Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 27671871 27671871 + Missense_Mutation SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:27671871C>T c.4339G>A c.(4339-4341)Gct>Act p.A1447T BLCA 2 27672403 27672403 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr2:27672403T>C c.4187A>G c.(4186-4188)tAt>tGt p.Y1396C BLCA 2 27672596 27672596 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr2:27672596C>G c.4122G>C c.(4120-4122)tgG>tgC p.W1374C BLCA 2 27672643 27672643 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr2:27672643C>A c.4075G>T c.(4075-4077)Gac>Tac p.D1359Y BLCA 2 27672878 27672878 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr2:27672878C>G c.4037G>C c.(4036-4038)gGa>gCa p.G1346A BLCA 2 27676285 27676285 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:27676285C>G c.3917G>C c.(3916-3918)gGa>gCa p.G1306A BLCA 2 27680610 27680610 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:27680610C>T c.3124G>A c.(3124-3126)Gaa>Aaa p.E1042K BLCA 2 27680731 27680731 + Missense_Mutation SNP C C T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr2:27680731C>T c.3088G>A c.(3088-3090)Gat>Aat p.D1030N BLCA 2 27681039 27681039 + Missense_Mutation SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr2:27681039G>C c.2929C>G c.(2929-2931)Cag>Gag p.Q977E BLCA 2 27683945 27683945 + Missense_Mutation SNP C C G TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr2:27683945C>G c.2458G>C c.(2458-2460)Gag>Cag p.E820Q BLCA 2 27684153 27684153 + Missense_Mutation SNP C C A TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr2:27684153C>A c.2425G>T c.(2425-2427)Ggg>Tgg p.G809W BLCA 2 27688348 27688348 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr2:27688348C>T c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K BLCA 2 27700949 27700949 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:27700949C>T c.1080G>A c.(1078-1080)gtG>gtA p.V360V BLCA 2 27703989 27703989 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr2:27703989C>T c.709G>A c.(709-711)Gac>Aac p.D237N BLCA 2 27703993 27703993 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 g.chr2:27703993G>A c.705C>T c.(703-705)agC>agT p.S235S BLCA 2 27706220 27706220 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:27706220G>A c.506C>T c.(505-507)tCt>tTt p.S169F BLCA 2 27706492 27706492 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr2:27706492G>C c.437C>G c.(436-438)tCt>tGt p.S146C BRCA 2 27667302 27667302 + Missense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 g.chr2:27667302C>A c.5247G>T c.(5245-5247)caG>caT p.Q1749H BRCA 2 27668692 27668692 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:27668692G>A c.4834C>T c.(4834-4836)Cta>Tta p.L1612L BRCA 2 27672430 27672430 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr2:27672430C>A c.e38-1 BRCA 2 27672601 27672601 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:27672601C>G c.4117G>C c.(4117-4119)Gag>Cag p.E1373Q BRCA 2 27672946 27672946 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr2:27672946G>C c.3969C>G c.(3967-3969)atC>atG p.I1323M BRCA 2 27688295 27688295 + Silent SNP T T C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:27688295T>C c.1920A>G c.(1918-1920)caA>caG p.Q640Q BRCA 2 27699513 27699513 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:27699513G>T c.1406C>A c.(1405-1407)gCt>gAt p.A469D BRCA 2 27700150 27700150 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:27700150A>C c.1259T>G c.(1258-1260)gTg>gGg p.V420G BRCA 2 27700950 27700950 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:27700950A>C c.1079T>G c.(1078-1080)gTg>gGg p.V360G BRCA 2 27700959 27700959 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:27700959A>C c.1070T>G c.(1069-1071)gTg>gGg p.V357G BRCA 2 27706176 27706176 + Nonsense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:27706176C>A c.550G>T c.(550-552)Gaa>Taa p.E184* BRCA 2 27707103 27707103 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 g.chr2:27707103G>A c.327C>T c.(325-327)ttC>ttT p.F109F BRCA 2 27707130 27707130 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:27707130A>C c.300T>G c.(298-300)ggT>ggG p.G100G CESC 2 27669207 27669207 + Missense_Mutation SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr2:27669207T>C c.4675A>G c.(4675-4677)Agg>Ggg p.R1559G CESC 2 27679448 27679448 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:27679448C>T c.3301G>A c.(3301-3303)Gag>Aag p.E1101K CESC 2 27680517 27680517 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr2:27680517C>G c.3217G>C c.(3217-3219)Gag>Cag p.E1073Q CESC 2 27684268 27684268 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr2:27684268G>A c.2310C>T c.(2308-2310)atC>atT p.I770I CESC 2 27700992 27700992 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:27700992C>T c.1037G>A c.(1036-1038)cGa>cAa p.R346Q CESC 2 27708261 27708261 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr2:27708261C>T c.149G>A c.(148-150)aGa>aAa p.R50K CHOL 2 27670404 27670404 + Missense_Mutation SNP G G A TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr2:27670404G>A c.4637C>T c.(4636-4638)gCa>gTa p.A1546V CHOL 2 27702379 27702379 + Silent SNP G G A TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr2:27702379G>A c.1002C>T c.(1000-1002)agC>agT p.S334S COAD 2 27668181 27668181 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:27668181G>T c.5050C>A c.(5050-5052)Ctg>Atg p.L1684M COAD 2 27668187 27668187 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27668187G>A c.5044C>T c.(5044-5046)Cga>Tga p.R1682* COAD 2 27669161 27669161 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27669161T>C c.4721A>G c.(4720-4722)gAc>gGc p.D1574G COAD 2 27670442 27670442 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27670442C>T c.4599G>A c.(4597-4599)acG>acA p.T1533T COAD 2 27672244 27672244 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:27672244C>T c.4228G>A c.(4228-4230)Gtg>Atg p.V1410M COAD 2 27672912 27672912 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:27672912C>T c.4003G>A c.(4003-4005)Gtt>Att p.V1335I COAD 2 27676351 27676351 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:27676351C>T c.3851G>A c.(3850-3852)cGa>cAa p.R1284Q COAD 2 27677000 27677000 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:27677000G>A c.3560C>T c.(3559-3561)gCt>gTt p.A1187V COAD 2 27677472 27677472 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:27677472C>T c.3427G>A c.(3427-3429)Gag>Aag p.E1143K COAD 2 27677499 27677499 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:27677499G>A c.3400C>T c.(3400-3402)Cgg>Tgg p.R1134W COAD 2 27677513 27677513 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:27677513G>A c.3386C>T c.(3385-3387)gCg>gTg p.A1129V COAD 2 27677525 27677525 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:27677525G>A c.3374C>T c.(3373-3375)tCc>tTc p.S1125F COAD 2 27681689 27681689 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:27681689A>G c.2834T>C c.(2833-2835)aTa>aCa p.I945T COAD 2 27681692 27681692 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:27681692G>A c.2831C>T c.(2830-2832)gCc>gTc p.A944V COAD 2 27681692 27681692 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27681692G>A c.2831C>T c.(2830-2832)gCc>gTc p.A944V COAD 2 27683894 27683894 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:27683894C>T c.2509G>A c.(2509-2511)Gca>Aca p.A837T COAD 2 27684142 27684142 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:27684142G>A c.2436C>T c.(2434-2436)taC>taT p.Y812Y COAD 2 27684360 27684360 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:27684360G>A c.2218C>T c.(2218-2220)Cgt>Tgt p.R740C COAD 2 27685571 27685571 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:27685571T>C c.2112A>G c.(2110-2112)gaA>gaG p.E704E COAD 2 27685972 27685972 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:27685972G>A c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W COAD 2 27693879 27693879 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:27693879G>A c.1608C>T c.(1606-1608)gaC>gaT p.D536D COAD 2 27699568 27699568 + Nonsense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:27699568G>A c.1351C>T c.(1351-1353)Cga>Tga p.R451* COAD 2 27700114 27700114 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:27700114C>T c.1295G>A c.(1294-1296)cGc>cAc p.R432H COAD 2 27700128 27700128 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr2:27700128G>T c.1281C>A c.(1279-1281)acC>acA p.T427T COAD 2 27700128 27700128 + Silent SNP G G T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:27700128G>T c.1281C>A c.(1279-1281)acC>acA p.T427T COAD 2 27702969 27702969 + Missense_Mutation SNP G G C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:27702969G>C c.833C>G c.(832-834)gCa>gGa p.A278G COAD 2 27702995 27702995 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27702995G>A c.807C>T c.(805-807)atC>atT p.I269I COAD 2 27703942 27703942 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:27703942G>A c.756C>T c.(754-756)ggC>ggT p.G252G COAD 2 27708305 27708305 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:27708305T>C c.105A>G c.(103-105)acA>acG p.T35T COAD 2 27708371 27708371 + Splice_Site SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:27708371C>A c.e2-1 COADREAD 2 27668181 27668181 + Missense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:27668181G>T c.5050C>A c.(5050-5052)Ctg>Atg p.L1684M COADREAD 2 27668187 27668187 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27668187G>A c.5044C>T c.(5044-5046)Cga>Tga p.R1682* COADREAD 2 27668234 27668234 + Missense_Mutation SNP T T C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:27668234T>C c.4997A>G c.(4996-4998)gAg>gGg p.E1666G COADREAD 2 27669161 27669161 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27669161T>C c.4721A>G c.(4720-4722)gAc>gGc p.D1574G COADREAD 2 27670442 27670442 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27670442C>T c.4599G>A c.(4597-4599)acG>acA p.T1533T COADREAD 2 27672244 27672244 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:27672244C>T c.4228G>A c.(4228-4230)Gtg>Atg p.V1410M COADREAD 2 27672912 27672912 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:27672912C>T c.4003G>A c.(4003-4005)Gtt>Att p.V1335I COADREAD 2 27676351 27676351 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:27676351C>T c.3851G>A c.(3850-3852)cGa>cAa p.R1284Q COADREAD 2 27677000 27677000 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:27677000G>A c.3560C>T c.(3559-3561)gCt>gTt p.A1187V COADREAD 2 27677472 27677472 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:27677472C>T c.3427G>A c.(3427-3429)Gag>Aag p.E1143K COADREAD 2 27677499 27677499 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:27677499G>A c.3400C>T c.(3400-3402)Cgg>Tgg p.R1134W COADREAD 2 27677513 27677513 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:27677513G>A c.3386C>T c.(3385-3387)gCg>gTg p.A1129V COADREAD 2 27677525 27677525 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:27677525G>A c.3374C>T c.(3373-3375)tCc>tTc p.S1125F COADREAD 2 27681689 27681689 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:27681689A>G c.2834T>C c.(2833-2835)aTa>aCa p.I945T COADREAD 2 27681692 27681692 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:27681692G>A c.2831C>T c.(2830-2832)gCc>gTc p.A944V COADREAD 2 27681692 27681692 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27681692G>A c.2831C>T c.(2830-2832)gCc>gTc p.A944V COADREAD 2 27683894 27683894 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:27683894C>T c.2509G>A c.(2509-2511)Gca>Aca p.A837T COADREAD 2 27684142 27684142 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:27684142G>A c.2436C>T c.(2434-2436)taC>taT p.Y812Y COADREAD 2 27684212 27684212 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:27684212C>T c.2366G>A c.(2365-2367)cGa>cAa p.R789Q COADREAD 2 27684360 27684360 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:27684360G>A c.2218C>T c.(2218-2220)Cgt>Tgt p.R740C COADREAD 2 27685571 27685571 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:27685571T>C c.2112A>G c.(2110-2112)gaA>gaG p.E704E COADREAD 2 27685972 27685972 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:27685972G>A c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W COADREAD 2 27693879 27693879 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:27693879G>A c.1608C>T c.(1606-1608)gaC>gaT p.D536D COADREAD 2 27699568 27699568 + Nonsense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:27699568G>A c.1351C>T c.(1351-1353)Cga>Tga p.R451* COADREAD 2 27700114 27700114 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr2:27700114C>T c.1295G>A c.(1294-1296)cGc>cAc p.R432H COADREAD 2 27700128 27700128 + Silent SNP G G T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr2:27700128G>T c.1281C>A c.(1279-1281)acC>acA p.T427T COADREAD 2 27700128 27700128 + Silent SNP G G T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:27700128G>T c.1281C>A c.(1279-1281)acC>acA p.T427T COADREAD 2 27702969 27702969 + Missense_Mutation SNP G G C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:27702969G>C c.833C>G c.(832-834)gCa>gGa p.A278G COADREAD 2 27702995 27702995 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:27702995G>A c.807C>T c.(805-807)atC>atT p.I269I COADREAD 2 27703942 27703942 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:27703942G>A c.756C>T c.(754-756)ggC>ggT p.G252G COADREAD 2 27708305 27708305 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:27708305T>C c.105A>G c.(103-105)acA>acG p.T35T COADREAD 2 27708371 27708371 + Splice_Site SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:27708371C>A c.e2-1 ESCA 2 27668210 27668210 + Missense_Mutation SNP A A G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr2:27668210A>G c.5021T>C c.(5020-5022)cTa>cCa p.L1674P ESCA 2 27669161 27669161 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr2:27669161T>C c.4721A>G c.(4720-4722)gAc>gGc p.D1574G ESCA 2 27679395 27679395 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr2:27679395G>A c.3354C>T c.(3352-3354)gaC>gaT p.D1118D ESCA 2 27679461 27679461 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr2:27679461C>G c.3288G>C c.(3286-3288)aaG>aaC p.K1096N ESCA 2 27682634 27682634 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:27682634delC c.2584delG c.(2584-2586)gacfs p.D862fs ESCA 2 27683889 27683889 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr2:27683889G>A c.2514C>T c.(2512-2514)ttC>ttT p.F838F ESCA 2 27695198 27695198 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:27695198G>A c.1443C>T c.(1441-1443)acC>acT p.T481T GBM 2 27669199 27669200 + Frame_Shift_Del DEL AG AG - TCGA-06-6389-01A-11D-1696-08 TCGA-06-6389-10A-01D-1696-08 g.chr2:27669199_27669200delAG c.4682_4683delCT c.(4681-4683)tctfs p.S1561fs GBM 2 27670769 27670769 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr2:27670769C>A c.4449G>T c.(4447-4449)agG>agT p.R1483S GBM 2 27682592 27682592 + Missense_Mutation SNP G G T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr2:27682592G>T c.2626C>A c.(2626-2628)Cac>Aac p.H876N GBM 2 27688614 27688614 + Splice_Site SNP G G A TCGA-32-4208-01A-01D-1353-08 TCGA-32-4208-10A-01D-1353-08 g.chr2:27688614G>A c.1828C>T c.(1828-1830)Cgg>Tgg p.R610W GBMLGG 2 27669199 27669200 + Frame_Shift_Del DEL AG AG - TCGA-06-6389-01A-11D-1696-08 TCGA-06-6389-10A-01D-1696-08 g.chr2:27669199_27669200delAG c.4682_4683delCT c.(4681-4683)tctfs p.S1561fs GBMLGG 2 27670769 27670769 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr2:27670769C>A c.4449G>T c.(4447-4449)agG>agT p.R1483S GBMLGG 2 27676877 27676877 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:27676877C>A c.3683G>T c.(3682-3684)aGa>aTa p.R1228I GBMLGG 2 27682592 27682592 + Missense_Mutation SNP G G T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr2:27682592G>T c.2626C>A c.(2626-2628)Cac>Aac p.H876N GBMLGG 2 27688614 27688614 + Splice_Site SNP G G A TCGA-32-4208-01A-01D-1353-08 TCGA-32-4208-10A-01D-1353-08 g.chr2:27688614G>A c.1828C>T c.(1828-1830)Cgg>Tgg p.R610W GBMLGG 2 27688692 27688692 + Missense_Mutation SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr2:27688692C>G c.1750G>C c.(1750-1752)Ggt>Cgt p.G584R HNSC 2 27668659 27668659 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr2:27668659T>C c.4867A>G c.(4867-4869)Aca>Gca p.T1623A HNSC 2 27669129 27669130 + Frame_Shift_Ins INS - - GGCA TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr2:27669129_27669130insGGCA c.4752_4753insTGCC c.(4750-4755)gccaagfs p.K1585fs HNSC 2 27670397 27670397 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr2:27670397C>G c.4644G>C c.(4642-4644)caG>caC p.Q1548H HNSC 2 27676309 27676309 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr2:27676309C>A c.3893G>T c.(3892-3894)tGc>tTc p.C1298F HNSC 2 27677472 27677472 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr2:27677472C>T c.3427G>A c.(3427-3429)Gag>Aag p.E1143K HNSC 2 27680574 27680574 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr2:27680574C>T c.3160G>A c.(3160-3162)Gag>Aag p.E1054K HNSC 2 27680753 27680753 + Silent SNP C C T TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr2:27680753C>T c.3066G>A c.(3064-3066)aaG>aaA p.K1022K HNSC 2 27684212 27684212 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr2:27684212C>T c.2366G>A c.(2365-2367)cGa>cAa p.R789Q HNSC 2 27684340 27684340 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr2:27684340C>T c.2238G>A c.(2236-2238)tgG>tgA p.W746* HNSC 2 27685974 27685974 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr2:27685974G>T c.2012C>A c.(2011-2013)tCc>tAc p.S671Y HNSC 2 27695135 27695135 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr2:27695135G>A c.1506C>T c.(1504-1506)ttC>ttT p.F502F HNSC 2 27702428 27702428 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr2:27702428C>T c.953G>A c.(952-954)cGa>cAa p.R318Q HNSC 2 27706461 27706461 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr2:27706461C>T c.468G>A c.(466-468)gtG>gtA p.V156V HNSC 2 27712512 27712512 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr2:27712512C>T c.9G>A c.(7-9)ttG>ttA p.L3L KIPAN 2 27671791 27671791 + Silent SNP A A G TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr2:27671791A>G c.4419T>C c.(4417-4419)gcT>gcC p.A1473A KIPAN 2 27685657 27685657 + Nonsense_Mutation SNP C C A TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr2:27685657C>A c.2026G>T c.(2026-2028)Gga>Tga p.G676* KIPAN 2 27702392 27702392 + Missense_Mutation SNP T T A TCGA-KV-A6GD-01A-11D-A31X-10 TCGA-KV-A6GD-10A-01D-A31X-10 g.chr2:27702392T>A c.989A>T c.(988-990)tAt>tTt p.Y330F KIPAN 2 27702943 27702946 + Frame_Shift_Del DEL ATAA ATAA - TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr2:27702943_27702946delATAA c.856_859delTTAT c.(856-861)ttatacfs p.LY286fs KIPAN 2 27704017 27704017 + Missense_Mutation SNP G G T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr2:27704017G>T c.681C>A c.(679-681)caC>caA p.H227Q KIRC 2 27671791 27671791 + Silent SNP A A G TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr2:27671791A>G c.4419T>C c.(4417-4419)gcT>gcC p.A1473A KIRC 2 27702943 27702946 + Frame_Shift_Del DEL ATAA ATAA - TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr2:27702943_27702946delATAA c.856_859delTTAT c.(856-861)ttatacfs p.LY286fs KIRC 2 27704017 27704017 + Missense_Mutation SNP G G T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr2:27704017G>T c.681C>A c.(679-681)caC>caA p.H227Q KIRP 2 27685657 27685657 + Nonsense_Mutation SNP C C A TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr2:27685657C>A c.2026G>T c.(2026-2028)Gga>Tga p.G676* KIRP 2 27702392 27702392 + Missense_Mutation SNP T T A TCGA-KV-A6GD-01A-11D-A31X-10 TCGA-KV-A6GD-10A-01D-A31X-10 g.chr2:27702392T>A c.989A>T c.(988-990)tAt>tTt p.Y330F LGG 2 27676877 27676877 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:27676877C>A c.3683G>T c.(3682-3684)aGa>aTa p.R1228I LGG 2 27688692 27688692 + Missense_Mutation SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr2:27688692C>G c.1750G>C c.(1750-1752)Ggt>Cgt p.G584R LIHC 2 27668656 27668656 + Missense_Mutation SNP C C A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr2:27668656C>A c.4870G>T c.(4870-4872)Gac>Tac p.D1624Y LIHC 2 27679376 27679376 + Splice_Site SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:27679376A>G c.e30+1 LIHC 2 27679434 27679434 + Silent SNP T T C TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr2:27679434T>C c.3315A>G c.(3313-3315)agA>agG p.R1105R LIHC 2 27688641 27688641 + Missense_Mutation SNP T T G TCGA-EP-A26S-01A-11D-A16V-10 TCGA-EP-A26S-10A-01D-A16V-10 g.chr2:27688641T>G c.1801A>C c.(1801-1803)Aca>Cca p.T601P LIHC 2 27703934 27703934 + Missense_Mutation SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:27703934A>G c.764T>C c.(763-765)gTt>gCt p.V255A LIHC 2 27707958 27707958 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:27707958delA c.223delT c.(223-225)tctfs p.S75fs LUAD 2 27669194 27669194 + Nonsense_Mutation SNP G G C TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr2:27669194G>C c.4688C>G c.(4687-4689)tCa>tGa p.S1563* LUAD 2 27670707 27670707 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:27670707G>A c.4511C>T c.(4510-4512)gCt>gTt p.A1504V LUAD 2 27670717 27670717 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr2:27670717G>A c.4501C>T c.(4501-4503)Cat>Tat p.H1501Y LUAD 2 27676886 27676886 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr2:27676886C>T c.3674G>A c.(3673-3675)cGg>cAg p.R1225Q LUAD 2 27676911 27676911 + Nonsense_Mutation SNP G G A TCGA-MP-A4T6-01A-32D-A25L-08 TCGA-MP-A4T6-10A-01D-A25L-08 g.chr2:27676911G>A c.3649C>T c.(3649-3651)Cag>Tag p.Q1217* LUAD 2 27677520 27677520 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr2:27677520C>T c.3379G>A c.(3379-3381)Gaa>Aaa p.E1127K LUAD 2 27679435 27679435 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr2:27679435C>G c.3314G>C c.(3313-3315)aGa>aCa p.R1105T LUAD 2 27684242 27684242 + Missense_Mutation SNP G G C TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr2:27684242G>C c.2336C>G c.(2335-2337)cCt>cGt p.P779R LUAD 2 27688304 27688304 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:27688304C>A c.1911G>T c.(1909-1911)gaG>gaT p.E637D LUAD 2 27693878 27693878 + Missense_Mutation SNP C C T TCGA-MP-A4T6-01A-32D-A25L-08 TCGA-MP-A4T6-10A-01D-A25L-08 g.chr2:27693878C>T c.1609G>A c.(1609-1611)Gtg>Atg p.V537M LUAD 2 27699522 27699522 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:27699522T>C c.1397A>G c.(1396-1398)aAg>aGg p.K466R LUAD 2 27700895 27700895 + Silent SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr2:27700895C>A c.1134G>T c.(1132-1134)ctG>ctT p.L378L LUAD 2 27700939 27700939 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 g.chr2:27700939C>T c.1090G>A c.(1090-1092)Gga>Aga p.G364R LUAD 2 27700980 27700980 + Missense_Mutation SNP T T A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:27700980T>A c.1049A>T c.(1048-1050)aAg>aTg p.K350M LUAD 2 27703016 27703016 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr2:27703016C>A c.786G>T c.(784-786)agG>agT p.R262S LUAD 2 27703991 27703991 + Missense_Mutation SNP C C A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:27703991C>A c.707G>T c.(706-708)cGt>cTt p.R236L LUAD 2 27704107 27704107 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr2:27704107C>A c.591G>T c.(589-591)ccG>ccT p.P197P LUAD 2 27706212 27706212 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:27706212C>T c.514G>A c.(514-516)Gca>Aca p.A172T LUAD 2 27706463 27706463 + Missense_Mutation SNP C C A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr2:27706463C>A c.466G>T c.(466-468)Gtg>Ttg p.V156L LUAD 2 27707130 27707130 + Silent SNP A A T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr2:27707130A>T c.300T>A c.(298-300)ggT>ggA p.G100G LUAD 2 27707890 27707890 + Missense_Mutation SNP T T G TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr2:27707890T>G c.291A>C c.