Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 122413555 122413555 + Silent SNP C C T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr12:122413555C>T c.2970C>T c.(2968-2970)gtC>gtT p.V990V BLCA 12 122359356 122359356 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr12:122359356G>A c.145G>A c.(145-147)Gag>Aag p.E49K BLCA 12 122359365 122359365 + Nonsense_Mutation SNP G G T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:122359365G>T c.154G>T c.(154-156)Gag>Tag p.E52* BLCA 12 122359491 122359491 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:122359491G>C c.280G>C c.(280-282)Gaa>Caa p.E94Q BLCA 12 122392093 122392093 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr12:122392093C>T c.1388C>T c.(1387-1389)tCa>tTa p.S463L BLCA 12 122395036 122395036 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr12:122395036C>G c.1592C>G c.(1591-1593)tCt>tGt p.S531C BLCA 12 122396180 122396180 + Missense_Mutation SNP A A T TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr12:122396180A>T c.1733A>T c.(1732-1734)aAt>aTt p.N578I BLCA 12 122396386 122396386 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:122396386G>C c.1939G>C c.(1939-1941)Gag>Cag p.E647Q BLCA 12 122396388 122396388 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:122396388G>A c.1941G>A c.(1939-1941)gaG>gaA p.E647E BLCA 12 122396425 122396425 + Nonsense_Mutation SNP G G T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:122396425G>T c.1978G>T c.(1978-1980)Gaa>Taa p.E660* BLCA 12 122396869 122396869 + Missense_Mutation SNP T T G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr12:122396869T>G c.2002T>G c.(2002-2004)Ttt>Gtt p.F668V BLCA 12 122398579 122398579 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr12:122398579G>A c.2222G>A c.(2221-2223)cGc>cAc p.R741H BLCA 12 122413487 122413487 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:122413487C>G c.2902C>G c.(2902-2904)Caa>Gaa p.Q968E BLCA 12 122437650 122437650 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:122437650T>G c.3035T>G c.(3034-3036)tTt>tGt p.F1012C BLCA 12 122437828 122437828 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr12:122437828C>T c.3213C>T c.(3211-3213)ttC>ttT p.F1071F BLCA 12 122437840 122437840 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr12:122437840C>T c.3225C>T c.(3223-3225)ctC>ctT p.L1075L BLCA 12 122441644 122441644 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr12:122441644G>A c.3424G>A c.(3424-3426)Gaa>Aaa p.E1142K BRCA 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-EW-A1J3-01A-11D-A13L-09 TCGA-EW-A1J3-10A-01D-A13O-09 g.chr12:122359385delC c.174delC c.(172-174)ggcfs p.G58fs BRCA 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-EW-A1P5-01A-11D-A142-09 TCGA-EW-A1P5-10A-01D-A142-09 g.chr12:122359385delC c.174delC c.(172-174)ggcfs p.G58fs BRCA 12 122359392 122359392 + Missense_Mutation SNP G G A TCGA-B6-A40C-01A-11D-A23C-09 TCGA-B6-A40C-10A-01D-A23C-09 g.chr12:122359392G>A c.181G>A c.(181-183)Gaa>Aaa p.E61K BRCA 12 122361793 122361793 + Missense_Mutation SNP C C T TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr12:122361793C>T c.644C>T c.(643-645)tCc>tTc p.S215F BRCA 12 122361879 122361880 + Frame_Shift_Ins INS - - C TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr12:122361879_122361880insC c.730_731insC c.(730-732)accfs p.T244fs BRCA 12 122395019 122395019 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr12:122395019C>G c.1575C>G c.(1573-1575)ttC>ttG p.F525L BRCA 12 122395061 122395061 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr12:122395061G>A c.1617G>A c.(1615-1617)ttG>ttA p.L539L BRCA 12 122395093 122395093 + Missense_Mutation SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr12:122395093C>T c.1649C>T c.(1648-1650)tCa>tTa p.S550L BRCA 12 122396244 122396244 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr12:122396244G>A c.1797G>A c.(1795-1797)gaG>gaA p.E599E BRCA 12 122399920 122399920 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr12:122399920C>A c.2344C>A c.(2344-2346)Ctg>Atg p.L782M BRCA 12 122404947 122404947 + Missense_Mutation SNP G G A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr12:122404947G>A c.2579G>A c.(2578-2580)cGc>cAc p.R860H BRCA 12 122413473 122413473 + Missense_Mutation SNP C C T TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr12:122413473C>T c.2888C>T c.(2887-2889)tCt>tTt p.S963F BRCA 12 122413496 122413496 + Missense_Mutation SNP G G C TCGA-AR-A255-01A-11D-A167-09 TCGA-AR-A255-10A-01D-A167-09 g.chr12:122413496G>C c.2911G>C c.(2911-2913)Gac>Cac p.D971H BRCA 12 122413586 122413586 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr12:122413586G>A c.3001G>A c.(3001-3003)Gag>Aag p.E1001K BRCA 12 122437780 122437780 + Silent SNP C C T TCGA-A8-A07P-01A-11W-A019-09 TCGA-A8-A07P-10A-01W-A021-09 g.chr12:122437780C>T c.3165C>T c.(3163-3165)ctC>ctT p.L1055L BRCA 12 122437845 122437845 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 g.chr12:122437845C>T c.3230C>T c.(3229-3231)aCt>aTt p.T1077I BRCA 12 122441575 122441575 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr12:122441575G>A c.3355G>A c.(3355-3357)Gaa>Aaa p.E1119K BRCA 12 122441598 122441598 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr12:122441598C>T c.3378C>T c.(3376-3378)atC>atT p.I1126I CESC 12 122361672 122361672 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:122361672G>A c.523G>A c.(523-525)Gaa>Aaa p.E175K CESC 12 122413586 122413586 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr12:122413586G>A c.3001G>A c.(3001-3003)Gag>Aag p.E1001K CESC 12 122437841 122437841 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:122437841G>A c.3226G>A c.(3226-3228)Gtt>Att p.V1076I COAD 12 122359395 122359395 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122359395G>A c.184G>A c.(184-186)Ggg>Agg p.G62R COAD 12 122359397 122359397 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr12:122359397G>A c.186G>A c.(184-186)ggG>ggA p.G62G COAD 12 122359575 122359575 + Missense_Mutation SNP T T A TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr12:122359575T>A c.364T>A c.(364-366)Tca>Aca p.S122T COAD 12 122361728 122361728 + Missense_Mutation SNP A A T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr12:122361728A>T c.579A>T c.(577-579)gaA>gaT p.E193D COAD 12 122361765 122361766 + Frame_Shift_Del DEL AG AG - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:122361765_122361766delAG c.616_617delAG c.(616-618)agafs p.R206fs COAD 12 122361780 122361780 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122361780G>T c.631G>T c.(631-633)Gaa>Taa p.E211* COAD 12 122369704 122369704 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122369704G>A c.800G>A c.(799-801)cGa>cAa p.R267Q COAD 12 122369704 122369704 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:122369704G>A c.800G>A c.(799-801)cGa>cAa p.R267Q COAD 12 122369731 122369731 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:122369731A>G c.827A>G c.(826-828)tAt>tGt p.Y276C COAD 12 122369782 122369782 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr12:122369782A>G c.878A>G c.(877-879)tAc>tGc p.Y293C COAD 12 122369782 122369782 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr12:122369782A>G c.878A>G c.(877-879)tAc>tGc p.Y293C COAD 12 122369783 122369783 + Silent SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr12:122369783C>T c.879C>T c.(877-879)taC>taT p.Y293Y COAD 12 122372176 122372176 + Silent SNP C C T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122372176C>T c.912C>T c.(910-912)tgC>tgT p.C304C COAD 12 122372183 122372183 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122372183G>A c.919G>A c.(919-921)Gtc>Atc p.V307I COAD 12 122386923 122386923 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:122386923G>T c.1225G>T c.(1225-1227)Gaa>Taa p.E409* COAD 12 122392187 122392187 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122392187T>C c.1482T>C c.(1480-1482)tgT>tgC p.C494C COAD 12 122395110 122395110 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122395110C>A c.1666C>A c.(1666-1668)Cct>Act p.P556T COAD 12 122396368 122396368 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122396368C>A c.1921C>A c.(1921-1923)Ctt>Att p.L641I COAD 12 122396368 122396368 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122396368C>A c.1921C>A c.(1921-1923)Ctt>Att p.L641I COAD 12 122396851 122396851 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122396851G>A c.1984G>A c.(1984-1986)Gcc>Acc p.A662T COAD 12 122398561 122398561 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:122398561C>T c.2204C>T c.(2203-2205)gCa>gTa p.A735V COAD 12 122398590 122398590 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:122398590C>T c.2233C>T c.(2233-2235)Cga>Tga p.R745* COAD 12 122399889 122399889 + Silent SNP G G A TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr12:122399889G>A c.2313G>A c.(2311-2313)gaG>gaA p.E771E COAD 12 122406016 122406016 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:122406016C>T c.2712C>T c.(2710-2712)tgC>tgT p.C904C COAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COAD 12 122437815 122437815 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:122437815G>A c.3200G>A c.(3199-3201)cGa>cAa p.R1067Q COAD 12 122439487 122439487 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:122439487C>T c.3320C>T c.(3319-3321)gCa>gTa p.A1107V COAD 12 122441599 122441599 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr12:122441599A>G c.3379A>G c.(3379-3381)Act>Gct p.T1127A COAD 12 122441614 122441614 + Missense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr12:122441614G>A c.3394G>A c.(3394-3396)Gcg>Acg p.A1132T COAD 12 122441626 122441626 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:122441626C>A c.3406C>A c.(3406-3408)Ctt>Att p.L1136I COADREAD 12 122359392 122359392 + Missense_Mutation SNP G G A TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr12:122359392G>A c.181G>A c.(181-183)Gaa>Aaa p.E61K COADREAD 12 122359395 122359395 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122359395G>A c.184G>A c.(184-186)Ggg>Agg p.G62R COADREAD 12 122359397 122359397 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr12:122359397G>A c.186G>A c.(184-186)ggG>ggA p.G62G COADREAD 12 122359575 122359575 + Missense_Mutation SNP T T A TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr12:122359575T>A c.364T>A c.(364-366)Tca>Aca p.S122T COADREAD 12 122361728 122361728 + Missense_Mutation SNP A A T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr12:122361728A>T c.579A>T c.(577-579)gaA>gaT p.E193D COADREAD 12 122361765 122361766 + Frame_Shift_Del DEL AG AG - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:122361765_122361766delAG c.616_617delAG c.(616-618)agafs p.R206fs COADREAD 12 122361780 122361780 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122361780G>T c.631G>T c.(631-633)Gaa>Taa p.E211* COADREAD 12 122369704 122369704 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122369704G>A c.800G>A c.(799-801)cGa>cAa p.R267Q COADREAD 12 122369704 122369704 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:122369704G>A c.800G>A c.(799-801)cGa>cAa p.R267Q COADREAD 12 122369731 122369731 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:122369731A>G c.827A>G c.(826-828)tAt>tGt p.Y276C COADREAD 12 122369782 122369782 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr12:122369782A>G c.878A>G c.(877-879)tAc>tGc p.Y293C COADREAD 12 122369782 122369782 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr12:122369782A>G c.878A>G c.(877-879)tAc>tGc p.Y293C COADREAD 12 122369783 122369783 + Silent SNP C C T TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr12:122369783C>T c.879C>T c.(877-879)taC>taT p.Y293Y COADREAD 12 122372176 122372176 + Silent SNP C C T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122372176C>T c.912C>T c.(910-912)tgC>tgT p.C304C COADREAD 12 122372183 122372183 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:122372183G>A c.919G>A c.(919-921)Gtc>Atc p.V307I COADREAD 12 122386916 122386916 + Missense_Mutation SNP T T A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr12:122386916T>A c.1218T>A c.(1216-1218)aaT>aaA p.N406K COADREAD 12 122386923 122386923 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:122386923G>T c.1225G>T c.(1225-1227)Gaa>Taa p.E409* COADREAD 12 122392187 122392187 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122392187T>C c.1482T>C c.(1480-1482)tgT>tgC p.C494C COADREAD 12 122395110 122395110 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122395110C>A c.1666C>A c.(1666-1668)Cct>Act p.P556T COADREAD 12 122396368 122396368 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122396368C>A c.1921C>A c.(1921-1923)Ctt>Att p.L641I COADREAD 12 122396368 122396368 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122396368C>A c.1921C>A c.(1921-1923)Ctt>Att p.L641I COADREAD 12 122396851 122396851 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:122396851G>A c.1984G>A c.(1984-1986)Gcc>Acc p.A662T COADREAD 12 122398561 122398561 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:122398561C>T c.2204C>T c.(2203-2205)gCa>gTa p.A735V COADREAD 12 122398570 122398570 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:122398570G>A c.2213G>A c.(2212-2214)cGc>cAc p.R738H COADREAD 12 122398590 122398590 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:122398590C>T c.2233C>T c.(2233-2235)Cga>Tga p.R745* COADREAD 12 122399889 122399889 + Silent SNP G G A TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr12:122399889G>A c.2313G>A c.(2311-2313)gaG>gaA p.E771E COADREAD 12 122406016 122406016 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:122406016C>T c.2712C>T c.(2710-2712)tgC>tgT p.C904C COADREAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COADREAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COADREAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COADREAD 12 122437640 122437640 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:122437640G>A c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K COADREAD 12 122437815 122437815 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:122437815G>A c.3200G>A c.(3199-3201)cGa>cAa p.R1067Q COADREAD 12 122439487 122439487 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:122439487C>T c.3320C>T c.(3319-3321)gCa>gTa p.A1107V COADREAD 12 122441599 122441599 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr12:122441599A>G c.3379A>G c.(3379-3381)Act>Gct p.T1127A COADREAD 12 122441614 122441614 + Missense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr12:122441614G>A c.3394G>A c.(3394-3396)Gcg>Acg p.A1132T COADREAD 12 122441626 122441626 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:122441626C>A c.3406C>A c.(3406-3408)Ctt>Att p.L1136I DLBC 12 122361711 122361711 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:122361711C>T c.562C>T c.(562-564)Cgg>Tgg p.R188W DLBC 12 122404946 122404946 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:122404946C>T c.2578C>T c.(2578-2580)Cgc>Tgc p.R860C DLBC 12 122413481 122413481 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:122413481C>T c.2896C>T c.(2896-2898)Cgc>Tgc p.R966C ESCA 12 122359236 122359236 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr12:122359236C>T c.25C>T c.(25-27)Cga>Tga p.R9* ESCA 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr12:122359385delC c.174delC c.(172-174)ggcfs p.G58fs ESCA 12 122359577 122359577 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr12:122359577A>G c.366A>G c.(364-366)tcA>tcG p.S122S ESCA 12 122361696 122361696 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr12:122361696G>T c.547G>T c.(547-549)Gag>Tag p.E183* ESCA 12 122396966 122396966 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr12:122396966G>T c.2099G>T c.(2098-2100)aGc>aTc p.S700I ESCA 12 122398616 122398616 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr12:122398616G>T c.2259G>T c.(2257-2259)ctG>ctT p.L753L ESCA 12 122405917 122405917 + Silent SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:122405917A>T c.2613A>T c.(2611-2613)ggA>ggT p.G871G ESCA 12 122437781 122437781 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr12:122437781G>C c.3166G>C c.(3166-3168)Ggt>Cgt p.G1056R GBM 12 122437781 122437781 + Missense_Mutation SNP G G A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr12:122437781G>A c.3166G>A c.(3166-3168)Ggt>Agt p.G1056S GBMLGG 12 122396945 122396945 + Missense_Mutation SNP G G T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 g.chr12:122396945G>T c.2078G>T c.(2077-2079)aGa>aTa p.R693I GBMLGG 12 122399950 122399950 + Missense_Mutation SNP C C G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr12:122399950C>G c.2374C>G c.(2374-2376)Cag>Gag p.Q792E GBMLGG 12 122399967 122399967 + Silent SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr12:122399967C>T c.2391C>T c.(2389-2391)acC>acT p.T797T GBMLGG 12 122437781 122437781 + Missense_Mutation SNP G G A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr12:122437781G>A c.3166G>A c.(3166-3168)Ggt>Agt p.G1056S HNSC 12 122359293 122359293 + Missense_Mutation SNP C C G TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr12:122359293C>G c.82C>G c.(82-84)Cca>Gca p.P28A HNSC 12 122359424 122359424 + Missense_Mutation SNP G G C TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr12:122359424G>C c.213G>C c.(211-213)aaG>aaC p.K71N HNSC 12 122361573 122361573 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr12:122361573G>A c.424G>A c.(424-426)Gat>Aat p.D142N HNSC 12 122361712 122361712 + Missense_Mutation SNP G G A TCGA-CV-A6JY-01A-11D-A31L-08 TCGA-CV-A6JY-10A-01D-A31J-08 g.chr12:122361712G>A c.563G>A c.(562-564)cGg>cAg p.R188Q HNSC 12 122369654 122369654 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chr12:122369654C>T c.750C>T c.(748-750)acC>acT p.T250T HNSC 12 122386953 122386953 + Missense_Mutation SNP A A G TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr12:122386953A>G c.1255A>G c.(1255-1257)Ata>Gta p.I419V HNSC 12 122396265 122396265 + Silent SNP G G A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr12:122396265G>A c.1818G>A c.(1816-1818)aaG>aaA p.K606K HNSC 12 122396334 122396334 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr12:122396334G>T c.1887G>T c.(1885-1887)atG>atT p.M629I HNSC 12 122413157 122413157 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr12:122413157G>A c.2779G>A c.(2779-2781)Gag>Aag p.E927K HNSC 12 122413558 122413558 + Missense_Mutation SNP G G A TCGA-CV-5431-01A-01D-1512-08 TCGA-CV-5431-11A-01D-1512-08 g.chr12:122413558G>A c.2973G>A c.(2971-2973)atG>atA p.M991I KICH 12 122361543 122361543 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr12:122361543A>G c.394A>G c.(394-396)Agc>Ggc p.S132G KICH 12 122406016 122406016 + Silent SNP C C T TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr12:122406016C>T c.2712C>T c.(2710-2712)tgC>tgT p.C904C KIPAN 12 122361543 122361543 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr12:122361543A>G c.394A>G c.(394-396)Agc>Ggc p.S132G KIPAN 12 122389412 122389412 + Silent SNP C C T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr12:122389412C>T c.1296C>T c.(1294-1296)caC>caT p.H432H KIPAN 12 122406016 122406016 + Silent SNP C C T TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr12:122406016C>T c.2712C>T c.(2710-2712)tgC>tgT p.C904C KIPAN 12 122406042 122406042 + Missense_Mutation SNP A A G TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr12:122406042A>G c.2738A>G c.(2737-2739)gAt>gGt p.D913G KIPAN 12 122413567 122413567 + Silent SNP T T C TCGA-B3-4103-01A-01D-1458-08 TCGA-B3-4103-10A-01D-1458-08 g.chr12:122413567T>C c.2982T>C c.(2980-2982)atT>atC p.I994I KIRP 12 122389412 122389412 + Silent SNP C C T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr12:122389412C>T c.1296C>T c.(1294-1296)caC>caT p.H432H KIRP 12 122406042 122406042 + Missense_Mutation SNP A A G TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr12:122406042A>G c.2738A>G c.(2737-2739)gAt>gGt p.D913G KIRP 12 122413567 122413567 + Silent SNP T T C TCGA-B3-4103-01A-01D-1458-08 TCGA-B3-4103-10A-01D-1458-08 g.chr12:122413567T>C c.2982T>C c.(2980-2982)atT>atC p.I994I LGG 12 122396945 122396945 + Missense_Mutation SNP G G T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 g.chr12:122396945G>T c.2078G>T c.(2077-2079)aGa>aTa p.R693I LGG 12 122399950 122399950 + Missense_Mutation SNP C C G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr12:122399950C>G c.2374C>G c.(2374-2376)Cag>Gag p.Q792E LGG 12 122399967 122399967 + Silent SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr12:122399967C>T c.2391C>T c.(2389-2391)acC>acT p.T797T LIHC 12 122396358 122396358 + Missense_Mutation SNP C C A TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr12:122396358C>A c.1911C>A c.(1909-1911)aaC>aaA p.N637K LIHC 12 122413230 122413230 + Missense_Mutation SNP A A G TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr12:122413230A>G c.2852A>G c.(2851-2853)aAa>aGa p.K951R LUAD 12 122361648 122361648 + Missense_Mutation SNP G G A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr12:122361648G>A c.499G>A c.(499-501)Gag>Aag p.E167K LUAD 12 122361775 122361775 + Missense_Mutation SNP G G A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr12:122361775G>A c.626G>A c.(625-627)gGa>gAa p.G209E LUAD 12 122361785 122361785 + Silent SNP G G A TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr12:122361785G>A c.636G>A c.(634-636)agG>agA p.R212R LUAD 12 122369737 122369737 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr12:122369737G>T c.833G>T c.(832-834)tGt>tTt p.C278F LUAD 12 122380828 122380828 + Missense_Mutation SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr12:122380828G>T c.1138G>T c.(1138-1140)Gca>Tca p.A380S LUAD 12 122380855 122380855 + Nonsense_Mutation SNP G G T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr12:122380855G>T c.1165G>T c.(1165-1167)Gaa>Taa p.E389* LUAD 12 122392025 122392025 + Splice_Site SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr12:122392025G>C c.e10-1 LUAD 12 122395035 122395035 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr12:122395035T>C c.1591T>C c.(1591-1593)Tct>Cct p.S531P LUAD 12 122396299 122396299 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr12:122396299C>T c.1852C>T c.(1852-1854)Caa>Taa p.Q618* LUAD 12 122396299 122396299 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr12:122396299C>T c.1852C>T c.(1852-1854)Caa>Taa p.Q618* LUAD 12 122396346 122396346 + Missense_Mutation SNP G G T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr12:122396346G>T c.1899G>T c.(1897-1899)tgG>tgT p.W633C LUAD 12 122396894 122396894 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr12:122396894T>C c.2027T>C c.(2026-2028)cTt>cCt p.L676P LUAD 12 122396983 122396983 + Nonsense_Mutation SNP C C T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr12:122396983C>T c.2116C>T c.(2116-2118)Cag>Tag p.Q706* LUAD 12 122399998 122399998 + Nonsense_Mutation SNP G G T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr12:122399998G>T c.2422G>T c.(2422-2424)Gaa>Taa p.E808* LUAD 12 122413223 122413223 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr12:122413223G>A c.2845G>A c.(2845-2847)Gaa>Aaa p.E949K LUAD 12 122413568 122413568 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr12:122413568G>A c.2983G>A c.(2983-2985)Ggc>Agc p.G995S LUSC 12 122359576 122359576 + Missense_Mutation SNP C C T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr12:122359576C>T c.365C>T c.(364-366)tCa>tTa p.S122L LUSC 12 122395069 122395069 + Missense_Mutation SNP G G C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr12:122395069G>C c.1625G>C c.(1624-1626)gGc>gCc p.G542A LUSC 12 122413496 122413496 + Missense_Mutation SNP G G A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr12:122413496G>A c.2911G>A c.(2911-2913)Gac>Aac p.D971N LUSC 12 122413512 122413512 + Missense_Mutation SNP G G C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr12:122413512G>C c.2927G>C c.(2926-2928)aGa>aCa p.R976T LUSC 12 122437833 122437833 + Missense_Mutation SNP G G C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr12:122437833G>C c.3218G>C c.(3217-3219)aGa>aCa p.R1073T OV 12 122359529 122359529 + Silent SNP C C A TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr12:122359529C>A c.318C>A c.(316-318)tcC>tcA p.S106S OV 12 122369783 122369783 + Nonsense_Mutation SNP C C A TCGA-24-1474-01A-01W-0551-08 TCGA-24-1474-10A-01W-0551-08 g.chr12:122369783C>A c.879C>A c.(877-879)taC>taA p.Y293* PAAD 12 122380800 122380800 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:122380800G>T c.e7-1 PRAD 12 122359385 122359385 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:122359385C>T c.174C>T c.(172-174)ggC>ggT p.G58G PRAD 12 122392096 122392096 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:122392096C>T c.1391C>T c.(1390-1392)gCc>gTc p.A464V PRAD 12 122394993 122394993 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:122394993G>T c.1549G>T c.(1549-1551)Ggt>Tgt p.G517C PRAD 12 122396884 122396884 + Missense_Mutation SNP G G C TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 g.chr12:122396884G>C c.2017G>C c.(2017-2019)Gtt>Ctt p.V673L PRAD 12 122441613 122441613 + Silent SNP C C T TCGA-HC-A6AO-01A-11D-A30E-08 TCGA-HC-A6AO-10A-01D-A30H-08 g.chr12:122441613C>T c.3393C>T c.(3391-3393)ttC>ttT p.F1131F READ 12 122359392 122359392 + Missense_Mutation SNP G G A TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr12:122359392G>A c.181G>A c.(181-183)Gaa>Aaa p.E61K READ 12 122386916 122386916 + Missense_Mutation SNP T T A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr12:122386916T>A c.1218T>A c.(1216-1218)aaT>aaA p.N406K READ 12 122398570 122398570 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:122398570G>A c.2213G>A c.(2212-2214)cGc>cAc p.R738H SARC 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 g.chr12:122359385delC c.174delC c.(172-174)ggcfs p.G58fs SARC 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 g.chr12:122359385delC c.174delC c.(172-174)ggcfs p.G58fs SARC 12 122398649 122398649 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:122398649G>A c.2292G>A c.(2290-2292)ggG>ggA p.G764G SKCM 12 122361858 122361858 + Silent SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr12:122361858C>T c.709C>T c.(709-711)Ctg>Ttg p.L237L SKCM 12 122361869 122361869 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr12:122361869G>A c.720G>A c.(718-720)aaG>aaA p.K240K SKCM 12 122395121 122395121 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:122395121A>C c.1677A>C c.(1675-1677)gaA>gaC p.E559D SKCM 12 122396265 122396265 + Silent SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr12:122396265G>A c.1818G>A c.(1816-1818)aaG>aaA p.K606K SKCM 12 122396368 122396368 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:122396368C>T c.1921C>T c.(1921-1923)Ctt>Ttt p.L641F SKCM 12 122396930 122396930 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:122396930C>T c.2063C>T c.(2062-2064)cCt>cTt p.P688L SKCM 12 122398590 122398590 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr12:122398590C>T c.2233C>T c.(2233-2235)Cga>Tga p.R745* SKCM 12 122399963 122399963 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr12:122399963C>T c.2387C>T c.(2386-2388)cCc>cTc p.P796L SKCM 12 122405975 122405975 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr12:122405975C>T c.2671C>T c.(2671-2673)Ccg>Tcg p.P891S SKCM 12 122437759 122437759 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:122437759C>T c.3144C>T c.(3142-3144)atC>atT p.I1048I SKCM 12 122437829 122437829 + Silent SNP C C T TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr12:122437829C>T c.3214C>T c.(3214-3216)Ctg>Ttg p.L1072L SKCM 12 122437850 122437850 + Splice_Site SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr12:122437850G>A c.3235G>A c.(3235-3237)Ggt>Agt p.G1079S SKCM 12 122439469 122439469 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:122439469G>A c.3302G>A c.(3301-3303)gGa>gAa p.G1101E SKCM 12 122439497 122439497 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:122439497C>T c.3330C>T c.(3328-3330)tcC>tcT p.S1110S

