223795885 - TCGA-AP-A051-01 COSM904442 c.2823G>A p.A941A Substitution - coding silent 1:223784268-223784268 - TCGA-B5-A0JY-01 COSM904471 c.127G>T p.E43* Substitution - Nonsense 1:223821268-223821268 - TCGA-BS-A0UF-01 COSM904461 c.727G>T p.E243* Substitution - Nonsense 1:223803375-223803375 - TCGA-AM-5821-01 COSM3735956 c.298C>A p.Q100K Substitution - Missense 1:223803417-223803417 - T1221 COSM4735469 c.1069A>G p.S357G Substitution - Missense 1:223799928-223799928 - ME009T COSM222648 c.692C>T p.S231F Substitution - Missense 1:223802262-223802262 - Pat_63_B COSM5845619 c.1933C>T p.P645S Substitution - Missense 1:223796219-223796219 - LS411 COSM1960565 c.2797delC p.A934fs*4 Deletion - Frameshift 1:223793368-223793368 - LUAD-S01345 COSM397095 c.3276C>T p.I1092I Substitution - coding silent 1:223784202-223784202 - 6P2-1 COSM3734178 c.2939A>T p.N980I Substitution - Missense 1:223784152-223784152 - T3724 COSM4735471 c.351G>A p.R117R Substitution - coding silent 1:223803364-223803364 - S00501 COSM316087 c.1017A>G p.A339A Substitution - coding silent 1:223799980-223799980 - 8065126 COSM4389827 c.1088C>T p.P363L Substitution - Missense 1:223802253-223802253 - S00501 COSM316088 c.1404A>G p.A468A Substitution - coding silent 1:223799980-223799980 - 6P2-1 COSM3734177 c.3326A>T p.N1109I Substitution - Missense 1:223784152-223784152 - TCGA-EE-A3AG-06 COSM3484162 c.253G>A p.G85R Substitution - Missense 1:223804183-223804183 - ESCC-123T COSM3934512 c.1765C>T p.R589W Substitution - Missense 1:223798398-223798398 - TCGA-BR-4361-01 COSM4028607 c.1382G>A p.R461H Substitution - Missense 1:223800002-223800002 - TCGA-CM-6676-01 COSM1339143 c.708G>T p.L236L Substitution - coding silent 1:223803394-223803394 - C0048T COSM4422662 c.2778A>G p.G926G Substitution - coding silent 1:223784313-223784313 - TCGA-MI-A75E-01 COSM4939708 c.2092A>T p.S698C Substitution - Missense 1:223796060-223796060 - TCGA-AA-3994-01 COSM298163 c.178C>T p.R60C Substitution - Missense 1:223814351-223814351 - HCC079T COSM5807914 c.14T>C p.L5P Substitution - Missense 1:223806919-223806919 - Gp5D COSM1960661 c.195T>A p.N65K Substitution - Missense 1:223814334-223814334 - CHC892T COSM4959181 c.438G>A p.E146E Substitution - coding silent 1:223803277-223803277 - TCGA-BR-6452-01 COSM4028595 c.3259G>T p.G1087* Substitution - Nonsense 1:223784219-223784219 - NCI-H1770 COSM13959 c.1044C>T p.S348S Substitution - coding silent 1:223799953-223799953 - TCGA-D1-A176-01 COSM904456 c.1015G>A p.A339T Substitution - Missense 1:223799982-223799982 - CHC433T COSM3746814 c.3318G>A p.A1106A Substitution - coding silent 1:223784160-223784160 - C008 COSM5524058 c.1751C>T p.S584F Substitution - Missense 1:223796401-223796401 - YUWAND COSM1689903 c.595A>G p.K199E Substitution - Missense 1:223802745-223802745 - 1848_T COSM3977082 c.1932G>T p.G644G Substitution - coding silent 1:223798231-223798231 - GC3_T COSM3748469 c.2615A>C p.Y872S Substitution - Missense 1:223795924-223795924 - TCGA-BR-7715-01 COSM4028601 c.2279A>G p.Y760C Substitution - Missense 1:223796260-223796260 - Pat_06_A COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - TCGA-24-0966-01 COSM4947075 c.2866G>C p.D956H Substitution - Missense 1:223792519-223792519 - 7313 COSM5616714 c.2784G>A p.V928V Substitution - coding silent 1:223793381-223793381 - SC_9081 COSM5567110 c.3320G>A p.R1107H Substitution - Missense 1:223784158-223784158 - PD11349a COSM5792990 c.1999G>T p.E667* Substitution - Nonsense 1:223796540-223796540 - TCGA-AZ-6598-01 COSM1339131 c.2956C>T p.Q986* Substitution - Nonsense 1:223792429-223792429 - YUKAT COSM5379768 