(289-291)gaA>gaC p.E97D LUAD 2 27707895 27707895 + Nonsense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:27707895C>A c.286G>T c.(286-288)Gga>Tga p.G96* LUAD 2 27708286 27708286 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr2:27708286G>T c.124C>A c.(124-126)Ctg>Atg p.L42M LUSC 2 27670407 27670407 + Missense_Mutation SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr2:27670407G>A c.4634C>T c.(4633-4635)tCt>tTt p.S1545F LUSC 2 27672642 27672642 + Missense_Mutation SNP T T C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr2:27672642T>C c.4076A>G c.(4075-4077)gAc>gGc p.D1359G LUSC 2 27676897 27676897 + Silent SNP C C T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr2:27676897C>T c.3663G>A c.(3661-3663)ggG>ggA p.G1221G LUSC 2 27684180 27684180 + Missense_Mutation SNP C C G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr2:27684180C>G c.2398G>C c.(2398-2400)Gaa>Caa p.E800Q LUSC 2 27700124 27700124 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr2:27700124C>A c.1285G>T c.(1285-1287)Ggt>Tgt p.G429C LUSC 2 27706745 27706745 + Missense_Mutation SNP T T A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr2:27706745T>A c.396A>T c.(394-396)gaA>gaT p.E132D OV 2 27701014 27701014 + Missense_Mutation SNP T T C TCGA-29-1778-01A-01W-0639-09 TCGA-29-1778-10A-01W-0639-09 g.chr2:27701014T>C c.1015A>G c.(1015-1017)Aag>Gag p.K339E OV 2 27708306 27708306 + Missense_Mutation SNP G G A TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr2:27708306G>A c.104C>T c.(103-105)aCa>aTa p.T35I PAAD 2 27670430 27670430 + Silent SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr2:27670430G>A c.4611C>T c.(4609-4611)atC>atT p.I1537I PAAD 2 27670790 27670790 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27670790C>A c.e41-1 PAAD 2 27677000 27677000 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27677000G>T c.3560C>A c.(3559-3561)gCt>gAt p.A1187D PAAD 2 27680845 27680845 + Splice_Site SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27680845T>C c.e28-2 PAAD 2 27684682 27684682 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27684682C>T c.2137G>A c.(2137-2139)Ggc>Agc p.G713S PAAD 2 27700888 27700888 + Frame_Shift_Del DEL C C - TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr2:27700888delC c.1141delG c.(1141-1143)gacfs p.D381fs PRAD 2 27669200 27669200 + Missense_Mutation SNP G G C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 g.chr2:27669200G>C c.4682C>G c.(4681-4683)tCt>tGt p.S1561C PRAD 2 27670411 27670411 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:27670411G>A c.4630C>T c.(4630-4632)Cgc>Tgc p.R1544C PRAD 2 27677277 27677277 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 g.chr2:27677277G>A c.3474C>T c.(3472-3474)ttC>ttT p.F1158F PRAD 2 27680743 27680756 + Frame_Shift_Del DEL CTGGATGGTGCTTC CTGGATGGTGCTTC - TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 g.chr2:27680743_27680756delCTGGATGGTGCTTC c.3063_3076delGAAGCACCATCCAG c.(3061-3078)gggaagcaccatccagatfs p.KHHPD1022fs PRAD 2 27682634 27682634 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 g.chr2:27682634C>T c.2584G>A c.(2584-2586)Gac>Aac p.D862N PRAD 2 27688651 27688651 + Silent SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr2:27688651G>A c.1791C>T c.(1789-1791)atC>atT p.I597I READ 2 27668234 27668234 + Missense_Mutation SNP T T C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:27668234T>C c.4997A>G c.(4996-4998)gAg>gGg p.E1666G READ 2 27684212 27684212 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:27684212C>T c.2366G>A c.(2365-2367)cGa>cAa p.R789Q SARC 2 27682296 27682296 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:27682296G>A c.2736C>T c.(2734-2736)tcC>tcT p.S912S SARC 2 27682297 27682297 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:27682297G>A c.2735C>T c.(2734-2736)tCc>tTc p.S912F SARC 2 27684174 27684174 + Missense_Mutation SNP T T C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 g.chr2:27684174T>C c.2404A>G c.(2404-2406)Atc>Gtc p.I802V SARC 2 27684264 27684264 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:27684264G>A c.2314C>T c.(2314-2316)Ctc>Ttc p.L772F SKCM 2 27667965 27667965 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:27667965G>A c.5076C>T c.(5074-5076)ccC>ccT p.P1692P SKCM 2 27667966 27667966 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:27667966G>A c.5075C>T c.(5074-5076)cCc>cTc p.P1692L SKCM 2 27672393 27672393 + Silent SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr2:27672393G>A c.4197C>T c.(4195-4197)ttC>ttT p.F1399F SKCM 2 27672907 27672907 + Silent SNP C C A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:27672907C>A c.4008G>T c.(4006-4008)ctG>ctT p.L1336L SKCM 2 27672913 27672913 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:27672913G>A c.4002C>T c.(4000-4002)gtC>gtT p.V1334V SKCM 2 27672935 27672935 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr2:27672935G>A c.3980C>T c.(3979-3981)cCt>cTt p.P1327L SKCM 2 27676352 27676352 + Nonsense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:27676352G>A c.3850C>T c.(3850-3852)Cga>Tga p.R1284* SKCM 2 27676565 27676565 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr2:27676565G>T c.3753C>A c.(3751-3753)gaC>gaA p.D1251E SKCM 2 27676933 27676933 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:27676933C>T c.3627G>A c.(3625-3627)ggG>ggA p.G1209G SKCM 2 27680737 27680737 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr2:27680737G>A c.3082C>T c.(3082-3084)Ctc>Ttc p.L1028F SKCM 2 27680767 27680767 + Missense_Mutation SNP G G C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:27680767G>C c.3052C>G c.(3052-3054)Cgc>Ggc p.R1018G SKCM 2 27681043 27681043 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:27681043G>A c.2925C>T c.(2923-2925)atC>atT p.I975I SKCM 2 27684212 27684212 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:27684212C>T c.2366G>A c.(2365-2367)cGa>cAa p.R789Q SKCM 2 27693801 27693801 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr2:27693801A>G c.1686T>C c.(1684-1686)acT>acC p.T562T SKCM 2 27699526 27699526 + Missense_Mutation SNP T T A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr2:27699526T>A c.1393A>T c.(1393-1395)Att>Ttt p.I465F SKCM 2 27699589 27699589 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:27699589G>A c.1330C>T c.(1330-1332)Cgt>Tgt p.R444C SKCM 2 27700134 27700134 + Silent SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr2:27700134A>G c.1275T>C c.(1273-1275)aaT>aaC p.N425N SKCM 2 27700155 27700155 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:27700155G>A c.1254C>T c.(1252-1254)acC>acT p.T418T SKCM 2 27700471 27700471 + Missense_Mutation SNP C C A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr2:27700471C>A c.1176G>T c.(1174-1176)tgG>tgT p.W392C SKCM 2 27700945 27700945 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr2:27700945T>C c.1084A>G c.(1084-1086)Atc>Gtc p.I362V SKCM 2 27703012 27703012 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:27703012G>A c.790C>T c.(790-792)Cgg>Tgg p.R264W SKCM 2 27706224 27706224 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr2:27706224G>A c.502C>T c.(502-504)Ctc>Ttc p.L168F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 27672558 27672558 single base substitution C T downstream_gene_variant BLCA-CN 2 27672558 27672558 single base substitution C T missense_variant R1387K 4160G>A BLCA-CN 2 27672558 27672558 single base substitution C T splice_region_variant BLCA-CN 2 27672558 27672558 single base substitution C T upstream_gene_variant BLCA-CN 2 27684356 27684356 single base substitution C T downstream_gene_variant BLCA-CN 2 27684356 27684356 single base substitution C T exon_variant BLCA-CN 2 27684356 27684356 single base substitution C T missense_variant R741H 2222G>A BLCA-CN 2 27684356 27684356 single base substitution C T upstream_gene_variant BLCA-CN 2 27717308 27717308 single base substitution C T upstream_gene_variant BLCA-US 2 27665507 27665507 single base substitution C T downstream_gene_variant BLCA-US 2 27666827 27666827 single base substitution G A downstream_gene_variant BLCA-US 2 27672643 27672643 single base substitution C A 3_prime_UTR_variant BLCA-US 2 27672643 27672643 single base substitution C A downstream_gene_variant BLCA-US 2 27672643 27672643 single base substitution C A exon_variant BLCA-US 2 27672643 27672643 single base substitution C A missense_variant D1359Y 4075G>T BLCA-US 2 27672643 27672643 single base substitution C A upstream_gene_variant BLCA-US 2 27676285 27676285 single base substitution C G downstream_gene_variant BLCA-US 2 27676285 27676285 single base substitution C G exon_variant BLCA-US 2 27676285 27676285 single base substitution C G missense_variant G1306A 3917G>C BLCA-US 2 27676285 27676285 single base substitution C G missense_variant G174A 521G>C BLCA-US 2 27700949 27700949 single base substitution C T exon_variant BLCA-US 2 27700949 27700949 single base substitution C T synonymous_variant V339V 1017G>A BLCA-US 2 27700949 27700949 single base substitution C T synonymous_variant V360V 1080G>A BLCA-US 2 27706492 27706492 single base substitution G C downstream_gene_variant BLCA-US 2 27706492 27706492 single base substitution G C exon_variant BLCA-US 2 27706492 27706492 single base substitution G C missense_variant S125C 374C>G BLCA-US 2 27706492 27706492 single base substitution G C missense_variant S146C 437C>G BOCA-UK 2 27704028 27704028 single base substitution T C downstream_gene_variant BOCA-UK 2 27704028 27704028 single base substitution T C exon_variant BOCA-UK 2 27704028 27704028 single base substitution T C intron_variant BOCA-UK 2 27704028 27704028 single base substitution T C missense_variant K203E 607A>G BOCA-UK 2 27704028 27704028 single base substitution T C missense_variant K224E 670A>G BRCA-EU 2 27662669 27662669 single base substitution C T downstream_gene_variant BRCA-EU 2 27662700 27662700 single base substitution A T downstream_gene_variant BRCA-EU 2 27666118 27666118 single base substitution G A downstream_gene_variant BRCA-EU 2 27666755 27666755 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 27666771 27666771 single base substitution C T downstream_gene_variant BRCA-EU 2 27666827 27666827 single base substitution G A downstream_gene_variant BRCA-EU 2 27668499 27668499 single base substitution G A downstream_gene_variant BRCA-EU 2 27668499 27668499 single base substitution G A intron_variant BRCA-EU 2 27668499 27668499 single base substitution G A splice_region_variant BRCA-EU 2 27668656 27668656 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 27668656 27668656 single base substitution C A downstream_gene_variant BRCA-EU 2 27668656 27668656 single base substitution C A exon_variant BRCA-EU 2 27668656 27668656 single base substitution C A intron_variant BRCA-EU 2 27668656 27668656 single base substitution C A missense_variant D1624Y 4870G>T BRCA-EU 2 27670992 27670992 single base substitution G T downstream_gene_variant BRCA-EU 2 27670992 27670992 single base substitution G T intron_variant BRCA-EU 2 27670992 27670992 single base substitution G T upstream_gene_variant BRCA-EU 2 27671988 27671988 single base substitution G A downstream_gene_variant BRCA-EU 2 27671988 27671988 single base substitution G A intron_variant BRCA-EU 2 27671988 27671988 single base substitution G A upstream_gene_variant BRCA-EU 2 27672824 27672824 single base substitution C G downstream_gene_variant BRCA-EU 2 27672824 27672824 single base substitution C G intron_variant BRCA-EU 2 27672824 27672824 single base substitution C G upstream_gene_variant BRCA-EU 2 27673144 27673144 single base substitution C A downstream_gene_variant BRCA-EU 2 27673144 27673144 single base substitution C A intron_variant BRCA-EU 2 27673144 27673144 single base substitution C A upstream_gene_variant BRCA-EU 2 27673284 27673284 single base substitution G C downstream_gene_variant BRCA-EU 2 27673284 27673284 single base substitution G C intron_variant BRCA-EU 2 27673284 27673284 single base substitution G C upstream_gene_variant BRCA-EU 2 27675140 27675140 single base substitution C T downstream_gene_variant BRCA-EU 2 27675140 27675140 single base substitution C T intron_variant BRCA-EU 2 27675140 27675140 single base substitution C T upstream_gene_variant BRCA-EU 2 27675857 27675857 single base substitution A C downstream_gene_variant BRCA-EU 2 27675857 27675857 single base substitution A C intron_variant BRCA-EU 2 27676109 27676109 single base substitution C G downstream_gene_variant BRCA-EU 2 27676109 27676109 single base substitution C G exon_variant BRCA-EU 2 27676109 27676109 single base substitution C G intron_variant BRCA-EU 2 27676109 27676109 single base substitution C G missense_variant G195A 584G>C BRCA-EU 2 27677530 27677530 single base substitution G T downstream_gene_variant BRCA-EU 2 27677530 27677530 single base substitution G T splice_region_variant BRCA-EU 2 27677530 27677530 single base substitution G T upstream_gene_variant BRCA-EU 2 27678017 27678017 single base substitution G A downstream_gene_variant BRCA-EU 2 27678017 27678017 single base substitution G A intron_variant BRCA-EU 2 27678017 27678017 single base substitution G A upstream_gene_variant BRCA-EU 2 27678571 27678571 single base substitution C G downstream_gene_variant BRCA-EU 2 27678571 27678571 single base substitution C G intron_variant BRCA-EU 2 27678571 27678571 single base substitution C G upstream_gene_variant BRCA-EU 2 27679309 27679309 single base substitution C A downstream_gene_variant BRCA-EU 2 27679309 27679309 single base substitution C A intron_variant BRCA-EU 2 27679309 27679309 single base substitution C A upstream_gene_variant BRCA-EU 2 27680408 27680408 single base substitution C T downstream_gene_variant BRCA-EU 2 27680408 27680408 single base substitution C T intron_variant BRCA-EU 2 27680408 27680408 single base substitution C T upstream_gene_variant BRCA-EU 2 27681323 27681323 single base substitution T A intron_variant BRCA-EU 2 27681323 27681323 single base substitution T A upstream_gene_variant BRCA-EU 2 27684841 27684841 single base substitution G C downstream_gene_variant BRCA-EU 2 27684841 27684841 single base substitution G C intron_variant BRCA-EU 2 27684841 27684841 single base substitution G C upstream_gene_variant BRCA-EU 2 27685748 27685748 single base substitution G C downstream_gene_variant BRCA-EU 2 27685748 27685748 single base substitution G C intron_variant BRCA-EU 2 27685748 27685748 single base substitution G C upstream_gene_variant BRCA-EU 2 27686347 27686347 single base substitution T C downstream_gene_variant BRCA-EU 2 27686347 27686347 single base substitution T C intron_variant BRCA-EU 2 27686347 27686347 single base substitution T C upstream_gene_variant BRCA-EU 2 27686484 27686484 single base substitution G A downstream_gene_variant BRCA-EU 2 27686484 27686484 single base substitution G A intron_variant BRCA-EU 2 27686484 27686484 single base substitution G A upstream_gene_variant BRCA-EU 2 27687197 27687197 single base substitution C T downstream_gene_variant BRCA-EU 2 27687197 27687197 single base substitution C T intron_variant BRCA-EU 2 27687364 27687364 single base substitution C A downstream_gene_variant BRCA-EU 2 27687364 27687364 single base substitution C A intron_variant BRCA-EU 2 27689784 27689784 single base substitution G A downstream_gene_variant BRCA-EU 2 27689784 27689784 single base substitution G A intron_variant BRCA-EU 2 27689784 27689784 single base substitution G A upstream_gene_variant BRCA-EU 2 27690014 27690014 single base substitution G T downstream_gene_variant BRCA-EU 2 27690014 27690014 single base substitution G T intron_variant BRCA-EU 2 27690014 27690014 single base substitution G T upstream_gene_variant BRCA-EU 2 27690076 27690076 single base substitution C G downstream_gene_variant BRCA-EU 2 27690076 27690076 single base substitution C G intron_variant BRCA-EU 2 27690076 27690076 single base substitution C G upstream_gene_variant BRCA-EU 2 27690881 27690881 single base substitution G A downstream_gene_variant BRCA-EU 2 27690881 27690881 single base substitution G A intron_variant BRCA-EU 2 27690881 27690881 single base substitution G A upstream_gene_variant BRCA-EU 2 27692435 27692435 single base substitution A G downstream_gene_variant BRCA-EU 2 27692435 27692435 single base substitution A G intron_variant BRCA-EU 2 27692435 27692435 single base substitution A G upstream_gene_variant BRCA-EU 2 27693199 27693199 single base substitution A G downstream_gene_variant BRCA-EU 2 27693199 27693199 single base substitution A G intron_variant BRCA-EU 2 27693199 27693199 single base substitution A G upstream_gene_variant BRCA-EU 2 27693493 27693493 single base substitution G C downstream_gene_variant BRCA-EU 2 27693493 27693493 single base substitution G C intron_variant BRCA-EU 2 27693493 27693493 single base substitution G C upstream_gene_variant BRCA-EU 2 27693572 27693572 single base substitution G T downstream_gene_variant BRCA-EU 2 27693572 27693572 single base substitution G T intron_variant BRCA-EU 2 27693572 27693572 single base substitution G T upstream_gene_variant BRCA-EU 2 27694464 27694464 single base substitution A G downstream_gene_variant BRCA-EU 2 27694464 27694464 single base substitution A G intron_variant BRCA-EU 2 27694464 27694464 single base substitution A G upstream_gene_variant BRCA-EU 2 27696067 27696067 single base substitution C T intron_variant BRCA-EU 2 27696067 27696067 single base substitution C T upstream_gene_variant BRCA-EU 2 27696080 27696080 deletion of <=200bp A - intron_variant BRCA-EU 2 27696080 27696080 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 27696457 27696457 single base substitution G A intron_variant BRCA-EU 2 27696457 27696457 single base substitution G A upstream_gene_variant BRCA-EU 2 27699505 27699505 single base substitution C G splice_region_variant BRCA-EU 2 27702903 27702903 single base substitution C T downstream_gene_variant BRCA-EU 2 27702903 27702903 single base substitution C T exon_variant BRCA-EU 2 27702903 27702903 single base substitution C T missense_variant R279Q 836G>A BRCA-EU 2 27702903 27702903 single base substitution C T missense_variant R300Q 899G>A BRCA-EU 2 27703631 27703631 single base substitution G C downstream_gene_variant BRCA-EU 2 27703631 27703631 single base substitution G C intron_variant BRCA-EU 2 27704067 27704067 single base substitution C T downstream_gene_variant BRCA-EU 2 27704067 27704067 single base substitution C T exon_variant BRCA-EU 2 27704067 27704067 single base substitution C T intron_variant BRCA-EU 2 27704067 27704067 single base substitution C T missense_variant V190M 568G>A BRCA-EU 2 27704067 27704067 single base substitution C T missense_variant V211M 631G>A BRCA-EU 2 27705326 27705326 single base substitution A T downstream_gene_variant BRCA-EU 2 27705326 27705326 single base substitution A T intron_variant BRCA-EU 2 27706738 27706738 single base substitution C A downstream_gene_variant BRCA-EU 2 27706738 27706738 single base substitution C A splice_donor_variant BRCA-EU 2 27707760 27707760 single base substitution A T intron_variant BRCA-EU 2 27708008 27708008 single base substitution A T intron_variant BRCA-EU 2 27708874 27708874 single base substitution C A intron_variant BRCA-EU 2 27709220 27709220 single base substitution G C intron_variant BRCA-EU 2 27709996 27709996 single base substitution G C intron_variant BRCA-EU 2 27710072 27710072 single base substitution G A intron_variant BRCA-EU 2 27711340 27711340 single base substitution C A intron_variant BRCA-EU 2 27711566 27711566 single base substitution C T intron_variant BRCA-EU 2 27712373 27712373 single base substitution C G intron_variant BRCA-EU 2 27712611 27712611 single base substitution G A 5_prime_UTR_variant BRCA-EU 2 27712611 27712611 single base substitution G A exon_variant BRCA-EU 2 27712611 27712611 single base substitution G A upstream_gene_variant BRCA-EU 2 27713423 27713425 deletion of <=200bp TTG - upstream_gene_variant BRCA-EU 2 27713441 27713441 single base substitution T C upstream_gene_variant BRCA-EU 2 27714362 27714362 single base substitution C T upstream_gene_variant BRCA-EU 2 27714746 27714746 single base substitution C G upstream_gene_variant BRCA-EU 2 27716312 27716312 single base substitution C T upstream_gene_variant BRCA-EU 2 27716370 27716370 single base substitution A T upstream_gene_variant BRCA-EU 2 27717145 27717145 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 27717193 27717193 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 27717321 27717321 single base substitution G A upstream_gene_variant BRCA-FR 2 27666771 27666771 single base substitution C T downstream_gene_variant BRCA-FR 2 27678571 27678571 single base substitution C G downstream_gene_variant BRCA-FR 2 27678571 27678571 single base substitution C G intron_variant BRCA-FR 2 27678571 27678571 single base substitution C G upstream_gene_variant BRCA-FR 2 27679309 27679309 single base substitution C A downstream_gene_variant BRCA-FR 2 27679309 27679309 single base substitution C A intron_variant BRCA-FR 2 27679309 27679309 single base substitution C A upstream_gene_variant BRCA-FR 2 27692152 27692152 single base substitution C G downstream_gene_variant BRCA-FR 2 27692152 27692152 single base substitution C G intron_variant BRCA-FR 2 27692152 27692152 single base substitution C G upstream_gene_variant BRCA-FR 2 27702221 27702221 single base substitution C T downstream_gene_variant BRCA-FR 2 27702221 27702221 single base substitution C T intron_variant BRCA-KR 2 27663224 27663224 single base substitution A G downstream_gene_variant BRCA-UK 2 27669866 27669866 single base substitution A C downstream_gene_variant BRCA-UK 2 27669866 27669866 single base substitution A C intron_variant BRCA-UK 2 27669866 27669866 single base substitution A C upstream_gene_variant BRCA-UK 2 27685748 27685748 single base substitution G C downstream_gene_variant BRCA-UK 2 27685748 27685748 single base substitution G C intron_variant BRCA-UK 2 27685748 27685748 single base substitution G C upstream_gene_variant BRCA-UK 2 27694464 27694464 single base substitution A G downstream_gene_variant BRCA-UK 2 27694464 27694464 single base substitution A G intron_variant BRCA-UK 2 27694464 27694464 single base substitution A G upstream_gene_variant BRCA-UK 2 27712611 27712611 single base substitution G A 5_prime_UTR_variant BRCA-UK 2 27712611 27712611 single base substitution G A exon_variant BRCA-UK 2 27712611 27712611 single base substitution G A upstream_gene_variant BRCA-UK 2 27713441 27713441 single base substitution T C upstream_gene_variant BRCA-US 2 27663559 27663559 single base substitution G C downstream_gene_variant BRCA-US 2 27663995 27663995 single base substitution T G downstream_gene_variant BRCA-US 2 27664625 27664625 single base substitution C T downstream_gene_variant BRCA-US 2 27667302 27667302 single base substitution C A 3_prime_UTR_variant BRCA-US 2 27667302 27667302 single base substitution C A downstream_gene_variant BRCA-US 2 27667302 27667302 single base substitution C A exon_variant BRCA-US 2 27667302 27667302 single base substitution C A missense_variant Q1749H 5247G>T BRCA-US 2 27668692 27668692 single base substitution G A 3_prime_UTR_variant BRCA-US 2 27668692 27668692 single base substitution G A downstream_gene_variant BRCA-US 2 27668692 27668692 single base substitution G A exon_variant BRCA-US 2 27668692 27668692 single base substitution G A intron_variant BRCA-US 2 27668692 27668692 single base substitution G A synonymous_variant L1612L 4834C>T BRCA-US 2 27672430 27672430 single base substitution C A downstream_gene_variant BRCA-US 2 27672430 27672430 single base substitution C A splice_acceptor_variant BRCA-US 2 27672430 27672430 single base substitution C A upstream_gene_variant BRCA-US 2 27672601 27672601 single base substitution C G 3_prime_UTR_variant BRCA-US 2 27672601 27672601 single base substitution C G downstream_gene_variant BRCA-US 2 27672601 27672601 single base