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 12 122353796 122353796 single base substitution A G upstream_gene_variant BLCA-CN 12 122392217 122392217 single base substitution C A exon_variant BLCA-CN 12 122392217 122392217 single base substitution C A intron_variant BLCA-CN 12 122392217 122392217 single base substitution C A synonymous_variant I504I 1512C>A BLCA-US 12 122392093 122392093 single base substitution C T downstream_gene_variant BLCA-US 12 122392093 122392093 single base substitution C T exon_variant BLCA-US 12 122392093 122392093 single base substitution C T intron_variant BLCA-US 12 122392093 122392093 single base substitution C T missense_variant S463L 1388C>T BLCA-US 12 122398579 122398579 single base substitution G A downstream_gene_variant BLCA-US 12 122398579 122398579 single base substitution G A missense_variant R741H 2222G>A BLCA-US 12 122398579 122398579 single base substitution G A upstream_gene_variant BLCA-US 12 122441644 122441644 single base substitution G A exon_variant BLCA-US 12 122441644 122441644 single base substitution G A missense_variant E1142K 3424G>A BRCA-EU 12 122350967 122350967 single base substitution C T upstream_gene_variant BRCA-EU 12 122352452 122352452 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 122352675 122352675 single base substitution G C upstream_gene_variant BRCA-EU 12 122352749 122352749 single base substitution G T upstream_gene_variant BRCA-EU 12 122353893 122353893 single base substitution G C upstream_gene_variant BRCA-EU 12 122358881 122358881 single base substitution A G intron_variant BRCA-EU 12 122358881 122358881 single base substitution A G upstream_gene_variant BRCA-EU 12 122359554 122359554 single base substitution A G exon_variant BRCA-EU 12 122359554 122359554 single base substitution A G missense_variant T115A 343A>G BRCA-EU 12 122360406 122360406 single base substitution G A intron_variant BRCA-EU 12 122361282 122361282 single base substitution C G intron_variant BRCA-EU 12 122362021 122362022 deletion of <=200bp TG - intron_variant BRCA-EU 12 122362557 122362557 single base substitution C G intron_variant BRCA-EU 12 122363541 122363541 single base substitution G A intron_variant BRCA-EU 12 122364191 122364191 single base substitution C A intron_variant BRCA-EU 12 122364712 122364712 single base substitution G A intron_variant BRCA-EU 12 122364735 122364735 single base substitution G A intron_variant BRCA-EU 12 122365656 122365656 single base substitution G A intron_variant BRCA-EU 12 122366198 122366198 single base substitution C T intron_variant BRCA-EU 12 122366210 122366246 deletion of <=200bp ATGATTCCATAATTCTACCACTCACACCCACACAATA - intron_variant BRCA-EU 12 122366246 122366246 single base substitution A T intron_variant BRCA-EU 12 122367440 122367440 single base substitution G A intron_variant BRCA-EU 12 122367440 122367440 single base substitution G A upstream_gene_variant BRCA-EU 12 122368416 122368416 single base substitution C A intron_variant BRCA-EU 12 122368416 122368416 single base substitution C A upstream_gene_variant BRCA-EU 12 122368494 122368494 single base substitution C T intron_variant BRCA-EU 12 122368494 122368494 single base substitution C T upstream_gene_variant BRCA-EU 12 122368948 122368948 single base substitution C T intron_variant BRCA-EU 12 122368948 122368948 single base substitution C T upstream_gene_variant BRCA-EU 12 122370123 122370123 single base substitution C T exon_variant BRCA-EU 12 122370123 122370123 single base substitution C T intron_variant BRCA-EU 12 122370123 122370123 single base substitution C T upstream_gene_variant BRCA-EU 12 122370139 122370139 single base substitution T A exon_variant BRCA-EU 12 122370139 122370139 single base substitution T A intron_variant BRCA-EU 12 122370139 122370139 single base substitution T A upstream_gene_variant BRCA-EU 12 122370574 122370574 single base substitution C T exon_variant BRCA-EU 12 122370574 122370574 single base substitution C T intron_variant BRCA-EU 12 122370574 122370574 single base substitution C T upstream_gene_variant BRCA-EU 12 122371332 122371332 single base substitution G A exon_variant BRCA-EU 12 122371332 122371332 single base substitution G A intron_variant BRCA-EU 12 122371332 122371332 single base substitution G A upstream_gene_variant BRCA-EU 12 122373004 122373004 single base substitution A G downstream_gene_variant BRCA-EU 12 122373004 122373004 single base substitution A G intron_variant BRCA-EU 12 122373449 122373449 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 122373449 122373449 deletion of <=200bp T - intron_variant BRCA-EU 12 122375341 122375341 single base substitution C G downstream_gene_variant BRCA-EU 12 122375341 122375341 single base substitution C G intron_variant BRCA-EU 12 122376435 122376435 single base substitution C A downstream_gene_variant BRCA-EU 12 122376435 122376435 single base substitution C A intron_variant BRCA-EU 12 122378276 122378276 single base substitution A G intron_variant BRCA-EU 12 122378582 122378582 single base substitution C T intron_variant BRCA-EU 12 122378946 122378946 deletion of <=200bp T - intron_variant BRCA-EU 12 122381218 122381218 single base substitution C G intron_variant BRCA-EU 12 122381218 122381218 single base substitution C G upstream_gene_variant BRCA-EU 12 122382099 122382099 single base substitution G C intron_variant BRCA-EU 12 122382099 122382099 single base substitution G C upstream_gene_variant BRCA-EU 12 122382701 122382701 single base substitution T G intron_variant BRCA-EU 12 122382701 122382701 single base substitution T G upstream_gene_variant BRCA-EU 12 122383255 122383258 deletion of <=200bp TTTC - intron_variant BRCA-EU 12 122383255 122383258 deletion of <=200bp TTTC - upstream_gene_variant BRCA-EU 12 122384381 122384381 single base substitution C G intron_variant BRCA-EU 12 122384381 122384381 single base substitution C G upstream_gene_variant BRCA-EU 12 122386324 122386324 single base substitution C A exon_variant BRCA-EU 12 122386324 122386324 single base substitution C A intron_variant BRCA-EU 12 122386324 122386324 single base substitution C A upstream_gene_variant BRCA-EU 12 122386747 122386747 insertion of <=200bp - T exon_variant BRCA-EU 12 122386747 122386747 insertion of <=200bp - T intron_variant BRCA-EU 12 122386747 122386747 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 122388721 122388721 single base substitution C T downstream_gene_variant BRCA-EU 12 122388721 122388721 single base substitution C T exon_variant BRCA-EU 12 122388721 122388721 single base substitution C T intron_variant BRCA-EU 12 122388721 122388721 single base substitution C T upstream_gene_variant BRCA-EU 12 122389106 122389106 single base substitution G A downstream_gene_variant BRCA-EU 12 122389106 122389106 single base substitution G A exon_variant BRCA-EU 12 122389106 122389106 single base substitution G A intron_variant BRCA-EU 12 122389106 122389106 single base substitution G A upstream_gene_variant BRCA-EU 12 122389466 122389466 single base substitution C T downstream_gene_variant BRCA-EU 12 122389466 122389466 single base substitution C T intron_variant BRCA-EU 12 122389466 122389466 single base substitution C T upstream_gene_variant BRCA-EU 12 122389642 122389642 single base substitution T G downstream_gene_variant BRCA-EU 12 122389642 122389642 single base substitution T G intron_variant BRCA-EU 12 122389642 122389642 single base substitution T G upstream_gene_variant BRCA-EU 12 122390328 122390328 single base substitution A T downstream_gene_variant BRCA-EU 12 122390328 122390328 single base substitution A T intron_variant BRCA-EU 12 122390328 122390328 single base substitution A T upstream_gene_variant BRCA-EU 12 122390710 122390710 single base substitution G A downstream_gene_variant BRCA-EU 12 122390710 122390710 single base substitution G A exon_variant BRCA-EU 12 122390710 122390710 single base substitution G A intron_variant BRCA-EU 12 122391494 122391494 single base substitution T G downstream_gene_variant BRCA-EU 12 122391494 122391494 single base substitution T G exon_variant BRCA-EU 12 122391494 122391494 single base substitution T G intron_variant BRCA-EU 12 122391886 122391886 single base substitution G T downstream_gene_variant BRCA-EU 12 122391886 122391886 single base substitution G T exon_variant BRCA-EU 12 122391886 122391886 single base substitution G T intron_variant BRCA-EU 12 122394818 122394818 single base substitution C G intron_variant BRCA-EU 12 122396386 122396386 single base substitution G C exon_variant BRCA-EU 12 122396386 122396386 single base substitution G C missense_variant E647Q 1939G>C BRCA-EU 12 122396386 122396386 single base substitution G C upstream_gene_variant BRCA-EU 12 122398040 122398040 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 122398040 122398040 deletion of <=200bp A - intron_variant BRCA-EU 12 122398040 122398040 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 122399517 122399517 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 122399517 122399517 deletion of <=200bp T - intron_variant BRCA-EU 12 122399517 122399517 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 122399653 122399653 single base substitution G A downstream_gene_variant BRCA-EU 12 122399653 122399653 single base substitution G A intron_variant BRCA-EU 12 122399653 122399653 single base substitution G A upstream_gene_variant BRCA-EU 12 122399991 122399991 single base substitution C T downstream_gene_variant BRCA-EU 12 122399991 122399991 single base substitution C T exon_variant BRCA-EU 12 122399991 122399991 single base substitution C T synonymous_variant L805L 2415C>T BRCA-EU 12 122400349 122400349 single base substitution A C downstream_gene_variant BRCA-EU 12 122400349 122400349 single base substitution A C intron_variant BRCA-EU 12 122402239 122402239 single base substitution C T downstream_gene_variant BRCA-EU 12 122402239 122402239 single base substitution C T intron_variant BRCA-EU 12 122402809 122402809 deletion of <=200bp A - intron_variant BRCA-EU 12 122404002 122404002 single base substitution G C intron_variant BRCA-EU 12 122404431 122404431 single base substitution G A intron_variant BRCA-EU 12 122404898 122404898 single base substitution G A exon_variant BRCA-EU 12 122404898 122404898 single base substitution G A missense_variant E844K 2530G>A BRCA-EU 12 122405058 122405058 single base substitution G C intron_variant BRCA-EU 12 122405195 122405195 single base substitution G A intron_variant BRCA-EU 12 122405876 122405876 single base substitution C A intron_variant BRCA-EU 12 122406089 122406089 single base substitution C T intron_variant BRCA-EU 12 122408300 122408300 single base substitution C G downstream_gene_variant BRCA-EU 12 122408300 122408300 single base substitution C G intron_variant BRCA-EU 12 122408794 122408794 single base substitution C T downstream_gene_variant BRCA-EU 12 122408794 122408794 single base substitution C T intron_variant BRCA-EU 12 122409020 122409024 deletion of <=200bp GCCTT - downstream_gene_variant BRCA-EU 12 122409020 122409024 deletion of <=200bp GCCTT - intron_variant BRCA-EU 12 122410072 122410072 single base substitution G C downstream_gene_variant BRCA-EU 12 122410072 122410072 single base substitution G C intron_variant BRCA-EU 12 122410458 122410458 single base substitution G A downstream_gene_variant BRCA-EU 12 122410458 122410458 single base substitution G A intron_variant BRCA-EU 12 122412862 122412862 single base substitution T A downstream_gene_variant BRCA-EU 12 122412862 122412862 single base substitution T A intron_variant BRCA-EU 12 122412963 122412963 single base substitution C T downstream_gene_variant BRCA-EU 12 122412963 122412963 single base substitution C T intron_variant BRCA-EU 12 122413070 122413070 single base substitution G A downstream_gene_variant BRCA-EU 12 122413070 122413070 single base substitution G A intron_variant BRCA-EU 12 122413128 122413128 single base substitution G C downstream_gene_variant BRCA-EU 12 122413128 122413128 single base substitution G C intron_variant BRCA-EU 12 122414077 122414077 single base substitution G A downstream_gene_variant BRCA-EU 12 122414077 122414077 single base substitution G A intron_variant BRCA-EU 12 122414284 122414284 single base substitution G A downstream_gene_variant BRCA-EU 12 122414284 122414284 single base substitution G A intron_variant BRCA-EU 12 122415222 122415222 single base substitution T C intron_variant BRCA-EU 12 122415552 122415552 single base substitution C T intron_variant BRCA-EU 12 122415816 122415816 single base substitution G T intron_variant BRCA-EU 12 122416126 122416126 single base substitution G A intron_variant BRCA-EU 12 122416138 122416138 single base substitution A G intron_variant BRCA-EU 12 122417231 122417231 single base substitution A T intron_variant BRCA-EU 12 122417599 122417599 single base substitution T A intron_variant BRCA-EU 12 122418488 122418488 single base substitution G A intron_variant BRCA-EU 12 122418674 122418674 deletion of <=200bp C - intron_variant BRCA-EU 12 122421646 122421646 single base substitution T A intron_variant BRCA-EU 12 122422267 122422267 single base substitution A T intron_variant BRCA-EU 12 122422829 122422829 single base substitution G T intron_variant BRCA-EU 12 122425363 122425363 single base substitution G T intron_variant BRCA-EU 12 122425445 122425445 single base substitution G A intron_variant BRCA-EU 12 122425506 122425506 single base substitution A G intron_variant BRCA-EU 12 122426467 122426467 single base substitution C A intron_variant BRCA-EU 12 122427543 122427543 single base substitution A T intron_variant BRCA-EU 12 122428468 122428468 single base substitution T C intron_variant BRCA-EU 12 122430726 122430726 single base substitution C G intron_variant BRCA-EU 12 122430726 122430726 single base substitution C G upstream_gene_variant BRCA-EU 12 122434562 122434562 deletion of <=200bp A - intron_variant BRCA-EU 12 122434562 122434562 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 122436182 122436182 single base substitution T A exon_variant BRCA-EU 12 122436182 122436182 single base substitution T A intron_variant BRCA-EU 12 122436182 122436182 single base substitution T A upstream_gene_variant BRCA-EU 12 122437291 122437291 single base substitution C T exon_variant BRCA-EU 12 122437291 122437291 single base substitution C T intron_variant BRCA-EU 12 122437291 122437291 single base substitution C T upstream_gene_variant BRCA-EU 12 122437604 122437604 single base substitution T C exon_variant BRCA-EU 12 122437604 122437604 single base substitution T C intron_variant BRCA-EU 12 122437604 122437604 single base substitution T C upstream_gene_variant BRCA-EU 12 122438593 122438593 single base substitution G C intron_variant BRCA-EU 12 122438593 122438593 single base substitution G C upstream_gene_variant BRCA-EU 12 122439479 122439479 single base substitution C T exon_variant BRCA-EU 12 122439479 122439479 single base substitution C T synonymous_variant S1104S 3312C>T BRCA-EU 12 122439479 122439479 single base substitution C T upstream_gene_variant BRCA-EU 12 122439675 122439675 single base substitution G A exon_variant BRCA-EU 12 122439675 122439675 single base substitution G A intron_variant BRCA-EU 12 122440927 122440927 single base substitution G A intron_variant BRCA-EU 12 122441254 122441254 single base substitution G A intron_variant BRCA-EU 12 122441278 122441278 single base substitution G C intron_variant BRCA-EU 12 122441299 122441299 single base substitution G A intron_variant BRCA-EU 12 122442160 122442160 single base substitution C T downstream_gene_variant BRCA-EU 12 122442330 122442330 single base substitution C T downstream_gene_variant BRCA-EU 12 122443434 122443434 single base substitution C A downstream_gene_variant BRCA-EU 12 122445576 122445576 single base substitution C G downstream_gene_variant BRCA-EU 12 122445701 122445701 single base substitution A C downstream_gene_variant BRCA-EU 12 122446066 122446066 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 122446159 122446159 single base substitution G A downstream_gene_variant BRCA-EU 12 122446632 122446632 insertion of <=200bp - CT downstream_gene_variant BRCA-EU 12 122446672 122446672 single base substitution A T downstream_gene_variant BRCA-FR 12 122361282 122361282 single base substitution C G intron_variant BRCA-FR 12 122368948 122368948 single base substitution C T intron_variant BRCA-FR 12 122368948 122368948 single base substitution C T upstream_gene_variant BRCA-FR 12 122370574 122370574 single base substitution C T exon_variant BRCA-FR 12 122370574 122370574 single base substitution C T intron_variant BRCA-FR 12 122370574 122370574 single base substitution C T upstream_gene_variant BRCA-FR 12 122373665 122373665 single base substitution G A downstream_gene_variant BRCA-FR 12 122373665 122373665 single base substitution G A intron_variant BRCA-FR 12 122375341 122375341 single base substitution C G downstream_gene_variant BRCA-FR 12 122375341 122375341 single base substitution C G intron_variant BRCA-FR 12 122381218 122381218 single base substitution C G intron_variant BRCA-FR 12 122381218 122381218 single base substitution C G upstream_gene_variant BRCA-FR 12 122383944 122383944 single base substitution G A intron_variant BRCA-FR 12 122383944 122383944 single base substitution G A upstream_gene_variant BRCA-FR 12 122389642 122389642 single base substitution T G downstream_gene_variant BRCA-FR 12 122389642 122389642 single base substitution T G intron_variant BRCA-FR 12 122389642 122389642 single base substitution T G upstream_gene_variant BRCA-FR 12 122390710 122390710 single base substitution G A downstream_gene_variant BRCA-FR 12 122390710 122390710 single base substitution G A exon_variant BRCA-FR 12 122390710 122390710 single base substitution G A intron_variant BRCA-FR 12 122405326 122405326 single base substitution G A intron_variant BRCA-FR 12 122416069 122416069 single base substitution C T intron_variant BRCA-FR 12 122416986 122416986 single base substitution G A intron_variant BRCA-FR 12 122417709 122417709 single base substitution T G intron_variant BRCA-FR 12 122445576 122445576 single base substitution C G downstream_gene_variant BRCA-UK 12 122361717 122361717 single base substitution C G exon_variant BRCA-UK 12 122361717 122361717 single base substitution C G missense_variant P190A 568C>G BRCA-UK 12 122413765 122413765 single base substitution G C downstream_gene_variant BRCA-UK 12 122413765 122413765 single base substitution G C intron_variant BRCA-UK 12 122431859 122431859 single base substitution A C intron_variant BRCA-UK 12 122431859 122431859 single base substitution A C upstream_gene_variant BRCA-UK 12 122431977 122431977 single base substitution G T intron_variant BRCA-UK 12 122431977 122431977 single base substitution G T upstream_gene_variant BRCA-UK 12 122445157 122445157 single base substitution C G downstream_gene_variant BRCA-US 12 122359385 122359385 deletion of <=200bp C - exon_variant BRCA-US 12 122359385 122359385 deletion of <=200bp C - frameshift_variant G58 BRCA-US 12 122359392 122359392 single base substitution G A exon_variant BRCA-US 12 122359392 122359392 single base substitution G A missense_variant E61K 181G>A BRCA-US 12 122361793 122361793 single base substitution C T exon_variant BRCA-US 12 122361793 122361793 single base substitution C T missense_variant S215F 644C>T BRCA-US 12 122361879 122361879 insertion of <=200bp - C exon_variant BRCA-US 12 122361879 122361879 insertion of <=200bp - C frameshift_variant T244H? BRCA-US 12 122395019 122395019 single base substitution C G exon_variant BRCA-US 12 122395019 122395019 single base substitution C G missense_variant F525L 1575C>G BRCA-US 12 122395019 122395019 single base substitution C G upstream_gene_variant BRCA-US 12 122395093 122395093 single base substitution C T exon_variant BRCA-US 12 122395093 122395093 single base substitution C T missense_variant S550L 1649C>T BRCA-US 12 122395093 122395093 single base substitution C T upstream_gene_variant BRCA-US 12 122399920 122399920 single base substitution C A downstream_gene_variant BRCA-US 12 122399920 122399920 single base substitution C A exon_variant BRCA-US 12 122399920 122399920 single base substitution C A missense_variant L782M 2344C>A BRCA-US 12 122404947 122404947 single base substitution G A exon_variant BRCA-US 12 122404947 122404947 single base substitution G A missense_variant R860H 2579G>A BRCA-US 12 122413473 122413473 single base substitution C T downstream_gene_variant BRCA-US 12 122413473 122413473 single base substitution C T missense_variant S963F 2888C>T BRCA-US 12 122413496 122413496 single base substitution G C downstream_gene_variant BRCA-US 12 122413496 122413496 single base substitution G C missense_variant D971H 2911G>C BRCA-US 12 122413586 122413586 single base substitution G A downstream_gene_variant BRCA-US 12 122413586 122413586 single base substitution G A missense_variant E1001K 3001G>A BRCA-US 12 122437780 122437780 single base substitution C T exon_variant BRCA-US 12 122437780 122437780 single base substitution C T synonymous_variant L1055L 3165C>T BRCA-US 12 122437780 122437780 single base substitution C T upstream_gene_variant BRCA-US 12 122437845 122437845 single base substitution C T exon_variant BRCA-US 12 122437845 122437845 single base substitution C T missense_variant T1077I 3230C>T BRCA-US 12 122437845 122437845 single base substitution C T upstream_gene_variant BRCA-US 12 122441575 122441575 single base substitution G A exon_variant BRCA-US 12 122441575 122441575 single base substitution G A missense_variant E1119K 3355G>A BRCA-US 12 122441598 122441598 single base substitution C T exon_variant BRCA-US 12 122441598 122441598 single base substitution C T synonymous_variant I1126I 3378C>T BTCA-JP 12 122359398 122359398 insertion of <=200bp - GAGGAGGAGGAGAAA exon_variant BTCA-JP 12 122359398 122359398 insertion of <=200bp - GAGGAGGAGGAGAAA inframe_insertion E63EEEEKE BTCA-JP 12 122372056 122372056 single base substitution G A downstream_gene_variant BTCA-JP 12 122372056 122372056 single base substitution G A intron_variant BTCA-JP 12 122372056 122372056 single base substitution G A upstream_gene_variant BTCA-JP 12 122372452 122372452 single base substitution C G downstream_gene_variant BTCA-JP 12 122372452 122372452 single base substitution C G intron_variant BTCA-JP 12 122409400 122409400 single base substitution G C downstream_gene_variant BTCA-JP 12 122409400 122409400 single base substitution G C intron_variant BTCA-JP 12 122437887 122437887 single base substitution G T intron_variant BTCA-JP 12 122437887 122437887 single base substitution G T upstream_gene_variant BTCA-JP 12 122441592 122441592 single base substitution C T exon_variant BTCA-JP 12 122441592 122441592 single base substitution C T synonymous_variant D1124D 3372C>T CESC-US 12 122353787 122353787 single base substitution G T upstream_gene_variant CESC-US 12 122359395 122359397 deletion of <=200bp GGG - exon_variant CESC-US 12 122359395 122359397 deletion of <=200bp GGG - inframe_deletion