c.2153G>A p.S718N Substitution - Missense 1:223795999-223795999 - CSCC-42-T COSM4541367 c.2993G>A p.G998E Substitution - Missense 1:223792392-223792392 - Pat_66_A COSM4028607 c.1382G>A p.R461H Substitution - Missense 1:223800002-223800002 - TCGA-EJ-7782-01 COSM3782435 c.3292G>A p.E1098K Substitution - Missense 1:223784186-223784186 - TCGA-AC-A23H-01 COSM3804042 c.1004C>T p.S335L Substitution - Missense 1:223799993-223799993 - YUWAND COSM1689902 c.982A>G p.K328E Substitution - Missense 1:223802745-223802745 - p1_II-1 COSM1738216 c.519A>C p.S173S Substitution - coding silent 1:223802821-223802821 - TCGA-BG-A0M4-01 COSM904449 c.2176G>A p.A726T Substitution - Missense 1:223796363-223796363 - CN-AML-CR-33-Dx COSM5425066 c.929G>A p.R310H Substitution - Missense 1:223802798-223802798 - TCGA-BT-A2LB-01 COSM3789536 c.1671G>A p.P557P Substitution - coding silent 1:223798492-223798492 - TCGA-DK-A3X1-01 COSM3789528 c.2324C>A p.S775* Substitution - Nonsense 1:223796215-223796215 - 8016470 COSM3385781 c.2876G>T p.S959I Substitution - Missense 1:223792509-223792509 - TCGA-BR-8680-01 COSM4028604 c.1851G>A p.E617E Substitution - coding silent 1:223796301-223796301 - CHC433T COSM3746815 c.2931G>A p.A977A Substitution - coding silent 1:223784160-223784160 - TCGA-AR-A24N-01 COSM1473437 c.3279C>G p.I1093M Substitution - Missense 1:223784199-223784199 - TCGA-BR-4361-01 COSM4028608 c.995G>A p.R332H Substitution - Missense 1:223800002-223800002 - 587376 COSM1230122 c.3155T>G p.F1052C Substitution - Missense 1:223789016-223789016 - TCGA-B5-A0K9-01 COSM904457 c.1344T>C p.D448D Substitution - coding silent 1:223800040-223800040 - HX32T COSM3705554 c.1887C>A p.F629L Substitution - Missense 1:223798276-223798276 - PD4601a COSM4809826 c.2228C>G p.S743C Substitution - Missense 1:223796311-223796311 - ESCC_86 COSM1339149 c.220C>T p.R74* Substitution - Nonsense 1:223814309-223814309 - TCGA-BR-7851-01 COSM4028597 c.3021A>G p.S1007S Substitution - coding silent 1:223789150-223789150 - TCGA-AP-A051-01 COSM904454 c.1508C>T p.A503V Substitution - Missense 1:223798268-223798268 - TCGA-CK-4951-01 COSM5147045 c.2923G>A p.A975T Substitution - Missense 1:223792462-223792462 - TCGA-CD-5801-01 COSM3385780 c.3209C>T p.A1070V Substitution - Missense 1:223784269-223784269 - C0048T COSM4422661 c.3165A>G p.G1055G Substitution - coding silent 1:223784313-223784313 - TCGA-FS-A4FC-06 COSM3484158 c.381C>T p.I127I Substitution - coding silent 1:223803334-223803334 - TCGA-E9-A5FL-01 COSM3804040 c.1937C>G p.S646* Substitution - Nonsense 1:223796215-223796215 - CSCC-6-T COSM4482836 c.2258C>T p.S753F Substitution - Missense 1:223795894-223795894 - SC_9081 COSM5567111 c.2933G>A p.R978H Substitution - Missense 1:223784158-223784158 - ESO-717 COSM210123 c.994C>T p.R332C Substitution - Missense 1:223800003-223800003 - TCGA-AX-A05Z-01 COSM904468 c.38C>A p.S13Y Substitution - Missense 1:223806895-223806895 - 6T COSM3734178 c.2939A>T p.N980I Substitution - Missense 1:223784152-223784152 - ESO-887 COSM1268376 c.996+10C>T p.? Unknown 1:223802721-223802721 - I2L-P19Ta-Tumor-Organoid COSM5352426 c.1496delA p.N499fs*10 Deletion - Frameshift 1:223798280-223798280 - 2334188 COSM323949 c.1700C>T p.S567L Substitution - Missense 1:223798463-223798463 - TCGA-EE-A2MT-06 COSM3484145 c.2012C>T p.S671F Substitution - Missense 1:223796527-223796527 - SNUH_G10_S1 COSM3997283 c.3027C>T p.N1009N Substitution - coding silent 1:223789144-223789144 - TCGA-BS-A0UF-01 COSM904440 c.2917G>A p.E973K Substitution - Missense 1:223784174-223784174 - TCGA-EE-A2MT-06 COSM3484146 c.1625C>T p.S542F Substitution - Missense 1:223796527-223796527 - 201 COSM3723948 c.1226G>A p.G409D Substitution - Missense 1:223800810-223800810 - S02295 COSM5689024 c.2582A>G p.N861S Substitution - Missense 1:223792416-223792416 - T368 COSM4735463 c.2879G>T p.C960F Substitution - Missense 1:223784212-223784212 - CSCC-49-T COSM4449162 c.1373_1375delCCG p.A458delA Deletion - In frame 1:223798401-223798403 - 587376 COSM1230123 c.2768T>G p.F923C Substitution - Missense 1:223789016-223789016 - CSCC-31-T COSM4568979 c.1041T>G p.P347P Substitution - coding silent 1:223799956-223799956 - T1221 COSM4735468 c.1456A>G p.S486G Substitution - Missense 1:223799928-223799928 - I2L-P11-Tumor-Biopsy COSM5352699 c.1399G>C p.D467H Substitution - Missense 1:223799985-223799985 - CSCC-31-T COSM4568978 c.1428T>G p.P476P Substitution - coding silent 1:223799956-223799956 - I2L-P26-Tumor-Organoid COSM5353363 c.487A>C p.K163Q Substitution - Missense 1:223804336-223804336 - CHC892T COSM4959180 c.825G>A p.E275E Substitution - coding silent 1:223803277-223803277 - 11M COSM323948 c.1313C>T p.S438L Substitution - Missense 1:223798463-223798463 - 201 COSM3723949 c.839G>A p.G280D Substitution - Missense 1:223800810-223800810 - p1_I-2 COSM1738216 c.519A>C p.S173S Substitution - coding silent 1:223802821-223802821 - EOPC-01_tumor COSM3716434 c.1580C>T p.P527L Substitution - Missense 1:223798583-223798583 - 2492710 COSM5730188 c.569_570ins25 p.W190fs*2 Insertion - Frameshift 1:223802770-223802771 - DLD1 COSM1960595 c.1701G>A p.S567S Substitution - coding silent 1:223798462-223798462 - TCGA-AR-A24N-01 COSM1473438 c.2892C>G p.I964M Substitution - Missense 1:223784199-223784199 - TCGA-A8-A08R-01 COSM425413 c.1153C>G p.Q385E Substitution - Missense 1:223802188-223802188 - 430 COSM4433338 c.2632T>G p.S878A Substitution - Missense 1:223789152-223789152 - PT46 COSM5928211 c.1295C>T p.S432F Substitution - Missense 1:223800741-223800741 - YUMOBER COSM5379771 c.1194C>G p.N398K Substitution - Missense 1:223802147-223802147 - TCGA-23-2649-01 COSM1320451 c.521A>G p.E174G Substitution - Missense 1:223802819-223802819 - ASHPC_0001_Pa_P_2 COSM3785158 c.2837A>G p.D946G Substitution - Missense 1:223793328-223793328 - TCGA-39-5021-01 COSM326735 c.40G>T p.V14L Substitution - Missense 1:223821355-223821355 - TCGA-B5-A0JY-01 COSM904443 c.2849G>T p.R950I Substitution - Missense 1:223793316-223793316 - TCGA-AP-A051-01 COSM904453 c.1895C>T p.A632V Substitution - Missense 1:223798268-223798268 - ESO-859 COSM1240491 c.2228A>G p.Y743C Substitution - Missense 1:223795924-223795924 - DLD1 COSM1960596 c.1314G>A p.S438S Substitution - coding silent 1:223798462-223798462 - PD8618a COSM5779170 c.298C>G p.P100A Substitution - Missense 1:223810505-223810505 - MO_1263 COSM5549925 c.1757C>T p.A586V Substitution - Missense 1:223798406-223798406 - TCGA-AA-3672-01 COSM5102131 c.2199C>T p.N733N Substitution - coding silent 1:223796340-223796340 - PD4601a COSM165091 c.1841C>G p.S614C Substitution - Missense 1:223796311-223796311 - TCGA-AP-A059-01 COSM904447 c.2407G>A p.E803K Substitution - Missense 1:223796132-223796132 - ESO-887 COSM1268377 c.609+10C>T p.? Unknown 1:223802721-223802721 - ESCC-123T COSM3934513 c.1378C>T p.R460W Substitution - Missense 1:223798398-223798398 - CHC892T COSM4959180 c.825G>A p.E275E Substitution - coding silent 1:223803277-223803277 - YUCHIME COSM1689900 c.3216G>A p.W1072* Substitution - Nonsense 1:223784262-223784262 - S00501 COSM316088 c.1404A>G p.A468A Substitution - coding silent 1:223799980-223799980 - TCGA-B1-A656-01 COSM4414020 c.2610G>T p.E870D Substitution - Missense 1:223795929-223795929 - 12D COSM1235053 c.269G>A p.R90H Substitution - Missense 1:223814260-223814260 - 8016470 COSM3385780 c.3209C>T p.A1070V Substitution - Missense 1:223784269-223784269 - HCC159T COSM5806771 c.1677G>C p.V559V Substitution - coding silent 1:223798486-223798486 - 8065126 COSM4389828 c.701C>T p.P234L Substitution - Missense 1:223802253-223802253 - TCGA-D7-A4YX-01 COSM4028613 c.1018C>T p.P340S Substitution - Missense 1:223802323-223802323 - CSCC-42-T COSM4457434 c.1044C>T p.S348S Substitution - coding silent 1:223802297-223802297 - I2L-P19Ta-Tumor-Organoid COSM5352425 c.1883delA p.N628fs*10 Deletion - Frameshift 1:223798280-223798280 - TCGA-B8-4148-01 COSM464002 c.423A>G p.A141A Substitution - coding silent 1:223806897-223806897 - TCGA-D3-A51F-06 COSM3484152 c.839-2A>T p.? Unknown 1:223800812-223800812 - I2L-P19Ta-Tumor-Biopsy COSM5352425 c.1883delA p.N628fs*10 Deletion - Frameshift 1:223798280-223798280 - 6P2-2 COSM3734178 c.2939A>T p.N980I Substitution - Missense 1:223784152-223784152 - sysucc-1370T COSM5469963 c.3317C>T p.A1106V Substitution - Missense 1:223784161-223784161 - YUMOBER COSM5379773 c.96_97delAA p.I33fs*15 Deletion - Frameshift 1:223821298-223821299 - TCGA-AP-A056-01 COSM904438 c.2976+1G>A p.? Unknown 1:223784114-223784114 - TCGA-BS-A0UF-01 COSM904439 c.3304G>A p.E1102K Substitution - Missense 1:223784174-223784174 - TCGA-FS-A4F0-06 COSM3484143 c.2056C>T p.P686S Substitution - Missense 1:223796483-223796483 - C0020T COSM4135980 c.2575C>G p.P859A Substitution - Missense 1:223795964-223795964 - 07-P1079 COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - WSU-HN8 COSM4602807 c.931G>A p.V311I Substitution - Missense 1:223802796-223802796 - RK212_C01 COSM3741038 c.2725-5T>C p.? Unknown 1:223793445-223793445 - 8 COSM5732459 c.562C>T p.R188W Substitution - Missense 1:223802778-223802778 - LUAD-B01970 COSM355954 c.2376A>T p.E792D Substitution - Missense 1:223796163-223796163 - TCGA-EE-A3J3-06 COSM3864562 c.1479T>G p.D493E Substitution - Missense 1:223799905-223799905 - TCGA-B5-A0K9-01 COSM904458 c.957T>C p.D319D Substitution - coding silent 1:223800040-223800040 - 430 COSM4433337 c.3019T>G p.S1007A Substitution - Missense 1:223789152-223789152 - 06-P2007 COSM4576945 c.1782C>T p.D594D Substitution - coding silent 1:223796370-223796370 - YUCHIME COSM1689901 c.2829G>A p.W943* Substitution - Nonsense 1:223784262-223784262 - PAPNNX COSM5005133 c.1441G>A p.V481M Substitution - Missense 1:223798335-223798335 - TCGA-FS-A1ZD-06 COSM3484147 c.1673G>A p.R558K Substitution - Missense 1:223798490-223798490 - TCGA-D1-A167-01 COSM904452 c.1519G>A p.A507T Substitution - Missense 1:223798257-223798257 - 587224 COSM1230121 c.2384A>G p.H795R Substitution - Missense 1:223793394-223793394 - TCGA-AZ-6598-01 COSM1339132 c.2569C>T p.Q857* Substitution - Nonsense 1:223792429-223792429 - TCGA-BR-6452-01 COSM4028596 c.2872G>T p.G958* Substitution - Nonsense 1:223784219-223784219 - HCC005T COSM4028605 c.1657G>A p.A553T Substitution - Missense 1:223798506-223798506 - TCGA-MI-A75E-01 COSM4939707 c.2479A>T p.S827C Substitution - Missense 1:223796060-223796060 - 587376 COSM1230126 c.2217G>T p.K739N Substitution - Missense 1:223796322-223796322 - TCGA-FS-A1ZC-06 COSM3484154 c.783G>A p.P261P Substitution - coding silent 1:223802171-223802171 - TCGA-DK-A3X1-01 COSM3789531 c.1928C>G p.S643C Substitution - Missense 1:223796224-223796224 - 116 COSM5010732 c.2654C>T p.P885L Substitution - Missense 1:223795885-223795885 - T3024 COSM4028600 c.2380G>A p.A794T Substitution - Missense 1:223793398-223793398 - TCGA-GC-A3BM-01 COSM3789534 c.1954G>A