Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 114948141 114948141 + Nonsense_Mutation SNP C C A TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr1:114948141C>A c.2659G>T c.(2659-2661)Gaa>Taa p.E887* BLCA 1 114940585 114940585 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr1:114940585C>G c.3148G>C c.(3148-3150)Gac>Cac p.D1050H BLCA 1 114940612 114940612 + Splice_Site SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr1:114940612T>C c.3121A>G c.(3121-3123)Atg>Gtg p.M1041V BLCA 1 114967341 114967341 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr1:114967341C>G c.1732G>C c.(1732-1734)Ggc>Cgc p.G578R BLCA 1 114969902 114969902 + Silent SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr1:114969902C>T c.1317G>A c.(1315-1317)ttG>ttA p.L439L BLCA 1 114970427 114970427 + Silent SNP G G A TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr1:114970427G>A c.1245C>T c.(1243-1245)ttC>ttT p.F415F BLCA 1 114970513 114970513 + Missense_Mutation SNP C C G TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr1:114970513C>G c.1159G>C c.(1159-1161)Gtt>Ctt p.V387L BLCA 1 114976330 114976330 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:114976330G>C c.949C>G c.(949-951)Caa>Gaa p.Q317E BLCA 1 115006170 115006170 + Silent SNP A A C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:115006170A>C c.654T>G c.(652-654)acT>acG p.T218T BLCA 1 115053194 115053195 + Frame_Shift_Ins INS - - C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr1:115053194_115053195insC c.503_504insG c.(502-504)ggcfs p.G168fs BRCA 1 114940464 114940464 + Nonsense_Mutation SNP G G A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr1:114940464G>A c.3190C>T c.(3190-3192)Cag>Tag p.Q1064* BRCA 1 114944049 114944049 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:114944049C>A c.2929G>T c.(2929-2931)Gaa>Taa p.E977* BRCA 1 114944055 114944055 + Missense_Mutation SNP A A G TCGA-AR-A255-01A-11D-A167-09 TCGA-AR-A255-10A-01D-A167-09 g.chr1:114944055A>G c.2923T>C c.(2923-2925)Tgc>Cgc p.C975R BRCA 1 114969881 114969881 + Silent SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:114969881C>T c.1338G>A c.(1336-1338)cgG>cgA p.R446R BRCA 1 115006967 115006967 + Missense_Mutation SNP C C A TCGA-GM-A3NW-01A-21D-A228-09 TCGA-GM-A3NW-10A-01D-A22A-09 g.chr1:115006967C>A c.570G>T c.(568-570)caG>caT p.Q190H BRCA 1 115006984 115006984 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 g.chr1:115006984G>A c.553C>T c.(553-555)Cgc>Tgc p.R185C CESC 1 114940291 114940291 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr1:114940291C>G c.3363G>C c.(3361-3363)gaG>gaC p.E1121D CESC 1 114968154 114968154 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 g.chr1:114968154G>T c.1612C>A c.(1612-1614)Caa>Aaa p.Q538K CHOL 1 114952824 114952824 + Missense_Mutation SNP G G T TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr1:114952824G>T c.2176C>A c.(2176-2178)Ctt>Att p.L726I COAD 1 114940401 114940401 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:114940401T>C c.3253A>G c.(3253-3255)Acc>Gcc p.T1085A COAD 1 114942218 114942218 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:114942218T>C c.2981A>G c.(2980-2982)tAt>tGt p.Y994C COAD 1 114942232 114942232 + Splice_Site SNP C C A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr1:114942232C>A c.e18-1 COAD 1 114945410 114945410 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:114945410G>A c.2864C>T c.(2863-2865)gCg>gTg p.A955V COAD 1 114948114 114948114 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:114948114C>T c.2686G>A c.(2686-2688)Gga>Aga p.G896R COAD 1 114948147 114948147 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:114948147G>A c.2653C>T c.(2653-2655)Cca>Tca p.P885S COAD 1 114948207 114948207 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:114948207G>A c.2593C>T c.(2593-2595)Cga>Tga p.R865* COAD 1 114948367 114948367 + Missense_Mutation SNP C C A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:114948367C>A c.2433G>T c.(2431-2433)gaG>gaT p.E811D COAD 1 114948368 114948368 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:114948368T>C c.2432A>G c.(2431-2433)gAg>gGg p.E811G COAD 1 114967334 114967334 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:114967334A>G c.1739T>C c.(1738-1740)aTg>aCg p.M580T COAD 1 114967335 114967335 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:114967335T>C c.1738A>G c.(1738-1740)Atg>Gtg p.M580V COAD 1 114970467 114970467 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:114970467A>G c.1205T>C c.(1204-1206)aTc>aCc p.I402T COAD 1 114976239 114976239 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:114976239C>A c.1040G>T c.(1039-1041)aGg>aTg p.R347M COAD 1 114976244 114976244 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:114976244C>T c.1035G>A c.(1033-1035)caG>caA p.Q345Q COAD 1 114976295 114976295 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:114976295C>T c.984G>A c.(982-984)gcG>gcA p.A328A COAD 1 114976301 114976301 + Silent SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:114976301T>C c.978A>G c.(976-978)ctA>ctG p.L326L COAD 1 115005834 115005834 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:115005834C>T c.815G>A c.(814-816)cGc>cAc p.R272H COAD 1 115006077 115006077 + Missense_Mutation SNP T T A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:115006077T>A c.747A>T c.(745-747)aaA>aaT p.K249N COADREAD 1 114940401 114940401 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:114940401T>C c.3253A>G c.(3253-3255)Acc>Gcc p.T1085A COADREAD 1 114940417 114940417 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:114940417C>A c.3237G>T c.(3235-3237)gaG>gaT p.E1079D COADREAD 1 114942218 114942218 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:114942218T>C c.2981A>G c.(2980-2982)tAt>tGt p.Y994C COADREAD 1 114942232 114942232 + Splice_Site SNP C C A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr1:114942232C>A c.e18-1 COADREAD 1 114944078 114944078 + Missense_Mutation SNP T T C TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:114944078T>C c.2900A>G c.(2899-2901)gAa>gGa p.E967G COADREAD 1 114945410 114945410 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:114945410G>A c.2864C>T c.(2863-2865)gCg>gTg p.A955V COADREAD 1 114948114 114948114 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:114948114C>T c.2686G>A c.(2686-2688)Gga>Aga p.G896R COADREAD 1 114948146 114948146 + Missense_Mutation SNP G G T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:114948146G>T c.2654C>A c.(2653-2655)cCa>cAa p.P885Q COADREAD 1 114948147 114948147 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:114948147G>A c.2653C>T c.(2653-2655)Cca>Tca p.P885S COADREAD 1 114948207 114948207 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:114948207G>A c.2593C>T c.(2593-2595)Cga>Tga p.R865* COADREAD 1 114948367 114948367 + Missense_Mutation SNP C C A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:114948367C>A c.2433G>T c.(2431-2433)gaG>gaT p.E811D COADREAD 1 114948368 114948368 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:114948368T>C c.2432A>G c.(2431-2433)gAg>gGg p.E811G COADREAD 1 114967334 114967334 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:114967334A>G c.1739T>C c.(1738-1740)aTg>aCg p.M580T COADREAD 1 114967335 114967335 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:114967335T>C c.1738A>G c.(1738-1740)Atg>Gtg p.M580V COADREAD 1 114968214 114968214 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:114968214G>T c.1552C>A c.(1552-1554)Cac>Aac p.H518N COADREAD 1 114970467 114970467 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:114970467A>G c.1205T>C c.(1204-1206)aTc>aCc p.I402T COADREAD 1 114976239 114976239 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:114976239C>A c.1040G>T c.(1039-1041)aGg>aTg p.R347M COADREAD 1 114976244 114976244 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:114976244C>T c.1035G>A c.(1033-1035)caG>caA p.Q345Q COADREAD 1 114976275 114976277 + In_Frame_Del DEL TTC TTC - TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr1:114976275_114976277delTTC c.1002_1004delGAA c.(1000-1005)aagaat>aat p.K334del COADREAD 1 114976295 114976295 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:114976295C>T c.984G>A c.(982-984)gcG>gcA p.A328A COADREAD 1 114976301 114976301 + Silent SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:114976301T>C c.978A>G c.(976-978)ctA>ctG p.L326L COADREAD 1 115005834 115005834 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:115005834C>T c.815G>A c.(814-816)cGc>cAc p.R272H COADREAD 1 115005840 115005840 + Missense_Mutation SNP C C G TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr1:115005840C>G c.809G>C c.(808-810)gGt>gCt p.G270A COADREAD 1 115006077 115006077 + Missense_Mutation SNP T T A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:115006077T>A c.747A>T c.(745-747)aaA>aaT p.K249N ESCA 1 114967322 114967322 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr1:114967322G>T c.1751C>A c.(1750-1752)gCt>gAt p.A584D ESCA 1 114969885 114969885 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr1:114969885G>T c.1334C>A c.(1333-1335)gCa>gAa p.A445E ESCA 1 115007001 115007001 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr1:115007001A>C c.536T>G c.(535-537)aTa>aGa p.I179R GBM 1 114969900 114969900 + Missense_Mutation SNP C C T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr1:114969900C>T c.1319G>A c.(1318-1320)cGt>cAt p.R440H GBMLGG 1 114964058 114964058 + Splice_Site SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr1:114964058C>A c.2061G>T c.(2059-2061)caG>caT p.Q687H GBMLGG 1 114968295 114968295 + Missense_Mutation SNP C C T TCGA-HT-7880-01A-11D-2395-08 TCGA-HT-7880-10A-01D-2396-08 g.chr1:114968295C>T c.1471G>A c.(1471-1473)Gta>Ata p.V491I GBMLGG 1 114969900 114969900 + Missense_Mutation SNP C C T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr1:114969900C>T c.1319G>A c.(1318-1320)cGt>cAt p.R440H HNSC 1 114948369 114948369 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr1:114948369C>G c.2431G>C c.(2431-2433)Gag>Cag p.E811Q HNSC 1 114964164 114964164 + Missense_Mutation SNP T T A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr1:114964164T>A c.1955A>T c.(1954-1956)aAt>aTt p.N652I HNSC 1 114967317 114967317 + Missense_Mutation SNP G G C TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr1:114967317G>C c.1756C>G c.(1756-1758)Caa>Gaa p.Q586E HNSC 1 114968304 114968304 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr1:114968304G>A c.1462C>T c.(1462-1464)Cct>Tct p.P488S KIPAN 1 114942184 114942184 + Silent SNP G G A TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr1:114942184G>A c.3015C>T c.(3013-3015)acC>acT p.T1005T KIPAN 1 114948195 114948195 + Missense_Mutation SNP G G A TCGA-A4-7828-01A-11D-2136-08 TCGA-A4-7828-10A-01D-2136-08 g.chr1:114948195G>A c.2605C>T c.(2605-2607)Cac>Tac p.H869Y KIPAN 1 114948266 114948267 + Frame_Shift_Ins INS - - T TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr1:114948266_114948267insT c.2533_2534insA c.(2533-2535)atgfs p.M845fs KIPAN 1 115006036 115006036 + Nonsense_Mutation SNP G G T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr1:115006036G>T c.788C>A c.(787-789)tCa>tAa p.S263* KIRC 1 114948266 114948267 + Frame_Shift_Ins INS - - T TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr1:114948266_114948267insT c.2533_2534insA c.(2533-2535)atgfs p.M845fs KIRP 1 114942184 114942184 + Silent SNP G G A TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr1:114942184G>A c.3015C>T c.(3013-3015)acC>acT p.T1005T KIRP 1 114948195 114948195 + Missense_Mutation SNP G G A TCGA-A4-7828-01A-11D-2136-08 TCGA-A4-7828-10A-01D-2136-08 g.chr1:114948195G>A c.2605C>T c.(2605-2607)Cac>Tac p.H869Y KIRP 1 115006036 115006036 + Nonsense_Mutation SNP G G T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr1:115006036G>T c.788C>A c.(787-789)tCa>tAa p.S263* LGG 1 114964058 114964058 + Splice_Site SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr1:114964058C>A c.2061G>T c.(2059-2061)caG>caT p.Q687H LGG 1 114968295 114968295 + Missense_Mutation SNP C C T TCGA-HT-7880-01A-11D-2395-08 TCGA-HT-7880-10A-01D-2396-08 g.chr1:114968295C>T c.1471G>A c.(1471-1473)Gta>Ata p.V491I LIHC 1 114942160 114942160 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr1:114942160delT c.3039delA c.(3037-3039)aaafs p.K1013fs LIHC 1 114973529 114973530 + Frame_Shift_Ins INS - - CAAC TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr1:114973529_114973530insCAAC c.1045_1046insGTTG c.(1045-1047)aaafs p.K349fs LUAD 1 114940316 114940316 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr1:114940316C>T c.3338G>A c.(3337-3339)cGc>cAc p.R1113H LUAD 1 114940327 114940327 + Silent SNP A A G TCGA-62-A46U-01A-11D-A24D-08 TCGA-62-A46U-10A-01D-A24F-08 g.chr1:114940327A>G c.3327T>C c.(3325-3327)ttT>ttC p.F1109F LUAD 1 114940381 114940381 + Missense_Mutation SNP C C G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:114940381C>G c.3273G>C c.(3271-3273)gaG>gaC p.E1091D LUAD 1 114940607 114940607 + Missense_Mutation SNP C C T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:114940607C>T c.3126G>A c.(3124-3126)atG>atA p.M1042I LUAD 1 114948095 114948095 + Missense_Mutation SNP C C G TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr1:114948095C>G c.2705G>C c.(2704-2706)tGc>tCc p.C902S LUAD 1 114948266 114948266 + Missense_Mutation SNP A A G TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr1:114948266A>G c.2534T>C c.(2533-2535)aTg>aCg p.M845T LUAD 1 114952806 114952806 + Splice_Site SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr1:114952806C>A c.2194G>T c.(2194-2196)Ggt>Tgt p.G732C LUAD 1 114952807 114952807 + Splice_Site SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr1:114952807T>A c.2193A>T c.(2191-2193)tcA>tcT p.S731S LUAD 1 114967296 114967296 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr1:114967296C>T c.1777G>A c.(1777-1779)Gct>Act p.A593T LUAD 1 114969832 114969832 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr1:114969832G>A c.1387C>T c.(1387-1389)Ccc>Tcc p.P463S LUAD 1 114969875 114969875 + Silent SNP A A G TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr1:114969875A>G c.1344T>C c.(1342-1344)gaT>gaC p.D448D LUAD 1 114970493 114970493 + Missense_Mutation SNP C C T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:114970493C>T c.1179G>A c.(1177-1179)atG>atA p.M393I LUAD 1 114976307 114976307 + Missense_Mutation SNP C C G TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr1:114976307C>G c.972G>C c.(970-972)gaG>gaC p.E324D LUSC 1 114949569 114949569 + Silent SNP A A C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:114949569A>C c.2412T>G c.(2410-2412)gcT>gcG p.A804A LUSC 1 114969855 114969855 + Missense_Mutation SNP C C G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr1:114969855C>G c.1364G>C c.(1363-1365)gGa>gCa p.G455A LUSC 1 114970445 114970445 + Silent SNP C C T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr1:114970445C>T c.1227G>A c.(1225-1227)gtG>gtA p.V409V LUSC 1 114970454 114970454 + Silent SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr1:114970454G>A c.1218C>T c.(1216-1218)tcC>tcT p.S406S OV 1 114948336 114948336 + Missense_Mutation SNP G G C TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 g.chr1:114948336G>C c.2464C>G c.(2464-2466)Ctg>Gtg p.L822V OV 1 114967266 114967266 + Missense_Mutation SNP G G A TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 g.chr1:114967266G>A c.1807C>T c.(1807-1809)Ccc>Tcc p.P603S PAAD 1 114948188 114948188 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:114948188G>A c.2612C>T c.(2611-2613)tCg>tTg p.S871L PAAD 1 114968220 114968220 + Missense_Mutation SNP G G T TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chr1:114968220G>T c.1546C>A c.(1546-1548)Ctc>Atc p.L516I PAAD 1 114968227 114968227 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:114968227C>T c.1539G>A c.(1537-1539)caG>caA p.Q513Q PRAD 1 114942114 114942114 + Missense_Mutation SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr1:114942114G>A c.3085C>T c.(3085-3087)Cgt>Tgt p.R1029C PRAD 1 114945490 114945490 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:114945490G>A c.2784C>T c.(2782-2784)tgC>tgT p.C928C PRAD 1 114948128 114948128 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:114948128G>A c.2672C>T c.(2671-2673)gCt>gTt p.A891V PRAD 1 114968071 114968071 + Splice_Site SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 g.chr1:114968071C>T c.1695G>A c.(1693-1695)caG>caA p.Q565Q PRAD 1 114968110 114968110 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:114968110C>T c.1656G>A c.(1654-1656)caG>caA p.Q552Q PRAD 1 115005788 115005788 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 g.chr1:115005788G>A c.861C>T c.(859-861)ttC>ttT p.F287F PRAD 1 115006111 115006111 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 g.chr1:115006111C>T c.713G>A c.(712-714)tGt>tAt p.C238Y READ 1 114940417 114940417 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:114940417C>A c.3237G>T c.(3235-3237)gaG>gaT p.E1079D READ 1 114944078 114944078 + Missense_Mutation SNP T T C TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:114944078T>C c.2900A>G c.(2899-2901)gAa>gGa p.E967G READ 1 114948146 114948146 + Missense_Mutation SNP G G T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:114948146G>T c.2654C>A c.(2653-2655)cCa>cAa p.P885Q READ 1 114968214 114968214 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:114968214G>T c.1552C>A c.(1552-1554)Cac>Aac p.H518N READ 1 114976275 114976277 + In_Frame_Del DEL TTC TTC - TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr1:114976275_114976277delTTC c.1002_1004delGAA c.(1000-1005)aagaat>aat p.K334del READ 1 115005840 115005840 + Missense_Mutation SNP C C G TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr1:115005840C>G c.809G>C c.(808-810)gGt>gCt p.G270A SKCM 1 114940389 114940389 + Silent SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr1:114940389A>G c.3265T>C c.(3265-3267)Ttg>Ctg p.L1089L SKCM 1 114942115 114942115 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr1:114942115G>A c.3084C>T c.(3082-3084)gtC>gtT p.V1028V SKCM 1 114952902 114952902 + Silent SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr1:114952902G>A c.2098C>T c.(2098-2100)Cta>Tta p.L700L SKCM 1 114964156 114964156 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:114964156G>C c.1963C>G c.(1963-1965)Cga>Gga p.R655G SKCM 1 114970453 114970453 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:114970453G>C c.1219C>G c.(1219-1221)Cgg>Ggg p.R407G SKCM 1 114973461 114973461 + Nonsense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:114973461C>A c.1114G>T c.(1114-1116)Gaa>Taa p.E372* SKCM 1 115006056 115006056 + Silent SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr1:115006056G>A c.768C>T c.(766-768)atC>atT p.I256I

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 114940612 114940612 single base substitution T C intron_variant BLCA-US 1 114940612 114940612 single base substitution T C missense_variant M1041V 3121A>G BLCA-US 1 114940612 114940612 single base substitution T C missense_variant M673V 2017A>G BLCA-US 1 114940612 114940612 single base substitution T C missense_variant M801V 2401A>G BLCA-US 1 114940612 114940612 single base substitution T C splice_region_variant BLCA-US 1 114940612 114940612 single base substitution T C upstream_gene_variant BLCA-US 1 114976330 114976330 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 1 114976330 114976330 single base substitution G C missense_variant Q317E 949C>G BLCA-US 1 114976330 114976330 single base substitution G C missense_variant Q53E 157C>G BRCA-EU 1 114930519 114930519 single base substitution C T downstream_gene_variant BRCA-EU 1 114931369 114931369 single base substitution T C downstream_gene_variant BRCA-EU 1 114931986 114931986 single base substitution T G downstream_gene_variant BRCA-EU 1 114933281 114933281 single base substitution T A downstream_gene_variant BRCA-EU 1 114933573 114933573 single base substitution G A downstream_gene_variant BRCA-EU 1 114933802 114933802 single base substitution G C downstream_gene_variant BRCA-EU 1 114935353 114935353 single base substitution T C downstream_gene_variant BRCA-EU 1 114936261 114936261 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 114936261 114936261 single base substitution C G downstream_gene_variant BRCA-EU 1 114936373 114936373 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 114936373 114936373 single base substitution C T downstream_gene_variant BRCA-EU 1 114937260 114937260 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 114937260 114937260 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 114937679 114937679 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 114937679 114937679 single base substitution G C downstream_gene_variant BRCA-EU 1 114938054 114938054 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 114938054 114938054 single base substitution C G downstream_gene_variant BRCA-EU 1 114938380 114938380 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 114938380 114938380 single base substitution T A downstream_gene_variant BRCA-EU 1 114939922 114939922 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 114939922 114939922 single base substitution A C downstream_gene_variant BRCA-EU 1 114939922 114939922 single base substitution A C intron_variant BRCA-EU 1 114940040 114940040 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 114940040 114940040 single base substitution C T downstream_gene_variant BRCA-EU 1 114940040 114940040 single base substitution C T intron_variant BRCA-EU 1 114940132 114940132 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 114940132 114940132 single base substitution A T downstream_gene_variant BRCA-EU 1 114940132 114940132 single base substitution A T intron_variant BRCA-EU 1 114940317 114940317 single base substitution G A exon_variant BRCA-EU 1 114940317 114940317 single base substitution G A intron_variant BRCA-EU 1 114940317 114940317 single base substitution G A missense_variant R1096C 3286C>T BRCA-EU 1 114940317 114940317 single base substitution G A missense_variant R1113C 3337C>T BRCA-EU 1 114940317 114940317 single base substitution G A missense_variant R745C 2233C>T BRCA-EU 1 114940317 114940317 single base substitution G A missense_variant R873C 2617C>T BRCA-EU 1 114941712 114941712 single base substitution A G intron_variant BRCA-EU 1 114941712 114941712 single base substitution A G upstream_gene_variant BRCA-EU 1 114944114 114944114 single base substitution T C downstream_gene_variant BRCA-EU 1 114944114 114944114 single base substitution T C intron_variant BRCA-EU 1 114944114 114944114 single base substitution T C upstream_gene_variant BRCA-EU 1 114945311 114945311 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 114945311 114945311 deletion of <=200bp A - intron_variant BRCA-EU 1 114945311 114945311 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 114946004 114946004 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 114946004 114946004 deletion of <=200bp T - intron_variant BRCA-EU 1 114946004 114946004 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 114946298 114946298 single base substitution C T downstream_gene_variant BRCA-EU 1 114946298 114946298 single base substitution