G62 CESC-US 12 122361672 122361672 single base substitution G A exon_variant CESC-US 12 122361672 122361672 single base substitution G A missense_variant E175K 523G>A CESC-US 12 122413586 122413586 single base substitution G A downstream_gene_variant CESC-US 12 122413586 122413586 single base substitution G A missense_variant E1001K 3001G>A CESC-US 12 122437841 122437841 single base substitution G A exon_variant CESC-US 12 122437841 122437841 single base substitution G A missense_variant V1076I 3226G>A CESC-US 12 122437841 122437841 single base substitution G A upstream_gene_variant CLLE-ES 12 122363754 122363754 single base substitution A T intron_variant CLLE-ES 12 122377105 122377105 single base substitution T C intron_variant CLLE-ES 12 122389565 122389565 single base substitution T A downstream_gene_variant CLLE-ES 12 122389565 122389565 single base substitution T A intron_variant CLLE-ES 12 122389565 122389565 single base substitution T A upstream_gene_variant CLLE-ES 12 122392291 122392291 single base substitution T A intron_variant CLLE-ES 12 122397693 122397693 single base substitution G A downstream_gene_variant CLLE-ES 12 122397693 122397693 single base substitution G A intron_variant CLLE-ES 12 122397693 122397693 single base substitution G A upstream_gene_variant CLLE-ES 12 122408614 122408614 single base substitution G A downstream_gene_variant CLLE-ES 12 122408614 122408614 single base substitution G A intron_variant CLLE-ES 12 122428830 122428830 single base substitution C T intron_variant CLLE-ES 12 122438911 122438911 single base substitution A G intron_variant CLLE-ES 12 122438911 122438911 single base substitution A G upstream_gene_variant CLLE-ES 12 122442642 122442642 single base substitution C T downstream_gene_variant CLLE-ES 12 122442662 122442662 single base substitution C G downstream_gene_variant CLLE-ES 12 122442685 122442685 single base substitution A G downstream_gene_variant CLLE-ES 12 122442696 122442696 single base substitution T G downstream_gene_variant CLLE-ES 12 122443463 122443463 single base substitution A C downstream_gene_variant COAD-US 12 122353845 122353845 single base substitution G A upstream_gene_variant COAD-US 12 122359395 122359397 deletion of <=200bp GGG - exon_variant COAD-US 12 122359395 122359397 deletion of <=200bp GGG - inframe_deletion G62 COAD-US 12 122359397 122359397 insertion of <=200bp - GAGGAGGAGGAGAAA exon_variant COAD-US 12 122359397 122359397 insertion of <=200bp - GAGGAGGAGGAGAAA inframe_insertion G62GRRRRK COAD-US 12 122359408 122359408 single base substitution G A exon_variant COAD-US 12 122359408 122359408 single base substitution G A missense_variant G66E 197G>A COAD-US 12 122359412 122359412 single base substitution G A exon_variant COAD-US 12 122359412 122359412 single base substitution G A synonymous_variant K67K 201G>A COAD-US 12 122361728 122361728 single base substitution A T exon_variant COAD-US 12 122361728 122361728 single base substitution A T missense_variant E193D 579A>T COAD-US 12 122361765 122361766 deletion of <=200bp AG - exon_variant COAD-US 12 122361765 122361766 deletion of <=200bp AG - frameshift_variant R206 COAD-US 12 122369704 122369704 single base substitution G A exon_variant COAD-US 12 122369704 122369704 single base substitution G A missense_variant R267Q 800G>A COAD-US 12 122369704 122369704 single base substitution G A upstream_gene_variant COAD-US 12 122369731 122369731 single base substitution A G exon_variant COAD-US 12 122369731 122369731 single base substitution A G missense_variant Y276C 827A>G COAD-US 12 122369731 122369731 single base substitution A G upstream_gene_variant COAD-US 12 122369762 122369762 single base substitution C T exon_variant COAD-US 12 122369762 122369762 single base substitution C T synonymous_variant N286N 858C>T COAD-US 12 122369762 122369762 single base substitution C T upstream_gene_variant COAD-US 12 122396368 122396368 single base substitution C A exon_variant COAD-US 12 122396368 122396368 single base substitution C A missense_variant L641I 1921C>A COAD-US 12 122396368 122396368 single base substitution C A upstream_gene_variant COAD-US 12 122396395 122396395 single base substitution C T exon_variant COAD-US 12 122396395 122396395 single base substitution C T missense_variant L650F 1948C>T COAD-US 12 122396395 122396395 single base substitution C T upstream_gene_variant COAD-US 12 122396851 122396851 single base substitution G A missense_variant A662T 1984G>A COAD-US 12 122396851 122396851 single base substitution G A splice_region_variant COAD-US 12 122396851 122396851 single base substitution G A upstream_gene_variant COAD-US 12 122399889 122399889 single base substitution G A downstream_gene_variant COAD-US 12 122399889 122399889 single base substitution G A synonymous_variant E771E 2313G>A COAD-US 12 122399889 122399889 single base substitution G A upstream_gene_variant COAD-US 12 122405912 122405912 single base substitution G T missense_variant V870L 2608G>T COAD-US 12 122405912 122405912 single base substitution G T splice_region_variant COAD-US 12 122406016 122406016 single base substitution C T exon_variant COAD-US 12 122406016 122406016 single base substitution C T synonymous_variant C904C 2712C>T COAD-US 12 122437640 122437640 single base substitution G A exon_variant COAD-US 12 122437640 122437640 single base substitution G A missense_variant E1009K 3025G>A COAD-US 12 122437640 122437640 single base substitution G A upstream_gene_variant COAD-US 12 122439487 122439487 single base substitution C T exon_variant COAD-US 12 122439487 122439487 single base substitution C T missense_variant A1107V 3320C>T COAD-US 12 122439487 122439487 single base substitution C T upstream_gene_variant COAD-US 12 122441599 122441599 single base substitution A G exon_variant COAD-US 12 122441599 122441599 single base substitution A G missense_variant T1127A 3379A>G COAD-US 12 122441614 122441614 single base substitution G A exon_variant COAD-US 12 122441614 122441614 single base substitution G A missense_variant A1132T 3394G>A COCA-CN 12 122353989 122353989 single base substitution C T upstream_gene_variant COCA-CN 12 122369749 122369749 single base substitution C T exon_variant COCA-CN 12 122369749 122369749 single base substitution C T missense_variant A282V 845C>T COCA-CN 12 122369749 122369749 single base substitution C T upstream_gene_variant COCA-CN 12 122396828 122396828 single base substitution T G intron_variant COCA-CN 12 122396828 122396828 single base substitution T G upstream_gene_variant COCA-CN 12 122398571 122398571 single base substitution C T downstream_gene_variant COCA-CN 12 122398571 122398571 single base substitution C T synonymous_variant R738R 2214C>T COCA-CN 12 122398571 122398571 single base substitution C T upstream_gene_variant COCA-CN 12 122409664 122409664 single base substitution T C 3_prime_UTR_variant COCA-CN 12 122409664 122409664 single base substitution T C downstream_gene_variant COCA-CN 12 122409664 122409664 single base substitution T C intron_variant COCA-CN 12 122430442 122430442 single base substitution C T intron_variant COCA-CN 12 122430442 122430442 single base substitution C T upstream_gene_variant COCA-CN 12 122437604 122437604 single base substitution T C exon_variant COCA-CN 12 122437604 122437604 single base substitution T C intron_variant COCA-CN 12 122437604 122437604 single base substitution T C upstream_gene_variant COCA-CN 12 122437605 122437605 single base substitution C T exon_variant COCA-CN 12 122437605 122437605 single base substitution C T intron_variant COCA-CN 12 122437605 122437605 single base substitution C T upstream_gene_variant COCA-CN 12 122437815 122437815 single base substitution G A exon_variant COCA-CN 12 122437815 122437815 single base substitution G A missense_variant R1067Q 3200G>A COCA-CN 12 122437815 122437815 single base substitution G A upstream_gene_variant COCA-CN 12 122439311 122439311 single base substitution C T intron_variant COCA-CN 12 122439311 122439311 single base substitution C T upstream_gene_variant COCA-CN 12 122441615 122441615 single base substitution C T exon_variant COCA-CN 12 122441615 122441615 single base substitution C T missense_variant A1132V 3395C>T COCA-CN 12 122441779 122441779 single base substitution C A 3_prime_UTR_variant COCA-CN 12 122441779 122441779 single base substitution C A downstream_gene_variant COCA-CN 12 122441779 122441779 single base substitution C A exon_variant ESAD-UK 12 122352682 122352682 single base substitution C T upstream_gene_variant ESAD-UK 12 122354160 122354160 single base substitution T G upstream_gene_variant ESAD-UK 12 122357047 122357047 insertion of <=200bp - T intron_variant ESAD-UK 12 122357047 122357047 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 122357052 122357052 insertion of <=200bp - ATTA intron_variant ESAD-UK 12 122357052 122357052 insertion of <=200bp - ATTA upstream_gene_variant ESAD-UK 12 122357462 122357462 single base substitution G A intron_variant ESAD-UK 12 122357462 122357462 single base substitution G A upstream_gene_variant ESAD-UK 12 122359724 122359724 single base substitution C A intron_variant ESAD-UK 12 122360592 122360592 single base substitution G A intron_variant ESAD-UK 12 122363302 122363302 single base substitution C T intron_variant ESAD-UK 12 122363322 122363322 single base substitution A C intron_variant ESAD-UK 12 122364945 122364945 single base substitution A C intron_variant ESAD-UK 12 122365350 122365350 single base substitution C T intron_variant ESAD-UK 12 122372112 122372112 single base substitution C A downstream_gene_variant ESAD-UK 12 122372112 122372112 single base substitution C A intron_variant ESAD-UK 12 122372112 122372112 single base substitution C A upstream_gene_variant ESAD-UK 12 122375487 122375487 single base substitution G A downstream_gene_variant ESAD-UK 12 122375487 122375487 single base substitution G A intron_variant ESAD-UK 12 122376132 122376132 single base substitution C T downstream_gene_variant ESAD-UK 12 122376132 122376132 single base substitution C T intron_variant ESAD-UK 12 122376374 122376374 single base substitution T C downstream_gene_variant ESAD-UK 12 122376374 122376374 single base substitution T C intron_variant ESAD-UK 12 122376996 122376996 single base substitution C G intron_variant ESAD-UK 12 122377510 122377510 single base substitution T A intron_variant ESAD-UK 12 122378436 122378439 deletion of <=200bp AAAC - intron_variant ESAD-UK 12 122380872 122380872 single base substitution C T exon_variant ESAD-UK 12 122380872 122380872 single base substitution C T synonymous_variant Y394Y 1182C>T ESAD-UK 12 122380872 122380872 single base substitution C T upstream_gene_variant ESAD-UK 12 122384654 122384654 insertion of <=200bp - G intron_variant ESAD-UK 12 122384654 122384654 insertion of <=200bp - G upstream_gene_variant ESAD-UK 12 122388559 122388559 single base substitution G A downstream_gene_variant ESAD-UK 12 122388559 122388559 single base substitution G A exon_variant ESAD-UK 12 122388559 122388559 single base substitution G A intron_variant ESAD-UK 12 122388559 122388559 single base substitution G A upstream_gene_variant ESAD-UK 12 122396379 122396379 single base substitution G A exon_variant ESAD-UK 12 122396379 122396379 single base substitution G A synonymous_variant R644R 1932G>A ESAD-UK 12 122396379 122396379 single base substitution G A upstream_gene_variant ESAD-UK 12 122397280 122397280 single base substitution G A downstream_gene_variant ESAD-UK 12 122397280 122397280 single base substitution G A exon_variant ESAD-UK 12 122397280 122397280 single base substitution G A intron_variant ESAD-UK 12 122397280 122397280 single base substitution G A upstream_gene_variant ESAD-UK 12 122398155 122398155 single base substitution G A downstream_gene_variant ESAD-UK 12 122398155 122398155 single base substitution G A intron_variant ESAD-UK 12 122398155 122398155 single base substitution G A upstream_gene_variant ESAD-UK 12 122398451 122398451 single base substitution C T downstream_gene_variant ESAD-UK 12 122398451 122398451 single base substitution C T intron_variant ESAD-UK 12 122398451 122398451 single base substitution C T upstream_gene_variant ESAD-UK 12 122398710 122398710 single base substitution C T downstream_gene_variant ESAD-UK 12 122398710 122398710 single base substitution C T intron_variant ESAD-UK 12 122398710 122398710 single base substitution C T upstream_gene_variant ESAD-UK 12 122398833 122398833 single base substitution G A downstream_gene_variant ESAD-UK 12 122398833 122398833 single base substitution G A intron_variant ESAD-UK 12 122398833 122398833 single base substitution G A upstream_gene_variant ESAD-UK 12 122400718 122400718 single base substitution G A downstream_gene_variant ESAD-UK 12 122400718 122400718 single base substitution G A intron_variant ESAD-UK 12 122403074 122403074 single base substitution C G intron_variant ESAD-UK 12 122405848 122405848 single base substitution G A intron_variant ESAD-UK 12 122406398 122406398 single base substitution C T intron_variant ESAD-UK 12 122409780 122409780 single base substitution G T 3_prime_UTR_variant ESAD-UK 12 122409780 122409780 single base substitution G T downstream_gene_variant ESAD-UK 12 122409780 122409780 single base substitution G T intron_variant ESAD-UK 12 122409830 122409830 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 122409830 122409830 single base substitution A G downstream_gene_variant ESAD-UK 12 122409830 122409830 single base substitution A G intron_variant ESAD-UK 12 122412544 122412544 single base substitution G T downstream_gene_variant ESAD-UK 12 122412544 122412544 single base substitution G T intron_variant ESAD-UK 12 122414049 122414049 single base substitution G A downstream_gene_variant ESAD-UK 12 122414049 122414049 single base substitution G A intron_variant ESAD-UK 12 122415462 122415462 single base substitution A G intron_variant ESAD-UK 12 122415738 122415738 single base substitution G A intron_variant ESAD-UK 12 122416522 122416522 insertion of <=200bp - TA intron_variant ESAD-UK 12 122416877 122416877 single base substitution C T intron_variant ESAD-UK 12 122417290 122417290 single base substitution C T intron_variant ESAD-UK 12 122418129 122418129 single base substitution C A intron_variant ESAD-UK 12 122419637 122419637 single base substitution G A intron_variant ESAD-UK 12 122420247 122420247 single base substitution A T intron_variant ESAD-UK 12 122423354 122423354 single base substitution C T intron_variant ESAD-UK 12 122423966 122423966 single base substitution C T intron_variant ESAD-UK 12 122424228 122424228 single base substitution G A intron_variant ESAD-UK 12 122425206 122425206 single base substitution G T intron_variant ESAD-UK 12 122425359 122425359 single base substitution A G intron_variant ESAD-UK 12 122426502 122426502 single base substitution G A intron_variant ESAD-UK 12 122433611 122433611 single base substitution C G intron_variant ESAD-UK 12 122433611 122433611 single base substitution C G upstream_gene_variant ESAD-UK 12 122435401 122435401 single base substitution G A exon_variant ESAD-UK 12 122435401 122435401 single base substitution G A intron_variant ESAD-UK 12 122435401 122435401 single base substitution G A upstream_gene_variant ESAD-UK 12 122435536 122435536 single base substitution A G exon_variant ESAD-UK 12 122435536 122435536 single base substitution A G intron_variant ESAD-UK 12 122435536 122435536 single base substitution A G upstream_gene_variant ESAD-UK 12 122437290 122437290 single base substitution T C exon_variant ESAD-UK 12 122437290 122437290 single base substitution T C intron_variant ESAD-UK 12 122437290 122437290 single base substitution T C upstream_gene_variant ESAD-UK 12 122439909 122439909 single base substitution G A intron_variant ESAD-UK 12 122440239 122440239 single base substitution T C intron_variant ESAD-UK 12 122442801 122442801 single base substitution A T downstream_gene_variant ESAD-UK 12 122444652 122444652 single base substitution C T downstream_gene_variant ESCA-CN 12 122359275 122359275 single base substitution G C missense_variant E22Q 64G>C ESCA-CN 12 122359275 122359275 single base substitution G C upstream_gene_variant ESCA-CN 12 122406040 122406040 single base substitution C T exon_variant ESCA-CN 12 122406040 122406040 single base substitution C T synonymous_variant H912H 2736C>T ESCA-CN 12 122441502 122441502 single base substitution A T intron_variant GBM-US 12 122437781 122437781 single base substitution G A exon_variant GBM-US 12 122437781 122437781 single base substitution G A missense_variant G1056S 3166G>A GBM-US 12 122437781 122437781 single base substitution G A upstream_gene_variant KIRP-US 12 122398516 122398516 single base substitution A G downstream_gene_variant KIRP-US 12 122398516 122398516 single base substitution A G missense_variant Y720C 2159A>G KIRP-US 12 122398516 122398516 single base substitution A G upstream_gene_variant LAML-KR 12 122353796 122353796 single base substitution A G upstream_gene_variant LAML-KR 12 122362395 122362395 single base substitution A G intron_variant LAML-KR 12 122372176 122372176 single base substitution C T downstream_gene_variant LAML-KR 12 122372176 122372176 single base substitution C T exon_variant LAML-KR 12 122372176 122372176 single base substitution C T synonymous_variant C304C 912C>T LAML-KR 12 122372183 122372183 single base substitution G A downstream_gene_variant LAML-KR 12 122372183 122372183 single base substitution G A exon_variant LAML-KR 12 122372183 122372183 single base substitution G A missense_variant V307I 919G>A LAML-KR 12 122400049 122400049 single base substitution G A downstream_gene_variant LAML-KR 12 122400049 122400049 single base substitution G A exon_variant LAML-KR 12 122400049 122400049 single base substitution G A missense_variant A825T 2473G>A LAML-KR 12 122404584 122404584 single base substitution C T intron_variant LAML-KR 12 122404587 122404587 single base substitution T G intron_variant LAML-KR 12 122443748 122443748 single base substitution G T downstream_gene_variant LGG-US 12 122399967 122399967 single base substitution C T downstream_gene_variant LGG-US 12 122399967 122399967 single base substitution C T exon_variant LGG-US 12 122399967 122399967 single base substitution C T synonymous_variant T797T 2391C>T LICA-CN 12 122361700 122361700 single base substitution A T exon_variant LICA-CN 12 122361700 122361700 single base substitution A T missense_variant E184V 551A>T LICA-CN 12 122399935 122399935 single base substitution A G downstream_gene_variant LICA-CN 12 122399935 122399935 single base substitution A G exon_variant LICA-CN 12 122399935 122399935 single base substitution A G missense_variant I787V 2359A>G LICA-CN 12 122437814 122437814 single base substitution C A exon_variant LICA-CN 12 122437814 122437814 single base substitution C A synonymous_variant R1067R 3199C>A LICA-CN 12 122437814 122437814 single base substitution C A upstream_gene_variant LICA-FR 12 122358716 122358716 single base substitution G C intron_variant LICA-FR 12 122358716 122358716 single base substitution G C upstream_gene_variant LICA-FR 12 122360392 122360392 single base substitution G A intron_variant LICA-FR 12 122361774 122361774 single base substitution G A exon_variant LICA-FR 12 122361774 122361774 single base substitution G A missense_variant G209R 625G>A LICA-FR 12 122364505 122364505 single base substitution A T intron_variant LICA-FR 12 122369258 122369258 single base substitution G A intron_variant LICA-FR 12 122369258 122369258 single base substitution G A upstream_gene_variant LICA-FR 12 122387171 122387171 single base substitution T G downstream_gene_variant LICA-FR 12 122387171 122387171 single base substitution T G exon_variant LICA-FR 12 122387171 122387171 single base substitution T G intron_variant LICA-FR 12 122387171 122387171 single base substitution T G upstream_gene_variant LICA-FR 12 122387186 122387186 single base substitution G T downstream_gene_variant LICA-FR 12 122387186 122387186 single base substitution G T exon_variant LICA-FR 12 122387186 122387186 single base substitution G T intron_variant LICA-FR 12 122387186 122387186 single base substitution G T upstream_gene_variant LICA-FR 12 122395042 122395042 single base substitution T C exon_variant LICA-FR 12 122395042 122395042 single base substitution T C missense_variant V533A 1598T>C LICA-FR 12 122395042 122395042 single base substitution T C upstream_gene_variant LICA-FR 12 122396631 122396631 single base substitution G C intron_variant LICA-FR 12 122396631 122396631 single base substitution G C upstream_gene_variant LIHC-US 12 122396358 122396358 single base substitution C A exon_variant LIHC-US 12 122396358 122396358 single base substitution C A missense_variant N637K 1911C>A LIHC-US 12 122396358 122396358 single base substitution C A upstream_gene_variant LIHC-US 12 122413230 122413230 single base substitution A G downstream_gene_variant LIHC-US 12 122413230 122413230 single base substitution A G missense_variant K951R 2852A>G LINC-JP 12 122359392 122359392 single base substitution G A exon_variant LINC-JP 12 122359392 122359392 single base substitution G A missense_variant E61K 181G>A LINC-JP 12 122359714 122359714 single base substitution G T intron_variant LINC-JP 12 122359715 122359715 single base substitution A T intron_variant LINC-JP 12 122365095 122365095 deletion of <=200bp T - intron_variant LINC-JP 12 122366524 122366524 single base substitution G A intron_variant LINC-JP 12 122380484 122380484 single base substitution G A exon_variant LINC-JP 12 122380484 122380484 single base substitution G A missense_variant G348D 1043G>A LINC-JP 12 122436795 122436795 single base substitution C A exon_variant LINC-JP 12 122436795 122436795 single base substitution C A intron_variant LINC-JP 12 122436795 122436795 single base substitution C A upstream_gene_variant LINC-JP 12 122446474 122446474 single base substitution A T downstream_gene_variant LIRI-JP 12 122350904 122350904 single base substitution A G upstream_gene_variant LIRI-JP 12 122354798 122354798 single base substitution G T upstream_gene_variant LIRI-JP 12 122357010 122357010 single base substitution C T intron_variant LIRI-JP 12 122357010 122357010 single base substitution C T upstream_gene_variant LIRI-JP 12 122357682 122357682 single base substitution G T intron_variant LIRI-JP 12 122357682 122357682 single base substitution G T upstream_gene_variant LIRI-JP 12 122359463 122359463 insertion of <=200bp - C exon_variant LIRI-JP 12 122359463 122359463 insertion of <=200bp - C frameshift_variant V84V? LIRI-JP 12 122362024 122362024 deletion of <=200bp G - intron_variant LIRI-JP 12 122368810 122368810 single base substitution A G intron_variant LIRI-JP 12 122368810 122368810 single base substitution A G upstream_gene_variant LIRI-JP 12 122370185 122370185 single base substitution C T exon_variant LIRI-JP 12 122370185 122370185 single base substitution C T intron_variant LIRI-JP 12 122370185 122370185 single base substitution C T upstream_gene_variant LIRI-JP 12 122373497 122373497 single base substitution G A downstream_gene_variant LIRI-JP 12 122373497 122373497 single base substitution G A intron_variant LIRI-JP 12 122375008 122375008 single base substitution T C downstream_gene_variant LIRI-JP 12 122375008 122375008 single base substitution T C intron_variant LIRI-JP 12 122382547 122382547 single base substitution A G intron_variant LIRI-JP 12 122382547 122382547 single base substitution A G upstream_gene_variant LIRI-JP 12 122383396 122383396 single base substitution C T intron_variant LIRI-JP 12 122383396 122383396 single base substitution C T upstream_gene_variant LIRI-JP 12 122383927 122383927 single base substitution A G intron_variant LIRI-JP 12 122383927 122383927 single base substitution A G upstream_gene_variant LIRI-JP 12 122389302 122389302 single base substitution A G downstream_gene_variant LIRI-JP 12 122389302 122389302 single base substitution A G exon_variant LIRI-JP 12 122389302 122389302 single base substitution A G intron_variant LIRI-JP 12 122389302 122389302 single base substitution A G upstream_gene_variant LIRI-JP 12 122390767 122390767 single base substitution C T downstream_gene_variant LIRI-JP 12 122390767 122390767 single base substitution C T exon_variant LIRI-JP 12 122390767 122390767 single base substitution C T intron_variant LIRI-JP 12 122393544 122393544 single base substitution T C intron_variant LIRI-JP 12 122394504 122394504 single base substitution C T intron_variant LIRI-JP 12 122395102 122395102 single base substitution C T exon_variant LIRI-JP 12 122395102 122395102 single base substitution C T missense_variant P553L 1658C>T LIRI-JP 12 122395102 122395102 single base substitution C T upstream_gene_variant LIRI-JP 12 122396098 122396098 single base substitution T C intron_variant LIRI-JP 12 122396098 122396098 single base substitution T C upstream_gene_variant LIRI-JP 12 122396144 122396144 single base substitution C T intron_variant LIRI-JP 12 122396144 122396144 single base substitution C T upstream_gene_variant LIRI-JP 12 122396338 122396338 single base substitution A G exon_variant LIRI-JP 12 122396338 122396338 single base substitution A G missense_variant K631E 1891A>G LIRI-JP 12 122396338 122396338 single base substitution A G upstream_gene_variant LIRI-JP 12 122399040 122399040 single base substitution G T downstream_gene_variant LIRI-JP 12 122399040 122399040 single base substitution G T intron_variant LIRI-JP 12 122399040 122399040 single