p.G652S Substitution - Missense 1:223796585-223796585 - PT33 COSM5908036 c.1243C>T p.P415S Substitution - Missense 1:223798533-223798533 - TCGA-D3-A51F-06 COSM3484151 c.1226-2A>T p.? Unknown 1:223800812-223800812 - LS174T COSM1960572 c.2246delC p.P749fs*16 Deletion - Frameshift 1:223795906-223795906 - 20 COSM5015930 c.498_522del25 p.K166fs*12 Deletion - Frameshift 1:223804301-223804325 - C008 COSM5524057 c.2138C>T p.S713F Substitution - Missense 1:223796401-223796401 - 6T COSM3734177 c.3326A>T p.N1109I Substitution - Missense 1:223784152-223784152 - Pat_63_B COSM5845618 c.2320C>T p.P774S Substitution - Missense 1:223796219-223796219 - 587376 COSM1230127 c.1830G>T p.K610N Substitution - Missense 1:223796322-223796322 - TCGA-DK-A3IT-01 COSM1295914 c.2563G>A p.E855K Substitution - Missense 1:223795976-223795976 - TCGA-DK-A3X1-01 COSM3789530 c.2315C>G p.S772C Substitution - Missense 1:223796224-223796224 - C135 COSM1339148 c.275delC p.P92fs*6 Deletion - Frameshift 1:223814254-223814254 - TCGA-AC-A23H-01 COSM3804041 c.1391C>T p.S464L Substitution - Missense 1:223799993-223799993 - HCC098T COSM5806772 c.1290G>C p.V430V Substitution - coding silent 1:223798486-223798486 - TCGA-BQ-7059-01 COSM3984762 c.2142T>C p.N714N Substitution - coding silent 1:223796397-223796397 - PD24194a COSM5784676 c.88G>T p.E30* Substitution - Nonsense 1:223804348-223804348 - LS411 COSM1960566 c.2410delC p.A805fs*4 Deletion - Frameshift 1:223793368-223793368 - TCGA-D5-5538-01 COSM5161361 c.997-2A>T p.? Unknown 1:223802346-223802346 - Pat_26_A COSM3934513 c.1378C>T p.R460W Substitution - Missense 1:223798398-223798398 - HCC098T COSM5806771 c.1677G>C p.V559V Substitution - coding silent 1:223798486-223798486 - LUAD-S01467 COSM399404 c.2289G>A p.S763S Substitution - coding silent 1:223795863-223795863 - TCGA-CW-6093-01 COSM464001 c.1899G>A p.R633R Substitution - coding silent 1:223796253-223796253 - QC2-35-T2 COSM5655062 c.2956G>T p.V986F Substitution - Missense 1:223784135-223784135 - PTC_448 COSM5959287 c.2230A>G p.I744V Substitution - Missense 1:223796309-223796309 - pfg181T COSM4576947 c.207delA p.V70fs*1 Deletion - Frameshift 1:223804229-223804229 - AOCS-092-3-3 COSM3943493 c.3015C>T p.A1005A Substitution - coding silent 1:223780856-223780856 - DN11226 COSM5792990 c.1999G>T p.E667* Substitution - Nonsense 1:223796540-223796540 - Pat_53_B COSM4576946 c.594delA p.V199fs*1 Deletion - Frameshift 1:223804229-223804229 - 07-P1079 COSM4576947 c.207delA p.V70fs*1 Deletion - Frameshift 1:223804229-223804229 - QC2-35-T2 COSM5655061 c.3343G>T p.V1115F Substitution - Missense 1:223784135-223784135 - TCGA-FS-A1ZC-06 COSM3484153 c.1170G>A p.P390P Substitution - coding silent 1:223802171-223802171 - NCI-H1770 COSM13959 c.1044C>T p.S348S Substitution - coding silent 1:223799953-223799953 - Pat_66_A COSM4028608 c.995G>A p.R332H Substitution - Missense 1:223800002-223800002 - ATL043 COSM5705234 c.2625C>A p.Y875* Substitution - Nonsense 1:223795914-223795914 - ESO-859 COSM1240490 c.2615A>G p.Y872C Substitution - Missense 1:223795924-223795924 - LUAD-B01970 COSM355955 c.1989A>T p.E663D Substitution - Missense 1:223796163-223796163 - HCC005T COSM4028606 c.1270G>A p.A424T Substitution - Missense 1:223798506-223798506 - TCGA-AN-A046-01 COSM3804045 c.221G>A p.R74Q Substitution - Missense 1:223814308-223814308 - TCGA-EE-A3AG-06 COSM3484161 c.640G>A p.G214R Substitution - Missense 1:223804183-223804183 - 8 COSM5732458 c.949C>T p.R317W Substitution - Missense 1:223802778-223802778 - TCGA-A8-A07I-01 COSM425416 c.360G>C p.E120D Substitution - Missense 1:223803355-223803355 - TCGA-CH-5766-01 COSM1127130 c.3183C>A p.G1061G Substitution - coding silent 1:223784295-223784295 - ACINAR09 COSM1733914 c.1133C>A p.P378H Substitution - Missense 1:223798643-223798643 - S02375 COSM5696347 c.2860G>A p.E954K Substitution - Missense 1:223793305-223793305 - TCGA-D3-A51J-06 COSM464001 c.1899G>A p.R633R Substitution - coding silent 1:223796253-223796253 - RK245_C01 COSM3785159 c.2450A>G p.D817G Substitution - Missense 1:223793328-223793328 - TCGA-BP-4164-01 COSM1134815 c.2231C>T p.P744L Substitution - Missense 1:223795921-223795921 - DN11226 COSM5792991 c.1612G>T p.E538* Substitution - Nonsense 1:223796540-223796540 - 631076 COSM326735 c.40G>T p.V14L Substitution - Missense 1:223821355-223821355 - 041T COSM1728916 c.1073A>T p.Q358L Substitution - Missense 1:223802268-223802268 - STC252 COSM5053132 c.143C>T p.A48V Substitution - Missense 1:223804293-223804293 - TCGA-CM-6674-01 COSM1339145 c.403G>T p.A135S Substitution - Missense 1:223806917-223806917 - SKCO-1 COSM1960594 c.1472C>T p.T491M Substitution - Missense 1:223798304-223798304 - 041T COSM1728917 c.686A>T p.Q229L Substitution - Missense 1:223802268-223802268 - TCGA-HC-7233-01 COSM3671634 c.1232C>T p.S411L Substitution - Missense 1:223798544-223798544 - PTC_448 COSM5959288 c.1843A>G p.I615V Substitution - Missense 1:223796309-223796309 - Pat_24_A COSM5037454 c.424C>T p.R142C Substitution - Missense 1:223803291-223803291 - Pat_53_B COSM5845621 c.821C>T p.A274V Substitution - Missense 1:223802133-223802133 - TCGA-AP-A059-01 COSM904448 c.2020G>A p.E674K Substitution - Missense 1:223796132-223796132 - TCGA-K4-A3WS-01 COSM3789539 c.25C>T p.Q9* Substitution - Nonsense 1:223806908-223806908 - TCGA-FS-A4F0-06 COSM3484144 c.1669C>T p.P557S Substitution - Missense 1:223796483-223796483 - C13 COSM5037453 c.811C>T p.R271C Substitution - Missense 1:223803291-223803291 - TCGA-D7-A4YX-01 COSM4028614 c.631C>T p.P211S Substitution - Missense 1:223802323-223802323 - 2492709 COSM5730188 c.569_570ins25 p.W190fs*2 Insertion - Frameshift 1:223802770-223802771 - T3024 COSM4028599 c.2767G>A p.A923T Substitution - Missense 1:223793398-223793398 - TCGA-B5-A11E-01 COSM904446 c.2033T>C p.V678A Substitution - Missense 1:223796119-223796119 - TCGA-BC-A216-01 COSM4911401 c.199C>T p.R67* Substitution - Nonsense 1:223814330-223814330 - HCC079T COSM5807913 c.401T>C p.L134P Substitution - Missense 1:223806919-223806919 - MO_1263 COSM5549926 c.1370C>T p.A457V Substitution - Missense 1:223798406-223798406 - ESCC_11 COSM5624137 c.809A>C p.D270A Substitution - Missense 1:223803293-223803293 - CSCC-31-T COSM1960662 c.133G>A p.G45S Substitution - Missense 1:223821262-223821262 - 40M COSM5586832 c.1862C>T p.P621L Substitution - Missense 1:223796290-223796290 - TCGA-D8-A1JA-01 COSM3804044 c.421G>A p.D141N Substitution - Missense 1:223803294-223803294 - TCGA-CG-4305-01 COSM4028605 c.1657G>A p.A553T Substitution - Missense 1:223798506-223798506 - TCGA-B8-4148-01 COSM464003 c.36A>G p.A12A Substitution - coding silent 1:223806897-223806897 - ASHPC_0001_Pa_P_2 COSM3785159 c.2450A>G p.D817G Substitution - Missense 1:223793328-223793328 - ESO-717 COSM1242948 c.1381C>T p.R461C Substitution - Missense 1:223800003-223800003 - LUAD-S01467 COSM399403 c.2676G>A p.S892S Substitution - coding silent 1:223795863-223795863 - 06-P2007 COSM4576944 c.2169C>T p.D723D Substitution - coding silent 1:223796370-223796370 - Pat_06_A COSM4576947 c.207delA p.V70fs*1 Deletion - Frameshift 1:223804229-223804229 - TCGA-EJ-7782-01 COSM3782436 c.2905G>A p.E969K Substitution - Missense 1:223784186-223784186 - TCGA-23-2649-01 