C T intron_variant BRCA-EU 1 114946298 114946298 single base substitution C T upstream_gene_variant BRCA-EU 1 114946983 114946983 single base substitution G C exon_variant BRCA-EU 1 114946983 114946983 single base substitution G C intron_variant BRCA-EU 1 114946983 114946983 single base substitution G C upstream_gene_variant BRCA-EU 1 114947643 114947643 single base substitution G A exon_variant BRCA-EU 1 114947643 114947643 single base substitution G A intron_variant BRCA-EU 1 114949040 114949040 single base substitution C A intron_variant BRCA-EU 1 114949065 114949065 single base substitution T C intron_variant BRCA-EU 1 114949637 114949637 single base substitution C A stop_gained E414* 1240G>T BRCA-EU 1 114949637 114949637 single base substitution C A stop_gained E542* 1624G>T BRCA-EU 1 114949637 114949637 single base substitution C A stop_gained E782* 2344G>T BRCA-EU 1 114949637 114949637 single base substitution C A upstream_gene_variant BRCA-EU 1 114949716 114949716 single base substitution C A synonymous_variant G387G 1161G>T BRCA-EU 1 114949716 114949716 single base substitution C A synonymous_variant G515G 1545G>T BRCA-EU 1 114949716 114949716 single base substitution C A synonymous_variant G755G 2265G>T BRCA-EU 1 114949716 114949716 single base substitution C A upstream_gene_variant BRCA-EU 1 114950052 114950052 single base substitution C T intron_variant BRCA-EU 1 114950052 114950052 single base substitution C T upstream_gene_variant BRCA-EU 1 114951627 114951627 single base substitution C T intron_variant BRCA-EU 1 114951627 114951627 single base substitution C T upstream_gene_variant BRCA-EU 1 114952477 114952477 single base substitution G A intron_variant BRCA-EU 1 114952477 114952477 single base substitution G A upstream_gene_variant BRCA-EU 1 114952717 114952718 deletion of <=200bp TC - intron_variant BRCA-EU 1 114952717 114952718 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 1 114957303 114957303 single base substitution A T intron_variant BRCA-EU 1 114958431 114958431 single base substitution G A intron_variant BRCA-EU 1 114958477 114958477 single base substitution G C intron_variant BRCA-EU 1 114959772 114959772 single base substitution G A intron_variant BRCA-EU 1 114962222 114962222 single base substitution A T intron_variant BRCA-EU 1 114962449 114962449 single base substitution A C intron_variant BRCA-EU 1 114963806 114963806 single base substitution C G intron_variant BRCA-EU 1 114965731 114965731 single base substitution G C intron_variant BRCA-EU 1 114966612 114966612 single base substitution C G intron_variant BRCA-EU 1 114967548 114967548 single base substitution G A intron_variant BRCA-EU 1 114967620 114967628 deletion of <=200bp GTGTTTAAA - intron_variant BRCA-EU 1 114969571 114969571 single base substitution C T intron_variant BRCA-EU 1 114970183 114970183 single base substitution G A intron_variant BRCA-EU 1 114970556 114970556 deletion of <=200bp A - intron_variant BRCA-EU 1 114971199 114971199 single base substitution T A intron_variant BRCA-EU 1 114971631 114971631 single base substitution T A intron_variant BRCA-EU 1 114971753 114971753 insertion of <=200bp - A intron_variant BRCA-EU 1 114971871 114971871 single base substitution G A intron_variant BRCA-EU 1 114971969 114971969 single base substitution C A intron_variant BRCA-EU 1 114972238 114972238 single base substitution G C intron_variant BRCA-EU 1 114972461 114972461 single base substitution C G intron_variant BRCA-EU 1 114973769 114973769 single base substitution G C intron_variant BRCA-EU 1 114974339 114974339 single base substitution C T intron_variant BRCA-EU 1 114974762 114974762 single base substitution C A intron_variant BRCA-EU 1 114975130 114975130 single base substitution C T intron_variant BRCA-EU 1 114975301 114975301 single base substitution G A intron_variant BRCA-EU 1 114976635 114976635 single base substitution T G intron_variant BRCA-EU 1 114977150 114977150 single base substitution C T intron_variant BRCA-EU 1 114977438 114977438 single base substitution C G intron_variant BRCA-EU 1 114977966 114977966 single base substitution G T intron_variant BRCA-EU 1 114978359 114978359 deletion of <=200bp T - intron_variant BRCA-EU 1 114979343 114979343 single base substitution T C intron_variant BRCA-EU 1 114979752 114979752 single base substitution T C intron_variant BRCA-EU 1 114979762 114979762 single base substitution C T intron_variant BRCA-EU 1 114979986 114979986 single base substitution G A intron_variant BRCA-EU 1 114980629 114980629 deletion of <=200bp G - intron_variant BRCA-EU 1 114980736 114980736 single base substitution A C intron_variant BRCA-EU 1 114980847 114980847 single base substitution T A intron_variant BRCA-EU 1 114980866 114980866 single base substitution G C intron_variant BRCA-EU 1 114981562 114981562 single base substitution G T intron_variant BRCA-EU 1 114981829 114981829 single base substitution C A intron_variant BRCA-EU 1 114983535 114983535 single base substitution C T intron_variant BRCA-EU 1 114988478 114988478 deletion of <=200bp T - intron_variant BRCA-EU 1 114988843 114988843 single base substitution G C intron_variant BRCA-EU 1 114988843 114988843 single base substitution G T intron_variant BRCA-EU 1 114989709 114989709 single base substitution T C intron_variant BRCA-EU 1 114989818 114989818 single base substitution C A intron_variant BRCA-EU 1 114989939 114989940 deletion of <=200bp TC - intron_variant BRCA-EU 1 114995014 114995014 single base substitution G A intron_variant BRCA-EU 1 114995225 114995225 single base substitution G C intron_variant BRCA-EU 1 114995962 114995962 single base substitution G T intron_variant BRCA-EU 1 114996009 114996009 single base substitution A T intron_variant BRCA-EU 1 114997700 114997701 deletion of <=200bp GT - intron_variant BRCA-EU 1 114998422 114998422 single base substitution G T intron_variant BRCA-EU 1 114998447 114998447 single base substitution G C intron_variant BRCA-EU 1 114998957 114998957 single base substitution G C intron_variant BRCA-EU 1 115000531 115000531 single base substitution G A intron_variant BRCA-EU 1 115003639 115003639 single base substitution G A intron_variant BRCA-EU 1 115005064 115005064 insertion of <=200bp - AC intron_variant BRCA-EU 1 115006739 115006739 single base substitution G C intron_variant BRCA-EU 1 115006739 115006739 single base substitution G C upstream_gene_variant BRCA-EU 1 115007692 115007692 single base substitution G A intron_variant BRCA-EU 1 115007692 115007692 single base substitution G A upstream_gene_variant BRCA-EU 1 115010425 115010425 single base substitution C A intron_variant BRCA-EU 1 115010425 115010425 single base substitution C A upstream_gene_variant BRCA-EU 1 115010570 115010570 single base substitution T C intron_variant BRCA-EU 1 115010570 115010570 single base substitution T C upstream_gene_variant BRCA-EU 1 115011124 115011124 deletion of <=200bp A - intron_variant BRCA-EU 1 115011861 115011861 single base substitution G C intron_variant BRCA-EU 1 115014243 115014243 single base substitution G A intron_variant BRCA-EU 1 115014245 115014245 insertion of <=200bp - A intron_variant BRCA-EU 1 115018747 115018747 single base substitution T A intron_variant BRCA-EU 1 115019176 115019176 single base substitution G T intron_variant BRCA-EU 1 115022454 115022454 single base substitution C T intron_variant BRCA-EU 1 115023117 115023118 deletion of <=200bp AG - intron_variant BRCA-EU 1 115023157 115023157 single base substitution A G intron_variant BRCA-EU 1 115026938 115026938 deletion of <=200bp T - intron_variant BRCA-EU 1 115027000 115027000 single base substitution C G intron_variant BRCA-EU 1 115027210 115027210 single base substitution C T intron_variant BRCA-EU 1 115027716 115027716 single base substitution T A intron_variant BRCA-EU 1 115028540 115028540 single base substitution C T intron_variant BRCA-EU 1 115028959 115028959 deletion of <=200bp A - intron_variant BRCA-EU 1 115029977 115029977 single base substitution A C intron_variant BRCA-EU 1 115030347 115030347 single base substitution G T intron_variant BRCA-EU 1 115030608 115030608 single base substitution T C intron_variant BRCA-EU 1 115030966 115030966 single base substitution C G intron_variant BRCA-EU 1 115031336 115031336 single base substitution G A intron_variant BRCA-EU 1 115032525 115032525 single base substitution G C intron_variant BRCA-EU 1 115032722 115032722 single base substitution A G intron_variant BRCA-EU 1 115033169 115033169 single base substitution G C intron_variant BRCA-EU 1 115034456 115034456 single base substitution G A intron_variant BRCA-EU 1 115035267 115035267 single base substitution T C intron_variant BRCA-EU 1 115036003 115036003 single base substitution T G intron_variant BRCA-EU 1 115036804 115036804 single base substitution G C intron_variant BRCA-EU 1 115039397 115039397 single base substitution C T intron_variant BRCA-EU 1 115040615 115040615 single base substitution T A intron_variant BRCA-EU 1 115040616 115040616 single base substitution G A intron_variant BRCA-EU 1 115041495 115041495 single base substitution A G intron_variant BRCA-EU 1 115041646 115041646 single base substitution A C intron_variant BRCA-EU 1 115041938 115041938 single base substitution G T intron_variant BRCA-EU 1 115042278 115042278 single base substitution T C intron_variant BRCA-EU 1 115042482 115042482 single base substitution C A intron_variant BRCA-EU 1 115043514 115043514 single base substitution T C intron_variant BRCA-EU 1 115045483 115045483 insertion of <=200bp - A intron_variant BRCA-EU 1 115046212 115046212 single base substitution G C intron_variant BRCA-EU 1 115048617 115048617 single base substitution A G intron_variant BRCA-EU 1 115049259 115049259 single base substitution T C intron_variant BRCA-EU 1 115049675 115049675 single base substitution G C intron_variant BRCA-EU 1 115049994 115049996 deletion of <=200bp AAG - intron_variant BRCA-EU 1 115050093 115050093 deletion of <=200bp A - intron_variant BRCA-EU 1 115050433 115050433 single base substitution G A intron_variant BRCA-EU 1 115055371 115055371 single base substitution C T upstream_gene_variant BRCA-EU 1 115058335 115058335 deletion of <=200bp T - upstream_gene_variant BRCA-FR 1 114938054 114938054 single base substitution C G 3_prime_UTR_variant BRCA-FR 1 114938054 114938054 single base substitution C G downstream_gene_variant BRCA-FR 1 114965021 114965021 single base substitution A C intron_variant BRCA-FR 1 114966612 114966612 single base substitution C G intron_variant BRCA-FR 1 114971969 114971969 single base substitution C A intron_variant BRCA-FR 1 114981339 114981339 single base substitution T C intron_variant BRCA-FR 1 114998447 114998447 single base substitution G C intron_variant BRCA-FR 1 115010570 115010570 single base substitution T C intron_variant BRCA-FR 1 115010570 115010570 single base substitution T C upstream_gene_variant BRCA-FR 1 115019176 115019176 single base substitution G T intron_variant BRCA-FR 1 115028540 115028540 single base substitution C T intron_variant BRCA-FR 1 115029666 115029666 single base substitution G A intron_variant BRCA-FR 1 115040645 115040645 single base substitution G A intron_variant BRCA-FR 1 115049490 115049490 single base substitution T A intron_variant BRCA-FR 1 115055371 115055371 single base substitution C T upstream_gene_variant BRCA-KR 1 114940419 114940419 single base substitution C T exon_variant BRCA-KR 1 114940419 114940419 single base substitution C T missense_variant E1062K 3184G>A BRCA-KR 1 114940419 114940419 single base substitution C T missense_variant E1079K 3235G>A BRCA-KR 1 114940419 114940419 single base substitution C T missense_variant E711K 2131G>A BRCA-KR 1 114940419 114940419 single base substitution C T missense_variant E839K 2515G>A BRCA-UK 1 114969890 114969890 single base substitution C G missense_variant L179F 537G>C BRCA-UK 1 114969890 114969890 single base substitution C G missense_variant L443F 1329G>C BRCA-UK 1 114969890 114969890 single base substitution C G missense_variant L51F 153G>C BRCA-UK 1 115011861 115011861 single base substitution G C intron_variant BRCA-US 1 114940464 114940464 single base substitution G A exon_variant BRCA-US 1 114940464 114940464 single base substitution G A stop_gained Q1047* 3139C>T BRCA-US 1 114940464 114940464 single base substitution G A stop_gained Q1064* 3190C>T BRCA-US 1 114940464 114940464 single base substitution G A stop_gained Q696* 2086C>T BRCA-US 1 114940464 114940464 single base substitution G A stop_gained Q824* 2470C>T BRCA-US 1 114940464 114940464 single base substitution G A upstream_gene_variant BRCA-US 1 114944049 114944049 single base substitution C A downstream_gene_variant BRCA-US 1 114944049 114944049 single base substitution C A stop_gained E609* 1825G>T BRCA-US 1 114944049 114944049 single base substitution C A stop_gained E737* 2209G>T BRCA-US 1 114944049 114944049 single base substitution C A stop_gained E977* 2929G>T BRCA-US 1 114944049 114944049 single base substitution C A upstream_gene_variant BRCA-US 1 114944055 114944055 single base substitution A G downstream_gene_variant BRCA-US 1 114944055 114944055 single base substitution A G missense_variant C607R 1819T>C BRCA-US 1 114944055 114944055 single base substitution A G missense_variant C735R 2203T>C BRCA-US 1 114944055 114944055 single base substitution A G missense_variant C975R 2923T>C BRCA-US 1 114944055 114944055 single base substitution A G upstream_gene_variant BRCA-US 1 114969881 114969881 single base substitution C T synonymous_variant R182R 546G>A BRCA-US 1 114969881 114969881 single base substitution C T synonymous_variant R446R 1338G>A BRCA-US 1 114969881 114969881 single base substitution C T synonymous_variant R54R 162G>A BRCA-US 1 115006967 115006967 single base substitution C A missense_variant Q190H 570G>T BRCA-US 1 115006967 115006967 single base substitution C A upstream_gene_variant BTCA-JP 1 114940211 114940211 single base substitution G T 3_prime_UTR_variant BTCA-JP 1 114940211 114940211 single base substitution G T downstream_gene_variant BTCA-JP 1 114940211 114940211 single base substitution G T intron_variant BTCA-JP 1 114943931 114943931 single base substitution C T downstream_gene_variant BTCA-JP 1 114943931 114943931 single base substitution C T intron_variant BTCA-JP 1 114943931 114943931 single base substitution C T upstream_gene_variant BTCA-JP 1 114964220 114964220 single base substitution T C synonymous_variant V241V 723A>G BTCA-JP 1 114964220 114964220 single base substitution T C synonymous_variant V369V 1107A>G BTCA-JP 1 114964220 114964220 single base substitution T C synonymous_variant V633V 1899A>G CESC-US 1 114940291 114940291 single base substitution C G exon_variant CESC-US 1 114940291 114940291 single base substitution C G intron_variant CESC-US 1 114940291 114940291 single base substitution C G missense_variant E1104D 3312G>C CESC-US 1 114940291 114940291 single base substitution C G missense_variant E1121D 3363G>C CESC-US 1 114940291 114940291 single base substitution C G missense_variant E753D 2259G>C CESC-US 1 114940291 114940291 single base substitution C G missense_variant E881D 2643G>C CESC-US 1 114947873 114947873 single base substitution T G exon_variant CESC-US 1 114947873 114947873 single base substitution T G intron_variant CESC-US 1 114963040 114963040 single base substitution C G intron_variant CESC-US 1 114963040 114963040 single base substitution C G missense_variant E307Q 919G>C CESC-US 1 114963040 114963040 single base substitution C G missense_variant E435Q 1303G>C CESC-US 1 114968154 114968154 single base substitution G T missense_variant Q146K 436C>A CESC-US 1 114968154 114968154 single base substitution G T missense_variant Q274K 820C>A CESC-US 1 114968154 114968154 single base substitution G T missense_variant Q538K 1612C>A CLLE-ES 1 114936180 114936180 single base substitution G A 3_prime_UTR_variant CLLE-ES 1 114936180 114936180 single base substitution G A downstream_gene_variant CLLE-ES 1 114986656 114986656 single base substitution A G intron_variant CLLE-ES 1 115039599 115039599 single base substitution G A intron_variant COAD-US 1 114942218 114942218 single base substitution T C downstream_gene_variant COAD-US 1 114942218 114942218 single base substitution T C exon_variant COAD-US 1 114942218 114942218 single base substitution T C missense_variant Y626C 1877A>G COAD-US 1 114942218 114942218 single base substitution T C missense_variant Y754C 2261A>G COAD-US 1 114942218 114942218 single base substitution T C missense_variant Y994C 2981A>G COAD-US 1 114942218 114942218 single base substitution T C upstream_gene_variant COAD-US 1 114944082 114944082 single base substitution A G downstream_gene_variant COAD-US 1 114944082 114944082 single base substitution A G missense_variant C598R 1792T>C COAD-US 1 114944082 114944082 single base substitution A G missense_variant C726R 2176T>C COAD-US 1 114944082 114944082 single base substitution A G missense_variant C966R 2896T>C COAD-US 1 114944082 114944082 single base substitution A G upstream_gene_variant COAD-US 1 114945410 114945410 single base substitution G A downstream_gene_variant COAD-US 1 114945410 114945410 single base substitution G A missense_variant A587V 1760C>T COAD-US 1 114945410 114945410 single base substitution G A missense_variant A715V 2144C>T COAD-US 1 114945410 114945410 single base substitution G A missense_variant A955V 2864C>T COAD-US 1 114945410 114945410 single base substitution G A upstream_gene_variant COAD-US 1 114973429 114973429 single base substitution T C 5_prime_UTR_variant COAD-US 1 114973429 114973429 single base substitution T C synonymous_variant Q118Q 354A>G COAD-US 1 114973429 114973429 single base substitution T C synonymous_variant Q382Q 1146A>G COAD-US 1 114976244 114976244 single base substitution C T 5_prime_UTR_variant COAD-US 1 114976244 114976244 single base substitution C T synonymous_variant Q345Q 1035G>A COAD-US 1 114976244 114976244 single base substitution C T synonymous_variant Q81Q 243G>A COAD-US 1 114976250 114976250 single base substitution C T 5_prime_UTR_variant COAD-US 1 114976250 114976250 single base substitution C T synonymous_variant Q343Q 1029G>A COAD-US 1 114976250 114976250 single base substitution C T synonymous_variant Q79Q 237G>A COAD-US 1 114976295 114976295 single base substitution C T 5_prime_UTR_variant COAD-US 1 114976295 114976295 single base substitution C T synonymous_variant A328A 984G>A COAD-US 1 114976295 114976295 single base substitution C T synonymous_variant A64A 192G>A COAD-US 1 115005834 115005834 single base substitution C T 5_prime_UTR_variant COAD-US 1 115005834 115005834 single base substitution C T missense_variant R272H 815G>A COAD-US 1 115005834 115005834 single base substitution C T missense_variant R8H 23G>A COCA-CN 1 114945345 114945345 single base substitution T G downstream_gene_variant COCA-CN 1 114945345 114945345 single base substitution T G intron_variant COCA-CN 1 114945345 114945345 single base substitution T G upstream_gene_variant COCA-CN 1 114948207 114948207 single base substitution G A exon_variant COCA-CN 1 114948207 114948207 single base substitution G A stop_gained R497* 1489C>T COCA-CN 1 114948207 114948207 single base substitution G A stop_gained R625* 1873C>T COCA-CN 1 114948207 114948207 single base substitution G A stop_gained R865* 2593C>T COCA-CN 1 114948293 114948293 single base substitution T C exon_variant COCA-CN 1 114948293 114948293 single base substitution T C missense_variant N468S 1403A>G COCA-CN 1 114948293 114948293 single base substitution T C missense_variant N596S 1787A>G COCA-CN 1 114948293 114948293 single base substitution T C missense_variant N836S 2507A>G COCA-CN 1 114948411 114948411 single base substitution G T intron_variant COCA-CN 1 114963235 114963235 single base substitution A C intron_variant COCA-CN 1 114968216 114968216 single base substitution T C missense_variant Q125R 374A>G COCA-CN 1 114968216 114968216 single base substitution T C missense_variant Q253R 758A>G COCA-CN 1 114968216 114968216 single base substitution T C missense_variant Q517R 1550A>G COCA-CN 1 114968222 114968222 single base substitution C T missense_variant R123Q 368G>A COCA-CN 1 114968222 114968222 single base substitution C T missense_variant R251Q 752G>A COCA-CN 1 114968222 114968222 single base substitution C T missense_variant R515Q 1544G>A COCA-CN 1 114968370 114968370 single base substitution T G intron_variant COCA-CN 1 114969717 114969717 single base substitution A C intron_variant COCA-CN 1 114970459 114970459 single base substitution G T missense_variant L13I 37C>A COCA-CN 1 114970459 114970459 single base substitution G T missense_variant L141I 421C>A COCA-CN 1 114970459 114970459 single base substitution G T missense_variant L405I 1213C>A COCA-CN 1 114976436 114976436 single base substitution A G intron_variant COCA-CN 1 115005816 115005816 single base substitution A G 5_prime_UTR_variant COCA-CN 1 115005816 115005816 single base substitution A G missense_variant V14A 41T>C COCA-CN 1 115005816 115005816 single base substitution A G missense_variant V278A 833T>C ESAD-UK 1 114932917 114932917 single base substitution T C downstream_gene_variant ESAD-UK 1 114934418 114934418 single base substitution G C downstream_gene_variant ESAD-UK 1 114936037 114936037 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 114936037 114936037 single base substitution T A downstream_gene_variant ESAD-UK 1 114937951 114937951 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 114937951 114937951 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 114938241 114938241 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 114938241 114938241 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 114938337 114938337 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 114938337 114938337 single base substitution G T downstream_gene_variant ESAD-UK 1 114939285 114939285 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 114939285 114939285 single base substitution C A downstream_gene_variant ESAD-UK 1 114939285 114939285 single base substitution C A intron_variant ESAD-UK 1 114943187 114943187 single base substitution C G downstream_gene_variant ESAD-UK 1 114943187 114943187 single base substitution C G intron_variant ESAD-UK 1 114943187 114943187 single base substitution C G upstream_gene_variant ESAD-UK 1 114945328 114945328 single base substitution T G downstream_gene_variant ESAD-UK 1 114945328 114945328 single base substitution T G intron_variant ESAD-UK 1 114945328 114945328 single base substitution T G upstream_gene_variant ESAD-UK 1 114945393 114945393 single base substitution C T downstream_gene_variant ESAD-UK 1 114945393 114945393 single base substitution C T missense_variant V593M 1777G>A ESAD-UK 1 114945393 114945393 single base substitution C T missense_variant V721M 2161G>A ESAD-UK 1 114945393 114945393 single base substitution C T missense_variant V961M 2881G>A ESAD-UK 1 114945393 114945393 single base substitution C T upstream_gene_variant ESAD-UK 1 114946489 114946489 single base substitution G T downstream_gene_variant ESAD-UK 1 114946489 114946489 single base substitution G T intron_variant ESAD-UK 