base substitution G T upstream_gene_variant LIRI-JP 12 122401044 122401044 single base substitution G A downstream_gene_variant LIRI-JP 12 122401044 122401044 single base substitution G A intron_variant LIRI-JP 12 122401567 122401567 single base substitution C T downstream_gene_variant LIRI-JP 12 122401567 122401567 single base substitution C T intron_variant LIRI-JP 12 122404788 122404788 single base substitution C T intron_variant LIRI-JP 12 122408297 122408297 single base substitution A G downstream_gene_variant LIRI-JP 12 122408297 122408297 single base substitution A G intron_variant LIRI-JP 12 122410368 122410368 single base substitution A G downstream_gene_variant LIRI-JP 12 122410368 122410368 single base substitution A G intron_variant LIRI-JP 12 122410663 122410663 single base substitution G C downstream_gene_variant LIRI-JP 12 122410663 122410663 single base substitution G C intron_variant LIRI-JP 12 122410700 122410700 single base substitution G A downstream_gene_variant LIRI-JP 12 122410700 122410700 single base substitution G A intron_variant LIRI-JP 12 122412890 122412890 single base substitution C T downstream_gene_variant LIRI-JP 12 122412890 122412890 single base substitution C T intron_variant LIRI-JP 12 122414462 122414462 single base substitution C A downstream_gene_variant LIRI-JP 12 122414462 122414462 single base substitution C A intron_variant LIRI-JP 12 122414682 122414682 single base substitution G T downstream_gene_variant LIRI-JP 12 122414682 122414682 single base substitution G T intron_variant LIRI-JP 12 122415959 122415959 single base substitution T C intron_variant LIRI-JP 12 122417595 122417595 single base substitution C T intron_variant LIRI-JP 12 122419534 122419534 single base substitution T C intron_variant LIRI-JP 12 122419540 122419540 single base substitution A G intron_variant LIRI-JP 12 122420500 122420500 single base substitution T A intron_variant LIRI-JP 12 122420501 122420501 single base substitution C G intron_variant LIRI-JP 12 122421726 122421726 single base substitution T C intron_variant LIRI-JP 12 122425609 122425609 single base substitution G T intron_variant LIRI-JP 12 122426793 122426793 single base substitution C T intron_variant LIRI-JP 12 122428537 122428537 single base substitution C A intron_variant LIRI-JP 12 122429550 122429550 single base substitution C T intron_variant LIRI-JP 12 122432975 122432975 single base substitution T G intron_variant LIRI-JP 12 122432975 122432975 single base substitution T G upstream_gene_variant LIRI-JP 12 122438029 122438029 single base substitution G A intron_variant LIRI-JP 12 122438029 122438029 single base substitution G A upstream_gene_variant LIRI-JP 12 122444854 122444854 single base substitution G T downstream_gene_variant LIRI-JP 12 122444865 122444865 single base substitution G T downstream_gene_variant LIRI-JP 12 122446190 122446190 single base substitution C A downstream_gene_variant LUSC-KR 12 122352402 122352402 single base substitution G A upstream_gene_variant LUSC-KR 12 122354715 122354715 single base substitution A C upstream_gene_variant LUSC-KR 12 122356435 122356435 single base substitution G A 5_prime_UTR_variant LUSC-KR 12 122356435 122356435 single base substitution G A upstream_gene_variant LUSC-KR 12 122356436 122356436 single base substitution C T 5_prime_UTR_variant LUSC-KR 12 122356436 122356436 single base substitution C T upstream_gene_variant LUSC-KR 12 122360719 122360719 single base substitution G A intron_variant LUSC-KR 12 122362395 122362395 single base substitution A G intron_variant LUSC-KR 12 122369780 122369780 single base substitution A G exon_variant LUSC-KR 12 122369780 122369780 single base substitution A G synonymous_variant Q292Q 876A>G LUSC-KR 12 122369780 122369780 single base substitution A G upstream_gene_variant LUSC-KR 12 122374247 122374247 single base substitution G A downstream_gene_variant LUSC-KR 12 122374247 122374247 single base substitution G A intron_variant LUSC-KR 12 122374846 122374846 single base substitution G C downstream_gene_variant LUSC-KR 12 122374846 122374846 single base substitution G C intron_variant LUSC-KR 12 122377833 122377833 single base substitution C T intron_variant LUSC-KR 12 122380938 122380938 single base substitution G T intron_variant LUSC-KR 12 122380938 122380938 single base substitution G T upstream_gene_variant LUSC-KR 12 122382052 122382052 single base substitution C A intron_variant LUSC-KR 12 122382052 122382052 single base substitution C A upstream_gene_variant LUSC-KR 12 122382747 122382747 single base substitution G A intron_variant LUSC-KR 12 122382747 122382747 single base substitution G A upstream_gene_variant LUSC-KR 12 122389961 122389961 single base substitution G T downstream_gene_variant LUSC-KR 12 122389961 122389961 single base substitution G T intron_variant LUSC-KR 12 122389961 122389961 single base substitution G T upstream_gene_variant LUSC-KR 12 122390770 122390770 single base substitution T C downstream_gene_variant LUSC-KR 12 122390770 122390770 single base substitution T C exon_variant LUSC-KR 12 122390770 122390770 single base substitution T C intron_variant LUSC-KR 12 122391325 122391325 single base substitution C T downstream_gene_variant LUSC-KR 12 122391325 122391325 single base substitution C T exon_variant LUSC-KR 12 122391325 122391325 single base substitution C T intron_variant LUSC-KR 12 122392038 122392038 single base substitution C T downstream_gene_variant LUSC-KR 12 122392038 122392038 single base substitution C T exon_variant LUSC-KR 12 122392038 122392038 single base substitution C T intron_variant LUSC-KR 12 122392038 122392038 single base substitution C T missense_variant L445F 1333C>T LUSC-KR 12 122398152 122398152 single base substitution T A downstream_gene_variant LUSC-KR 12 122398152 122398152 single base substitution T A intron_variant LUSC-KR 12 122398152 122398152 single base substitution T A upstream_gene_variant LUSC-KR 12 122398341 122398341 single base substitution C T downstream_gene_variant LUSC-KR 12 122398341 122398341 single base substitution C T intron_variant LUSC-KR 12 122398341 122398341 single base substitution C T upstream_gene_variant LUSC-KR 12 122400646 122400646 single base substitution T G downstream_gene_variant LUSC-KR 12 122400646 122400646 single base substitution T G intron_variant LUSC-KR 12 122404127 122404127 single base substitution T C intron_variant LUSC-KR 12 122407201 122407201 single base substitution C G intron_variant LUSC-KR 12 122408131 122408131 single base substitution G A downstream_gene_variant LUSC-KR 12 122408131 122408131 single base substitution G A intron_variant LUSC-KR 12 122408493 122408493 single base substitution A G downstream_gene_variant LUSC-KR 12 122408493 122408493 single base substitution A G intron_variant LUSC-KR 12 122413196 122413196 single base substitution T C downstream_gene_variant LUSC-KR 12 122413196 122413196 single base substitution T C missense_variant F940L 2818T>C LUSC-KR 12 122414104 122414104 single base substitution G A downstream_gene_variant LUSC-KR 12 122414104 122414104 single base substitution G A intron_variant LUSC-KR 12 122421137 122421137 single base substitution G T intron_variant LUSC-KR 12 122426486 122426486 single base substitution G C intron_variant LUSC-KR 12 122430887 122430887 single base substitution G C intron_variant LUSC-KR 12 122430887 122430887 single base substitution G C upstream_gene_variant LUSC-KR 12 122431670 122431670 single base substitution T A intron_variant LUSC-KR 12 122431670 122431670 single base substitution T A upstream_gene_variant LUSC-KR 12 122431818 122431818 single base substitution C T intron_variant LUSC-KR 12 122431818 122431818 single base substitution C T upstream_gene_variant LUSC-KR 12 122432256 122432256 single base substitution T C intron_variant LUSC-KR 12 122432256 122432256 single base substitution T C upstream_gene_variant LUSC-KR 12 122441387 122441387 single base substitution G C intron_variant LUSC-KR 12 122441894 122441894 single base substitution G T downstream_gene_variant LUSC-KR 12 122442877 122442877 single base substitution C A downstream_gene_variant LUSC-US 12 122359576 122359576 single base substitution C T exon_variant LUSC-US 12 122359576 122359576 single base substitution C T missense_variant S122L 365C>T LUSC-US 12 122395069 122395069 single base substitution G C exon_variant LUSC-US 12 122395069 122395069 single base substitution G C missense_variant G542A 1625G>C LUSC-US 12 122395069 122395069 single base substitution G C upstream_gene_variant LUSC-US 12 122413496 122413496 single base substitution G A downstream_gene_variant LUSC-US 12 122413496 122413496 single base substitution G A missense_variant D971N 2911G>A LUSC-US 12 122413512 122413512 single base substitution G C downstream_gene_variant LUSC-US 12 122413512 122413512 single base substitution G C missense_variant R976T 2927G>C LUSC-US 12 122437833 122437833 single base substitution G C exon_variant LUSC-US 12 122437833 122437833 single base substitution G C missense_variant R1073T 3218G>C LUSC-US 12 122437833 122437833 single base substitution G C upstream_gene_variant MALY-DE 12 122356435 122356435 single base substitution G A 5_prime_UTR_variant MALY-DE 12 122356435 122356435 single base substitution G A upstream_gene_variant MALY-DE 12 122356436 122356436 single base substitution C T 5_prime_UTR_variant MALY-DE 12 122356436 122356436 single base substitution C T upstream_gene_variant MALY-DE 12 122363211 122363211 single base substitution T G intron_variant MALY-DE 12 122367670 122367670 single base substitution G A intron_variant MALY-DE 12 122367670 122367670 single base substitution G A upstream_gene_variant MALY-DE 12 122375773 122375773 single base substitution C T downstream_gene_variant MALY-DE 12 122375773 122375773 single base substitution C T intron_variant MALY-DE 12 122376133 122376133 single base substitution G A downstream_gene_variant MALY-DE 12 122376133 122376133 single base substitution G A intron_variant MALY-DE 12 122377510 122377510 single base substitution T A intron_variant MALY-DE 12 122380245 122380245 single base substitution T C intron_variant MALY-DE 12 122382240 122382240 single base substitution T G intron_variant MALY-DE 12 122382240 122382240 single base substitution T G upstream_gene_variant MALY-DE 12 122387247 122387247 single base substitution G T downstream_gene_variant MALY-DE 12 122387247 122387247 single base substitution G T exon_variant MALY-DE 12 122387247 122387247 single base substitution G T intron_variant MALY-DE 12 122387247 122387247 single base substitution G T upstream_gene_variant MALY-DE 12 122393795 122393795 single base substitution C G exon_variant MALY-DE 12 122393795 122393795 single base substitution C G intron_variant MALY-DE 12 122401943 122401943 single base substitution G T downstream_gene_variant MALY-DE 12 122401943 122401943 single base substitution G T intron_variant MALY-DE 12 122418183 122418183 single base substitution T G intron_variant MALY-DE 12 122418676 122418676 single base substitution T C intron_variant MALY-DE 12 122418760 122418760 single base substitution T A intron_variant MALY-DE 12 122421940 122421940 single base substitution G T intron_variant MALY-DE 12 122421941 122421941 single base substitution T C intron_variant MALY-DE 12 122425886 122425886 single base substitution A G intron_variant MALY-DE 12 122430021 122430021 single base substitution A C intron_variant MALY-DE 12 122430021 122430021 single base substitution A C upstream_gene_variant MALY-DE 12 122430081 122430081 single base substitution C G intron_variant MALY-DE 12 122430081 122430081 single base substitution C G upstream_gene_variant MALY-DE 12 122430203 122430203 single base substitution G A intron_variant MALY-DE 12 122430203 122430203 single base substitution G A upstream_gene_variant MALY-DE 12 122430363 122430363 single base substitution G A intron_variant MALY-DE 12 122430363 122430363 single base substitution G A upstream_gene_variant MALY-DE 12 122430422 122430422 single base substitution C T intron_variant MALY-DE 12 122430422 122430422 single base substitution C T upstream_gene_variant MALY-DE 12 122432921 122432921 single base substitution T C intron_variant MALY-DE 12 122432921 122432921 single base substitution T C upstream_gene_variant MALY-DE 12 122433056 122433056 single base substitution C T intron_variant MALY-DE 12 122433056 122433056 single base substitution C T upstream_gene_variant MALY-DE 12 122433816 122433816 single base substitution C T intron_variant MALY-DE 12 122433816 122433816 single base substitution C T upstream_gene_variant MALY-DE 12 122433959 122433959 single base substitution C G intron_variant MALY-DE 12 122433959 122433959 single base substitution C G upstream_gene_variant MALY-DE 12 122434534 122434534 single base substitution A G intron_variant MALY-DE 12 122434534 122434534 single base substitution A G upstream_gene_variant MALY-DE 12 122440522 122440522 single base substitution C T intron_variant MALY-DE 12 122442616 122442616 single base substitution G A downstream_gene_variant MALY-DE 12 122442846 122442846 single base substitution C T downstream_gene_variant MALY-DE 12 122443212 122443212 single base substitution T C downstream_gene_variant MALY-DE 12 122443348 122443348 single base substitution G C downstream_gene_variant MALY-DE 12 122443354 122443354 single base substitution G C downstream_gene_variant MALY-DE 12 122443418 122443418 single base substitution A C downstream_gene_variant MALY-DE 12 122443439 122443439 single base substitution A G downstream_gene_variant MALY-DE 12 122443463 122443463 single base substitution A T downstream_gene_variant MALY-DE 12 122443482 122443482 single base substitution A T downstream_gene_variant MALY-DE 12 122443837 122443837 single base substitution G A downstream_gene_variant MALY-DE 12 122444374 122444374 single base substitution A G downstream_gene_variant MALY-DE 12 122446290 122446290 single base substitution C T downstream_gene_variant MELA-AU 12 122352050 122352050 single base substitution C T upstream_gene_variant MELA-AU 12 122352235 122352235 single base substitution C T upstream_gene_variant MELA-AU 12 122353104 122353104 single base substitution A G upstream_gene_variant MELA-AU 12 122353292 122353292 single base substitution T C upstream_gene_variant MELA-AU 12 122353534 122353534 single base substitution C T upstream_gene_variant MELA-AU 12 122353957 122353957 single base substitution C T upstream_gene_variant MELA-AU 12 122354223 122354223 single base substitution C T upstream_gene_variant MELA-AU 12 122354298 122354298 single base substitution C T upstream_gene_variant MELA-AU 12 122354553 122354553 single base substitution C T upstream_gene_variant MELA-AU 12 122354770 122354771 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 122354958 122354958 single base substitution G A upstream_gene_variant MELA-AU 12 122355090 122355090 single base substitution C T upstream_gene_variant MELA-AU 12 122356849 122356849 single base substitution C T intron_variant MELA-AU 12 122356849 122356849 single base substitution C T upstream_gene_variant MELA-AU 12 122358327 122358327 single base substitution G A intron_variant MELA-AU 12 122358327 122358327 single base substitution G A upstream_gene_variant MELA-AU 12 122359412 122359412 single base substitution G A exon_variant MELA-AU 12 122359412 122359412 single base substitution G A synonymous_variant K67K 201G>A MELA-AU 12 122359542 122359542 single base substitution G A exon_variant MELA-AU 12 122359542 122359542 single base substitution G A missense_variant E111K 331G>A MELA-AU 12 122359904 122359904 single base substitution T C intron_variant MELA-AU 12 122360496 122360496 single base substitution A G intron_variant MELA-AU 12 122360507 122360507 single base substitution C T intron_variant MELA-AU 12 122360508 122360508 single base substitution C T intron_variant MELA-AU 12 122360995 122360995 single base substitution C T intron_variant MELA-AU 12 122361016 122361016 single base substitution C T intron_variant MELA-AU 12 122361017 122361017 single base substitution C T intron_variant MELA-AU 12 122361560 122361560 single base substitution C T exon_variant MELA-AU 12 122361560 122361560 single base substitution C T synonymous_variant S137S 411C>T MELA-AU 12 122362429 122362429 single base substitution C A intron_variant MELA-AU 12 122362829 122362829 single base substitution C T intron_variant MELA-AU 12 122362844 122362844 single base substitution C T intron_variant MELA-AU 12 122362860 122362860 single base substitution C T intron_variant MELA-AU 12 122363769 122363769 single base substitution G T intron_variant MELA-AU 12 122364704 122364704 single base substitution C T intron_variant MELA-AU 12 122364773 122364773 single base substitution C T intron_variant MELA-AU 12 122365552 122365552 single base substitution T C intron_variant MELA-AU 12 122365904 122365904 single base substitution G A intron_variant MELA-AU 12 122366845 122366845 single base substitution C T intron_variant MELA-AU 12 122367085 122367085 single base substitution G A intron_variant MELA-AU 12 122367406 122367406 single base substitution C T intron_variant MELA-AU 12 122367406 122367406 single base substitution C T upstream_gene_variant MELA-AU 12 122367555 122367555 single base substitution C T intron_variant MELA-AU 12 122367555 122367555 single base substitution C T upstream_gene_variant MELA-AU 12 122368226 122368226 single base substitution C T intron_variant MELA-AU 12 122368226 122368226 single base substitution C T upstream_gene_variant MELA-AU 12 122368261 122368261 single base substitution T G intron_variant MELA-AU 12 122368261 122368261 single base substitution T G upstream_gene_variant MELA-AU 12 122368397 122368397 single base substitution C T intron_variant MELA-AU 12 122368397 122368397 single base substitution C T upstream_gene_variant MELA-AU 12 122368419 122368419 single base substitution C T intron_variant MELA-AU 12 122368419 122368419 single base substitution C T upstream_gene_variant MELA-AU 12 122369807 122369807 single base substitution C T exon_variant MELA-AU 12 122369807 122369807 single base substitution C T intron_variant MELA-AU 12 122369807 122369807 single base substitution C T upstream_gene_variant MELA-AU 12 122369808 122369808 single base substitution C T exon_variant MELA-AU 12 122369808 122369808 single base substitution C T intron_variant MELA-AU 12 122369808 122369808 single base substitution C T upstream_gene_variant MELA-AU 12 122369900 122369900 single base substitution C T exon_variant MELA-AU 12 122369900 122369900 single base substitution C T intron_variant MELA-AU 12 122369900 122369900 single base substitution C T upstream_gene_variant MELA-AU 12 122369984 122369984 single base substitution A G exon_variant MELA-AU 12 122369984 122369984 single base substitution A G intron_variant MELA-AU 12 122369984 122369984 single base substitution A G upstream_gene_variant MELA-AU 12 122370284 122370284 single base substitution C T exon_variant MELA-AU 12 122370284 122370284 single base substitution C T intron_variant MELA-AU 12 122370284 122370284 single base substitution C T upstream_gene_variant MELA-AU 12 122371503 122371503 single base substitution C T exon_variant MELA-AU 12 122371503 122371503 single base substitution C T intron_variant MELA-AU 12 122371503 122371503 single base substitution C T upstream_gene_variant MELA-AU 12 122372115 122372115 single base substitution C T downstream_gene_variant MELA-AU 12 122372115 122372115 single base substitution C T intron_variant MELA-AU 12 122372115 122372115 single base substitution C T upstream_gene_variant MELA-AU 12 122372284 122372284 single base substitution C T downstream_gene_variant MELA-AU 12 122372284 122372284 single base substitution C T intron_variant MELA-AU 12 122372353 122372353 single base substitution C T downstream_gene_variant MELA-AU 12 122372353 122372353 single base substitution C T intron_variant MELA-AU 12 122372609 122372609 single base substitution C T downstream_gene_variant MELA-AU 12 122372609 122372609 single base substitution C T intron_variant MELA-AU 12 122373071 122373071 single base substitution C T downstream_gene_variant MELA-AU 12 122373071 122373071 single base substitution C T intron_variant MELA-AU 12 122373075 122373075 single base substitution C T downstream_gene_variant MELA-AU 12 122373075 122373075 single base substitution C T intron_variant MELA-AU 12 122373120 122373120 single base substitution C T downstream_gene_variant MELA-AU 12 122373120 122373120 single base substitution C T intron_variant MELA-AU 12 122373275 122373275 single base substitution C T downstream_gene_variant MELA-AU 12 122373275 122373275 single base substitution C T intron_variant MELA-AU 12 122373686 122373686 single base substitution C T downstream_gene_variant MELA-AU 12 122373686 122373686 single base substitution C T intron_variant MELA-AU 12 122373707 122373707 single base substitution C T downstream_gene_variant MELA-AU 12 122373707 122373707 single base substitution C T intron_variant MELA-AU 12 122373725 122373725 single base substitution T A downstream_gene_variant MELA-AU 12 122373725 122373725 single base substitution T A intron_variant MELA-AU 12 122374307 122374307 single base substitution C T downstream_gene_variant MELA-AU 12 122374307 122374307 single base substitution C T intron_variant MELA-AU 12 122375224 122375224 single base substitution C T downstream_gene_variant MELA-AU 12 122375224 122375224 single base substitution C T intron_variant MELA-AU 12 122375546 122375546 single base substitution G A downstream_gene_variant MELA-AU 12 122375546 122375546 single base substitution G A intron_variant MELA-AU 12 122375820 122375820 single base substitution C T downstream_gene_variant MELA-AU 12 122375820 122375820 single base substitution C T intron_variant MELA-AU 12 122376636 122376636 single base substitution C T intron_variant MELA-AU 12 122376770 122376771 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 122377201 122377201 single base substitution C T intron_variant MELA-AU 12 122377446 122377446 single base substitution T C intron_variant MELA-AU 12 122377961 122377961 single base substitution C T intron_variant MELA-AU 12 122378537 122378537 single base substitution C T intron_variant MELA-AU 12 122378713 122378713 single base substitution C T intron_variant MELA-AU 12 122378980 122378980 single base substitution C T intron_variant MELA-AU 12 122379124 122379124 single base substitution G A intron_variant MELA-AU 12 122379426 122379426 single base substitution G A intron_variant MELA-AU 12 122380855 122380855 single base substitution G A exon_variant MELA-AU 12 122380855 122380855 single base substitution G A missense_variant E389K 1165G>A MELA-AU 12 122380855 122380855 single base substitution G A upstream_gene_variant MELA-AU 12 122380998 122380998 single base substitution C T intron_variant MELA-AU 12 122380998 122380998 single base substitution C T upstream_gene_variant MELA-AU 12 122381449 122381449 single base substitution C G intron_variant MELA-AU 12 122381449 122381449 single base substitution C G upstream_gene_variant MELA-AU 12 122381451 122381451 single base substitution C T intron_variant MELA-AU 12 122381451 122381451 single base substitution C T upstream_gene_variant MELA-AU 12 122381649 122381649 single base substitution C T intron_variant MELA-AU 12 122381649 122381649 single base substitution C T upstream_gene_variant MELA-AU 12 122382251 122382251 single base substitution C T intron_variant MELA-AU 12 122382251 122382251 single base substitution C T upstream_gene_variant MELA-AU 12 122382525 122382525 single base substitution G A intron_variant MELA-AU 12 122382525 122382525 single base substitution G A upstream_gene_variant MELA-AU 12 122383037 122383037 single base substitution C T intron_variant MELA-AU 12 122383037 122383037 single base substitution C T upstream_gene_variant MELA-AU 12 122383450 122383450 single base substitution C T intron_variant MELA-AU 12 122383450 122383450 single base substitution C T upstream_gene_variant MELA-AU 12 122383550 122383550 single base substitution G A intron_variant MELA-AU 12 122383550 122383550 single base substitution G A upstream_gene_variant MELA-AU 12 122383904 122383904 single base substitution C T intron_variant MELA-AU 12 122383904 122383904 single base substitution C T upstream_gene_variant MELA-AU 12 122384038 122384038 single base substitution C T intron_variant MELA-AU 12 122384038 122384038 single base substitution C T upstream_gene_variant MELA-AU 12 122384060 122384060 single base substitution C T intron_variant MELA-AU 12 122384060 122384060 single base substitution C T upstream_gene_variant MELA-AU 12 122384143 122384143 single base substitution C T intron_variant MELA-AU 12 122384143 122384143 single base substitution C T upstream_gene_variant MELA-AU 12 122384297 122384297 single base substitution C T intron_variant MELA-AU 12 122384297 122384297 single base substitution C T upstream_gene_variant MELA-AU 12 122384441 122384441 single base substitution C T intron_variant MELA-AU 12 122384441 122384441 single base substitution C T upstream_gene_variant MELA-AU 12 122384514 122384514 single base substitution C T intron_variant MELA-AU 12 122384514 122384514 single base substitution C T upstream_gene_variant MELA-AU 12 122384704 122384704 single base substitution C T intron_variant MELA-AU 12 122384704 122384704 single base