substitution C G exon_variant BRCA-US 2 27672601 27672601 single base substitution C G missense_variant E1373Q 4117G>C BRCA-US 2 27672601 27672601 single base substitution C G upstream_gene_variant BRCA-US 2 27672946 27672946 single base substitution G C 3_prime_UTR_variant BRCA-US 2 27672946 27672946 single base substitution G C downstream_gene_variant BRCA-US 2 27672946 27672946 single base substitution G C exon_variant BRCA-US 2 27672946 27672946 single base substitution G C missense_variant I1323M 3969C>G BRCA-US 2 27672946 27672946 single base substitution G C upstream_gene_variant BRCA-US 2 27688295 27688295 single base substitution T C exon_variant BRCA-US 2 27688295 27688295 single base substitution T C synonymous_variant Q640Q 1920A>G BRCA-US 2 27699513 27699513 single base substitution G T exon_variant BRCA-US 2 27699513 27699513 single base substitution G T missense_variant A448D 1343C>A BRCA-US 2 27699513 27699513 single base substitution G T missense_variant A469D 1406C>A BRCA-US 2 27700150 27700150 single base substitution A C exon_variant BRCA-US 2 27700150 27700150 single base substitution A C missense_variant V399G 1196T>G BRCA-US 2 27700150 27700150 single base substitution A C missense_variant V420G 1259T>G BRCA-US 2 27700950 27700950 single base substitution A C exon_variant BRCA-US 2 27700950 27700950 single base substitution A C missense_variant V339G 1016T>G BRCA-US 2 27700950 27700950 single base substitution A C missense_variant V360G 1079T>G BRCA-US 2 27700959 27700959 single base substitution A C exon_variant BRCA-US 2 27700959 27700959 single base substitution A C missense_variant V336G 1007T>G BRCA-US 2 27700959 27700959 single base substitution A C missense_variant V357G 1070T>G BRCA-US 2 27706176 27706176 single base substitution C A downstream_gene_variant BRCA-US 2 27706176 27706176 single base substitution C A exon_variant BRCA-US 2 27706176 27706176 single base substitution C A stop_gained E163* 487G>T BRCA-US 2 27706176 27706176 single base substitution C A stop_gained E184* 550G>T BRCA-US 2 27707103 27707103 single base substitution G A exon_variant BRCA-US 2 27707103 27707103 single base substitution G A synonymous_variant F109F 327C>T BRCA-US 2 27707103 27707103 single base substitution G A synonymous_variant F88F 264C>T BRCA-US 2 27707130 27707130 single base substitution A C exon_variant BRCA-US 2 27707130 27707130 single base substitution A C synonymous_variant G100G 300T>G BRCA-US 2 27707130 27707130 single base substitution A C synonymous_variant G79G 237T>G BRCA-US 2 27716326 27716326 single base substitution A C upstream_gene_variant BRCA-US 2 27717516 27717516 insertion of <=200bp - G upstream_gene_variant BTCA-JP 2 27664552 27664552 single base substitution C T downstream_gene_variant BTCA-JP 2 27664691 27664691 single base substitution G A downstream_gene_variant BTCA-JP 2 27667788 27667788 single base substitution T G downstream_gene_variant BTCA-JP 2 27667788 27667788 single base substitution T G intron_variant BTCA-JP 2 27667819 27667819 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 27667819 27667819 deletion of <=200bp T - intron_variant BTCA-JP 2 27669376 27669376 single base substitution C T downstream_gene_variant BTCA-JP 2 27669376 27669376 single base substitution C T intron_variant BTCA-JP 2 27669376 27669376 single base substitution C T upstream_gene_variant BTCA-JP 2 27672676 27672676 single base substitution T A downstream_gene_variant BTCA-JP 2 27672676 27672676 single base substitution T A intron_variant BTCA-JP 2 27672676 27672676 single base substitution T A upstream_gene_variant BTCA-JP 2 27672737 27672737 single base substitution C T downstream_gene_variant BTCA-JP 2 27672737 27672737 single base substitution C T intron_variant BTCA-JP 2 27672737 27672737 single base substitution C T upstream_gene_variant BTCA-JP 2 27680937 27680937 single base substitution C T exon_variant BTCA-JP 2 27680937 27680937 single base substitution C T intron_variant BTCA-JP 2 27680937 27680937 single base substitution C T upstream_gene_variant BTCA-JP 2 27706805 27706805 single base substitution C T exon_variant BTCA-JP 2 27706805 27706805 single base substitution C T splice_acceptor_variant CESC-US 2 27663526 27663526 single base substitution C G downstream_gene_variant CESC-US 2 27669207 27669207 single base substitution T C 3_prime_UTR_variant CESC-US 2 27669207 27669207 single base substitution T C downstream_gene_variant CESC-US 2 27669207 27669207 single base substitution T C exon_variant CESC-US 2 27669207 27669207 single base substitution T C missense_variant R1559G 4675A>G CESC-US 2 27669207 27669207 single base substitution T C upstream_gene_variant CESC-US 2 27679448 27679448 single base substitution C T downstream_gene_variant CESC-US 2 27679448 27679448 single base substitution C T exon_variant CESC-US 2 27679448 27679448 single base substitution C T missense_variant E1101K 3301G>A CESC-US 2 27679448 27679448 single base substitution C T upstream_gene_variant CESC-US 2 27680517 27680517 single base substitution C G downstream_gene_variant CESC-US 2 27680517 27680517 single base substitution C G exon_variant CESC-US 2 27680517 27680517 single base substitution C G missense_variant E1073Q 3217G>C CESC-US 2 27680517 27680517 single base substitution C G upstream_gene_variant CESC-US 2 27684268 27684268 single base substitution G A downstream_gene_variant CESC-US 2 27684268 27684268 single base substitution G A exon_variant CESC-US 2 27684268 27684268 single base substitution G A synonymous_variant I770I 2310C>T CESC-US 2 27684268 27684268 single base substitution G A upstream_gene_variant CESC-US 2 27700992 27700992 single base substitution C T exon_variant CESC-US 2 27700992 27700992 single base substitution C T missense_variant R325Q 974G>A CESC-US 2 27700992 27700992 single base substitution C T missense_variant R346Q 1037G>A CESC-US 2 27708261 27708261 single base substitution C T exon_variant CESC-US 2 27708261 27708261 single base substitution C T missense_variant R29K 86G>A CESC-US 2 27708261 27708261 single base substitution C T missense_variant R50K 149G>A CESC-US 2 27717491 27717491 single base substitution G A upstream_gene_variant CLLE-ES 2 27704788 27704788 single base substitution C T downstream_gene_variant CLLE-ES 2 27704788 27704788 single base substitution C T intron_variant CLLE-ES 2 27710628 27710628 single base substitution T A intron_variant COAD-US 2 27662673 27662673 single base substitution G A downstream_gene_variant COAD-US 2 27663325 27663325 single base substitution C A downstream_gene_variant COAD-US 2 27663553 27663553 single base substitution T G downstream_gene_variant COAD-US 2 27663739 27663739 single base substitution A G downstream_gene_variant COAD-US 2 27663746 27663746 single base substitution C A downstream_gene_variant COAD-US 2 27664047 27664047 single base substitution C T downstream_gene_variant COAD-US 2 27666007 27666009 deletion of <=200bp CTT - downstream_gene_variant COAD-US 2 27668181 27668181 single base substitution G T 3_prime_UTR_variant COAD-US 2 27668181 27668181 single base substitution G T downstream_gene_variant COAD-US 2 27668181 27668181 single base substitution G T exon_variant COAD-US 2 27668181 27668181 single base substitution G T missense_variant L1684M 5050C>A COAD-US 2 27677000 27677000 single base substitution G A downstream_gene_variant COAD-US 2 27677000 27677000 single base substitution G A exon_variant COAD-US 2 27677000 27677000 single base substitution G A missense_variant A1187V 3560C>T COAD-US 2 27677000 27677000 single base substitution G A missense_variant A55V 164C>T COAD-US 2 27677000 27677000 single base substitution G A upstream_gene_variant COAD-US 2 27677472 27677472 single base substitution C T downstream_gene_variant COAD-US 2 27677472 27677472 single base substitution C T exon_variant COAD-US 2 27677472 27677472 single base substitution C T missense_variant E1143K 3427G>A COAD-US 2 27677472 27677472 single base substitution C T missense_variant E11K 31G>A COAD-US 2 27677472 27677472 single base substitution C T upstream_gene_variant COAD-US 2 27677499 27677499 single base substitution G A downstream_gene_variant COAD-US 2 27677499 27677499 single base substitution G A exon_variant COAD-US 2 27677499 27677499 single base substitution G A missense_variant R1134W 3400C>T COAD-US 2 27677499 27677499 single base substitution G A missense_variant R2W 4C>T COAD-US 2 27677499 27677499 single base substitution G A upstream_gene_variant COAD-US 2 27677525 27677525 single base substitution G A downstream_gene_variant COAD-US 2 27677525 27677525 single base substitution G A missense_variant S1125F 3374C>T COAD-US 2 27677525 27677525 single base substitution G A splice_region_variant COAD-US 2 27677525 27677525 single base substitution G A upstream_gene_variant COAD-US 2 27681689 27681689 single base substitution A G exon_variant COAD-US 2 27681689 27681689 single base substitution A G missense_variant I945T 2834T>C COAD-US 2 27681689 27681689 single base substitution A G upstream_gene_variant COAD-US 2 27682309 27682309 single base substitution C T exon_variant COAD-US 2 27682309 27682309 single base substitution C T missense_variant R908Q 2723G>A COAD-US 2 27682309 27682309 single base substitution C T upstream_gene_variant COAD-US 2 27684360 27684360 single base substitution G A downstream_gene_variant COAD-US 2 27684360 27684360 single base substitution G A exon_variant COAD-US 2 27684360 27684360 single base substitution G A missense_variant R740C 2218C>T COAD-US 2 27684360 27684360 single base substitution G A upstream_gene_variant COAD-US 2 27702969 27702969 single base substitution G C downstream_gene_variant COAD-US 2 27702969 27702969 single base substitution G C exon_variant COAD-US 2 27702969 27702969 single base substitution G C missense_variant A257G 770C>G COAD-US 2 27702969 27702969 single base substitution G C missense_variant A278G 833C>G COAD-US 2 27708371 27708371 single base substitution C A splice_acceptor_variant COAD-US 2 27717458 27717458 single base substitution G A upstream_gene_variant COAD-US 2 27717516 27717516 insertion of <=200bp - G upstream_gene_variant COAD-US 2 27717517 27717517 deletion of <=200bp G - upstream_gene_variant COCA-CN 2 27663175 27663175 single base substitution C A downstream_gene_variant COCA-CN 2 27665752 27665752 single base substitution T G downstream_gene_variant COCA-CN 2 27666976 27666976 single base substitution A C downstream_gene_variant COCA-CN 2 27667790 27667790 single base substitution A G downstream_gene_variant COCA-CN 2 27667790 27667790 single base substitution A G intron_variant COCA-CN 2 27667900 27667900 single base substitution T G 3_prime_UTR_variant COCA-CN 2 27667900 27667900 single base substitution T G downstream_gene_variant COCA-CN 2 27667900 27667900 single base substitution T G exon_variant COCA-CN 2 27667900 27667900 single base substitution T G missense_variant K1714T 5141A>C COCA-CN 2 27668098 27668098 single base substitution T G downstream_gene_variant COCA-CN 2 27668098 27668098 single base substitution T G intron_variant COCA-CN 2 27669376 27669376 single base substitution C T downstream_gene_variant COCA-CN 2 27669376 27669376 single base substitution C T intron_variant COCA-CN 2 27669376 27669376 single base substitution C T upstream_gene_variant COCA-CN 2 27669377 27669377 single base substitution T C downstream_gene_variant COCA-CN 2 27669377 27669377 single base substitution T C intron_variant COCA-CN 2 27669377 27669377 single base substitution T C upstream_gene_variant COCA-CN 2 27670396 27670396 single base substitution T C 3_prime_UTR_variant COCA-CN 2 27670396 27670396 single base substitution T C downstream_gene_variant COCA-CN 2 27670396 27670396 single base substitution T C exon_variant COCA-CN 2 27670396 27670396 single base substitution T C missense_variant S1549G 4645A>G COCA-CN 2 27670396 27670396 single base substitution T C upstream_gene_variant COCA-CN 2 27670685 27670685 single base substitution G T downstream_gene_variant COCA-CN 2 27670685 27670685 single base substitution G T exon_variant COCA-CN 2 27670685 27670685 single base substitution G T missense_variant F1511L 4533C>A COCA-CN 2 27670685 27670685 single base substitution G T upstream_gene_variant COCA-CN 2 27672926 27672926 single base substitution C T 3_prime_UTR_variant COCA-CN 2 27672926 27672926 single base substitution C T downstream_gene_variant COCA-CN 2 27672926 27672926 single base substitution C T exon_variant COCA-CN 2 27672926 27672926 single base substitution C T missense_variant R1330H 3989G>A COCA-CN 2 27672926 27672926 single base substitution C T upstream_gene_variant COCA-CN 2 27676149 27676149 single base substitution G T downstream_gene_variant COCA-CN 2 27676149 27676149 single base substitution G T intron_variant COCA-CN 2 27677277 27677277 single base substitution G A downstream_gene_variant COCA-CN 2 27677277 27677277 single base substitution G A exon_variant COCA-CN 2 27677277 27677277 single base substitution G A synonymous_variant F1158F 3474C>T COCA-CN 2 27677277 27677277 single base substitution G A synonymous_variant F26F 78C>T COCA-CN 2 27677277 27677277 single base substitution G A upstream_gene_variant COCA-CN 2 27677668 27677668 single base substitution C T downstream_gene_variant COCA-CN 2 27677668 27677668 single base substitution C T intron_variant COCA-CN 2 27677668 27677668 single base substitution C T upstream_gene_variant COCA-CN 2 27677691 27677691 single base substitution G A downstream_gene_variant COCA-CN 2 27677691 27677691 single base substitution G A intron_variant COCA-CN 2 27677691 27677691 single base substitution G A upstream_gene_variant COCA-CN 2 27679402 27679402 single base substitution G T downstream_gene_variant COCA-CN 2 27679402 27679402 single base substitution G T exon_variant COCA-CN 2 27679402 27679402 single base substitution G T missense_variant A1116D 3347C>A COCA-CN 2 27679402 27679402 single base substitution G T upstream_gene_variant COCA-CN 2 27683757 27683757 single base substitution T C downstream_gene_variant COCA-CN 2 27683757 27683757 single base substitution T C intron_variant COCA-CN 2 27683757 27683757 single base substitution T C upstream_gene_variant COCA-CN 2 27684005 27684005 single base substitution G T downstream_gene_variant COCA-CN 2 27684005 27684005 single base substitution G T intron_variant COCA-CN 2 27684005 27684005 single base substitution G T upstream_gene_variant COCA-CN 2 27685604 27685604 single base substitution C A downstream_gene_variant COCA-CN 2 27685604 27685604 single base substitution C A exon_variant COCA-CN 2 27685604 27685604 single base substitution C A missense_variant K693N 2079G>T COCA-CN 2 27685604 27685604 single base substitution C A upstream_gene_variant COCA-CN 2 27688767 27688767 single base substitution C A downstream_gene_variant COCA-CN 2 27688767 27688767 single base substitution C A exon_variant COCA-CN 2 27688767 27688767 single base substitution C A intron_variant COCA-CN 2 27693879 27693879 single base substitution G A downstream_gene_variant COCA-CN 2 27693879 27693879 single base substitution G A exon_variant COCA-CN 2 27693879 27693879 single base substitution G A synonymous_variant D536D 1608C>T COCA-CN 2 27693879 27693879 single base substitution G A upstream_gene_variant COCA-CN 2 27699673 27699673 single base substitution G T exon_variant COCA-CN 2 27699673 27699673 single base substitution G T intron_variant COCA-CN 2 27700067 27700067 single base substitution G T exon_variant COCA-CN 2 27700067 27700067 single base substitution G T intron_variant COCA-CN 2 27702980 27702980 single base substitution G T downstream_gene_variant COCA-CN 2 27702980 27702980 single base substitution G T exon_variant COCA-CN 2 27702980 27702980 single base substitution G T synonymous_variant I253I 759C>A COCA-CN 2 27702980 27702980 single base substitution G T synonymous_variant I274I 822C>A COCA-CN 2 27708013 27708013 single base substitution A T intron_variant COCA-CN 2 27715261 27715261 single base substitution C T upstream_gene_variant COCA-CN 2 27715466 27715466 single base substitution C A upstream_gene_variant COCA-CN 2 27715852 27715852 single base substitution A C upstream_gene_variant COCA-CN 2 27716990 27716990 single base substitution G A upstream_gene_variant EOPC-DE 2 27682584 27682584 single base substitution G A exon_variant EOPC-DE 2 27682584 27682584 single base substitution G A synonymous_variant I878I 2634C>T EOPC-DE 2 27682584 27682584 single base substitution G A upstream_gene_variant EOPC-DE 2 27687737 27687737 single base substitution G A downstream_gene_variant EOPC-DE 2 27687737 27687737 single base substitution G A intron_variant ESAD-UK 2 27674847 27674848 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 2 27674847 27674848 deletion of <=200bp TG - intron_variant ESAD-UK 2 27674847 27674848 deletion of <=200bp TG - upstream_gene_variant ESAD-UK 2 27675722 27675722 single base substitution T C downstream_gene_variant ESAD-UK 2 27675722 27675722 single base substitution T C intron_variant ESAD-UK 2 27675722 27675722 single base substitution T C upstream_gene_variant ESAD-UK 2 27677105 27677105 single base substitution C T downstream_gene_variant ESAD-UK 2 27677105 27677105 single base substitution C T intron_variant ESAD-UK 2 27677105 27677105 single base substitution C T upstream_gene_variant ESAD-UK 2 27677583 27677583 single base substitution G C downstream_gene_variant ESAD-UK 2 27677583 27677583 single base substitution G C intron_variant ESAD-UK 2 27677583 27677583 single base substitution G C upstream_gene_variant ESAD-UK 2 27677981 27677981 single base substitution G C downstream_gene_variant ESAD-UK 2 27677981 27677981 single base substitution G C intron_variant ESAD-UK 2 27677981 27677981 single base substitution G C upstream_gene_variant ESAD-UK 2 27679813 27679813 single base substitution G A downstream_gene_variant ESAD-UK 2 27679813 27679813 single base substitution G A intron_variant ESAD-UK 2 27679813 27679813 single base substitution G A upstream_gene_variant ESAD-UK 2 27685089 27685089 single base substitution T C downstream_gene_variant ESAD-UK 2 27685089 27685089 single base substitution T C intron_variant ESAD-UK 2 27685089 27685089 single base substitution T C upstream_gene_variant ESAD-UK 2 27685904 27685904 single base substitution G A downstream_gene_variant ESAD-UK 2 27685904 27685904 single base substitution G A intron_variant ESAD-UK 2 27685904 27685904 single base substitution G A upstream_gene_variant ESAD-UK 2 27686132 27686132 single base substitution G A downstream_gene_variant ESAD-UK 2 27686132 27686132 single base substitution G A intron_variant ESAD-UK 2 27686132 27686132 single base substitution G A upstream_gene_variant ESAD-UK 2 27688223 27688223 single base substitution C G exon_variant ESAD-UK 2 27688223 27688223 single base substitution C G intron_variant ESAD-UK 2 27688959 27688959 single base substitution C T downstream_gene_variant ESAD-UK 2 27688959 27688959 single base substitution C T intron_variant ESAD-UK 2 27688959 27688959 single base substitution C T upstream_gene_variant ESAD-UK 2 27689137 27689137 single base substitution C A downstream_gene_variant ESAD-UK 2 27689137 27689137 single base substitution C A intron_variant ESAD-UK 2 27689137 27689137 single base substitution C A upstream_gene_variant ESAD-UK 2 27689758 27689758 single base substitution C A downstream_gene_variant ESAD-UK 2 27689758 27689758 single base substitution C A intron_variant ESAD-UK 2 27689758 27689758 single base substitution C A upstream_gene_variant ESAD-UK 2 27689996 27689996 single base substitution A T downstream_gene_variant ESAD-UK 2 27689996 27689996 single base substitution A T intron_variant ESAD-UK 2 27689996 27689996 single base substitution A T upstream_gene_variant ESAD-UK 2 27690735 27690735 single base substitution T A downstream_gene_variant ESAD-UK 2 27690735 27690735 single base substitution T A intron_variant ESAD-UK 2 27690735 27690735 single base substitution T A upstream_gene_variant ESAD-UK 2 27691346 27691346 single base substitution C G downstream_gene_variant ESAD-UK 2 27691346 27691346 single base substitution C G intron_variant ESAD-UK 2 27691346 27691346 single base substitution C G upstream_gene_variant ESAD-UK 2 27692158 27692158 single base substitution G A downstream_gene_variant ESAD-UK 2 27692158 27692158 single base substitution G A intron_variant ESAD-UK 2 27692158 27692158 single base substitution G A upstream_gene_variant ESAD-UK 2 27694688 27694688 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 27694688 27694688 single base substitution G T downstream_gene_variant ESAD-UK 2 27694688 27694688 single base substitution G T intron_variant ESAD-UK 2 27694688 27694688 single base substitution G T upstream_gene_variant ESAD-UK 2 27695319 27695319 single base substitution G A intron_variant ESAD-UK 2 27695319 27695319 single base substitution G A upstream_gene_variant ESAD-UK 2 27696031 27696031 single base substitution G C intron_variant ESAD-UK 2 27696031 27696031 single base substitution G C upstream_gene_variant ESAD-UK 2 27696536 27696536 single base substitution G A intron_variant ESAD-UK 2 27696536 27696536 single base substitution G A upstream_gene_variant ESAD-UK 2 27696679 27696679 deletion of <=200bp T - intron_variant ESAD-UK 2 27696679 27696679 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 27697743 27697743 insertion of <=200bp - A intron_variant ESAD-UK 2 27697743 27697743 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 27697801 27697801 single base substitution G A intron_variant ESAD-UK 2 27697801 27697801 single base substitution G A upstream_gene_variant ESAD-UK 2 27698633 27698633 insertion of <=200bp - A intron_variant ESAD-UK 2 27698633 27698633 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 27701279 27701279 deletion of <=200bp C - intron_variant ESAD-UK 2 27703539 27703539 single base substitution A T downstream_gene_variant ESAD-UK 2 27703539 27703539 single base substitution A T intron_variant ESAD-UK 2 27703770 27703770 single base substitution G A downstream_gene_variant ESAD-UK 2 27703770 27703770 single base substitution G A intron_variant ESAD-UK 2 27704912 27704912 single base substitution G A downstream_gene_variant ESAD-UK 2 27704912 27704912 single base substitution G A intron_variant ESAD-UK 2 27704990 27704990 single base substitution C T downstream_gene_variant ESAD-UK 2 27704990 27704990 single base substitution C T intron_variant ESAD-UK 2 27705165 27705165 single base substitution T C downstream_gene_variant ESAD-UK 2 27705165 27705165 single base substitution T C intron_variant ESAD-UK 2 27708063 27708063 deletion of <=200bp A - intron_variant ESAD-UK 2 27712791 27712791 single base substitution A C upstream_gene_variant ESAD-UK 2 27716447 27716447 single base substitution T A upstream_gene_variant ESAD-UK 2 27717336 27717336 single base substitution G C upstream_gene_variant ESCA-CN 2 27662714 27662714 single base substitution G T downstream_gene_variant ESCA-CN 2 27662715 27662715 single base substitution A T downstream_gene_variant ESCA-CN 2 27709168 27709168 single base substitution G T intron_variant GBM-US 2 27670769 27670769 single base substitution C A downstream_gene_variant GBM-US 2 27670769 27670769 single base substitution C A exon_variant GBM-US 2 27670769 27670769 single base substitution C A missense_variant R1483S 4449G>T GBM-US 2 27670769 27670769 single base substitution C A upstream_gene_variant GBM-US 2 27682592 27682592 single base substitution G T exon_variant GBM-US 2 27682592 27682592 single base substitution G T missense_variant H876N 2626C>A GBM-US 2 27682592 27682592 single base substitution G T upstream_gene_variant GBM-US 2 27688614 27688614 single base substitution G A missense_variant R610W 1828C>T GBM-US 2 