1 114946489 114946489 single base substitution G T upstream_gene_variant ESAD-UK 1 114947937 114947937 single base substitution G A exon_variant ESAD-UK 1 114947937 114947937 single base substitution G A intron_variant ESAD-UK 1 114949045 114949045 single base substitution A G intron_variant ESAD-UK 1 114949856 114949856 single base substitution T A intron_variant ESAD-UK 1 114949856 114949856 single base substitution T A upstream_gene_variant ESAD-UK 1 114951350 114951350 single base substitution G C missense_variant S368C 1103C>G ESAD-UK 1 114951350 114951350 single base substitution G C missense_variant S496C 1487C>G ESAD-UK 1 114951350 114951350 single base substitution G C missense_variant S736C 2207C>G ESAD-UK 1 114951350 114951350 single base substitution G C upstream_gene_variant ESAD-UK 1 114952482 114952482 single base substitution C A intron_variant ESAD-UK 1 114952482 114952482 single base substitution C A upstream_gene_variant ESAD-UK 1 114954792 114954792 single base substitution A T intron_variant ESAD-UK 1 114955566 114955566 single base substitution T C intron_variant ESAD-UK 1 114955566 114955566 single base substitution T G intron_variant ESAD-UK 1 114955775 114955775 single base substitution A T intron_variant ESAD-UK 1 114955797 114955797 single base substitution A G intron_variant ESAD-UK 1 114957168 114957168 single base substitution C T intron_variant ESAD-UK 1 114958254 114958254 single base substitution G T intron_variant ESAD-UK 1 114959123 114959123 single base substitution C G intron_variant ESAD-UK 1 114963510 114963510 single base substitution C A intron_variant ESAD-UK 1 114964522 114964522 single base substitution A G intron_variant ESAD-UK 1 114964712 114964712 single base substitution G T intron_variant ESAD-UK 1 114965569 114965569 single base substitution G A intron_variant ESAD-UK 1 114966164 114966164 single base substitution G A intron_variant ESAD-UK 1 114967030 114967030 single base substitution T A intron_variant ESAD-UK 1 114969880 114969880 single base substitution A T missense_variant C183S 547T>A ESAD-UK 1 114969880 114969880 single base substitution A T missense_variant C447S 1339T>A ESAD-UK 1 114969880 114969880 single base substitution A T missense_variant C55S 163T>A ESAD-UK 1 114973542 114973542 single base substitution A C splice_region_variant ESAD-UK 1 114974739 114974739 single base substitution T A intron_variant ESAD-UK 1 114975475 114975475 single base substitution C T intron_variant ESAD-UK 1 114979384 114979384 single base substitution G T intron_variant ESAD-UK 1 114979464 114979464 single base substitution A T intron_variant ESAD-UK 1 114981368 114981368 deletion of <=200bp A - intron_variant ESAD-UK 1 114983383 114983383 single base substitution A G intron_variant ESAD-UK 1 114983455 114983455 single base substitution T C intron_variant ESAD-UK 1 114986594 114986594 single base substitution T A intron_variant ESAD-UK 1 114989448 114989448 single base substitution G A intron_variant ESAD-UK 1 114991786 114991786 deletion of <=200bp A - intron_variant ESAD-UK 1 114994054 114994054 single base substitution G C intron_variant ESAD-UK 1 114996538 114996538 single base substitution G A intron_variant ESAD-UK 1 114996941 114996941 single base substitution T A intron_variant ESAD-UK 1 114997733 114997733 single base substitution C G intron_variant ESAD-UK 1 114999146 114999146 single base substitution T C intron_variant ESAD-UK 1 115000446 115000446 single base substitution G A intron_variant ESAD-UK 1 115005062 115005062 single base substitution A G intron_variant ESAD-UK 1 115005099 115005099 single base substitution C G intron_variant ESAD-UK 1 115007187 115007187 single base substitution A C intron_variant ESAD-UK 1 115007187 115007187 single base substitution A C upstream_gene_variant ESAD-UK 1 115007421 115007421 single base substitution G C intron_variant ESAD-UK 1 115007421 115007421 single base substitution G C upstream_gene_variant ESAD-UK 1 115008153 115008153 single base substitution G A intron_variant ESAD-UK 1 115008153 115008153 single base substitution G A upstream_gene_variant ESAD-UK 1 115008507 115008507 single base substitution A T intron_variant ESAD-UK 1 115008507 115008507 single base substitution A T upstream_gene_variant ESAD-UK 1 115009068 115009068 single base substitution C G intron_variant ESAD-UK 1 115009068 115009068 single base substitution C G upstream_gene_variant ESAD-UK 1 115010388 115010388 single base substitution G C intron_variant ESAD-UK 1 115010388 115010388 single base substitution G C upstream_gene_variant ESAD-UK 1 115016884 115016884 single base substitution G C intron_variant ESAD-UK 1 115017176 115017176 single base substitution A T intron_variant ESAD-UK 1 115018682 115018682 single base substitution T G intron_variant ESAD-UK 1 115019467 115019467 single base substitution T A intron_variant ESAD-UK 1 115019782 115019782 insertion of <=200bp - AAAAT intron_variant ESAD-UK 1 115023318 115023318 single base substitution A T intron_variant ESAD-UK 1 115023554 115023554 single base substitution A G intron_variant ESAD-UK 1 115026168 115026168 single base substitution C A intron_variant ESAD-UK 1 115026247 115026247 single base substitution C A intron_variant ESAD-UK 1 115026749 115026749 single base substitution T G intron_variant ESAD-UK 1 115027090 115027090 single base substitution T C intron_variant ESAD-UK 1 115029103 115029103 single base substitution C T intron_variant ESAD-UK 1 115029581 115029581 single base substitution C T intron_variant ESAD-UK 1 115029600 115029600 single base substitution T G intron_variant ESAD-UK 1 115031575 115031575 single base substitution G A intron_variant ESAD-UK 1 115032158 115032158 single base substitution G A intron_variant ESAD-UK 1 115032886 115032886 single base substitution A G intron_variant ESAD-UK 1 115033200 115033200 single base substitution T G intron_variant ESAD-UK 1 115035308 115035308 single base substitution T C intron_variant ESAD-UK 1 115037313 115037313 single base substitution G T intron_variant ESAD-UK 1 115039127 115039127 single base substitution T G intron_variant ESAD-UK 1 115047047 115047047 single base substitution C G intron_variant ESAD-UK 1 115048122 115048122 insertion of <=200bp - A intron_variant ESAD-UK 1 115048347 115048347 single base substitution G A intron_variant ESAD-UK 1 115048503 115048503 single base substitution A C intron_variant ESAD-UK 1 115049572 115049574 deletion of <=200bp GAA - intron_variant ESAD-UK 1 115051874 115051874 single base substitution G A intron_variant ESAD-UK 1 115052082 115052082 single base substitution G A intron_variant ESAD-UK 1 115053943 115053943 single base substitution G T upstream_gene_variant ESAD-UK 1 115055006 115055006 single base substitution A C upstream_gene_variant ESAD-UK 1 115055087 115055087 single base substitution A G upstream_gene_variant ESAD-UK 1 115058591 115058591 single base substitution C T upstream_gene_variant ESAD-UK 1 115058609 115058609 single base substitution C T upstream_gene_variant ESCA-CN 1 114940229 114940229 single base substitution G T 3_prime_UTR_variant ESCA-CN 1 114940229 114940229 single base substitution G T downstream_gene_variant ESCA-CN 1 114940229 114940229 single base substitution G T intron_variant ESCA-CN 1 114967287 114967287 single base substitution C A missense_variant A204S 610G>T ESCA-CN 1 114967287 114967287 single base substitution C A missense_variant A332S 994G>T ESCA-CN 1 114967287 114967287 single base substitution C A missense_variant A596S 1786G>T GBM-US 1 114969900 114969900 single base substitution C T missense_variant R176H 527G>A GBM-US 1 114969900 114969900 single base substitution C T missense_variant R440H 1319G>A GBM-US 1 114969900 114969900 single base substitution C T missense_variant R48H 143G>A KIRC-US 1 114948266 114948266 insertion of <=200bp - T exon_variant KIRC-US 1 114948266 114948266 insertion of <=200bp - T frameshift_variant M477I? KIRC-US 1 114948266 114948266 insertion of <=200bp - T frameshift_variant M605I? KIRC-US 1 114948266 114948266 insertion of <=200bp - T frameshift_variant M845I? KIRP-US 1 114948195 114948195 single base substitution G A exon_variant KIRP-US 1 114948195 114948195 single base substitution G A missense_variant H501Y 1501C>T KIRP-US 1 114948195 114948195 single base substitution G A missense_variant H629Y 1885C>T KIRP-US 1 114948195 114948195 single base substitution G A missense_variant H869Y 2605C>T KIRP-US 1 114964232 114964232 single base substitution G C synonymous_variant P237P 711C>G KIRP-US 1 114964232 114964232 single base substitution G C synonymous_variant P365P 1095C>G KIRP-US 1 114964232 114964232 single base substitution G C synonymous_variant P629P 1887C>G LAML-CN 1 114940357 114940357 single base substitution A T exon_variant LAML-CN 1 114940357 114940357 single base substitution A T synonymous_variant G1082G 3246T>A LAML-CN 1 114940357 114940357 single base substitution A T synonymous_variant G1099G 3297T>A LAML-CN 1 114940357 114940357 single base substitution A T synonymous_variant G731G 2193T>A LAML-CN 1 114940357 114940357 single base substitution A T synonymous_variant G859G 2577T>A LAML-KR 1 114940228 114940228 single base substitution C T 3_prime_UTR_variant LAML-KR 1 114940228 114940228 single base substitution C T downstream_gene_variant LAML-KR 1 114940228 114940228 single base substitution C T intron_variant LGG-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T158 LGG-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T286 LGG-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T550 LICA-CN 1 114945410 114945410 single base substitution G A downstream_gene_variant LICA-CN 1 114945410 114945410 single base substitution G A missense_variant A587V 1760C>T LICA-CN 1 114945410 114945410 single base substitution G A missense_variant A715V 2144C>T LICA-CN 1 114945410 114945410 single base substitution G A missense_variant A955V 2864C>T LICA-CN 1 114945410 114945410 single base substitution G A upstream_gene_variant LICA-FR 1 114936872 114936872 single base substitution T C 3_prime_UTR_variant LICA-FR 1 114936872 114936872 single base substitution T C downstream_gene_variant LICA-FR 1 114942152 114942152 single base substitution T A downstream_gene_variant LICA-FR 1 114942152 114942152 single base substitution T A exon_variant LICA-FR 1 114942152 114942152 single base substitution T A missense_variant Q1016L 3047A>T LICA-FR 1 114942152 114942152 single base substitution T A missense_variant Q648L 1943A>T LICA-FR 1 114942152 114942152 single base substitution T A missense_variant Q776L 2327A>T LICA-FR 1 114942152 114942152 single base substitution T A upstream_gene_variant LICA-FR 1 114946349 114946349 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 114946349 114946349 insertion of <=200bp - T intron_variant LICA-FR 1 114946349 114946349 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 114956820 114956820 single base substitution T C intron_variant LICA-FR 1 114969802 114969802 single base substitution A C missense_variant L209V 625T>G LICA-FR 1 114969802 114969802 single base substitution A C missense_variant L473V 1417T>G LICA-FR 1 114969802 114969802 single base substitution A C missense_variant L81V 241T>G LICA-FR 1 114972080 114972080 single base substitution T A intron_variant LICA-FR 1 115006390 115006390 insertion of <=200bp - T intron_variant LICA-FR 1 115006390 115006390 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 115009134 115009134 single base substitution G C intron_variant LICA-FR 1 115009134 115009134 single base substitution G C upstream_gene_variant LICA-FR 1 115015879 115015879 deletion of <=200bp A - intron_variant LICA-FR 1 115019253 115019253 single base substitution T A intron_variant LICA-FR 1 115022428 115022428 single base substitution A G intron_variant LICA-FR 1 115026703 115026703 single base substitution A G intron_variant LICA-FR 1 115027465 115027465 single base substitution T A intron_variant LICA-FR 1 115042940 115042940 single base substitution C A intron_variant LICA-FR 1 115058776 115058776 single base substitution A G upstream_gene_variant LINC-JP 1 114936980 114936980 single base substitution T C 3_prime_UTR_variant LINC-JP 1 114936980 114936980 single base substitution T C downstream_gene_variant LINC-JP 1 114944051 114944051 single base substitution T C downstream_gene_variant LINC-JP 1 114944051 114944051 single base substitution T C missense_variant H608R 1823A>G LINC-JP 1 114944051 114944051 single base substitution T C missense_variant H736R 2207A>G LINC-JP 1 114944051 114944051 single base substitution T C missense_variant H976R 2927A>G LINC-JP 1 114944051 114944051 single base substitution T C upstream_gene_variant LINC-JP 1 114948022 114948022 single base substitution T C exon_variant LINC-JP 1 114948022 114948022 single base substitution T C intron_variant LINC-JP 1 114952761 114952761 insertion of <=200bp - T intron_variant LINC-JP 1 114952761 114952761 insertion of <=200bp - T upstream_gene_variant LINC-JP 1 114966134 114966134 single base substitution T C intron_variant LINC-JP 1 114968640 114968640 single base substitution C A intron_variant LINC-JP 1 114978243 114978243 single base substitution T A intron_variant LINC-JP 1 114982564 114982564 single base substitution G A intron_variant LINC-JP 1 114983173 114983173 single base substitution A T intron_variant LINC-JP 1 115002016 115002016 single base substitution A T intron_variant LINC-JP 1 115003964 115003964 single base substitution G A intron_variant LINC-JP 1 115005734 115005734 single base substitution T C 5_prime_UTR_variant LINC-JP 1 115005734 115005734 single base substitution T C synonymous_variant K305K 915A>G LINC-JP 1 115005734 115005734 single base substitution T C synonymous_variant K41K 123A>G LINC-JP 1 115006294 115006294 single base substitution G A intron_variant LINC-JP 1 115006294 115006294 single base substitution G A upstream_gene_variant LINC-JP 1 115019048 115019048 single base substitution T C intron_variant LINC-JP 1 115022029 115022029 single base substitution G T intron_variant LINC-JP 1 115044449 115044449 single base substitution C A intron_variant LINC-JP 1 115053431 115053431 single base substitution A G synonymous_variant V89V 267T>C LIRI-JP 1 114931380 114931380 single base substitution C T downstream_gene_variant LIRI-JP 1 114933286 114933286 single base substitution C A downstream_gene_variant LIRI-JP 1 114933670 114933670 single base substitution T C downstream_gene_variant LIRI-JP 1 114933873 114933873 single base substitution A C downstream_gene_variant LIRI-JP 1 114937557 114937557 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 114937557 114937557 single base substitution T C downstream_gene_variant LIRI-JP 1 114939132 114939132 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 114939132 114939132 single base substitution T C downstream_gene_variant LIRI-JP 1 114939132 114939132 single base substitution T C intron_variant LIRI-JP 1 114939275 114939275 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 114939275 114939275 single base substitution A C downstream_gene_variant LIRI-JP 1 114939275 114939275 single base substitution A C intron_variant LIRI-JP 1 114939284 114939284 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 114939284 114939284 single base substitution T G downstream_gene_variant LIRI-JP 1 114939284 114939284 single base substitution T G intron_variant LIRI-JP 1 114940777 114940777 single base substitution T G intron_variant LIRI-JP 1 114940777 114940777 single base substitution T G upstream_gene_variant LIRI-JP 1 114942211 114942211 single base substitution A G downstream_gene_variant LIRI-JP 1 114942211 114942211 single base substitution A G exon_variant LIRI-JP 1 114942211 114942211 single base substitution A G synonymous_variant I628I 1884T>C LIRI-JP 1 114942211 114942211 single base substitution A G synonymous_variant I756I 2268T>C LIRI-JP 1 114942211 114942211 single base substitution A G synonymous_variant I996I 2988T>C LIRI-JP 1 114942211 114942211 single base substitution A G upstream_gene_variant LIRI-JP 1 114942246 114942246 single base substitution T A downstream_gene_variant LIRI-JP 1 114942246 114942246 single base substitution T A intron_variant LIRI-JP 1 114942246 114942246 single base substitution T A upstream_gene_variant LIRI-JP 1 114943170 114943170 single base substitution A G downstream_gene_variant LIRI-JP 1 114943170 114943170 single base substitution A G intron_variant LIRI-JP 1 114943170 114943170 single base substitution A G upstream_gene_variant LIRI-JP 1 114943881 114943881 single base substitution C G downstream_gene_variant LIRI-JP 1 114943881 114943881 single base substitution C G intron_variant LIRI-JP 1 114943881 114943881 single base substitution C G upstream_gene_variant LIRI-JP 1 114948111 114948111 single base substitution C A exon_variant LIRI-JP 1 114948111 114948111 single base substitution C A stop_gained G529* 1585G>T LIRI-JP 1 114948111 114948111 single base substitution C A stop_gained G657* 1969G>T LIRI-JP 1 114948111 114948111 single base substitution C A stop_gained G897* 2689G>T LIRI-JP 1 114948725 114948725 single base substitution A G intron_variant LIRI-JP 1 114950094 114950094 single base substitution T C intron_variant LIRI-JP 1 114950094 114950094 single base substitution T C upstream_gene_variant LIRI-JP 1 114950755 114950755 single base substitution T C intron_variant LIRI-JP 1 114950755 114950755 single base substitution T C upstream_gene_variant LIRI-JP 1 114952873 114952873 single base substitution T A synonymous_variant L341L 1023A>T LIRI-JP 1 114952873 114952873 single base substitution T A synonymous_variant L469L 1407A>T LIRI-JP 1 114952873 114952873 single base substitution T A synonymous_variant L709L 2127A>T LIRI-JP 1 114952873 114952873 single base substitution T A upstream_gene_variant LIRI-JP 1 114952926 114952926 single base substitution C A missense_variant G324C 970G>T LIRI-JP 1 114952926 114952926 single base substitution C A missense_variant G452C 1354G>T LIRI-JP 1 114952926 114952926 single base substitution C A missense_variant G692C 2074G>T LIRI-JP 1 114952926 114952926 single base substitution C A upstream_gene_variant LIRI-JP 1 114953607 114953607 single base substitution A T intron_variant LIRI-JP 1 114953607 114953607 single base substitution A T upstream_gene_variant LIRI-JP 1 114955624 114955624 single base substitution C A intron_variant LIRI-JP 1 114955847 114955847 single base substitution T C intron_variant LIRI-JP 1 114957000 114957000 single base substitution G A intron_variant LIRI-JP 1 114957422 114957422 single base substitution A G intron_variant LIRI-JP 1 114961257 114961257 single base substitution G A intron_variant LIRI-JP 1 114962112 114962112 single base substitution T C intron_variant LIRI-JP 1 114962342 114962342 single base substitution T C intron_variant LIRI-JP 1 114963233 114963233 single base substitution T A intron_variant LIRI-JP 1 114963959 114963959 single base substitution T C intron_variant LIRI-JP 1 114967754 114967754 single base substitution A T intron_variant LIRI-JP 1 114968926 114968926 single base substitution T C intron_variant LIRI-JP 1 114972564 114972564 single base substitution T C intron_variant LIRI-JP 1 114972959 114972959 single base substitution C A intron_variant LIRI-JP 1 114975606 114975606 single base substitution T C intron_variant LIRI-JP 1 114975921 114975921 single base substitution C T intron_variant LIRI-JP 1 114977961 114977961 single base substitution G A intron_variant LIRI-JP 1 114979222 114979222 single base substitution G A intron_variant LIRI-JP 1 114979706 114979706 single base substitution C T intron_variant LIRI-JP 1 114980238 114980238 single base substitution C T intron_variant LIRI-JP 1 114981138 114981138 single base substitution T C intron_variant LIRI-JP 1 114983863 114983863 single base substitution A C intron_variant LIRI-JP 1 114984609 114984609 single base substitution A C intron_variant LIRI-JP 1 114988387 114988387 single base substitution T C intron_variant LIRI-JP 1 114993384 114993384 single base substitution T C intron_variant LIRI-JP 1 114995614 114995614 single base substitution A T intron_variant LIRI-JP 1 114996370 114996370 single base substitution C T intron_variant LIRI-JP 1 114996381 114996381 single base substitution T G intron_variant LIRI-JP 1 114998242 114998242 single base substitution G T intron_variant LIRI-JP 1 115001610 115001610 single base substitution G A intron_variant LIRI-JP 1 115002272 115002272 single base substitution T C intron_variant LIRI-JP 1 115003474 115003474 single base substitution T C intron_variant LIRI-JP 1 115005781 115005781 single base substitution T G 5_prime_UTR_variant LIRI-JP 1 115005781 115005781 single base substitution T G missense_variant T26P 76A>C LIRI-JP 1 115005781 115005781 single base substitution T G missense_variant T290P 868A>C LIRI-JP 1 115007242 115007242 single base substitution T C intron_variant LIRI-JP 1 115007242 115007242 single base substitution T C upstream_gene_variant LIRI-JP 1 115007252 115007252 single base substitution T G intron_variant LIRI-JP 1 115007252 115007252 single base substitution T G upstream_gene_variant LIRI-JP 1 115007486 115007486 single base substitution T C intron_variant LIRI-JP 1 115007486 115007486 single base substitution T C upstream_gene_variant LIRI-JP 1 115009672 115009672 single base substitution G A intron_variant LIRI-JP 1 115009672 115009672 single base substitution G A upstream_gene_variant LIRI-JP 1 115011758 115011758 deletion of <=200bp A - intron_variant LIRI-JP 1 115014610 115014610 single base substitution C A intron_variant LIRI-JP 1 115015187 115015187 single base substitution T C intron_variant LIRI-JP 1 115015279 115015279 single base substitution G A intron_variant LIRI-JP 1 115016771 115016771 single base substitution C A intron_variant LIRI-JP 1 115024012 115024012 single base substitution A G intron_variant LIRI-JP 1 115024469 115024469 single base substitution C T intron_variant LIRI-JP 1 115024590 115024590 single base substitution C T intron_variant LIRI-JP 1 115026348 115026348 single base substitution T C intron_variant LIRI-JP 1 115026397 115026397 single base substitution T C intron_variant LIRI-JP 1 115029104 115029104 single base substitution G T intron_variant LIRI-JP 1 115034039 115034039 single base substitution A T intron_variant LIRI-JP 1 115034599 115034599 single base substitution G C intron_variant LIRI-JP 1 115035366 115035366 single base substitution G A intron_variant LIRI-JP 1 115036187 115036187 single base substitution G A intron_variant LIRI-JP 1 115041553 115041553 single base substitution A G intron_variant LIRI-JP 1 115043533 115043533 single base substitution C G intron_variant LIRI-JP 1 115050173 115050173 single base substitution T C intron_variant LIRI-JP 1 115050734 115050734 single base substitution T C intron_variant LIRI-JP 1 115051490 115051490 single base substitution T C intron_variant LIRI-JP 1 115052642 115052642 single base substitution T G intron_variant LIRI-JP 1 115055735 115055735 single base substitution G A upstream_gene_variant LIRI-JP 1 115056589 115056589 single base