substitution C T upstream_gene_variant MELA-AU 12 122385101 122385101 single base substitution C T intron_variant MELA-AU 12 122385101 122385101 single base substitution C T upstream_gene_variant MELA-AU 12 122385669 122385669 single base substitution C T exon_variant MELA-AU 12 122385669 122385669 single base substitution C T intron_variant MELA-AU 12 122385669 122385669 single base substitution C T upstream_gene_variant MELA-AU 12 122386248 122386248 single base substitution T G exon_variant MELA-AU 12 122386248 122386248 single base substitution T G intron_variant MELA-AU 12 122386248 122386248 single base substitution T G upstream_gene_variant MELA-AU 12 122386332 122386332 single base substitution G A exon_variant MELA-AU 12 122386332 122386332 single base substitution G A intron_variant MELA-AU 12 122386332 122386332 single base substitution G A upstream_gene_variant MELA-AU 12 122386949 122386949 single base substitution G A exon_variant MELA-AU 12 122386949 122386949 single base substitution G A synonymous_variant R417R 1251G>A MELA-AU 12 122386949 122386949 single base substitution G A upstream_gene_variant MELA-AU 12 122387317 122387317 single base substitution C T downstream_gene_variant MELA-AU 12 122387317 122387317 single base substitution C T exon_variant MELA-AU 12 122387317 122387317 single base substitution C T intron_variant MELA-AU 12 122387317 122387317 single base substitution C T upstream_gene_variant MELA-AU 12 122387784 122387784 single base substitution G A downstream_gene_variant MELA-AU 12 122387784 122387784 single base substitution G A exon_variant MELA-AU 12 122387784 122387784 single base substitution G A intron_variant MELA-AU 12 122387784 122387784 single base substitution G A upstream_gene_variant MELA-AU 12 122388695 122388695 single base substitution C T downstream_gene_variant MELA-AU 12 122388695 122388695 single base substitution C T exon_variant MELA-AU 12 122388695 122388695 single base substitution C T intron_variant MELA-AU 12 122388695 122388695 single base substitution C T upstream_gene_variant MELA-AU 12 122389477 122389477 single base substitution G A downstream_gene_variant MELA-AU 12 122389477 122389477 single base substitution G A intron_variant MELA-AU 12 122389477 122389477 single base substitution G A upstream_gene_variant MELA-AU 12 122389578 122389578 single base substitution C T downstream_gene_variant MELA-AU 12 122389578 122389578 single base substitution C T intron_variant MELA-AU 12 122389578 122389578 single base substitution C T upstream_gene_variant MELA-AU 12 122389691 122389691 single base substitution C T downstream_gene_variant MELA-AU 12 122389691 122389691 single base substitution C T intron_variant MELA-AU 12 122389691 122389691 single base substitution C T upstream_gene_variant MELA-AU 12 122390566 122390566 single base substitution C T downstream_gene_variant MELA-AU 12 122390566 122390566 single base substitution C T intron_variant MELA-AU 12 122390566 122390566 single base substitution C T upstream_gene_variant MELA-AU 12 122390581 122390581 single base substitution C T downstream_gene_variant MELA-AU 12 122390581 122390581 single base substitution C T intron_variant MELA-AU 12 122390581 122390581 single base substitution C T upstream_gene_variant MELA-AU 12 122390606 122390606 single base substitution C T downstream_gene_variant MELA-AU 12 122390606 122390606 single base substitution C T exon_variant MELA-AU 12 122390606 122390606 single base substitution C T intron_variant MELA-AU 12 122391502 122391502 single base substitution C T downstream_gene_variant MELA-AU 12 122391502 122391502 single base substitution C T exon_variant MELA-AU 12 122391502 122391502 single base substitution C T intron_variant MELA-AU 12 122391915 122391915 single base substitution C T downstream_gene_variant MELA-AU 12 122391915 122391915 single base substitution C T exon_variant MELA-AU 12 122391915 122391915 single base substitution C T intron_variant MELA-AU 12 122391936 122391936 single base substitution T A downstream_gene_variant MELA-AU 12 122391936 122391936 single base substitution T A exon_variant MELA-AU 12 122391936 122391936 single base substitution T A intron_variant MELA-AU 12 122391960 122391960 single base substitution C T downstream_gene_variant MELA-AU 12 122391960 122391960 single base substitution C T exon_variant MELA-AU 12 122391960 122391960 single base substitution C T intron_variant MELA-AU 12 122392091 122392091 single base substitution C T downstream_gene_variant MELA-AU 12 122392091 122392091 single base substitution C T exon_variant MELA-AU 12 122392091 122392091 single base substitution C T intron_variant MELA-AU 12 122392091 122392091 single base substitution C T synonymous_variant L462L 1386C>T MELA-AU 12 122392170 122392171 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 122392170 122392171 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 122392170 122392171 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P489F 1465CC>TT MELA-AU 12 122392656 122392656 single base substitution C T intron_variant MELA-AU 12 122392751 122392751 single base substitution C T intron_variant MELA-AU 12 122393939 122393939 single base substitution G A intron_variant MELA-AU 12 122394197 122394197 single base substitution T A intron_variant MELA-AU 12 122394203 122394203 single base substitution G T intron_variant MELA-AU 12 122394964 122394964 single base substitution T C intron_variant MELA-AU 12 122394964 122394964 single base substitution T C upstream_gene_variant MELA-AU 12 122395229 122395229 single base substitution C T intron_variant MELA-AU 12 122395229 122395229 single base substitution C T upstream_gene_variant MELA-AU 12 122395422 122395422 single base substitution A G intron_variant MELA-AU 12 122395422 122395422 single base substitution A G upstream_gene_variant MELA-AU 12 122395436 122395437 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 12 122395436 122395437 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 12 122395647 122395647 single base substitution T C intron_variant MELA-AU 12 122395647 122395647 single base substitution T C upstream_gene_variant MELA-AU 12 122395692 122395692 single base substitution C T intron_variant MELA-AU 12 122395692 122395692 single base substitution C T upstream_gene_variant MELA-AU 12 122395821 122395821 single base substitution G A intron_variant MELA-AU 12 122395821 122395821 single base substitution G A upstream_gene_variant MELA-AU 12 122395840 122395840 single base substitution T C intron_variant MELA-AU 12 122395840 122395840 single base substitution T C upstream_gene_variant MELA-AU 12 122395847 122395847 single base substitution C T intron_variant MELA-AU 12 122395847 122395847 single base substitution C T upstream_gene_variant MELA-AU 12 122396004 122396004 single base substitution C T intron_variant MELA-AU 12 122396004 122396004 single base substitution C T upstream_gene_variant MELA-AU 12 122396318 122396318 single base substitution G A exon_variant MELA-AU 12 122396318 122396318 single base substitution G A missense_variant G624E 1871G>A MELA-AU 12 122396318 122396318 single base substitution G A upstream_gene_variant MELA-AU 12 122396373 122396373 single base substitution C T exon_variant MELA-AU 12 122396373 122396373 single base substitution C T synonymous_variant F642F 1926C>T MELA-AU 12 122396373 122396373 single base substitution C T upstream_gene_variant MELA-AU 12 122396460 122396460 single base substitution C T intron_variant MELA-AU 12 122396460 122396460 single base substitution C T upstream_gene_variant MELA-AU 12 122396861 122396861 single base substitution G A exon_variant MELA-AU 12 122396861 122396861 single base substitution G A missense_variant G665E 1994G>A MELA-AU 12 122396861 122396861 single base substitution G A upstream_gene_variant MELA-AU 12 122397238 122397238 single base substitution C T downstream_gene_variant MELA-AU 12 122397238 122397238 single base substitution C T exon_variant MELA-AU 12 122397238 122397238 single base substitution C T intron_variant MELA-AU 12 122397238 122397238 single base substitution C T upstream_gene_variant MELA-AU 12 122397366 122397366 single base substitution C T downstream_gene_variant MELA-AU 12 122397366 122397366 single base substitution C T exon_variant MELA-AU 12 122397366 122397366 single base substitution C T intron_variant MELA-AU 12 122397366 122397366 single base substitution C T upstream_gene_variant MELA-AU 12 122397633 122397633 single base substitution G A downstream_gene_variant MELA-AU 12 122397633 122397633 single base substitution G A exon_variant MELA-AU 12 122397633 122397633 single base substitution G A intron_variant MELA-AU 12 122397633 122397633 single base substitution G A upstream_gene_variant MELA-AU 12 122397839 122397839 single base substitution G A downstream_gene_variant MELA-AU 12 122397839 122397839 single base substitution G A intron_variant MELA-AU 12 122397839 122397839 single base substitution G A upstream_gene_variant MELA-AU 12 122398488 122398488 single base substitution C T downstream_gene_variant MELA-AU 12 122398488 122398488 single base substitution C T splice_region_variant MELA-AU 12 122398488 122398488 single base substitution C T upstream_gene_variant MELA-AU 12 122398591 122398591 single base substitution G A downstream_gene_variant MELA-AU 12 122398591 122398591 single base substitution G A missense_variant R745Q 2234G>A MELA-AU 12 122398591 122398591 single base substitution G A upstream_gene_variant MELA-AU 12 122398693 122398693 single base substitution T A downstream_gene_variant MELA-AU 12 122398693 122398693 single base substitution T A intron_variant MELA-AU 12 122398693 122398693 single base substitution T A upstream_gene_variant MELA-AU 12 122398887 122398887 single base substitution C G downstream_gene_variant MELA-AU 12 122398887 122398887 single base substitution C G intron_variant MELA-AU 12 122398887 122398887 single base substitution C G upstream_gene_variant MELA-AU 12 122398894 122398894 single base substitution T C downstream_gene_variant MELA-AU 12 122398894 122398894 single base substitution T C intron_variant MELA-AU 12 122398894 122398894 single base substitution T C upstream_gene_variant MELA-AU 12 122398942 122398942 single base substitution C T downstream_gene_variant MELA-AU 12 122398942 122398942 single base substitution C T intron_variant MELA-AU 12 122398942 122398942 single base substitution C T upstream_gene_variant MELA-AU 12 122398963 122398963 single base substitution G A downstream_gene_variant MELA-AU 12 122398963 122398963 single base substitution G A intron_variant MELA-AU 12 122398963 122398963 single base substitution G A upstream_gene_variant MELA-AU 12 122398978 122398978 single base substitution C T downstream_gene_variant MELA-AU 12 122398978 122398978 single base substitution C T intron_variant MELA-AU 12 122398978 122398978 single base substitution C T upstream_gene_variant MELA-AU 12 122399144 122399145 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 122399144 122399145 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 122399144 122399145 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 122399517 122399517 single base substitution T A downstream_gene_variant MELA-AU 12 122399517 122399517 single base substitution T A intron_variant MELA-AU 12 122399517 122399517 single base substitution T A upstream_gene_variant MELA-AU 12 122399618 122399618 single base substitution C T downstream_gene_variant MELA-AU 12 122399618 122399618 single base substitution C T intron_variant MELA-AU 12 122399618 122399618 single base substitution C T upstream_gene_variant MELA-AU 12 122399681 122399681 single base substitution C T downstream_gene_variant MELA-AU 12 122399681 122399681 single base substitution C T intron_variant MELA-AU 12 122399681 122399681 single base substitution C T upstream_gene_variant MELA-AU 12 122399824 122399824 single base substitution C A downstream_gene_variant MELA-AU 12 122399824 122399824 single base substitution C A intron_variant MELA-AU 12 122399824 122399824 single base substitution C A upstream_gene_variant MELA-AU 12 122400260 122400260 single base substitution G A downstream_gene_variant MELA-AU 12 122400260 122400260 single base substitution G A intron_variant MELA-AU 12 122400466 122400466 single base substitution C T downstream_gene_variant MELA-AU 12 122400466 122400466 single base substitution C T intron_variant MELA-AU 12 122400505 122400505 single base substitution C T downstream_gene_variant MELA-AU 12 122400505 122400505 single base substitution C T intron_variant MELA-AU 12 122400635 122400635 single base substitution G A downstream_gene_variant MELA-AU 12 122400635 122400635 single base substitution G A intron_variant MELA-AU 12 122400787 122400787 single base substitution G A downstream_gene_variant MELA-AU 12 122400787 122400787 single base substitution G A intron_variant MELA-AU 12 122400926 122400926 single base substitution C T downstream_gene_variant MELA-AU 12 122400926 122400926 single base substitution C T intron_variant MELA-AU 12 122400982 122400982 single base substitution G A downstream_gene_variant MELA-AU 12 122400982 122400982 single base substitution G A intron_variant MELA-AU 12 122401052 122401052 single base substitution C T downstream_gene_variant MELA-AU 12 122401052 122401052 single base substitution C T intron_variant MELA-AU 12 122401125 122401125 single base substitution C T downstream_gene_variant MELA-AU 12 122401125 122401125 single base substitution C T intron_variant MELA-AU 12 122401238 122401238 single base substitution G A downstream_gene_variant MELA-AU 12 122401238 122401238 single base substitution G A intron_variant MELA-AU 12 122401585 122401585 single base substitution G A downstream_gene_variant MELA-AU 12 122401585 122401585 single base substitution G A intron_variant MELA-AU 12 122401787 122401787 single base substitution C T downstream_gene_variant MELA-AU 12 122401787 122401787 single base substitution C T intron_variant MELA-AU 12 122401810 122401810 single base substitution G A downstream_gene_variant MELA-AU 12 122401810 122401810 single base substitution G A intron_variant MELA-AU 12 122401833 122401833 single base substitution G T downstream_gene_variant MELA-AU 12 122401833 122401833 single base substitution G T intron_variant MELA-AU 12 122402159 122402159 single base substitution C T downstream_gene_variant MELA-AU 12 122402159 122402159 single base substitution C T intron_variant MELA-AU 12 122402333 122402333 single base substitution G A downstream_gene_variant MELA-AU 12 122402333 122402333 single base substitution G A intron_variant MELA-AU 12 122402554 122402554 single base substitution C T downstream_gene_variant MELA-AU 12 122402554 122402554 single base substitution C T intron_variant MELA-AU 12 122402688 122402688 single base substitution C T intron_variant MELA-AU 12 122403656 122403656 single base substitution T A intron_variant MELA-AU 12 122403756 122403756 single base substitution C T intron_variant MELA-AU 12 122404897 122404897 single base substitution T A exon_variant MELA-AU 12 122404897 122404897 single base substitution T A synonymous_variant I843I 2529T>A MELA-AU 12 122404965 122404965 single base substitution A C exon_variant MELA-AU 12 122404965 122404965 single base substitution A C missense_variant N866T 2597A>C MELA-AU 12 122405193 122405193 single base substitution G A intron_variant MELA-AU 12 122405511 122405511 single base substitution G A intron_variant MELA-AU 12 122405799 122405799 single base substitution C T intron_variant MELA-AU 12 122405931 122405931 single base substitution C T exon_variant MELA-AU 12 122405931 122405931 single base substitution C T missense_variant P876L 2627C>T MELA-AU 12 122406044 122406044 single base substitution C T exon_variant MELA-AU 12 122406044 122406044 single base substitution C T missense_variant R914C 2740C>T MELA-AU 12 122406450 122406450 single base substitution C T intron_variant MELA-AU 12 122406829 122406829 single base substitution G A intron_variant MELA-AU 12 122406870 122406870 single base substitution C T intron_variant MELA-AU 12 122407018 122407018 single base substitution C T intron_variant MELA-AU 12 122407387 122407387 single base substitution C T intron_variant MELA-AU 12 122408106 122408106 single base substitution C T downstream_gene_variant MELA-AU 12 122408106 122408106 single base substitution C T intron_variant MELA-AU 12 122408495 122408495 single base substitution G A downstream_gene_variant MELA-AU 12 122408495 122408495 single base substitution G A intron_variant MELA-AU 12 122408504 122408504 single base substitution G A downstream_gene_variant MELA-AU 12 122408504 122408504 single base substitution G A intron_variant MELA-AU 12 122408718 122408718 single base substitution C T downstream_gene_variant MELA-AU 12 122408718 122408718 single base substitution C T intron_variant MELA-AU 12 122409006 122409006 single base substitution C T downstream_gene_variant MELA-AU 12 122409006 122409006 single base substitution C T intron_variant MELA-AU 12 122409053 122409053 single base substitution C T downstream_gene_variant MELA-AU 12 122409053 122409053 single base substitution C T intron_variant MELA-AU 12 122409382 122409382 single base substitution C T downstream_gene_variant MELA-AU 12 122409382 122409382 single base substitution C T intron_variant MELA-AU 12 122409637 122409637 single base substitution A T 3_prime_UTR_variant MELA-AU 12 122409637 122409637 single base substitution A T downstream_gene_variant MELA-AU 12 122409637 122409637 single base substitution A T intron_variant MELA-AU 12 122409785 122409785 single base substitution C T 3_prime_UTR_variant MELA-AU 12 122409785 122409785 single base substitution C T downstream_gene_variant MELA-AU 12 122409785 122409785 single base substitution C T intron_variant MELA-AU 12 122410018 122410018 single base substitution G A downstream_gene_variant MELA-AU 12 122410018 122410018 single base substitution G A intron_variant MELA-AU 12 122410139 122410139 single base substitution G A downstream_gene_variant MELA-AU 12 122410139 122410139 single base substitution G A intron_variant MELA-AU 12 122410233 122410233 single base substitution A T downstream_gene_variant MELA-AU 12 122410233 122410233 single base substitution A T intron_variant MELA-AU 12 122411227 122411227 single base substitution G A downstream_gene_variant MELA-AU 12 122411227 122411227 single base substitution G A intron_variant MELA-AU 12 122411540 122411540 single base substitution C T downstream_gene_variant MELA-AU 12 122411540 122411540 single base substitution C T intron_variant MELA-AU 12 122411588 122411588 single base substitution C T downstream_gene_variant MELA-AU 12 122411588 122411588 single base substitution C T intron_variant MELA-AU 12 122412288 122412288 single base substitution T C downstream_gene_variant MELA-AU 12 122412288 122412288 single base substitution T C intron_variant MELA-AU 12 122412454 122412454 single base substitution C T downstream_gene_variant MELA-AU 12 122412454 122412454 single base substitution C T intron_variant MELA-AU 12 122412560 122412560 single base substitution C G downstream_gene_variant MELA-AU 12 122412560 122412560 single base substitution C G intron_variant MELA-AU 12 122412867 122412867 single base substitution C T downstream_gene_variant MELA-AU 12 122412867 122412867 single base substitution C T intron_variant MELA-AU 12 122412926 122412926 single base substitution C T downstream_gene_variant MELA-AU 12 122412926 122412926 single base substitution C T intron_variant MELA-AU 12 122413448 122413448 single base substitution G A downstream_gene_variant MELA-AU 12 122413448 122413448 single base substitution G A missense_variant E955K 2863G>A MELA-AU 12 122413853 122413853 single base substitution G A downstream_gene_variant MELA-AU 12 122413853 122413853 single base substitution G A intron_variant MELA-AU 12 122414018 122414018 single base substitution G A downstream_gene_variant MELA-AU 12 122414018 122414018 single base substitution G A intron_variant MELA-AU 12 122414224 122414224 single base substitution G A downstream_gene_variant MELA-AU 12 122414224 122414224 single base substitution G A intron_variant MELA-AU 12 122414237 122414238 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 122414237 122414238 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 122414266 122414266 single base substitution G A downstream_gene_variant MELA-AU 12 122414266 122414266 single base substitution G A intron_variant MELA-AU 12 122414313 122414313 single base substitution C T downstream_gene_variant MELA-AU 12 122414313 122414313 single base substitution C T intron_variant MELA-AU 12 122414366 122414366 single base substitution C T downstream_gene_variant MELA-AU 12 122414366 122414366 single base substitution C T intron_variant MELA-AU 12 122414420 122414420 single base substitution C T downstream_gene_variant MELA-AU 12 122414420 122414420 single base substitution C T intron_variant MELA-AU 12 122414613 122414613 single base substitution G A downstream_gene_variant MELA-AU 12 122414613 122414613 single base substitution G A intron_variant MELA-AU 12 122414636 122414636 single base substitution G A downstream_gene_variant MELA-AU 12 122414636 122414636 single base substitution G A intron_variant MELA-AU 12 122414659 122414659 single base substitution C T downstream_gene_variant MELA-AU 12 122414659 122414659 single base substitution C T intron_variant MELA-AU 12 122415156 122415156 single base substitution G A intron_variant MELA-AU 12 122415542 122415542 single base substitution G A intron_variant MELA-AU 12 122415657 122415657 single base substitution C T intron_variant MELA-AU 12 122415994 122415994 single base substitution C T intron_variant MELA-AU 12 122416276 122416276 single base substitution G A intron_variant MELA-AU 12 122417049 122417049 single base substitution C T intron_variant MELA-AU 12 122417080 122417080 single base substitution C T intron_variant MELA-AU 12 122417131 122417131 single base substitution C T intron_variant MELA-AU 12 122417931 122417931 single base substitution C T intron_variant MELA-AU 12 122418790 122418790 single base substitution C T intron_variant MELA-AU 12 122418987 122418987 single base substitution C T intron_variant MELA-AU 12 122419015 122419015 single base substitution C T intron_variant MELA-AU 12 122419932 122419932 single base substitution C T intron_variant MELA-AU 12 122420805 122420805 single base substitution C T intron_variant MELA-AU 12 122421219 122421219 single base substitution G A intron_variant MELA-AU 12 122421399 122421399 single base substitution C T intron_variant MELA-AU 12 122421580 122421580 single base substitution G A intron_variant MELA-AU 12 122421903 122421903 single base substitution G A intron_variant MELA-AU 12 122422150 122422151 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 122422439 122422439 single base substitution C T intron_variant MELA-AU 12 122422623 122422623 single base substitution C T intron_variant MELA-AU 12 122422663 122422663 single base substitution G A intron_variant MELA-AU 12 122423322 122423322 single base substitution C T intron_variant MELA-AU 12 122423674 122423674 single base substitution G A intron_variant MELA-AU 12 122423728 122423728 single base substitution C T intron_variant MELA-AU 12 122424462 122424462 single base substitution C T intron_variant MELA-AU 12 122424696 122424696 single base substitution C T intron_variant MELA-AU 12 122424935 122424935 single base substitution C T intron_variant MELA-AU 12 122424942 122424942 single base substitution G A intron_variant MELA-AU 12 122425191 122425191 single base substitution C T intron_variant MELA-AU 12 122425226 122425226 single base substitution C T intron_variant MELA-AU 12 122425268 122425268 single base substitution C T intron_variant MELA-AU 12 122425413 122425413 single base substitution G A intron_variant MELA-AU 12 122425418 122425418 single base substitution C T intron_variant MELA-AU 12 122425423 122425423 single base substitution C T intron_variant MELA-AU 12 122425455 122425455 single base substitution T C intron_variant MELA-AU 12 122425547 122425547 single base substitution G A intron_variant MELA-AU 12 122425667 122425667 single base substitution C T intron_variant MELA-AU 12 122425831 122425831 single base substitution C T intron_variant MELA-AU 12 122426883 122426883 single base substitution C T intron_variant MELA-AU 12 122427041 122427041 single base substitution C T intron_variant MELA-AU 12 122427508 122427508 single base substitution G A intron_variant MELA-AU 12 122427626 122427626 single base substitution G A intron_variant MELA-AU 12 122427752 122427752 single base substitution C T intron_variant MELA-AU 12 122427888 122427888 single base substitution C T intron_variant MELA-AU 12 122428110 122428110 single base substitution C T intron_variant MELA-AU 12 122428282 122428282 single base substitution C T intron_variant MELA-AU 12 122428331 122428331 single base substitution C T intron_variant MELA-AU 12 122428441 122428441 single base substitution C T intron_variant MELA-AU 12 122428443 122428443 single base substitution G A intron_variant MELA-AU 12 122428873 122428873 single base substitution C T intron_variant MELA-AU 12 122429464 122429464 single base substitution C T intron_variant MELA-AU 12 122429609 122429609 single base substitution C T intron_variant MELA-AU 12 122430213 122430213 single base substitution G A