27688614 27688614 single base substitution G A splice_region_variant GBM-US 2 27716857 27716857 single base substitution G A upstream_gene_variant KIRC-US 2 27663325 27663325 single base substitution C T downstream_gene_variant KIRC-US 2 27663740 27663740 single base substitution C T downstream_gene_variant KIRC-US 2 27671791 27671791 single base substitution A G 3_prime_UTR_variant KIRC-US 2 27671791 27671791 single base substitution A G downstream_gene_variant KIRC-US 2 27671791 27671791 single base substitution A G exon_variant KIRC-US 2 27671791 27671791 single base substitution A G synonymous_variant A1473A 4419T>C KIRC-US 2 27671791 27671791 single base substitution A G upstream_gene_variant KIRC-US 2 27684150 27684150 deletion of <=200bp C - downstream_gene_variant KIRC-US 2 27684150 27684150 deletion of <=200bp C - exon_variant KIRC-US 2 27684150 27684150 deletion of <=200bp C - frameshift_variant E810 KIRC-US 2 27684150 27684150 deletion of <=200bp C - upstream_gene_variant KIRC-US 2 27702943 27702946 deletion of <=200bp ATAA - downstream_gene_variant KIRC-US 2 27702943 27702946 deletion of <=200bp ATAA - exon_variant KIRC-US 2 27702943 27702946 deletion of <=200bp ATAA - frameshift_variant LY265 KIRC-US 2 27702943 27702946 deletion of <=200bp ATAA - frameshift_variant LY286 KIRC-US 2 27704017 27704017 single base substitution G T downstream_gene_variant KIRC-US 2 27704017 27704017 single base substitution G T exon_variant KIRC-US 2 27704017 27704017 single base substitution G T intron_variant KIRC-US 2 27704017 27704017 single base substitution G T missense_variant H206Q 618C>A KIRC-US 2 27704017 27704017 single base substitution G T missense_variant H227Q 681C>A KIRC-US 2 27716993 27716993 single base substitution A G upstream_gene_variant KIRP-US 2 27664588 27664588 single base substitution G A downstream_gene_variant KIRP-US 2 27702392 27702392 single base substitution T A downstream_gene_variant KIRP-US 2 27702392 27702392 single base substitution T A exon_variant KIRP-US 2 27702392 27702392 single base substitution T A missense_variant Y309F 926A>T KIRP-US 2 27702392 27702392 single base substitution T A missense_variant Y330F 989A>T LAML-KR 2 27662862 27662862 single base substitution C T downstream_gene_variant LAML-KR 2 27663215 27663215 single base substitution T A downstream_gene_variant LAML-KR 2 27664735 27664735 single base substitution G T downstream_gene_variant LAML-KR 2 27670307 27670307 single base substitution G A downstream_gene_variant LAML-KR 2 27670307 27670307 single base substitution G A intron_variant LAML-KR 2 27670307 27670307 single base substitution G A upstream_gene_variant LAML-KR 2 27676287 27676287 single base substitution A T downstream_gene_variant LAML-KR 2 27676287 27676287 single base substitution A T exon_variant LAML-KR 2 27676287 27676287 single base substitution A T synonymous_variant S1305S 3915T>A LAML-KR 2 27676287 27676287 single base substitution A T synonymous_variant S173S 519T>A LAML-KR 2 27681598 27681598 single base substitution A C intron_variant LAML-KR 2 27681598 27681598 single base substitution A C upstream_gene_variant LAML-KR 2 27688601 27688601 single base substitution C T intron_variant LAML-KR 2 27706640 27706640 single base substitution T C downstream_gene_variant LAML-KR 2 27706640 27706640 single base substitution T C intron_variant LAML-KR 2 27715416 27715416 single base substitution C T upstream_gene_variant LAML-KR 2 27716494 27716494 single base substitution G A upstream_gene_variant LGG-US 2 27665528 27665528 single base substitution C T downstream_gene_variant LGG-US 2 27666916 27666916 single base substitution G A downstream_gene_variant LICA-CN 2 27665769 27665769 single base substitution G T downstream_gene_variant LICA-CN 2 27677237 27677237 single base substitution T A downstream_gene_variant LICA-CN 2 27677237 27677237 single base substitution T A exon_variant LICA-CN 2 27677237 27677237 single base substitution T A stop_gained K1172* 3514A>T LICA-CN 2 27677237 27677237 single base substitution T A stop_gained K40* 118A>T LICA-CN 2 27677237 27677237 single base substitution T A upstream_gene_variant LICA-CN 2 27716347 27716347 single base substitution T A upstream_gene_variant LICA-FR 2 27668691 27668691 single base substitution A G 3_prime_UTR_variant LICA-FR 2 27668691 27668691 single base substitution A G downstream_gene_variant LICA-FR 2 27668691 27668691 single base substitution A G exon_variant LICA-FR 2 27668691 27668691 single base substitution A G intron_variant LICA-FR 2 27668691 27668691 single base substitution A G missense_variant L1612P 4835T>C LICA-FR 2 27682293 27682293 single base substitution T C exon_variant LICA-FR 2 27682293 27682293 single base substitution T C synonymous_variant K913K 2739A>G LICA-FR 2 27682293 27682293 single base substitution T C upstream_gene_variant LICA-FR 2 27706736 27706736 single base substitution T C downstream_gene_variant LICA-FR 2 27706736 27706736 single base substitution T C splice_region_variant LICA-FR 2 27706975 27706975 single base substitution T A exon_variant LICA-FR 2 27706975 27706975 single base substitution T A intron_variant LIHC-US 2 27679434 27679434 single base substitution T C downstream_gene_variant LIHC-US 2 27679434 27679434 single base substitution T C exon_variant LIHC-US 2 27679434 27679434 single base substitution T C synonymous_variant R1105R 3315A>G LIHC-US 2 27679434 27679434 single base substitution T C upstream_gene_variant LIHC-US 2 27688641 27688641 single base substitution T G exon_variant LIHC-US 2 27688641 27688641 single base substitution T G missense_variant T601P 1801A>C LINC-JP 2 27662862 27662862 single base substitution C T downstream_gene_variant LINC-JP 2 27663124 27663124 single base substitution C T downstream_gene_variant LINC-JP 2 27663347 27663347 single base substitution G A downstream_gene_variant LINC-JP 2 27676059 27676059 single base substitution C T 3_prime_UTR_variant LINC-JP 2 27676059 27676059 single base substitution C T downstream_gene_variant LINC-JP 2 27676059 27676059 single base substitution C T exon_variant LINC-JP 2 27676059 27676059 single base substitution C T intron_variant LINC-JP 2 27684257 27684257 single base substitution A G downstream_gene_variant LINC-JP 2 27684257 27684257 single base substitution A G exon_variant LINC-JP 2 27684257 27684257 single base substitution A G missense_variant L774P 2321T>C LINC-JP 2 27684257 27684257 single base substitution A G upstream_gene_variant LINC-JP 2 27696344 27696344 single base substitution A T intron_variant LINC-JP 2 27696344 27696344 single base substitution A T upstream_gene_variant LINC-JP 2 27701058 27701058 single base substitution C G intron_variant LINC-JP 2 27701100 27701100 single base substitution C A intron_variant LINC-JP 2 27704052 27704052 single base substitution C T downstream_gene_variant LINC-JP 2 27704052 27704052 single base substitution C T exon_variant LINC-JP 2 27704052 27704052 single base substitution C T intron_variant LINC-JP 2 27704052 27704052 single base substitution C T missense_variant D195N 583G>A LINC-JP 2 27704052 27704052 single base substitution C T missense_variant D216N 646G>A LINC-JP 2 27705709 27705709 single base substitution C T downstream_gene_variant LINC-JP 2 27705709 27705709 single base substitution C T intron_variant LINC-JP 2 27706910 27706910 single base substitution G A exon_variant LINC-JP 2 27706910 27706910 single base substitution G A intron_variant LINC-JP 2 27707531 27707531 single base substitution A T intron_variant LINC-JP 2 27714829 27714829 single base substitution A G upstream_gene_variant LIRI-JP 2 27662741 27662741 single base substitution G A downstream_gene_variant LIRI-JP 2 27663707 27663707 single base substitution C T downstream_gene_variant LIRI-JP 2 27664557 27664557 single base substitution T G downstream_gene_variant LIRI-JP 2 27665620 27665620 single base substitution C T downstream_gene_variant LIRI-JP 2 27665720 27665720 single base substitution G T downstream_gene_variant LIRI-JP 2 27667937 27667937 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 27667937 27667937 single base substitution G A downstream_gene_variant LIRI-JP 2 27667937 27667937 single base substitution G A exon_variant LIRI-JP 2 27667937 27667937 single base substitution G A missense_variant R1702W 5104C>T LIRI-JP 2 27671437 27671437 single base substitution T G downstream_gene_variant LIRI-JP 2 27671437 27671437 single base substitution T G intron_variant LIRI-JP 2 27671437 27671437 single base substitution T G upstream_gene_variant LIRI-JP 2 27671958 27671958 single base substitution G T downstream_gene_variant LIRI-JP 2 27671958 27671958 single base substitution G T intron_variant LIRI-JP 2 27671958 27671958 single base substitution G T upstream_gene_variant LIRI-JP 2 27673004 27673004 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 27673004 27673004 deletion of <=200bp A - intron_variant LIRI-JP 2 27673004 27673004 deletion of <=200bp A - upstream_gene_variant LIRI-JP 2 27673008 27673008 single base substitution A G downstream_gene_variant LIRI-JP 2 27673008 27673008 single base substitution A G intron_variant LIRI-JP 2 27673008 27673008 single base substitution A G upstream_gene_variant LIRI-JP 2 27678592 27678592 single base substitution A G downstream_gene_variant LIRI-JP 2 27678592 27678592 single base substitution A G intron_variant LIRI-JP 2 27678592 27678592 single base substitution A G upstream_gene_variant LIRI-JP 2 27680075 27680075 single base substitution C T downstream_gene_variant LIRI-JP 2 27680075 27680075 single base substitution C T intron_variant LIRI-JP 2 27680075 27680075 single base substitution C T upstream_gene_variant LIRI-JP 2 27680934 27680934 single base substitution C A exon_variant LIRI-JP 2 27680934 27680934 single base substitution C A intron_variant LIRI-JP 2 27680934 27680934 single base substitution C A upstream_gene_variant LIRI-JP 2 27686089 27686089 single base substitution T C downstream_gene_variant LIRI-JP 2 27686089 27686089 single base substitution T C intron_variant LIRI-JP 2 27686089 27686089 single base substitution T C upstream_gene_variant LIRI-JP 2 27686274 27686274 single base substitution A T downstream_gene_variant LIRI-JP 2 27686274 27686274 single base substitution A T intron_variant LIRI-JP 2 27686274 27686274 single base substitution A T upstream_gene_variant LIRI-JP 2 27688423 27688423 single base substitution A C intron_variant LIRI-JP 2 27688940 27688940 single base substitution G C downstream_gene_variant LIRI-JP 2 27688940 27688940 single base substitution G C exon_variant LIRI-JP 2 27688940 27688940 single base substitution G C intron_variant LIRI-JP 2 27693455 27693455 single base substitution C G downstream_gene_variant LIRI-JP 2 27693455 27693455 single base substitution C G intron_variant LIRI-JP 2 27693455 27693455 single base substitution C G upstream_gene_variant LIRI-JP 2 27694954 27694954 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 27694954 27694954 single base substitution T C downstream_gene_variant LIRI-JP 2 27694954 27694954 single base substitution T C intron_variant LIRI-JP 2 27694954 27694954 single base substitution T C upstream_gene_variant LIRI-JP 2 27696864 27696864 single base substitution G A intron_variant LIRI-JP 2 27696864 27696864 single base substitution G A upstream_gene_variant LIRI-JP 2 27700783 27700783 single base substitution C G intron_variant LIRI-JP 2 27701294 27701294 single base substitution T C intron_variant LIRI-JP 2 27702505 27702505 single base substitution C T downstream_gene_variant LIRI-JP 2 27702505 27702505 single base substitution C T intron_variant LIRI-JP 2 27704241 27704241 single base substitution C A downstream_gene_variant LIRI-JP 2 27704241 27704241 single base substitution C A intron_variant LIRI-JP 2 27704242 27704242 single base substitution C A downstream_gene_variant LIRI-JP 2 27704242 27704242 single base substitution C A intron_variant LIRI-JP 2 27704359 27704359 single base substitution C T downstream_gene_variant LIRI-JP 2 27704359 27704359 single base substitution C T intron_variant LIRI-JP 2 27707644 27707644 single base substitution C T intron_variant LIRI-JP 2 27716375 27716375 single base substitution C A upstream_gene_variant LUSC-KR 2 27673181 27673181 single base substitution C G downstream_gene_variant LUSC-KR 2 27673181 27673181 single base substitution C G intron_variant LUSC-KR 2 27673181 27673181 single base substitution C G upstream_gene_variant LUSC-KR 2 27673692 27673692 single base substitution C G downstream_gene_variant LUSC-KR 2 27673692 27673692 single base substitution C G intron_variant LUSC-KR 2 27673692 27673692 single base substitution C G upstream_gene_variant LUSC-KR 2 27673949 27673949 single base substitution C G downstream_gene_variant LUSC-KR 2 27673949 27673949 single base substitution C G intron_variant LUSC-KR 2 27673949 27673949 single base substitution C G upstream_gene_variant LUSC-KR 2 27674239 27674239 single base substitution C G downstream_gene_variant LUSC-KR 2 27674239 27674239 single base substitution C G intron_variant LUSC-KR 2 27674239 27674239 single base substitution C G upstream_gene_variant LUSC-KR 2 27674270 27674270 single base substitution C G downstream_gene_variant LUSC-KR 2 27674270 27674270 single base substitution C G intron_variant LUSC-KR 2 27674270 27674270 single base substitution C G upstream_gene_variant LUSC-KR 2 27674893 27674893 single base substitution G A downstream_gene_variant LUSC-KR 2 27674893 27674893 single base substitution G A intron_variant LUSC-KR 2 27674893 27674893 single base substitution G A upstream_gene_variant LUSC-KR 2 27677976 27677976 single base substitution A G downstream_gene_variant LUSC-KR 2 27677976 27677976 single base substitution A G intron_variant LUSC-KR 2 27677976 27677976 single base substitution A G upstream_gene_variant LUSC-KR 2 27678089 27678089 single base substitution C T downstream_gene_variant LUSC-KR 2 27678089 27678089 single base substitution C T intron_variant LUSC-KR 2 27678089 27678089 single base substitution C T upstream_gene_variant LUSC-KR 2 27684314 27684314 single base substitution C T downstream_gene_variant LUSC-KR 2 27684314 27684314 single base substitution C T exon_variant LUSC-KR 2 27684314 27684314 single base substitution C T missense_variant R755Q 2264G>A LUSC-KR 2 27684314 27684314 single base substitution C T upstream_gene_variant LUSC-KR 2 27684734 27684734 single base substitution A G downstream_gene_variant LUSC-KR 2 27684734 27684734 single base substitution A G intron_variant LUSC-KR 2 27684734 27684734 single base substitution A G upstream_gene_variant LUSC-KR 2 27685748 27685748 single base substitution G C downstream_gene_variant LUSC-KR 2 27685748 27685748 single base substitution G C intron_variant LUSC-KR 2 27685748 27685748 single base substitution G C upstream_gene_variant LUSC-KR 2 27685938 27685938 single base substitution G A downstream_gene_variant LUSC-KR 2 27685938 27685938 single base substitution G A intron_variant LUSC-KR 2 27685938 27685938 single base substitution G A upstream_gene_variant LUSC-KR 2 27686594 27686594 single base substitution T G downstream_gene_variant LUSC-KR 2 27686594 27686594 single base substitution T G intron_variant LUSC-KR 2 27686594 27686594 single base substitution T G upstream_gene_variant LUSC-KR 2 27686664 27686664 single base substitution A G downstream_gene_variant LUSC-KR 2 27686664 27686664 single base substitution A G intron_variant LUSC-KR 2 27686664 27686664 single base substitution A G upstream_gene_variant LUSC-KR 2 27687509 27687509 single base substitution T A downstream_gene_variant LUSC-KR 2 27687509 27687509 single base substitution T A intron_variant LUSC-KR 2 27691605 27691605 single base substitution A G downstream_gene_variant LUSC-KR 2 27691605 27691605 single base substitution A G intron_variant LUSC-KR 2 27691605 27691605 single base substitution A G upstream_gene_variant LUSC-KR 2 27696638 27696638 single base substitution G C intron_variant LUSC-KR 2 27696638 27696638 single base substitution G C upstream_gene_variant LUSC-KR 2 27698018 27698018 single base substitution T C intron_variant LUSC-KR 2 27698018 27698018 single base substitution T C upstream_gene_variant LUSC-KR 2 27698601 27698601 single base substitution A G intron_variant LUSC-KR 2 27698601 27698601 single base substitution A G upstream_gene_variant LUSC-KR 2 27704321 27704321 single base substitution T C downstream_gene_variant LUSC-KR 2 27704321 27704321 single base substitution T C intron_variant LUSC-KR 2 27705521 27705521 single base substitution C G downstream_gene_variant LUSC-KR 2 27705521 27705521 single base substitution C G intron_variant LUSC-KR 2 27713203 27713203 single base substitution A G upstream_gene_variant LUSC-KR 2 27715558 27715558 single base substitution T C upstream_gene_variant LUSC-KR 2 27716494 27716494 single base substitution G A upstream_gene_variant LUSC-KR 2 27716873 27716873 single base substitution C G upstream_gene_variant LUSC-US 2 27670407 27670407 single base substitution G A 3_prime_UTR_variant LUSC-US 2 27670407 27670407 single base substitution G A downstream_gene_variant LUSC-US 2 27670407 27670407 single base substitution G A exon_variant LUSC-US 2 27670407 27670407 single base substitution G A missense_variant S1545F 4634C>T LUSC-US 2 27670407 27670407 single base substitution G A upstream_gene_variant LUSC-US 2 27672642 27672642 single base substitution T C 3_prime_UTR_variant LUSC-US 2 27672642 27672642 single base substitution T C downstream_gene_variant LUSC-US 2 27672642 27672642 single base substitution T C exon_variant LUSC-US 2 27672642 27672642 single base substitution T C missense_variant D1359G 4076A>G LUSC-US 2 27672642 27672642 single base substitution T C upstream_gene_variant LUSC-US 2 27676897 27676897 single base substitution C T downstream_gene_variant LUSC-US 2 27676897 27676897 single base substitution C T exon_variant LUSC-US 2 27676897 27676897 single base substitution C T synonymous_variant G1221G 3663G>A LUSC-US 2 27676897 27676897 single base substitution C T synonymous_variant G89G 267G>A LUSC-US 2 27676897 27676897 single base substitution C T upstream_gene_variant LUSC-US 2 27684180 27684180 single base substitution C G downstream_gene_variant LUSC-US 2 27684180 27684180 single base substitution C G exon_variant LUSC-US 2 27684180 27684180 single base substitution C G missense_variant E800Q 2398G>C LUSC-US 2 27684180 27684180 single base substitution C G upstream_gene_variant LUSC-US 2 27700124 27700124 single base substitution C A exon_variant LUSC-US 2 27700124 27700124 single base substitution C A missense_variant G408C 1222G>T LUSC-US 2 27700124 27700124 single base substitution C A missense_variant G429C 1285G>T LUSC-US 2 27706745 27706745 single base substitution T A downstream_gene_variant LUSC-US 2 27706745 27706745 single base substitution T A exon_variant LUSC-US 2 27706745 27706745 single base substitution T A missense_variant E111D 333A>T LUSC-US 2 27706745 27706745 single base substitution T A missense_variant E132D 396A>T MALY-DE 2 27662503 27662503 single base substitution A C downstream_gene_variant MALY-DE 2 27689183 27689183 single base substitution C T downstream_gene_variant MALY-DE 2 27689183 27689183 single base substitution C T intron_variant MALY-DE 2 27689183 27689183 single base substitution C T upstream_gene_variant MALY-DE 2 27699409 27699409 single base substitution C G intron_variant MALY-DE 2 27715987 27715987 single base substitution C A upstream_gene_variant MALY-DE 2 27716173 27716173 single base substitution C T upstream_gene_variant MALY-DE 2 27717251 27717251 single base substitution G T upstream_gene_variant MALY-DE 2 27717313 27717313 single base substitution T C upstream_gene_variant MELA-AU 2 27662345 27662345 single base substitution C T downstream_gene_variant MELA-AU 2 27663293 27663293 single base substitution G A downstream_gene_variant MELA-AU 2 27663802 27663802 single base substitution C T downstream_gene_variant MELA-AU 2 27663880 27663880 single base substitution C A downstream_gene_variant MELA-AU 2 27664226 27664226 single base substitution G A downstream_gene_variant MELA-AU 2 27664568 27664568 single base substitution C T downstream_gene_variant MELA-AU 2 27664599 27664599 single base substitution C T downstream_gene_variant MELA-AU 2 27664827 27664827 single base substitution G A downstream_gene_variant MELA-AU 2 27666910 27666910 single base substitution G A downstream_gene_variant MELA-AU 2 27667759 27667759 single base substitution G A downstream_gene_variant MELA-AU 2 27667759 27667759 single base substitution G A intron_variant MELA-AU 2 27669930 27669930 single base substitution G A downstream_gene_variant MELA-AU 2 27669930 27669930 single base substitution G A intron_variant MELA-AU 2 27669930 27669930 single base substitution G A upstream_gene_variant MELA-AU 2 27670812 27670812 single base substitution G A downstream_gene_variant MELA-AU 2 27670812 27670812 single base substitution G A intron_variant MELA-AU 2 27670812 27670812 single base substitution G A upstream_gene_variant MELA-AU 2 27671450 27671450 single base substitution T C downstream_gene_variant MELA-AU 2 27671450 27671450 single base substitution T C intron_variant MELA-AU 2 27671450 27671450 single base substitution T C upstream_gene_variant MELA-AU 2 27671519 27671519 single base substitution C T downstream_gene_variant MELA-AU 2 27671519 27671519 single base substitution C T intron_variant MELA-AU 2 27671519 27671519 single base substitution C T upstream_gene_variant MELA-AU 2 27672055 27672055 single base substitution C T downstream_gene_variant MELA-AU 2 27672055 27672055 single base substitution C T intron_variant MELA-AU 2 27672055 27672055 single base substitution C T upstream_gene_variant MELA-AU 2 27672474 27672474 single base substitution C T downstream_gene_variant MELA-AU 2 27672474 27672474 single base substitution C T intron_variant MELA-AU 2 27672474 27672474 single base substitution C T upstream_gene_variant MELA-AU 2 27673297 27673297 single base substitution G A downstream_gene_variant MELA-AU 2 27673297 27673297 single base substitution G A intron_variant MELA-AU 2 27673297 27673297 single base substitution G A upstream_gene_variant MELA-AU 2 27673447 27673447 single base substitution G A downstream_gene_variant MELA-AU 2 27673447 27673447 single base substitution G A intron_variant MELA-AU 2 27673447 27673447 single base substitution G A upstream_gene_variant MELA-AU 2 27673759 27673759 single base substitution G A downstream_gene_variant MELA-AU 2 27673759 27673759 single base substitution G A intron_variant MELA-AU 2 27673759 27673759 single base substitution G A upstream_gene_variant MELA-AU 2 27674089 27674089 single base substitution C T downstream_gene_variant MELA-AU 2 27674089 27674089 single base substitution C T intron_variant MELA-AU 2 27674089 27674089 single base substitution C T upstream_gene_variant MELA-AU 2 27674426 27674426 single base substitution G A downstream_gene_variant MELA-AU 2 27674426 27674426 single base substitution G A intron_variant MELA-AU 2 27674426 27674426 single base substitution G A upstream_gene_variant MELA-AU 2 27674713 27674713 single base substitution G A downstream_gene_variant MELA-AU 2 27674713 27674713 single base substitution G A intron_variant MELA-AU 2 27674713 27674713 single base substitution G A upstream_gene_variant MELA-AU 2 27674965 27674965 single base substitution G A downstream_gene_variant MELA-AU 2 27674965 27674965 single base substitution G A intron_variant MELA-AU 2 27674965 27674965 single base substitution G A upstream_gene_variant MELA-AU 2 27676337 27676337 single base substitution C T downstream_gene_variant MELA-AU 2 27676337 27676337 single base substitution C T exon_variant MELA-AU 2 27676337 27676337 