substitution A G upstream_gene_variant LIRI-JP 1 115056732 115056732 single base substitution G T upstream_gene_variant LUSC-KR 1 114933646 114933646 single base substitution C A downstream_gene_variant LUSC-KR 1 114936985 114936985 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 114936985 114936985 single base substitution T C downstream_gene_variant LUSC-KR 1 114937640 114937640 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 114937640 114937640 single base substitution G A downstream_gene_variant LUSC-KR 1 114940229 114940229 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 114940229 114940229 single base substitution G T downstream_gene_variant LUSC-KR 1 114940229 114940229 single base substitution G T intron_variant LUSC-KR 1 114944100 114944100 single base substitution G A downstream_gene_variant LUSC-KR 1 114944100 114944100 single base substitution G A intron_variant LUSC-KR 1 114944100 114944100 single base substitution G A upstream_gene_variant LUSC-KR 1 114947737 114947737 single base substitution C A exon_variant LUSC-KR 1 114947737 114947737 single base substitution C A intron_variant LUSC-KR 1 114948580 114948580 single base substitution T A intron_variant LUSC-KR 1 114955105 114955105 single base substitution T A intron_variant LUSC-KR 1 114955121 114955121 single base substitution T A intron_variant LUSC-KR 1 114956341 114956341 single base substitution T G intron_variant LUSC-KR 1 114995186 114995186 single base substitution A T intron_variant LUSC-KR 1 114997770 114997770 single base substitution C A intron_variant LUSC-KR 1 115004616 115004616 single base substitution T C intron_variant LUSC-KR 1 115006453 115006453 single base substitution C G intron_variant LUSC-KR 1 115006453 115006453 single base substitution C G upstream_gene_variant LUSC-KR 1 115007529 115007529 single base substitution T A intron_variant LUSC-KR 1 115007529 115007529 single base substitution T A upstream_gene_variant LUSC-KR 1 115009469 115009469 single base substitution T C intron_variant LUSC-KR 1 115009469 115009469 single base substitution T C upstream_gene_variant LUSC-KR 1 115009972 115009972 single base substitution G A intron_variant LUSC-KR 1 115009972 115009972 single base substitution G A upstream_gene_variant LUSC-KR 1 115011646 115011646 single base substitution G A intron_variant LUSC-KR 1 115012131 115012131 single base substitution G A intron_variant LUSC-KR 1 115014487 115014487 single base substitution C A intron_variant LUSC-KR 1 115016330 115016330 single base substitution G A intron_variant LUSC-KR 1 115022046 115022046 single base substitution C A intron_variant LUSC-KR 1 115030374 115030374 single base substitution C A intron_variant LUSC-KR 1 115032693 115032693 single base substitution C G intron_variant LUSC-KR 1 115034503 115034503 single base substitution G A intron_variant LUSC-KR 1 115044277 115044277 single base substitution C A intron_variant LUSC-KR 1 115048512 115048512 single base substitution T A intron_variant LUSC-KR 1 115058361 115058361 single base substitution G A upstream_gene_variant LUSC-US 1 114949569 114949569 single base substitution A C exon_variant LUSC-US 1 114949569 114949569 single base substitution A C synonymous_variant A436A 1308T>G LUSC-US 1 114949569 114949569 single base substitution A C synonymous_variant A564A 1692T>G LUSC-US 1 114949569 114949569 single base substitution A C synonymous_variant A804A 2412T>G LUSC-US 1 114969855 114969855 single base substitution C G missense_variant G191A 572G>C LUSC-US 1 114969855 114969855 single base substitution C G missense_variant G455A 1364G>C LUSC-US 1 114969855 114969855 single base substitution C G missense_variant G63A 188G>C LUSC-US 1 114970445 114970445 single base substitution C T synonymous_variant V145V 435G>A LUSC-US 1 114970445 114970445 single base substitution C T synonymous_variant V17V 51G>A LUSC-US 1 114970445 114970445 single base substitution C T synonymous_variant V409V 1227G>A LUSC-US 1 114970454 114970454 single base substitution G A synonymous_variant S142S 426C>T LUSC-US 1 114970454 114970454 single base substitution G A synonymous_variant S14S 42C>T LUSC-US 1 114970454 114970454 single base substitution G A synonymous_variant S406S 1218C>T MALY-DE 1 114940213 114940213 single base substitution T G 3_prime_UTR_variant MALY-DE 1 114940213 114940213 single base substitution T G downstream_gene_variant MALY-DE 1 114940213 114940213 single base substitution T G intron_variant MALY-DE 1 114944661 114944661 single base substitution G C downstream_gene_variant MALY-DE 1 114944661 114944661 single base substitution G C intron_variant MALY-DE 1 114944661 114944661 single base substitution G C upstream_gene_variant MALY-DE 1 114952905 114952905 single base substitution G C missense_variant L331V 991C>G MALY-DE 1 114952905 114952905 single base substitution G C missense_variant L459V 1375C>G MALY-DE 1 114952905 114952905 single base substitution G C missense_variant L699V 2095C>G MALY-DE 1 114952905 114952905 single base substitution G C upstream_gene_variant MALY-DE 1 114960827 114960827 single base substitution T C intron_variant MALY-DE 1 114960951 114960951 single base substitution G A intron_variant MALY-DE 1 114976170 114976170 single base substitution A C intron_variant MALY-DE 1 114976172 114976172 single base substitution A G intron_variant MALY-DE 1 114985284 114985284 single base substitution T G intron_variant MALY-DE 1 114986043 114986043 single base substitution G A intron_variant MALY-DE 1 114987990 114987990 single base substitution G A intron_variant MALY-DE 1 114993099 114993099 single base substitution A G intron_variant MALY-DE 1 114994234 114994234 single base substitution G T intron_variant MALY-DE 1 114997197 114997197 single base substitution A G intron_variant MALY-DE 1 114997888 114997888 single base substitution T C intron_variant MALY-DE 1 114998086 114998086 single base substitution G A intron_variant MALY-DE 1 115008902 115008902 single base substitution A G intron_variant MALY-DE 1 115008902 115008902 single base substitution A G upstream_gene_variant MALY-DE 1 115010692 115010692 single base substitution A G intron_variant MALY-DE 1 115010692 115010692 single base substitution A G upstream_gene_variant MALY-DE 1 115016352 115016352 single base substitution A C intron_variant MALY-DE 1 115029577 115029577 single base substitution C T intron_variant MALY-DE 1 115034537 115034537 single base substitution A T intron_variant MALY-DE 1 115037551 115037551 single base substitution A G intron_variant MALY-DE 1 115038281 115038281 single base substitution G T intron_variant MALY-DE 1 115052496 115052496 single base substitution G A intron_variant MELA-AU 1 114930447 114930447 single base substitution G A downstream_gene_variant MELA-AU 1 114930452 114930452 single base substitution C T downstream_gene_variant MELA-AU 1 114930993 114930993 single base substitution A T downstream_gene_variant MELA-AU 1 114931487 114931487 single base substitution C T downstream_gene_variant MELA-AU 1 114932867 114932867 single base substitution G A downstream_gene_variant MELA-AU 1 114934993 114934993 single base substitution G T downstream_gene_variant MELA-AU 1 114934995 114934995 single base substitution G A downstream_gene_variant MELA-AU 1 114935057 114935057 single base substitution C T downstream_gene_variant MELA-AU 1 114935550 114935550 single base substitution A G 3_prime_UTR_variant MELA-AU 1 114935550 114935550 single base substitution A G downstream_gene_variant MELA-AU 1 114935608 114935608 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114935608 114935608 single base substitution G A downstream_gene_variant MELA-AU 1 114935717 114935717 single base substitution C T 3_prime_UTR_variant MELA-AU 1 114935717 114935717 single base substitution C T downstream_gene_variant MELA-AU 1 114935949 114935949 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114935949 114935949 single base substitution G A downstream_gene_variant MELA-AU 1 114936628 114936628 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114936628 114936628 single base substitution G A downstream_gene_variant MELA-AU 1 114937680 114937680 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114937680 114937680 single base substitution G A downstream_gene_variant MELA-AU 1 114937941 114937941 single base substitution T C 3_prime_UTR_variant MELA-AU 1 114937941 114937941 single base substitution T C downstream_gene_variant MELA-AU 1 114938677 114938677 single base substitution A T 3_prime_UTR_variant MELA-AU 1 114938677 114938677 single base substitution A T downstream_gene_variant MELA-AU 1 114938786 114938786 single base substitution T A 3_prime_UTR_variant MELA-AU 1 114938786 114938786 single base substitution T A downstream_gene_variant MELA-AU 1 114938968 114938968 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114938968 114938968 single base substitution G A downstream_gene_variant MELA-AU 1 114938968 114938968 single base substitution G A exon_variant MELA-AU 1 114939622 114939622 single base substitution G A 3_prime_UTR_variant MELA-AU 1 114939622 114939622 single base substitution G A downstream_gene_variant MELA-AU 1 114939622 114939622 single base substitution G A intron_variant MELA-AU 1 114939796 114939797 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 114939796 114939797 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 114939796 114939797 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 114940389 114940389 single base substitution A G exon_variant MELA-AU 1 114940389 114940389 single base substitution A G synonymous_variant L1072L 3214T>C MELA-AU 1 114940389 114940389 single base substitution A G synonymous_variant L1089L 3265T>C MELA-AU 1 114940389 114940389 single base substitution A G synonymous_variant L721L 2161T>C MELA-AU 1 114940389 114940389 single base substitution A G synonymous_variant L849L 2545T>C MELA-AU 1 114940695 114940695 single base substitution G A intron_variant MELA-AU 1 114940695 114940695 single base substitution G A upstream_gene_variant MELA-AU 1 114940736 114940736 single base substitution G A intron_variant MELA-AU 1 114940736 114940736 single base substitution G A upstream_gene_variant MELA-AU 1 114940860 114940860 single base substitution G A intron_variant MELA-AU 1 114940860 114940860 single base substitution G A upstream_gene_variant MELA-AU 1 114941310 114941310 single base substitution T C intron_variant MELA-AU 1 114941310 114941310 single base substitution T C upstream_gene_variant MELA-AU 1 114941855 114941855 single base substitution A T intron_variant MELA-AU 1 114941855 114941855 single base substitution A T upstream_gene_variant MELA-AU 1 114942045 114942045 single base substitution A T downstream_gene_variant MELA-AU 1 114942045 114942045 single base substitution A T intron_variant MELA-AU 1 114942045 114942045 single base substitution A T upstream_gene_variant MELA-AU 1 114942256 114942256 single base substitution T A downstream_gene_variant MELA-AU 1 114942256 114942256 single base substitution T A intron_variant MELA-AU 1 114942256 114942256 single base substitution T A upstream_gene_variant MELA-AU 1 114942258 114942258 single base substitution A G downstream_gene_variant MELA-AU 1 114942258 114942258 single base substitution A G intron_variant MELA-AU 1 114942258 114942258 single base substitution A G upstream_gene_variant MELA-AU 1 114942354 114942354 single base substitution T G downstream_gene_variant MELA-AU 1 114942354 114942354 single base substitution T G intron_variant MELA-AU 1 114942354 114942354 single base substitution T G upstream_gene_variant MELA-AU 1 114942465 114942465 single base substitution G A downstream_gene_variant MELA-AU 1 114942465 114942465 single base substitution G A intron_variant MELA-AU 1 114942465 114942465 single base substitution G A upstream_gene_variant MELA-AU 1 114942835 114942835 single base substitution G A downstream_gene_variant MELA-AU 1 114942835 114942835 single base substitution G A intron_variant MELA-AU 1 114942835 114942835 single base substitution G A upstream_gene_variant MELA-AU 1 114943794 114943794 single base substitution G A downstream_gene_variant MELA-AU 1 114943794 114943794 single base substitution G A intron_variant MELA-AU 1 114943794 114943794 single base substitution G A upstream_gene_variant MELA-AU 1 114943850 114943850 single base substitution G A downstream_gene_variant MELA-AU 1 114943850 114943850 single base substitution G A intron_variant MELA-AU 1 114943850 114943850 single base substitution G A upstream_gene_variant MELA-AU 1 114944896 114944896 single base substitution G A downstream_gene_variant MELA-AU 1 114944896 114944896 single base substitution G A intron_variant MELA-AU 1 114944896 114944896 single base substitution G A upstream_gene_variant MELA-AU 1 114945458 114945458 single base substitution A G downstream_gene_variant MELA-AU 1 114945458 114945458 single base substitution A G missense_variant V571A 1712T>C MELA-AU 1 114945458 114945458 single base substitution A G missense_variant V699A 2096T>C MELA-AU 1 114945458 114945458 single base substitution A G missense_variant V939A 2816T>C MELA-AU 1 114945458 114945458 single base substitution A G upstream_gene_variant MELA-AU 1 114945954 114945954 single base substitution G A downstream_gene_variant MELA-AU 1 114945954 114945954 single base substitution G A intron_variant MELA-AU 1 114945954 114945954 single base substitution G A upstream_gene_variant MELA-AU 1 114946156 114946156 single base substitution C A downstream_gene_variant MELA-AU 1 114946156 114946156 single base substitution C A intron_variant MELA-AU 1 114946156 114946156 single base substitution C A upstream_gene_variant MELA-AU 1 114946242 114946242 single base substitution C T downstream_gene_variant MELA-AU 1 114946242 114946242 single base substitution C T intron_variant MELA-AU 1 114946242 114946242 single base substitution C T upstream_gene_variant MELA-AU 1 114946958 114946958 single base substitution G A exon_variant MELA-AU 1 114946958 114946958 single base substitution G A intron_variant MELA-AU 1 114946958 114946958 single base substitution G A upstream_gene_variant MELA-AU 1 114947057 114947057 single base substitution C T exon_variant MELA-AU 1 114947057 114947057 single base substitution C T intron_variant MELA-AU 1 114947057 114947057 single base substitution C T upstream_gene_variant MELA-AU 1 114947376 114947376 single base substitution A T exon_variant MELA-AU 1 114947376 114947376 single base substitution A T intron_variant MELA-AU 1 114947773 114947773 single base substitution G C exon_variant MELA-AU 1 114947773 114947773 single base substitution G C intron_variant MELA-AU 1 114948859 114948859 single base substitution C A intron_variant MELA-AU 1 114949101 114949101 single base substitution G A intron_variant MELA-AU 1 114949790 114949790 single base substitution G A intron_variant MELA-AU 1 114949790 114949790 single base substitution G A upstream_gene_variant MELA-AU 1 114950250 114950250 single base substitution G A intron_variant MELA-AU 1 114950250 114950250 single base substitution G A upstream_gene_variant MELA-AU 1 114950658 114950658 single base substitution G A intron_variant MELA-AU 1 114950658 114950658 single base substitution G A upstream_gene_variant MELA-AU 1 114951463 114951463 single base substitution A C intron_variant MELA-AU 1 114951463 114951463 single base substitution A C upstream_gene_variant MELA-AU 1 114952844 114952844 single base substitution G A missense_variant P351L 1052C>T MELA-AU 1 114952844 114952844 single base substitution G A missense_variant P479L 1436C>T MELA-AU 1 114952844 114952844 single base substitution G A missense_variant P719L 2156C>T MELA-AU 1 114952844 114952844 single base substitution G A upstream_gene_variant MELA-AU 1 114952944 114952944 single base substitution G A splice_region_variant MELA-AU 1 114952944 114952944 single base substitution G A upstream_gene_variant MELA-AU 1 114953634 114953634 single base substitution A T intron_variant MELA-AU 1 114953634 114953634 single base substitution A T upstream_gene_variant MELA-AU 1 114953975 114953975 single base substitution G A intron_variant MELA-AU 1 114953975 114953975 single base substitution G A upstream_gene_variant MELA-AU 1 114954180 114954180 single base substitution G A intron_variant MELA-AU 1 114954180 114954180 single base substitution G A upstream_gene_variant MELA-AU 1 114954334 114954334 single base substitution G A intron_variant MELA-AU 1 114954334 114954334 single base substitution G A upstream_gene_variant MELA-AU 1 114954407 114954407 single base substitution G A intron_variant MELA-AU 1 114954407 114954407 single base substitution G A upstream_gene_variant MELA-AU 1 114954748 114954748 single base substitution G A intron_variant MELA-AU 1 114955108 114955108 single base substitution A G intron_variant MELA-AU 1 114955410 114955410 single base substitution C T intron_variant MELA-AU 1 114955848 114955848 single base substitution G A intron_variant MELA-AU 1 114956432 114956432 single base substitution G A intron_variant MELA-AU 1 114959260 114959260 single base substitution C T intron_variant MELA-AU 1 114959452 114959452 single base substitution A G intron_variant MELA-AU 1 114959588 114959588 single base substitution C T intron_variant MELA-AU 1 114959673 114959673 single base substitution T C intron_variant MELA-AU 1 114959865 114959866 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 114960152 114960152 single base substitution A T intron_variant MELA-AU 1 114960221 114960221 single base substitution G A intron_variant MELA-AU 1 114960224 114960224 single base substitution C A intron_variant MELA-AU 1 114961450 114961451 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 1 114961813 114961813 single base substitution A C intron_variant MELA-AU 1 114962464 114962464 single base substitution T C intron_variant MELA-AU 1 114962754 114962754 single base substitution G A intron_variant MELA-AU 1 114962835 114962835 single base substitution G A intron_variant MELA-AU 1 114963179 114963179 single base substitution G A intron_variant MELA-AU 1 114963849 114963849 single base substitution G A intron_variant MELA-AU 1 114964149 114964150 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P265F 793CC>TT MELA-AU 1 114964149 114964150 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P393F 1177CC>TT MELA-AU 1 114964149 114964150 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P657F 1969CC>TT MELA-AU 1 114964825 114964825 single base substitution A T intron_variant MELA-AU 1 114964840 114964840 single base substitution G A intron_variant MELA-AU 1 114964879 114964879 single base substitution A G intron_variant MELA-AU 1 114965040 114965040 single base substitution G A intron_variant MELA-AU 1 114965070 114965070 single base substitution G A intron_variant MELA-AU 1 114965117 114965117 single base substitution G A intron_variant MELA-AU 1 114965397 114965397 single base substitution G A intron_variant MELA-AU 1 114965627 114965627 single base substitution G A intron_variant MELA-AU 1 114965881 114965881 single base substitution A C intron_variant MELA-AU 1 114966053 114966053 single base substitution G A intron_variant MELA-AU 1 114966967 114966967 single base substitution T C intron_variant MELA-AU 1 114967708 114967708 single base substitution G A intron_variant MELA-AU 1 114969549 114969549 single base substitution G A intron_variant MELA-AU 1 114969925 114969925 single base substitution G A intron_variant MELA-AU 1 114969966 114969966 single base substitution G A intron_variant MELA-AU 1 114970225 114970225 single base substitution G A intron_variant MELA-AU 1 114971262 114971262 single base substitution G A intron_variant MELA-AU 1 114972961 114972961 single base substitution G A intron_variant MELA-AU 1 114973467 114973467 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 114973467 114973467 single base substitution T C missense_variant I106V 316A>G MELA-AU 1 114973467 114973467 single base substitution T C missense_variant I370V 1108A>G MELA-AU 1 114973692 114973692 single base substitution T C intron_variant MELA-AU 1 114974079 114974079 single base substitution C T intron_variant MELA-AU 1 114974340 114974340 single base substitution G A intron_variant MELA-AU 1 114975924 114975924 single base substitution T C intron_variant MELA-AU 1 114976011 114976011 single base substitution G A intron_variant MELA-AU 1 114976425 114976425 single base substitution C T intron_variant MELA-AU 1 114977070 114977070 single base substitution G A intron_variant MELA-AU 1 114977301 114977301 single base substitution A T intron_variant MELA-AU 1 114977719 114977719 single base substitution G A intron_variant MELA-AU 1 114978027 114978027 single base substitution G A intron_variant MELA-AU 1 114978240 114978240 single base substitution G A intron_variant MELA-AU 1 114978593 114978593 single base substitution G A intron_variant MELA-AU 1 114978807 114978807 single base substitution G A intron_variant MELA-AU 1 114979136 114979136 single base substitution G A intron_variant MELA-AU 1 114979276 114979277 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 114979427 114979427 single base substitution G A intron_variant MELA-AU 1 114979545 114979545 single base substitution A G intron_variant MELA-AU 1 114979836 114979836 single base substitution C T intron_variant MELA-AU 1 114980052 114980052 single base substitution C T intron_variant MELA-AU 1 114980911 114980911 single base substitution A G intron_variant MELA-AU 1 114982425 114982425 single base substitution G A intron_variant MELA-AU 1 114982452 114982452 single base substitution A G intron_variant MELA-AU 1 114982459 114982459 single base substitution T A intron_variant MELA-AU 1 114982998 114982998 single base substitution C T intron_variant MELA-AU 1 114983905 114983905 single base substitution G A intron_variant MELA-AU 1 114984552 114984552 single base substitution G A intron_variant MELA-AU 1 114984607 114984607 single base substitution G A intron_variant MELA-AU 1 114985204 114985204 single base substitution G A intron_variant MELA-AU 1 114985933 114985933 single base substitution G A intron_variant MELA-AU 1 114986769 114986769 single base substitution G A intron_variant MELA-AU 1 114987373 114987373 single base substitution T C intron_variant MELA-AU 1 114987717 114987717 single base substitution T A intron_variant MELA-AU 1 114987839 114987839 single base substitution G A intron_variant MELA-AU 1 114988164 114988164 single base substitution G A intron_variant MELA-AU 1 114988618 114988618 single base substitution T A intron_variant MELA-AU 1 114990212 114990212 single base substitution G A intron_variant MELA-AU 1 114990763 114990764 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 114990764 114990764 single base substitution G A intron_variant MELA-AU 1 114990923 114990923 single base substitution G A intron_variant MELA-AU 1 114991025 114991025 single base substitution G A intron_variant MELA-AU 1 114991234 114991234 single base substitution G A intron_variant MELA-AU 1 114991656 114991656 single base substitution G A intron_variant MELA-AU 