intron_variant MELA-AU 12 122430213 122430213 single base substitution G A upstream_gene_variant MELA-AU 12 122430248 122430248 single base substitution C T intron_variant MELA-AU 12 122430248 122430248 single base substitution C T upstream_gene_variant MELA-AU 12 122430399 122430399 single base substitution T C intron_variant MELA-AU 12 122430399 122430399 single base substitution T C upstream_gene_variant MELA-AU 12 122430433 122430433 single base substitution C T intron_variant MELA-AU 12 122430433 122430433 single base substitution C T upstream_gene_variant MELA-AU 12 122430733 122430733 single base substitution C T intron_variant MELA-AU 12 122430733 122430733 single base substitution C T upstream_gene_variant MELA-AU 12 122431605 122431605 single base substitution C T intron_variant MELA-AU 12 122431605 122431605 single base substitution C T upstream_gene_variant MELA-AU 12 122433009 122433009 single base substitution C T intron_variant MELA-AU 12 122433009 122433009 single base substitution C T upstream_gene_variant MELA-AU 12 122433688 122433688 single base substitution G C intron_variant MELA-AU 12 122433688 122433688 single base substitution G C upstream_gene_variant MELA-AU 12 122434560 122434560 single base substitution G A intron_variant MELA-AU 12 122434560 122434560 single base substitution G A upstream_gene_variant MELA-AU 12 122435214 122435214 single base substitution C T exon_variant MELA-AU 12 122435214 122435214 single base substitution C T intron_variant MELA-AU 12 122435214 122435214 single base substitution C T upstream_gene_variant MELA-AU 12 122435578 122435578 single base substitution C T exon_variant MELA-AU 12 122435578 122435578 single base substitution C T intron_variant MELA-AU 12 122435578 122435578 single base substitution C T upstream_gene_variant MELA-AU 12 122435853 122435853 single base substitution C T exon_variant MELA-AU 12 122435853 122435853 single base substitution C T intron_variant MELA-AU 12 122435853 122435853 single base substitution C T upstream_gene_variant MELA-AU 12 122436402 122436402 single base substitution T C exon_variant MELA-AU 12 122436402 122436402 single base substitution T C intron_variant MELA-AU 12 122436402 122436402 single base substitution T C upstream_gene_variant MELA-AU 12 122436662 122436662 single base substitution C T exon_variant MELA-AU 12 122436662 122436662 single base substitution C T intron_variant MELA-AU 12 122436662 122436662 single base substitution C T upstream_gene_variant MELA-AU 12 122436680 122436680 single base substitution C A exon_variant MELA-AU 12 122436680 122436680 single base substitution C A intron_variant MELA-AU 12 122436680 122436680 single base substitution C A upstream_gene_variant MELA-AU 12 122436969 122436969 single base substitution C T exon_variant MELA-AU 12 122436969 122436969 single base substitution C T intron_variant MELA-AU 12 122436969 122436969 single base substitution C T upstream_gene_variant MELA-AU 12 122437140 122437140 single base substitution C T exon_variant MELA-AU 12 122437140 122437140 single base substitution C T intron_variant MELA-AU 12 122437140 122437140 single base substitution C T upstream_gene_variant MELA-AU 12 122437295 122437295 single base substitution C T exon_variant MELA-AU 12 122437295 122437295 single base substitution C T intron_variant MELA-AU 12 122437295 122437295 single base substitution C T upstream_gene_variant MELA-AU 12 122437345 122437345 single base substitution G A exon_variant MELA-AU 12 122437345 122437345 single base substitution G A intron_variant MELA-AU 12 122437345 122437345 single base substitution G A upstream_gene_variant MELA-AU 12 122437606 122437606 single base substitution C T exon_variant MELA-AU 12 122437606 122437606 single base substitution C T intron_variant MELA-AU 12 122437606 122437606 single base substitution C T upstream_gene_variant MELA-AU 12 122437616 122437616 single base substitution C T exon_variant MELA-AU 12 122437616 122437616 single base substitution C T splice_region_variant MELA-AU 12 122437616 122437616 single base substitution C T upstream_gene_variant MELA-AU 12 122437928 122437929 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 122437928 122437929 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 122439182 122439182 single base substitution G A intron_variant MELA-AU 12 122439182 122439182 single base substitution G A upstream_gene_variant MELA-AU 12 122439449 122439449 single base substitution G A exon_variant MELA-AU 12 122439449 122439449 single base substitution G A synonymous_variant L1094L 3282G>A MELA-AU 12 122439449 122439449 single base substitution G A upstream_gene_variant MELA-AU 12 122439730 122439730 single base substitution C T exon_variant MELA-AU 12 122439730 122439730 single base substitution C T intron_variant MELA-AU 12 122439835 122439835 single base substitution G A intron_variant MELA-AU 12 122440155 122440155 single base substitution G A intron_variant MELA-AU 12 122440775 122440775 single base substitution C T intron_variant MELA-AU 12 122440782 122440782 single base substitution C T intron_variant MELA-AU 12 122441089 122441089 single base substitution G A intron_variant MELA-AU 12 122441176 122441176 single base substitution C T intron_variant MELA-AU 12 122441908 122441908 single base substitution G A downstream_gene_variant MELA-AU 12 122441965 122441965 single base substitution G A downstream_gene_variant MELA-AU 12 122442072 122442072 single base substitution C T downstream_gene_variant MELA-AU 12 122442119 122442119 single base substitution C T downstream_gene_variant MELA-AU 12 122442351 122442351 single base substitution C T downstream_gene_variant MELA-AU 12 122442469 122442469 single base substitution C T downstream_gene_variant MELA-AU 12 122442587 122442588 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 122442786 122442786 single base substitution G A downstream_gene_variant MELA-AU 12 122443021 122443021 single base substitution G T downstream_gene_variant MELA-AU 12 122443415 122443415 single base substitution G A downstream_gene_variant MELA-AU 12 122443430 122443430 single base substitution G A downstream_gene_variant MELA-AU 12 122443491 122443492 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 122443956 122443956 single base substitution G A downstream_gene_variant MELA-AU 12 122444020 122444020 single base substitution G A downstream_gene_variant MELA-AU 12 122444036 122444036 single base substitution G A downstream_gene_variant MELA-AU 12 122444138 122444138 single base substitution C T downstream_gene_variant MELA-AU 12 122444234 122444234 single base substitution G A downstream_gene_variant MELA-AU 12 122444488 122444488 single base substitution C T downstream_gene_variant MELA-AU 12 122445343 122445343 single base substitution G A downstream_gene_variant MELA-AU 12 122445397 122445397 single base substitution C T downstream_gene_variant MELA-AU 12 122445585 122445585 single base substitution G A downstream_gene_variant MELA-AU 12 122445835 122445835 single base substitution C T downstream_gene_variant MELA-AU 12 122446194 122446194 single base substitution C T downstream_gene_variant MELA-AU 12 122446693 122446693 single base substitution C T downstream_gene_variant ORCA-IN 12 122352474 122352474 single base substitution C G upstream_gene_variant ORCA-IN 12 122358094 122358094 insertion of <=200bp - G intron_variant ORCA-IN 12 122358094 122358094 insertion of <=200bp - G upstream_gene_variant ORCA-IN 12 122362672 122362672 single base substitution G C intron_variant ORCA-IN 12 122380261 122380261 single base substitution T G intron_variant ORCA-IN 12 122405525 122405525 single base substitution A T intron_variant ORCA-IN 12 122418224 122418224 single base substitution C T intron_variant ORCA-IN 12 122422504 122422504 single base substitution C T intron_variant ORCA-IN 12 122425621 122425621 deletion of <=200bp C - intron_variant ORCA-IN 12 122439324 122439324 single base substitution C T intron_variant ORCA-IN 12 122439324 122439324 single base substitution C T upstream_gene_variant OV-AU 12 122351559 122351559 single base substitution G T upstream_gene_variant OV-AU 12 122364945 122364945 single base substitution A C intron_variant OV-AU 12 122364948 122364948 single base substitution C G intron_variant OV-AU 12 122377851 122377851 single base substitution G A intron_variant OV-AU 12 122380389 122380389 single base substitution G A intron_variant OV-AU 12 122384622 122384622 single base substitution G A intron_variant OV-AU 12 122384622 122384622 single base substitution G A upstream_gene_variant OV-AU 12 122385914 122385914 single base substitution T A exon_variant OV-AU 12 122385914 122385914 single base substitution T A intron_variant OV-AU 12 122385914 122385914 single base substitution T A upstream_gene_variant OV-AU 12 122386451 122386451 single base substitution C A exon_variant OV-AU 12 122386451 122386451 single base substitution C A intron_variant OV-AU 12 122386451 122386451 single base substitution C A upstream_gene_variant OV-AU 12 122389496 122389496 single base substitution C G downstream_gene_variant OV-AU 12 122389496 122389496 single base substitution C G intron_variant OV-AU 12 122389496 122389496 single base substitution C G upstream_gene_variant OV-AU 12 122392478 122392478 single base substitution G A intron_variant OV-AU 12 122394194 122394194 single base substitution T A intron_variant OV-AU 12 122404421 122404421 single base substitution C A intron_variant OV-AU 12 122408538 122408538 single base substitution C A downstream_gene_variant OV-AU 12 122408538 122408538 single base substitution C A intron_variant OV-AU 12 122412566 122412566 single base substitution G C downstream_gene_variant OV-AU 12 122412566 122412566 single base substitution G C intron_variant OV-AU 12 122415241 122415241 single base substitution A G intron_variant OV-AU 12 122417472 122417472 single base substitution T C intron_variant OV-AU 12 122419221 122419221 single base substitution T C intron_variant OV-AU 12 122439070 122439070 single base substitution C G intron_variant OV-AU 12 122439070 122439070 single base substitution C G upstream_gene_variant PACA-AU 12 122354411 122354411 single base substitution T C upstream_gene_variant PACA-AU 12 122356629 122356629 single base substitution G A intron_variant PACA-AU 12 122356629 122356629 single base substitution G A upstream_gene_variant PACA-AU 12 122358581 122358581 single base substitution C T intron_variant PACA-AU 12 122358581 122358581 single base substitution C T upstream_gene_variant PACA-AU 12 122359537 122359537 single base substitution G A exon_variant PACA-AU 12 122359537 122359537 single base substitution G A missense_variant R109H 326G>A PACA-AU 12 122366532 122366532 single base substitution G A intron_variant PACA-AU 12 122370890 122370890 single base substitution G A exon_variant PACA-AU 12 122370890 122370890 single base substitution G A intron_variant PACA-AU 12 122370890 122370890 single base substitution G A upstream_gene_variant PACA-AU 12 122373127 122373127 single base substitution T A downstream_gene_variant PACA-AU 12 122373127 122373127 single base substitution T A intron_variant PACA-AU 12 122378723 122378723 single base substitution C T intron_variant PACA-AU 12 122386757 122386757 single base substitution C T exon_variant PACA-AU 12 122386757 122386757 single base substitution C T intron_variant PACA-AU 12 122386757 122386757 single base substitution C T upstream_gene_variant PACA-AU 12 122389477 122389477 single base substitution G T downstream_gene_variant PACA-AU 12 122389477 122389477 single base substitution G T intron_variant PACA-AU 12 122389477 122389477 single base substitution G T upstream_gene_variant PACA-AU 12 122390322 122390323 deletion of <=200bp TA - downstream_gene_variant PACA-AU 12 122390322 122390323 deletion of <=200bp TA - intron_variant PACA-AU 12 122390322 122390323 deletion of <=200bp TA - upstream_gene_variant PACA-AU 12 122391765 122391765 single base substitution G T downstream_gene_variant PACA-AU 12 122391765 122391765 single base substitution G T exon_variant PACA-AU 12 122391765 122391765 single base substitution G T intron_variant PACA-AU 12 122398564 122398564 single base substitution G A downstream_gene_variant PACA-AU 12 122398564 122398564 single base substitution G A missense_variant R736K 2207G>A PACA-AU 12 122398564 122398564 single base substitution G A upstream_gene_variant PACA-AU 12 122403229 122403229 single base substitution C A intron_variant PACA-AU 12 122407132 122407132 single base substitution G A intron_variant PACA-AU 12 122413082 122413082 single base substitution G A downstream_gene_variant PACA-AU 12 122413082 122413082 single base substitution G A intron_variant PACA-AU 12 122414502 122414502 single base substitution A G downstream_gene_variant PACA-AU 12 122414502 122414502 single base substitution A G intron_variant PACA-AU 12 122416135 122416135 deletion of <=200bp A - intron_variant PACA-AU 12 122420014 122420014 single base substitution C A intron_variant PACA-AU 12 122422645 122422645 deletion of <=200bp T - intron_variant PACA-AU 12 122426121 122426121 single base substitution T G intron_variant PACA-AU 12 122429086 122429086 single base substitution C T intron_variant PACA-AU 12 122432881 122432881 single base substitution A T intron_variant PACA-AU 12 122432881 122432881 single base substitution A T upstream_gene_variant PACA-AU 12 122434228 122434228 deletion of <=200bp A - intron_variant PACA-AU 12 122434228 122434228 deletion of <=200bp A - upstream_gene_variant PACA-AU 12 122435661 122435661 single base substitution G T exon_variant PACA-AU 12 122435661 122435661 single base substitution G T intron_variant PACA-AU 12 122435661 122435661 single base substitution G T upstream_gene_variant PACA-AU 12 122446651 122446651 single base substitution G A downstream_gene_variant PACA-CA 12 122353242 122353242 single base substitution A G upstream_gene_variant PACA-CA 12 122353787 122353787 single base substitution G A upstream_gene_variant PACA-CA 12 122366138 122366138 single base substitution A G intron_variant PACA-CA 12 122366610 122366610 single base substitution A T intron_variant PACA-CA 12 122366994 122366994 single base substitution T C intron_variant PACA-CA 12 122369194 122369194 single base substitution T A intron_variant PACA-CA 12 122369194 122369194 single base substitution T A upstream_gene_variant PACA-CA 12 122373444 122373444 single base substitution C A downstream_gene_variant PACA-CA 12 122373444 122373444 single base substitution C A intron_variant PACA-CA 12 122388862 122388862 single base substitution C T downstream_gene_variant PACA-CA 12 122388862 122388862 single base substitution C T exon_variant PACA-CA 12 122388862 122388862 single base substitution C T intron_variant PACA-CA 12 122388862 122388862 single base substitution C T upstream_gene_variant PACA-CA 12 122394861 122394861 single base substitution G A intron_variant PACA-CA 12 122396764 122396764 single base substitution G A intron_variant PACA-CA 12 122396764 122396764 single base substitution G A upstream_gene_variant PACA-CA 12 122398280 122398280 single base substitution C T downstream_gene_variant PACA-CA 12 122398280 122398280 single base substitution C T intron_variant PACA-CA 12 122398280 122398280 single base substitution C T upstream_gene_variant PACA-CA 12 122399082 122399082 single base substitution G T downstream_gene_variant PACA-CA 12 122399082 122399082 single base substitution G T intron_variant PACA-CA 12 122399082 122399082 single base substitution G T upstream_gene_variant PACA-CA 12 122400992 122400992 single base substitution A G downstream_gene_variant PACA-CA 12 122400992 122400992 single base substitution A G intron_variant PACA-CA 12 122401412 122401412 single base substitution C A downstream_gene_variant PACA-CA 12 122401412 122401412 single base substitution C A intron_variant PACA-CA 12 122402384 122402384 single base substitution A G downstream_gene_variant PACA-CA 12 122402384 122402384 single base substitution A G intron_variant PACA-CA 12 122403530 122403530 single base substitution G T intron_variant PACA-CA 12 122404648 122404648 single base substitution C T intron_variant PACA-CA 12 122406189 122406189 single base substitution C A intron_variant PACA-CA 12 122409639 122409639 single base substitution G A 3_prime_UTR_variant PACA-CA 12 122409639 122409639 single base substitution G A downstream_gene_variant PACA-CA 12 122409639 122409639 single base substitution G A intron_variant PACA-CA 12 122414814 122414814 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 122414814 122414814 deletion of <=200bp A - intron_variant PACA-CA 12 122417773 122417773 single base substitution C T intron_variant PACA-CA 12 122419577 122419577 single base substitution G A intron_variant PACA-CA 12 122423314 122423314 single base substitution C T intron_variant PACA-CA 12 122427474 122427474 single base substitution C A intron_variant PACA-CA 12 122430488 122430488 single base substitution C T intron_variant PACA-CA 12 122430488 122430488 single base substitution C T upstream_gene_variant PACA-CA 12 122431739 122431739 single base substitution C T intron_variant PACA-CA 12 122431739 122431739 single base substitution C T upstream_gene_variant PACA-CA 12 122432955 122432955 single base substitution G A intron_variant PACA-CA 12 122432955 122432955 single base substitution G A upstream_gene_variant PACA-CA 12 122433301 122433301 single base substitution C A intron_variant PACA-CA 12 122433301 122433301 single base substitution C A upstream_gene_variant PACA-CA 12 122435806 122435806 single base substitution C T exon_variant PACA-CA 12 122435806 122435806 single base substitution C T intron_variant PACA-CA 12 122435806 122435806 single base substitution C T upstream_gene_variant PACA-CA 12 122438039 122438039 single base substitution C T intron_variant PACA-CA 12 122438039 122438039 single base substitution C T upstream_gene_variant PACA-CA 12 122440606 122440606 single base substitution T C intron_variant PACA-CA 12 122443563 122443563 single base substitution G A downstream_gene_variant PAEN-AU 12 122356390 122356390 single base substitution C A 5_prime_UTR_variant PAEN-AU 12 122356390 122356390 single base substitution C A upstream_gene_variant PAEN-AU 12 122380565 122380565 single base substitution C T intron_variant PAEN-AU 12 122380651 122380651 single base substitution G T intron_variant PAEN-AU 12 122380651 122380651 single base substitution G T upstream_gene_variant PAEN-AU 12 122412981 122412981 single base substitution C G downstream_gene_variant PAEN-AU 12 122412981 122412981 single base substitution C G intron_variant PAEN-AU 12 122427106 122427106 single base substitution C A intron_variant PAEN-IT 12 122390501 122390501 single base substitution C T downstream_gene_variant PAEN-IT 12 122390501 122390501 single base substitution C T intron_variant PAEN-IT 12 122390501 122390501 single base substitution C T upstream_gene_variant PBCA-DE 12 122366685 122366685 single base substitution C A intron_variant PBCA-DE 12 122367588 122367588 deletion of <=200bp T - intron_variant PBCA-DE 12 122367588 122367588 deletion of <=200bp T - upstream_gene_variant PBCA-DE 12 122370785 122370785 single base substitution A G exon_variant PBCA-DE 12 122370785 122370785 single base substitution A G intron_variant PBCA-DE 12 122370785 122370785 single base substitution A G upstream_gene_variant PBCA-DE 12 122372284 122372284 single base substitution C A downstream_gene_variant PBCA-DE 12 122372284 122372284 single base substitution C A intron_variant PBCA-DE 12 122372508 122372508 single base substitution T G downstream_gene_variant PBCA-DE 12 122372508 122372508 single base substitution T G intron_variant PBCA-DE 12 122376728 122376733 deletion of <=200bp AAATAC - intron_variant PBCA-DE 12 122376741 122376741 deletion of <=200bp A - intron_variant PBCA-DE 12 122376984 122376984 single base substitution T A intron_variant PBCA-DE 12 122378800 122378801 deletion of <=200bp CA - intron_variant PBCA-DE 12 122381933 122381933 single base substitution C A intron_variant PBCA-DE 12 122381933 122381933 single base substitution C A upstream_gene_variant PBCA-DE 12 122385381 122385381 insertion of <=200bp - T intron_variant PBCA-DE 12 122385381 122385381 insertion of <=200bp - T upstream_gene_variant PBCA-DE 12 122388963 122388963 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 122388963 122388963 insertion of <=200bp - A exon_variant PBCA-DE 12 122388963 122388963 insertion of <=200bp - A intron_variant PBCA-DE 12 122388963 122388963 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 122403235 122403235 single base substitution C G intron_variant PBCA-DE 12 122407348 122407348 single base substitution T G intron_variant PBCA-DE 12 122410562 122410562 deletion of <=200bp T - downstream_gene_variant PBCA-DE 12 122410562 122410562 deletion of <=200bp T - intron_variant PBCA-DE 12 122416135 122416137 deletion of <=200bp AAA - intron_variant PBCA-DE 12 122418332 122418332 deletion of <=200bp G - intron_variant PBCA-DE 12 122419749 122419749 single base substitution G A intron_variant PBCA-DE 12 122442780 122442780 single base substitution A G downstream_gene_variant PRAD-UK 12 122360845 122360845 single base substitution G A intron_variant PRAD-UK 12 122368998 122368998 single base substitution T A intron_variant PRAD-UK 12 122368998 122368998 single base substitution T A upstream_gene_variant PRAD-UK 12 122379111 122379111 single base substitution T C intron_variant PRAD-UK 12 122408427 122408427 single base substitution G A downstream_gene_variant PRAD-UK 12 122408427 122408427 single base substitution G A intron_variant PRAD-UK 12 122414327 122414327 single base substitution T G downstream_gene_variant PRAD-UK 12 122414327 122414327 single base substitution T G intron_variant PRAD-UK 12 122416407 122416407 single base substitution G T intron_variant PRAD-UK 12 122416693 122416693 single base substitution G A intron_variant PRAD-UK 12 122417926 122417926 single base substitution G A intron_variant PRAD-UK 12 122420131 122420131 single base substitution G C intron_variant PRAD-UK 12 122421437 122421437 single base substitution A T intron_variant PRAD-UK 12 122427378 122427378 single base substitution T C intron_variant PRAD-UK 12 122431769 122431769 single base substitution C T intron_variant PRAD-UK 12 122431769 122431769 single base substitution C T upstream_gene_variant PRAD-UK 12 122436905 122436905 single base substitution T C exon_variant PRAD-UK 12 122436905 122436905 single base substitution T C intron_variant PRAD-UK 12 122436905 122436905 single base substitution T C upstream_gene_variant PRAD-UK 12 122444377 122444377 single base substitution A T downstream_gene_variant PRAD-US 12 122359385 122359385 single base substitution C T exon_variant PRAD-US 12 122359385 122359385 single base substitution C T synonymous_variant G58G 174C>T PRAD-US 12 122396884 122396884 single base substitution G C exon_variant PRAD-US 12 122396884 122396884 single base substitution G C missense_variant V673L 2017G>C PRAD-US 12 122396884 122396884 single base substitution G C upstream_gene_variant PRAD-US 12 122441613 122441613 single base substitution C T exon_variant PRAD-US 12 122441613 122441613 single base substitution C T synonymous_variant F1131F 3393C>T READ-US 12 122359515 122359515 single base substitution G T exon_variant READ-US 12 122359515 122359515 single base substitution G T stop_gained E102* 304G>T READ-US 12 122386916 122386916 single base substitution T A exon_variant READ-US 12 122386916 122386916 single base substitution T A missense_variant N406K 1218T>A READ-US 12 122386916 122386916 single base substitution T A upstream_gene_variant RECA-EU 12 122354090 122354090 single base substitution G T upstream_gene_variant RECA-EU 12 122356781 122356781 single base substitution C A intron_variant RECA-EU 12 122356781 122356781 single base substitution C A upstream_gene_variant RECA-EU 12 122362374 122362374 single base substitution T G intron_variant RECA-EU 12 122370358 122370358 single base substitution C T exon_variant RECA-EU 12 122370358 122370358 single base substitution C T intron_variant RECA-EU 12 122370358 122370358 single base substitution C T upstream_gene_variant RECA-EU 12 122377877 122377877 single base substitution A C intron_variant RECA-EU 12 122391234 122391234 single base substitution G A downstream_gene_variant RECA-EU 12 122391234 122391234 single base substitution G A exon_variant RECA-EU 12 122391234 122391234 single base substitution G A intron_variant RECA-EU 12 122392053 122392053 single base substitution A T downstream_gene_variant RECA-EU 12 122392053 122392053 single base substitution A T exon_variant RECA-EU 12 122392053 122392053 single base substitution A T intron_variant RECA-EU 12 122392053 122392053 single base substitution A T missense_variant S450C 1348A>T RECA-EU 12 122410150 122410150 single base substitution G T downstream_gene_variant RECA-EU 12 122410150 122410150 single base substitution G T intron_variant RECA-EU 12 122411360 122411360 single base substitution T A downstream_gene_variant RECA-EU 12 122411360 122411360 single base substitution T A intron_variant RECA-EU 12 122419762 122419762 single base substitution T G intron_variant RECA-EU 12 122421068 122421068 single base substitution G C intron_variant RECA-EU 12 122424980 122424980 single base substitution T G intron_variant RECA-EU 12 122441845 122441845 single