single base substitution C T missense_variant A1289T 3865G>A MELA-AU 2 27676337 27676337 single base substitution C T missense_variant A157T 469G>A MELA-AU 2 27676715 27676715 single base substitution C T downstream_gene_variant MELA-AU 2 27676715 27676715 single base substitution C T intron_variant MELA-AU 2 27676715 27676715 single base substitution C T upstream_gene_variant MELA-AU 2 27676961 27676961 single base substitution G A downstream_gene_variant MELA-AU 2 27676961 27676961 single base substitution G A exon_variant MELA-AU 2 27676961 27676961 single base substitution G A missense_variant A1200V 3599C>T MELA-AU 2 27676961 27676961 single base substitution G A missense_variant A68V 203C>T MELA-AU 2 27676961 27676961 single base substitution G A upstream_gene_variant MELA-AU 2 27677067 27677067 single base substitution G A downstream_gene_variant MELA-AU 2 27677067 27677067 single base substitution G A intron_variant MELA-AU 2 27677067 27677067 single base substitution G A upstream_gene_variant MELA-AU 2 27677231 27677231 single base substitution C A downstream_gene_variant MELA-AU 2 27677231 27677231 single base substitution C A exon_variant MELA-AU 2 27677231 27677231 single base substitution C A missense_variant A1174S 3520G>T MELA-AU 2 27677231 27677231 single base substitution C A missense_variant A42S 124G>T MELA-AU 2 27677231 27677231 single base substitution C A upstream_gene_variant MELA-AU 2 27678989 27678989 single base substitution G A downstream_gene_variant MELA-AU 2 27678989 27678989 single base substitution G A intron_variant MELA-AU 2 27678989 27678989 single base substitution G A upstream_gene_variant MELA-AU 2 27679628 27679628 single base substitution G A downstream_gene_variant MELA-AU 2 27679628 27679628 single base substitution G A intron_variant MELA-AU 2 27679628 27679628 single base substitution G A upstream_gene_variant MELA-AU 2 27679776 27679776 single base substitution G A downstream_gene_variant MELA-AU 2 27679776 27679776 single base substitution G A intron_variant MELA-AU 2 27679776 27679776 single base substitution G A upstream_gene_variant MELA-AU 2 27680216 27680216 single base substitution C T downstream_gene_variant MELA-AU 2 27680216 27680216 single base substitution C T intron_variant MELA-AU 2 27680216 27680216 single base substitution C T upstream_gene_variant MELA-AU 2 27680674 27680674 single base substitution G A downstream_gene_variant MELA-AU 2 27680674 27680674 single base substitution G A intron_variant MELA-AU 2 27680674 27680674 single base substitution G A upstream_gene_variant MELA-AU 2 27681257 27681257 single base substitution G A intron_variant MELA-AU 2 27681257 27681257 single base substitution G A upstream_gene_variant MELA-AU 2 27681552 27681552 single base substitution G A intron_variant MELA-AU 2 27681552 27681552 single base substitution G A upstream_gene_variant MELA-AU 2 27681584 27681584 single base substitution G A intron_variant MELA-AU 2 27681584 27681584 single base substitution G A upstream_gene_variant MELA-AU 2 27681744 27681744 single base substitution G A exon_variant MELA-AU 2 27681744 27681744 single base substitution G A intron_variant MELA-AU 2 27681744 27681744 single base substitution G A upstream_gene_variant MELA-AU 2 27681819 27681819 single base substitution G A exon_variant MELA-AU 2 27681819 27681819 single base substitution G A intron_variant MELA-AU 2 27681819 27681819 single base substitution G A upstream_gene_variant MELA-AU 2 27682146 27682146 single base substitution G A intron_variant MELA-AU 2 27682146 27682146 single base substitution G A upstream_gene_variant MELA-AU 2 27683858 27683858 single base substitution G A downstream_gene_variant MELA-AU 2 27683858 27683858 single base substitution G A intron_variant MELA-AU 2 27683858 27683858 single base substitution G A upstream_gene_variant MELA-AU 2 27684117 27684117 single base substitution G A downstream_gene_variant MELA-AU 2 27684117 27684117 single base substitution G A intron_variant MELA-AU 2 27684117 27684117 single base substitution G A upstream_gene_variant MELA-AU 2 27684730 27684730 single base substitution G A downstream_gene_variant MELA-AU 2 27684730 27684730 single base substitution G A intron_variant MELA-AU 2 27684730 27684730 single base substitution G A upstream_gene_variant MELA-AU 2 27685314 27685315 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 27685314 27685315 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27685314 27685315 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 27685362 27685362 single base substitution G A downstream_gene_variant MELA-AU 2 27685362 27685362 single base substitution G A intron_variant MELA-AU 2 27685362 27685362 single base substitution G A upstream_gene_variant MELA-AU 2 27685452 27685452 single base substitution C T downstream_gene_variant MELA-AU 2 27685452 27685452 single base substitution C T intron_variant MELA-AU 2 27685452 27685452 single base substitution C T upstream_gene_variant MELA-AU 2 27685668 27685668 single base substitution G A downstream_gene_variant MELA-AU 2 27685668 27685668 single base substitution G A splice_region_variant MELA-AU 2 27685668 27685668 single base substitution G A upstream_gene_variant MELA-AU 2 27686153 27686153 single base substitution C T downstream_gene_variant MELA-AU 2 27686153 27686153 single base substitution C T intron_variant MELA-AU 2 27686153 27686153 single base substitution C T upstream_gene_variant MELA-AU 2 27686251 27686251 single base substitution G A downstream_gene_variant MELA-AU 2 27686251 27686251 single base substitution G A intron_variant MELA-AU 2 27686251 27686251 single base substitution G A upstream_gene_variant MELA-AU 2 27686291 27686291 single base substitution G A downstream_gene_variant MELA-AU 2 27686291 27686291 single base substitution G A intron_variant MELA-AU 2 27686291 27686291 single base substitution G A upstream_gene_variant MELA-AU 2 27686626 27686627 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 27686626 27686627 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27686626 27686627 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 27686791 27686791 single base substitution A G downstream_gene_variant MELA-AU 2 27686791 27686791 single base substitution A G intron_variant MELA-AU 2 27686791 27686791 single base substitution A G upstream_gene_variant MELA-AU 2 27686978 27686978 single base substitution G A downstream_gene_variant MELA-AU 2 27686978 27686978 single base substitution G A intron_variant MELA-AU 2 27686978 27686978 single base substitution G A upstream_gene_variant MELA-AU 2 27687170 27687170 single base substitution C T downstream_gene_variant MELA-AU 2 27687170 27687170 single base substitution C T intron_variant MELA-AU 2 27687335 27687335 single base substitution G A downstream_gene_variant MELA-AU 2 27687335 27687335 single base substitution G A intron_variant MELA-AU 2 27687535 27687535 single base substitution G A downstream_gene_variant MELA-AU 2 27687535 27687535 single base substitution G A intron_variant MELA-AU 2 27688472 27688473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27689676 27689676 single base substitution C T downstream_gene_variant MELA-AU 2 27689676 27689676 single base substitution C T intron_variant MELA-AU 2 27689676 27689676 single base substitution C T upstream_gene_variant MELA-AU 2 27690131 27690131 single base substitution G A downstream_gene_variant MELA-AU 2 27690131 27690131 single base substitution G A intron_variant MELA-AU 2 27690131 27690131 single base substitution G A upstream_gene_variant MELA-AU 2 27690467 27690467 single base substitution G A downstream_gene_variant MELA-AU 2 27690467 27690467 single base substitution G A intron_variant MELA-AU 2 27690467 27690467 single base substitution G A upstream_gene_variant MELA-AU 2 27691180 27691180 single base substitution A G downstream_gene_variant MELA-AU 2 27691180 27691180 single base substitution A G intron_variant MELA-AU 2 27691180 27691180 single base substitution A G upstream_gene_variant MELA-AU 2 27691412 27691412 single base substitution G A downstream_gene_variant MELA-AU 2 27691412 27691412 single base substitution G A intron_variant MELA-AU 2 27691412 27691412 single base substitution G A upstream_gene_variant MELA-AU 2 27692155 27692155 single base substitution G A downstream_gene_variant MELA-AU 2 27692155 27692155 single base substitution G A intron_variant MELA-AU 2 27692155 27692155 single base substitution G A upstream_gene_variant MELA-AU 2 27692310 27692310 single base substitution G A downstream_gene_variant MELA-AU 2 27692310 27692310 single base substitution G A intron_variant MELA-AU 2 27692310 27692310 single base substitution G A upstream_gene_variant MELA-AU 2 27692363 27692363 single base substitution G A downstream_gene_variant MELA-AU 2 27692363 27692363 single base substitution G A intron_variant MELA-AU 2 27692363 27692363 single base substitution G A upstream_gene_variant MELA-AU 2 27693098 27693098 single base substitution G A downstream_gene_variant MELA-AU 2 27693098 27693098 single base substitution G A intron_variant MELA-AU 2 27693098 27693098 single base substitution G A upstream_gene_variant MELA-AU 2 27693121 27693121 single base substitution G A downstream_gene_variant MELA-AU 2 27693121 27693121 single base substitution G A intron_variant MELA-AU 2 27693121 27693121 single base substitution G A upstream_gene_variant MELA-AU 2 27693175 27693175 single base substitution G T downstream_gene_variant MELA-AU 2 27693175 27693175 single base substitution G T intron_variant MELA-AU 2 27693175 27693175 single base substitution G T upstream_gene_variant MELA-AU 2 27693490 27693490 single base substitution G A downstream_gene_variant MELA-AU 2 27693490 27693490 single base substitution G A intron_variant MELA-AU 2 27693490 27693490 single base substitution G A upstream_gene_variant MELA-AU 2 27693496 27693496 single base substitution G A downstream_gene_variant MELA-AU 2 27693496 27693496 single base substitution G A intron_variant MELA-AU 2 27693496 27693496 single base substitution G A upstream_gene_variant MELA-AU 2 27693540 27693541 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 27693540 27693541 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27693540 27693541 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 27693585 27693585 single base substitution G A downstream_gene_variant MELA-AU 2 27693585 27693585 single base substitution G A intron_variant MELA-AU 2 27693585 27693585 single base substitution G A upstream_gene_variant MELA-AU 2 27694244 27694244 single base substitution G A downstream_gene_variant MELA-AU 2 27694244 27694244 single base substitution G A intron_variant MELA-AU 2 27694244 27694244 single base substitution G A upstream_gene_variant MELA-AU 2 27694245 27694245 single base substitution G A downstream_gene_variant MELA-AU 2 27694245 27694245 single base substitution G A intron_variant MELA-AU 2 27694245 27694245 single base substitution G A upstream_gene_variant MELA-AU 2 27694397 27694397 single base substitution G A downstream_gene_variant MELA-AU 2 27694397 27694397 single base substitution G A intron_variant MELA-AU 2 27694397 27694397 single base substitution G A upstream_gene_variant MELA-AU 2 27694621 27694621 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27694621 27694621 single base substitution G A downstream_gene_variant MELA-AU 2 27694621 27694621 single base substitution G A intron_variant MELA-AU 2 27694621 27694621 single base substitution G A upstream_gene_variant MELA-AU 2 27694689 27694689 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27694689 27694689 single base substitution G A downstream_gene_variant MELA-AU 2 27694689 27694689 single base substitution G A intron_variant MELA-AU 2 27694689 27694689 single base substitution G A upstream_gene_variant MELA-AU 2 27694802 27694802 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27694802 27694802 single base substitution G A downstream_gene_variant MELA-AU 2 27694802 27694802 single base substitution G A intron_variant MELA-AU 2 27694802 27694802 single base substitution G A upstream_gene_variant MELA-AU 2 27694912 27694912 single base substitution A G 3_prime_UTR_variant MELA-AU 2 27694912 27694912 single base substitution A G downstream_gene_variant MELA-AU 2 27694912 27694912 single base substitution A G intron_variant MELA-AU 2 27694912 27694912 single base substitution A G upstream_gene_variant MELA-AU 2 27695831 27695831 single base substitution T A intron_variant MELA-AU 2 27695831 27695831 single base substitution T A upstream_gene_variant MELA-AU 2 27695875 27695875 single base substitution G T intron_variant MELA-AU 2 27695875 27695875 single base substitution G T upstream_gene_variant MELA-AU 2 27696131 27696131 single base substitution G A intron_variant MELA-AU 2 27696131 27696131 single base substitution G A upstream_gene_variant MELA-AU 2 27696145 27696145 single base substitution G A intron_variant MELA-AU 2 27696145 27696145 single base substitution G A upstream_gene_variant MELA-AU 2 27696488 27696489 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 2 27696488 27696489 multiple base substitution (>=2bp and <=200bp) AT TA upstream_gene_variant MELA-AU 2 27696530 27696530 single base substitution G A intron_variant MELA-AU 2 27696530 27696530 single base substitution G A upstream_gene_variant MELA-AU 2 27696659 27696659 single base substitution G A intron_variant MELA-AU 2 27696659 27696659 single base substitution G A upstream_gene_variant MELA-AU 2 27697011 27697011 single base substitution C G intron_variant MELA-AU 2 27697011 27697011 single base substitution C G upstream_gene_variant MELA-AU 2 27697236 27697236 single base substitution G A intron_variant MELA-AU 2 27697236 27697236 single base substitution G A upstream_gene_variant MELA-AU 2 27697257 27697257 single base substitution T A intron_variant MELA-AU 2 27697257 27697257 single base substitution T A upstream_gene_variant MELA-AU 2 27697320 27697320 single base substitution C T intron_variant MELA-AU 2 27697320 27697320 single base substitution C T upstream_gene_variant MELA-AU 2 27698257 27698257 single base substitution G A intron_variant MELA-AU 2 27698257 27698257 single base substitution G A upstream_gene_variant MELA-AU 2 27698558 27698558 single base substitution G A intron_variant MELA-AU 2 27698558 27698558 single base substitution G A upstream_gene_variant MELA-AU 2 27698561 27698561 single base substitution G A intron_variant MELA-AU 2 27698561 27698561 single base substitution G A upstream_gene_variant MELA-AU 2 27699055 27699055 single base substitution G A intron_variant MELA-AU 2 27699055 27699055 single base substitution G A upstream_gene_variant MELA-AU 2 27699413 27699413 single base substitution G A intron_variant MELA-AU 2 27700010 27700010 single base substitution G A exon_variant MELA-AU 2 27700010 27700010 single base substitution G A intron_variant MELA-AU 2 27700039 27700039 single base substitution G A exon_variant MELA-AU 2 27700039 27700039 single base substitution G A intron_variant MELA-AU 2 27700049 27700049 single base substitution G A exon_variant MELA-AU 2 27700049 27700049 single base substitution G A intron_variant MELA-AU 2 27700134 27700134 single base substitution A G exon_variant MELA-AU 2 27700134 27700134 single base substitution A G synonymous_variant N404N 1212T>C MELA-AU 2 27700134 27700134 single base substitution A G synonymous_variant N425N 1275T>C MELA-AU 2 27700188 27700188 single base substitution C T splice_acceptor_variant MELA-AU 2 27700192 27700192 single base substitution G A splice_region_variant MELA-AU 2 27700199 27700199 single base substitution G A intron_variant MELA-AU 2 27700773 27700773 single base substitution G A intron_variant MELA-AU 2 27701116 27701116 single base substitution C T intron_variant MELA-AU 2 27701619 27701619 single base substitution G A intron_variant MELA-AU 2 27701865 27701865 single base substitution G A downstream_gene_variant MELA-AU 2 27701865 27701865 single base substitution G A intron_variant MELA-AU 2 27702226 27702226 single base substitution T C downstream_gene_variant MELA-AU 2 27702226 27702226 single base substitution T C intron_variant MELA-AU 2 27702269 27702269 single base substitution G A downstream_gene_variant MELA-AU 2 27702269 27702269 single base substitution G A intron_variant MELA-AU 2 27702599 27702599 single base substitution G A downstream_gene_variant MELA-AU 2 27702599 27702599 single base substitution G A intron_variant MELA-AU 2 27702759 27702759 single base substitution C A downstream_gene_variant MELA-AU 2 27702759 27702759 single base substitution C A intron_variant MELA-AU 2 27702835 27702835 single base substitution G A downstream_gene_variant MELA-AU 2 27702835 27702835 single base substitution G A intron_variant MELA-AU 2 27703079 27703079 single base substitution G A downstream_gene_variant MELA-AU 2 27703079 27703079 single base substitution G A intron_variant MELA-AU 2 27703090 27703090 single base substitution G A downstream_gene_variant MELA-AU 2 27703090 27703090 single base substitution G A intron_variant MELA-AU 2 27703295 27703295 single base substitution G A downstream_gene_variant MELA-AU 2 27703295 27703295 single base substitution G A intron_variant MELA-AU 2 27703426 27703426 single base substitution G A downstream_gene_variant MELA-AU 2 27703426 27703426 single base substitution G A intron_variant MELA-AU 2 27703652 27703652 single base substitution G A downstream_gene_variant MELA-AU 2 27703652 27703652 single base substitution G A intron_variant MELA-AU 2 27704398 27704398 single base substitution G A downstream_gene_variant MELA-AU 2 27704398 27704398 single base substitution G A intron_variant MELA-AU 2 27704487 27704487 single base substitution A G downstream_gene_variant MELA-AU 2 27704487 27704487 single base substitution A G intron_variant MELA-AU 2 27705830 27705830 single base substitution G A downstream_gene_variant MELA-AU 2 27705830 27705830 single base substitution G A intron_variant MELA-AU 2 27706523 27706523 single base substitution G A downstream_gene_variant MELA-AU 2 27706523 27706523 single base substitution G A exon_variant MELA-AU 2 27706523 27706523 single base substitution G A missense_variant R115C 343C>T MELA-AU 2 27706523 27706523 single base substitution G A missense_variant R136C 406C>T MELA-AU 2 27706597 27706597 single base substitution G A downstream_gene_variant MELA-AU 2 27706597 27706597 single base substitution G A intron_variant MELA-AU 2 27706816 27706816 single base substitution G A exon_variant MELA-AU 2 27706816 27706816 single base substitution G A intron_variant MELA-AU 2 27707076 27707076 single base substitution G A exon_variant MELA-AU 2 27707076 27707076 single base substitution G A intron_variant MELA-AU 2 27707702 27707702 single base substitution G A intron_variant MELA-AU 2 27709178 27709178 single base substitution G A intron_variant MELA-AU 2 27709368 27709368 single base substitution C T intron_variant MELA-AU 2 27709634 27709634 single base substitution G C intron_variant MELA-AU 2 27709773 27709773 single base substitution C T intron_variant MELA-AU 2 27710167 27710167 single base substitution G A intron_variant MELA-AU 2 27710450 27710450 single base substitution G A intron_variant MELA-AU 2 27710467 27710467 single base substitution A G intron_variant MELA-AU 2 27710555 27710555 single base substitution G A intron_variant MELA-AU 2 27711464 27711464 single base substitution G A intron_variant MELA-AU 2 27711941 27711941 single base substitution G A intron_variant MELA-AU 2 27712213 27712213 single base substitution G A intron_variant MELA-AU 2 27712879 27712879 single base substitution C T upstream_gene_variant MELA-AU 2 27713084 27713085 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 2 27713473 27713473 single base substitution G A upstream_gene_variant MELA-AU 2 27713548 27713548 single base substitution C T upstream_gene_variant MELA-AU 2 27713558 27713558 single base substitution G A upstream_gene_variant MELA-AU 2 27714060 27714060 single base substitution C T upstream_gene_variant MELA-AU 2 27714073 27714073 single base substitution G A upstream_gene_variant MELA-AU 2 27714105 27714105 single base substitution G A upstream_gene_variant MELA-AU 2 27714280 27714280 single base substitution G A upstream_gene_variant MELA-AU 2 27714531 27714531 single base substitution G A upstream_gene_variant MELA-AU 2 27715000 27715000 single base substitution G A upstream_gene_variant MELA-AU 2 27715044 27715044 single base substitution G A upstream_gene_variant MELA-AU 2 27715165 27715165 single base substitution G A upstream_gene_variant MELA-AU 2 27715247 27715247 single base substitution C T upstream_gene_variant MELA-AU 2 27715638 27715638 single base substitution G A upstream_gene_variant MELA-AU 2 27715805 27715805 single base substitution C T upstream_gene_variant MELA-AU 2 27715910 27715910 single base substitution C T upstream_gene_variant MELA-AU 2 27715939 27715939 single base substitution G A upstream_gene_variant MELA-AU 2 27716338 27716338 single base substitution G A upstream_gene_variant MELA-AU 2 27716409 27716409 single base substitution G A upstream_gene_variant MELA-AU 2 27716667 27716667 single base substitution C T upstream_gene_variant MELA-AU 2 27716845 27716846 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 27717446 27717446 single base substitution A G upstream_gene_variant MELA-AU 2 27717512 27717512 single base substitution C A upstream_gene_variant ORCA-IN 2 27688732 27688732 single base substitution C T downstream_gene_variant ORCA-IN 2 27688732 27688732 single base substitution C T exon_variant ORCA-IN 2 27688732 27688732 single base substitution C T synonymous_variant L570L 1710G>A ORCA-IN 2 27700246 27700246 single base substitution G A intron_variant ORCA-IN 2 27716751 27716751 single base substitution G T upstream_gene_variant OV-AU 2 27662982 27662982 single base substitution G T downstream_gene_variant OV-AU 2 27665196 27665196 single base substitution G C downstream_gene_variant OV-AU 2 27668918 27668918 single base substitution G C downstream_gene_variant OV-AU 2 27668918 27668918 single base substitution G C exon_variant OV-AU 2 27668918 27668918 single base substitution G C intron_variant OV-AU 2 27669224 27669224 single base substitution T A downstream_gene_variant OV-AU 2 27669224 27669224 single base substitution T A splice_acceptor_variant OV-AU 2 27669224 27669224 single base substitution T A upstream_gene_variant OV-AU 2 27670749 27670749 single base substitution C A downstream_gene_variant OV-AU 2 27670749 27670749 single base substitution C A exon_variant OV-AU 2 27670749 27670749 single base substitution C A missense_variant S1490I 4469G>T OV-AU 2 27670749 27670749 single base substitution C A upstream_gene_variant OV-AU 2 27671552 27671552 single base substitution C T downstream_gene_variant OV-AU 2 27671552 27671552 single base substitution C T intron_variant OV-AU 2 27671552 27671552 single base substitution C T upstream_gene_variant OV-AU 2 27676797 27676797 single base substitution G A downstream_gene_variant OV-AU 2 27676797 27676797 single base substitution G A intron_variant OV-AU 2 27676797 27676797 single base substitution G A upstream_gene_variant OV-AU 2 27689228 27689228 single base substitution G A downstream_gene_variant OV-AU 2 27689228 27689228 single base substitution G A intron_variant OV-AU 2 27689228 27689228 single base substitution G A upstream_gene_variant OV-AU 2 27689886 27689886 single base substitution C T downstream_gene_variant OV-AU 2 27689886 27689886 single base substitution C T intron_variant OV-AU 2 27689886 27689886 single base substitution C T upstream_gene_variant OV-AU 2 27694418 27694418 single base substitution C A downstream_gene_variant OV-AU 2 27694418 