1 114992497 114992497 single base substitution G A intron_variant MELA-AU 1 114992623 114992623 single base substitution C T intron_variant MELA-AU 1 114993646 114993646 single base substitution G A intron_variant MELA-AU 1 114993683 114993683 single base substitution G A intron_variant MELA-AU 1 114993929 114993929 single base substitution C T intron_variant MELA-AU 1 114994758 114994758 single base substitution T C intron_variant MELA-AU 1 114994866 114994866 single base substitution G A intron_variant MELA-AU 1 114995003 114995003 single base substitution A C intron_variant MELA-AU 1 114995134 114995134 single base substitution A G intron_variant MELA-AU 1 114995336 114995336 single base substitution A G intron_variant MELA-AU 1 114995745 114995745 single base substitution G A intron_variant MELA-AU 1 114998088 114998088 single base substitution A C intron_variant MELA-AU 1 114998162 114998162 single base substitution A T intron_variant MELA-AU 1 114998209 114998209 single base substitution G A intron_variant MELA-AU 1 114998229 114998229 single base substitution G A intron_variant MELA-AU 1 114998286 114998286 single base substitution G A intron_variant MELA-AU 1 114998573 114998574 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 114998869 114998869 single base substitution G A intron_variant MELA-AU 1 114998932 114998932 single base substitution G A intron_variant MELA-AU 1 114998974 114998974 single base substitution G A intron_variant MELA-AU 1 115001253 115001253 single base substitution G A intron_variant MELA-AU 1 115001470 115001470 single base substitution A G intron_variant MELA-AU 1 115001573 115001573 single base substitution T C intron_variant MELA-AU 1 115001902 115001902 single base substitution G A intron_variant MELA-AU 1 115002012 115002013 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 115002376 115002376 single base substitution A T intron_variant MELA-AU 1 115002463 115002463 single base substitution A C intron_variant MELA-AU 1 115002708 115002708 single base substitution G A intron_variant MELA-AU 1 115003115 115003115 single base substitution G T intron_variant MELA-AU 1 115004021 115004022 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 1 115004168 115004168 single base substitution G A intron_variant MELA-AU 1 115004214 115004214 single base substitution G A intron_variant MELA-AU 1 115004645 115004645 single base substitution G A intron_variant MELA-AU 1 115004759 115004759 single base substitution A C intron_variant MELA-AU 1 115005963 115005963 single base substitution G C intron_variant MELA-AU 1 115005963 115005963 single base substitution G C upstream_gene_variant MELA-AU 1 115005995 115005995 single base substitution A G intron_variant MELA-AU 1 115005995 115005995 single base substitution A G upstream_gene_variant MELA-AU 1 115006370 115006370 single base substitution G A intron_variant MELA-AU 1 115006370 115006370 single base substitution G A upstream_gene_variant MELA-AU 1 115006752 115006752 single base substitution A G intron_variant MELA-AU 1 115006752 115006752 single base substitution A G upstream_gene_variant MELA-AU 1 115007035 115007035 single base substitution T C intron_variant MELA-AU 1 115007035 115007035 single base substitution T C upstream_gene_variant MELA-AU 1 115007270 115007270 single base substitution G A intron_variant MELA-AU 1 115007270 115007270 single base substitution G A upstream_gene_variant MELA-AU 1 115009028 115009028 single base substitution C T intron_variant MELA-AU 1 115009028 115009028 single base substitution C T upstream_gene_variant MELA-AU 1 115010522 115010522 single base substitution G A intron_variant MELA-AU 1 115010522 115010522 single base substitution G A upstream_gene_variant MELA-AU 1 115011191 115011191 single base substitution C A intron_variant MELA-AU 1 115011492 115011492 single base substitution G A intron_variant MELA-AU 1 115011646 115011646 single base substitution G A intron_variant MELA-AU 1 115011897 115011897 single base substitution A G intron_variant MELA-AU 1 115011957 115011957 single base substitution G A intron_variant MELA-AU 1 115012044 115012044 single base substitution G A intron_variant MELA-AU 1 115012267 115012267 single base substitution A T intron_variant MELA-AU 1 115012767 115012767 single base substitution G A intron_variant MELA-AU 1 115013068 115013068 single base substitution G A intron_variant MELA-AU 1 115013556 115013556 single base substitution G A intron_variant MELA-AU 1 115013635 115013635 single base substitution G A intron_variant MELA-AU 1 115013931 115013931 single base substitution C T intron_variant MELA-AU 1 115014454 115014454 single base substitution A T intron_variant MELA-AU 1 115014791 115014791 single base substitution C T intron_variant MELA-AU 1 115014985 115014985 single base substitution G A intron_variant MELA-AU 1 115015115 115015115 single base substitution G A intron_variant MELA-AU 1 115015866 115015866 single base substitution G A intron_variant MELA-AU 1 115015943 115015943 single base substitution G A intron_variant MELA-AU 1 115016228 115016228 single base substitution G A intron_variant MELA-AU 1 115016389 115016389 single base substitution G T intron_variant MELA-AU 1 115016480 115016480 single base substitution G A intron_variant MELA-AU 1 115016817 115016817 single base substitution C T intron_variant MELA-AU 1 115017172 115017172 single base substitution G A intron_variant MELA-AU 1 115017382 115017382 single base substitution C A intron_variant MELA-AU 1 115017556 115017556 single base substitution G A intron_variant MELA-AU 1 115018854 115018855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 115018965 115018965 single base substitution G A intron_variant MELA-AU 1 115019199 115019199 single base substitution A C intron_variant MELA-AU 1 115019500 115019500 single base substitution G A intron_variant MELA-AU 1 115019755 115019755 single base substitution G A intron_variant MELA-AU 1 115020158 115020158 single base substitution G A intron_variant MELA-AU 1 115020695 115020695 single base substitution G A intron_variant MELA-AU 1 115021109 115021109 single base substitution G C intron_variant MELA-AU 1 115022157 115022157 single base substitution G A intron_variant MELA-AU 1 115022480 115022480 single base substitution G A intron_variant MELA-AU 1 115022663 115022664 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 115022899 115022899 single base substitution G A intron_variant MELA-AU 1 115023460 115023460 single base substitution G T intron_variant MELA-AU 1 115024095 115024095 single base substitution C T intron_variant MELA-AU 1 115024142 115024142 single base substitution G A intron_variant MELA-AU 1 115024946 115024946 single base substitution C A intron_variant MELA-AU 1 115025026 115025026 single base substitution G A intron_variant MELA-AU 1 115025580 115025580 single base substitution G A intron_variant MELA-AU 1 115025725 115025725 single base substitution G A intron_variant MELA-AU 1 115026018 115026018 single base substitution G A intron_variant MELA-AU 1 115026325 115026325 single base substitution T C intron_variant MELA-AU 1 115027370 115027370 single base substitution C T intron_variant MELA-AU 1 115028821 115028821 single base substitution C T intron_variant MELA-AU 1 115028861 115028861 single base substitution G A intron_variant MELA-AU 1 115028975 115028975 single base substitution G A intron_variant MELA-AU 1 115029391 115029391 single base substitution G A intron_variant MELA-AU 1 115030788 115030788 single base substitution G C intron_variant MELA-AU 1 115033559 115033559 single base substitution G A intron_variant MELA-AU 1 115034338 115034338 single base substitution A C intron_variant MELA-AU 1 115034652 115034652 single base substitution A G intron_variant MELA-AU 1 115035523 115035523 single base substitution C G intron_variant MELA-AU 1 115035555 115035555 single base substitution G A intron_variant MELA-AU 1 115035597 115035598 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 115035774 115035774 single base substitution G A intron_variant MELA-AU 1 115035932 115035932 single base substitution C A intron_variant MELA-AU 1 115036886 115036886 single base substitution T A intron_variant MELA-AU 1 115037038 115037038 single base substitution G A intron_variant MELA-AU 1 115037823 115037823 single base substitution C T intron_variant MELA-AU 1 115039679 115039679 single base substitution G A intron_variant MELA-AU 1 115042088 115042088 single base substitution G A intron_variant MELA-AU 1 115042284 115042284 single base substitution A T intron_variant MELA-AU 1 115042484 115042484 single base substitution G A intron_variant MELA-AU 1 115043068 115043068 single base substitution C T intron_variant MELA-AU 1 115043476 115043476 single base substitution A T intron_variant MELA-AU 1 115043597 115043598 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 115044396 115044396 single base substitution A G intron_variant MELA-AU 1 115045460 115045460 single base substitution G A intron_variant MELA-AU 1 115046032 115046032 single base substitution G A intron_variant MELA-AU 1 115046130 115046130 single base substitution T A intron_variant MELA-AU 1 115046159 115046159 single base substitution A C intron_variant MELA-AU 1 115046290 115046290 single base substitution A T intron_variant MELA-AU 1 115046410 115046410 single base substitution G A intron_variant MELA-AU 1 115046558 115046560 deletion of <=200bp TCT - intron_variant MELA-AU 1 115046781 115046781 single base substitution T A intron_variant MELA-AU 1 115046952 115046952 single base substitution T A intron_variant MELA-AU 1 115047775 115047775 single base substitution G A intron_variant MELA-AU 1 115048100 115048100 single base substitution A G intron_variant MELA-AU 1 115048459 115048459 single base substitution G A intron_variant MELA-AU 1 115048634 115048634 single base substitution G A intron_variant MELA-AU 1 115051221 115051221 single base substitution C T intron_variant MELA-AU 1 115052233 115052233 single base substitution G T intron_variant MELA-AU 1 115052692 115052692 single base substitution C A intron_variant MELA-AU 1 115053852 115053852 single base substitution C T upstream_gene_variant MELA-AU 1 115055937 115055937 single base substitution C T upstream_gene_variant MELA-AU 1 115056152 115056152 single base substitution C T upstream_gene_variant MELA-AU 1 115056346 115056346 single base substitution C T upstream_gene_variant MELA-AU 1 115056474 115056474 single base substitution C T upstream_gene_variant MELA-AU 1 115056662 115056662 single base substitution C T upstream_gene_variant MELA-AU 1 115057218 115057218 single base substitution C T upstream_gene_variant MELA-AU 1 115057509 115057509 single base substitution G A upstream_gene_variant MELA-AU 1 115057902 115057902 single base substitution G A upstream_gene_variant MELA-AU 1 115058012 115058012 single base substitution C T upstream_gene_variant MELA-AU 1 115058563 115058563 single base substitution C T upstream_gene_variant MELA-AU 1 115058716 115058716 single base substitution C T upstream_gene_variant ORCA-IN 1 114930506 114930506 single base substitution G A downstream_gene_variant ORCA-IN 1 114969144 114969145 deletion of <=200bp TA - intron_variant ORCA-IN 1 114971273 114971273 single base substitution T C intron_variant ORCA-IN 1 114978584 114978584 single base substitution G A intron_variant ORCA-IN 1 114979525 114979525 single base substitution A G intron_variant ORCA-IN 1 114986747 114986747 single base substitution T C intron_variant ORCA-IN 1 114988498 114988498 single base substitution G C intron_variant ORCA-IN 1 114988606 114988606 single base substitution G A intron_variant ORCA-IN 1 115013263 115013263 single base substitution C T intron_variant ORCA-IN 1 115018547 115018547 single base substitution G A intron_variant ORCA-IN 1 115053117 115053117 single base substitution C G intron_variant ORCA-IN 1 115053208 115053208 single base substitution G T missense_variant P164T 490C>A ORCA-IN 1 115056426 115056426 single base substitution G C upstream_gene_variant ORCA-IN 1 115056643 115056643 single base substitution A C upstream_gene_variant OV-AU 1 114937285 114937285 single base substitution C A 3_prime_UTR_variant OV-AU 1 114937285 114937285 single base substitution C A downstream_gene_variant OV-AU 1 114938895 114938895 single base substitution C T 3_prime_UTR_variant OV-AU 1 114938895 114938895 single base substitution C T downstream_gene_variant OV-AU 1 114938895 114938895 single base substitution C T exon_variant OV-AU 1 114943663 114943663 single base substitution T C downstream_gene_variant OV-AU 1 114943663 114943663 single base substitution T C intron_variant OV-AU 1 114943663 114943663 single base substitution T C upstream_gene_variant OV-AU 1 114943807 114943807 single base substitution C T downstream_gene_variant OV-AU 1 114943807 114943807 single base substitution C T intron_variant OV-AU 1 114943807 114943807 single base substitution C T upstream_gene_variant OV-AU 1 114945023 114945023 single base substitution A G downstream_gene_variant OV-AU 1 114945023 114945023 single base substitution A G intron_variant OV-AU 1 114945023 114945023 single base substitution A G upstream_gene_variant OV-AU 1 114946878 114946878 single base substitution C A downstream_gene_variant OV-AU 1 114946878 114946878 single base substitution C A intron_variant OV-AU 1 114946878 114946878 single base substitution C A upstream_gene_variant OV-AU 1 114952420 114952420 single base substitution T C intron_variant OV-AU 1 114952420 114952420 single base substitution T C upstream_gene_variant OV-AU 1 114962395 114962395 single base substitution G A intron_variant OV-AU 1 114962446 114962446 single base substitution A C intron_variant OV-AU 1 114967813 114967813 single base substitution T C intron_variant OV-AU 1 114969077 114969077 single base substitution A T intron_variant OV-AU 1 114969144 114969144 single base substitution T A intron_variant OV-AU 1 114974990 114974990 single base substitution G C intron_variant OV-AU 1 114976251 114976251 single base substitution T G 5_prime_UTR_variant OV-AU 1 114976251 114976251 single base substitution T G missense_variant Q343P 1028A>C OV-AU 1 114976251 114976251 single base substitution T G missense_variant Q79P 236A>C OV-AU 1 114978812 114978812 single base substitution C G intron_variant OV-AU 1 114979174 114979174 single base substitution A C intron_variant OV-AU 1 114990380 114990380 single base substitution G T intron_variant OV-AU 1 114997257 114997257 single base substitution A T intron_variant OV-AU 1 115009695 115009695 single base substitution A G intron_variant OV-AU 1 115009695 115009695 single base substitution A G upstream_gene_variant OV-AU 1 115013136 115013136 single base substitution C A intron_variant OV-AU 1 115019981 115019981 single base substitution A C intron_variant OV-AU 1 115028721 115028721 single base substitution A C intron_variant OV-AU 1 115028808 115028808 single base substitution G C intron_variant OV-AU 1 115039780 115039780 single base substitution T A intron_variant OV-AU 1 115051812 115051812 single base substitution A G intron_variant OV-AU 1 115057647 115057647 single base substitution G T upstream_gene_variant PACA-AU 1 114943382 114943382 single base substitution A G downstream_gene_variant PACA-AU 1 114943382 114943382 single base substitution A G intron_variant PACA-AU 1 114943382 114943382 single base substitution A G upstream_gene_variant PACA-AU 1 114948275 114948275 single base substitution G A exon_variant PACA-AU 1 114948275 114948275 single base substitution G A missense_variant P474L 1421C>T PACA-AU 1 114948275 114948275 single base substitution G A missense_variant P602L 1805C>T PACA-AU 1 114948275 114948275 single base substitution G A missense_variant P842L 2525C>T PACA-AU 1 114951512 114951512 single base substitution C T intron_variant PACA-AU 1 114951512 114951512 single base substitution C T upstream_gene_variant PACA-AU 1 114958003 114958003 single base substitution C A intron_variant PACA-AU 1 114959513 114959513 single base substitution C T intron_variant PACA-AU 1 114961567 114961567 single base substitution C T intron_variant PACA-AU 1 114965881 114965881 deletion of <=200bp A - intron_variant PACA-AU 1 114965972 114965972 single base substitution A G intron_variant PACA-AU 1 114966210 114966210 single base substitution C T intron_variant PACA-AU 1 114966776 114966776 single base substitution A T intron_variant PACA-AU 1 114972736 114972736 single base substitution C G intron_variant PACA-AU 1 114975436 114975436 single base substitution G C intron_variant PACA-AU 1 114976296 114976296 single base substitution G A 5_prime_UTR_variant PACA-AU 1 114976296 114976296 single base substitution G A missense_variant A328V 983C>T PACA-AU 1 114976296 114976296 single base substitution G A missense_variant A64V 191C>T PACA-AU 1 114983787 114983787 single base substitution T C intron_variant PACA-AU 1 114996411 114996411 single base substitution C T intron_variant PACA-AU 1 114999229 114999229 insertion of <=200bp - A intron_variant PACA-AU 1 115000026 115000026 deletion of <=200bp A - intron_variant PACA-AU 1 115014191 115014191 single base substitution C T intron_variant PACA-AU 1 115027618 115027618 single base substitution G A intron_variant PACA-AU 1 115030659 115030659 single base substitution G A intron_variant PACA-AU 1 115031377 115031377 single base substitution C G intron_variant PACA-AU 1 115032389 115032389 single base substitution A T intron_variant PACA-AU 1 115032722 115032722 single base substitution A G intron_variant PACA-AU 1 115033125 115033125 single base substitution G A intron_variant PACA-AU 1 115040011 115040011 single base substitution C T intron_variant PACA-AU 1 115040131 115040131 single base substitution G T intron_variant PACA-AU 1 115041087 115041087 single base substitution T C intron_variant PACA-AU 1 115042009 115042009 single base substitution A C intron_variant PACA-AU 1 115042660 115042660 single base substitution G A intron_variant PACA-AU 1 115044949 115044949 single base substitution C T intron_variant PACA-AU 1 115045695 115045695 single base substitution A G intron_variant PACA-AU 1 115046038 115046038 single base substitution C T intron_variant PACA-AU 1 115054522 115054522 single base substitution A G upstream_gene_variant PACA-CA 1 114935508 114935508 single base substitution A G 3_prime_UTR_variant PACA-CA 1 114935508 114935508 single base substitution A G downstream_gene_variant PACA-CA 1 114939742 114939742 single base substitution T C 3_prime_UTR_variant PACA-CA 1 114939742 114939742 single base substitution T C downstream_gene_variant PACA-CA 1 114939742 114939742 single base substitution T C intron_variant PACA-CA 1 114940696 114940696 deletion of <=200bp A - intron_variant PACA-CA 1 114940696 114940696 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 114942570 114942570 single base substitution A T downstream_gene_variant PACA-CA 1 114942570 114942570 single base substitution A T intron_variant PACA-CA 1 114942570 114942570 single base substitution A T upstream_gene_variant PACA-CA 1 114943938 114943938 single base substitution G A downstream_gene_variant PACA-CA 1 114943938 114943938 single base substitution G A intron_variant PACA-CA 1 114943938 114943938 single base substitution G A upstream_gene_variant PACA-CA 1 114947470 114947470 single base substitution G A exon_variant PACA-CA 1 114947470 114947470 single base substitution G A intron_variant PACA-CA 1 114948012 114948012 single base substitution A T exon_variant PACA-CA 1 114948012 114948012 single base substitution A T intron_variant PACA-CA 1 114949750 114949750 single base substitution C T intron_variant PACA-CA 1 114949750 114949750 single base substitution C T upstream_gene_variant PACA-CA 1 114953013 114953013 single base substitution T C intron_variant PACA-CA 1 114953013 114953013 single base substitution T C upstream_gene_variant PACA-CA 1 114955247 114955247 single base substitution G C intron_variant PACA-CA 1 114955551 114955551 insertion of <=200bp - T intron_variant PACA-CA 1 114961840 114961840 single base substitution A G intron_variant PACA-CA 1 114965320 114965320 single base substitution C T intron_variant PACA-CA 1 114966776 114966776 single base substitution A T intron_variant PACA-CA 1 114970555 114970555 insertion of <=200bp - A intron_variant PACA-CA 1 114974417 114974417 single base substitution G A intron_variant PACA-CA 1 114980064 114980064 single base substitution G A intron_variant PACA-CA 1 114981503 114981503 single base substitution C T intron_variant PACA-CA 1 114983377 114983377 deletion of <=200bp A - intron_variant PACA-CA 1 114984126 114984126 single base substitution G T intron_variant PACA-CA 1 114984410 114984410 single base substitution G C intron_variant PACA-CA 1 114985004 114985007 deletion of <=200bp TGGA - intron_variant PACA-CA 1 114985078 114985078 single base substitution G A intron_variant PACA-CA 1 114985321 114985321 single base substitution A G intron_variant PACA-CA 1 114985989 114985989 single base substitution G A intron_variant PACA-CA 1 114988985 114988985 single base substitution C T intron_variant PACA-CA 1 114990869 114990869 single base substitution A C intron_variant PACA-CA 1 114991785 114991785 insertion of <=200bp - A intron_variant PACA-CA 1 114992042 114992042 single base substitution G A intron_variant PACA-CA 1 114992392 114992392 single base substitution A G intron_variant PACA-CA 1 114994125 114994125 single base substitution C T intron_variant PACA-CA 1 114997650 114997650 single base substitution T C intron_variant PACA-CA 1 115002527 115002527 single base substitution T A intron_variant PACA-CA 1 115005737 115005737 single base substitution G A 5_prime_UTR_variant PACA-CA 1 115005737 115005737 single base substitution G A synonymous_variant H304H 912C>T PACA-CA 1 115005737 115005737 single base substitution G A synonymous_variant H40H 120C>T PACA-CA 1 115008670 115008670 single base substitution A T intron_variant PACA-CA 1 115008670 115008670 single base substitution A T upstream_gene_variant PACA-CA 1 115010246 115010246 single base substitution A T intron_variant PACA-CA 1 115010246 115010246 single base substitution A T upstream_gene_variant PACA-CA 1 115014244 115014244 insertion of <=200bp - A intron_variant PACA-CA 1 115019006 115019006 insertion of <=200bp - A intron_variant PACA-CA 1 115021022 115021022 single base substitution A G intron_variant PACA-CA 1 115023283 115023283 single base substitution C T intron_variant PACA-CA 1 115023684 115023684 single base substitution C A intron_variant PACA-CA 1 115024297 115024297 single base substitution G A intron_variant PACA-CA 1 115029339 115029339 insertion of <=200bp - A intron_variant PACA-CA 1 115031252 115031252 single base substitution G A intron_variant PACA-CA 1 115031408 115031408 single base substitution T A intron_variant PACA-CA 1 115033455 115033455 single base substitution T A intron_variant PACA-CA 1 115035876 115035876 single base substitution A G intron_variant PACA-CA 1 115039873 115039873 single base substitution C T intron_variant PACA-CA 1 