COSM1320450 c.908A>G p.E303G Substitution - Missense 1:223802819-223802819 - PD24194a COSM5784675 c.475G>T p.E159* Substitution - Nonsense 1:223804348-223804348 - T2932 COSM4735464 c.2744G>A p.R915H Substitution - Missense 1:223793421-223793421 - p1_I-1 COSM1738216 c.519A>C p.S173S Substitution - coding silent 1:223802821-223802821 - TCGA-CC-A7IJ-01 COSM4924514 c.1942C>G p.P648A Substitution - Missense 1:223796210-223796210 - 3N25-VS-3T25 COSM4979895 c.2537C>T p.A846V Substitution - Missense 1:223792461-223792461 - YUKAT COSM5379767 c.2540G>A p.S847N Substitution - Missense 1:223795999-223795999 - I2L-P11-Tumor-Biopsy COSM5352700 c.1012G>C p.D338H Substitution - Missense 1:223799985-223799985 - TCGA-IR-A3LA-01 COSM4844907 c.3252G>T p.M1084I Substitution - Missense 1:223784226-223784226 - TCGA-HU-A4GU-01 COSM4028611 c.1150A>G p.I384V Substitution - Missense 1:223802191-223802191 - TCGA-DD-A4NN-01 COSM4935247 c.3388C>G p.Q1130E Substitution - Missense 1:223780870-223780870 - TCGA-H4-A2HQ-01 COSM1295913 c.2620C>T p.H874Y Substitution - Missense 1:223789164-223789164 - p1_I-1 COSM1738215 c.906A>C p.S302S Substitution - coding silent 1:223802821-223802821 - TCGA-CM-6674-01 COSM1339146 c.16G>T p.A6S Substitution - Missense 1:223806917-223806917 - S00501 COSM316087 c.1017A>G p.A339A Substitution - coding silent 1:223799980-223799980 - 07-058 COSM3735956 c.298C>A p.Q100K Substitution - Missense 1:223803417-223803417 - Gp2D COSM4627034 c.121T>C p.C41R Substitution - Missense 1:223821274-223821274 - TCGA-B5-A0JY-01 COSM904444 c.2462G>T p.R821I Substitution - Missense 1:223793316-223793316 - HCC113T COSM5808413 c.2451G>A p.E817E Substitution - coding silent 1:223796088-223796088 - TCGA-DA-A1HV-06 COSM3484142 c.1712C>T p.P571L Substitution - Missense 1:223796440-223796440 - CSCC-6-T COSM4482835 c.2645C>T p.S882F Substitution - Missense 1:223795894-223795894 - TCGA-HU-A4GU-01 COSM4028612 c.763A>G p.I255V Substitution - Missense 1:223802191-223802191 - TCGA-AY-6197-01 COSM1339140 c.649G>A p.A217T Substitution - Missense 1:223802305-223802305 - WSU-HN8 COSM4602808 c.544G>A p.V182I Substitution - Missense 1:223802796-223802796 - TCGA-DK-A3X1-01 COSM3789529 c.1937C>A p.S646* Substitution - Nonsense 1:223796215-223796215 - CN-AML-CR-45-Dx COSM5424347 c.2582A>C p.N861T Substitution - Missense 1:223792416-223792416 - TCGA-EE-A29N-06 COSM3484146 c.1625C>T p.S542F Substitution - Missense 1:223796527-223796527 - ACINAR26 COSM1733912 c.2802G>A p.M934I Substitution - Missense 1:223784289-223784289 - ESCC_11 COSM5624138 c.422A>C p.D141A Substitution - Missense 1:223803293-223803293 - S00838 COSM5661354 c.960G>A p.K320K Substitution - coding silent 1:223802767-223802767 - HCT8 COSM1960595 c.1701G>A p.S567S Substitution - coding silent 1:223798462-223798462 - 40M COSM5586831 c.2249C>T p.P750L Substitution - Missense 1:223796290-223796290 - TCGA-D1-A17Q-01 COSM904470 c.200G>A p.R67Q Substitution - Missense 1:223814329-223814329 - TCGA-D8-A1JA-01 COSM3804043 c.808G>A p.D270N Substitution - Missense 1:223803294-223803294 - LS180 COSM1960571 c.2633delC p.P878fs*16 Deletion - Frameshift 1:223795906-223795906 - sysucc-1370T COSM5469964 c.2930C>T p.A977V Substitution - Missense 1:223784161-223784161 - 1848_T COSM3977083 c.1545G>T p.G515G Substitution - coding silent 1:223798231-223798231 - TCGA-D1-A176-01 COSM904455 c.1402G>A p.A468T Substitution - Missense 1:223799982-223799982 - TCGA-A6-5665-01 COSM5089352 c.289+6_289+7ins32 p.? Unknown 1:223814233-223814234 - TCGA-DA-A1HV-06 COSM3484141 c.2099C>T p.P700L Substitution - Missense 1:223796440-223796440 - 587376 COSM1230125 c.2123A>C p.D708A Substitution - Missense 1:223796029-223796029 - I2L-P26-Tumor-Organoid COSM5353364 c.100A>C p.K34Q Substitution - Missense 1:223804336-223804336 - 8068579 COSM3385783 c.354T>G p.Y118* Substitution - Nonsense 1:223810449-223810449 - T3724 COSM4735470 c.738G>A p.R246R Substitution - coding silent 1:223803364-223803364 - CHC892T COSM4959181 c.438G>A p.E146E Substitution - coding silent 1:223803277-223803277 - 585205 COSM323946 c.1727C>G p.P576R Substitution - Missense 1:223796425-223796425 - TCGA-AA-A01P-01 COSM5121916 c.259C>T p.R87C Substitution - Missense 1:223814270-223814270 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.523956;Hs.523968 1q41 602143 2478484|CGAP|BC058918|A/G|non-coding||4256|Confirmed; 1520022|dbSNP|BC058918|A/G|non-coding||4256|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D493E c.1479T>G 1 223987607 CM A G Missense p.C1014R c.3040T>C 1 223976833 BRCA C A Missense p.E748D c.2244G>T 1 223983997 CM C A Missense p.S1030I c.3089G>T 1 223976784 COREAD C A Missense p.V14L c.40G>T 1 224009057 LUSC C A Missense p.V14L c.40G>T 1 224009057 SCLC C A Nonsense p.E190* c.568G>T 1 223991957 CM CC TT Missense p.R492Q c.1475_1476delinsAA 1 223987610 CM C G Missense p.D956H c.2866G>C 1 223980221 OV C G Missense p.E249D c.747G>C 1 223991057 BRCA C G Synonymous p.L314L c.942G>C 1 223990487 HNSC C T IntronicSNV . c.997-114G>A 1 223990160 RCCC C T Missense p.A553T c.1657G>A 1 223986208 STAD C T Missense p.A726T c.2176G>A 1 223984065 UCEC C T Missense p.C34Y c.101G>A 1 224008996 UCEC C T Missense p.D336N c.1006G>A 1 223990037 HNSC C T Missense p.E855K c.2563G>A 1 223983678 BLCA C T Missense p.G214R c.640G>A 1 223991885 CM C T Missense p.R558K c.1673G>A 1 223986192 CM C T Synonymous p.K321K c.963G>A 1 223990466 LUAD C T Synonymous p.P390P c.1170G>A 1 223989873 CM C T Synonymous p.P557P c.1671G>A 1 223986194 BLCA C T Synonymous p.R762R c.2286G>A 1 223983955 RCCC C T Synonymous p.V928V c.2784G>A 1 223981083 NSCLC G A IntronicSNV . c.996+10C>T 1 223990423 ESCA G A Missense p.H1003Y c.3007C>T 1 223976866 BLCA G A Missense p.L72F c.214C>T 1 224002017 CM G A Missense p.P700L c.2099C>T 1 223984142 CM G A Missense p.P816S c.2446C>T 1 223983795 CM G A Missense p.P873L c.2618C>T 1 223983623 RCCC G A Missense p.P881S c.2641C>T 1 223983600 CM G A Missense p.R60C c.178C>T 1 224002053 COREAD G A Missense p.R896C c.2686C>T 1 223983555 LUAD G A Missense p.S360F c.1079C>T 1 223989964 CM G A Missense p.S540L c.1619C>T 1 223986246 PRAD G A Missense p.S567L c.1700C>T 1 223986165 SCLC G A Missense p.S671F c.2012C>T 1 223984229 CM G A Synonymous p.F85F c.255C>T 1 224001976 CM G A Synonymous p.L234L c.702C>T 1 223991102 CM G A Synonymous p.N398N c.1194C>T 1 223989849 LUSC G A Synonymous p.P593P c.1779C>T 1 223986086 OV G A Synonymous p.T599T c.1797C>T 1 223986068 CM G C IntronicSNV . c.997-113C>G 1 223990159 RCCC G C Missense p.I1093M c.3279C>G 1 223971901 BRCA G C Missense p.P705R c.2114C>G 1 223984127 SCLC G C Missense p.Q385E c.1153C>G 1 223989890 BRCA G C Missense p.S732C c.2195C>G 1 223984046 HNSC G C Missense p.S743C c.2228C>G 1 223984013 BRCA G C Synonymous p.L703L c.2109C>G 1 223984132 HNSC GG AA Missense p.P44L c.131_132delinsTT 1 224008965 CM G T Missense p.Q570K c.1708C>A 1 223986157 RCCC T A Missense p.K459N c.1377A>T 1 223987709 HNSC T A Synonymous p.P796P c.2388A>T 1 223983853 RCCC T C Missense p.Y872C c.2615A>G 1 223983626 ESCA T C Synonymous p.A141A c.423A>G 1 223994599 RCCC T C Synonymous p.A468A c.1404A>G 1 223987682 SCLC T G Missense p.T29P c.85A>C 1 224009012 CM