base substitution C T downstream_gene_variant RECA-EU 12 122443266 122443266 single base substitution G A downstream_gene_variant RECA-EU 12 122443273 122443273 single base substitution G A downstream_gene_variant RECA-EU 12 122445253 122445253 single base substitution C T downstream_gene_variant SKCA-BR 12 122351894 122351894 single base substitution C T upstream_gene_variant SKCA-BR 12 122352652 122352652 single base substitution C T upstream_gene_variant SKCA-BR 12 122352885 122352885 single base substitution C T upstream_gene_variant SKCA-BR 12 122353534 122353534 single base substitution C T upstream_gene_variant SKCA-BR 12 122354365 122354365 single base substitution C T upstream_gene_variant SKCA-BR 12 122354762 122354762 single base substitution T A upstream_gene_variant SKCA-BR 12 122354848 122354848 single base substitution C T upstream_gene_variant SKCA-BR 12 122355605 122355605 single base substitution C T upstream_gene_variant SKCA-BR 12 122356405 122356405 single base substitution C T 5_prime_UTR_variant SKCA-BR 12 122356405 122356405 single base substitution C T upstream_gene_variant SKCA-BR 12 122357563 122357563 single base substitution A G intron_variant SKCA-BR 12 122357563 122357563 single base substitution A G upstream_gene_variant SKCA-BR 12 122358537 122358537 single base substitution C T intron_variant SKCA-BR 12 122358537 122358537 single base substitution C T upstream_gene_variant SKCA-BR 12 122363927 122363929 deletion of <=200bp ATT - intron_variant SKCA-BR 12 122364586 122364586 single base substitution C T intron_variant SKCA-BR 12 122364965 122364965 single base substitution C T intron_variant SKCA-BR 12 122365094 122365094 insertion of <=200bp - GT intron_variant SKCA-BR 12 122366533 122366543 deletion of <=200bp TATATATATAC - intron_variant SKCA-BR 12 122366534 122366544 deletion of <=200bp ATATATATACG - intron_variant SKCA-BR 12 122366542 122366544 deletion of <=200bp ACG - intron_variant SKCA-BR 12 122366546 122366546 single base substitution A G intron_variant SKCA-BR 12 122366562 122366564 deletion of <=200bp ACG - intron_variant SKCA-BR 12 122366612 122366612 single base substitution T A intron_variant SKCA-BR 12 122367085 122367085 single base substitution G A intron_variant SKCA-BR 12 122367790 122367790 single base substitution A C intron_variant SKCA-BR 12 122367790 122367790 single base substitution A C upstream_gene_variant SKCA-BR 12 122368041 122368041 single base substitution C T intron_variant SKCA-BR 12 122368041 122368041 single base substitution C T upstream_gene_variant SKCA-BR 12 122368934 122368934 single base substitution C T intron_variant SKCA-BR 12 122368934 122368934 single base substitution C T upstream_gene_variant SKCA-BR 12 122370908 122370908 single base substitution C T exon_variant SKCA-BR 12 122370908 122370908 single base substitution C T intron_variant SKCA-BR 12 122370908 122370908 single base substitution C T upstream_gene_variant SKCA-BR 12 122371853 122371853 single base substitution A G downstream_gene_variant SKCA-BR 12 122371853 122371853 single base substitution A G intron_variant SKCA-BR 12 122371853 122371853 single base substitution A G upstream_gene_variant SKCA-BR 12 122372508 122372508 single base substitution T G downstream_gene_variant SKCA-BR 12 122372508 122372508 single base substitution T G intron_variant SKCA-BR 12 122372995 122372995 single base substitution A C downstream_gene_variant SKCA-BR 12 122372995 122372995 single base substitution A C intron_variant SKCA-BR 12 122373002 122373002 single base substitution C T downstream_gene_variant SKCA-BR 12 122373002 122373002 single base substitution C T intron_variant SKCA-BR 12 122375303 122375303 single base substitution A G downstream_gene_variant SKCA-BR 12 122375303 122375303 single base substitution A G intron_variant SKCA-BR 12 122375304 122375304 single base substitution T G downstream_gene_variant SKCA-BR 12 122375304 122375304 single base substitution T G intron_variant SKCA-BR 12 122377088 122377088 single base substitution G A intron_variant SKCA-BR 12 122380307 122380307 single base substitution G A intron_variant SKCA-BR 12 122381936 122381936 single base substitution C T intron_variant SKCA-BR 12 122381936 122381936 single base substitution C T upstream_gene_variant SKCA-BR 12 122384375 122384375 single base substitution T G intron_variant SKCA-BR 12 122384375 122384375 single base substitution T G upstream_gene_variant SKCA-BR 12 122387612 122387612 single base substitution G C downstream_gene_variant SKCA-BR 12 122387612 122387612 single base substitution G C exon_variant SKCA-BR 12 122387612 122387612 single base substitution G C intron_variant SKCA-BR 12 122387612 122387612 single base substitution G C upstream_gene_variant SKCA-BR 12 122390691 122390691 single base substitution T G downstream_gene_variant SKCA-BR 12 122390691 122390691 single base substitution T G exon_variant SKCA-BR 12 122390691 122390691 single base substitution T G intron_variant SKCA-BR 12 122392575 122392575 single base substitution C T intron_variant SKCA-BR 12 122392576 122392576 single base substitution C T intron_variant SKCA-BR 12 122393413 122393413 single base substitution G A intron_variant SKCA-BR 12 122394076 122394076 single base substitution A G intron_variant SKCA-BR 12 122394801 122394801 single base substitution C T intron_variant SKCA-BR 12 122396657 122396657 single base substitution G A intron_variant SKCA-BR 12 122396657 122396657 single base substitution G A upstream_gene_variant SKCA-BR 12 122397855 122397855 single base substitution C A downstream_gene_variant SKCA-BR 12 122397855 122397855 single base substitution C A intron_variant SKCA-BR 12 122397855 122397855 single base substitution C A upstream_gene_variant SKCA-BR 12 122398546 122398546 single base substitution T A downstream_gene_variant SKCA-BR 12 122398546 122398546 single base substitution T A missense_variant V730D 2189T>A SKCA-BR 12 122398546 122398546 single base substitution T A upstream_gene_variant SKCA-BR 12 122400614 122400614 insertion of <=200bp - AAAAAGG downstream_gene_variant SKCA-BR 12 122400614 122400614 insertion of <=200bp - AAAAAGG intron_variant SKCA-BR 12 122405195 122405195 single base substitution G A intron_variant SKCA-BR 12 122410998 122410998 single base substitution C T downstream_gene_variant SKCA-BR 12 122410998 122410998 single base substitution C T intron_variant SKCA-BR 12 122411319 122411319 single base substitution T G downstream_gene_variant SKCA-BR 12 122411319 122411319 single base substitution T G intron_variant SKCA-BR 12 122418717 122418717 single base substitution A G intron_variant SKCA-BR 12 122423222 122423222 single base substitution C T intron_variant SKCA-BR 12 122423264 122423264 single base substitution A C intron_variant SKCA-BR 12 122423592 122423592 single base substitution C T intron_variant SKCA-BR 12 122425418 122425418 single base substitution C T intron_variant SKCA-BR 12 122427045 122427045 single base substitution G A intron_variant SKCA-BR 12 122430226 122430226 single base substitution G A intron_variant SKCA-BR 12 122430226 122430226 single base substitution G A upstream_gene_variant SKCA-BR 12 122430893 122430893 single base substitution C G intron_variant SKCA-BR 12 122430893 122430893 single base substitution C G upstream_gene_variant SKCA-BR 12 122431784 122431784 single base substitution C T intron_variant SKCA-BR 12 122431784 122431784 single base substitution C T upstream_gene_variant SKCA-BR 12 122431815 122431815 single base substitution G A intron_variant SKCA-BR 12 122431815 122431815 single base substitution G A upstream_gene_variant SKCA-BR 12 122432359 122432359 single base substitution C G intron_variant SKCA-BR 12 122432359 122432359 single base substitution C G upstream_gene_variant SKCA-BR 12 122435239 122435239 single base substitution C T exon_variant SKCA-BR 12 122435239 122435239 single base substitution C T intron_variant SKCA-BR 12 122435239 122435239 single base substitution C T upstream_gene_variant SKCA-BR 12 122440009 122440009 single base substitution C T intron_variant SKCA-BR 12 122441996 122441996 single base substitution T A downstream_gene_variant SKCA-BR 12 122443562 122443562 single base substitution C T downstream_gene_variant SKCM-US 12 122353785 122353785 single base substitution C T upstream_gene_variant SKCM-US 12 122353804 122353804 single base substitution C T upstream_gene_variant SKCM-US 12 122359542 122359542 single base substitution G A exon_variant SKCM-US 12 122359542 122359542 single base substitution G A missense_variant E111K 331G>A SKCM-US 12 122361869 122361869 single base substitution G A exon_variant SKCM-US 12 122361869 122361869 single base substitution G A synonymous_variant K240K 720G>A SKCM-US 12 122395121 122395121 single base substitution A C exon_variant SKCM-US 12 122395121 122395121 single base substitution A C missense_variant E559D 1677A>C SKCM-US 12 122395121 122395121 single base substitution A C upstream_gene_variant SKCM-US 12 122396265 122396265 single base substitution G A exon_variant SKCM-US 12 122396265 122396265 single base substitution G A synonymous_variant K606K 1818G>A SKCM-US 12 122396265 122396265 single base substitution G A upstream_gene_variant SKCM-US 12 122396368 122396368 single base substitution C T exon_variant SKCM-US 12 122396368 122396368 single base substitution C T missense_variant L641F 1921C>T SKCM-US 12 122396368 122396368 single base substitution C T upstream_gene_variant SKCM-US 12 122396930 122396930 single base substitution C T exon_variant SKCM-US 12 122396930 122396930 single base substitution C T missense_variant P688L 2063C>T SKCM-US 12 122396930 122396930 single base substitution C T upstream_gene_variant SKCM-US 12 122398590 122398590 single base substitution C T downstream_gene_variant SKCM-US 12 122398590 122398590 single base substitution C T stop_gained R745* 2233C>T SKCM-US 12 122398590 122398590 single base substitution C T upstream_gene_variant SKCM-US 12 122399963 122399963 single base substitution C T downstream_gene_variant SKCM-US 12 122399963 122399963 single base substitution C T exon_variant SKCM-US 12 122399963 122399963 single base substitution C T missense_variant P796L 2387C>T SKCM-US 12 122399997 122399997 single base substitution G A downstream_gene_variant SKCM-US 12 122399997 122399997 single base substitution G A exon_variant SKCM-US 12 122399997 122399997 single base substitution G A synonymous_variant R807R 2421G>A SKCM-US 12 122405975 122405975 single base substitution C T exon_variant SKCM-US 12 122405975 122405975 single base substitution C T missense_variant P891S 2671C>T SKCM-US 12 122437759 122437759 single base substitution C T exon_variant SKCM-US 12 122437759 122437759 single base substitution C T synonymous_variant I1048I 3144C>T SKCM-US 12 122437759 122437759 single base substitution C T upstream_gene_variant SKCM-US 12 122437829 122437829 single base substitution C T exon_variant SKCM-US 12 122437829 122437829 single base substitution C T synonymous_variant L1072L 3214C>T SKCM-US 12 122437829 122437829 single base substitution C T upstream_gene_variant SKCM-US 12 122437850 122437850 single base substitution G A missense_variant G1079S 3235G>A SKCM-US 12 122437850 122437850 single base substitution G A splice_region_variant SKCM-US 12 122437850 122437850 single base substitution G A upstream_gene_variant SKCM-US 12 122439469 122439469 single base substitution G A exon_variant SKCM-US 12 122439469 122439469 single base substitution G A missense_variant G1101E 3302G>A SKCM-US 12 122439469 122439469 single base substitution G A upstream_gene_variant SKCM-US 12 122439497 122439497 single base substitution C T exon_variant SKCM-US 12 122439497 122439497 single base substitution C T synonymous_variant S1110S 3330C>T SKCM-US 12 122439497 122439497 single base substitution C T upstream_gene_variant STAD-US 12 122359496 122359496 single base substitution A C exon_variant STAD-US 12 122359496 122359496 single base substitution A C missense_variant E95D 285A>C STAD-US 12 122359526 122359526 single base substitution G A exon_variant STAD-US 12 122359526 122359526 single base substitution G A synonymous_variant A105A 315G>A STAD-US 12 122361622 122361622 single base substitution T G exon_variant STAD-US 12 122361622 122361622 single base substitution T G missense_variant F158C 473T>G STAD-US 12 122372182 122372182 single base substitution C T downstream_gene_variant STAD-US 12 122372182 122372182 single base substitution C T exon_variant STAD-US 12 122372182 122372182 single base substitution C T synonymous_variant C306C 918C>T STAD-US 12 122386901 122386901 deletion of <=200bp T - exon_variant STAD-US 12 122386901 122386901 deletion of <=200bp T - frameshift_variant T401 STAD-US 12 122386901 122386901 deletion of <=200bp T - upstream_gene_variant STAD-US 12 122395142 122395142 single base substitution C G exon_variant STAD-US 12 122395142 122395142 single base substitution C G missense_variant D566E 1698C>G STAD-US 12 122395142 122395142 single base substitution C G upstream_gene_variant STAD-US 12 122396297 122396297 single base substitution A G exon_variant STAD-US 12 122396297 122396297 single base substitution A G missense_variant Y617C 1850A>G STAD-US 12 122396297 122396297 single base substitution A G upstream_gene_variant STAD-US 12 122396951 122396951 single base substitution G A exon_variant STAD-US 12 122396951 122396951 single base substitution G A missense_variant S695N 2084G>A STAD-US 12 122396951 122396951 single base substitution G A upstream_gene_variant STAD-US 12 122396992 122396992 single base substitution G A exon_variant STAD-US 12 122396992 122396992 single base substitution G A missense_variant A709T 2125G>A STAD-US 12 122396992 122396992 single base substitution G A upstream_gene_variant STAD-US 12 122398586 122398586 single base substitution C G downstream_gene_variant STAD-US 12 122398586 122398586 single base substitution C G missense_variant S743R 2229C>G STAD-US 12 122398586 122398586 single base substitution C G upstream_gene_variant STAD-US 12 122404867 122404867 single base substitution G A exon_variant STAD-US 12 122404867 122404867 single base substitution G A synonymous_variant T833T 2499G>A STAD-US 12 122439464 122439464 single base substitution C T exon_variant STAD-US 12 122439464 122439464 single base substitution C T synonymous_variant P1099P 3297C>T STAD-US 12 122439464 122439464 single base substitution C T upstream_gene_variant STAD-US 12 122441652 122441652 single base substitution C T exon_variant STAD-US 12 122441652 122441652 single base substitution C T synonymous_variant S1144S 3432C>T THCA-SA 12 122359397 122359397 insertion of <=200bp - GAGGAGGAGGAGAAA exon_variant THCA-SA 12 122359397 122359397 insertion of <=200bp - GAGGAGGAGGAGAAA inframe_insertion G62GRRRRK THCA-US 12 122359381 122359381 single base substitution C T exon_variant THCA-US 12 122359381 122359381 single base substitution C T missense_variant T57M 170C>T UCEC-US 12 122359260 122359260 single base substitution G T stop_gained E17* 49G>T UCEC-US 12 122359260 122359260 single base substitution G T upstream_gene_variant UCEC-US 12 122359339 122359339 single base substitution A G exon_variant UCEC-US 12 122359339 122359339 single base substitution A G missense_variant D43G 128A>G UCEC-US 12 122359398 122359398 insertion of <=200bp - AGGGGGAGGAGAAAG exon_variant UCEC-US 12 122359398 122359398 insertion of <=200bp - AGGGGGAGGAGAAAG inframe_insertion E63RGRRKE UCEC-US 12 122361615 122361615 single base substitution A T exon_variant UCEC-US 12 122361615 122361615 single base substitution A T missense_variant I156F 466A>T UCEC-US 12 122361875 122361875 single base substitution A C exon_variant UCEC-US 12 122361875 122361875 single base substitution A C missense_variant K242N 726A>C UCEC-US 12 122380510 122380510 single base substitution G A exon_variant UCEC-US 12 122380510 122380510 single base substitution G A missense_variant D357N 1069G>A UCEC-US 12 122380855 122380855 single base substitution G A exon_variant UCEC-US 12 122380855 122380855 single base substitution G A missense_variant E389K 1165G>A UCEC-US 12 122380855 122380855 single base substitution G A upstream_gene_variant UCEC-US 12 122386896 122386896 single base substitution G A exon_variant UCEC-US 12 122386896 122386896 single base substitution G A missense_variant V400I 1198G>A UCEC-US 12 122386896 122386896 single base substitution G A upstream_gene_variant UCEC-US 12 122389385 122389385 single base substitution G A downstream_gene_variant UCEC-US 12 122389385 122389385 single base substitution G A exon_variant UCEC-US 12 122389385 122389385 single base substitution G A splice_acceptor_variant UCEC-US 12 122389385 122389385 single base substitution G A upstream_gene_variant UCEC-US 12 122392060 122392060 single base substitution C T downstream_gene_variant UCEC-US 12 122392060 122392060 single base substitution C T exon_variant UCEC-US 12 122392060 122392060 single base substitution C T intron_variant UCEC-US 12 122392060 122392060 single base substitution C T missense_variant S452F 1355C>T UCEC-US 12 122392135 122392135 single base substitution G A exon_variant UCEC-US 12 122392135 122392135 single base substitution G A intron_variant UCEC-US 12 122392135 122392135 single base substitution G A missense_variant R477H 1430G>A UCEC-US 12 122395030 122395030 single base substitution C T exon_variant UCEC-US 12 122395030 122395030 single base substitution C T missense_variant T529I 1586C>T UCEC-US 12 122395030 122395030 single base substitution C T upstream_gene_variant UCEC-US 12 122395054 122395054 single base substitution G T exon_variant UCEC-US 12 122395054 122395054 single base substitution G T missense_variant S537I 1610G>T UCEC-US 12 122395054 122395054 single base substitution G T upstream_gene_variant UCEC-US 12 122395069 122395069 single base substitution G A exon_variant UCEC-US 12 122395069 122395069 single base substitution G A missense_variant G542D 1625G>A UCEC-US 12 122395069 122395069 single base substitution G A upstream_gene_variant UCEC-US 12 122396269 122396269 single base substitution G A exon_variant UCEC-US 12 122396269 122396269 single base substitution G A missense_variant A608T 1822G>A UCEC-US 12 122396269 122396269 single base substitution G A upstream_gene_variant UCEC-US 12 122396368 122396368 single base substitution C A exon_variant UCEC-US 12 122396368 122396368 single base substitution C A missense_variant L641I 1921C>A UCEC-US 12 122396368 122396368 single base substitution C A upstream_gene_variant UCEC-US 12 122396425 122396425 single base substitution G A exon_variant UCEC-US 12 122396425 122396425 single base substitution G A missense_variant E660K 1978G>A UCEC-US 12 122396425 122396425 single base substitution G A upstream_gene_variant UCEC-US 12 122398591 122398591 single base substitution G A downstream_gene_variant UCEC-US 12 122398591 122398591 single base substitution G A missense_variant R745Q 2234G>A UCEC-US 12 122398591 122398591 single base substitution G A upstream_gene_variant UCEC-US 12 122399948 122399948 single base substitution A G downstream_gene_variant UCEC-US 12 122399948 122399948 single base substitution A G exon_variant UCEC-US 12 122399948 122399948 single base substitution A G missense_variant D791G 2372A>G UCEC-US 12 122405989 122405989 single base substitution C T exon_variant UCEC-US 12 122405989 122405989 single base substitution C T synonymous_variant A895A 2685C>T UCEC-US 12 122406048 122406048 single base substitution C T exon_variant UCEC-US 12 122406048 122406048 single base substitution C T missense_variant S915L 2744C>T UCEC-US 12 122413505 122413505 single base substitution G A downstream_gene_variant UCEC-US 12 122413505 122413505 single base substitution G A missense_variant E974K 2920G>A UCEC-US 12 122441593 122441593 single base substitution G A exon_variant UCEC-US 12 122441593 122441593 single base substitution G A missense_variant E1125K 3373G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM936136 c.1822G>A p.A608T Substitution - Missense 12:121958363-121958363 + TCGA-AP-A056-01 COSM936128 c.1165G>A p.E389K Substitution - Missense 12:121942949-121942949 + CHC902T COSM4790455 c.625G>A p.G209R Substitution - Missense 12:121923868-121923868 + TCGA-AM-5820-01 COSM3752987 c.2608G>T p.V870L Substitution - Missense 12:121968006-121968006 + CN-AML-CR-21-Dx COSM1359536 c.919G>A p.V307I Substitution - Missense 12:121934277-121934277 + G6 COSM1191979 c.181G>A p.E61K Substitution - Missense 12:121921486-121921486 + TCGA-HU-A4GT-01 COSM4039518 c.2084G>A p.S695N Substitution - Missense 12:121959045-121959045 + TCGA-AM-5820-01 COSM3752985 c.858C>T p.N286N Substitution - coding silent 12:121931856-121931856 + TCGA-F4-6459-01 COSM1359543 c.3394G>A p.A1132T Substitution - Missense 12:122003708-122003708 + TCGA-AP-A0LM-01 COSM936140 c.2372A>G p.D791G Substitution - Missense 12:121962042-121962042 + 2292387 COSM415991 c.2222G>A p.R741H Substitution - Missense 12:121960673-121960673 + TCGA-E9-A1R4-01 COSM1476261 c.730_731insC p.V246fs*64 Insertion - Frameshift 12:121923973-121923974 + DLBCL689 COSM1581934 c.2918T>G p.M973R Substitution - Missense 12:121975597-121975597 + TCGA-HU-A4H3-01 COSM4039517 c.1850A>G p.Y617C Substitution - Missense 12:121958391-121958391 + T3094 COSM936138 c.1978G>A p.E660K Substitution - Missense 12:121958519-121958519 + TCGA-EE-A29M-06 COSM3457232 c.720G>A p.K240K Substitution - coding silent 12:121923963-121923963 + RK190_C01 COSM3739476 c.1891A>G p.K631E Substitution - Missense 12:121958432-121958432 + TCGA-EE-A3J3-06 COSM3870958 c.3214C>T p.L1072L Substitution - coding silent 12:121999923-121999923 + MOLT-4 COSM1677430 c.2602G>T p.D868Y Substitution - Missense 12:121967064-121967064 + 547 COSM5612944 c.1513A>G p.T505A Substitution - Missense 12:121954312-121954312 + PD13766a COSM5798456 c.2530G>A p.E844K Substitution - Missense 12:121966992-121966992 + T3225 COSM2176358 c.3331G>A p.V1111I Substitution - Missense 12:122001592-122001592 + TCGA-AD-6890-01 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + TCGA-CJ-5671-01 COSM467917 c.1275A>G p.E425E Substitution - coding silent 12:121951485-121951485 + TCGA-G2-A3VY-01 COSM3792277 c.1388C>T p.S463L Substitution - Missense 12:121954187-121954187 + TCGA-CH-5753-01 COSM1127528 c.2017G>C p.V673L Substitution - Missense 12:121958978-121958978 + TCGA-AA-A010-01 COSM286514 c.800G>A p.R267Q Substitution - Missense 12:121931798-121931798 + PT16_1 COSM5898467 c.2030A>T p.D677V Substitution - Missense 12:121958991-121958991 + SCC-25 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + UM-SCC-11B COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-BH-A2L8-01 COSM3811290 c.1575C>G p.F525L Substitution - Missense 12:121957113-121957113 + PT48 COSM5622759 c.2323C>T p.L775F Substitution - Missense 12:121961993-121961993 + TCGA-D3-A51T-06 COSM3457235 c.2387C>T p.P796L Substitution - Missense 12:121962057-121962057 + SC_9076 COSM5560234 c.3246G>C p.M1082I Substitution - Missense 12:122001507-122001507 + CRC-02T COSM5454063 c.2214C>T p.R738R Substitution - coding silent 12:121960665-121960665 + TCGA-G7-6795-01 COSM3986716 c.2159A>G p.Y720C Substitution - Missense 12:121960610-121960610 + sysucc-1163T COSM5458337 c.3395C>T p.A1132V Substitution - Missense 12:122003709-122003709 + HOP-62 COSM1677428 c.939G>A p.W313* Substitution - Nonsense 12:121934297-121934297 + CHC322T COSM3752986 c.1948C>T p.L650F Substitution - Missense 12:121958489-121958489 + TCGA-HU-A4GC-01 COSM4039521 c.2499G>A p.T833T Substitution - coding silent 12:121966961-121966961 + HCC2998 COSM1677427 c.890G>C p.G297A Substitution - Missense 12:121934248-121934248 + TCGA-B5-A11E-01 COSM936133 c.1586C>T p.T529I Substitution - Missense 12:121957124-121957124 + UM-SCC-4 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-AA-3510-01 COSM286514 c.800G>A p.R267Q Substitution - Missense 12:121931798-121931798 + TCGA-CM-6162-01 COSM1359531 c.616_617delAG p.E207fs*35 Deletion - Frameshift 12:121923859-121923860 + 8031867 COSM3384105 c.326G>A p.R109H Substitution - Missense 12:121921631-121921631 + Farage COSM1581930 c.1485A>T p.K495N Substitution - Missense 12:121954284-121954284 + TCGA-AD-6964-01 COSM1359542 c.3379A>G p.T1127A Substitution - Missense 12:122003693-122003693 + TCGA-AP-A056-01 COSM936138 c.1978G>A p.E660K Substitution - Missense 12:121958519-121958519 + KYSE30 COSM5049604 c.1475A>T p.K492M Substitution - Missense 12:121954274-121954274 + PT41 COSM5924601 c.2105C>T p.S702F Substitution - Missense 12:121959066-121959066 + BD242T COSM936124 c.187_188ins15 p.E63_E64insGEEKE Insertion - In frame 12:121921492-121921493 + PTC-7C COSM3752986 c.1948C>T p.L650F Substitution - Missense 12:121958489-121958489 + UM-SCC-2 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-AX-A063-01 COSM936135 c.1625G>A p.G542D Substitution - Missense 12:121957163-121957163 + TCGA-F4-6570-01 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + TCGA-FI-A2EX-01 COSM936124 c.187_188ins15 p.E63_E64insGEEKE Insertion - In frame 12:121921492-121921493 + TCGA-AZ-6600-01 COSM1359527 c.184_186delGGG p.G62delG Deletion - In frame 12:121921489-121921491 + TCGA-C5-A1BQ-01 COSM1476263 c.3001G>A p.E1001K Substitution - Missense 12:121975680-121975680 + TCGA-CA-6717-01 COSM1359538 c.1984G>A p.A662T Substitution - Missense 12:121958945-121958945 + TCGA-A5-A0VO-01 COSM936130 c.1270-1G>A p.? Unknown 12:121951479-121951479 + TCGA-CA-6717-01 COSM936137 c.1921C>A p.L641I Substitution - Missense 12:121958462-121958462 + DLBCL756 COSM1581931 c.2163G>A p.M721I Substitution - Missense 12:121960614-121960614 + C0031T COSM4166080 c.1348A>T p.S450C Substitution - Missense 12:121954147-121954147 + TCGA-AY-5543-01 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + TCGA-AR-A255-01 COSM1476262 c.2911G>C p.D971H Substitution - Missense 12:121975590-121975590 + 3N29-VS-3T29 COSM4980464 c.3249G>T p.T1083T Substitution - coding silent 12:122001510-122001510 + TCGA-B6-A40C-01 COSM1191979 c.181G>A p.E61K Substitution - Missense 12:121921486-121921486 + TCGA-A6-5665-01 COSM1359540 c.2712C>T p.C904C Substitution - coding silent 12:121968110-121968110 + TCGA-G4-6586-01 COSM1359541 c.3320C>T p.A1107V Substitution - Missense 12:122001581-122001581 + HCC2998 COSM2176281 c.370A>G p.I124V Substitution - Missense 12:121921675-121921675 + 71M COSM5596143 c.1960A>T p.S654C Substitution - Missense 12:121958501-121958501 + TCGA-EE-A29L-06 COSM3457231 c.331G>A p.E111K Substitution - Missense 12:121921636-121921636 + TCGA-AG-A002-01 COSM264693 c.2213G>A p.R738H Substitution - Missense 12:121960664-121960664 + SC_9081 COSM5550267 c.1832C>T p.A611V Substitution - Missense 12:121958373-121958373 + UPCI:SCC090 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-06-0139 COSM1359527 c.184_186delGGG p.G62delG Deletion - In frame 12:121921489-121921491 + TCGA-A2-A0EY-01 COSM430560 c.2888C>T p.S963F Substitution - Missense 12:121975567-121975567 + TCGA-EE-A2GI-06 COSM3457237 c.3144C>T p.I1048I Substitution - coding silent 12:121999853-121999853 + TCGA-AF-A56L-01 COSM936147 c.3024C>T p.N1008N Substitution - coding silent 12:121999733-121999733 + TCGA-BR-4184-01 COSM4039519 c.2125G>A p.A709T Substitution - Missense 12:121959086-121959086 + EGC10 COSM1359527 c.184_186delGGG p.G62delG Deletion - In frame 12:121921489-121921491 + T3064 COSM4741050 c.1072G>A p.A358T Substitution - Missense 12:121942607-121942607 + TCGA-A6-6781-01 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + UD-SCC-2 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + 523LT COSM4386647 c.3037G>T p.G1013C Substitution - Missense 12:121999746-121999746 + cSCCP4 COSM138904 c.761C>T p.S254L Substitution - Missense 12:121931759-121931759 + TCGA-D5-6930-01 COSM202553 c.3025G>A p.E1009K Substitution - Missense 12:121999734-121999734 + 2293782 COSM4608427 c.3040G>T p.E1014* Substitution - Nonsense 12:121999749-121999749 + U343 COSM5712650 c.2273C>G p.P758R Substitution - Missense 12:121960724-121960724 + MedB-1 COSM5622171 c.2465T>G p.L822R Substitution - Missense 12:121962135-121962135 + WSU-HN6 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + BD135T COSM5516638 c.3372C>T p.D1124D Substitution - coding silent 12:122003686-122003686 + DLBCL807 COSM1581932 c.2300G>A p.R767K Substitution - Missense 12:121960751-121960751 + MD-279 COSM303564 c.1249C>T p.R417W Substitution - Missense 12:121949041-121949041 + T2269 COSM4741053 c.3199C>T p.R1067* Substitution - Nonsense 12:121999908-121999908 + 587332 COSM1232641 c.1050G>T p.M350I Substitution - Missense 12:121942585-121942585 + 587342 COSM1232642 c.2249G>A p.G750E Substitution - Missense 12:121960700-121960700 + UM-SCC-17B COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + CAL27 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + T98G COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-06-0139 COSM1191979 c.181G>A p.E61K Substitution - Missense 12:121921486-121921486 + TCGA-02-0033-01 COSM3398457 c.3166G>A p.G1056S Substitution - Missense 12:121999875-121999875 + DLBCL781 COSM1581936 c.3114G>C p.K1038N Substitution - Missense 12:121999823-121999823 + TCGA-AP-A059-01 COSM936132 c.1430G>A p.R477H Substitution - Missense 12:121954229-121954229 + TCGA-AP-A0LM-01 COSM936143 c.2920G>A p.E974K Substitution - Missense 12:121975599-121975599 + 2492700 COSM5730152 c.2998_3002delGAAGA p.E1001fs*2 Deletion - Frameshift 12:121975677-121975681 + TCGA-G9-6342-01 COSM3670999 c.3330C>A p.S1110S Substitution - coding silent 12:122001591-122001591 + TCGA-KK-A59V-01 COSM2176276 c.174C>T p.G58G Substitution - coding silent 12:121921479-121921479 + T368 COSM4741052 c.3053C>T p.T1018I Substitution - Missense 12:121999762-121999762 + TCGA-HC-A6AO-01 COSM2176361 c.3393C>T p.F1131F Substitution - coding silent 12:122003707-122003707 + 12T COSM106902 c.3238G>A p.E1080K Substitution - Missense 12:122001499-122001499 + HCC152T COSM1191979 c.181G>A p.E61K Substitution - Missense 12:121921486-121921486 + TCGA-EE-A3JI-06 COSM3457240 c.3330C>T p.S1110S Substitution - coding silent 12:122001591-122001591 + LN229 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-AP-A051-01 COSM936131 c.1355C>T p.S452F Substitution - Missense 12:121954154-121954154 + TCGA-D5-6534-01 COSM1359539 c.2313G>A p.E771E Substitution - coding silent 12:121961983-121961983 + 2492701 COSM5730152 c.2998_3002delGAAGA p.E1001fs*2 Deletion - Frameshift 12:121975677-121975681 + TCGA-CA-6718-01 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-34-2596-01 COSM692613 c.2927G>C p.R976T Substitution - Missense 12:121975606-121975606 + TCGA-F5-6814-01 COSM3416559 c.304G>T p.E102* Substitution - Nonsense 12:121921609-121921609 + Pat_04_A COSM5840378 c.3185G>A p.G1062E Substitution - Missense 12:121999894-121999894 + TCGA-E9-A1R4-01 COSM1476260 c.644C>T p.S215F Substitution - Missense 12:121923887-121923887 + CAL33 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + G6 COSM1191978 c.173G>A p.G58D Substitution - Missense 12:121921478-121921478 + SNUH_G43_S1 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + TCGA-AD-6890-01 COSM1359527 c.184_186delGGG p.G62delG Deletion - In frame 12:121921489-121921491 + S02139 COSM5674090 c.2443A>T p.N815Y Substitution - Missense 12:121962113-121962113 + PD4100a COSM165587 c.568C>G p.P190A Substitution - Missense 12:121923811-121923811 + B61-Tumor COSM1746811 c.1512C>A p.I504I Substitution - coding silent 12:121954311-121954311 + TCGA-22-5480-01 COSM692616 c.1625G>C p.G542A Substitution - Missense 12:121957163-121957163 + CSCC-31-T COSM4484812 c.2856C>T p.F952F Substitution - coding silent 12:121975328-121975328 + TCGA-DA-A1I0-06 COSM3457238 c.3235G>A p.G1079S Substitution - Missense 12:121999944-121999944 + Detroit_562 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + LUAD-S01357 COSM386573 c.2900G>C p.S967T Substitution - Missense 12:121975579-121975579 + ZZUFHECRKL-G045T COSM5437855 c.2736C>T p.H912H Substitution - coding silent 12:121968134-121968134 + TCGA-F4-6808-01 COSM1359530 c.579A>T p.E193D Substitution - Missense 12:121923822-121923822 + TCGA-G4-6310-01 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + DLBCL799 COSM1581931 c.2163G>A p.M721I Substitution - Missense 12:121960614-121960614 + TCGA-D1-A17L-01 COSM936142 c.2744C>T p.S915L Substitution - Missense 12:121968142-121968142 + LP6007514-DNA_A01 COSM5951487 c.1182C>T p.Y394Y Substitution - coding silent 12:121942966-121942966 + C086 COSM5541725 c.750C>T p.T250T Substitution - coding silent 12:121931748-121931748 + TCGA-AA-3510-01 COSM936137 c.1921C>A p.L641I Substitution - Missense 12:121958462-121958462 + TCGA-AF-5654-01 COSM1561803 c.1218T>A p.N406K Substitution - Missense 12:121949010-121949010 + T578 COSM4741049 c.799C>T p.R267* Substitution - Nonsense 12:121931797-121931797 + TCGA-D5-5539-01 COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + B61 COSM1746811 c.1512C>A p.I504I Substitution - coding silent 12:121954311-121954311 + DLBCL833 COSM1581935 c.3067G>A p.D1023N Substitution - Missense 12:121999776-121999776 + pfg122T COSM4760816 c.2972T>C p.M991T Substitution - Missense 12:121975651-121975651 + ESCC-D18 COSM5045714 c.3248C>G p.T1083R Substitution - Missense 12:122001509-122001509 + TCGA-AM-5820-01 COSM3752986 c.1948C>T p.L650F Substitution - Missense 12:121958489-121958489 + LIM2405 COSM4641635 c.895G>A p.A299T Substitution - Missense 12:121934253-121934253 + TCGA-CC-A7IH-01 COSM4924166 c.2852A>G p.K951R Substitution - Missense 12:121975324-121975324 + ESO-717 COSM1242997 c.2244G>A p.L748L Substitution - coding silent 12:121960695-121960695 + CSCC-5-T COSM4540446 c.2843G>A p.R948Q Substitution - Missense 12:121975315-121975315 + MOLT-4 COSM1677429 c.1864G>A p.A622T Substitution - Missense 12:121958405-121958405 + TCGA-CG-4443-01 COSM4039523 c.3432C>T p.S1144S Substitution - coding silent 12:122003746-122003746 + MedB-1 COSM5622170 c.1246A>G p.T416A Substitution - Missense 12:121949038-121949038 + 489 COSM3724175 c.424G>A p.D142N Substitution - Missense 12:121923667-121923667 + TCGA-EE-A2GH-06 COSM3457233 c.1818G>A p.K606K Substitution - coding silent 12:121958359-121958359 + WSU-HN8 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + HT115 COSM2176308 c.1860C>A p.L620L Substitution - coding silent 12:121958401-121958401 + TCGA-AA-3860-01 COSM295963 c.364T>A p.S122T Substitution - Missense 12:121921669-121921669 + TCGA-GM-A2D9-01 COSM3811291 c.1649C>T p.S550L Substitution - Missense 12:121957187-121957187 + LUAD-NYU1026 COSM368288 c.854A>T p.Y285F Substitution - Missense 12:121931852-121931852 + ICC006T COSM5807346 c.3199C>A p.R1067R Substitution - coding silent 12:121999908-121999908 + 2492703 COSM5730152 c.2998_3002delGAAGA p.E1001fs*2 Deletion - Frameshift 12:121975677-121975681 + YUKAT COSM1511399 c.2983G>A p.G995S Substitution - Missense 12:121975662-121975662 + PTC-7C COSM3752984 c.201G>A p.K67K Substitution - coding silent 12:121921506-121921506 + TCGA-AZ-6600-01 COSM3752983 c.197G>A p.G66E Substitution - Missense 12:121921502-121921502 + 062T COSM1730110 c.3092T>C p.L1031P Substitution - Missense 12:121999801-121999801 + ccRCC-12 COSM1665003 c.935G>A p.R312Q Substitution - Missense 12:121934293-121934293 + 267T COSM1727197 c.1026C>G p.S342R Substitution - Missense 12:121942561-121942561 + U87 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-K7-A5RG-01 COSM4930131 c.1911C>A p.N637K Substitution - Missense 12:121958452-121958452 + TCGA-RP-A695-06 COSM4896190 c.1921C>T p.L641F Substitution - Missense 12:121958462-121958462 + WSU-HN12 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + 93VU147T COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + UM-SCC-47 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-DU-6396-01 COSM3968038 c.2391C>T p.T797T Substitution - coding silent 12:121962061-121962061 + HN_62672 COSM130205 c.709C>G p.L237V Substitution - Missense 12:121923952-121923952 + TCGA-AP-A056-01 COSM936148 c.3373G>A p.E1125K Substitution - Missense 12:122003687-122003687 + 1990626 COSM1666790 c.2993C>T p.P998L Substitution - Missense 12:121975672-121975672 + CACO2 COSM2176312 c.2075C>T p.S692F Substitution - Missense 12:121959036-121959036 + TCGA-EL-A3T9-01 COSM2176275 c.170C>T p.T57M Substitution - Missense 12:121921475-121921475 + TCGA-A8-A07P-01 COSM430561 c.3165C>T p.L1055L Substitution - coding silent 12:121999874-121999874 + ORL-48 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-18-3416-01 COSM692612 c.3218G>C p.R1073T Substitution - Missense 12:121999927-121999927 + 8068554 COSM4387855 c.2207G>A p.R736K Substitution - Missense 12:121960658-121960658 + SCC-15 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + HCC025T COSM5803628 c.551A>T p.E184V Substitution - Missense 12:121923794-121923794 + TCGA-61-1722-01 COSM1322696 c.318C>A p.S106S Substitution - coding silent 12:121921623-121921623 + CN-AML-CR-21-Dx COSM1359535 c.912C>T p.C304C Substitution - coding silent 12:121934270-121934270 + LUAD-RT-S01777 COSM381905 c.3442G>T p.G1148C Substitution - Missense 12:122003756-122003756 + TCGA-BR-4184-01 COSM4039515 c.918C>T p.C306C Substitution - coding silent 12:121934276-121934276 + TCGA-BT-A20J-01 COSM415991 c.2222G>A p.R741H Substitution - Missense 12:121960673-121960673 + TCGA-D8-A1JG-01 COSM1476264 c.3378C>T p.I1126I Substitution - coding silent 12:122003692-122003692 + TCGA-HF-7132-01 COSM4039514 c.473T>G p.F158C Substitution - Missense 12:121923716-121923716 + Pat_16_B COSM5840377 c.2672C>T p.P891L Substitution - Missense 12:121968070-121968070 + sysucc-882T COSM5447005 c.845C>T p.A282V Substitution - Missense 12:121931843-121931843 + CN-AML-CR-65-Dx COSM5427245 c.2473G>A p.A825T Substitution - Missense 12:121962143-121962143 + SCC-9 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + PD24304a COSM5798924 c.343A>G p.T115A Substitution - Missense 12:121921648-121921648 + I2L-P7-Tumor-Organoid COSM5361916 c.3102C>T p.Y1034Y Substitution - coding silent 12:121999811-121999811 + LS180 COSM2176297 c.1517T>C p.V506A Substitution - Missense 12:121954316-121954316 + 10-305B COSM305624 c.25C>T p.R9* Substitution - Nonsense 12:121921330-121921330 + DLBCL783 COSM1581936 c.3114G>C p.K1038N Substitution - Missense 12:121999823-121999823 + TCGA-AA-A010-01 COSM286515 c.1225G>T p.E409* Substitution - Nonsense 12:121949017-121949017 + 587332 COSM1232640 c.639A>C p.R213S Substitution - Missense 12:121923882-121923882 + TCGA-F4-6703-01 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-43-3394-01 COSM692614 c.2911G>A p.D971N Substitution - Missense 12:121975590-121975590 + PTC-28C COSM5446188 c.196_197ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921501-121921502 + TCGA-EE-A2GO-06 COSM3457234 c.2063C>T p.P688L Substitution - Missense 12:121959024-121959024 + TCGA-A8-A06X-01 COSM430559 c.2579G>A p.R860H Substitution - Missense 12:121967041-121967041 + TCGA-24-1474-01 COSM79099 c.879C>A p.Y293* Substitution - Nonsense 12:121931877-121931877 + 2492709 COSM5718423 c.715C>T p.Q239* Substitution - Nonsense 12:121923958-121923958 + 2492708 COSM5718423 c.715C>T p.Q239* Substitution - Nonsense 12:121923958-121923958 + PD13299a COSM5776659 c.1939G>C p.E647Q Substitution - Missense 12:121958480-121958480 + TCGA-AA-3510-01 COSM202553 c.3025G>A p.E1009K Substitution - Missense 12:121999734-121999734 + BHY COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-BS-A0TC-01 COSM936127 c.1069G>A p.D357N Substitution - Missense 12:121942604-121942604 + TCGA-AX-A063-01 COSM936123 c.128A>G p.D43G Substitution - Missense 12:121921433-121921433 + TCGA-AO-A03M-01 COSM3811294 c.3355G>A p.E1119K Substitution - Missense 12:122003669-122003669 + HCC82 COSM1605675 c.1043G>A p.G348D Substitution - Missense 12:121942578-121942578 + 49M COSM5525827 c.1639C>T p.L547L Substitution - coding silent 12:121957177-121957177 + CSCC-29-T COSM4563942 c.997G>A p.G333S Substitution - Missense 12:121934355-121934355 + CHC902T COSM4790455 c.625G>A p.G209R Substitution - Missense 12:121923868-121923868 + CSCC-29-T COSM4500118 c.557C>T p.T186I Substitution - Missense 12:121923800-121923800 + P00-000450 COSM248334 c.2089A>C p.T697P Substitution - Missense 12:121959050-121959050 + 2492702 COSM5730152 c.2998_3002delGAAGA p.E1001fs*2 Deletion - Frameshift 12:121975677-121975681 + CRC-32T COSM278129 c.3200G>A p.R1067Q Substitution - Missense 12:121999909-121999909 + CHC1065T COSM217006 c.1598T>C p.V533A Substitution - Missense 12:121957136-121957136 + T578 COSM264693 c.2213G>A p.R738H Substitution - Missense 12:121960664-121960664 + NOKSI COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + MOLT-4 COSM202550 c.2233C>T p.R745* Substitution - Nonsense 12:121960684-121960684 + TCGA-AX-A0J1-01 COSM936129 c.1198G>A p.V400I Substitution - Missense 12:121948990-121948990 + TCGA-EB-A553-01 COSM3457236 c.2421G>A p.R807R Substitution - coding silent 12:121962091-121962091 + C709 COSM1359543 c.3394G>A p.A1132T Substitution - Missense 12:122003708-122003708 + SNU-283 COSM1581936 c.3114G>C p.K1038N Substitution - Missense 12:121999823-121999823 + TCGA-AP-A059-01 COSM936128 c.1165G>A p.E389K Substitution - Missense 12:121942949-121942949 + RK202_C01 COSM3739475 c.1658C>T p.P553L Substitution - Missense 12:121957196-121957196 + TCGA-DK-A3WW-01 COSM3792278 c.3424G>A p.E1142K Substitution - Missense 12:122003738-122003738 + LUAD-NYU1026 COSM368289 c.1996G>A p.A666T Substitution - Missense 12:121958957-121958957 + DLBCL759 COSM1581931 c.2163G>A p.M721I Substitution - Missense 12:121960614-121960614 + ACC-2 COSM4967727 c.196_200GGGAA>GAGAAAGA p.G66_K67>EKE Complex - insertion inframe 12:121921501-121921505 + TCGA-D8-A1Y1-01 COSM1476263 c.3001G>A p.E1001K Substitution - Missense 12:121975680-121975680 + 19M COSM5579981 c.2694C>T p.A898A Substitution - coding silent 12:121968092-121968092 + TCGA-CA-6718-01 COSM202553 c.3025G>A p.E1009K Substitution - Missense 12:121999734-121999734 + TCGA-F4-6807-01 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-QB-A6FS-06 COSM3870957 c.2671C>T p.P891S Substitution - Missense 12:121968069-121968069 + ESCC_BICR_040T COSM5429805 c.64G>C p.E22Q Substitution - Missense 12:121921369-121921369 + TCGA-D9-A6EC-06 COSM4405477 c.1677A>C p.E559D Substitution - Missense 12:121957215-121957215 + TCGA-24-2289-01 COSM115820 c.1298G>C p.S433T Substitution - Missense 12:121951508-121951508 + I2L-P10-Tumor-Organoid COSM5361384 c.3445C>A p.Q1149K Substitution - Missense 12:122003759-122003759 + TCGA-GI-A2C9-01 COSM3811293 c.3230C>T p.T1077I Substitution - Missense 12:121999939-121999939 + SNUH_G50_S1 COSM3752983 c.197G>A p.G66E Substitution - Missense 12:121921502-121921502 + CSCC-41-T COSM4542260 c.3150G>A p.K1050K Substitution - coding silent 12:121999859-121999859 + 2367453 COSM5004147 c.280G>A p.E94K Substitution - Missense 12:121921585-121921585 + 587376 COSM1232643 c.2484A>C p.K828N Substitution - Missense 12:121962154-121962154 + MedB-1 COSM1359526 c.184G>A p.G62R Substitution - Missense 12:121921489-121921489 + TCGA-AA-3663-01 COSM1359532 c.827A>G p.Y276C Substitution - Missense 12:121931825-121931825 + TCGA-D8-A1XK-01 COSM3811292 c.2344C>A p.L782M Substitution - Missense 12:121962014-121962014 + U373 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + TCGA-63-5131-01 COSM692618 c.365C>T p.S122L Substitution - Missense 12:121921670-121921670 + YUNEKI COSM5374431 c.1515G>T p.T505T Substitution - coding silent 12:121954314-121954314 + TCGA-EW-A1J3-01 COSM5831998 c.174delC p.E59fs*40 Deletion - Frameshift 12:121921479-121921479 + BICR_22 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + WT014 COSM5351819 c.3193G>A p.A1065T Substitution - Missense 12:121999902-121999902 + ESCC_38 COSM3457240 c.3330C>T p.S1110S Substitution - coding silent 12:122001591-122001591 + SC_9047 COSM5573456 c.3236-1G>T p.? Unknown 12:122001496-122001496 + 40M COSM1666790 c.2993C>T p.P998L Substitution - Missense 12:121975672-121975672 + DLBCL806 COSM1581933 c.2369C>T p.T790I Substitution - Missense 12:121962039-121962039 + TCGA-B5-A11O-01 COSM936147 c.3024C>T p.N1008N Substitution - coding silent 12:121999733-121999733 + TCGA-AX-A0J0-01 COSM936125 c.466A>T p.I156F Substitution - Missense 12:121923709-121923709 + TCGA-BR-A4QL-01 COSM4039522 c.3297C>T p.P1099P Substitution - coding silent 12:122001558-122001558 + RKO COSM2176300 c.1707delA p.G571fs*6 Deletion - Frameshift 12:121957245-121957245 + TCGA-BS-A0UV-01 COSM936139 c.2234G>A p.R745Q Substitution - Missense 12:121960685-121960685 + L14 COSM5369192 c.1993G>A p.G665R Substitution - Missense 12:121958954-121958954 + TCGA-FS-A4F5-06 COSM202550 c.2233C>T p.R745* Substitution - Nonsense 12:121960684-121960684 + TCGA-AP-A0LM-01 COSM936139 c.2234G>A p.R745Q Substitution - Missense 12:121960685-121960685 + 46M COSM5589355 c.247G>A p.E83K Substitution - Missense 12:121921552-121921552 + CHC1065T COSM217006 c.1598T>C p.V533A Substitution - Missense 12:121957136-121957136 + C058 COSM5525827 c.1639C>T p.L547L Substitution - coding silent 12:121957177-121957177 + CMPC11-3104 COSM3670999 c.3330C>A p.S1110S Substitution - coding silent 12:122001591-122001591 + ESCC_4 COSM5622759 c.2323C>T p.L775F Substitution - Missense 12:121961993-121961993 + TCGA-EE-A2MR-06 COSM3457239 c.3302G>A p.G1101E Substitution - Missense 12:122001563-122001563 + TCGA-AX-A0J0-01 COSM936137 c.1921C>A p.L641I Substitution - Missense 12:121958462-121958462 + WSU-HN30 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 + T3225 COSM4741051 c.1765T>C p.Y589H Substitution - Missense 12:121958306-121958306 + TCGA-D1-A17Q-01 COSM936122 c.49G>T p.E17* Substitution - Nonsense 12:121921354-121921354 + HT115 COSM2176275 c.170C>T p.T57M Substitution - Missense 12:121921475-121921475 + TCGA-AX-A0J0-01 COSM936126 c.726A>C p.K242N Substitution - Missense 12:121923969-121923969 + TCGA-CG-4442-01 COSM4039516 c.1698C>G p.D566E Substitution - Missense 12:121957236-121957236 + TCGA-AA-A00N-01 COSM278129 c.3200G>A p.R1067Q Substitution - Missense 12:121999909-121999909 + TCGA-BR-4184-01 COSM4039512 c.285A>C p.E95D Substitution - Missense 12:121921590-121921590 + CHC1065T COSM217006 c.1598T>C p.V533A Substitution - Missense 12:121957136-121957136 + SNUH_G76_S1 COSM4417815 c.1148C>T p.T383M Substitution - Missense 12:121942932-121942932 + TCGA-EW-A1P5-01 COSM5831998 c.174delC p.E59fs*40 Deletion - Frameshift 12:121921479-121921479 + HCC82T COSM1605675 c.1043G>A p.G348D Substitution - Missense 12:121942578-121942578 + CSCC-31-T COSM4540477 c.2849G>A p.G950E Substitution - Missense 12:121975321-121975321 + HCC2998 COSM1677427 c.890G>C p.G297A Substitution - Missense 12:121934248-121934248 + T2944 COSM4741054 c.3226G>A p.V1076I Substitution - Missense 12:121999935-121999935 + LS174T COSM2176297 c.1517T>C p.V506A Substitution - Missense 12:121954316-121954316 + TCGA-CD-8536-01 COSM4039513 c.315G>A p.A105A Substitution - coding silent 12:121921620-121921620 + Gp2D COSM4627003 c.1045A>G p.I349V Substitution - Missense 12:121942580-121942580 + TCGA-B5-A0JR-01 COSM936141 c.2685C>T p.A895A Substitution - coding silent 12:121968083-121968083 + CSCC-11-T COSM4488685 c.3367C>T p.P1123S Substitution - Missense 12:122003681-122003681 + 2492710 COSM5718423 c.715C>T p.Q239* Substitution - Nonsense 12:121923958-121923958 + TCGA-AP-A051-01 COSM936134 c.1610G>T p.S537I Substitution - Missense 12:121957148-121957148 + TCGA-CD-5800-01 COSM4039520 c.2229C>G p.S743R Substitution - Missense 12:121960680-121960680 + HCC101T COSM5813274 c.2359A>G p.I787V Substitution - Missense 12:121962029-121962029 + PTC_235 COSM1359529 c.186_187ins15 p.E65_G66insEKEEE Insertion - In frame 12:121921491-121921492 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709827;Hs.709830;Hs.709832;Hs.709834;Hs.709835;Hs.709837 12q24.31 601046 2424412|dbSNP|BC112301|A/G|coding|Asn357Ser|1166|Confirmed

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AGGGGGAGGAGAAAG InFrameInsertion p.E63_E64insGGGER c.188_189insAGGGGGAGGAGAAAG 12 122359399 UCEC A G IntronicSNV . c.1270-84A>G 12 122389302 HC A G IntronicSNV . c.888+993A>G 12 122370785 MB A G Missense p.D43G c.128A>G 12 122359339 UCEC A G Missense p.I419V c.1255A>G 12 122386953 HNSC A T Missense p.E269V c.806A>T 12 122369710 RCCC C A Nonsense p.Y293* c.879C>A 12 122369783 OV C A Synonymous p.R225R c.673C>A 12 122361822 STAD - C Frameshift p.V246Gfs*64 c.734dupC 12 122361880 BRCA C G Missense p.L237V c.709C>G 12 122361858 HNSC C G Missense p.P190A c.568C>G 12 122361717 BRCA C G Missense p.P28A c.82C>G 12 122359293 HNSC C G Missense p.S743R c.2229C>G 12 122398586 STAD C T 3-UTRSNV . c.3447+101C>T 12 122441768 CM C T Missense p.P688L c.2063C>T 12 122396930 CM C T Missense p.S122L c.365C>T 12 122359576 LUSC C T Missense p.S215F c.644C>T 12 122361793 BRCA C T Missense p.S303F c.908C>T 12 122372172 CM C T Missense p.S915L c.2744C>T 12 122406048 UCEC C T Missense p.S963F c.2888C>T 12 122413473 BRCA C T Missense p.T57M c.170C>T 12 122359381 THCA C T Nonsense p.Q618* c.1852C>T 12 122396299 LUAD C T Nonsense p.Q706* c.2116C>T 12 122396983 LUAD C T Synonymous p.A895A c.2685C>T 12 122405989 UCEC C T Synonymous p.F1131F c.3393C>T 12 122441613 PRAD C T Synonymous p.I1048I c.3144C>T 12 122437759 CM C T Synonymous p.I1126I c.3378C>T 12 122441598 BRCA C T Synonymous p.L1055L c.3165C>T 12 122437780 BRCA C T Synonymous p.L1072L c.3214C>T 12 122437829 CM C T Synonymous p.L237L c.709C>T 12 122361858 CM C T Synonymous p.S1144S c.3432C>T 12 122441652 STAD C T Synonymous p.T250T c.750C>T 12 122369654 HNSC C T Synonymous p.T797T c.2391C>T 12 122399967 LGG - GAGGAGGAGGAGAAA MultiAAMissense p.E63delinsGGGGEK c.187_188insGAGGAGGAGGAGAAA 12 122359398 BRCA G A IntronicSNV . c.2133+693G>A 12 122397693 CLL G A Missense p.D142N c.424G>A 12 122361573 HNSC G A Missense p.D357N c.1069G>A 12 122380510 UCEC G A Missense p.D971N c.2911G>A 12 122413496 LUSC G A Missense p.E1001K c.3001G>A 12 122413586 BRCA G A Missense p.E111K c.331G>A 12 122359542 CM G A Missense p.E1125K c.3373G>A 12 122441593 CM G A Missense p.E927K c.2779G>A 12 122413157 HNSC G A Missense p.G1056S c.3166G>A 12 122437781 CM G A Missense p.G1056S c.3166G>A 12 122437781 GBM G A Missense p.G1079S c.3235G>A 12 122437850 CM G A Missense p.G542D c.1625G>A 12 122395069 UCEC G A Missense p.M991I c.2973G>A 12 122413558 HNSC G A Missense p.R741H c.2222G>A 12 122398579 BLCA G A Missense p.R860H c.2579G>A 12 122404947 BRCA G A SpliceAcceptorSNV . c.1270-1G>A 12 122389385 UCEC G A Synonymous p.K240K c.720G>A 12 122361869 CM G A Synonymous p.K606K c.1818G>A 12 122396265 CM G A Synonymous p.K606K c.1818G>A 12 122396265 HNSC G A Synonymous p.R212R c.636G>A 12 122361785 LUAD G C Missense p.D971H c.2911G>C 12 122413496 BRCA G C Missense p.G542A c.1625G>C 12 122395069 LUSC G C Missense p.K71N c.213G>C 12 122359424 HNSC G C Missense p.R1073T c.3218G>C 12 122437833 LUSC G C Missense p.R976T c.2927G>C 12 122413512 LUSC G C Missense p.S433T c.1298G>C 12 122389414 OV G C Missense p.V673L c.2017G>C 12 122396884 PRAD G T Missense p.C278F c.833G>T 12 122369737 LUAD G T Missense p.G624W c.1870G>T 12 122396317 LUAD G T Nonsense p.E808* c.2422G>T 12 122399998 LUAD T A Missense p.S122T c.364T>A 12 122359575 COREAD T C Missense p.V533A c.1598T>C 12 122395042 HC TGT - IntronicDeletion . c.2772-7_2772-5delGTT 12 122413136 ESCA