115039939 115039939 single base substitution T G intron_variant PACA-CA 1 115041046 115041046 single base substitution G A intron_variant PACA-CA 1 115041145 115041145 single base substitution C T intron_variant PACA-CA 1 115042124 115042124 single base substitution T C intron_variant PACA-CA 1 115043252 115043252 single base substitution A C intron_variant PACA-CA 1 115046760 115046760 single base substitution G A intron_variant PACA-CA 1 115046819 115046819 single base substitution C T intron_variant PACA-CA 1 115046923 115046923 single base substitution G A intron_variant PACA-CA 1 115047928 115047928 single base substitution G C intron_variant PACA-CA 1 115053315 115053315 single base substitution C A missense_variant C128F 383G>T PACA-CA 1 115055210 115055210 single base substitution C T upstream_gene_variant PACA-CA 1 115056065 115056071 deletion of <=200bp TAAAATG - upstream_gene_variant PACA-CA 1 115056254 115056254 single base substitution G A upstream_gene_variant PACA-CA 1 115057209 115057209 single base substitution C A upstream_gene_variant PAEN-AU 1 115015304 115015304 single base substitution T C intron_variant PAEN-AU 1 115036076 115036076 single base substitution T C intron_variant PAEN-IT 1 114982426 114982426 single base substitution A C intron_variant PAEN-IT 1 115039661 115039661 single base substitution C T intron_variant PBCA-DE 1 114941435 114941435 single base substitution G A intron_variant PBCA-DE 1 114941435 114941435 single base substitution G A upstream_gene_variant PBCA-DE 1 114942347 114942347 single base substitution G A downstream_gene_variant PBCA-DE 1 114942347 114942347 single base substitution G A intron_variant PBCA-DE 1 114942347 114942347 single base substitution G A upstream_gene_variant PBCA-DE 1 114951459 114951459 deletion of <=200bp A - intron_variant PBCA-DE 1 114951459 114951459 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 114953838 114953838 insertion of <=200bp - T intron_variant PBCA-DE 1 114953838 114953838 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 114963946 114963969 deletion of <=200bp AATTTCAAGGAAATGTTGATCCTG - intron_variant PBCA-DE 1 114968232 114968232 single base substitution C T missense_variant A120T 358G>A PBCA-DE 1 114968232 114968232 single base substitution C T missense_variant A248T 742G>A PBCA-DE 1 114968232 114968232 single base substitution C T missense_variant A512T 1534G>A PBCA-DE 1 114973506 114973506 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 1 114973506 114973506 single base substitution G A stop_gained R357* 1069C>T PBCA-DE 1 114973506 114973506 single base substitution G A stop_gained R93* 277C>T PBCA-DE 1 114977130 114977130 single base substitution A G intron_variant PBCA-DE 1 114978528 114978528 deletion of <=200bp A - intron_variant PBCA-DE 1 114984517 114984517 single base substitution C T intron_variant PBCA-DE 1 114997296 114997296 insertion of <=200bp - A intron_variant PBCA-DE 1 115007117 115007117 single base substitution G T intron_variant PBCA-DE 1 115007117 115007117 single base substitution G T upstream_gene_variant PBCA-DE 1 115022424 115022424 single base substitution A G intron_variant PBCA-DE 1 115022428 115022428 single base substitution A G intron_variant PBCA-DE 1 115022430 115022430 single base substitution C G intron_variant PBCA-DE 1 115026039 115026039 insertion of <=200bp - T intron_variant PBCA-DE 1 115032386 115032386 insertion of <=200bp - A intron_variant PBCA-DE 1 115039596 115039596 single base substitution C T intron_variant PBCA-DE 1 115041254 115041254 insertion of <=200bp - A intron_variant PBCA-DE 1 115044535 115044535 single base substitution T C intron_variant PBCA-DE 1 115046056 115046056 single base substitution C T intron_variant PRAD-CA 1 114933394 114933394 single base substitution C T downstream_gene_variant PRAD-CA 1 114940228 114940228 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 114940228 114940228 single base substitution C T downstream_gene_variant PRAD-CA 1 114940228 114940228 single base substitution C T intron_variant PRAD-CA 1 114943665 114943665 single base substitution C T downstream_gene_variant PRAD-CA 1 114943665 114943665 single base substitution C T intron_variant PRAD-CA 1 114943665 114943665 single base substitution C T upstream_gene_variant PRAD-CA 1 114985337 114985337 single base substitution G A intron_variant PRAD-CA 1 115012360 115012360 single base substitution G A intron_variant PRAD-CA 1 115024805 115024805 single base substitution C T intron_variant PRAD-CA 1 115031325 115031325 single base substitution C G intron_variant PRAD-CA 1 115032389 115032389 single base substitution A T intron_variant PRAD-UK 1 114931900 114931900 single base substitution A C downstream_gene_variant PRAD-UK 1 114936942 114936942 single base substitution T G 3_prime_UTR_variant PRAD-UK 1 114936942 114936942 single base substitution T G downstream_gene_variant PRAD-UK 1 114939089 114939089 single base substitution A G 3_prime_UTR_variant PRAD-UK 1 114939089 114939089 single base substitution A G downstream_gene_variant PRAD-UK 1 114939089 114939089 single base substitution A G exon_variant PRAD-UK 1 114942305 114942305 single base substitution T C downstream_gene_variant PRAD-UK 1 114942305 114942305 single base substitution T C intron_variant PRAD-UK 1 114942305 114942305 single base substitution T C upstream_gene_variant PRAD-UK 1 114955457 114955457 single base substitution A T intron_variant PRAD-UK 1 114985960 114985960 single base substitution C G intron_variant PRAD-UK 1 114992615 114992615 single base substitution A C intron_variant PRAD-UK 1 115009864 115009864 single base substitution G A intron_variant PRAD-UK 1 115009864 115009864 single base substitution G A upstream_gene_variant PRAD-UK 1 115018100 115018100 single base substitution G T intron_variant PRAD-UK 1 115022740 115022740 deletion of <=200bp T - intron_variant PRAD-UK 1 115023029 115023031 deletion of <=200bp CTT - intron_variant PRAD-UK 1 115029288 115029288 insertion of <=200bp - AAAAG intron_variant PRAD-UK 1 115054440 115054442 deletion of <=200bp GGA - upstream_gene_variant PRAD-UK 1 115057962 115057962 single base substitution T A upstream_gene_variant PRAD-US 1 114942114 114942114 single base substitution G A downstream_gene_variant PRAD-US 1 114942114 114942114 single base substitution G A exon_variant PRAD-US 1 114942114 114942114 single base substitution G A missense_variant R1029C 3085C>T PRAD-US 1 114942114 114942114 single base substitution G A missense_variant R661C 1981C>T PRAD-US 1 114942114 114942114 single base substitution G A missense_variant R789C 2365C>T PRAD-US 1 114942114 114942114 single base substitution G A upstream_gene_variant PRAD-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T158 PRAD-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T286 PRAD-US 1 114968116 114968118 deletion of <=200bp TGT - inframe_deletion T550 PRAD-US 1 115005788 115005788 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 1 115005788 115005788 single base substitution G A synonymous_variant F23F 69C>T PRAD-US 1 115005788 115005788 single base substitution G A synonymous_variant F287F 861C>T READ-US 1 114944078 114944078 single base substitution T C downstream_gene_variant READ-US 1 114944078 114944078 single base substitution T C missense_variant E599G 1796A>G READ-US 1 114944078 114944078 single base substitution T C missense_variant E727G 2180A>G READ-US 1 114944078 114944078 single base substitution T C missense_variant E967G 2900A>G READ-US 1 114944078 114944078 single base substitution T C upstream_gene_variant RECA-EU 1 114930408 114930408 single base substitution T A downstream_gene_variant RECA-EU 1 114934880 114934880 single base substitution C A downstream_gene_variant RECA-EU 1 114946819 114946819 single base substitution C T downstream_gene_variant RECA-EU 1 114946819 114946819 single base substitution C T intron_variant RECA-EU 1 114946819 114946819 single base substitution C T upstream_gene_variant RECA-EU 1 114950185 114950185 single base substitution A G intron_variant RECA-EU 1 114950185 114950185 single base substitution A G upstream_gene_variant RECA-EU 1 114951426 114951426 single base substitution G A intron_variant RECA-EU 1 114951426 114951426 single base substitution G A upstream_gene_variant RECA-EU 1 114957777 114957777 single base substitution C T intron_variant RECA-EU 1 114964537 114964537 single base substitution T C intron_variant RECA-EU 1 114965054 114965054 single base substitution T A intron_variant RECA-EU 1 114997163 114997163 single base substitution C A intron_variant RECA-EU 1 114999394 114999394 single base substitution T G intron_variant RECA-EU 1 115016034 115016034 single base substitution T A intron_variant RECA-EU 1 115025508 115025508 single base substitution G C intron_variant RECA-EU 1 115044782 115044782 single base substitution A T intron_variant RECA-EU 1 115057454 115057454 single base substitution A T upstream_gene_variant SKCA-BR 1 114930581 114930582 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 114930582 114930582 insertion of <=200bp - ATATATT downstream_gene_variant SKCA-BR 1 114930584 114930584 single base substitution T A downstream_gene_variant SKCA-BR 1 114930836 114930836 single base substitution G A downstream_gene_variant SKCA-BR 1 114936579 114936579 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 114936579 114936579 single base substitution G A downstream_gene_variant SKCA-BR 1 114938250 114938250 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 114938250 114938250 single base substitution G A downstream_gene_variant SKCA-BR 1 114940209 114940209 single base substitution G T 3_prime_UTR_variant SKCA-BR 1 114940209 114940209 single base substitution G T downstream_gene_variant SKCA-BR 1 114940209 114940209 single base substitution G T intron_variant SKCA-BR 1 114942768 114942768 single base substitution G A downstream_gene_variant SKCA-BR 1 114942768 114942768 single base substitution G A intron_variant SKCA-BR 1 114942768 114942768 single base substitution G A upstream_gene_variant SKCA-BR 1 114945824 114945824 single base substitution C T downstream_gene_variant SKCA-BR 1 114945824 114945824 single base substitution C T intron_variant SKCA-BR 1 114945824 114945824 single base substitution C T upstream_gene_variant SKCA-BR 1 114960364 114960365 deletion of <=200bp TC - intron_variant SKCA-BR 1 114961014 114961014 single base substitution G A intron_variant SKCA-BR 1 114961623 114961623 single base substitution A C intron_variant SKCA-BR 1 114961868 114961868 single base substitution G A intron_variant SKCA-BR 1 114963084 114963084 single base substitution T G intron_variant SKCA-BR 1 114969144 114969145 deletion of <=200bp TA - intron_variant SKCA-BR 1 114978607 114978607 single base substitution G A intron_variant SKCA-BR 1 114985309 114985310 deletion of <=200bp CA - intron_variant SKCA-BR 1 114985337 114985337 single base substitution G A intron_variant SKCA-BR 1 114990807 114990807 single base substitution G A intron_variant SKCA-BR 1 114993572 114993572 single base substitution A G intron_variant SKCA-BR 1 114993996 114993996 insertion of <=200bp - TAA intron_variant SKCA-BR 1 114996085 114996085 single base substitution G A intron_variant SKCA-BR 1 115003837 115003837 insertion of <=200bp - AAT intron_variant SKCA-BR 1 115004054 115004054 single base substitution C T intron_variant SKCA-BR 1 115006226 115006226 single base substitution G A intron_variant SKCA-BR 1 115006226 115006226 single base substitution G A upstream_gene_variant SKCA-BR 1 115008064 115008064 single base substitution G A intron_variant SKCA-BR 1 115008064 115008064 single base substitution G A upstream_gene_variant SKCA-BR 1 115010449 115010449 single base substitution T C intron_variant SKCA-BR 1 115010449 115010449 single base substitution T C upstream_gene_variant SKCA-BR 1 115012551 115012551 single base substitution T C intron_variant SKCA-BR 1 115015878 115015878 insertion of <=200bp - CA intron_variant SKCA-BR 1 115021025 115021025 single base substitution C T intron_variant SKCA-BR 1 115022667 115022667 single base substitution A G intron_variant SKCA-BR 1 115023120 115023123 deletion of <=200bp AGTG - intron_variant SKCA-BR 1 115024251 115024251 insertion of <=200bp - CTA intron_variant SKCA-BR 1 115024261 115024261 insertion of <=200bp - ATATGTGTG intron_variant SKCA-BR 1 115024261 115024261 insertion of <=200bp - ATG intron_variant SKCA-BR 1 115029168 115029168 insertion of <=200bp - CA intron_variant SKCA-BR 1 115029980 115029980 single base substitution C A intron_variant SKCA-BR 1 115033612 115033612 single base substitution C T intron_variant SKCA-BR 1 115036321 115036321 single base substitution G A intron_variant SKCA-BR 1 115036737 115036737 single base substitution A C intron_variant SKCA-BR 1 115037133 115037133 single base substitution T A intron_variant SKCA-BR 1 115040083 115040083 single base substitution G A intron_variant SKCA-BR 1 115040748 115040748 insertion of <=200bp - CAA intron_variant SKCA-BR 1 115043599 115043599 single base substitution T G intron_variant SKCA-BR 1 115047588 115047588 single base substitution G A intron_variant SKCA-BR 1 115049797 115049797 single base substitution T C intron_variant SKCA-BR 1 115050725 115050725 single base substitution G A intron_variant SKCA-BR 1 115054172 115054172 single base substitution A C upstream_gene_variant SKCA-BR 1 115056347 115056347 single base substitution C T upstream_gene_variant SKCA-BR 1 115058563 115058563 single base substitution C T upstream_gene_variant SKCM-US 1 114940389 114940389 single base substitution A G exon_variant SKCM-US 1 114940389 114940389 single base substitution A G synonymous_variant L1072L 3214T>C SKCM-US 1 114940389 114940389 single base substitution A G synonymous_variant L1089L 3265T>C SKCM-US 1 114940389 114940389 single base substitution A G synonymous_variant L721L 2161T>C SKCM-US 1 114940389 114940389 single base substitution A G synonymous_variant L849L 2545T>C SKCM-US 1 114942115 114942115 single base substitution G A downstream_gene_variant SKCM-US 1 114942115 114942115 single base substitution G A exon_variant SKCM-US 1 114942115 114942115 single base substitution G A synonymous_variant V1028V 3084C>T SKCM-US 1 114942115 114942115 single base substitution G A synonymous_variant V660V 1980C>T SKCM-US 1 114942115 114942115 single base substitution G A synonymous_variant V788V 2364C>T SKCM-US 1 114942115 114942115 single base substitution G A upstream_gene_variant SKCM-US 1 114952902 114952902 single base substitution G A synonymous_variant L332L 994C>T SKCM-US 1 114952902 114952902 single base substitution G A synonymous_variant L460L 1378C>T SKCM-US 1 114952902 114952902 single base substitution G A synonymous_variant L700L 2098C>T SKCM-US 1 114952902 114952902 single base substitution G A upstream_gene_variant SKCM-US 1 114964156 114964156 single base substitution G C missense_variant R263G 787C>G SKCM-US 1 114964156 114964156 single base substitution G C missense_variant R391G 1171C>G SKCM-US 1 114964156 114964156 single base substitution G C missense_variant R655G 1963C>G SKCM-US 1 114964187 114964187 single base substitution G A synonymous_variant S252S 756C>T SKCM-US 1 114964187 114964187 single base substitution G A synonymous_variant S380S 1140C>T SKCM-US 1 114964187 114964187 single base substitution G A synonymous_variant S644S 1932C>T SKCM-US 1 114973461 114973461 single base substitution C A 5_prime_UTR_variant SKCM-US 1 114973461 114973461 single base substitution C A stop_gained E108* 322G>T SKCM-US 1 114973461 114973461 single base substitution C A stop_gained E372* 1114G>T SKCM-US 1 115006056 115006056 single base substitution G A synonymous_variant I256I 768C>T SKCM-US 1 115006056 115006056 single base substitution G A upstream_gene_variant STAD-US 1 114940396 114940396 single base substitution G A exon_variant STAD-US 1 114940396 114940396 single base substitution G A synonymous_variant F1069F 3207C>T STAD-US 1 114940396 114940396 single base substitution G A synonymous_variant F1086F 3258C>T STAD-US 1 114940396 114940396 single base substitution G A synonymous_variant F718F 2154C>T STAD-US 1 114940396 114940396 single base substitution G A synonymous_variant F846F 2538C>T STAD-US 1 114940422 114940422 single base substitution T C exon_variant STAD-US 1 114940422 114940422 single base substitution T C missense_variant T1061A 3181A>G STAD-US 1 114940422 114940422 single base substitution T C missense_variant T1078A 3232A>G STAD-US 1 114940422 114940422 single base substitution T C missense_variant T710A 2128A>G STAD-US 1 114940422 114940422 single base substitution T C missense_variant T838A 2512A>G STAD-US 1 114940429 114940429 single base substitution A G exon_variant STAD-US 1 114940429 114940429 single base substitution A G synonymous_variant D1058D 3174T>C STAD-US 1 114940429 114940429 single base substitution A G synonymous_variant D1075D 3225T>C STAD-US 1 114940429 114940429 single base substitution A G synonymous_variant D707D 2121T>C STAD-US 1 114940429 114940429 single base substitution A G synonymous_variant D835D 2505T>C STAD-US 1 114948108 114948110 deletion of <=200bp CTC - disruptive_inframe_deletion GD529D STAD-US 1 114948108 114948110 deletion of <=200bp CTC - disruptive_inframe_deletion GD657D STAD-US 1 114948108 114948110 deletion of <=200bp CTC - disruptive_inframe_deletion GD897D STAD-US 1 114948108 114948110 deletion of <=200bp CTC - exon_variant STAD-US 1 114952816 114952816 single base substitution C A synonymous_variant P360P 1080G>T STAD-US 1 114952816 114952816 single base substitution C A synonymous_variant P488P 1464G>T STAD-US 1 114952816 114952816 single base substitution C A synonymous_variant P728P 2184G>T STAD-US 1 114952816 114952816 single base substitution C A upstream_gene_variant STAD-US 1 114964188 114964188 single base substitution C T missense_variant S252N 755G>A STAD-US 1 114964188 114964188 single base substitution C T missense_variant S380N 1139G>A STAD-US 1 114964188 114964188 single base substitution C T missense_variant S644N 1931G>A STAD-US 1 114967378 114967378 single base substitution C T splice_acceptor_variant STAD-US 1 114968300 114968300 single base substitution T A missense_variant N225I 674A>T STAD-US 1 114968300 114968300 single base substitution T A missense_variant N489I 1466A>T STAD-US 1 114968300 114968300 single base substitution T A missense_variant N97I 290A>T STAD-US 1 114969847 114969847 single base substitution G A missense_variant R194C 580C>T STAD-US 1 114969847 114969847 single base substitution G A missense_variant R458C 1372C>T STAD-US 1 114969847 114969847 single base substitution G A missense_variant R66C 196C>T STAD-US 1 114969882 114969882 single base substitution C T missense_variant R182Q 545G>A STAD-US 1 114969882 114969882 single base substitution C T missense_variant R446Q 1337G>A STAD-US 1 114969882 114969882 single base substitution C T missense_variant R54Q 161G>A STAD-US 1 114973432 114973432 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 114973432 114973432 single base substitution T C synonymous_variant L117L 351A>G STAD-US 1 114973432 114973432 single base substitution T C synonymous_variant L381L 1143A>G STAD-US 1 114976274 114976274 single base substitution A C 5_prime_UTR_variant STAD-US 1 114976274 114976274 single base substitution A C missense_variant N335K 1005T>G STAD-US 1 114976274 114976274 single base substitution A C missense_variant N71K 213T>G STAD-US 1 114976275 114976277 deletion of <=200bp TTC - 5_prime_UTR_variant STAD-US 1 114976275 114976277 deletion of <=200bp TTC - disruptive_inframe_deletion KN334N STAD-US 1 114976275 114976277 deletion of <=200bp TTC - disruptive_inframe_deletion KN70N STAD-US 1 115006983 115006983 single base substitution C T missense_variant R185H 554G>A STAD-US 1 115006983 115006983 single base substitution C T upstream_gene_variant STAD-US 1 115006998 115006998 single base substitution C T missense_variant R180Q 539G>A STAD-US 1 115006998 115006998 single base substitution C T upstream_gene_variant UCEC-US 1 114940332 114940332 single base substitution C A exon_variant UCEC-US 1 114940332 114940332 single base substitution C A intron_variant UCEC-US 1 114940332 114940332 single base substitution C A missense_variant D1091Y 3271G>T UCEC-US 1 114940332 114940332 single base substitution C A missense_variant D1108Y 3322G>T UCEC-US 1 114940332 114940332 single base substitution C A missense_variant D740Y 2218G>T UCEC-US 1 114940332 114940332 single base substitution C A missense_variant D868Y 2602G>T UCEC-US 1 114940373 114940373 single base substitution T C exon_variant UCEC-US 1 114940373 114940373 single base substitution T C missense_variant Q1077R 3230A>G UCEC-US 1 114940373 114940373 single base substitution T C missense_variant Q1094R 3281A>G UCEC-US 1 114940373 114940373 single base substitution T C missense_variant Q726R 2177A>G UCEC-US 1 114940373 114940373 single base substitution T C missense_variant Q854R 2561A>G UCEC-US 1 114940421 114940421 single base substitution G A exon_variant UCEC-US 1 114940421 114940421 single base substitution G A missense_variant T1061I 3182C>T UCEC-US 1 114940421 114940421 single base substitution G A missense_variant T1078I 3233C>T UCEC-US 1 114940421 114940421 single base substitution G A missense_variant T710I 2129C>T UCEC-US 1 114940421 114940421 single base substitution G A missense_variant T838I 2513C>T UCEC-US 1 114942100 114942100 single base substitution C A downstream_gene_variant UCEC-US 1 114942100 114942100 single base substitution C A exon_variant UCEC-US 1 114942100 114942100 single base substitution C A missense_variant K1033N 3099G>T UCEC-US 1 114942100 114942100 single base substitution C A missense_variant K665N 1995G>T UCEC-US 1 114942100 114942100 single base substitution C A missense_variant K793N 2379G>T UCEC-US 1 114942100 114942100 single base substitution C A upstream_gene_variant UCEC-US 1 114942183 114942183 single base substitution C T downstream_gene_variant UCEC-US 1 114942183 114942183 single base substitution C T exon_variant UCEC-US 1 114942183 114942183 single base substitution C T missense_variant V1006M 3016G>A UCEC-US 1 114942183 114942183 single base substitution C T missense_variant V638M 1912G>A UCEC-US 1 114942183 114942183 single base substitution C T missense_variant V766M 2296G>A UCEC-US 1 114942183 114942183 single base substitution C T upstream_gene_variant UCEC-US 1 114944012 114944012 single base substitution G A downstream_gene_variant UCEC-US 1 114944012 114944012 single base substitution G A missense_variant S621L 1862C>T UCEC-US 1 114944012 114944012 single base substitution G A missense_variant S749L 2246C>T UCEC-US 1 114944012 114944012 single base substitution G A missense_variant S989L 2966C>T UCEC-US 1 114944012 114944012 single base substitution G A upstream_gene_variant UCEC-US 1 114944075 114944075 single base substitution C T downstream_gene_variant UCEC-US 1 114944075 114944075 single base substitution C T missense_variant R600H 1799G>A UCEC-US 1 114944075 114944075 single base substitution C T missense_variant R728H 2183G>A UCEC-US 1 114944075 114944075 