27694418 single base substitution C A intron_variant OV-AU 2 27694418 27694418 single base substitution C A upstream_gene_variant OV-AU 2 27705983 27705983 single base substitution A T downstream_gene_variant OV-AU 2 27705983 27705983 single base substitution A T intron_variant OV-AU 2 27708963 27708963 single base substitution G C intron_variant OV-US 2 27708306 27708306 single base substitution G A exon_variant OV-US 2 27708306 27708306 single base substitution G A missense_variant T14I 41C>T OV-US 2 27708306 27708306 single base substitution G A missense_variant T35I 104C>T PACA-AU 2 27663592 27663592 single base substitution G A downstream_gene_variant PACA-AU 2 27665454 27665474 deletion of <=200bp CGGGGGCCCAGGCGGCTGATG - downstream_gene_variant PACA-AU 2 27666026 27666041 deletion of <=200bp CTGTGGCCAACGGTGG - downstream_gene_variant PACA-AU 2 27675335 27675335 single base substitution A G downstream_gene_variant PACA-AU 2 27675335 27675335 single base substitution A G intron_variant PACA-AU 2 27675335 27675335 single base substitution A G upstream_gene_variant PACA-AU 2 27676504 27676504 single base substitution C T downstream_gene_variant PACA-AU 2 27676504 27676504 single base substitution C T exon_variant PACA-AU 2 27676504 27676504 single base substitution C T intron_variant PACA-AU 2 27676504 27676504 single base substitution C T missense_variant G1272R 3814G>A PACA-AU 2 27676504 27676504 single base substitution C T missense_variant G140R 418G>A PACA-AU 2 27676579 27676579 single base substitution G A downstream_gene_variant PACA-AU 2 27676579 27676579 single base substitution G A exon_variant PACA-AU 2 27676579 27676579 single base substitution G A intron_variant PACA-AU 2 27676579 27676579 single base substitution G A missense_variant R115C 343C>T PACA-AU 2 27676579 27676579 single base substitution G A missense_variant R1247C 3739C>T PACA-AU 2 27677443 27677443 single base substitution C T downstream_gene_variant PACA-AU 2 27677443 27677443 single base substitution C T exon_variant PACA-AU 2 27677443 27677443 single base substitution C T synonymous_variant L1152L 3456G>A PACA-AU 2 27677443 27677443 single base substitution C T synonymous_variant L20L 60G>A PACA-AU 2 27677443 27677443 single base substitution C T upstream_gene_variant PACA-AU 2 27677567 27677567 single base substitution C G downstream_gene_variant PACA-AU 2 27677567 27677567 single base substitution C G intron_variant PACA-AU 2 27677567 27677567 single base substitution C G upstream_gene_variant PACA-AU 2 27698536 27698536 deletion of <=200bp T - intron_variant PACA-AU 2 27698536 27698536 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 27704321 27704321 single base substitution T C downstream_gene_variant PACA-AU 2 27704321 27704321 single base substitution T C intron_variant PACA-AU 2 27709046 27709046 single base substitution C T 5_prime_UTR_variant PACA-AU 2 27709046 27709046 single base substitution C T exon_variant PACA-AU 2 27709046 27709046 single base substitution C T intron_variant PACA-CA 2 27666691 27666691 single base substitution C T downstream_gene_variant PACA-CA 2 27669445 27669445 single base substitution A T downstream_gene_variant PACA-CA 2 27669445 27669445 single base substitution A T intron_variant PACA-CA 2 27669445 27669445 single base substitution A T upstream_gene_variant PACA-CA 2 27670986 27670986 single base substitution G C downstream_gene_variant PACA-CA 2 27670986 27670986 single base substitution G C intron_variant PACA-CA 2 27670986 27670986 single base substitution G C upstream_gene_variant PACA-CA 2 27672459 27672459 single base substitution C T downstream_gene_variant PACA-CA 2 27672459 27672459 single base substitution C T intron_variant PACA-CA 2 27672459 27672459 single base substitution C T upstream_gene_variant PACA-CA 2 27673408 27673408 single base substitution G T downstream_gene_variant PACA-CA 2 27673408 27673408 single base substitution G T intron_variant PACA-CA 2 27673408 27673408 single base substitution G T upstream_gene_variant PACA-CA 2 27673708 27673708 single base substitution C T downstream_gene_variant PACA-CA 2 27673708 27673708 single base substitution C T intron_variant PACA-CA 2 27673708 27673708 single base substitution C T upstream_gene_variant PACA-CA 2 27678580 27678580 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 27678580 27678580 deletion of <=200bp A - intron_variant PACA-CA 2 27678580 27678580 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 27688728 27688728 single base substitution G A downstream_gene_variant PACA-CA 2 27688728 27688728 single base substitution G A exon_variant PACA-CA 2 27688728 27688728 single base substitution G A missense_variant R572W 1714C>T PACA-CA 2 27693118 27693121 deletion of <=200bp AGAG - downstream_gene_variant PACA-CA 2 27693118 27693121 deletion of <=200bp AGAG - intron_variant PACA-CA 2 27693118 27693121 deletion of <=200bp AGAG - upstream_gene_variant PACA-CA 2 27693163 27693163 single base substitution T A downstream_gene_variant PACA-CA 2 27693163 27693163 single base substitution T A intron_variant PACA-CA 2 27693163 27693163 single base substitution T A upstream_gene_variant PACA-CA 2 27695163 27695163 single base substitution A G downstream_gene_variant PACA-CA 2 27695163 27695163 single base substitution A G exon_variant PACA-CA 2 27695163 27695163 single base substitution A G missense_variant L472P 1415T>C PACA-CA 2 27695163 27695163 single base substitution A G missense_variant L493P 1478T>C PACA-CA 2 27695163 27695163 single base substitution A G upstream_gene_variant PACA-CA 2 27702490 27702490 single base substitution G A downstream_gene_variant PACA-CA 2 27702490 27702490 single base substitution G A intron_variant PACA-CA 2 27704321 27704321 single base substitution T C downstream_gene_variant PACA-CA 2 27704321 27704321 single base substitution T C intron_variant PACA-CA 2 27704323 27704323 single base substitution C T downstream_gene_variant PACA-CA 2 27704323 27704323 single base substitution C T intron_variant PACA-CA 2 27705097 27705097 single base substitution G A downstream_gene_variant PACA-CA 2 27705097 27705097 single base substitution G A intron_variant PACA-CA 2 27706157 27706157 single base substitution T C downstream_gene_variant PACA-CA 2 27706157 27706157 single base substitution T C missense_variant Q169R 506A>G PACA-CA 2 27706157 27706157 single base substitution T C missense_variant Q190R 569A>G PACA-CA 2 27706157 27706157 single base substitution T C splice_region_variant PACA-CA 2 27707088 27707088 single base substitution C T exon_variant PACA-CA 2 27707088 27707088 single base substitution C T splice_region_variant PACA-CA 2 27709046 27709046 single base substitution C T 5_prime_UTR_variant PACA-CA 2 27709046 27709046 single base substitution C T exon_variant PACA-CA 2 27709046 27709046 single base substitution C T intron_variant PACA-CA 2 27712466 27712466 single base substitution G A intron_variant PACA-CA 2 27716589 27716589 single base substitution G A upstream_gene_variant PACA-CA 2 27716645 27716645 single base substitution C A upstream_gene_variant PAEN-AU 2 27695431 27695431 single base substitution G A intron_variant PAEN-AU 2 27695431 27695431 single base substitution G A upstream_gene_variant PAEN-AU 2 27704323 27704323 single base substitution C T downstream_gene_variant PAEN-AU 2 27704323 27704323 single base substitution C T intron_variant PAEN-IT 2 27673229 27673229 single base substitution C T downstream_gene_variant PAEN-IT 2 27673229 27673229 single base substitution C T intron_variant PAEN-IT 2 27673229 27673229 single base substitution C T upstream_gene_variant PAEN-IT 2 27700833 27700833 single base substitution C A intron_variant PAEN-IT 2 27703610 27703610 single base substitution A G downstream_gene_variant PAEN-IT 2 27703610 27703610 single base substitution A G intron_variant PBCA-DE 2 27676830 27676830 single base substitution C T downstream_gene_variant PBCA-DE 2 27676830 27676830 single base substitution C T intron_variant PBCA-DE 2 27676830 27676830 single base substitution C T upstream_gene_variant PBCA-DE 2 27681005 27681005 single base substitution C T exon_variant PBCA-DE 2 27681005 27681005 single base substitution C T missense_variant R988H 2963G>A PBCA-DE 2 27681005 27681005 single base substitution C T upstream_gene_variant PBCA-DE 2 27704497 27704497 deletion of <=200bp C - downstream_gene_variant PBCA-DE 2 27704497 27704497 deletion of <=200bp C - intron_variant PBCA-DE 2 27712738 27712738 single base substitution T C upstream_gene_variant PRAD-CA 2 27681654 27681654 single base substitution C T exon_variant PRAD-CA 2 27681654 27681654 single base substitution C T missense_variant A957T 2869G>A PRAD-CA 2 27681654 27681654 single base substitution C T upstream_gene_variant PRAD-CA 2 27691729 27691729 single base substitution G A downstream_gene_variant PRAD-CA 2 27691729 27691729 single base substitution G A intron_variant PRAD-CA 2 27691729 27691729 single base substitution G A upstream_gene_variant PRAD-CA 2 27715018 27715018 single base substitution C T upstream_gene_variant PRAD-UK 2 27682407 27682407 single base substitution G T intron_variant PRAD-UK 2 27682407 27682407 single base substitution G T upstream_gene_variant PRAD-UK 2 27686484 27686484 single base substitution G T downstream_gene_variant PRAD-UK 2 27686484 27686484 single base substitution G T intron_variant PRAD-UK 2 27686484 27686484 single base substitution G T upstream_gene_variant PRAD-UK 2 27686505 27686505 single base substitution G T downstream_gene_variant PRAD-UK 2 27686505 27686505 single base substitution G T intron_variant PRAD-UK 2 27686505 27686505 single base substitution G T upstream_gene_variant PRAD-US 2 27662756 27662756 single base substitution G C downstream_gene_variant PRAD-US 2 27677277 27677277 single base substitution G A downstream_gene_variant PRAD-US 2 27677277 27677277 single base substitution G A exon_variant PRAD-US 2 27677277 27677277 single base substitution G A synonymous_variant F1158F 3474C>T PRAD-US 2 27677277 27677277 single base substitution G A synonymous_variant F26F 78C>T PRAD-US 2 27677277 27677277 single base substitution G A upstream_gene_variant PRAD-US 2 27682634 27682634 single base substitution C T exon_variant PRAD-US 2 27682634 27682634 single base substitution C T missense_variant D862N 2584G>A PRAD-US 2 27682634 27682634 single base substitution C T upstream_gene_variant PRAD-US 2 27688651 27688651 single base substitution G A downstream_gene_variant PRAD-US 2 27688651 27688651 single base substitution G A exon_variant PRAD-US 2 27688651 27688651 single base substitution G A synonymous_variant I597I 1791C>T READ-US 2 27664625 27664625 single base substitution C T downstream_gene_variant READ-US 2 27668812 27668812 single base substitution A C 3_prime_UTR_variant READ-US 2 27668812 27668812 single base substitution A C downstream_gene_variant READ-US 2 27668812 27668812 single base substitution A C exon_variant READ-US 2 27668812 27668812 single base substitution A C missense_variant F1600C 4799T>G READ-US 2 27672387 27672387 single base substitution C A 3_prime_UTR_variant READ-US 2 27672387 27672387 single base substitution C A downstream_gene_variant READ-US 2 27672387 27672387 single base substitution C A exon_variant READ-US 2 27672387 27672387 single base substitution C A missense_variant K1401N 4203G>T READ-US 2 27672387 27672387 single base substitution C A upstream_gene_variant READ-US 2 27684212 27684212 single base substitution C T downstream_gene_variant READ-US 2 27684212 27684212 single base substitution C T exon_variant READ-US 2 27684212 27684212 single base substitution C T missense_variant R789Q 2366G>A READ-US 2 27684212 27684212 single base substitution C T upstream_gene_variant READ-US 2 27688653 27688653 single base substitution T C downstream_gene_variant READ-US 2 27688653 27688653 single base substitution T C exon_variant READ-US 2 27688653 27688653 single base substitution T C missense_variant I597V 1789A>G READ-US 2 27700428 27700428 single base substitution T C missense_variant N386D 1156A>G READ-US 2 27700428 27700428 single base substitution T C missense_variant N407D 1219A>G READ-US 2 27700428 27700428 single base substitution T C splice_region_variant READ-US 2 27715319 27715319 single base substitution G A upstream_gene_variant RECA-EU 2 27666973 27666973 single base substitution G A downstream_gene_variant RECA-EU 2 27674339 27674339 single base substitution G C downstream_gene_variant RECA-EU 2 27674339 27674339 single base substitution G C intron_variant RECA-EU 2 27674339 27674339 single base substitution G C upstream_gene_variant RECA-EU 2 27679105 27679105 single base substitution G A downstream_gene_variant RECA-EU 2 27679105 27679105 single base substitution G A intron_variant RECA-EU 2 27679105 27679105 single base substitution G A upstream_gene_variant RECA-EU 2 27698788 27698788 single base substitution T A intron_variant RECA-EU 2 27698788 27698788 single base substitution T A upstream_gene_variant RECA-EU 2 27699571 27699571 single base substitution G T exon_variant RECA-EU 2 27699571 27699571 single base substitution G T missense_variant Q429K 1285C>A RECA-EU 2 27699571 27699571 single base substitution G T missense_variant Q450K 1348C>A RECA-EU 2 27707589 27707589 single base substitution G C intron_variant SKCA-BR 2 27664801 27664801 single base substitution G A downstream_gene_variant SKCA-BR 2 27664819 27664819 single base substitution C T downstream_gene_variant SKCA-BR 2 27665231 27665231 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 2 27665340 27665340 single base substitution A C downstream_gene_variant SKCA-BR 2 27670896 27670896 single base substitution G T downstream_gene_variant SKCA-BR 2 27670896 27670896 single base substitution G T intron_variant SKCA-BR 2 27670896 27670896 single base substitution G T upstream_gene_variant SKCA-BR 2 27673816 27673816 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 2 27673816 27673816 insertion of <=200bp - CT intron_variant SKCA-BR 2 27673816 27673816 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 27678900 27678901 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 2 27678900 27678901 deletion of <=200bp GA - intron_variant SKCA-BR 2 27678900 27678901 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 2 27678903 27678903 single base substitution A C downstream_gene_variant SKCA-BR 2 27678903 27678903 single base substitution A C intron_variant SKCA-BR 2 27678903 27678903 single base substitution A C upstream_gene_variant SKCA-BR 2 27680574 27680574 single base substitution C T downstream_gene_variant SKCA-BR 2 27680574 27680574 single base substitution C T exon_variant SKCA-BR 2 27680574 27680574 single base substitution C T missense_variant E1054K 3160G>A SKCA-BR 2 27680574 27680574 single base substitution C T upstream_gene_variant SKCA-BR 2 27681460 27681460 single base substitution G A intron_variant SKCA-BR 2 27681460 27681460 single base substitution G A upstream_gene_variant SKCA-BR 2 27683945 27683945 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 2 27683945 27683945 insertion of <=200bp - CA exon_variant SKCA-BR 2 27683945 27683945 insertion of <=200bp - CA frameshift_variant E820V? SKCA-BR 2 27683945 27683945 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 27684123 27684123 single base substitution G A downstream_gene_variant SKCA-BR 2 27684123 27684123 single base substitution G A intron_variant SKCA-BR 2 27684123 27684123 single base substitution G A upstream_gene_variant SKCA-BR 2 27684592 27684592 single base substitution T G downstream_gene_variant SKCA-BR 2 27684592 27684592 single base substitution T G intron_variant SKCA-BR 2 27684592 27684592 single base substitution T G upstream_gene_variant SKCA-BR 2 27684689 27684689 single base substitution C A downstream_gene_variant SKCA-BR 2 27684689 27684689 single base substitution C A exon_variant SKCA-BR 2 27684689 27684689 single base substitution C A missense_variant E710D 2130G>T SKCA-BR 2 27684689 27684689 single base substitution C A upstream_gene_variant SKCA-BR 2 27687280 27687280 single base substitution C A downstream_gene_variant SKCA-BR 2 27687280 27687280 single base substitution C A intron_variant SKCA-BR 2 27687792 27687792 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 2 27687792 27687792 insertion of <=200bp - AT intron_variant SKCA-BR 2 27689508 27689508 single base substitution G A downstream_gene_variant SKCA-BR 2 27689508 27689508 single base substitution G A intron_variant SKCA-BR 2 27689508 27689508 single base substitution G A upstream_gene_variant SKCA-BR 2 27695419 27695419 single base substitution G A intron_variant SKCA-BR 2 27695419 27695419 single base substitution G A upstream_gene_variant SKCA-BR 2 27695420 27695420 single base substitution G A intron_variant SKCA-BR 2 27695420 27695420 single base substitution G A upstream_gene_variant SKCA-BR 2 27696274 27696274 single base substitution A T intron_variant SKCA-BR 2 27696274 27696274 single base substitution A T upstream_gene_variant SKCA-BR 2 27696815 27696815 single base substitution T G intron_variant SKCA-BR 2 27696815 27696815 single base substitution T G upstream_gene_variant SKCA-BR 2 27697726 27697726 insertion of <=200bp - GT intron_variant SKCA-BR 2 27697726 27697726 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 2 27701390 27701390 single base substitution G A intron_variant SKCA-BR 2 27702324 27702324 single base substitution G A downstream_gene_variant SKCA-BR 2 27702324 27702324 single base substitution G A intron_variant SKCA-BR 2 27703179 27703179 single base substitution G A downstream_gene_variant SKCA-BR 2 27703179 27703179 single base substitution G A intron_variant SKCA-BR 2 27704597 27704597 single base substitution G A downstream_gene_variant SKCA-BR 2 27704597 27704597 single base substitution G A intron_variant SKCA-BR 2 27706215 27706215 single base substitution G A downstream_gene_variant SKCA-BR 2 27706215 27706215 single base substitution G A exon_variant SKCA-BR 2 27706215 27706215 single base substitution G A missense_variant H150Y 448C>T SKCA-BR 2 27706215 27706215 single base substitution G A missense_variant H171Y 511C>T SKCA-BR 2 27706934 27706934 single base substitution G A exon_variant SKCA-BR 2 27706934 27706934 single base substitution G A intron_variant SKCA-BR 2 27711256 27711256 single base substitution G A intron_variant SKCA-BR 2 27711257 27711257 insertion of <=200bp - GGACT intron_variant SKCA-BR 2 27712423 27712423 single base substitution C T intron_variant SKCA-BR 2 27713834 27713834 single base substitution G A upstream_gene_variant SKCA-BR 2 27716823 27716823 single base substitution C G upstream_gene_variant SKCM-US 2 27663753 27663753 insertion of <=200bp - C downstream_gene_variant SKCM-US 2 27664672 27664672 single base substitution C T downstream_gene_variant SKCM-US 2 27666038 27666038 single base substitution G A downstream_gene_variant SKCM-US 2 27672393 27672393 single base substitution G A 3_prime_UTR_variant SKCM-US 2 27672393 27672393 single base substitution G A downstream_gene_variant SKCM-US 2 27672393 27672393 single base substitution G A exon_variant SKCM-US 2 27672393 27672393 single base substitution G A synonymous_variant F1399F 4197C>T SKCM-US 2 27672393 27672393 single base substitution G A upstream_gene_variant SKCM-US 2 27672907 27672907 single base substitution C A 3_prime_UTR_variant SKCM-US 2 27672907 27672907 single base substitution C A downstream_gene_variant SKCM-US 2 27672907 27672907 single base substitution C A exon_variant SKCM-US 2 27672907 27672907 single base substitution C A synonymous_variant L1336L 4008G>T SKCM-US 2 27672907 27672907 single base substitution C A upstream_gene_variant SKCM-US 2 27672913 27672913 single base substitution G A 3_prime_UTR_variant SKCM-US 2 27672913 27672913 single base substitution G A downstream_gene_variant SKCM-US 2 27672913 27672913 single base substitution G A exon_variant SKCM-US 2 27672913 27672913 single base substitution G A synonymous_variant V1334V 4002C>T SKCM-US 2 27672913 27672913 single base substitution G A upstream_gene_variant SKCM-US 2 27672935 27672935 single base substitution G A 3_prime_UTR_variant SKCM-US 2 27672935 27672935 single base substitution G A downstream_gene_variant SKCM-US 2 27672935 27672935 single base substitution G A exon_variant SKCM-US 2 27672935 27672935 single base substitution G A missense_variant P1327L 3980C>T SKCM-US 2 27672935 27672935 single base substitution G A upstream_gene_variant SKCM-US 2 27676352 27676352 single base substitution G A downstream_gene_variant SKCM-US 2 27676352 27676352 single base substitution G A exon_variant SKCM-US 2 27676352 27676352 single base substitution G A stop_gained R1284* 3850C>T SKCM-US 2 27676352 27676352 single base substitution G A stop_gained R152* 454C>T SKCM-US 2 27676565 27676565 single base substitution G T downstream_gene_variant SKCM-US 2 27676565 27676565 single base substitution G T exon_variant SKCM-US 2 27676565 27676565 single base substitution G T intron_variant SKCM-US 2 27676565 27676565 single base substitution G T missense_variant D119E 357C>A SKCM-US 2 27676565 27676565 single base substitution G T missense_variant D1251E 3753C>A SKCM-US 2 27676582 27676582 single base substitution G T downstream_gene_variant SKCM-US 2 27676582 27676582 single base substitution G T exon_variant SKCM-US 2 27676582 27676582 single base substitution G T intron_variant SKCM-US 2 27676582 27676582 single base substitution G T missense_variant L114M 340C>A SKCM-US 2 27676582 27676582 single base substitution G T missense_variant L1246M 3736C>A SKCM-US 2 27676933 27676933 single base substitution C T downstream_gene_variant SKCM-US 2 27676933 27676933 single base substitution C T exon_variant SKCM-US 2 27676933 27676933 single base substitution C T synonymous_variant G1209G 3627G>A SKCM-US 2 27676933 27676933 single base substitution C T synonymous_variant G77G 231G>A SKCM-US 2 27676933 27676933 single base substitution C T upstream_gene_variant SKCM-US 2 27677285 27677285 single base substitution C T downstream_gene_variant SKCM-US 2 27677285 27677285 single base substitution C T missense_variant G1156S 3466G>A SKCM-US 2 27677285 27677285 single base substitution C T missense_variant G24S 70G>A SKCM-US 2 27677285 27677285 single base substitution C T splice_region_variant SKCM-US 2 27677285 27677285 single base substitution C T upstream_gene_variant SKCM-US 2 27680767 27680767 single base substitution G C exon_variant SKCM-US 2 27680767 27680767 single base substitution G C missense_variant R1018G 3052C>G SKCM-US 2 27680767 27680767 single base substitution G C upstream_gene_variant SKCM-US 2 27681043 27681043 single base substitution G A exon_variant SKCM-US 2 27681043 27681043 single base substitution G A synonymous_variant I975I 2925C>T SKCM-US 2 27681043 27681043 single base substitution G A upstream_gene_variant SKCM-US 2 27684212 27684212 single base substitution C T downstream_gene_variant SKCM-US 2 27684212 27684212 single base substitution C T exon_variant SKCM-US 2 27684212 27684212 single base substitution C T missense_variant R789Q 2366G>A SKCM-US 2 27684212 27684212 single base substitution C T upstream_gene_variant SKCM-US 2 27693920 27693920 single base substitution G A downstream_gene_variant SKCM-US 2 27693920 27693920 single base substitution G A exon_variant SKCM-US 2 27693920 27693920 single base substitution G A missense_variant L523F 1567C>T SKCM-US 2 27693920 27693920 single base substitution G A upstream_gene_variant SKCM-US 2 27695119 27695119 single base substitution G A downstream_gene_variant SKCM-US 2 27695119 27695119 single base substitution G A missense_variant R487C 1459C>T SKCM-US 2 27695119 27695119 single base substitution G A missense_variant R508C 1522C>T SKCM-US 2 27695119 27695119 single base substitution G A splice_region_variant SKCM-US 2 27695119 27695119 single base substitution G A upstream_gene_variant SKCM-US 2 27695224 27695224 single base substitution G A exon_variant SKCM-US 2 27695224 27695224 single base substitution G A synonymous_variant L452L 1354C>T SKCM-US 2 27695224 27695224 single base substitution G A synonymous_variant L473L 1417C>T SKCM-US 2 27695224 27695224 single base substitution G A upstream_gene_variant SKCM-US 2 27699589 27699589 single base substitution G A exon_variant SKCM-US 2 27699589 27699589 single base substitution G A missense_variant R423C 1267C>T SKCM-US 2 27699589 27699589 single base substitution G A missense_variant R444C 1330C>T SKCM-US 2 27700134 27700134 single base substitution A G exon_variant SKCM-US 2 27700134 27700134 single base substitution A G synonymous_variant N404N 1212T>C SKCM-US 2 27700134 27700134 single base substitution A G synonymous_variant N425N 1275T>C SKCM-US 2 27700155 27700155 single base substitution G A exon_variant SKCM-US 2 27700155 27700155 single base substitution G A synonymous_variant T397T 1191C>T SKCM-US 2 27700155 27700155 single base substitution G A synonymous_variant T418T 1254C>T SKCM-US 2 27700945 27700945 single base substitution T C exon_variant SKCM-US 2 27700945 27700945 single base substitution T C missense_variant I341V 1021A>G SKCM-US 2 27700945 27700945 single base substitution T C missense_variant I362V 1084A>G SKCM-US 2 27703012 27703012 single base substitution G A downstream_gene_variant SKCM-US 2 27703012 27703012 single base substitution G A exon_variant SKCM-US 2 27703012 27703012 single base substitution G A missense_variant R243W 727C>T SKCM-US 2 27703012 27703012 single base substitution G A missense_variant R264W 790C>T SKCM-US 2 27706224 27706224 single base substitution G A downstream_gene_variant SKCM-US 2 27706224 27706224 single base substitution G A exon_variant SKCM-US 2 27706224 27706224 single base substitution G A missense_variant L147F 439C>T SKCM-US 2 27706224 27706224 single base substitution G A missense_variant L168F 502C>T SKCM-US 2 27715556 27715556 single base substitution C T upstream_gene_variant SKCM-US 2 27715590 27715590 single base substitution C T upstream_gene_variant SKCM-US 2 27716322 27716322 single base substitution C T upstream_gene_variant SKCM-US 2 27716878 27716878 single base substitution C T upstream_gene_variant SKCM-US 2 27717446 27717446 single base substitution A G upstream_gene_variant STAD-US 2 27662650 27662650 single base substitution C T downstream_gene_variant STAD-US 2 27662758 27662758 single base substitution A G downstream_gene_variant STAD-US 2 27663726 27663726 single base substitution G A downstream_gene_variant STAD-US 2 27663749 27663749 single base substitution T C downstream_gene_variant STAD-US 2 27664014 27664014 single base substitution C T downstream_gene_variant STAD-US 2 27664199 27664199 single base substitution T C downstream_gene_variant STAD-US 2 27666007 27666009 deletion of <=200bp CTT - downstream_gene_variant STAD-US 2 27670413 27670413 single base substitution G A 3_prime_UTR_variant STAD-US 2 27670413 27670413 single base substitution G A downstream_gene_variant STAD-US 2 27670413 27670413 single base substitution G A exon_variant STAD-US 2 27670413 27670413 single base substitution G A missense_variant T1543M 4628C>T STAD-US 2 27670413 27670413 single base substitution G A upstream_gene_variant STAD-US 2 27676295 27676295 single base substitution G A downstream_gene_variant STAD-US 2 27676295 27676295 single base substitution G A exon_variant STAD-US 2 27676295 27676295 single base substitution G A stop_gained R1303* 3907C>T STAD-US 2 27676295 27676295 single base substitution G A stop_gained R171* 511C>T STAD-US 2 27676932 27676932 deletion of <=200bp C - downstream_gene_variant STAD-US 2 27676932 27676932 deletion of <=200bp C - exon_variant STAD-US 2 27676932 27676932 deletion of <=200bp C - frameshift_variant A1210 STAD-US 2 27676932 27676932 deletion of <=200bp C - frameshift_variant A78 STAD-US 2 27676932 27676932 deletion of <=200bp C - upstream_gene_variant STAD-US 2 27679392 27679392 single base substitution G A downstream_gene_variant STAD-US 2 27679392 27679392 single base substitution G A exon_variant STAD-US 2 27679392 27679392 single base substitution G A synonymous_variant H1119H 3357C>T STAD-US 2 27679392 27679392 single base substitution G A upstream_gene_variant STAD-US 2 27680796 27680796 single base substitution T C exon_variant STAD-US 2 27680796 27680796 single base substitution T C missense_variant K1008R 3023A>G STAD-US 2 27680796 27680796 single base substitution T C upstream_gene_variant STAD-US 2 27681051 27681051 single base substitution G A exon_variant STAD-US 2 27681051 27681051 single base substitution G A synonymous_variant L973L 2917C>T STAD-US 2 27681051 27681051 single base substitution G A upstream_gene_variant STAD-US 2 27682634 27682634 deletion of <=200bp C - exon_variant STAD-US 2 27682634 27682634 deletion of <=200bp C - frameshift_variant D862 STAD-US 2 27682634 27682634 deletion of <=200bp C - upstream_gene_variant STAD-US 2 27682647 27682647 single base substitution C A exon_variant STAD-US 2 27682647 27682647 single base substitution C A missense_variant E857D 2571G>T STAD-US 2 27682647 27682647 single base substitution C A upstream_gene_variant STAD-US 2 27682682 27682682 single base substitution G A exon_variant STAD-US 2 27682682 27682682 single base substitution G A stop_gained R846* 2536C>T STAD-US 2 27682682 27682682 single base substitution G A upstream_gene_variant STAD-US 2 27683894 27683894 single base substitution C T downstream_gene_variant STAD-US 2 27683894 27683894 single base substitution C T exon_variant STAD-US 2 27683894 27683894 single base substitution C T missense_variant A837T 2509G>A STAD-US 2 27683894 27683894 single base substitution C T upstream_gene_variant STAD-US 2 27683910 27683910 single base substitution G A downstream_gene_variant STAD-US 2 27683910 27683910 single base substitution G A exon_variant STAD-US 2 27683910 27683910 single base substitution G A synonymous_variant C831C 2493C>T STAD-US 2 27683910 27683910 single base substitution G A upstream_gene_variant STAD-US 2 27684208 27684208 single base substitution C A downstream_gene_variant STAD-US 2 27684208 27684208 single base substitution C A exon_variant STAD-US 2 27684208 27684208 single base substitution C A missense_variant E790D 2370G>T STAD-US 2 27684208 27684208 single base substitution C A upstream_gene_variant STAD-US 2 27684212 27684212 single base substitution C T downstream_gene_variant STAD-US 2 27684212 27684212 single base substitution C T exon_variant STAD-US 2 27684212 27684212 single base substitution C T missense_variant R789Q 2366G>A STAD-US 2 27684212 27684212 single base substitution C T upstream_gene_variant STAD-US 2 27684328 27684328 single base substitution T C downstream_gene_variant STAD-US 2 27684328 27684328 single base substitution T C exon_variant STAD-US 2 27684328 27684328 single base substitution T C synonymous_variant T750T 2250A>G STAD-US 2 27684328 27684328 single base substitution T C upstream_gene_variant STAD-US 2 27684350 27684350 single base substitution T C downstream_gene_variant STAD-US 2 27684350 27684350 single base substitution T C exon_variant STAD-US 2 27684350 27684350 single base substitution T C missense_variant Y743C 2228A>G STAD-US 2 27684350 27684350 single base substitution T C upstream_gene_variant STAD-US 2 27688651 27688651 single base substitution G A downstream_gene_variant STAD-US 2 27688651 27688651 single base substitution G A exon_variant STAD-US 2 27688651 27688651 single base substitution G A synonymous_variant I597I 1791C>T STAD-US 2 27688653 27688653 single base substitution T C downstream_gene_variant STAD-US 2 27688653 27688653 single base substitution T C exon_variant STAD-US 2 27688653 27688653 single base substitution T C missense_variant I597V 1789A>G STAD-US 2 27695182 27695182 single base substitution G A downstream_gene_variant STAD-US 2 27695182 27695182 single base substitution G A exon_variant STAD-US 2 27695182 27695182 single base substitution G A missense_variant R466C 1396C>T STAD-US 2 27695182 27695182 single base substitution G A missense_variant R487C 1459C>T STAD-US 2 27695182 27695182 single base substitution G A upstream_gene_variant STAD-US 2 27700448 27700448 single base substitution T C exon_variant STAD-US 2 27700448 27700448 single base substitution T C missense_variant K379R 1136A>G STAD-US 2 27700448 27700448 single base substitution T C missense_variant K400R 1199A>G STAD-US 2 27702965 27702965 single base substitution C T downstream_gene_variant STAD-US 2 27702965 27702965 single base substitution C T exon_variant STAD-US 2 27702965 27702965 single base substitution C T synonymous_variant K258K 774G>A STAD-US 2 27702965 27702965 single base substitution C T synonymous_variant K279K 837G>A STAD-US 2 27703932 27703932 single base substitution C T downstream_gene_variant STAD-US 2 27703932 27703932 single base substitution C T exon_variant STAD-US 2 27703932 27703932 single base substitution C T missense_variant V235M 703G>A STAD-US 2 27703932 27703932 single base substitution C T missense_variant V256M 766G>A STAD-US 2 27703942 27703942 single base substitution G C downstream_gene_variant STAD-US 2 27703942 27703942 single base substitution G C exon_variant STAD-US 2 27703942 27703942 single base substitution G C synonymous_variant G231G 693C>G STAD-US 2 27703942 27703942 single base substitution G C synonymous_variant G252G 756C>G STAD-US 2 27703943 27703943 deletion of <=200bp C - downstream_gene_variant STAD-US 2 27703943 27703943 deletion of <=200bp C - exon_variant STAD-US 2 27703943 27703943 deletion of <=200bp C - frameshift_variant G231 STAD-US 2 27703943 27703943 deletion of <=200bp C - frameshift_variant G252 STAD-US 2 27716887 27716887 single base substitution C T upstream_gene_variant STAD-US 2 27717235 27717235 single base substitution A C upstream_gene_variant THCA-SA 2 27667297 27667297 single base substitution A G 3_prime_UTR_variant THCA-SA 2 27667297 27667297 single base substitution A G downstream_gene_variant THCA-SA 2 27667297 27667297 single base substitution A G exon_variant THCA-SA 2 27676287 27676287 single base substitution A T downstream_gene_variant THCA-SA 2 27676287 27676287 single base substitution A T exon_variant THCA-SA 2 27676287 27676287 single base substitution A T synonymous_variant S1305S 3915T>A THCA-SA 2 27676287 27676287 single base substitution A T synonymous_variant S173S 519T>A THCA-SA 2 27715207 27715207 single base substitution T A upstream_gene_variant THCA-SA 2 27717517 27717517 deletion of <=200bp G - upstream_gene_variant THCA-US 2 27666263 27666263 single base substitution A C downstream_gene_variant UCEC-US 2 27663269 27663269 single base substitution G A downstream_gene_variant UCEC-US 2 27663710 27663710 single base substitution G A downstream_gene_variant UCEC-US 2 27663717 27663717 single base substitution G T downstream_gene_variant UCEC-US 2 27664438 27664438 single base substitution G T downstream_gene_variant UCEC-US 2 27665953 27665953 single base substitution C T downstream_gene_variant UCEC-US 2 27666007 27666009 deletion of <=200bp CTT - downstream_gene_variant UCEC-US 2 27666336 27666336 single base substitution C A downstream_gene_variant UCEC-US 2 27666897 27666897 single base substitution C T downstream_gene_variant UCEC-US 2 27669181 27669181 single base substitution G C 3_prime_UTR_variant UCEC-US 2 27669181 27669181 single base substitution G C downstream_gene_variant UCEC-US 2 27669181 27669181 single base substitution G C exon_variant UCEC-US 2 27669181 27669181 single base substitution G C missense_variant H1567Q 4701C>G UCEC-US 2 27669181 27669181 single base substitution G C upstream_gene_variant UCEC-US 2 27670410 27670410 single base substitution C T 3_prime_UTR_variant UCEC-US 2 27670410 27670410 single base substitution C T downstream_gene_variant UCEC-US 2 27670410 27670410 single base substitution C T exon_variant UCEC-US 2 27670410 27670410 single base substitution C T missense_variant R1544H 4631G>A UCEC-US 2 27670410 27670410 single base substitution C T upstream_gene_variant UCEC-US 2 27671846 27671846 single base substitution C T 3_prime_UTR_variant UCEC-US 2 27671846 27671846 single base substitution C T downstream_gene_variant UCEC-US 2 27671846 27671846 single base substitution C T exon_variant UCEC-US 2 27671846 27671846 single base substitution C T missense_variant R1455Q 4364G>A UCEC-US 2 27671846 27671846 single base substitution C T upstream_gene_variant UCEC-US 2 27672168 27672168 single base substitution G A 3_prime_UTR_variant UCEC-US 2 27672168 27672168 single base substitution G A downstream_gene_variant UCEC-US 2 27672168 27672168 single base substitution G A exon_variant UCEC-US 2 27672168 27672168 single base substitution G A missense_variant T1435I 4304C>T UCEC-US 2 27672168 27672168 single base substitution G A upstream_gene_variant UCEC-US 2 27672398 27672398 single base substitution C A 3_prime_UTR_variant UCEC-US 2 27672398 27672398 single base substitution C A downstream_gene_variant UCEC-US 2 27672398 27672398 single base substitution C A exon_variant UCEC-US 2 27672398 27672398 single base substitution C A stop_gained E1398* 4192G>T UCEC-US 2 27672398 27672398 single base substitution C A upstream_gene_variant UCEC-US 2 27672588 27672588 single base substitution G A 3_prime_UTR_variant UCEC-US 2 27672588 27672588 single base substitution G A downstream_gene_variant UCEC-US 2 27672588 27672588 single base substitution G A exon_variant UCEC-US 2 27672588 27672588 single base substitution G A missense_variant A1377V 4130C>T UCEC-US 2 27672588 27672588 single base substitution G A upstream_gene_variant UCEC-US 2 27676959 27676959 single base substitution C T downstream_gene_variant UCEC-US 2 27676959 27676959 single base substitution C T exon_variant UCEC-US 2 27676959 27676959 single base substitution C T missense_variant E1201K 3601G>A UCEC-US 2 27676959 27676959 single base substitution C T missense_variant E69K 205G>A UCEC-US 2 27676959 27676959 single base substitution C T upstream_gene_variant UCEC-US 2 27677499 27677499 single base substitution G A downstream_gene_variant UCEC-US 2 27677499 27677499 single base substitution G A exon_variant UCEC-US 2 27677499 27677499 single base substitution G A missense_variant R1134W 3400C>T UCEC-US 2 27677499 27677499 single base substitution G A missense_variant R2W 4C>T UCEC-US 2 27677499 27677499 single base substitution G A upstream_gene_variant UCEC-US 2 27680767 27680767 single base substitution G A exon_variant UCEC-US 2 27680767 27680767 single base substitution G A missense_variant R1018C 3052C>T UCEC-US 2 27680767 27680767 single base substitution G A upstream_gene_variant UCEC-US 2 27683889 27683889 single base substitution G T downstream_gene_variant UCEC-US 2 27683889 27683889 single base substitution G T exon_variant UCEC-US 2 27683889 27683889 single base substitution G T missense_variant F838L 2514C>A UCEC-US 2 27683889 27683889 single base substitution G T upstream_gene_variant UCEC-US 2 27688729 27688729 single base substitution C A downstream_gene_variant UCEC-US 2 27688729 27688729 single base substitution C A exon_variant UCEC-US 2 27688729 27688729 single base substitution C A missense_variant E571D 1713G>T UCEC-US 2 27693941 27693941 single base substitution T G downstream_gene_variant UCEC-US 2 27693941 27693941 single base substitution T G exon_variant UCEC-US 2 27693941 27693941 single base substitution T G missense_variant S516R 1546A>C UCEC-US 2 27693941 27693941 single base substitution T G upstream_gene_variant UCEC-US 2 27699521 27699521 single base substitution C A exon_variant UCEC-US 2 27699521 27699521 single base substitution C A missense_variant K445N 1335G>T UCEC-US 2 27699521 27699521 single base substitution C A missense_variant K466N 1398G>T UCEC-US 2 27706224 27706224 single base substitution G T downstream_gene_variant UCEC-US 2 27706224 27706224 single base substitution G T exon_variant UCEC-US 2 27706224 27706224 single base substitution G T missense_variant L147I 439C>A UCEC-US 2 27706224 27706224 single base substitution G T missense_variant L168I 502C>A UCEC-US 2 27706492 27706492 single base substitution G T downstream_gene_variant UCEC-US 2 27706492 27706492 single base substitution G T exon_variant UCEC-US 2 27706492 27706492 single base substitution G T missense_variant S125Y 374C>A UCEC-US 2 27706492 27706492 single base substitution G T missense_variant S146Y 437C>A UCEC-US 2 27707933 27707933 single base substitution A G exon_variant UCEC-US 2 27707933 27707933 single base substitution A G missense_variant I62T 185T>C UCEC-US 2 27707933 27707933 single base substitution A G missense_variant I83T 248T>C UCEC-US 2 27715551 27715551 single base substitution C T upstream_gene_variant UCEC-US 2 27715610 27715610 single base substitution C A upstream_gene_variant UCEC-US 2 27716824 27716824 single base substitution G A upstream_gene_variant UCEC-US 2 27716844 27716844 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LIM1899 COSM4613087 c.455_456delAG p.E152fs*26 Deletion - Frameshift 2:27483606-27483607 - TCGA-AN-A0AK-01 COSM3839291 c.4161-1G>T p.? Unknown 2:27449563-27449563 - CSCC-6-T COSM4506212 c.713C>T p.P238L Substitution - Missense 2:27481118-27481118 - ESO-0167 COSM1172865 c.5027C>T p.A1676V Substitution - Missense 2:27445337-27445337 - TCGA-EE-A181-06 COSM3580625 c.3850C>T p.R1284* Substitution - Nonsense 2:27453485-27453485 - STC291 COSM2940193 c.145C>T p.R49W Substitution - Missense 2:27485398-27485398 - TCGA-D7-5578-01 COSM184439 c.2509G>A p.A837T Substitution - Missense 2:27461027-27461027 - TCGA-AP-A051-01 COSM1019710 c.1546A>C p.S516R Substitution - Missense 2:27471074-27471074 - G18 COSM1191853 c.4994A>G p.D1665G Substitution - Missense 2:27445370-27445370 - TCGA-AA-A010-01 COSM281863 c.5044C>T p.R1682* Substitution - Nonsense 2:27445320-27445320 - TCGA-33-4533-01 COSM721415 c.4634C>T p.S1545F Substitution - Missense 2:27447540-27447540 - Au4 COSM5603785 c.1222-1G>A p.? Unknown 2:27477321-27477321 - TCGA-A5-A0VP-01 COSM1019716 c.437C>A p.S146Y Substitution - Missense 2:27483625-27483625 - ESOCB11T COSM1172865 c.5027C>T p.A1676V Substitution - Missense 2:27445337-27445337 - TCGA-BR-4363-01 COSM4093597 c.1459C>T p.R487C Substitution - Missense 2:27472315-27472315 - BCM695T COSM4802853 c.2739A>G p.K913K Substitution - coding silent 2:27459426-27459426 - TCGA-BR-8680-01 COSM4093590 c.2571G>T p.E857D Substitution - Missense 2:27459780-27459780 - SNUH_G26_S1 COSM3682631 c.1829+9C>A p.? Unknown 2:27465737-27465737 - TCGA-BR-4184-01 COSM4093595 c.2228A>G p.Y743C Substitution - Missense 2:27461483-27461483 - TCGA-GC-A3WC-01 COSM3798921 c.437C>G p.S146C Substitution - Missense 2:27483625-27483625 - TCGA-A8-A0A6-01 COSM3839300 c.1070T>G p.V357G Substitution - Missense 2:27478092-27478092 - 9227_T COSM5042379 c.1268G>A p.G423E Substitution - Missense 2:27477274-27477274 - 587336 COSM1210310 c.440C>T p.T147I Substitution - Missense 2:27483622-27483622 - T3336 COSM4691862 c.541T>G p.F181V Substitution - Missense 2:27483318-27483318 - BD55T COSM5509308 c.4051-9A>T p.? Unknown 2:27449809-27449809 - LIM2551 COSM4644440 c.4383G>A p.Q1461Q Substitution - coding silent 2:27448960-27448960 - TCGA-G4-6628-01 COSM1407466 c.2218C>T p.R740C Substitution - Missense 2:27461493-27461493 - I2L-P19Ta-Tumor-Biopsy COSM5354167 c.3308C>T p.A1103V Substitution - Missense 2:27456574-27456574 - TCGA-AA-3510-01 COSM1019704 c.3400C>T p.R1134W Substitution - Missense 2:27454632-27454632 - pfg043T COSM4751692 c.134A>G p.E45G Substitution - Missense 2:27485409-27485409 - TCGA-13-0890-01 COSM74975 c.104C>T p.T35I Substitution - Missense 2:27485439-27485439 - CPCG0362-F1 COSM4880828 c.2869G>A p.A957T Substitution - Missense 2:27458787-27458787 - B86 COSM1752509 c.2222G>A p.R741H Substitution - Missense 2:27461489-27461489 - BCM695T COSM4802853 c.2739A>G p.K913K Substitution - coding silent 2:27459426-27459426 - TCGA-A5-A0GH-01 COSM1019714 c.722G>A p.R241Q Substitution - Missense 2:27481109-27481109 - HCC49 COSM1614735 c.646G>A p.D216N Substitution - Missense 2:27481185-27481185 - TCGA-AP-A0LM-01 COSM1019705 c.3052C>T p.R1018C Substitution - Missense 2:27457900-27457900 - TCGA-AA-A00N-01 COSM275540 c.807C>T p.I269I Substitution - coding silent 2:27480128-27480128 - TCGA-EA-A50E-01 COSM4822187 c.149G>A p.R50K Substitution - Missense 2:27485394-27485394 - CHC1028T COSM4790929 c.4835T>C p.L1612P Substitution - Missense 2:27445824-27445824 - PT44 COSM5926348 c.2656G>T p.A886S Substitution - Missense 2:27459509-27459509 - OSCC-GB_00410111 COSM3713760 c.1710G>A p.L570L Substitution - coding silent 2:27465865-27465865 - TCGA-JX-A3Q0-01 COSM4824822 c.2310C>T p.I770I Substitution - coding silent 2:27461401-27461401 - CSCC-31-T COSM4548540 c.44G>A p.G15E Substitution - Missense 2:27485499-27485499 - TCGA-CG-5721-01 COSM4093585 c.4628C>T p.T1543M Substitution - Missense 2:27447546-27447546 - EC109 COSM5049280 c.3676G>T p.A1226S Substitution - Missense 2:27454017-27454017 - LUAD-CHTN-3090346 COSM356897 c.4257C>T p.D1419D Substitution - coding silent 2:27449348-27449348 - TCGA-BR-4257-01 COSM184439 c.2509G>A p.A837T Substitution - Missense 2:27461027-27461027 - YUTUCO COSM3580646 c.502C>T p.L168F Substitution - Missense 2:27483357-27483357 - S02322 COSM5691384 c.1716G>C p.R572R Substitution - coding silent 2:27465859-27465859 - TCGA-D1-A17Q-01 COSM1019715 c.502C>A p.L168I Substitution - Missense 2:27483357-27483357 - MD-304 COSM302410 c.4914G>A p.P1638P Substitution - coding silent 2:27445745-27445745 - PD7069a COSM5788787 c.4870G>T p.D1624Y Substitution - Missense 2:27445789-27445789 - PT08_1 COSM5892729 c.1006-4C>T p.? Unknown 2:27478160-27478160 - PGBM09PT COSM1579985 c.3160G>A p.E1054K Substitution - Missense 2:27457707-27457707 - TCGA-AD-6895-01 COSM1407470 c.833C>G p.A278G Substitution - Missense 2:27480102-27480102 - TCGA-D3-A3MR-06 COSM3580640 c.790C>T p.R264W Substitution - Missense 2:27480145-27480145 - 8015299 COSM4781681 c.3739C>T p.R1247C Substitution - Missense 2:27453712-27453712 - TCGA-D3-A2JF-06 COSM3580624 c.3980C>T p.P1327L Substitution - Missense 2:27450068-27450068 - T578 COSM4691858 c.1206C>A p.F402L Substitution - Missense 2:27477574-27477574 - pfg014T COSM1641898 c.1938-7G>T p.? Unknown 2:27463188-27463188 - TCGA-EI-6917-01 COSM3426356 c.1219A>G p.N407D Substitution - Missense 2:27477561-27477561 - NCI-H747 COSM2940167 c.957G>T p.R319S Substitution - Missense 2:27479557-27479557 - PT08_2 COSM5892729 c.1006-4C>T p.? Unknown 2:27478160-27478160 - EGC15 COSM5058856 c.4787T>G p.F1596C Substitution - Missense 2:27445957-27445957 - TCGA-F5-6814-01 COSM3426354 c.4799T>G p.F1600C Substitution - Missense 2:27445945-27445945 - TCGA-AA-A010-01 COSM281864 c.4721A>G p.D1574G Substitution - Missense 2:27446294-27446294 - SNUH_G26_S1 COSM2940080 c.4539+6G>A p.? Unknown 2:27447806-27447806 - EW8 COSM2940083 c.4376C>A p.S1459Y Substitution - Missense 2:27448967-27448967 - Capan-1 COSM328095 c.4540-6C>T p.? Unknown 2:27447640-27447640 - TCGA-KK-A6E2-01 COSM4879343 c.3474C>T p.F1158F Substitution - coding silent 2:27454410-27454410 - TCGA-AD-6889-01 COSM1407461 c.5050C>A p.L1684M Substitution - Missense 2:27445314-27445314 - T37 COSM5344189 c.1832C>A p.A611E Substitution - Missense 2:27465516-27465516 - C0004T COSM4164497 c.1348C>A p.Q450K Substitution - Missense 2:27476704-27476704 - SNU-175 COSM2940137 c.1852C>G p.L618V Substitution - Missense 2:27465496-27465496 - 2497779 COSM5750719 c.1746G>T p.M582I Substitution - Missense 2:27465829-27465829 - ATL045 COSM5708178 c.2611G>C p.D871H Substitution - Missense 2:27459740-27459740 - SNU-175 COSM2940095 c.3598G>A p.A1200T Substitution - Missense 