single base substitution C T missense_variant R968H 2903G>A UCEC-US 1 114944075 114944075 single base substitution C T upstream_gene_variant UCEC-US 1 114945409 114945409 single base substitution C T downstream_gene_variant UCEC-US 1 114945409 114945409 single base substitution C T synonymous_variant A587A 1761G>A UCEC-US 1 114945409 114945409 single base substitution C T synonymous_variant A715A 2145G>A UCEC-US 1 114945409 114945409 single base substitution C T synonymous_variant A955A 2865G>A UCEC-US 1 114945409 114945409 single base substitution C T upstream_gene_variant UCEC-US 1 114945456 114945456 single base substitution C A downstream_gene_variant UCEC-US 1 114945456 114945456 single base substitution C A stop_gained E572* 1714G>T UCEC-US 1 114945456 114945456 single base substitution C A stop_gained E700* 2098G>T UCEC-US 1 114945456 114945456 single base substitution C A stop_gained E940* 2818G>T UCEC-US 1 114945456 114945456 single base substitution C A upstream_gene_variant UCEC-US 1 114945458 114945458 single base substitution A T downstream_gene_variant UCEC-US 1 114945458 114945458 single base substitution A T missense_variant V571D 1712T>A UCEC-US 1 114945458 114945458 single base substitution A T missense_variant V699D 2096T>A UCEC-US 1 114945458 114945458 single base substitution A T missense_variant V939D 2816T>A UCEC-US 1 114945458 114945458 single base substitution A T upstream_gene_variant UCEC-US 1 114948090 114948090 single base substitution T G exon_variant UCEC-US 1 114948090 114948090 single base substitution T G missense_variant K536Q 1606A>C UCEC-US 1 114948090 114948090 single base substitution T G missense_variant K664Q 1990A>C UCEC-US 1 114948090 114948090 single base substitution T G missense_variant K904Q 2710A>C UCEC-US 1 114948195 114948195 single base substitution G A exon_variant UCEC-US 1 114948195 114948195 single base substitution G A missense_variant H501Y 1501C>T UCEC-US 1 114948195 114948195 single base substitution G A missense_variant H629Y 1885C>T UCEC-US 1 114948195 114948195 single base substitution G A missense_variant H869Y 2605C>T UCEC-US 1 114948207 114948207 single base substitution G A exon_variant UCEC-US 1 114948207 114948207 single base substitution G A stop_gained R497* 1489C>T UCEC-US 1 114948207 114948207 single base substitution G A stop_gained R625* 1873C>T UCEC-US 1 114948207 114948207 single base substitution G A stop_gained R865* 2593C>T UCEC-US 1 114952919 114952919 single base substitution C T missense_variant S326N 977G>A UCEC-US 1 114952919 114952919 single base substitution C T missense_variant S454N 1361G>A UCEC-US 1 114952919 114952919 single base substitution C T missense_variant S694N 2081G>A UCEC-US 1 114952919 114952919 single base substitution C T upstream_gene_variant UCEC-US 1 114964082 114964082 single base substitution C T synonymous_variant S287S 861G>A UCEC-US 1 114964082 114964082 single base substitution C T synonymous_variant S415S 1245G>A UCEC-US 1 114964082 114964082 single base substitution C T synonymous_variant S679S 2037G>A UCEC-US 1 114964249 114964249 single base substitution G A missense_variant P232S 694C>T UCEC-US 1 114964249 114964249 single base substitution G A missense_variant P360S 1078C>T UCEC-US 1 114964249 114964249 single base substitution G A missense_variant P624S 1870C>T UCEC-US 1 114970387 114970387 single base substitution G A synonymous_variant L165L 493C>T UCEC-US 1 114970387 114970387 single base substitution G A synonymous_variant L37L 109C>T UCEC-US 1 114970387 114970387 single base substitution G A synonymous_variant L429L 1285C>T UCEC-US 1 114970500 114970500 single base substitution C A 5_prime_UTR_variant UCEC-US 1 114970500 114970500 single base substitution C A missense_variant R127I 380G>T UCEC-US 1 114970500 114970500 single base substitution C A missense_variant R391I 1172G>T UCEC-US 1 114973522 114973522 single base substitution T C 5_prime_UTR_variant UCEC-US 1 114973522 114973522 single base substitution T C synonymous_variant V351V 1053A>G UCEC-US 1 114973522 114973522 single base substitution T C synonymous_variant V87V 261A>G UCEC-US 1 114976295 114976295 single base substitution C T 5_prime_UTR_variant UCEC-US 1 114976295 114976295 single base substitution C T synonymous_variant A328A 984G>A UCEC-US 1 114976295 114976295 single base substitution C T synonymous_variant A64A 192G>A UCEC-US 1 115005829 115005829 single base substitution C T 5_prime_UTR_variant UCEC-US 1 115005829 115005829 single base substitution C T missense_variant V10I 28G>A UCEC-US 1 115005829 115005829 single base substitution C T missense_variant V274I 820G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ME009T COSM222542 c.847C>T p.Q283* Substitution - Nonsense 1:114463180-114463180 - TCGA-DK-A3WW-01 COSM3788468 c.949C>G p.Q317E Substitution - Missense 1:114433708-114433708 - LUAD-NYU201 COSM371222 c.760C>G p.H254D Substitution - Missense 1:114463442-114463442 - SC_9008 COSM5562857 c.2129C>T p.P710L Substitution - Missense 1:114410249-114410249 - SH-7032 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - 7T COSM5575608 c.1231C>T p.H411Y Substitution - Missense 1:114427819-114427819 - TCGA-AG-A00H-01 COSM265245 c.809G>C p.G270A Substitution - Missense 1:114463218-114463218 - TCGA-A3-3316-01 COSM1491617 c.2419-2A>T p.? Unknown 1:114405761-114405761 - NCI-H2009 COSM12939 c.2431G>A p.E811K Substitution - Missense 1:114405747-114405747 - PD1487a COSM13373 c.2653C>T p.P885S Substitution - Missense 1:114405525-114405525 - SH-1679 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-GM-A2D9-01 COSM3801348 c.3190C>T p.Q1064* Substitution - Nonsense 1:114397842-114397842 - TCGA-26-5135-01 COSM2157079 c.1319G>A p.R440H Substitution - Missense 1:114427278-114427278 - TCGA-D3-A2JH-06 COSM3471576 c.1963C>G p.R655G Substitution - Missense 1:114421534-114421534 - C058 COSM5525720 c.2158T>A p.S720T Substitution - Missense 1:114410220-114410220 - SH-1439 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-BR-8680-01 COSM4020873 c.554G>A p.R185H Substitution - Missense 1:114464361-114464361 - SH-1641 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - HCC157T COSM3704849 c.2927A>G p.H976R Substitution - Missense 1:114401429-114401429 - H2009 COSM12939 c.2431G>A p.E811K Substitution - Missense 1:114405747-114405747 - KM12 COSM2177183 c.2579G>A p.G860E Substitution - Missense 1:114405599-114405599 - AD13 COSM5966210 c.2128C>T p.P710S Substitution - Missense 1:114410250-114410250 - T3503 COSM1332873 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - T368 COSM4736044 c.2455_2456delTC p.S819fs*8 Deletion - Frameshift 1:114405722-114405723 - TCGA-D7-6518-01 COSM2177142 c.3258C>T p.F1086F Substitution - coding silent 1:114397774-114397774 - cSCCP1 COSM133957 c.815G>A p.R272H Substitution - Missense 1:114463212-114463212 - TCGA-AR-A255-01 COSM4813645 c.2923T>C p.C975R Substitution - Missense 1:114401433-114401433 - SH-7166 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - AOCS-139-19-0 COSM4004714 c.1028A>C p.Q343P Substitution - Missense 1:114433629-114433629 - RK064_C01 COSM4944477 c.2074G>T p.G692C Substitution - Missense 1:114410304-114410304 - TCGA-DW-7840-01 COSM3984111 c.1887C>G p.P629P Substitution - coding silent 1:114421610-114421610 - CSCC-62-T COSM4486391 c.3046C>A p.Q1016K Substitution - Missense 1:114399531-114399531 - TCGA-18-3416-01 COSM4859021 c.2412T>G p.A804A Substitution - coding silent 1:114406947-114406947 - TCGA-CA-6717-01 COSM3687034 c.1029G>A p.Q343Q Substitution - coding silent 1:114433628-114433628 - TCGA-22-1016-01 COSM674238 c.1364G>C p.G455A Substitution - Missense 1:114427233-114427233 - S01366 COSM5667895 c.120G>T p.A40A Substitution - coding silent 1:114510957-114510957 - LS411 COSM2177238 c.1421G>A p.G474D Substitution - Missense 1:114425723-114425723 - TCGA-BR-4368-01 COSM4020868 c.1337G>A p.R446Q Substitution - Missense 1:114427260-114427260 - TCGA-BS-A0UV-01 COSM894173 c.2966C>T p.S989L Substitution - Missense 1:114401390-114401390 - MINO COSM894173 c.2966C>T p.S989L Substitution - Missense 1:114401390-114401390 - Pat_41_B COSM5843124 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - TCGA-CM-6171-01 COSM1332871 c.2981A>G p.Y994C Substitution - Missense 1:114399596-114399596 - TCGA-22-5473-01 COSM674236 c.1218C>T p.S406S Substitution - coding silent 1:114427832-114427832 - HCC035T COSM4736040 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - TCGA-CU-A3YL-01 COSM3788465 c.3121A>G p.M1041V Substitution - Missense 1:114397990-114397990 - pfg181T COSM4760394 c.701G>A p.G234E Substitution - Missense 1:114463501-114463501 - TCGA-AA-3510-01 COSM4868459 c.984G>A p.A328A Substitution - coding silent 1:114433673-114433673 - Pat_41_A COSM5843124 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - PD9760a COSM5789662 c.3337C>T p.R1113C Substitution - Missense 1:114397695-114397695 - TCGA-BR-6452-01 COSM4020870 c.1143A>G p.L381L Substitution - coding silent 1:114430810-114430810 - LPJ023 COSM1315894 c.1675C>A p.P559T Substitution - Missense 1:114425469-114425469 - TCGA-AZ-6598-01 COSM4784712 c.1035G>A p.Q345Q Substitution - coding silent 1:114433622-114433622 - MD-090 COSM303449 c.2958delT p.P987fs*11 Deletion - Frameshift 1:114401398-114401398 - TCGA-AK-3427-01 COSM1491616 c.1635T>A p.T545T Substitution - coding silent 1:114425509-114425509 - RK170_C01 COSM1626325 c.868A>C p.T290P Substitution - Missense 1:114463159-114463159 - LIM1215 COSM4639322 c.982G>T p.A328S Substitution - Missense 1:114433675-114433675 - SH-3327 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - T3094 COSM4736056 c.1631C>A p.P544Q Substitution - Missense 1:114425513-114425513 - TCGA-D3-A2JH-06 COSM3471577 c.1963C>G p.R655G Substitution - Missense 1:114421534-114421534 - 2205 COSM5016739 c.3160_3161insA p.I1054fs*2 Insertion - Frameshift 1:114397950-114397951 - PD4937a COSM165131 c.1329G>C p.L443F Substitution - Missense 1:114427268-114427268 - TCGA-GM-A3NW-01 COSM3801355 c.570G>T p.Q190H Substitution - Missense 1:114464345-114464345 - PD4937a COSM4810331 c.1329G>C p.L443F Substitution - Missense 1:114427268-114427268 - LUAD-YINHD COSM392615 c.1650_1651insA p.Q551fs*5 Insertion - Frameshift 1:114425493-114425494 - C086 COSM5540809 c.1625C>T p.P542L Substitution - Missense 1:114425519-114425519 - TCGA-06-0214-01 COSM1559266 c.1887C>A p.P629P Substitution - coding silent 1:114421610-114421610 - TCGA-CA-6717-01 COSM3687035 c.1029G>A p.Q343Q Substitution - coding silent 1:114433628-114433628 - T3174 COSM4736048 c.2132delC p.P711fs*7 Deletion - Frameshift 1:114410246-114410246 - NCI-H2009 COSM12939 c.2431G>A p.E811K Substitution - Missense 1:114405747-114405747 - PD1489a COSM13372 c.1740G>A p.M580I Substitution - Missense 1:114424711-114424711 - SH-1679 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - TCGA-AO-A128-01 COSM3801353 c.1338G>A p.R446R Substitution - coding silent 1:114427259-114427259 - 041T COSM1728870 c.493A>T p.I165F Substitution - Missense 1:114510584-114510584 - TCGA-EE-A29X-06 COSM3471569 c.3265T>C p.L1089L Substitution - coding silent 1:114397767-114397767 - TCGA-D1-A160-01 COSM3984110 c.2605C>T p.H869Y Substitution - Missense 1:114405573-114405573 - 1N30-VS-1T30 COSM2177141 c.3258C>T p.F1086F Substitution - coding silent 1:114397774-114397774 - CSCC-27-T COSM4565350 c.2005_2006CC>TT p.P669F Substitution - Missense 1:114421491-114421492 - U2940 COSM5622045 c.2201C>T p.S734F Substitution - Missense 1:114408734-114408734 - TCGA-06-0173-01 COSM1559266 c.1887C>A p.P629P Substitution - coding silent 1:114421610-114421610 - SW1222 COSM4654658 c.1842G>A p.Q614Q Substitution - coding silent 1:114424609-114424609 - TCGA-D1-A176-01 COSM4876160 c.1870C>T p.P624S Substitution - Missense 1:114421627-114421627 - SH-0348 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - LUAD-B01811 COSM334171 c.2902C>G p.R968G Substitution - Missense 1:114401454-114401454 - TCGA-D1-A17M-01 COSM894172 c.3016G>A p.V1006M Substitution - Missense 1:114399561-114399561 - CHC303T COSM4957871 c.1417T>G p.L473V Substitution - Missense 1:114427180-114427180 - TCGA-EA-A78R-01 COSM4852043 c.1612C>A p.Q538K Substitution - Missense 1:114425532-114425532 - TCGA-D1-A16X-01 COSM894187 c.1053A>G p.V351V Substitution - coding silent 1:114430900-114430900 - TCGA-EE-A2GI-06 COSM3471580 c.1114G>T p.E372* Substitution - Nonsense 1:114430839-114430839 - Pat_65_A COSM5843124 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - 011T COSM1727638 c.1384G>A p.D462N Substitution - Missense 1:114427213-114427213 - TCGA-22-1016-01 COSM4860039 c.1364G>C p.G455A Substitution - Missense 1:114427233-114427233 - Gp2D COSM2177186 c.2554T>A p.S852T Substitution - Missense 1:114405624-114405624 - sysucc-311T COSM285940 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - T578 COSM4736059 c.1239G>T p.M413I Substitution - Missense 1:114427811-114427811 - AD13 COSM5966209 c.2128C>T p.P710S Substitution - Missense 1:114410250-114410250 - TCGA-D1-A15X-01 COSM4872007 c.3281A>G p.Q1094R Substitution - Missense 1:114397751-114397751 - TCGA-EK-A2PG-01 COSM4819242 c.3363G>C p.E1121D Substitution - Missense 1:114397669-114397669 - C058 COSM5525719 c.2158T>A p.S720T Substitution - Missense 1:114410220-114410220 - RK156_C01 COSM3700458 c.2988T>C p.I996I Substitution - coding silent 1:114399589-114399589 - KPOPBR-03-T COSM5965725 c.3235G>A p.E1079K Substitution - Missense 1:114397797-114397797 - TCGA-26-5135 COSM2157078 c.1319G>A p.R440H Substitution - Missense 1:114427278-114427278 - SH-0348 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - SH-2871 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - T3225 COSM4736037 c.2986delA p.I996fs*2 Deletion - Frameshift 1:114399591-114399591 - TCGA-24-1604-01 COSM78697 c.1807C>T p.P603S Substitution - Missense 1:114424644-114424644 - C135 COSM4610891 c.1650_1651insACA p.T550_Q551insT Insertion - In frame 1:114425493-114425494 - RK308_C01 COSM3740551 c.2689G>T p.G897* Substitution - Nonsense 1:114405489-114405489 - LS411 COSM2177239 c.1421G>A p.G474D Substitution - Missense 1:114425723-114425723 - HCC64 COSM1600584 c.915A>G p.K305K Substitution - coding silent 1:114463112-114463112 - 2205 COSM5016740 c.3160_3161insA p.I1054fs*2 Insertion - Frameshift 1:114397950-114397951 - ESO-K08 COSM1268530 c.2676C>G p.V892V Substitution - coding silent 1:114405502-114405502 - TCGA-CM-6171-01 COSM4784385 c.2981A>G p.Y994C Substitution - Missense 1:114399596-114399596 - 587376 COSM285940 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - TCGA-G4-6302-01 COSM3688904 c.2896T>C p.C966R Substitution - Missense 1:114401460-114401460 - STC252 COSM5052408 c.1819G>A p.G607S Substitution - Missense 1:114424632-114424632 - CSCC-27-T COSM4565351 c.2005_2006CC>TT p.P669F Substitution - Missense 1:114421491-114421492 - T3225 COSM4736038 c.2986delA p.I996fs*2 Deletion - Frameshift 1:114399591-114399591 - T578 COSM4736060 c.1239G>T p.M413I Substitution - Missense 1:114427811-114427811 - SH-3133 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-BR-8680-01 COSM4020871 c.1005T>G p.N335K Substitution - Missense 1:114433652-114433652 - 127T COSM5575965 c.817C>A p.P273T Substitution - Missense 1:114463210-114463210 - TCGA-06-0122-01 COSM1559268 c.157G>T p.A53S Substitution - Missense 1:114510920-114510920 - LP6005690-DNA_A02 COSM4410459 c.1041-8T>G p.? Unknown 1:114430920-114430920 - CSCC-30-T COSM4538012 c.2493G>A p.L831L Substitution - coding silent 1:114405685-114405685 - LP6005690-DNA_A02 COSM4410460 c.1041-8T>G p.? Unknown 1:114430920-114430920 - HCC116T COSM3704855 c.267T>C p.V89V Substitution - coding silent 1:114510810-114510810 - MO_1241 COSM5571723 c.1899A>T p.V633V Substitution - coding silent 1:114421598-114421598 - TCGA-HU-A4H8-01 COSM4020866 c.1372C>T p.R458C Substitution - Missense 1:114427225-114427225 - C10 COSM4616417 c.1837A>G p.M613V Substitution - Missense 1:114424614-114424614 - PDA_007 COSM4998182 c.1241A>C p.N414T Substitution - Missense 1:114427809-114427809 - TCGA-BS-A0UF-01 COSM4875611 c.2818G>T p.E940* Substitution - Nonsense 1:114402834-114402834 - HCC76T COSM1600583 c.2768+10A>G p.? Unknown 1:114405400-114405400 - TCGA-B5-A0JY-01 COSM894171 c.3099G>T p.K1033N Substitution - Missense 1:114399478-114399478 - 262LT COSM4383183 c.1249A>T p.N417Y Substitution - Missense 1:114427801-114427801 - TCGA-D8-A1JA-01 COSM3801350 c.2929G>T p.E977* Substitution - Nonsense 1:114401427-114401427 - ESO-859 COSM894174 c.2903G>A p.R968H Substitution - Missense 1:114401453-114401453 - TCGA-BR-8690-01 COSM4020863 c.1466A>T p.N489I Substitution - Missense 1:114425678-114425678 - HCC76T COSM3704851 c.2768+10A>G p.? Unknown 1:114405400-114405400 - TCGA-AP-A05N-01 COSM4863339 c.2816T>A p.V939D Substitution - Missense 1:114402836-114402836 - SH-7032 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-02-0068-01 COSM1559267 c.157G>C p.A53P Substitution - Missense 1:114510920-114510920 - CSCC-5-T COSM4458645 c.1094C>T p.A365V Substitution - Missense 1:114430859-114430859 - 2293754 COSM4606747 c.1652A>G p.Q551R Substitution - Missense 1:114425492-114425492 - 2492726 COSM5724594 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - SH-1641 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - TCGA-BR-8680-01 COSM4020857 c.1931G>A p.S644N Substitution - Missense 1:114421566-114421566 - HCC116 COSM3704855 c.267T>C p.V89V Substitution - coding silent 1:114510810-114510810 - sysucc-1163T COSM5458196 c.1213C>A p.L405I Substitution - Missense 1:114427837-114427837 - CHC303T COSM4957872 c.1417T>G p.L473V Substitution - Missense 1:114427180-114427180 - SH-8559 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - Pat_41_A COSM5843125 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - HRA19 COSM4637610 c.2959C>G p.P987A Substitution - Missense 1:114401397-114401397 - TCGA-FS-A1ZZ-06 COSM3471573 c.3084C>T p.V1028V Substitution - coding silent 1:114399493-114399493 - TCGA-FS-A1ZP-06 COSM3471581 c.768C>T p.I256I Substitution - coding silent 1:114463434-114463434 - 20 COSM5732172 c.1109T>C p.I370T Substitution - Missense 1:114430844-114430844 - 127T COSM5575966 c.817C>A p.P273T Substitution - Missense 1:114463210-114463210 - TCGA-02-0025-01 COSM1559267 c.157G>C p.A53P Substitution - Missense 1:114510920-114510920 - 8068556 COSM4408161 c.983C>T p.A328V Substitution - Missense 1:114433674-114433674 - TCGA-AX-A0J1-01 COSM894174 c.2903G>A p.R968H Substitution - Missense 1:114401453-114401453 - TCGA-AM-5820-01 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-CU-A3YL-01 COSM3788464 c.3121A>G p.M1041V Substitution - Missense 1:114397990-114397990 - PDA_090 COSM5003014 c.2714G>T p.C905F Substitution - Missense 1:114405464-114405464 - BK0100 COSM4189106 c.2801T>C p.I934T Substitution - Missense 1:114402851-114402851 - TCGA-EB-A41A-01 COSM2177208 c.1932C>T p.S644S Substitution - coding silent 1:114421565-114421565 - RK308_C01 COSM3740552 c.2689G>T p.G897* Substitution - Nonsense 1:114405489-114405489 - TCGA-BR-8680-01 COSM4020874 c.554G>A p.R185H Substitution - Missense 1:114464361-114464361 - PD1487a COSM13373 c.2653C>T p.P885S Substitution - Missense 1:114405525-114405525 - T3024 COSM4736054 c.1903G>A p.V635I Substitution - Missense 1:114421594-114421594 - sysucc-311T COSM5477504 c.1544G>A p.R515Q Substitution - Missense 1:114425600-114425600 - HCC157 COSM3704849 c.2927A>G p.H976R Substitution - Missense 1:114401429-114401429 - TCGA-EI-6507-01 COSM4945944 c.2900A>G p.E967G Substitution - Missense 1:114401456-114401456 - TCGA-02-0010-01 COSM35460 c.3169A>T p.K1057* Substitution - Nonsense 1:114397942-114397942 - TCGA-AX-A05Z-01 COSM4863553 c.2081G>A p.S694N Substitution - Missense 1:114410297-114410297 - 19 COSM5745703 c.3304A>G p.T1102A Substitution - Missense 1:114397728-114397728 - Pat_06_B COSM5843124 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - TCGA-02-0023-01 COSM1559267 c.157G>C p.A53P Substitution - Missense 1:114510920-114510920 - T3094 COSM4736057 c.1631C>A p.P544Q Substitution - Missense 1:114425513-114425513 - TCGA-AP-A056-01 COSM894178 c.2710A>C p.K904Q Substitution - Missense 1:114405468-114405468 - 2492724 COSM5724594 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - TCGA-FS-A1ZZ-06 COSM3471572 c.3084C>T p.V1028V Substitution - coding silent 1:114399493-114399493 - Pat_41_B COSM5843125 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - TCGA-D5-6930-01 COSM2177259 c.815G>A p.R272H Substitution - Missense 1:114463212-114463212 - LP6007523-DNA_A01 COSM5037362 c.1339T>A p.C447S Substitution - Missense 1:114427258-114427258 - TCGA-D7-6518-01 COSM2177141 c.3258C>T p.F1086F Substitution - coding silent 1:114397774-114397774 - SH-8559 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-BR-4362-01 COSM4020855 c.2184G>T p.P728P Substitution - coding silent 1:114410194-114410194 - TCGA-BR-4368-01 COSM4020867 c.1337G>A p.R446Q Substitution - Missense 1:114427260-114427260 - CHC2321T COSM3667313 c.3047A>T p.Q1016L Substitution - Missense 1:114399530-114399530 - KPOPBR-03-T COSM5965726 c.3235G>A p.E1079K Substitution - Missense 1:114397797-114397797 - HCC116 COSM1600585 c.267T>C p.V89V Substitution - coding silent 1:114510810-114510810 - TCGA-EE-A29X-06 COSM3471570 c.3265T>C p.L1089L Substitution - coding silent 1:114397767-114397767 - TCGA-DK-A3WW-01 COSM3788467 c.949C>G p.Q317E Substitution - Missense 1:114433708-114433708 - SH-9771 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - SH-9771 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - T3503 COSM4736040 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - CHC2321T COSM3667314 c.3047A>T p.Q1016L Substitution - Missense 1:114399530-114399530 - TCGA-B5-A0JR-01 COSM894180 c.2399G>A p.G800D Substitution - Missense 1:114406960-114406960 - TCGA-CH-5751-01 COSM4879190 c.861C>T p.F287F Substitution - coding silent 1:114463166-114463166 - PDA_007 COSM4998181 c.1241A>C p.N414T Substitution - Missense 1:114427809-114427809 - S02245 COSM5678350 c.432C>T p.P144P Substitution - coding silent 1:114510645-114510645 - TCGA-CZ-5456-01 COSM462671 c.1619C>A p.P540Q Substitution - Missense 1:114425525-114425525 - PD1489a COSM13372 c.1740G>A p.M580I Substitution - Missense 1:114424711-114424711 - 8068556 COSM4408160 c.983C>T p.A328V Substitution - Missense 1:114433674-114433674 - SH-8559 COSM5019220 c.1303-10delT p.? Unknown 1:114427304-114427304 - SH-3327 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - 86506 COSM95403 c.1812G>T p.R604S Substitution - Missense 1:114424639-114424639 - HCC827R1 COSM1685148 c.2802T>C p.I934I Substitution - coding silent 1:114402850-114402850 - SH-3327 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - SC_9058 COSM5547880 c.1155+2_1155+11delTATGGTTCAA p.? Unknown 1:114430787-114430796 - 2492726 COSM5724593 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - TCGA-A5-A0GW-01 COSM4872135 c.1172G>T p.R391I Substitution - Missense 1:114427878-114427878 - T3174 COSM4736049 c.2132delC p.P711fs*7 Deletion - Frameshift 1:114410246-114410246 - TCGA-AP-A05N-01 COSM894177 c.2816T>A p.V939D Substitution - Missense 1:114402836-114402836 - YUMOBER COSM5377264 c.1537C>T p.Q513* Substitution - Nonsense 1:114425607-114425607 - TCGA-BS-A0UV-01 COSM1738523 c.2966C>T p.S989L Substitution - Missense 1:114401390-114401390 - TCGA-30-1855-01 COSM1320121 c.2464C>G p.L822V Substitution - Missense 1:114405714-114405714 - TCGA-AP-A051-01 COSM894189 c.820G>A p.V274I Substitution - Missense 1:114463207-114463207 - PT24_1 COSM5904130 c.2746C>T p.P916S Substitution - Missense 1:114405432-114405432 - TCGA-HC-7077-01 COSM3671352 c.3085C>T p.R1029C Substitution - Missense 1:114399492-114399492 - TCGA-BR-6452-01 COSM4020854 c.3225T>C p.D1075D Substitution - coding silent 1:114397807-114397807 - HCC76 COSM1600583 c.2768+10A>G p.? Unknown 1:114405400-114405400 - CHC303T COSM4957872 c.1417T>G p.L473V Substitution - Missense 1:114427180-114427180 - LIM1215 COSM4639321 c.982G>T p.A328S Substitution - Missense 1:114433675-114433675 - HRA19 COSM4637609 c.2959C>G p.P987A Substitution - Missense 1:114401397-114401397 - SW1222 COSM4654659 c.1842G>A p.Q614Q Substitution - coding silent 1:114424609-114424609 - WA11 COSM242036 c.3271G>C p.E1091Q Substitution - Missense 1:114397761-114397761 - KM12 COSM2177184 c.2579G>A p.G860E Substitution - Missense 1:114405599-114405599 - TCGA-AZ-6598-01 COSM1332878 c.1035G>A p.Q345Q Substitution - coding silent 1:114433622-114433622 - TCGA-D3-A2JO-06 COSM3471575 c.2098C>T p.L700L Substitution - coding silent 1:114410280-114410280 - 8031867 COSM3385047 c.2525C>T p.P842L Substitution - Missense 1:114405653-114405653 - SH-1679 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - T3503 COSM4736042 c.2612C>T p.S871L Substitution - Missense 1:114405566-114405566 - SC_9008 COSM5562858 c.2129C>T p.P710L Substitution - Missense 1:114410249-114410249 - STC252 COSM5052409 c.1819G>A p.G607S Substitution - Missense 1:114424632-114424632 - CML015T COSM5802650 c.3297T>A p.G1099G Substitution - coding silent 1:114397735-114397735 - YUKAT COSM5377267 c.972G>A p.E324E Substitution - coding silent 1:114433685-114433685 - T3091 COSM4736046 c.2389_2390insA p.T797fs*15 Insertion - Frameshift 1:114406969-114406970 - 262LT COSM4383184 c.1249A>T p.N417Y Substitution - Missense 1:114427801-114427801 - BHY COSM2177191 c.2414G>A p.C805Y Substitution - Missense 1:114406945-114406945 - TCGA-BR-6452-01 COSM4020869 c.1143A>G p.L381L Substitution - coding silent 1:114430810-114430810 - CSCC-16-T COSM4453492 c.3032A>G p.Q1011R Substitution - Missense 1:114399545-114399545 - CML015T COSM5802651 c.3297T>A p.G1099G Substitution - coding silent 1:114397735-114397735 - Pat_41_B COSM5843121 c.2690G>A p.G897E Substitution - Missense 1:114405488-114405488 - TCGA-D1-A160-01 COSM894179 c.2605C>T p.H869Y Substitution - Missense 1:114405573-114405573 - Gp5D COSM2177186 c.2554T>A p.S852T Substitution - Missense 1:114405624-114405624 - MZ7-mel COSM21194 c.3255C>T p.T1085T Substitution - coding silent 1:114397777-114397777 - ESCC-D15 COSM5045484 c.2738G>T p.C913F Substitution - Missense 1:114405440-114405440 - BHY COSM2177190 c.2414G>A p.C805Y Substitution - Missense 1:114406945-114406945 - ESCC-207T COSM3934017 c.1786G>T p.A596S Substitution - Missense 1:114424665-114424665 - SH-0348 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - SH-3327 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - TCGA-A4-7828-01 COSM3984110 c.2605C>T p.H869Y Substitution - Missense 1:114405573-114405573 - 2492725 COSM5724593 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - TCGA-F1-6177-01 COSM4020876 c.539G>A p.R180Q Substitution - Missense 1:114464376-114464376 - ESCC_10 COSM4870653 c.2037G>A p.S679S Substitution - coding silent 1:114421460-114421460 - RK015_C01 COSM1626323 c.2127A>T p.L709L Substitution - coding silent 1:114410251-114410251 - TCGA-BS-A0UF-01 COSM894176 c.2818G>T p.E940* Substitution - Nonsense 1:114402834-114402834 - PD0119a COSM6188 c.2968-1G>C p.? Unknown 1:114399610-114399610 - TCGA-AM-5820-01 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - SH-1641 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - HT-29 COSM1667835 c.2654C>T p.P885L Substitution - Missense 1:114405524-114405524 - 20 COSM5732173 c.1109T>C p.I370T Substitution - Missense 1:114430844-114430844 - PD1520a COSM20449 c.3039_3040insA p.H1014fs*10 Insertion - Frameshift 1:114399537-114399538 - HCC64 COSM3704853 c.915A>G p.K305K Substitution - coding silent 1:114463112-114463112 - pfg181T COSM4760395 c.701G>A p.G234E Substitution - Missense 1:114463501-114463501 - TCGA-46-3769-01 COSM674237 c.1227G>A p.V409V Substitution - coding silent 1:114427823-114427823 - TCGA-B5-A11E-01 COSM894182 c.2037G>A p.S679S Substitution - coding silent 1:114421460-114421460 - sysucc-1163T COSM5458195 c.1213C>A p.L405I Substitution - Missense 1:114427837-114427837 - TCGA-EB-A41A-01 COSM2177209 c.1932C>T p.S644S Substitution - coding silent 1:114421565-114421565 - LPJ023 COSM1315893 c.1676C>A p.P559H Substitution - Missense 1:114425468-114425468 - CSCC-5-T COSM4458644 c.1094C>T p.A365V Substitution - Missense 1:114430859-114430859 - TCGA-B5-A11E-01 COSM894175 c.2865G>A p.A955A Substitution - coding silent 1:114402787-114402787 - TCGA-BR-8690-01 COSM4020862 c.1466A>T p.N489I Substitution - Missense 1:114425678-114425678 - T3080 COSM4736062 c.1232A>G p.H411R Substitution - Missense 1:114427818-114427818 - TCGA-EE-A2GI-06 COSM3471579 c.1114G>T p.E372* Substitution - Nonsense 1:114430839-114430839 - Pat_53_B COSM5843125 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - 2492725 COSM5724594 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - C10 COSM4616416 c.1837A>G p.M613V Substitution - Missense 1:114424614-114424614 - TCGA-D1-A15X-01 COSM894169 c.3281A>G p.Q1094R Substitution - Missense 1:114397751-114397751 - Pat_53_B COSM5843124 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - MZ7-mel COSM21194 c.3255C>T p.T1085T Substitution - coding silent 1:114397777-114397777 - HCC035T COSM1332873 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - RK015_C COSM3700461 c.2127A>T p.L709L Substitution - coding silent 1:114410251-114410251 - sysucc-311T COSM2177182 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - SJOS001105_D1 COSM5023821 c.857delT p.F287fs*8 Deletion - Frameshift 1:114463170-114463170 - CSCC-62-T COSM4486392 c.3046C>A p.Q1016K Substitution - Missense 1:114399531-114399531 - U2940 COSM5622044 c.2201C>T p.S734F Substitution - Missense 1:114408734-114408734 - TCGA-AO-A128-01 COSM3801352 c.1338G>A p.R446R Substitution - coding silent 1:114427259-114427259 - 1604875 COSM140953 c.2155C>T p.P719S Substitution - Missense 1:114410223-114410223 - ATL023 COSM5704846 c.2399G>A p.G800D Substitution - Missense 1:114406960-114406960 - T3503 COSM4736041 c.2612C>T p.S871L Substitution - Missense 1:114405566-114405566 - pfg008T COSM4765928 c.200_201insG p.A68fs*70 Insertion - Frameshift 1:114510876-114510877 - TCGA-AP-A051-01 COSM4872335 c.820G>A p.V274I Substitution - Missense 1:114463207-114463207 - S01366 COSM5667894 c.120G>T p.A40A Substitution - coding silent 1:114510957-114510957 - CHC2321T COSM3667313 c.3047A>T p.Q1016L Substitution - Missense 1:114399530-114399530 - 2492724 COSM5724593 c.2406G>T p.R802S Substitution - Missense 1:114406953-114406953 - YUROC COSM5377261 c.2278A>G p.T760A Substitution - Missense 1:114407081-114407081 - 1N30-VS-1T30 COSM2177142 c.3258C>T p.F1086F Substitution - coding silent 1:114397774-114397774 - sysucc-880T COSM5461935 c.833T>C p.V278A Substitution - Missense 1:114463194-114463194 - SJOS001105_D1 COSM5023820 c.857delT p.F287fs*8 Deletion - Frameshift 1:114463170-114463170 - 041T COSM1728869 c.493A>T p.I165F Substitution - Missense 1:114510584-114510584 - TCGA-AA-A010-01 COSM285940 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - ESCC-D15 COSM5045483 c.2738G>T p.C913F Substitution - Missense 1:114405440-114405440 - CSCC-27-T COSM4565225 c.1885_1886CC>TT p.P629F Substitution - Missense 1:114421611-114421612 - 011T COSM1727637 c.1384G>A p.D462N Substitution - Missense 1:114427213-114427213 - C086 COSM5540808 c.1625C>T p.P542L Substitution - Missense 1:114425519-114425519 - TCGA-D1-A17Q-01 COSM894168 c.3322G>T p.D1108Y Substitution - Missense 1:114397710-114397710 - HCC76 COSM3704851 c.2768+10A>G p.? Unknown 1:114405400-114405400 - T2959 COSM4736051 c.1928C>T p.T643M Substitution - Missense 1:114421569-114421569 - 66 COSM5742746 c.1924C>A p.P642T Substitution - Missense 1:114421573-114421573 - T3080 COSM4736061 c.1232A>G p.H411R Substitution - Missense 1:114427818-114427818 - 8031867 COSM3385046 c.2525C>T p.P842L Substitution - Missense 1:114405653-114405653 - SH-3133 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - 2521243 COSM5886110 c.1040+1G>A p.? Unknown 1:114433616-114433616 - CHC2321T COSM3667314 c.3047A>T p.Q1016L Substitution - Missense 1:114399530-114399530 - TCGA-AA-3510-01 COSM894188 c.984G>A p.A328A Substitution - coding silent 1:114433673-114433673 - PD0119a COSM6188 c.2968-1G>C p.? Unknown 1:114399610-114399610 - TCGA-A3-3316-01 COSM1491616 c.1635T>A p.T545T Substitution - coding silent 1:114425509-114425509 - TCGA-46-3769-01 COSM4859335 c.1227G>A p.V409V Substitution - coding silent 1:114427823-114427823 - SH-8559 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - 2293754 COSM4606748 c.1652A>G p.Q551R Substitution - Missense 1:114425492-114425492 - S02245 COSM5678351 c.432C>T p.P144P Substitution - coding silent 1:114510645-114510645 - T3091 COSM4736045 c.2389_2390insA p.T797fs*15 Insertion - Frameshift 1:114406969-114406970 - LUAD-CHTN-MAD06-00678 COSM360693 c.1267G>T p.G423C Substitution - Missense 1:114427783-114427783 - MO_1241 COSM5571722 c.1899A>T p.V633V Substitution - coding silent 1:114421598-114421598 - BK0100 COSM4189105 c.2801T>C p.I934T Substitution - Missense 1:114402851-114402851 - C135 COSM4610892 c.1650_1651insACA p.T550_Q551insT Insertion - In frame 1:114425493-114425494 - TCGA-AP-A051-01 COSM4874013 c.3233C>T p.T1078I Substitution - Missense 1:114397799-114397799 - Gp2D COSM2177185 c.2554T>A p.S852T Substitution - Missense 1:114405624-114405624 - TCGA-BS-A0UF-01 COSM285940 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - TCGA-A5-A0GW-01 COSM894186 c.1172G>T p.R391I Substitution - Missense 1:114427878-114427878 - SC_9047 COSM5560583 c.2150T>G p.M717R Substitution - Missense 1:114410228-114410228 - TCGA-26-5135 COSM2157079 c.1319G>A p.R440H Substitution - Missense 1:114427278-114427278 - LP6007523-DNA_A01 COSM5037361 c.1339T>A p.C447S Substitution - Missense 1:114427258-114427258 - MINO COSM1738523 c.2966C>T p.S989L Substitution - Missense 1:114401390-114401390 - RK015_C COSM1626323 c.2127A>T p.L709L Substitution - coding silent 1:114410251-114410251 - T2959 COSM4736052 c.1928C>T p.T643M Substitution - Missense 1:114421569-114421569 - SH-1679 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-HU-A4G8-01 COSM4020852 c.3232A>G p.T1078A Substitution - Missense 1:114397800-114397800 - 19 COSM5745704 c.3304A>G p.T1102A Substitution - Missense 1:114397728-114397728 - TCGA-BR-4184-01 COSM4020860 c.1696-1G>A p.? Unknown 1:114424756-114424756 - 2334199 COSM323983 c.2245G>T p.G749C Substitution - Missense 1:114408690-114408690 - PT24_1 COSM5904131 c.2746C>T p.P916S Substitution - Missense 1:114405432-114405432 - SH-1641 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - Pat_06_B COSM5843125 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - TCGA-D5-6930-01 COSM133957 c.815G>A p.R272H Substitution - Missense 1:114463212-114463212 - TCGA-D1-A176-01 COSM894183 c.1870C>T p.P624S Substitution - Missense 1:114421627-114421627 - TCGA-B5-A11E-01 COSM4870674 c.2865G>A p.A955A Substitution - coding silent 1:114402787-114402787 - 2521243 COSM5886111 c.1040+1G>A p.? Unknown 1:114433616-114433616 - TCGA-D1-A16X-01 COSM4865810 c.1053A>G p.V351V Substitution - coding silent 1:114430900-114430900 - TCGA-AR-A255-01 COSM1472437 c.2923T>C p.C975R Substitution - Missense 1:114401433-114401433 - TCGA-18-3416-01 COSM674239 c.2412T>G p.A804A Substitution - coding silent 1:114406947-114406947 - SC_9058 COSM5547881 c.1155+2_1155+11delTATGGTTCAA p.? Unknown 1:114430787-114430796 - 66 COSM5742747 c.1924C>A p.P642T Substitution - Missense 1:114421573-114421573 - SH-9771 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-D3-A2JO-06 COSM3471574 c.2098C>T p.L700L Substitution - coding silent 1:114410280-114410280 - TCGA-G4-6302-01 COSM3688905 c.2896T>C p.C966R Substitution - Missense 1:114401460-114401460 - TCGA-BR-4184-01 COSM4020859 c.1696-1G>A p.? Unknown 1:114424756-114424756 - XHDG35 COSM4769480 c.3123G>A p.M1041I Substitution - Missense 1:114397988-114397988 - TCGA-AX-A05Z-01 COSM894181 c.2081G>A p.S694N Substitution - Missense 1:114410297-114410297 - TCGA-GM-A3NW-01 COSM3801356 c.570G>T p.Q190H Substitution - Missense 1:114464345-114464345 - TCGA-EI-6507-01 COSM1560085 c.2900A>G p.E967G Substitution - Missense 1:114401456-114401456 - TCGA-CH-5751-01 COSM1127464 c.861C>T p.F287F Substitution - coding silent 1:114463166-114463166 - Pat_41_B COSM5843122 c.2690G>A p.G897E Substitution - Missense 1:114405488-114405488 - TCGA-F1-6177-01 COSM4020875 c.539G>A p.R180Q Substitution - Missense 1:114464376-114464376 - T368 COSM4736043 c.2455_2456delTC p.S819fs*8 Deletion - Frameshift 1:114405722-114405723 - CHC303T COSM4957871 c.1417T>G p.L473V Substitution - Missense 1:114427180-114427180 - sysucc-880T COSM5461936 c.833T>C p.V278A Substitution - Missense 1:114463194-114463194 - TCGA-AX-A0J1-01 COSM4867643 c.2903G>A p.R968H Substitution - Missense 1:114401453-114401453 - pfg008T COSM4765927 c.200_201insG p.A68fs*70 Insertion - Frameshift 1:114510876-114510877 - SH-9771 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - SH-7166 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-06-0174-01 COSM1559266 c.1887C>A p.P629P Substitution - coding silent 1:114421610-114421610 - TCGA-EA-A78R-01 COSM4852042 c.1612C>A p.Q538K Substitution - Missense 1:114425532-114425532 - TCGA-BS-A0UF-01 COSM2177182 c.2593C>T p.R865* Substitution - Nonsense 1:114405585-114405585 - HCC116T COSM1600585 c.267T>C p.V89V Substitution - coding silent 1:114510810-114510810 - 07-058 COSM3735916 c.2519T>C p.I840T Substitution - Missense 1:114405659-114405659 - HCC64T COSM1600584 c.915A>G p.K305K Substitution - coding silent 1:114463112-114463112 - TCGA-AP-A056-01 COSM894188 c.984G>A p.A328A Substitution - coding silent 1:114433673-114433673 - PD9760a COSM5789663 c.3337C>T p.R1113C Substitution - Missense 1:114397695-114397695 - XHDG35 COSM4769479 c.3123G>A p.M1041I Substitution - Missense 1:114397988-114397988 - YUMOBER COSM5377265 c.1537C>T p.Q513* Substitution - Nonsense 1:114425607-114425607 - TCGA-HC-7077-01 COSM3671353 c.3085C>T p.R1029C Substitution - Missense 1:114399492-114399492 - ESCC-207T COSM3934018 c.1786G>T p.A596S Substitution - Missense 1:114424665-114424665 - TCGA-HU-A4H8-01 COSM4020865 c.1372C>T p.R458C Substitution - Missense 1:114427225-114427225 - RK064_C01 COSM1626324 c.2074G>T p.G692C Substitution - Missense 1:114410304-114410304 - TCGA-D1-A17Q-01 COSM4865380 c.3322G>T p.D1108Y Substitution - Missense 1:114397710-114397710 - TCGA-D8-A1JA-01 COSM3801351 c.2929G>T p.E977* Substitution - Nonsense 1:114401427-114401427 - 86576 COSM95404 c.379G>A p.V127M Substitution - Missense 1:114510698-114510698 - RK156_C01 COSM3700459 c.2988T>C p.I996I Substitution - coding silent 1:114399589-114399589 - TCGA-AP-A051-01 COSM894170 c.3233C>T p.T1078I Substitution - Missense 1:114397799-114397799 - CAL27 COSM4593688 c.1136C>G p.S379C Substitution - Missense 1:114430817-114430817 - NCI-H2009 COSM12939 c.2431G>A p.E811K Substitution - Missense 1:114405747-114405747 - TCGA-B5-A0JN-01 COSM894184 c.1782G>C p.Q594H Substitution - Missense 1:114424669-114424669 - S02065 COSM5672442 c.100G>T p.A34S Substitution - Missense 1:114510977-114510977 - TCGA-BR-6452-01 COSM4020853 c.3225T>C p.D1075D Substitution - coding silent 1:114397807-114397807 - S02065 COSM5672443 c.100G>T p.A34S Substitution - Missense 1:114510977-114510977 - ATL023 COSM894180 c.2399G>A p.G800D Substitution - Missense 1:114406960-114406960 - TCGA-26-5135-01 COSM2157078 c.1319G>A p.R440H Substitution - Missense 1:114427278-114427278 - TCGA-HU-A4G8-01 COSM4020851 c.3232A>G p.T1078A Substitution - Missense 1:114397800-114397800 - SH-2871 COSM3750242 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-22-5473-01 COSM4862776 c.1218C>T p.S406S Substitution - coding silent 1:114427832-114427832 - AOCS-139-19-0 COSM4004713 c.1028A>C p.Q343P Substitution - Missense 1:114433629-114433629 - HCC157 COSM3704850 c.2927A>G p.H976R Substitution - Missense 1:114401429-114401429 - TCGA-BR-4362-01 COSM4020856 c.2184G>T p.P728P Substitution - coding silent 1:114410194-114410194 - TCGA-F4-6856-01 COSM1332873 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - MD-329 COSM303448 c.1389C>A p.P463P Substitution - coding silent 1:114427208-114427208 - TCGA-B5-A11E-01 COSM4870653 c.2037G>A p.S679S Substitution - coding silent 1:114421460-114421460 - OSCC-GB_00690111 COSM4886924 c.490C>A p.P164T Substitution - Missense 1:114510587-114510587 - CAL27 COSM4593689 c.1136C>G p.S379C Substitution - Missense 1:114430817-114430817 - TCGA-A4-7828-01 COSM894179 c.2605C>T p.H869Y Substitution - Missense 1:114405573-114405573 - TCGA-B5-A0JY-01 COSM4869453 c.3099G>T p.K1033N Substitution - Missense 1:114399478-114399478 - TCGA-06-0187-01 COSM1559266 c.1887C>A p.P629P Substitution - coding silent 1:114421610-114421610 - TCGA-AG-3894-01 COSM258629 c.1002_1004delGAA p.K334delK Deletion - In frame 1:114433653-114433655 - TCGA-F4-6856-01 COSM4736040 c.2864C>T p.A955V Substitution - Missense 1:114402788-114402788 - CSCC-30-T COSM4538011 c.2493G>A p.L831L Substitution - coding silent 1:114405685-114405685 - CSCC-27-T COSM4565224 c.1885_1886CC>TT p.P629F Substitution - Missense 1:114421611-114421612 - SH-0348 COSM5019221 c.1303-10delT p.? Unknown 1:114427304-114427304 - TCGA-GM-A2D9-01 COSM3801349 c.3190C>T p.Q1064* Substitution - Nonsense 1:114397842-114397842 - CSCC-16-T COSM4453493 c.3032A>G p.Q1011R Substitution - Missense 1:114399545-114399545 - HCC157T COSM3704850 c.2927A>G p.H976R Substitution - Missense 1:114401429-114401429 - TCGA-EK-A2PG-01 COSM4819243 c.3363G>C p.E1121D Substitution - Missense 1:114397669-114397669 - PD1520a COSM20449 c.3039_3040insA p.H1014fs*10 Insertion - Frameshift 1:114399537-114399538 - Gp5D COSM2177185 c.2554T>A p.S852T Substitution - Missense 1:114405624-114405624 - TCGA-AP-A056-01 COSM4868459 c.984G>A p.A328A Substitution - coding silent 1:114433673-114433673 - Pat_65_A COSM5843125 c.1648_1650delACA p.T550delT Deletion - In frame 1:114425494-114425496 - T3024 COSM4736053 c.1903G>A p.V635I Substitution - Missense 1:114421594-114421594 - TCGA-BR-8680-01 COSM4020858 c.1931G>A p.S644N Substitution - Missense 1:114421566-114421566 - SC_9047 COSM5560582 c.2150T>G p.M717R Substitution - Missense 1:114410228-114410228 - 7T COSM5575609 c.1231C>T p.H411Y Substitution - Missense 1:114427819-114427819 - TCGA-BR-8680-01 COSM4020872 c.1005T>G p.N335K Substitution - Missense 1:114433652-114433652 - TCGA-D1-A17M-01 COSM4865070 c.3016G>A p.V1006M Substitution - Missense 1:114399561-114399561 - YUROC COSM5377262 c.2278A>G p.T760A Substitution - Missense 1:114407081-114407081 - LUAD-NYU1021 COSM367980 c.3086G>A p.R1029H Substitution - Missense 1:114399491-114399491 - SH-1439 COSM3750243 c.1146A>G p.Q382Q Substitution - coding silent 1:114430807-114430807 - TCGA-AP-A0LE-01 COSM4871054 c.1285C>T p.L429L Substitution - coding silent 1:114427765-114427765 - 587226 COSM1230319 c.1318C>T p.R440C Substitution - Missense 1:114427279-114427279 - TCGA-A3-3320-01 COSM1491616 c.1635T>A p.T545T Substitution - coding silent 1:114425509-114425509 - YUKAT COSM5377266 c.972G>A p.E324E Substitution - coding silent 1:114433685-114433685 - TCGA-DW-7840-01 COSM3984112 c.1887C>G p.P629P Substitution - coding silent 1:114421610-114421610 - TCGA-FS-A1ZP-06 COSM3471582 c.768C>T p.I256I Substitution - coding silent 1:114463434-114463434 - MZ7-mel COSM21194 c.3255C>T p.T1085T Substitution - coding silent 1:114397777-114397777 - sysucc-311T COSM5477503 c.1544G>A p.R515Q Substitution - Missense 1:114425600-114425600 - PDA_090 COSM5003013 c.2714G>T p.C905F Substitution - Missense 1:114405464-114405464 - ESCC_10 COSM894182 c.2037G>A p.S679S Substitution - coding silent 1:114421460-114421460 - TCGA-AP-A056-01 COSM4868862 c.2710A>C p.K904Q Substitution - Missense 1:114405468-114405468 - OSCC-GB_00690111 COSM4886923 c.490C>A p.P164T Substitution - Missense 1:114510587-114510587 - HCC64T COSM3704853 c.915A>G p.K305K Substitution - coding silent 1:114463112-114463112 - TCGA-AP-A0LE-01 COSM894185 c.1285C>T p.L429L Substitution - coding silent 1:114427765-114427765 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.26814;Hs.26815;Hs.26837 1p13.1 605769

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Nonsense p.L958* c.2873T>G 1 114945401 CM A C Synonymous p.A804A c.2412T>G 1 114949569 LUSC A G Missense p.C975R c.2923T>C 1 114944055 BRCA A G Synonymous p.D448D c.1344T>C 1 114969875 LUAD A G Synonymous p.L1089L c.3265T>C 1 114940389 CM A T IntronicSNV . c.3171+7T>A 1 114940555 RCCC A T Missense p.V939D c.2816T>A 1 114945458 UCEC C A Missense p.G607V c.1820G>T 1 114967253 RCCC C A Missense p.G749C c.2245G>T 1 114951312 SCLC C A Missense p.R391I c.1172G>T 1 114970500 UCEC C A Nonsense p.E372* c.1114G>T 1 114973461 CM C G Missense p.E1091D c.3273G>C 1 114940381 LUAD C G Missense p.E811Q c.2431G>C 1 114948369 HNSC C G Missense p.G270A c.809G>C 1 115005840 COREAD C G Missense p.G455A c.1364G>C 1 114969855 LUSC C G Missense p.L443F c.1329G>C 1 114969890 BRCA CT AA SpliceDonorBlockSubstitution . c.2193_2194delinsTT 1 114952806 LUAD C T IntronicSNV . c.527-4853G>A 1 115011863 CM C T Missense p.G875E c.2624G>A 1 114948176 CM C T Missense p.R180Q c.539G>A 1 115006998 STAD C T Missense p.R433Q c.1298G>A 1 114970374 CM C T Missense p.R440H c.1319G>A 1 114969900 GBM C T Missense p.R446Q c.1337G>A 1 114969882 STAD C T Missense p.R968H c.2903G>A 1 114944075 ESCA C T Missense p.V1006M c.3016G>A 1 114942183 UCEC C T Synonymous p.V409V c.1227G>A 1 114970445 LUSC G A 3-UTRSNV . c.3381+102C>T 1 114940171 CM G A IntronicSNV . c.3121-35C>T 1 114940647 CM G A Missense p.H869Y c.2605C>T 1 114948195 UCEC G A Missense p.P463S c.1387C>T 1 114969832 LUAD G A Missense p.P603S c.1807C>T 1 114967266 OV G A Missense p.P624S c.1870C>T 1 114964249 UCEC G A Missense p.R1029C c.3085C>T 1 114942114 PRAD G A Missense p.R185C c.553C>T 1 115006984 BRCA G A Nonsense p.Q283* c.847C>T 1 115005802 CM G A Synonymous p.F1086F c.3258C>T 1 114940396 STAD G A Synonymous p.F287F c.861C>T 1 115005788 PRAD G A Synonymous p.I256I c.768C>T 1 115006056 CM G A Synonymous p.L429L c.1285C>T 1 114970387 UCEC G A Synonymous p.L700L c.2098C>T 1 114952902 CM G A Synonymous p.S406S c.1218C>T 1 114970454 LUSC G A Synonymous p.V1028V c.3084C>T 1 114942115 CM G C Missense p.R407G c.1219C>G 1 114970453 CM G C Missense p.R655G c.1963C>G 1 114964156 CM G C Synonymous p.V892V c.2676C>G 1 114948124 ESCA T A Missense p.N652I c.1955A>T 1 114964164 HNSC T A Synonymous p.L709L c.2127A>T 1 114952873 HC - T Frameshift p.M845Nfs*3 c.2533dupA 1 114948267 RCCC T G 3-UTRSNV . c.3381+43A>C 1 114940230 RCCC T G Missense p.N581T c.1742A>C 1 114967331 COREAD TGT - InFrameDeletion p.T550delT c.1648_1650delACA 1 114968116 LGG TGT - InFrameDeletion p.T550delT c.1648_1650delACA 1 114968116 PRAD TGT - InFrameDeletion p.T550delT c.1648_1650delACA 1 114968116 THCA TTC - InFrameDeletion p.K334delK c.1002_1004delGAA 1 114976275 COREAD