2:27454095-27454095 - TCGA-CG-4305-01 COSM4093605 c.756C>G p.G252G Substitution - coding silent 2:27481075-27481075 - 587376 COSM1210314 c.1814A>C p.D605A Substitution - Missense 2:27465761-27465761 - TCGA-EI-6507-01 COSM1565608 c.2366G>A p.R789Q Substitution - Missense 2:27461345-27461345 - TCGA-EB-A3XB-01 COSM3580629 c.3466G>A p.G1156S Substitution - Missense 2:27454418-27454418 - SH-0622 COSM5017766 c.1141delG p.D381fs*2 Deletion - Frameshift 2:27478021-27478021 - TCGA-D9-A4Z6-01 COSM3580644 c.511C>T p.H171Y Substitution - Missense 2:27483348-27483348 - 473 COSM4438166 c.1627C>T p.R543* Substitution - Nonsense 2:27470993-27470993 - TCGA-Q1-A73O-01 COSM2940162 c.1037G>A p.R346Q Substitution - Missense 2:27478125-27478125 - HN_62646 COSM123700 c.3047T>G p.M1016R Substitution - Missense 2:27457905-27457905 - HCC2998 COSM2940100 c.3475G>A p.E1159K Substitution - Missense 2:27454409-27454409 - TCGA-D3-A5GU-06 COSM3910142 c.4197C>T p.F1399F Substitution - coding silent 2:27449526-27449526 - TCGA-AC-A23H-01 COSM3839292 c.4117G>C p.E1373Q Substitution - Missense 2:27449734-27449734 - CSCC-31-T COSM4484818 c.2857C>T p.R953C Substitution - Missense 2:27458799-27458799 - S01494 COSM311925 c.3105G>T p.L1035L Substitution - coding silent 2:27457847-27457847 - TARGET-30-PARRLH COSM1285479 c.994G>A p.G332R Substitution - Missense 2:27479520-27479520 - CSCC-49-T COSM4549788 c.4825G>A p.E1609K Substitution - Missense 2:27445834-27445834 - TCGA-CZ-4859-01 COSM477277 c.681C>A p.H227Q Substitution - Missense 2:27481150-27481150 - TCGA-ER-A19F-06 COSM3580638 c.1084A>G p.I362V Substitution - Missense 2:27478078-27478078 - SNUH_G15_S1 COSM3682635 c.1730C>A p.T577N Substitution - Missense 2:27465845-27465845 - CHC433T COSM3766573 c.402+3A>G p.? Unknown 2:27483869-27483869 - CSCC-27-T COSM4487036 c.312C>T p.V104V Substitution - coding silent 2:27484251-27484251 - DLD1 COSM2940176 c.693T>G p.T231T Substitution - coding silent 2:27481138-27481138 - CN-AML-NR-08-Dx COSM5425733 c.3915T>A p.S1305S Substitution - coding silent 2:27453420-27453420 - DU-145 COSM184439 c.2509G>A p.A837T Substitution - Missense 2:27461027-27461027 - TCGA-BP-4756-01 COSM3364702 c.4419T>C p.A1473A Substitution - coding silent 2:27448924-27448924 - CSCC-31-T COSM4488732 c.3375C>A p.S1125S Substitution - coding silent 2:27454657-27454657 - TCGA-12-0618-01 COSM2153594 c.2626C>A p.H876N Substitution - Missense 2:27459725-27459725 - PTC-14C COSM4133782 c.1313C>A p.P438H Substitution - Missense 2:27477229-27477229 - CSCC-35-T COSM4509494 c.808C>T p.P270S Substitution - Missense 2:27480127-27480127 - PD5944a COSM1210315 c.631G>A p.V211M Substitution - Missense 2:27481200-27481200 - LC_C6 COSM1185861 c.2023G>C p.G675R Substitution - Missense 2:27462793-27462793 - TCGA-BR-6452-01 COSM4093588 c.3023A>G p.K1008R Substitution - Missense 2:27457929-27457929 - CSCC-44-T COSM4540706 c.2886G>A p.M962I Substitution - Missense 2:27458215-27458215 - T3262 COSM4691857 c.3483T>C p.A1161A Substitution - coding silent 2:27454401-27454401 - SNU-C2B COSM2940146 c.1627C>A p.R543R Substitution - coding silent 2:27470993-27470993 - TCGA-EE-A2M5-06 COSM3580628 c.3627G>A p.G1209G Substitution - coding silent 2:27454066-27454066 - I2L-P19Ta-Tumor-Organoid COSM5354167 c.3308C>T p.A1103V Substitution - Missense 2:27456574-27456574 - TCGA-32-4208-01 COSM3407793 c.1828C>T p.R610W Substitution - Missense 2:27465747-27465747 - CSB1 COSM5025586 c.3580C>A p.H1194N Substitution - Missense 2:27454113-27454113 - TCGA-LP-A5U2-01 COSM4833762 c.3217G>C p.E1073Q Substitution - Missense 2:27457650-27457650 - Pat_53_B COSM5862337 c.4096G>A p.D1366N Substitution - Missense 2:27449755-27449755 - 116 COSM1741391 c.953G>A p.R318Q Substitution - Missense 2:27479561-27479561 - TCGA-BS-A0UV-01 COSM1019701 c.4192G>T p.E1398* Substitution - Nonsense 2:27449531-27449531 - TCGA-12-0618 COSM2153594 c.2626C>A p.H876N Substitution - Missense 2:27459725-27459725 - HCC49T COSM1614735 c.646G>A p.D216N Substitution - Missense 2:27481185-27481185 - CSCC-5-T COSM4493452 c.4156C>T p.P1386S Substitution - Missense 2:27449695-27449695 - Pat_24_A COSM5862339 c.1156C>T p.R386W Substitution - Missense 2:27478006-27478006 - 35M COSM5581348 c.2406C>T p.I802I Substitution - coding silent 2:27461305-27461305 - LS411 COSM2940126 c.2163G>A p.W721* Substitution - Nonsense 2:27461789-27461789 - LOVO COSM2940091 c.3881G>A p.R1294H Substitution - Missense 2:27453454-27453454 - CHLA-258 COSM4583443 c.1457G>C p.S486T Substitution - Missense 2:27472317-27472317 - B86-Tumor COSM1752509 c.2222G>A p.R741H Substitution - Missense 2:27461489-27461489 - B105-0-Tumor COSM1752508 c.4160G>A p.R1387K Substitution - Missense 2:27449691-27449691 - T3091 COSM4691860 c.730A>G p.T244A Substitution - Missense 2:27481101-27481101 - SNU-C2B COSM2940103 c.3101A>G p.H1034R Substitution - Missense 2:27457851-27457851 - TCGA-D1-A103-01 COSM1019709 c.1713G>T p.E571D Substitution - Missense 2:27465862-27465862 - TCGA-HJ-7597-01 COSM2940141 c.1789A>G p.I597V Substitution - Missense 2:27465786-27465786 - T3503 COSM4691864 c.272A>G p.Y91C Substitution - Missense 2:27485042-27485042 - TCGA-A8-A0A6-01 COSM3839296 c.1259T>G p.V420G Substitution - Missense 2:27477283-27477283 - TCGA-BH-A0BQ-01 COSM442747 c.5247G>T p.Q1749H Substitution - Missense 2:27444435-27444435 - TCGA-KK-A59V-01 COSM4093596 c.1791C>T p.I597I Substitution - coding silent 2:27465784-27465784 - TCGA-BR-4370-01 COSM4093603 c.766G>A p.V256M Substitution - Missense 2:27481065-27481065 - CSCC-16-T COSM1690331 c.1580C>T p.S527F Substitution - Missense 2:27471040-27471040 - 587376 COSM1210313 c.4999C>T p.R1667C Substitution - Missense 2:27445365-27445365 - TCGA-EE-A29D-06 COSM3580636 c.1254C>T p.T418T Substitution - coding silent 2:27477288-27477288 - TCGA-BH-A1EV-01 COSM442749 c.327C>T p.F109F Substitution - coding silent 2:27484236-27484236 - AOCS-095-3-1 COSM4141040 c.4469G>T p.S1490I Substitution - Missense 2:27447882-27447882 - MOLT-4 COSM1668800 c.2791G>T p.A931S Substitution - Missense 2:27458865-27458865 - ESCC-D10 COSM5045188 c.406C>T p.R136C Substitution - Missense 2:27483656-27483656 - GHE0645 COSM5714642 c.801C>G p.N267K Substitution - Missense 2:27480134-27480134 - TCGA-AM-5821-01 COSM3695450 c.2723G>A p.R908Q Substitution - Missense 2:27459442-27459442 - TCGA-BR-8361-01 COSM184439 c.2509G>A p.A837T Substitution - Missense 2:27461027-27461027 - T231 COSM4691855 c.4305C>G p.T1435T Substitution - coding silent 2:27449300-27449300 - TCGA-EP-A26S-01 COSM4913464 c.1801A>C p.T601P Substitution - Missense 2:27465774-27465774 - ML_67_T_01 COSM3580644 c.511C>T p.H171Y Substitution - Missense 2:27483348-27483348 - ESCC-F48 COSM5047876 c.3936G>T p.E1312D Substitution - Missense 2:27453399-27453399 - TCGA-AP-A054-01 COSM1019719 c.248T>C p.I83T Substitution - Missense 2:27485066-27485066 - Pat_41_B COSM5862338 c.3482C>T p.A1161V Substitution - Missense 2:27454402-27454402 - HCT116 COSM2940073 c.5106G>A p.R1702R Substitution - coding silent 2:27445068-27445068 - TCGA-FW-A3R5-06 COSM3910144 c.2925C>T p.I975I Substitution - coding silent 2:27458176-27458176 - TCGA-F1-6177-01 COSM4093599 c.1199A>G p.K400R Substitution - Missense 2:27477581-27477581 - TCGA-HC-7081-01 COSM4393568 c.2584G>A p.D862N Substitution - Missense 2:27459767-27459767 - PD7250a COSM5775332 c.3372-3C>A p.? Unknown 2:27454663-27454663 - TCGA-GN-A269-01 COSM3580631 c.1567C>T p.L523F Substitution - Missense 2:27471053-27471053 - TCGA-AN-A046-01 COSM3839294 c.1406C>A p.A469D Substitution - Missense 2:27476646-27476646 - LUAD-D01603 COSM337796 c.32G>T p.S11I Substitution - Missense 2:27489622-27489622 - TCGA-D1-A16F-01 COSM1019697 c.4701C>G p.H1567Q Substitution - Missense 2:27446314-27446314 - SNU-283 COSM1019703 c.3601G>A p.E1201K Substitution - Missense 2:27454092-27454092 - 2521262 COSM3580632 c.1522C>T p.R508C Substitution - Missense 2:27472252-27472252 - ESO-887 COSM1254635 c.4549C>A p.L1517M Substitution - Missense 2:27447625-27447625 - ESO-1872 COSM1254634 c.1513C>T p.R505W Substitution - Missense 2:27472261-27472261 - TCGA-EB-A41A-01 COSM3580632 c.1522C>T p.R508C Substitution - Missense 2:27472252-27472252 - S02292 COSM5687811 c.3048G>T p.M1016I Substitution - Missense 2:27457904-27457904 - 587342 COSM1210312 c.271T>C p.Y91H Substitution - Missense 2:27485043-27485043 - 585258 COSM320928 c.4018C>A p.P1340T Substitution - Missense 2:27450030-27450030 - sysucc-311T COSM5465528 c.2079G>T p.K693N Substitution - Missense 2:27462737-27462737 - PD22360a COSM5784241 c.402+1G>T p.? Unknown 2:27483871-27483871 - PCSI_0090_Pa_X COSM3379414 c.569A>G p.Q190R Substitution - Missense 2:27483290-27483290 - PCSI_0626_Pa_P_526 COSM5761490 c.336+6G>A p.? Unknown 2:27484221-27484221 - CSCC-55-T COSM4548401 c.4465G>A p.V1489M Substitution - Missense 2:27447886-27447886 - TCGA-61-2610-02 COSM1326234 c.4978C>A p.Q1660K Substitution - Missense 2:27445386-27445386 - HT55 COSM2940082 c.4386A>T p.A1462A Substitution - coding silent 2:27448957-27448957 - HCT8 COSM4634826 c.3928C>A p.L1310M Substitution - Missense 2:27453407-27453407 - T578 COSM4691856 c.3796C>T p.R1266W Substitution - Missense 2:27453655-27453655 - TCGA-A8-A09G-01 COSM442748 c.3969C>G p.I1323M Substitution - Missense 2:27450079-27450079 - TCGA-29-1778-01 COSM1326233 c.1015A>G p.K339E Substitution - Missense 2:27478147-27478147 - sysucc-834T COSM5486279 c.3989G>A p.R1330H Substitution - Missense 2:27450059-27450059 - 58 COSM4093589 c.2917C>T p.L973L Substitution - coding silent 2:27458184-27458184 - TCGA-66-2781-01 COSM721412 c.3663G>A p.G1221G Substitution - coding silent 2:27454030-27454030 - YUKAT COSM3580644 c.511C>T p.H171Y Substitution - Missense 2:27483348-27483348 - TCGA-BR-6452-01 COSM4093586 c.3907C>T p.R1303* Substitution - Nonsense 2:27453428-27453428 - TCGA-F5-6814-01 COSM2940141 c.1789A>G p.I597V Substitution - Missense 2:27465786-27465786 - HCC058T COSM5804245 c.3514A>T p.K1172* Substitution - Nonsense 2:27454370-27454370 - TCGA-F5-6814-01 COSM3426355 c.4203G>T p.K1401N Substitution - Missense 2:27449520-27449520 - TCGA-DK-A3WW-01 COSM3798919 c.1080G>A p.V360V Substitution - coding silent 2:27478082-27478082 - PT52 COSM5938881 c.761C>T p.S254F Substitution - Missense 2:27481070-27481070 - S01494 COSM311925 c.3105G>T p.L1035L Substitution - coding silent 2:27457847-27457847 - TCGA-ER-A19F-06 COSM3580626 c.3753C>A p.D1251E Substitution - Missense 2:27453698-27453698 - TCGA-BS-A0UV-01 COSM1019704 c.3400C>T p.R1134W Substitution - Missense 2:27454632-27454632 - CCRF-CEM COSM1668798 c.3896A>G p.Y1299C Substitution - Missense 2:27453439-27453439 - TCGA-D1-A174-01 COSM1019708 c.1720G>A p.G574R Substitution - Missense 2:27465855-27465855 - TCGA-39-5029-01 COSM721413 c.4076A>G p.D1359G Substitution - Missense 2:27449775-27449775 - TCGA-HU-A4H4-01 COSM1565608 c.2366G>A p.R789Q Substitution - Missense 2:27461345-27461345 - SW620 COSM1668799 c.3146A>G p.E1049G Substitution - Missense 2:27457721-27457721 - TCGA-CZ-5470-01 COSM477276 c.1625A>G p.N542S Substitution - Missense 2:27470995-27470995 - TCGA-EK-A3GK-01 COSM4853934 c.3301G>A p.E1101K Substitution - Missense 2:27456581-27456581 - RK050_C COSM1631955 c.5104C>T p.R1702W Substitution - Missense 2:27445070-27445070 - Au4 COSM5603784 c.3865G>A p.A1289T Substitution - Missense 2:27453470-27453470 - TCGA-BD-A3EP-01 COSM4911661 c.3315A>G p.R1105R Substitution - coding silent 2:27456567-27456567 - sysucc-1317T COSM5449719 c.3347C>A p.A1116D Substitution - Missense 2:27456535-27456535 - TCGA-F1-A448-01 COSM4093592 c.2493C>T p.C831C Substitution - coding silent 2:27461043-27461043 - LS411 COSM2940092 c.3848C>T p.A1283V Substitution - Missense 2:27453487-27453487 - ATL024 COSM5708177 c.3248G>A p.G1083E Substitution - Missense 2:27456634-27456634 - TCGA-AA-3715-01 COSM269350 c.756C>T p.G252G Substitution - coding silent 2:27481075-27481075 - PCSI_0090_Pa_P COSM3379414 c.569A>G p.Q190R Substitution - Missense 2:27483290-27483290 - TCGA-DK-A3WW-01 COSM3798918 c.3917G>C p.G1306A Substitution - Missense 2:27453418-27453418 - 8031704 COSM1168936 c.3814G>A p.G1272R Substitution - Missense 2:27453637-27453637 - TCGA-C5-A1BM-01 COSM4826416 c.4675A>G p.R1559G Substitution - Missense 2:27446340-27446340 - TCGA-18-4083-01 COSM721406 c.396A>T p.E132D Substitution - Missense 2:27483878-27483878 - SNU-C1 COSM2940086 c.4228G>T p.V1410L Substitution - Missense 2:27449377-27449377 - AOCS-095-1-4 COSM4141040 c.4469G>T p.S1490I Substitution - Missense 2:27447882-27447882 - PCSI_0090_Pa_P COSM3782184 c.1478T>C p.L493P Substitution - Missense 2:27472296-27472296 - TCGA-FW-A3R5-06 COSM3910147 c.1330C>T p.R444C Substitution - Missense 2:27476722-27476722 - TCGA-27-1835-01 COSM2157253 c.4449G>T p.R1483S Substitution - Missense 2:27447902-27447902 - TCGA-EE-A181-06 COSM3580630 c.3052C>G p.R1018G Substitution - Missense 2:27457900-27457900 - EOPC-036_tumor_01 COSM5950916 c.2634C>T p.I878I Substitution - coding silent 2:27459717-27459717 - TCGA-D1-A17Q-01 COSM1019699 c.4364G>A p.R1455Q Substitution - Missense 2:27448979-27448979 - 8047815 COSM3391679 c.3456G>A p.L1152L Substitution - coding silent 2:27454576-27454576 - TCGA-BR-6452-01 COSM4093591 c.2536C>T p.R846* Substitution - Nonsense 2:27459815-27459815 - YUHEF COSM1690331 c.1580C>T p.S527F Substitution - Missense 2:27471040-27471040 - TCGA-AC-A23H-01 COSM3839302 c.550G>T p.E184* Substitution - Nonsense 2:27483309-27483309 - I2L-P19Tb-Tumor-Organoid COSM5354318 c.3734C>A p.A1245D Substitution - Missense 2:27453717-27453717 - TCGA-DK-A3IL-01 COSM1306677 c.4075G>T p.D1359Y Substitution - Missense 2:27449776-27449776 - TCGA-EE-A3JD-06 COSM4395585 c.4002C>T p.V1334V Substitution - coding silent 2:27450046-27450046 - TCGA-AA-A00N-01 COSM275539 c.4599G>A p.T1533T Substitution - coding silent 2:27447575-27447575 - B105-0 COSM1752508 c.4160G>A p.R1387K Substitution - Missense 2:27449691-27449691 - TCGA-FW-A3R5-06 COSM3910143 c.4008G>T p.L1336L Substitution - coding silent 2:27450040-27450040 - S48_post COSM5574682 c.3371G>T p.C1124F Substitution - Missense 2:27456511-27456511 - HCC154T COSM3746540 c.2321T>C p.L774P Substitution - Missense 2:27461390-27461390 - TCGA-BR-7707-01 COSM4093601 c.837G>A p.K279K Substitution - coding silent 2:27480098-27480098 - ESO-161 COSM1254633 c.3516G>T p.K1172N Substitution - Missense 2:27454368-27454368 - TCGA-KV-A6GD-01 COSM3991253 c.989A>T p.Y330F Substitution - Missense 2:27479525-27479525 - SNUH_G15_S1 COSM3682633 c.1744A>G p.M582V Substitution - Missense 2:27465831-27465831 - I2L-P19Tb-Tumor-Biopsy COSM5354318 c.3734C>A p.A1245D Substitution - Missense 2:27453717-27453717 - TCGA-AX-A05Z-01 COSM1019706 c.2514C>A p.F838L Substitution - Missense 2:27461022-27461022 - 41T COSM3713760 c.1710G>A p.L570L Substitution - coding silent 2:27465865-27465865 - SNUH_G15_S1 COSM3682632 c.1784G>T p.G595V Substitution - Missense 2:27465791-27465791 - 2492730 COSM5728387 c.4148A>G p.E1383G Substitution - Missense 2:27449703-27449703 - TCGA-HU-A4H4-01 COSM4093589 c.2917C>T p.L973L Substitution - coding silent 2:27458184-27458184 - sysucc-826T COSM184444 c.1608C>T p.D536D Substitution - coding silent 2:27471012-27471012 - TCGA-AA-A00N-01 COSM184437 c.2831C>T p.A944V Substitution - Missense 2:27458825-27458825 - TCGA-AP-A059-01 COSM1019700 c.4304C>T p.T1435I Substitution - Missense 2:27449301-27449301 - TCGA-CG-5726-01 COSM4093596 c.1791C>T p.I597I Substitution - coding silent 2:27465784-27465784 - TCGA-A8-A0A6-01 COSM3839304 c.300T>G p.G100G Substitution - coding silent 2:27484263-27484263 - LC_C21 COSM1185862 c.1993G>A p.E665K Substitution - Missense 2:27463126-27463126 - TCGA-GN-A269-01 COSM3580627 c.3736C>A p.L1246M Substitution - Missense 2:27453715-27453715 - 587332 COSM1210311 c.746G>A p.S249N Substitution - Missense 2:27481085-27481085 - SNU-175 COSM272796 c.1295G>A p.R432H Substitution - Missense 2:27477247-27477247 - C086 COSM3580625 c.3850C>T p.R1284* Substitution - Nonsense 2:27453485-27453485 - TCGA-AA-3966-01 COSM272796 c.1295G>A p.R432H Substitution - Missense 2:27477247-27477247 - TCGA-G4-6309-01 COSM1407462 c.3560C>T p.A1187V Substitution - Missense 2:27454133-27454133 - TCGA-B5-A0JY-01 COSM1019703 c.3601G>A p.E1201K Substitution - Missense 2:27454092-27454092 - TCGA-AA-3663-01 COSM1407472 c.40-1G>T p.? Unknown 2:27485504-27485504 - EWS502 COSM2940109 c.2875A>G p.K959E Substitution - Missense 2:27458781-27458781 - Pat_14_B COSM5862341 c.524C>T p.T175I Substitution - Missense 2:27483335-27483335 - T578 COSM4691854 c.4320G>T p.K1440N Substitution - Missense 2:27449023-27449023 - TCGA-AZ-6601-01 COSM1407463 c.3427G>A p.E1143K Substitution - Missense 2:27454605-27454605 - TCGA-CK-5916-01 COSM1407465 c.2834T>C p.I945T Substitution - Missense 2:27458822-27458822 - TCGA-BR-4292-01 COSM4093587 c.3357C>T p.H1119H Substitution - coding silent 2:27456525-27456525 - SNU-C4 COSM4653546 c.23C>A p.T8N Substitution - Missense 2:27489631-27489631 - PT46 COSM5928296 c.2039A>G p.D680G Substitution - Missense 2:27462777-27462777 - SNUH_G15_S1 COSM3682634 c.1738A>G p.M580V Substitution - Missense 2:27465837-27465837 - PD6756a COSM1637913 c.670A>G p.K224E Substitution - Missense 2:27481161-27481161 - CN-AML-08-T COSM5425733 c.3915T>A p.S1305S Substitution - coding silent 2:27453420-27453420 - TCGA-AP-A056-01 COSM1019698 c.4631G>A p.R1544H Substitution - Missense 2:27447543-27447543 - 02-P170 COSM4583445 c.956G>A p.R319K Substitution - Missense 2:27479558-27479558 - TCGA-AP-A0LM-01 COSM1019702 c.4130C>T p.A1377V Substitution - Missense 2:27449721-27449721 - CHC1028T COSM4790929 c.4835T>C p.L1612P Substitution - Missense 2:27445824-27445824 - 587376 COSM1210315 c.631G>A p.V211M Substitution - Missense 2:27481200-27481200 - GB19 COSM1743546 c.4711C>G p.L1571V Substitution - Missense 2:27446304-27446304 - AD74 COSM5966826 c.1518delA p.K506fs*16 Deletion - Frameshift 2:27472256-27472256 - pfg143T COSM2940193 c.145C>T p.R49W Substitution - Missense 2:27485398-27485398 - TCGA-AP-A05P-01 COSM1019707 c.1829G>A p.R610Q Substitution - Missense 2:27465746-27465746 - CSCC-27-T COSM4472202 c.1767C>T p.A589A Substitution - coding silent 2:27465808-27465808 - TCGA-EE-A2GN-06 COSM1565608 c.2366G>A p.R789Q Substitution - Missense 2:27461345-27461345 - RK050_C01 COSM1631955 c.5104C>T p.R1702W Substitution - Missense 2:27445070-27445070 - YUKAT COSM5396802 c.3054C>T p.R1018R Substitution - coding silent 2:27457898-27457898 - ESCC-F6 COSM5048180 c.3124G>A p.E1042K Substitution - Missense 2:27457743-27457743 - NB1952 COSM5703092 c.970A>C p.N324H Substitution - Missense 2:27479544-27479544 - TCGA-33-4566-01 COSM721410 c.1285G>T p.G429C Substitution - Missense 2:27477257-27477257 - TCGA-F4-6570-01 COSM1407464 c.3374C>T p.S1125F Substitution - Missense 2:27454658-27454658 - HCT15 COSM2940111 c.2789T>A p.I930N Substitution - Missense 2:27458867-27458867 - TCGA-AN-A046-01 COSM3839290 c.4834C>T p.L1612L Substitution - coding silent 2:27445825-27445825 - TCGA-EB-A44O-01 COSM3910145 c.1417C>T p.L473L Substitution - coding silent 2:27472357-27472357 - YUOTHO COSM5396801 c.3453C>T p.F1151F Substitution - coding silent 2:27454579-27454579 - TCGA-BR-6566-01 COSM4093594 c.2250A>G p.T750T Substitution - coding silent 2:27461461-27461461 - TCGA-D8-A1XQ-01 COSM3839293 c.1920A>G p.Q640Q Substitution - coding silent 2:27465428-27465428 - HCT15 COSM2940176 c.693T>G p.T231T Substitution - coding silent 2:27481138-27481138 - TCGA-EE-A3AB-06 COSM3580634 c.1275T>C p.N425N Substitution - coding silent 2:27477267-27477267 - TCGA-46-3769-01 COSM721411 c.2398G>C p.E800Q Substitution - Missense 2:27461313-27461313 - TCGA-DA-A1I4-06 COSM3580646 c.502C>T p.L168F Substitution - Missense 2:27483357-27483357 - 587344 COSM1210309 c.2023G>A p.G675S Substitution - Missense 2:27462793-27462793 - pfg132T COSM4751681 c.4736A>C p.E1579A Substitution - Missense 2:27446279-27446279 - PD11740a COSM5794917 c.899G>A p.R300Q Substitution - Missense 2:27480036-27480036 - Co74 COSM33071 c.1280C>G p.T427S Substitution - Missense 2:27477262-27477262 - TCGA-27-1835 COSM2157253 c.4449G>T p.R1483S Substitution - Missense 2:27447902-27447902 - TCGA-HU-8602-01 COSM4093593 c.2370G>T p.E790D Substitution - Missense 2:27461341-27461341 - TCGA-A8-A0A6-01 COSM3839298 c.1079T>G p.V360G Substitution - Missense 2:27478083-27478083 - TCGA-AP-A056-01 COSM1019711 c.1398G>T p.K466N Substitution - Missense 2:27476654-27476654 - AOCS-147-1-1 COSM4141039 c.4660-2A>T p.? Unknown 2:27446357-27446357 - pfg068T COSM1019705 c.3052C>T p.R1018C Substitution - Missense 2:27457900-27457900 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.127398;Hs.127401 2p23.3 607386

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.M1016R c.3047T>G 2 27680772 HNSC AG - Frameshift p.S1561Cfs*18 c.4682_4683delCT 2 27669199 GBM A G Missense p.I83T c.248T>C 2 27707933 UCEC A G Synonymous p.A1473A c.4419T>C 2 27671791 RCCC A G Synonymous p.N425N c.1275T>C 2 27700134 CM ATAA - Frameshift p.L286Tfs*42 c.856_859delTTAT 2 27702943 RCCC A T Missense p.V1509D c.4526T>A 2 27670692 HNSC C A IntronicSNV . c.1938-7G>T 2 27686055 STAD C A Missense p.D1359Y c.4075G>T 2 27672643 BLCA C A Missense p.K1172N c.3516G>T 2 27677235 ESCA C A Missense p.R1483S c.4449G>T 2 27670769 GBM C A Missense p.R236L c.707G>T 2 27703991 LUAD C A SpliceAcceptorSNV . c.1693-1G>T 2 27688750 HNSC C A Synonymous p.L1035L c.3105G>T 2 27680714 SCLC C - Frameshift p.E810Nfs*30 c.2428delG 2 27684150 RCCC C G Missense p.D605H c.1813G>C 2 27688629 BRCA C G Missense p.E800Q c.2398G>C 2 27684180 LUSC C T Missense p.A172T c.514G>A 2 27706212 LUAD C T Missense p.A837T c.2509G>A 2 27683894 STAD C T Missense p.G332R c.994G>A 2 27702387 NB C T Missense p.R789Q c.2366G>A 2 27684212 CM C T Missense p.V256M c.766G>A 2 27703932 STAD C T Nonsense p.W746* c.2238G>A 2 27684340 HNSC C T Synonymous p.G1209G c.3627G>A 2 27676933 CM C T Synonymous p.G1221G c.3663G>A 2 27676897 LUSC C T Synonymous p.K1022K c.3066G>A 2 27680753 HNSC C T Synonymous p.L3L c.9G>A 2 27712512 HNSC C T Synonymous p.V156V c.468G>A 2 27706461 HNSC G A IntronicSNV . c.1692+86C>T 2 27693709 CM G A IntronicSNV . c.337-111C>T 2 27706915 CM G A IntronicSNV . c.337-43C>T 2 27706847 ESCA G A Missense p.A1676V c.5027C>T 2 27668204 ESCA G A Missense p.L168F c.502C>T 2 27706224 CM G A Missense p.L523F c.1567C>T 2 27693920 CM G A Missense p.P1327L c.3980C>T 2 27672935 CM G A Missense p.R264W c.790C>T 2 27703012 CM G A Missense p.R487C c.1459C>T 2 27695182 STAD G A Missense p.R505W c.1513C>T 2 27695128 ESCA G A Missense p.R610W c.1828C>T 2 27688614 GBM G A Missense p.S1545F c.4634C>T 2 27670407 LUSC G A Missense p.T35I c.104C>T 2 27708306 OV G A Nonsense p.R1284* c.3850C>T 2 27676352 CM G A Synonymous p.F109F c.327C>T 2 27707103 BRCA G A Synonymous p.F1158F c.3474C>T 2 27677277 PRAD G A Synonymous p.F502F c.1506C>T 2 27695135 HNSC G A Synonymous p.I597I c.1791C>T 2 27688651 STAD G A Synonymous p.L1354L c.4062C>T 2 27672656 CM G A Synonymous p.V1334V c.4002C>T 2 27672913 CM G C Missense p.H1567Q c.4701C>G 2 27669181 UCEC G C Missense p.P779R c.2336C>G 2 27684242 LUAD G C Missense p.R1018G c.3052C>G 2 27680767 CM G C Synonymous p.G252G c.756C>G 2 27703942 STAD G C Synonymous p.L1137L c.3411C>G 2 27677488 BRCA GG AA Missense p.P1692L c.5075_5076delinsTT 2 27667965 CM G T IntronicSNV . c.336+14C>A 2 27707080 ESCA G T Missense p.D1251E c.3753C>A 2 27676565 CM G T Missense p.H1194N c.3580C>A 2 27676980 BRCA G T Missense p.H227Q c.681C>A 2 27704017 RCCC G T Missense p.H876N c.2626C>A 2 27682592 GBM G T Missense p.L1246M c.3736C>A 2 27676582 CM G T Missense p.L1517M c.4549C>A 2 27670492 ESCA G T Missense p.P1340T c.4018C>A 2 27672897 SCLC G T Missense p.S146Y c.437C>A 2 27706492 UCEC G T Missense p.S671Y c.2012C>A 2 27685974 HNSC T A Missense p.E132D c.396A>T 2 27706745 LUSC T A Missense p.I465F c.1393A>T 2 27699526 CM T C Missense p.D1359G c.4076A>G 2 27672642 LUSC T C Missense p.I362V c.1084A>G 2 27700945 CM T C Missense p.K400R c.1199A>G 2 27700448 STAD T C Missense p.T1623A c.4867A>G 2 27668659 HNSC T G Missense p.E97D c.291A>C 2 27707890 LUAD